### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HMGCL) # 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}}" "HMGCL" "3-hydroxymethyl-3-methylglutaryl-CoA lyase" "1" "p36.1-p35" "unknown" "NG_013061.1" "UD_132118919371" "" "https://www.LOVD.nl/HMGCL" "" "1" "5005" "3155" "613898" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/HMGCL_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-03-16 11:14:48" "00000" "2025-05-05 21:14:00" ## 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}}" "00009472" "HMGCL" "transcript variant 1" "002" "NM_000191.2" "" "NP_000182.2" "" "" "" "-44" "1564" "978" "24151949" "24128367" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "01895" "HMGCLD" "HMG-CoA lyase deficiency" "AR" "246450" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "HMGCL" "01895" ## Individuals ## Do not remove or alter this header ## ## Count = 157 "{{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}}" "00405118" "" "" "" "1" "" "00006" "{PMID:Mitchell 1993:8440722}" "-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F;M" "" "Canada" "" "0" "" "" "French-Canadian;Acadian" "family" "00405120" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405121" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405122" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405123" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405124" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405125" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405126" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405127" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405128" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405129" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405130" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405131" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405132" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405133" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405134" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405135" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405136" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405137" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405138" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405139" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405140" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405141" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405142" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405143" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405144" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405145" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405146" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405147" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405148" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405149" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405150" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405151" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405152" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405153" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405154" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405155" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405156" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405157" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405158" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405159" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405160" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405161" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405162" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405163" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405164" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405165" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405166" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405167" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405168" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405169" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405170" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405171" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405172" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405173" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405174" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405175" "" "" "" "1" "" "03566" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00405364" "" "" "" "1" "" "00006" "{PMID:Mitchell 1995:7479590}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Italy" "" "0" "" "" "" "PatHL2I" "00405365" "" "" "" "1" "" "00006" "{PMID:Wang 1996:8617516}" "" "" "" "" "" "0" "" "" "" "PatHL29" "00405366" "" "" "" "1" "" "00006" "{PMID:Wang 1996:8617516}" "" "" "" "" "" "0" "" "" "" "PatHL27" "00405367" "" "" "" "1" "" "00006" "{PMID:Buesa 1996:8978493}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Netherlands" "" "0" "" "" "Turkey" "PatEC" "00405368" "" "" "" "1" "" "00006" "{PMID:Casals 1997:9392428}" "" "F" "no" "Spain" "" "0" "" "" "" "PatGCL" "00405369" "" "" "" "1" "" "00006" "{PMID:Mitchell 1998:9463337}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "PatHL3" "00405371" "" "" "" "1" "" "00006" "{PMID:Mitchell 1998:9463337}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "PatHL4" "00405372" "" "" "" "1" "" "00006" "{PMID:Mitchell 1998:9463337}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "PatHL5" "00405373" "" "" "" "1" "" "00006" "{PMID:Mitchell 1998:9463337}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "PatHL6" "00405374" "" "" "" "1" "" "00006" "{PMID:Mitchell 1998:9463337}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "PatHL33" "00405375" "" "" "" "1" "" "00006" "{PMID:Mitchell 1998:9463337}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "PatHL37" "00405376" "" "" "" "1" "" "00006" "{PMID:Mitchell 1998:9463337}" "" "" "" "Turkey" "" "0" "" "" "" "PatHL41" "00405377" "" "" "" "1" "" "00006" "{PMID:Mitchell 1998:9463337}" "" "" "" "Italy" "" "0" "" "" "" "PatHL36" "00405378" "" "" "" "1" "" "00006" "{PMID:Mitchell 1998:9463337}" "" "" "" "Netherlands" "" "0" "" "" "" "PatHL26" "00405379" "" "" "" "1" "" "00006" "{PMID:Mitchell 1998:9463337}" "" "" "" "Austria" "" "0" "" "" "" "PatHL13" "00405380" "" "" "" "1" "" "00006" "{PMID:Mitchell 1998:9463337}" "" "" "" "" "" "0" "" "" "Cajun;black" "PatHL14" "00405381" "" "" "" "1" "" "00006" "{PMID:Mitchell 1998:9463337}" "" "" "" "England;Germany" "" "0" "" "" "" "PatHL25" "00405382" "" "" "" "1" "" "00006" "{PMID:Mitchell 1998:9463337}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "PatHL9" "00405383" "" "" "" "1" "" "00006" "{PMID:Mitchell 1998:9463337}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "PatHL8" "00405384" "" "" "" "1" "" "00006" "{PMID:Pie 1997:9163320}" "" "M" "no" "Portugal" "" "0" "" "" "" "Pat1" "00405385" "" "" "" "1" "" "00006" "{PMID:Pie 1997:9163320}" "" "F" "yes" "Morocco" "" "0" "" "" "" "Pat2" "00405428" "" "" "" "1" "" "00006" "{PMID:Zapater 1998:9784232}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "" "France" "" "0" "" "" "" "PatAB" "00405429" "" "" "" "1" "" "00006" "{PMID:Muroi 2000:11129331}" "" "M" "" "Japan" "" "0" "" "" "" "PatMS" "00405430" "" "" "" "1" "" "00006" "{PMID:Muroi 2000:11129331}" "" "F" "" "Japan" "" "0" "" "" "" "PatKY" "00405431" "" "" "" "1" "" "00006" "{PMID:Muroi 2000:11129331}" "" "M" "" "Japan" "" "0" "" "" "" "PatKE" "00405432" "" "" "" "1" "" "00006" "{PMID:Muroi 2000:11129331}" "" "F" "" "Japan" "" "0" "" "" "" "PatAS" "00405433" "" "" "" "1" "" "00006" "{PMID:Muroi 2000:11129331}" "" "M" "" "Japan" "" "0" "" "" "" "PatST" "00405446" "" "" "" "1" "" "00006" "{PMID:Funghini 2001:11461194}" "7-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "" "Italy" "" "0" "" "" "" "patient" "00405447" "" "" "" "1" "" "00006" "{PMID:Pospisilova 2003:14518825}" "" "M" "" "Czech Republic" "" "0" "" "" "" "Pat1" "00405448" "" "" "" "1" "" "00006" "{PMID:Pospisilova 2003:14518825}" "" "F" "" "Czech Republic" "" "0" "" "" "" "Pat2" "00405449" "" "" "" "1" "" "00006" "{PMID:Pospisilova 2003:14518825}" "" "M" "" "Czech Republic" "" "0" "" "" "" "Pat3" "00405450" "" "" "" "1" "" "00006" "{PMID:Casals 2003:12746442}" "" "F" "yes" "Argentina" "" "0" "" "" "" "PatDS" "00405451" "" "" "" "1" "" "00006" "{PMID:Casals 2003:12746442}" "" "" "" "England" "" "0" "" "" "" "PatBP" "00405452" "" "" "" "1" "" "00006" "{PMID:Casals 2003:12746442}" "" "M" "" "Germany" "" "0" "" "" "" "PatTJ" "00405453" "" "" "" "1" "" "00006" "{PMID:Mir 2006:16601870}" "" "M" "" "Italy" "" "0" "" "" "" "PatBA" "00405455" "" "" "" "1" "" "00006" "{PMID:Al-Sayed 2006:17173698}" "analysis 36 HMG-CoA lyase deficiency cases" "" "" "Saudi Arabia" "" "0" "" "" "" "patient" "00405456" "" "" "" "1" "" "00006" "{PMID:Al-Sayed 2006:17173698}" "analysis 36 HMG-CoA lyase deficiency cases" "" "" "Saudi Arabia" "" "0" "" "" "" "patient" "00405457" "" "" "" "32" "" "00006" "{PMID:Al-Sayed 2006:17173698}" "analysis 36 HMG-CoA lyase deficiency cases" "" "" "Saudi Arabia" "" "0" "" "" "" "patient" "00405458" "" "" "" "1" "" "00006" "{PMID:Zafeiriou 2007:17628222}" "" "M" "" "Greece" "" "0" "" "" "" "patient" "00405489" "" "" "" "1" "" "00006" "{PMID:Carrasco 2007:17459752}" "" "" "" "Spain" "" "0" "" "" "" "patient" "00405490" "" "" "" "1" "" "00006" "{PMID:Carrasco 2007:17459752}" "" "" "" "Spain" "" "0" "" "" "" "patient" "00405491" "" "" "" "1" "" "00006" "{PMID:Vargas 2008:18080783}" "" "M" "" "Brazil" "" "0" "" "" "Portugal" "PatRL" "00405492" "" "" "" "1" "" "00006" "{PMID:Vargas 2008:18080783}" "" "F" "" "Brazil" "" "0" "" "" "Portugal" "PatGA" "00405493" "" "" "" "1" "" "00006" "{PMID:Vargas 2008:18080783}" "" "M" "" "Brazil" "" "0" "" "" "Portugal" "PatVO" "00405494" "" "" "" "1" "" "00006" "{PMID:Vargas 2008:18080783}" "" "M" "" "Brazil" "" "0" "" "" "" "PatES" "00405495" "" "" "" "1" "" "00006" "{PMID:Lin 2009:19036343}" "" "M" "no" "Taiwan" "" "0" "" "" "" "Pat1" "00405496" "" "" "" "1" "" "00006" "{PMID:Lin 2009:19036343}" "" "F" "no" "Taiwan" "" "0" "" "" "" "Pat2" "00405513" "" "" "" "1" "" "00006" "{PMID:Menao 2009:19177531}" "" "" "" "Pakistan" "" "0" "" "" "" "Pat8" "00405514" "" "" "" "1" "" "00006" "{PMID:Menao 2009:19177531}" "" "" "" "Pakistan" "" "0" "" "" "" "Pat9" "00405515" "" "" "" "1" "" "00006" "{PMID:Menao 2009:19177531}" "" "" "" "Spain" "" "0" "" "" "" "Pat18" "00405516" "" "" "" "1" "" "00006" "{PMID:Menao 2009:19177531}" "" "" "" "Palestine" "" "0" "" "" "" "Pat11" "00405517" "" "" "" "1" "" "00006" "{PMID:Menao 2009:19177531}" "" "" "" "Spain" "" "0" "" "" "" "Pat12" "00405518" "" "" "" "1" "" "00006" "{PMID:Menao 2009:19177531}" "" "" "" "France" "" "0" "" "" "" "Pat13" "00405519" "" "" "" "1" "" "00006" "{PMID:Menao 2009:19177531}" "" "" "" "Ecuador" "" "0" "" "" "" "Pat10" "00405520" "" "" "" "1" "" "00006" "{PMID:Menao 2009:19177531}" "" "" "" "England" "" "0" "" "" "" "Pat16" "00405521" "" "" "" "1" "" "00006" "{PMID:Menao 2009:19177531}" "" "" "" "Spain" "" "0" "" "" "" "Pat14" "00405522" "" "" "" "1" "" "00006" "{PMID:Menao 2009:19177531}" "" "" "" "Spain" "" "0" "" "" "" "Pat15" "00405523" "" "" "" "1" "" "00006" "{PMID:Pierron 2010:19932602}" "" "M" "" "France" "" "0" "" "" "" "patient" "00405524" "" "" "" "1" "" "00006" "{PMID:Koksal 2015:25708061}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Turkey" "" "0" "" "" "" "patient" "00405525" "" "" "" "1" "" "00006" "{PMID:Aoyama 2015:25872961}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Japan" "" "0" "" "" "" "Pat1" "00405526" "" "" "" "1" "" "00006" "{PMID:Aoyama 2015:25872961}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Japan" "" "0" "" "" "" "Pat2" "00405620" "" "" "" "1" "" "00006" "{PMID:Cardoso 2004:15308132}" "" "M" "" "Portugal" "" "0" "" "" "" "Pat1" "00405621" "" "" "" "1" "" "00006" "{PMID:Cardoso 2004:15308132}" "" "M" "" "Portugal" "" "0" "" "" "" "Pat2" "00405622" "" "" "" "1" "" "00006" "{PMID:Cardoso 2004:15308132}" "" "F" "" "Portugal" "" "0" "" "" "" "Pat3" "00405623" "" "" "" "3" "" "00006" "{PMID:Cardoso 2004:15308132}" "family, 3 affected" "F" "" "Portugal" "" "0" "" "" "" "Pat4" "00405624" "" "" "00405623" "1" "" "00006" "{PMID:Cardoso 2004:15308132}" "sib" "M" "" "Portugal" "" "0" "" "" "" "Pat5" "00405625" "" "" "00405623" "1" "" "00006" "{PMID:Cardoso 2004:15308132}" "relative" "M" "" "Portugal" "" "0" "" "" "" "Pat6" "00405626" "" "" "" "1" "" "00006" "{PMID:Cardoso 2004:15308132}" "" "M" "" "Portugal" "00y01m" "0" "" "" "" "Pat7" "00405627" "" "" "" "1" "" "00006" "{PMID:Cardoso 2004:15308132}" "" "F" "" "Portugal" "06y" "0" "" "" "" "Pat8" "00405628" "" "" "" "1" "" "00006" "{PMID:Cardoso 2004:15308132}" "" "F" "" "Portugal" "" "0" "" "" "" "Pat9" "00405629" "" "" "" "1" "" "00006" "{PMID:Cardoso 2004:15308132}" "" "F" "" "Portugal" "" "0" "" "" "" "Pat10" "00405630" "" "" "" "1" "" "00006" "{PMID:Cardoso 2004:15308132}" "" "F" "" "Portugal" "" "0" "" "" "" "Pat11" "00405631" "" "" "" "1" "" "00006" "{PMID:Casale 1998:9439591}" "" "F" "no" "Spain" "" "0" "" "" "" "PatDG" "00405632" "" "" "" "1" "" "00006" "{PMID:Casale 1998:9439591}" "" "M" "no" "Spain" "" "0" "" "" "" "PatJI" "00405633" "" "" "" "1" "" "00006" "{PMID:Casale 1998:9439591}" "" "M" "yes" "Spain" "" "0" "" "" "gypsy" "PatJG" "00405634" "" "" "" "1" "" "00006" "{PMID:Casale 1998:9439591}" "" "M" "" "Turkey" "" "0" "" "" "" "PatST" "00405635" "" "" "" "1" "" "00006" "{PMID:Puisac 2005:15752612}" "" "M" "" "Spain" "" "0" "" "" "" "PatPJG" "00405636" "" "" "" "1" "" "00006" "{PMID:Grunert 2017:28583327}" "" "F" "" "Germany" "" "0" "" "" "" "Pat1" "00405637" "" "" "" "1" "" "00006" "{PMID:Grunert 2017:28583327}" "" "F" "yes" "Turkey" "" "0" "" "" "" "Pat3" "00405638" "" "" "" "1" "" "00006" "{PMID:Grunert 2017:28583327}" "" "F" "" "Turkey" "" "0" "" "" "" "Pat4" "00405639" "" "" "" "1" "" "00006" "{PMID:Grunert 2017:28583327}" "" "M" "" "Russia" "" "0" "" "" "" "Pat5" "00405640" "" "" "" "1" "" "00006" "{PMID:Grunert 2017:28583327}" "" "F" "" "Germany" "" "0" "" "" "" "Pat6" "00405641" "" "" "" "1" "" "00006" "{PMID:Grunert 2017:28583327}" "" "M" "yes" "Turkey" "" "0" "" "" "" "Pat8" "00405642" "" "" "" "1" "" "00006" "{PMID:Grunert 2017:28583327}" "" "M" "yes" "Turkey" "" "0" "" "" "" "Pat9" "00405643" "" "" "" "1" "" "00006" "{PMID:Grunert 2017:28583327}" "" "M" "yes" "Turkey" "3y6m" "0" "" "" "" "Pat11" "00405644" "" "" "" "1" "" "00006" "{PMID:Grunert 2017:28583327}" "" "F" "yes" "Turkey" "" "0" "" "" "" "Pat12" "00405645" "" "" "" "1" "" "00006" "{PMID:Grunert 2017:28583327}" "" "M" "yes" "Turkey" "" "0" "" "" "" "Pat14" "00405646" "" "" "" "1" "" "00006" "{PMID:Grunert 2017:28583327}" "" "F" "yes" "Turkey" "" "0" "" "" "" "Pat15" "00405647" "" "" "" "1" "" "00006" "{PMID:Grunert 2017:28583327}" "" "M" "" "Portugal" "" "0" "" "" "" "Pat17" "00405648" "" "" "" "1" "" "00006" "{PMID:Koling 2000:10916782}, {PMID:Grunert 2017:28583327}" "family, 2 affected sibs" "F" "yes" "Germany" "" "0" "" "" "Turkey" "Pat18" "00405649" "" "" "" "1" "" "00006" "{PMID:Koling 2000:10916782}, {PMID:Grunert 2017:28583327}" "sib" "F" "yes" "Germany" "" "0" "" "" "Turkey" "Pat19" "00405650" "" "" "" "1" "" "00006" "{PMID:Grunert 2017:28583327}" "" "M" "" "Turkey" "" "0" "" "" "" "Pat22" "00405651" "" "" "" "1" "" "00006" "{PMID:Grunert 2017:28583327}" "" "F" "" "Turkey" "" "0" "" "" "" "Pat24" "00405652" "" "" "" "1" "" "00006" "{PMID:Grunert 2017:28583327}" "" "F" "yes" "Turkey" "" "0" "" "" "" "Pat29" "00405653" "" "" "" "1" "" "00006" "{PMID:Grunert 2017:28583327}" "" "F" "" "Turkey" "" "0" "" "" "" "Pat37" "00450326" "" "" "" "1" "" "04221" "{PMID:Vela-Amieva 2024:39519275}" "" "F" "no" "Mexico" "" "" "" "" "Mexican" "3bINP-010" "00451445" "" "" "" "1" "" "04221" "{PMID:Vela-Amieva 2024:39519275}" "Likely consanguinity" "M" "no" "Mexico" "" "" "" "" "Mexican" "3bINP-032" "00451457" "" "" "" "1" "" "04221" "{PMID:Vela-Amieva 2024:39519275}" "Familial case (sister affected: died at 11m)" "F" "yes" "Mexico" "" "" "" "" "Mexican" "3bINP-035" "00451460" "" "" "" "1" "" "04221" "{PMID:Vela-Amieva 2024:39519275}" "Familial case (brother affected: died at 09m)" "F" "no" "Mexico" "" "" "" "" "Mexican" "3bINP-042" "00451639" "" "" "" "1" "" "04221" "{PMID:Vela-Amieva 2024:39519275}" "Co-occurrence of two different monogenic diseases (a pathogenic variant in the MSH6 gene was identified as a secondary finding)." "F" "no" "Mexico" "" "" "" "" "Mexican" "3bINP-074" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 157 "{{individualid}}" "{{diseaseid}}" "00405118" "01895" "00405120" "01895" "00405121" "01895" "00405122" "01895" "00405123" "01895" "00405124" "01895" "00405125" "01895" "00405126" "01895" "00405127" "01895" "00405128" "01895" "00405129" "01895" "00405130" "01895" "00405131" "01895" "00405132" "01895" "00405133" "01895" "00405134" "01895" "00405135" "01895" "00405136" "01895" "00405137" "01895" "00405138" "01895" "00405139" "01895" "00405140" "01895" "00405141" "01895" "00405142" "01895" "00405143" "01895" "00405144" "01895" "00405145" "01895" "00405146" "01895" "00405147" "01895" "00405148" "01895" "00405149" "01895" "00405150" "01895" "00405151" "01895" "00405152" "01895" "00405153" "01895" "00405154" "01895" "00405155" "01895" "00405156" "01895" "00405157" "01895" "00405158" "01895" "00405159" "01895" "00405160" "01895" "00405161" "01895" "00405162" "01895" "00405163" "01895" "00405164" "01895" "00405165" "01895" "00405166" "01895" "00405167" "01895" "00405168" "01895" "00405169" "01895" "00405170" "01895" "00405171" "01895" "00405172" "01895" "00405173" "01895" "00405174" "01895" "00405175" "01895" "00405364" "01895" "00405365" "01895" "00405366" "01895" "00405367" "01895" "00405368" "01895" "00405369" "01895" "00405371" "01895" "00405372" "01895" "00405373" "01895" "00405374" "01895" "00405375" "01895" "00405376" "01895" "00405377" "01895" "00405378" "01895" "00405379" "01895" "00405380" "01895" "00405381" "01895" "00405382" "01895" "00405383" "01895" "00405384" "01895" "00405385" "01895" "00405428" "01895" "00405429" "01895" "00405430" "01895" "00405431" "01895" "00405432" "01895" "00405433" "01895" "00405446" "01895" "00405447" "01895" "00405448" "01895" "00405449" "01895" "00405450" "01895" "00405451" "01895" "00405452" "01895" "00405453" "01895" "00405455" "01895" "00405456" "01895" "00405457" "01895" "00405458" "01895" "00405489" "01895" "00405490" "01895" "00405491" "01895" "00405492" "01895" "00405493" "01895" "00405494" "01895" "00405495" "01895" "00405496" "01895" "00405513" "01895" "00405514" "01895" "00405515" "01895" "00405516" "01895" "00405517" "01895" "00405518" "01895" "00405519" "01895" "00405520" "01895" "00405521" "01895" "00405522" "01895" "00405523" "01895" "00405524" "01895" "00405525" "01895" "00405526" "01895" "00405620" "01895" "00405621" "01895" "00405622" "01895" "00405623" "01895" "00405624" "01895" "00405625" "01895" "00405626" "01895" "00405627" "01895" "00405628" "01895" "00405629" "01895" "00405630" "01895" "00405631" "01895" "00405632" "01895" "00405633" "01895" "00405634" "01895" "00405635" "01895" "00405636" "01895" "00405637" "01895" "00405638" "01895" "00405639" "01895" "00405640" "01895" "00405641" "01895" "00405642" "01895" "00405643" "01895" "00405644" "01895" "00405645" "01895" "00405646" "01895" "00405647" "01895" "00405648" "01895" "00405649" "01895" "00405650" "01895" "00405651" "01895" "00405652" "01895" "00405653" "01895" "00450326" "01895" "00451445" "01895" "00451457" "01895" "00451460" "01895" "00451639" "01895" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 01895 ## Count = 141 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000297667" "01895" "00405118" "00006" "Familial, autosomal recessive" "" "see paper; ..., non-ketotic hypoglycemia, lethargy, urinary organic acid excretion characteristic of HL deficiency" "" "" "" "" "" "" "" "HMGCL" "HMG-CoA lyase deficiency" "0000297669" "01895" "00405120" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297670" "01895" "00405121" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297671" "01895" "00405122" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297672" "01895" "00405123" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297673" "01895" "00405124" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297674" "01895" "00405125" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297675" "01895" "00405126" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297676" "01895" "00405127" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297677" "01895" "00405128" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297678" "01895" "00405129" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297679" "01895" "00405130" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297680" "01895" "00405131" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297681" "01895" "00405132" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297682" "01895" "00405133" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297683" "01895" "00405134" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297684" "01895" "00405135" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297685" "01895" "00405136" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297686" "01895" "00405137" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297687" "01895" "00405138" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297688" "01895" "00405139" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297689" "01895" "00405140" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297690" "01895" "00405141" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297691" "01895" "00405142" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297692" "01895" "00405143" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297693" "01895" "00405144" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297694" "01895" "00405145" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297695" "01895" "00405146" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297696" "01895" "00405147" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297697" "01895" "00405148" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297698" "01895" "00405149" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297699" "01895" "00405150" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297700" "01895" "00405151" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297701" "01895" "00405152" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297702" "01895" "00405153" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297703" "01895" "00405154" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297704" "01895" "00405155" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297705" "01895" "00405156" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297706" "01895" "00405157" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297707" "01895" "00405158" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297708" "01895" "00405159" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297709" "01895" "00405160" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297710" "01895" "00405161" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297711" "01895" "00405162" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297712" "01895" "00405163" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297713" "01895" "00405164" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297714" "01895" "00405165" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297715" "01895" "00405166" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297716" "01895" "00405167" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297717" "01895" "00405168" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297718" "01895" "00405169" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297719" "01895" "00405170" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297720" "01895" "00405171" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297721" "01895" "00405172" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297722" "01895" "00405173" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297723" "01895" "00405174" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297724" "01895" "00405175" "03566" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297912" "01895" "00405364" "00006" "Familial, autosomal recessive" "" "see paper; ..., 2d-seizures, metabolic acidosis, normalized with supportive treatment; 9m-moderate developmental delay, upper respiratory infection" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297913" "01895" "00405367" "00006" "Familial, autosomal recessive" "" "see paper; ..., 4d-tachypnea, hepatomegaly,\r\nlethargy, hypotonia" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297914" "01895" "00405368" "00006" "Familial, autosomal recessive" "17y" "see paper; ..., 9m-acute episode diagnosed as Reye-like syndrome" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297915" "01895" "00405384" "00006" "Familial, autosomal recessive" "" "see paper; ..., vomiting, hypotonia, hepato-\r\nmegaly, metabolic acidosis without ketosis" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297916" "01895" "00405385" "00006" "Familial, autosomal recessive" "" "see paper; ..., 2d-vomiting, convulsions, hypotonia, slight hepatomegaly, hypoglycaemia corrrected by intravenous glucoe administration" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297959" "01895" "00405428" "00006" "Familial, autosomal recessive" "" "see paper; ..., tachypnea, lethargy, hypotonia, convulsions" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297960" "01895" "00405429" "00006" "Familial, autosomal recessive" "04y04m" "see paper; ..., vomiting, lethargy, convulsions, hypoglycemia, liver dysfunction, metabolic acidosis, hyperammonemi; 4y4m-normal development" "" "" "7m" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297961" "01895" "00405430" "00006" "Familial, autosomal recessive" "9y10m" "see paper; ..., vomiting, drowsiness, hypoglycemia, metabolic acidosis, hyperammonemia; 9y10m-normal development" "" "" "1d" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297962" "01895" "00405431" "00006" "Familial, autosomal recessive" "3y8m" "see paper; ..., coma, convulsion, hypoglycemia, metabolic acidosis, hyperammonemia; 3y8m-normal development" "" "" "1y3m" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297963" "01895" "00405432" "00006" "Familial, autosomal recessive" "3y6m" "see paper; ..., drowsiness, hypoglycemia, metabolic acidosis, liver dysfunction; 3y6m-normal development" "" "" "1y2m" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297964" "01895" "00405433" "00006" "Familial, autosomal recessive" "04y09m" "see paper; ..., hypothermia, convulsions, hypoglycemia, metabolic acidosis, liver dysfunction; 4y9m-bilateral occipital porencephaly" "" "" "2d" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297969" "01895" "00405446" "00006" "Familial, autosomal recessive" "" "see paper; ..., 3d-metabolic acidosis, discharged with diagnosis tubular renal acidosis; 3m-vomiting, lethargy, hypotonia, hepatomegaly" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297970" "01895" "00405447" "00006" "Familial, autosomal recessive" "06y" "see paper; ..." "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297971" "01895" "00405448" "00006" "Familial, autosomal recessive" "04y" "see paper; ..." "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297972" "01895" "00405449" "00006" "Familial, autosomal recessive" "18y" "see paper; ..." "00y18m" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297973" "01895" "00405450" "00006" "Familial, autosomal recessive" "00y05m" "see paper; ..." "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297974" "01895" "00405451" "00006" "Familial, autosomal recessive" "" "see paper; ..., 48h-metabolic acidosis, hypoglycemia" "00y00m02d" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297975" "01895" "00405452" "00006" "Familial, autosomal recessive" "" "see paper; ..., 4m-aciduria, recurrent vomiting, muscular hypotonia, comatose attacks, hyperammonemia, liver dysfunction, massive excretion of organic acids typical of HMG-CoA lyase deficiency" "00y04m" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297976" "01895" "00405453" "00006" "Familial, autosomal recessive" "00y05m" "see paper; ..." "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297978" "01895" "00405455" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297979" "01895" "00405456" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297980" "01895" "00405457" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000297981" "01895" "00405458" "00006" "Familial, autosomal recessive" "00y08m" "see paper; ..., generalized tonic-clonic seizures" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298012" "01895" "00405489" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298013" "01895" "00405490" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298014" "01895" "00405491" "00006" "Familial, autosomal recessive" "09y" "seizures, hypoglycaemia, sepsis" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298015" "01895" "00405492" "00006" "Familial, autosomal recessive" "12y" "vomiting, hypoglycaemia, metabolic acidosis" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298016" "01895" "00405493" "00006" "Familial, autosomal recessive" "17y" "seizures, vomiting, metabolic acidosis, hyperammonaemia" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298017" "01895" "00405494" "00006" "Familial, autosomal recessive" "00y10m" "hypoglycaemia, hepatomegaly, metabolic acidosis" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298018" "01895" "00405495" "00006" "Familial, autosomal recessive" "15y" "see paper; ..., HL deficiency, tachypnea, hypothermia, hypoglycemia, metabolic acidosis, disturbed consciousness" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298019" "01895" "00405496" "00006" "Familial, autosomal recessive" "13y" "see paper; ..., 4m-respiratory tract infection, fevers, alternations in consciousness, hepatomegaly, metabolic acidosis, impaired liver function, hyperammonemia, hypoglycemia, generalized tonic and clonic convulsions" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298036" "01895" "00405513" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298037" "01895" "00405514" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298038" "01895" "00405515" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298039" "01895" "00405516" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298040" "01895" "00405517" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298041" "01895" "00405518" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298042" "01895" "00405519" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298043" "01895" "00405520" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298044" "01895" "00405521" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298045" "01895" "00405522" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298046" "01895" "00405523" "00006" "Familial, autosomal recessive" "03y" "see paper; ..." "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298047" "01895" "00405524" "00006" "Familial, autosomal recessive" "00y08m" "see paper; ..., macrocephaly, left ventricular noncompaction, recurrent pulmonary infections, nonketotic hypoglycemia, seizure, metabolic acidosis" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298048" "01895" "00405525" "00006" "Familial, autosomal recessive" "13y" "see paper; ..., 2d-hypoglycemia, epilepsy, developmental delay" "00y00m02d" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298049" "01895" "00405526" "00006" "Familial, autosomal recessive" "08y" "see paper; ..., 3m-vomiting, unconsciousness, achieved normal development" "00y03m" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298143" "01895" "00405620" "00006" "Familial, autosomal recessive" "05y" "hypoglycemia, metabolic acidosis, hyperammoniemia" "" "00y00m03d" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298144" "01895" "00405621" "00006" "Familial, autosomal recessive" "05y" "hypoglycemia, metabolic acidosis, hyperammoniemia" "" "00y03m" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298145" "01895" "00405622" "00006" "Familial, autosomal recessive" "04y" "" "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298146" "01895" "00405623" "00006" "Familial, autosomal recessive" "10y" "hypoglycemia, metabolic acidosis, hyperammoniemia" "" "1y" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298147" "01895" "00405624" "00006" "Familial, autosomal recessive" "4y" "" "" "<0d" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298148" "01895" "00405625" "00006" "Familial, autosomal recessive" "3y6m" "hypoglycemia" "" "11m" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298149" "01895" "00405626" "00006" "Familial, autosomal recessive" "00y01m" "hypoglycemia, metabolic acidosis, hyperammoniemia; 1m-deceased" "" "00y00m04d" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298150" "01895" "00405627" "00006" "Familial, autosomal recessive" "06y" "hypoglycemia, metabolic acidosis, no hyperammoniemia; 6y-deceased" "" "06y" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298151" "01895" "00405628" "00006" "Familial, autosomal recessive" "7y" "hypoglycemia, metabolic acidosis, hyperammoniemia" "" "2y" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298152" "01895" "00405629" "00006" "Familial, autosomal recessive" "1y" "" "" "1d" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298153" "01895" "00405630" "00006" "Familial, autosomal recessive" "3m" "hypoglycemia, metabolic acidosis, no hyperammoniemia" "" "3d" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298154" "01895" "00405631" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298155" "01895" "00405632" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298156" "01895" "00405633" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298157" "01895" "00405634" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298158" "01895" "00405635" "00006" "Familial, autosomal recessive" "" "see paper; ..., 1m-ypoglycemia (without\r\nketonuria, metabolic acidosis, hepatomegaly); 5m-vomiting, lethargy, hepatomegaly, respiratory disorders\r\nneeding ventilatory support" "00y01m" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298159" "01895" "00405636" "00006" "Familial, autosomal recessive" "11y" "mild neurological/cognitive disability" "4d" "2m" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298160" "01895" "00405637" "00006" "Familial, autosomal recessive" "5y5m" "no neurological/cognitive disability" "3d" "3d" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298161" "01895" "00405638" "00006" "Familial, autosomal recessive" "16y6m" "no neurological/cognitive disability" "4m" "4m" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298162" "01895" "00405639" "00006" "Familial, autosomal recessive" "1y7m" "no neurological/cognitive disability" "4d" "5d" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298163" "01895" "00405640" "00006" "Familial, autosomal recessive" "13y9m" "severe neurological/cognitive disability" "2d" "3d" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298164" "01895" "00405641" "00006" "Familial, autosomal recessive" "1y5m" "no neurological/cognitive disability" "9m" "10m" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298165" "01895" "00405642" "00006" "Familial, autosomal recessive" "12y5m" "no neurological/cognitive disability" "4m" "10m" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298166" "01895" "00405643" "00006" "Familial, autosomal recessive" "14y" "3y6m-deceased; severe neurological/cognitive disability" "3y6m" "3y6m" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298167" "01895" "00405644" "00006" "Familial, autosomal recessive" "8y10m" "no neurological/cognitive disability" "4m" "4m" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298168" "01895" "00405645" "00006" "Familial, autosomal recessive" "3y4m" "no neurological/cognitive disability" "3d" "7d" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298169" "01895" "00405646" "00006" "Familial, autosomal recessive" "8y6m" "moderate neurological/cognitive disability" "4d" "4d" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298170" "01895" "00405647" "00006" "Familial, autosomal recessive" "8y" "no neurological/cognitive disability" "3d" "7d" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298171" "01895" "00405648" "00006" "Familial, autosomal recessive" "22y6m" "no neurological/cognitive disability" "2d" "" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298172" "01895" "00405649" "00006" "Familial, autosomal recessive" "17y6m" "no neurological/cognitive disability" "" "<0d" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298173" "01895" "00405650" "00006" "Familial, autosomal recessive" "17y7m" "no neurological/cognitive disability" "2d" "2m" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298174" "01895" "00405651" "00006" "Familial, autosomal recessive" "15y11m" "no neurological/cognitive disability" "3d" "1y6m" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298175" "01895" "00405652" "00006" "Familial, autosomal recessive" "19y5m" "severe neurological/cognitive disability" "6m" "1y6m" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000298176" "01895" "00405653" "00006" "Familial, autosomal recessive" "23y5m" "mild neurological/cognitive disability" "4y" "7y" "" "" "" "" "" "HMGCLD" "HMG-CoA lyase deficiency" "0000339387" "01895" "00450326" "04221" "Familial, autosomal recessive" "00y09m" "Hypoglycemia, hyperammonemia" "" "00y10m" "" "" "" "" "" "HMG-CoA lyase deficiency" "3-Hydroxy-3-methylglutaric aciduria" "0000340192" "01895" "00451445" "04221" "Familial, autosomal recessive" "" "Acanthosis nigricans, frontal bossing, bradydactyly" "" "05y09m" "" "" "" "" "" "HMG-CoA lyase deficiency" "Aciduria" "0000340194" "01895" "00451457" "04221" "Familial, autosomal recessive" "" "" "" "00y01m04d" "" "" "" "" "" "HMG-CoA lyase deficiency" "HMG-CoA lyase deficiency" "0000340197" "02654" "00451460" "04221" "Familial, autosomal recessive" "" "" "" "00y05m09d" "" "" "" "" "" "HMG-CoA lyase deficiency" "HMG-CoA lyase deficiency" "0000340300" "01895" "00451639" "04221" "Familial, autosomal recessive" "" "Metabolic acidosis, cholestasis, steatosis. Lynch Syndrome" "" "04y06m" "" "" "" "" "" "HMG-CoA lyase deficiency" "3-Methylglutaric aciduria" ## Screenings ## Do not remove or alter this header ## ## Count = 157 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000406360" "00405118" "1" "00006" "00006" "2022-03-16 11:21:30" "00006" "2022-03-16 11:47:05" "RT-PCR;SEQ;SSCA" "DNA;RNA" "" "" "0000406362" "00405120" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406363" "00405121" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406364" "00405122" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406365" "00405123" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406366" "00405124" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406367" "00405125" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406368" "00405126" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406369" "00405127" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406370" "00405128" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406371" "00405129" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406372" "00405130" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406373" "00405131" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406374" "00405132" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406375" "00405133" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406376" "00405134" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406377" "00405135" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406378" "00405136" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406379" "00405137" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406380" "00405138" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406381" "00405139" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406382" "00405140" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406383" "00405141" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406384" "00405142" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406385" "00405143" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406386" "00405144" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406387" "00405145" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406388" "00405146" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406389" "00405147" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406390" "00405148" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406391" "00405149" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406392" "00405150" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406393" "00405151" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406394" "00405152" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406395" "00405153" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406396" "00405154" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406397" "00405155" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406398" "00405156" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406399" "00405157" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406400" "00405158" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406401" "00405159" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406402" "00405160" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406403" "00405161" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406404" "00405162" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406405" "00405163" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406406" "00405164" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406407" "00405165" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406408" "00405166" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406409" "00405167" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406410" "00405168" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406411" "00405169" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406412" "00405170" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406413" "00405171" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406414" "00405172" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406415" "00405173" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406416" "00405174" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406417" "00405175" "1" "03566" "00006" "2022-03-16 11:42:15" "" "" "SEQ" "DNA" "" "" "0000406604" "00405364" "1" "00006" "00006" "2022-03-17 16:41:20" "" "" "SEQ;SSCA" "DNA" "" "" "0000406605" "00405365" "1" "00006" "00006" "2022-03-17 16:48:34" "" "" "Southern" "DNA" "" "" "0000406606" "00405366" "1" "00006" "00006" "2022-03-17 16:55:16" "" "" "Southern" "DNA" "" "" "0000406607" "00405367" "1" "00006" "00006" "2022-03-17 17:10:22" "00006" "2022-03-17 17:40:45" "RT-PCR;SEQ;Southern" "DNA;RNA" "" "" "0000406608" "00405368" "1" "00006" "00006" "2022-03-17 17:22:31" "" "" "RT-PCR;SEQ;Southern" "DNA;RNA" "" "" "0000406609" "00405369" "1" "00006" "00006" "2022-03-17 17:34:57" "" "" "SEQ;SSCA" "DNA" "" "" "0000406611" "00405371" "1" "00006" "00006" "2022-03-17 17:34:57" "" "" "SEQ;SSCA" "DNA" "" "" "0000406612" "00405372" "1" "00006" "00006" "2022-03-17 17:34:57" "" "" "SEQ;SSCA" "DNA" "" "" "0000406613" "00405373" "1" "00006" "00006" "2022-03-17 17:34:57" "" "" "SEQ;SSCA" "DNA" "" "" "0000406614" "00405374" "1" "00006" "00006" "2022-03-17 17:34:57" "" "" "SEQ;SSCA" "DNA" "" "" "0000406615" "00405375" "1" "00006" "00006" "2022-03-17 17:34:57" "" "" "SEQ;SSCA" "DNA" "" "" "0000406616" "00405376" "1" "00006" "00006" "2022-03-17 17:34:57" "" "" "SEQ;SSCA" "DNA" "" "" "0000406617" "00405377" "1" "00006" "00006" "2022-03-17 17:34:57" "" "" "SEQ;SSCA" "DNA" "" "" "0000406618" "00405378" "1" "00006" "00006" "2022-03-17 17:34:57" "" "" "SEQ;SSCA" "DNA" "" "" "0000406619" "00405379" "1" "00006" "00006" "2022-03-17 17:34:57" "" "" "SEQ;SSCA" "DNA" "" "" "0000406620" "00405380" "1" "00006" "00006" "2022-03-17 17:34:57" "" "" "SEQ;SSCA" "DNA" "" "" "0000406621" "00405381" "1" "00006" "00006" "2022-03-17 17:34:57" "" "" "SEQ;SSCA" "DNA" "" "" "0000406622" "00405382" "1" "00006" "00006" "2022-03-17 17:34:57" "" "" "SEQ;SSCA" "DNA" "" "" "0000406623" "00405383" "1" "00006" "00006" "2022-03-17 17:34:57" "" "" "SEQ;SSCA" "DNA" "" "" "0000406624" "00405384" "1" "00006" "00006" "2022-03-17 18:00:58" "" "" "RT-PCR;SEQ;SSCA" "DNA;RNA" "" "" "0000406625" "00405385" "1" "00006" "00006" "2022-03-17 18:00:58" "" "" "RT-PCR;SEQ;SSCA" "DNA;RNA" "" "" "0000406668" "00405428" "1" "00006" "00006" "2022-03-17 20:35:32" "" "" "RT-PCR;SEQ;SSCA" "DNA;RNA" "" "" "0000406669" "00405429" "1" "00006" "00006" "2022-03-17 20:46:43" "" "" "RT-PCR;SEQ;Southern" "DNA;RNA" "" "" "0000406670" "00405430" "1" "00006" "00006" "2022-03-17 20:46:43" "" "" "RT-PCR;SEQ;Southern" "DNA;RNA" "" "" "0000406671" "00405431" "1" "00006" "00006" "2022-03-17 20:46:43" "" "" "RT-PCR;SEQ;Southern" "DNA;RNA" "" "" "0000406672" "00405432" "1" "00006" "00006" "2022-03-17 20:46:43" "" "" "RT-PCR;SEQ;Southern" "DNA;RNA" "" "" "0000406673" "00405433" "1" "00006" "00006" "2022-03-17 20:46:43" "" "" "RT-PCR;SEQ;Southern" "DNA;RNA" "" "" "0000406686" "00405446" "1" "00006" "00006" "2022-03-18 09:06:44" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000406687" "00405447" "1" "00006" "00006" "2022-03-18 09:13:17" "" "" "SEQ" "DNA" "" "" "0000406688" "00405448" "1" "00006" "00006" "2022-03-18 09:15:35" "" "" "SEQ" "DNA" "" "" "0000406689" "00405449" "1" "00006" "00006" "2022-03-18 09:19:54" "" "" "SEQ" "DNA" "" "" "0000406690" "00405450" "1" "00006" "00006" "2022-03-18 09:37:00" "" "" "SEQ" "DNA" "" "" "0000406691" "00405451" "1" "00006" "00006" "2022-03-18 09:37:00" "" "" "SEQ" "DNA" "" "" "0000406692" "00405452" "1" "00006" "00006" "2022-03-18 09:37:00" "" "" "SEQ" "DNA" "" "" "0000406693" "00405453" "1" "00006" "00006" "2022-03-18 09:37:00" "" "" "SEQ" "DNA" "" "" "0000406694" "00405455" "1" "00006" "00006" "2022-03-18 09:57:44" "" "" "SEQ" "DNA" "" "" "0000406695" "00405456" "1" "00006" "00006" "2022-03-18 09:58:00" "" "" "SEQ" "DNA" "" "" "0000406697" "00405457" "1" "00006" "00006" "2022-03-18 09:58:10" "" "" "SEQ" "DNA" "" "" "0000406698" "00405458" "1" "00006" "00006" "2022-03-18 09:58:19" "" "" "SEQ" "DNA" "" "" "0000406729" "00405489" "1" "00006" "00006" "2022-03-18 13:53:48" "" "" "SEQ" "DNA" "" "" "0000406730" "00405490" "1" "00006" "00006" "2022-03-18 13:53:58" "" "" "SEQ" "DNA" "" "" "0000406731" "00405491" "1" "00006" "00006" "2022-03-18 14:03:54" "" "" "SEQ" "DNA" "" "" "0000406732" "00405492" "1" "00006" "00006" "2022-03-18 14:08:50" "" "" "SEQ" "DNA" "" "" "0000406733" "00405493" "1" "00006" "00006" "2022-03-18 14:12:54" "" "" "SEQ" "DNA" "" "" "0000406734" "00405494" "1" "00006" "00006" "2022-03-18 14:16:46" "" "" "SEQ" "DNA" "" "" "0000406735" "00405495" "1" "00006" "00006" "2022-03-18 14:20:22" "" "" "SEQ" "DNA" "" "" "0000406736" "00405496" "1" "00006" "00006" "2022-03-18 14:20:43" "" "" "SEQ" "DNA" "" "" "0000406753" "00405513" "1" "00006" "00006" "2022-03-18 15:16:24" "" "" "SEQ" "DNA" "" "" "0000406754" "00405514" "1" "00006" "00006" "2022-03-18 15:16:24" "" "" "SEQ" "DNA" "" "" "0000406755" "00405515" "1" "00006" "00006" "2022-03-18 15:16:24" "" "" "SEQ" "DNA" "" "" "0000406756" "00405516" "1" "00006" "00006" "2022-03-18 15:16:24" "" "" "SEQ" "DNA" "" "" "0000406757" "00405517" "1" "00006" "00006" "2022-03-18 15:16:24" "" "" "SEQ" "DNA" "" "" "0000406758" "00405518" "1" "00006" "00006" "2022-03-18 15:16:24" "" "" "SEQ" "DNA" "" "" "0000406759" "00405519" "1" "00006" "00006" "2022-03-18 15:16:24" "" "" "SEQ" "DNA" "" "" "0000406760" "00405520" "1" "00006" "00006" "2022-03-18 15:16:24" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000406761" "00405521" "1" "00006" "00006" "2022-03-18 15:16:24" "" "" "SEQ" "DNA" "" "" "0000406762" "00405522" "1" "00006" "00006" "2022-03-18 15:16:24" "" "" "SEQ" "DNA" "" "" "0000406763" "00405523" "1" "00006" "00006" "2022-03-18 15:25:56" "" "" "SEQ" "DNA" "" "" "0000406764" "00405524" "1" "00006" "00006" "2022-03-18 16:58:33" "" "" "SEQ" "DNA" "" "" "0000406765" "00405525" "1" "00006" "00006" "2022-03-18 17:09:01" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000406766" "00405526" "1" "00006" "00006" "2022-03-18 17:21:34" "" "" "arrayCGH;MLPA;SEQ" "DNA" "" "" "0000406860" "00405620" "1" "00006" "00006" "2022-03-19 20:37:45" "" "" "SEQ" "DNA" "" "" "0000406861" "00405621" "1" "00006" "00006" "2022-03-19 20:42:53" "" "" "SEQ" "DNA" "" "" "0000406862" "00405622" "1" "00006" "00006" "2022-03-19 20:54:42" "" "" "SEQ" "DNA" "" "" "0000406863" "00405623" "1" "00006" "00006" "2022-03-19 20:55:34" "" "" "SEQ" "DNA" "" "" "0000406864" "00405624" "1" "00006" "00006" "2022-03-19 20:59:47" "" "" "SEQ" "DNA" "" "" "0000406865" "00405625" "1" "00006" "00006" "2022-03-19 21:01:23" "" "" "SEQ" "DNA" "" "" "0000406866" "00405626" "1" "00006" "00006" "2022-03-19 21:03:34" "" "" "SEQ" "DNA" "" "" "0000406867" "00405627" "1" "00006" "00006" "2022-03-19 21:07:03" "" "" "SEQ" "DNA" "" "" "0000406868" "00405628" "1" "00006" "00006" "2022-03-19 21:14:02" "" "" "SEQ" "DNA" "" "" "0000406869" "00405629" "1" "00006" "00006" "2022-03-19 21:17:03" "" "" "SEQ" "DNA" "" "" "0000406870" "00405630" "1" "00006" "00006" "2022-03-19 21:18:31" "" "" "SEQ" "DNA" "" "" "0000406871" "00405631" "1" "00006" "00006" "2022-03-20 10:43:01" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000406872" "00405632" "1" "00006" "00006" "2022-03-20 10:43:01" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000406873" "00405633" "1" "00006" "00006" "2022-03-20 10:43:01" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000406874" "00405634" "1" "00006" "00006" "2022-03-20 10:43:01" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000406875" "00405635" "1" "00006" "00006" "2022-03-20 11:04:55" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000406876" "00405636" "1" "00006" "00006" "2022-03-20 11:49:41" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000406877" "00405637" "1" "00006" "00006" "2022-03-20 11:49:41" "" "" "SEQ" "DNA" "" "" "0000406878" "00405638" "1" "00006" "00006" "2022-03-20 11:49:41" "" "" "SEQ" "DNA" "" "" "0000406879" "00405639" "1" "00006" "00006" "2022-03-20 11:49:41" "" "" "SEQ" "DNA" "" "" "0000406880" "00405640" "1" "00006" "00006" "2022-03-20 11:49:41" "" "" "SEQ" "DNA" "" "" "0000406881" "00405641" "1" "00006" "00006" "2022-03-20 11:49:41" "" "" "SEQ" "DNA" "" "" "0000406882" "00405642" "1" "00006" "00006" "2022-03-20 11:49:41" "" "" "SEQ" "DNA" "" "" "0000406883" "00405643" "1" "00006" "00006" "2022-03-20 11:49:41" "" "" "SEQ" "DNA" "" "" "0000406884" "00405644" "1" "00006" "00006" "2022-03-20 11:49:41" "" "" "SEQ" "DNA" "" "" "0000406885" "00405645" "1" "00006" "00006" "2022-03-20 11:49:41" "" "" "SEQ" "DNA" "" "" "0000406886" "00405646" "1" "00006" "00006" "2022-03-20 11:49:41" "" "" "SEQ" "DNA" "" "" "0000406887" "00405647" "1" "00006" "00006" "2022-03-20 11:49:41" "" "" "SEQ" "DNA" "" "" "0000406888" "00405648" "1" "00006" "00006" "2022-03-20 11:49:41" "" "" "SEQ" "DNA" "" "" "0000406889" "00405649" "1" "00006" "00006" "2022-03-20 11:49:41" "" "" "SEQ" "DNA" "" "" "0000406890" "00405650" "1" "00006" "00006" "2022-03-20 11:49:41" "" "" "SEQ" "DNA" "" "" "0000406891" "00405651" "1" "00006" "00006" "2022-03-20 11:49:41" "" "" "SEQ" "DNA" "" "" "0000406892" "00405652" "1" "00006" "00006" "2022-03-20 11:49:41" "" "" "SEQ" "DNA" "" "" "0000406893" "00405653" "1" "00006" "00006" "2022-03-20 11:54:15" "" "" "SEQ" "DNA" "" "" "0000451923" "00450326" "1" "04221" "04221" "2024-05-25 01:18:56" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" "0000453045" "00451445" "1" "04221" "04221" "2024-06-04 23:24:20" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" "0000453056" "00451457" "1" "04221" "04221" "2024-06-06 20:41:36" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" "0000453061" "00451460" "1" "04221" "04221" "2024-06-06 23:12:59" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" "0000453241" "00451639" "1" "04221" "04221" "2024-06-18 03:14:45" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 157 "{{screeningid}}" "{{geneid}}" "0000406360" "HMGCL" "0000406362" "HMGCL" "0000406363" "HMGCL" "0000406364" "HMGCL" "0000406365" "HMGCL" "0000406366" "HMGCL" "0000406367" "HMGCL" "0000406368" "HMGCL" "0000406369" "HMGCL" "0000406370" "HMGCL" "0000406371" "HMGCL" "0000406372" "HMGCL" "0000406373" "HMGCL" "0000406374" "HMGCL" "0000406375" "HMGCL" "0000406376" "HMGCL" "0000406377" "HMGCL" "0000406378" "HMGCL" "0000406379" "HMGCL" "0000406380" "HMGCL" "0000406381" "HMGCL" "0000406382" "HMGCL" "0000406383" "HMGCL" "0000406384" "HMGCL" "0000406385" "HMGCL" "0000406386" "HMGCL" "0000406387" "HMGCL" "0000406388" "HMGCL" "0000406389" "HMGCL" "0000406390" "HMGCL" "0000406391" "HMGCL" "0000406392" "HMGCL" "0000406393" "HMGCL" "0000406394" "HMGCL" "0000406395" "HMGCL" "0000406396" "HMGCL" "0000406397" "HMGCL" "0000406398" "HMGCL" "0000406399" "HMGCL" "0000406400" "HMGCL" "0000406401" "HMGCL" "0000406402" "HMGCL" "0000406403" "HMGCL" "0000406404" "HMGCL" "0000406405" "HMGCL" "0000406406" "HMGCL" "0000406407" "HMGCL" "0000406408" "HMGCL" "0000406409" "HMGCL" "0000406410" "HMGCL" "0000406411" "HMGCL" "0000406412" "HMGCL" "0000406413" "HMGCL" "0000406414" "HMGCL" "0000406415" "HMGCL" "0000406416" "HMGCL" "0000406417" "HMGCL" "0000406604" "HMGCL" "0000406605" "HMGCL" "0000406606" "HMGCL" "0000406607" "HMGCL" "0000406608" "HMGCL" "0000406609" "HMGCL" "0000406611" "HMGCL" "0000406612" "HMGCL" "0000406613" "HMGCL" "0000406614" "HMGCL" "0000406615" "HMGCL" "0000406616" "HMGCL" "0000406617" "HMGCL" "0000406618" "HMGCL" "0000406619" "HMGCL" "0000406620" "HMGCL" "0000406621" "HMGCL" "0000406622" "HMGCL" "0000406623" "HMGCL" "0000406624" "HMGCL" "0000406625" "HMGCL" "0000406668" "HMGCL" "0000406669" "HMGCL" "0000406670" "HMGCL" "0000406671" "HMGCL" "0000406672" "HMGCL" "0000406673" "HMGCL" "0000406686" "HMGCL" "0000406687" "HMGCL" "0000406688" "HMGCL" "0000406689" "HMGCL" "0000406690" "HMGCL" "0000406691" "HMGCL" "0000406692" "HMGCL" "0000406693" "HMGCL" "0000406694" "HMGCL" "0000406695" "HMGCL" "0000406697" "HMGCL" "0000406698" "HMGCL" "0000406729" "HMGCL" "0000406730" "HMGCL" "0000406731" "HMGCL" "0000406732" "HMGCL" "0000406733" "HMGCL" "0000406734" "HMGCL" "0000406735" "HMGCL" "0000406736" "HMGCL" "0000406753" "HMGCL" "0000406754" "HMGCL" "0000406755" "HMGCL" "0000406756" "HMGCL" "0000406757" "HMGCL" "0000406758" "HMGCL" "0000406759" "HMGCL" "0000406760" "HMGCL" "0000406761" "HMGCL" "0000406762" "HMGCL" "0000406763" "HMGCL" "0000406764" "HMGCL" "0000406765" "HMGCL" "0000406766" "HMGCL" "0000406860" "HMGCL" "0000406861" "HMGCL" "0000406862" "HMGCL" "0000406863" "HMGCL" "0000406864" "HMGCL" "0000406865" "HMGCL" "0000406866" "HMGCL" "0000406867" "HMGCL" "0000406868" "HMGCL" "0000406869" "HMGCL" "0000406870" "HMGCL" "0000406871" "HMGCL" "0000406872" "HMGCL" "0000406873" "HMGCL" "0000406874" "HMGCL" "0000406875" "HMGCL" "0000406876" "HMGCL" "0000406877" "HMGCL" "0000406878" "HMGCL" "0000406879" "HMGCL" "0000406880" "HMGCL" "0000406881" "HMGCL" "0000406882" "HMGCL" "0000406883" "HMGCL" "0000406884" "HMGCL" "0000406885" "HMGCL" "0000406886" "HMGCL" "0000406887" "HMGCL" "0000406888" "HMGCL" "0000406889" "HMGCL" "0000406890" "HMGCL" "0000406891" "HMGCL" "0000406892" "HMGCL" "0000406893" "HMGCL" "0000451923" "HMGCL" "0000453045" "HMGCL" "0000453056" "HMGCL" "0000453061" "HMGCL" "0000453241" "HMGCL" ## 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 = 203 "{{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}}" "0000281380" "0" "10" "1" "24134721" "24134721" "subst" "0.902742" "02325" "HMGCL_000003" "g.24134721T>C" "" "" "" "HMGCL(NM_000191.3):c.654A>G (p.L218=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23808231T>C" "" "benign" "" "0000281381" "0" "50" "1" "24130961" "24130961" "subst" "4.06078E-6" "02325" "HMGCL_000002" "g.24130961C>T" "" "" "" "HMGCL(NM_000191.3):c.805G>A (p.A269T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23804471C>T" "" "VUS" "" "0000320646" "0" "50" "1" "24128981" "24128981" "subst" "2.43639E-5" "01804" "HMGCL_000001" "g.24128981T>C" "" "" "" "HMGCL(NM_000191.2):c.950A>G (p.(Lys317Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23802491T>C" "" "VUS" "" "0000506614" "0" "90" "1" "24130889" "24130889" "subst" "0" "02327" "HMGCL_000014" "g.24130889C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23804399C>G" "" "pathogenic" "" "0000506615" "0" "10" "1" "24134721" "24134721" "subst" "0.902742" "02327" "HMGCL_000003" "g.24134721T>C" "" "" "" "HMGCL(NM_000191.3):c.654A>G (p.L218=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23808231T>C" "" "benign" "" "0000506616" "0" "50" "1" "24143169" "24143169" "subst" "0" "01943" "HMGCL_000005" "g.24143169G>A" "" "" "" "HMGCL(NM_000191.2):c.344C>T (p.A115V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23816679G>A" "" "VUS" "" "0000506617" "0" "90" "1" "24147022" "24147022" "subst" "2.43643E-5" "02325" "HMGCL_000004" "g.24147022C>T" "" "" "" "HMGCL(NM_000191.3):c.122G>A (p.R41Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23820532C>T" "" "pathogenic" "" "0000506618" "0" "30" "1" "24147056" "24147056" "subst" "0" "01804" "HMGCL_000006" "g.24147056G>A" "" "" "" "HMGCL(NM_000191.2):c.88C>T (p.(Pro30Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23820566G>A" "" "likely benign" "" "0000605579" "0" "50" "1" "24134725" "24134725" "subst" "0" "01804" "HMGCL_000007" "g.24134725A>C" "" "" "" "HMGCL(NM_000191.2):c.650T>G (p.(Met217Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23808235A>C" "" "VUS" "" "0000605580" "0" "50" "1" "24140831" "24140831" "subst" "2.84426E-5" "01943" "HMGCL_000008" "g.24140831G>T" "" "" "" "HMGCL(NM_000191.2):c.349-3C>A, HMGCL(NM_000191.3):c.349-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23814341G>T" "" "VUS" "" "0000620588" "0" "30" "1" "24144055" "24144055" "subst" "0" "01943" "HMGCL_000009" "g.24144055C>G" "" "" "" "HMGCL(NM_000191.2):c.163G>C (p.V55L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23817565C>G" "" "likely benign" "" "0000653975" "0" "30" "1" "24131018" "24131018" "subst" "4.06405E-6" "01943" "HMGCL_000015" "g.24131018A>G" "" "" "" "HMGCL(NM_000191.2):c.751-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23804528A>G" "" "likely benign" "" "0000717357" "0" "30" "1" "24123647" "24123647" "subst" "6.06621E-5" "01943" "GALE_000009" "g.24123647G>A" "" "" "" "GALE(NM_000403.3):c.529-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799238" "0" "50" "1" "24125479" "24125479" "subst" "0" "01943" "GALE_000011" "g.24125479C>G" "" "" "" "GALE(NM_000403.3):c.19G>C (p.V7L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799239" "0" "30" "1" "24134712" "24134712" "subst" "0.000211217" "01943" "HMGCL_000010" "g.24134712G>A" "" "" "" "HMGCL(NM_000191.2):c.663C>T (p.V221=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000842682" "3" "90" "1" "24144015" "24144016" "del" "0" "00006" "HMGCL_000011" "g.24144015_24144016del" "" "{PMID:Mitchell 1993:8440722}" "" "" "" "Germline" "yes" "" "0" "" "" "g.23817525_23817526del" "" "pathogenic (recessive)" "" "0000842685" "3" "90" "1" "24144015" "24144016" "del" "0" "03566" "HMGCL_000011" "g.24144015_24144016del" "" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Germline" "" "" "0" "" "" "g.23817525_23817526del" "" "pathogenic (recessive)" "" "0000842686" "3" "90" "1" "24144015" "24144016" "del" "0" "03566" "HMGCL_000011" "g.24144015_24144016del" "" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Germline" "" "" "0" "" "" "g.23817525_23817526del" "" "pathogenic (recessive)" "" "0000842687" "3" "90" "1" "24144015" "24144016" "del" "0" "03566" "HMGCL_000011" "g.24144015_24144016del" "" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Germline" "" "" "0" "" "" "g.23817525_23817526del" "" "pathogenic (recessive)" "" "0000842688" "3" "90" "1" "24144015" "24144016" "del" "0" "03566" "HMGCL_000011" "g.24144015_24144016del" "" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Germline" "" "" "0" "" "" "g.23817525_23817526del" "" "pathogenic (recessive)" "" "0000842689" "3" "90" "1" "24144015" "24144016" "del" "0" "03566" "HMGCL_000011" "g.24144015_24144016del" "" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Germline" "" "" "0" "" "" "g.23817525_23817526del" "" "pathogenic (recessive)" "" "0000842690" "3" "90" "1" "24129017" "24129018" "del" "0" "03566" "HMGCL_000012" "g.24129017_24129018del" "" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "914_915delTT" "" "Germline" "" "" "0" "" "" "g.23802527_23802528del" "" "pathogenic (recessive)" "" "0000842691" "3" "90" "1" "24129017" "24129018" "del" "0" "03566" "HMGCL_000012" "g.24129017_24129018del" "" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "914_915delTT" "" "Germline" "" "" "0" "" "" "g.23802527_23802528del" "" "pathogenic (recessive)" "" "0000842692" "3" "90" "1" "24134776" "24134776" "subst" "0" "03566" "HMGCL_000013" "g.24134776A>T" "" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Germline" "" "" "0" "" "" "g.23808286A>T" "" "pathogenic (recessive)" "" "0000842693" "3" "90" "1" "24147022" "24147022" "subst" "2.43643E-5" "03566" "HMGCL_000004" "g.24147022C>T" "" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Germline" "" "" "0" "" "" "g.23820532C>T" "" "pathogenic (recessive)" "" "0000842694" "3" "90" "1" "24147022" "24147022" "subst" "2.43643E-5" "03566" "HMGCL_000004" "g.24147022C>T" "" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Germline" "" "" "0" "" "" "g.23820532C>T" "" "pathogenic (recessive)" "" "0000842695" "3" "90" "1" "24147022" "24147022" "subst" "2.43643E-5" "03566" "HMGCL_000004" "g.24147022C>T" "" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Germline" "" "" "0" "" "" "g.23820532C>T" "" "pathogenic (recessive)" "" "0000842696" "3" "90" "1" "24147022" "24147022" "subst" "2.43643E-5" "03566" "HMGCL_000004" "g.24147022C>T" "" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Germline" "" "" "0" "" "" "g.23820532C>T" "" "pathogenic (recessive)" "" "0000842697" "3" "90" "1" "24147022" "24147022" "subst" "2.43643E-5" "03566" "HMGCL_000004" "g.24147022C>T" "" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Germline" "" "" "0" "" "" "g.23820532C>T" "" "pathogenic (recessive)" "" "0000842698" "3" "90" "1" "24147022" "24147022" "subst" "2.43643E-5" "03566" "HMGCL_000004" "g.24147022C>T" "" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Germline" "" "" "0" "" "" "g.23820532C>T" "" "pathogenic (recessive)" "" "0000842699" "3" "90" "1" "24147022" "24147022" "subst" "2.43643E-5" "03566" "HMGCL_000004" "g.24147022C>T" "" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Germline" "" "" "0" "" "" "g.23820532C>T" "" "pathogenic (recessive)" "" "0000842700" "3" "90" "1" "24147022" "24147022" "subst" "2.43643E-5" "03566" "HMGCL_000004" "g.24147022C>T" "" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Germline" "" "" "0" "" "" "g.23820532C>T" "" "pathogenic (recessive)" "" "0000842701" "3" "90" "1" "24147022" "24147022" "subst" "2.43643E-5" "03566" "HMGCL_000004" "g.24147022C>T" "" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Germline" "" "" "0" "" "" "g.23820532C>T" "" "pathogenic (recessive)" "" "0000842702" "3" "90" "1" "24147022" "24147022" "subst" "2.43643E-5" "03566" "HMGCL_000004" "g.24147022C>T" "" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Germline" "" "" "0" "" "" "g.23820532C>T" "" "pathogenic (recessive)" "" "0000842703" "3" "90" "1" "24147022" "24147022" "subst" "2.43643E-5" "03566" "HMGCL_000004" "g.24147022C>T" "" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Germline" "" "" "0" "" "" "g.23820532C>T" "" "pathogenic (recessive)" "" "0000842704" "3" "90" "1" "24147022" "24147022" "subst" "2.43643E-5" "03566" "HMGCL_000004" "g.24147022C>T" "" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Germline" "" "" "0" "" "" "g.23820532C>T" "" "pathogenic (recessive)" "" "0000842705" "3" "90" "1" "24147022" "24147022" "subst" "2.43643E-5" "03566" "HMGCL_000004" "g.24147022C>T" "" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Germline" "" "" "0" "" "" "g.23820532C>T" "" "pathogenic (recessive)" "" "0000842706" "3" "90" "1" "24147022" "24147022" "subst" "2.43643E-5" "03566" "HMGCL_000004" "g.24147022C>T" "" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Germline" "" "" "0" "" "" "g.23820532C>T" "" "pathogenic (recessive)" "" "0000842707" "3" "90" "1" "24147022" "24147022" "subst" "2.43643E-5" "03566" "HMGCL_000004" "g.24147022C>T" "" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Germline" "" "" "0" "" "" "g.23820532C>T" "" "pathogenic (recessive)" "" "0000842708" "3" "90" "1" "24147022" "24147022" "subst" "2.43643E-5" "03566" "HMGCL_000004" "g.24147022C>T" "" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Germline" "" "" "0" "" "" "g.23820532C>T" "" "pathogenic (recessive)" "" "0000842709" "3" "90" "1" "24147022" "24147022" "subst" "2.43643E-5" "03566" "HMGCL_000004" "g.24147022C>T" "" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Germline" "" "" "0" "" "" "g.23820532C>T" "" "pathogenic (recessive)" "" "0000842710" "3" "90" "1" "24147022" "24147022" "subst" "2.43643E-5" "03566" "HMGCL_000004" "g.24147022C>T" "" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Germline" "" "" "0" "" "" "g.23820532C>T" "" "pathogenic (recessive)" "" "0000842711" "3" "90" "1" "24147022" "24147022" "subst" "2.43643E-5" "03566" "HMGCL_000004" "g.24147022C>T" "" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Germline" "" "" "0" "" "" "g.23820532C>T" "" "pathogenic (recessive)" "" "0000842712" "3" "90" "1" "24147022" "24147022" "subst" "2.43643E-5" "03566" "HMGCL_000004" "g.24147022C>T" "" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Germline" "" "" "0" "" "" "g.23820532C>T" "" "pathogenic (recessive)" "" "0000842713" "3" "90" "1" "24147022" "24147022" "subst" "2.43643E-5" "03566" "HMGCL_000004" "g.24147022C>T" "" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Germline" "" "" "0" "" "" "g.23820532C>T" "" "pathogenic (recessive)" "" "0000842714" "3" "90" "1" "24147022" "24147022" "subst" "2.43643E-5" "03566" "HMGCL_000004" "g.24147022C>T" "" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Germline" "" "" "0" "" "" "g.23820532C>T" "" "pathogenic (recessive)" "" "0000842715" "3" "90" "1" "24147022" "24147022" "subst" "2.43643E-5" "03566" "HMGCL_000004" "g.24147022C>T" "" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Germline" "" "" "0" "" "" "g.23820532C>T" "" "pathogenic (recessive)" "" "0000842716" "3" "90" "1" "24147022" "24147022" "subst" "2.43643E-5" "03566" "HMGCL_000004" "g.24147022C>T" "" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Germline" "" "" "0" "" "" "g.23820532C>T" "" "pathogenic (recessive)" "" "0000842717" "3" "90" "1" "24147022" "24147022" "subst" "2.43643E-5" "03566" "HMGCL_000004" "g.24147022C>T" "" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" 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"" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Germline" "" "" "0" "" "" "g.23820532C>T" "" "pathogenic (recessive)" "" "0000842722" "3" "90" "1" "24147022" "24147022" "subst" "2.43643E-5" "03566" "HMGCL_000004" "g.24147022C>T" "" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Germline" "" "" "0" "" "" "g.23820532C>T" "" "pathogenic (recessive)" "" "0000842723" "3" "90" "1" "24147022" "24147022" "subst" "2.43643E-5" "03566" "HMGCL_000004" "g.24147022C>T" "" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Germline" "" "" "0" "" "" "g.23820532C>T" "" "pathogenic (recessive)" "" "0000842724" "3" "90" "1" "24147022" "24147022" "subst" "2.43643E-5" "03566" "HMGCL_000004" "g.24147022C>T" "" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Germline" "" "" "0" "" "" "g.23820532C>T" "" "pathogenic (recessive)" "" "0000842725" "3" "90" "1" "24147022" "24147022" "subst" "2.43643E-5" "03566" "HMGCL_000004" "g.24147022C>T" "" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Germline" "" "" "0" "" "" "g.23820532C>T" "" "pathogenic (recessive)" "" "0000842726" "3" "90" "1" "24147022" "24147022" "subst" "2.43643E-5" "03566" "HMGCL_000004" "g.24147022C>T" "" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Germline" "" "" "0" "" "" "g.23820532C>T" "" "pathogenic (recessive)" "" "0000842727" "3" "90" "1" "24147022" "24147022" "subst" "2.43643E-5" "03566" "HMGCL_000004" "g.24147022C>T" "" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Germline" "" "" "0" "" "" "g.23820532C>T" "" "pathogenic (recessive)" "" "0000842728" "3" "90" "1" "24147022" "24147022" "subst" "2.43643E-5" "03566" "HMGCL_000004" "g.24147022C>T" "" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Germline" "" "" "0" "" "" "g.23820532C>T" "" "pathogenic (recessive)" "" "0000842729" "3" "90" "1" "24147022" "24147022" "subst" "2.43643E-5" "03566" "HMGCL_000004" "g.24147022C>T" "" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Germline" "" "" "0" "" "" "g.23820532C>T" "" "pathogenic (recessive)" "" "0000842730" "3" "90" "1" "24147022" "24147022" "subst" "2.43643E-5" "03566" "HMGCL_000004" "g.24147022C>T" "" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Germline" "" "" "0" "" "" "g.23820532C>T" "" "pathogenic (recessive)" "" "0000842731" "3" "90" "1" "24147022" "24147022" "subst" "2.43643E-5" "03566" "HMGCL_000004" "g.24147022C>T" "" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Germline" "" "" "0" "" "" "g.23820532C>T" "" "pathogenic (recessive)" "" "0000842732" "3" "90" "1" "24147022" "24147022" "subst" "2.43643E-5" "03566" "HMGCL_000004" "g.24147022C>T" "" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Germline" "" "" "0" "" "" "g.23820532C>T" "" "pathogenic (recessive)" "" "0000842733" "3" "90" "1" "24147022" "24147022" "subst" "2.43643E-5" "03566" "HMGCL_000004" "g.24147022C>T" "" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Germline" "" "" "0" "" "" "g.23820532C>T" "" "pathogenic (recessive)" "" "0000842734" "3" "90" "1" "24147022" "24147022" "subst" "2.43643E-5" "03566" "HMGCL_000004" "g.24147022C>T" "" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Germline" "" "" "0" "" "" "g.23820532C>T" "" "pathogenic (recessive)" "" "0000842735" "3" "90" "1" "24147022" "24147022" "subst" "2.43643E-5" "03566" "HMGCL_000004" "g.24147022C>T" "" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Germline" "" "" "0" "" "" "g.23820532C>T" "" "pathogenic (recessive)" "" "0000842736" "3" "90" "1" "24147022" "24147022" "subst" "2.43643E-5" "03566" "HMGCL_000004" "g.24147022C>T" "" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Germline" "" "" "0" "" "" "g.23820532C>T" "" "pathogenic (recessive)" "" "0000842737" "3" "90" "1" "24147022" "24147022" "subst" "2.43643E-5" "03566" "HMGCL_000004" "g.24147022C>T" "" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Germline" "" "" "0" "" "" "g.23820532C>T" "" "pathogenic (recessive)" "" "0000842738" "3" "90" "1" "24147022" "24147022" "subst" "2.43643E-5" "03566" "HMGCL_000004" "g.24147022C>T" "" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Germline" "" "" "0" "" "" "g.23820532C>T" "" "pathogenic (recessive)" "" "0000842739" "3" "90" "1" "24147022" "24147022" "subst" "2.43643E-5" "03566" "HMGCL_000004" "g.24147022C>T" "" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Germline" "" "" "0" "" "" "g.23820532C>T" "" "pathogenic (recessive)" "" "0000842740" "3" "90" "1" "24147022" "24147022" "subst" "2.43643E-5" "03566" "HMGCL_000004" "g.24147022C>T" "" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Germline" "" "" "0" "" "" "g.23820532C>T" "" "pathogenic (recessive)" "" "0000842962" "3" "90" "1" "24147010" "24147010" "dup" "0" "00006" "HMGCL_000016" "g.24147010dup" "" "{PMID:Mitchell 1995:7479590}" "" "134-137insA" "" "Germline" "" "" "0" "" "" "g.23820520dup" "" "pathogenic (recessive)" "" "0000842963" "3" "90" "1" "24137225" "24144074" "del" "0" "00006" "HMGCL_000017" "g.(24134814_24137225)_(24144074_24146999)del" "" "{PMID:Wang 1996:8617516}" "" "del ex3-6" "" "Germline" "" "" "0" "" "" "g.(23808324_23810735)_(23817584_23820509)del" "" "pathogenic (recessive)" "" "0000842964" "3" "90" "1" "24137225" "24147084" "del" "0" "00006" "HMGCL_000018" "g.(24134814_24137225)_(24147084_?)del" "" "{PMID:Wang 1996:8617516}" "" "del ex(1_2)-6" "" "Germline" "" "" "0" "" "" "g.(23808324_23810735)_(23820594_?)del" "" "pathogenic (recessive)" "" "0000842965" "3" "90" "1" "24130889" "24130889" "subst" "0" "00006" "HMGCL_000014" "g.24130889C>G" "" "{PMID:Buesa 1996:8978493}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000842966" "3" "90" "1" "24137283" "24137284" "del" "0" "00006" "HMGCL_000019" "g.24137283_24137284del" "" "{PMID:Casals 1997:9392428}" "" "" "" "Germline" "" "" "0" "" "" "g.23810793_23810794del" "" "pathogenic (recessive)" "" "0000842967" "3" "90" "1" "24147022" "24147022" "subst" "2.43643E-5" "00006" "HMGCL_000004" "g.24147022C>T" "" "{PMID:Mitchell 1998:9463337}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000842968" "3" "90" "1" "24147022" "24147022" "subst" "2.43643E-5" "00006" "HMGCL_000004" "g.24147022C>T" "" "{PMID:Mitchell 1998:9463337}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000842969" "3" "90" "1" "24147022" "24147022" "subst" "2.43643E-5" "00006" "HMGCL_000004" "g.24147022C>T" "" "{PMID:Mitchell 1998:9463337}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000842970" "3" "90" "1" "24147022" "24147022" "subst" "2.43643E-5" "00006" "HMGCL_000004" "g.24147022C>T" "" "{PMID:Mitchell 1998:9463337}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000842971" "3" "90" "1" "24147022" "24147022" "subst" "2.43643E-5" "00006" "HMGCL_000004" "g.24147022C>T" "" "{PMID:Mitchell 1998:9463337}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000842972" "3" "90" "1" "24147022" "24147022" "subst" "2.43643E-5" "00006" "HMGCL_000004" "g.24147022C>T" "" "{PMID:Mitchell 1998:9463337}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000842973" "3" "90" "1" "24147022" "24147022" "subst" "2.43643E-5" "00006" "HMGCL_000004" "g.24147022C>T" "" "{PMID:Mitchell 1998:9463337}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000842974" "3" "90" "1" "24147022" "24147022" "subst" "2.43643E-5" "00006" "HMGCL_000004" "g.24147022C>T" "" "{PMID:Mitchell 1998:9463337}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000842975" "1" "90" "1" "24147022" "24147022" "subst" "2.43643E-5" "00006" "HMGCL_000004" "g.24147022C>T" "" "{PMID:Mitchell 1998:9463337}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000842976" "3" "90" "1" "24147019" "24147019" "subst" "4.06068E-6" "00006" "HMGCL_000020" "g.24147019T>C" "" "{PMID:Mitchell 1998:9463337}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000842977" "3" "90" "1" "24147018" "24147018" "subst" "0" "00006" "HMGCL_000021" "g.24147018A>C" "" "{PMID:Mitchell 1998:9463337}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000842978" "1" "90" "1" "24147020" "24147020" "subst" "0" "00006" "HMGCL_000022" "g.24147020C>G" "" "{PMID:Mitchell 1998:9463337}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000842979" "3" "90" "1" "24147023" "24147023" "subst" "8.12163E-6" "00006" "HMGCL_000023" "g.24147023G>A" "" "{PMID:Mitchell 1998:9463337}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000842980" "3" "90" "1" "24129017" "24129018" "del" "0" "00006" "HMGCL_000012" "g.24129017_24129018del" "" "{PMID:Mitchell 1998:9463337}" "" "" "" "Germline" "" "" "0" "" "" "g.23802527_23802528del" "" "pathogenic (recessive)" "" "0000842981" "3" "90" "1" "24129017" "24129018" "del" "0" "00006" "HMGCL_000012" "g.24129017_24129018del" "" "{PMID:Mitchell 1998:9463337}" "" "" "" "Germline" "" "" "0" "" "" "g.23802527_23802528del" "" "pathogenic (recessive)" "" "0000842982" "3" "90" "1" "24147035" "24147035" "subst" "4.8729E-5" "00006" "HMGCL_000024" "g.24147035C>A" "" "{PMID:Pie 1997:9163320}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000842983" "3" "90" "1" "24147035" "24147035" "subst" "4.8729E-5" "00006" "HMGCL_000024" "g.24147035C>A" "" "{PMID:Pie 1997:9163320}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000843026" "21" "90" "1" "24134677" "24134677" "subst" "4.06161E-6" "00006" "HMGCL_000025" "g.24134677T>C" "" "{PMID:Zapater 1998:9784232}" "" "A698G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000843027" "11" "90" "1" "24130978" "24130978" "subst" "0" "00006" "HMGCL_000026" "g.24130978A>G" "" "{PMID:Zapater 1998:9784232}" "" "T788C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000843028" "3" "90" "1" "24130931" "24130931" "subst" "0" "00006" "HMGCL_000027" "g.24130931C>T" "" "{PMID:Muroi 2000:11129331}" "" "G835A" "" "Germline" "" "rs28934894" "0" "" "" "" "" "pathogenic (recessive)" "" "0000843029" "3" "90" "1" "24129009" "24129009" "subst" "0" "00006" "HMGCL_000028" "g.24129009G>A" "" "{PMID:Muroi 2000:11129331}" "" "C922T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000843030" "1" "90" "1" "24140743" "24140743" "subst" "0" "00006" "HMGCL_000029" "g.24140743T>A" "" "{PMID:Muroi 2000:11129331}" "" "A434T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000843031" "2" "90" "1" "24130931" "24130931" "subst" "0" "00006" "HMGCL_000027" "g.24130931C>T" "" "{PMID:Muroi 2000:11129331}" "" "G835A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000843032" "3" "90" "1" "24143966" "24143966" "del" "0" "00006" "HMGCL_000030" "g.24143966del" "" "{PMID:Muroi 2000:11129331}" "" "252+1delG" "" "Germline" "" "" "0" "" "" "g.23817476del" "" "pathogenic (recessive)" "" "0000843033" "3" "90" "1" "24134624" "24134814" "del" "0" "00006" "HMGCL_000031" "g.(24131016_24134624)_(24134814_24137225)del" "" "{PMID:Muroi 2000:11129331}" "" "ex del7" "2.2 kb deletion" "Germline" "" "" "0" "" "" "g,(23804526_23808134)_(23808324_23810735)del" "" "pathogenic (recessive)" "" "0000843055" "3" "90" "1" "24143227" "24143227" "subst" "0" "00006" "HMGCL_000032" "g.24143227G>A" "" "{PMID:Funghini 2001:11461194}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000843056" "3" "90" "1" "24134677" "24134677" "subst" "4.06161E-6" "00006" "HMGCL_000025" "g.24134677T>C" "" "{PMID:Pospisilova 2003:14518825}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000843057" "21" "90" "1" "24134677" "24134677" "subst" "4.06161E-6" "00006" "HMGCL_000025" "g.24134677T>C" "" "{PMID:Pospisilova 2003:14518825}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000843058" "11" "90" "1" "24151879" "24151879" "del" "0" "00006" "HMGCL_000033" "g.24151879del" "" "{PMID:Pospisilova 2003:14518825}" "" "27delG" "" "Germline" "" "" "0" "" "" "g.23825389del" "" "pathogenic (recessive)" "" "0000843059" "3" "90" "1" "24147022" "24147022" "subst" "2.43643E-5" "00006" "HMGCL_000004" "g.24147022C>T" "" "{PMID:Pospisilova 2003:14518825}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000843060" "0" "90" "1" "24134677" "24134677" "subst" "4.06161E-6" "00006" "HMGCL_000025" "g.24134677T>C" "" "{PMID:Roberts 1996:8798725}" "" "" "functional analysis shows <0.01 specific activity" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000843061" "0" "90" "1" "24134678" "24134678" "subst" "0" "00006" "HMGCL_000034" "g.24134678G>C" "" "{PMID:Roberts 1996:8798725}" "" "" "functional analysis shows <0.01 specific activity" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000843062" "0" "90" "1" "24134677" "24134678" "delins" "0" "00006" "HMGCL_000035" "g.24134677_24134678delinsGC" "" "{PMID:Roberts 1996:8798725}" "" "" "functional analysis shows <0.01 specific activity" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000843063" "3" "90" "1" "24134765" "24134765" "subst" "0" "00006" "HMGCL_000036" "g.24134765C>T" "" 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(recessive)" "" "0000843118" "10" "90" "1" "24140683" "24140683" "subst" "4.06124E-6" "00006" "HMGCL_000045" "g.24140683C>T" "" "{PMID:Lin 2009:19036343}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000843119" "3" "90" "1" "24143965" "24143965" "subst" "4.06151E-6" "00006" "HMGCL_000047" "g.24143965C>T" "" "{PMID:Lin 2009:19036343}" "" "IVS3+1G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000843137" "21" "90" "1" "24134814" "24134814" "subst" "0" "00006" "HMGCL_000046" "g.24134814C>T" "" "{PMID:Lin 2009:19036343}" "" "IVS6-1G>A" "Fig.1C show other variant (654A>G)" "Germline" "" "" "0" "" "" "g.23808324C>T" "" "pathogenic (recessive)" "" "0000843138" "0" "30" "1" "24134721" "24134721" "subst" "0.902742" "00006" "HMGCL_000003" "g.24134721T>C" "" "{PMID:Lin 2009:19036343}" "" "" "shown in Fig.1C (not reported)" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000843140" "3" "90" "1" "24147035" "24147035" "subst" "0" "00006" 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"subst" "0" "00006" "HMGCL_000048" "g.24130946C>T" "" "{PMID:Pierron 2010:19932602}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000843155" "3" "90" "1" "24143164" "24144074" "del" "0" "00006" "HMGCL_000049" "g.(24140829_24143164)_(24144074_24146999)del" "" "{PMID:Koksal 2015:25708061}" "" "del ex3-4" "" "Germline" "" "" "0" "" "" "g.(23814339_23816674)_(23817584_23820509)del" "" "pathogenic (recessive)" "" "0000843156" "10" "90" "1" "24151875" "24151875" "subst" "0" "00006" "HMGCL_000050" "g.24151875G>A" "" "{PMID:Aoyama 2015:25872961}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000843157" "21" "90" "1" "24143146" "24147626" "del" "0" "00006" "HMGCL_000051" "g.24143146_24147626del" "" "{PMID:Aoyama 2015:25872961}" "" "NG_013061 g.9326-13806del" "" "Germline" "" "" "0" "" "" "g.23816656_23821136del" "" "pathogenic (recessive)" "" "0000843158" "11" "90" "1" "24143976" "24143976" "subst" "0" "00006" "HMGCL_000052" "g.24143976C>T" "" "{PMID:Aoyama 2015:25872961}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000843159" "10" "90" "1" "24143976" "24143976" "subst" "0" "00006" "HMGCL_000052" "g.24143976C>T" "" "{PMID:Aoyama 2015:25872961}" "" "" "paternal uniparental disomy of chromosome 1" "Uniparental disomy, paternal allele" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000843264" "1" "90" "1" "24147035" "24147035" "subst" "4.8729E-5" "00006" "HMGCL_000024" "g.24147035C>A" "" "{PMID:Cardoso 2004:15308132}" "" "" "unknown variant 2nd chromosome; HMGCL activity 0.08" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843265" "3" "90" "1" "24147035" "24147035" "subst" "4.8729E-5" "00006" "HMGCL_000024" "g.24147035C>A" "" "{PMID:Cardoso 2004:15308132}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000843266" "3" "90" "1" "24147035" "24147035" "subst" "4.8729E-5" "00006" "HMGCL_000024" "g.24147035C>A" "" "{PMID:Cardoso 2004:15308132}" "" "" "" "Germline" "" 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"00006" "HMGCL_000024" "g.24147035C>A" "" "{PMID:Cardoso 2004:15308132}" "" "" "HMGCL activity 0.07 (compound heterozygous)" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000843272" "2" "90" "1" "24137283" "24137284" "del" "0" "00006" "HMGCL_000019" "g.24137283_24137284del" "" "{PMID:Cardoso 2004:15308132}" "" "504_505delCT" "HMGCL activity 0.07 (compound heterozygous)" "Germline" "" "" "0" "" "" "g.23810793_23810794del" "" "pathogenic (recessive)" "" "0000843273" "1" "90" "1" "24147035" "24147035" "subst" "4.8729E-5" "00006" "HMGCL_000024" "g.24147035C>A" "" "{PMID:Cardoso 2004:15308132}" "" "" "HMGCL activity 0.00 (compound heterozygous)" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000843274" "2" "90" "1" "24134765" "24134765" "subst" "0" "00006" "HMGCL_000036" "g.24134765C>T" "" "{PMID:Cardoso 2004:15308132}" "" "" "HMGCL activity 0.00 (compound heterozygous)" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000843275" "3" "90" "1" "24147035" "24147035" "subst" "4.8729E-5" "00006" "HMGCL_000024" "g.24147035C>A" "" "{PMID:Cardoso 2004:15308132}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000843276" "3" "90" "1" "24147035" "24147035" "subst" "4.8729E-5" "00006" "HMGCL_000024" "g.24147035C>A" "" "{PMID:Cardoso 2004:15308132}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000843277" "3" "90" "1" "24147035" "24147035" "subst" "0" "00006" "HMGCL_000069" "g.24147035C>T" "" "{PMID:Casale 1998:9439591}" "" "" "" "Germline" "" "" "0" "" "" "g.23820545C>T" "" "pathogenic (recessive)" "" "0000843278" "3" "90" "1" "24147035" "24147035" "subst" "0" "00006" "HMGCL_000069" "g.24147035C>T" "" "{PMID:Casale 1998:9439591}" "" "" "" "Germline" "" "" "0" "" "" "g.23820545C>T" "" "pathogenic (recessive)" "" "0000843279" "3" "90" "1" "24147035" "24147035" "subst" "0" "00006" "HMGCL_000069" "g.24147035C>T" "" "{PMID:Casale 1998:9439591}" "" "" "" "Germline" "" "" "0" "" "" "g.23820545C>T" "" "pathogenic (recessive)" "" "0000843280" "3" "90" "1" "24147035" "24147035" "subst" "0" "00006" "HMGCL_000069" "g.24147035C>T" "" "{PMID:Casale 1998:9439591}" "" "" "" "Germline" "" "" "0" "" "" "g.23820545C>T" "" "pathogenic (recessive)" "" "0000843281" "0" "10" "1" "24134721" "24134721" "subst" "0.902742" "00006" "HMGCL_000003" "g.24134721T>C" "" "{PMID:Pie 1997:9163320}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000843282" "0" "10" "1" "24134648" "24134648" "subst" "0" "00006" "HMGCL_000053" "g.24134648C>T" "" "{PMID:Pie 1997:9163320}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000843283" "3" "90" "1" "24147035" "24147035" "subst" "4.8729E-5" "00006" "HMGCL_000024" "g.24147035C>A" "" "{PMID:Puisac 2005:15752612}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000843284" "1" "90" "1" "24143966" "24143966" "subst" "0" "00006" "HMGCL_000068" "g.24143966C>T" "" "{PMID:Grunert 2017:28583327}" "" "" "" "Germline" "" "" "0" "" "" "g.23817476C>T" "" "pathogenic (recessive)" "" "0000843285" "3" "90" "1" "24130889" "24130889" "subst" "0" "00006" "HMGCL_000014" "g.24130889C>G" "" "{PMID:Grunert 2017:28583327}" "" "" "" "Germline" "" "" "0" "" "" "g.23804399C>G" "" "pathogenic (recessive)" "" "0000843286" "3" "90" "1" "24130889" "24130889" "subst" "0" "00006" "HMGCL_000014" "g.24130889C>G" "" "{PMID:Grunert 2017:28583327}" "" "" "" "Germline" "" "" "0" "" "" "g.23804399C>G" "" "pathogenic (recessive)" "" "0000843287" "1" "90" "1" "24151879" "24151879" "del" "0" "00006" "HMGCL_000033" "g.24151879del" "" "{PMID:Grunert 2017:28583327}" "" "c.27_27delG" "" "Germline" "" "" "0" "" "" "g.23825389del" "" "pathogenic (recessive)" "" "0000843288" "3" "90" "1" "24134717" "24134717" "del" "0" "00006" "HMGCL_000057" "g.24134717del" "" "{PMID:Grunert 2017:28583327}" "" "c.658_658delG" "" "Germline" "" "" "0" "" "" "g.23808227del" "" "pathogenic (recessive)" "" "0000843289" "3" "90" "1" "24140802" "24140803" "del" "0" "00006" "HMGCL_000041" "g.24140802_24140803del" "" "{PMID:Grunert 2017:28583327}" "" "c.374_375delTC" "" "Germline" "" "" "0" "" "" "g.23814312_23814313del" "" "pathogenic (recessive)" "" "0000843290" "3" "90" "1" "24140802" "24140803" "del" "0" "00006" "HMGCL_000041" "g.24140802_24140803del" "" "{PMID:Grunert 2017:28583327}" "" "c.374_375delTC" "" "Germline" "" "" "0" "" "" "g.23814312_23814313del" "" "pathogenic (recessive)" "" "0000843291" "3" "90" "1" "24130889" "24130889" "subst" "0" "00006" "HMGCL_000014" "g.24130889C>G" "" "{PMID:Grunert 2017:28583327}" "" "" "" "Germline" "" "" "0" "" "" "g.23804399C>G" "" "pathogenic (recessive)" "" "0000843292" "3" "90" "1" "24151875" "24151875" "subst" "0" "00006" "HMGCL_000050" "g.24151875G>A" "" "{PMID:Grunert 2017:28583327}" "" "" "" "Germline" "" "" "0" "" "" "g.23825385G>A" "" "pathogenic (recessive)" "" "0000843293" "3" "90" "1" "24143241" "24143241" "subst" "4.06072E-6" "00006" "HMGCL_000066" "g.24143241A>T" "" "{PMID:Grunert 2017:28583327}" "" "" "" "Germline" "" "" "0" "" "" "g.23816751A>T" "" "pathogenic (recessive)" "" "0000843294" "3" "90" "1" "24130889" "24130889" "subst" "0" "00006" "HMGCL_000014" "g.24130889C>G" "" "{PMID:Koling 2000:10916782}, {PMID:Grunert 2017:28583327}" "" "" "" "Germline" "" "" "0" "" "" "g.23804399C>G" "" "pathogenic (recessive)" "" "0000843295" "3" "90" "1" "24147035" "24147035" "subst" "4.8729E-5" "00006" "HMGCL_000024" "g.24147035C>A" "" "{PMID:Koling 2000:10916782}, {PMID:Grunert 2017:28583327}" "" "" "" "Germline" "" "" "0" "" "" "g.23820545C>A" "" "pathogenic (recessive)" "" "0000843296" "3" "90" "1" "24140684" "24140684" "subst" "2.03062E-5" "00006" "HMGCL_000063" "g.24140684G>A" "" "{PMID:Grunert 2017:28583327}" "" "" "" "Germline" "" "" "0" "" "" "g.23814194G>A" "" "pathogenic (recessive)" "" "0000843297" "3" "90" "1" "24140684" "24140684" "subst" "2.03062E-5" "00006" "HMGCL_000063" "g.24140684G>A" "" "{PMID:Grunert 2017:28583327}" "" "" "" "Germline" "" "" "0" "" "" "g.23814194G>A" "" "pathogenic (recessive)" "" "0000843298" "3" "90" "1" "24151875" "24151875" "subst" "0" "00006" "HMGCL_000050" "g.24151875G>A" "" "{PMID:Grunert 2017:28583327}" "" "" "" "Germline" "" "" "0" "" "" "g.23825385G>A" "" "pathogenic (recessive)" "" "0000843299" "3" "90" "1" "24151875" "24151875" "subst" "0" "00006" "HMGCL_000050" "g.24151875G>A" "" "{PMID:Grunert 2017:28583327}" "" "" "" "Germline" "" "" "0" "" "" "g.23825385G>A" "" "pathogenic (recessive)" "" "0000843300" "3" "90" "1" "24130889" "24130889" "subst" "0" "00006" "HMGCL_000014" "g.24130889C>G" "" "{PMID:Grunert 2017:28583327}" "" "" "" "Germline" "" "" "0" "" "" "g.23804399C>G" "" "pathogenic (recessive)" "" "0000843302" "2" "90" "1" "0" "0" "" "0" "00006" "NPHS2_000000" "g.?" "" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "r.61-144del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000843303" "2" "90" "1" "24143198" "24143207" "dup" "0" "00006" "HMGCL_000065" "g.24143198_24143207dup" "" "{PMID:Alfadhel 2022:35646072}, {DOI:Alfadhel 2022:10.3389/fgene.2022.880464}" "" "" "" "Germline" "" "" "0" "" "" "g.23816708_23816717dup" "" "pathogenic (recessive)" "" "0000843304" "3" "90" "1" "24143190" "24143190" "subst" "0" "00006" "HMGCL_000054" "g.24143190G>A" "" "{PMID:Grunert 2017:28583327}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000928148" "0" "90" "1" "24147035" "24147035" "subst" "4.8729E-5" "02329" "HMGCL_000024" "g.24147035C>A" "" "" "" "HMGCL(NM_000191.3):c.109G>T (p.E37*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000973829" "0" "50" "1" "24140831" "24140831" "subst" "2.84426E-5" "01804" "HMGCL_000008" "g.24140831G>T" "" "" "" "HMGCL(NM_000191.2):c.349-3C>A, HMGCL(NM_000191.3):c.349-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000985840" "2" "70" "1" "24143985" "24143985" "subst" "2.43659E-5" "04221" "HMGCL_000070" "g.24143985G>A" "" "" "" "" "Variant classified as per ACMG guidelines (Richards et al 2015) and to the recently developed ACMG scoring system (Tavtigian et al 2020). Identified as a compound heterozygous with nonsense variant NM_054012.4:c.121C>T, p.Arg41*" "Germline" "yes" "rs754253328" "0" "" "" "g.23817495G>A" "{CV:2083770}" "likely pathogenic (recessive)" "ACMG" "0000985841" "1" "90" "1" "24147023" "24147023" "subst" "8.12163E-6" "04221" "HMGCL_000023" "g.24147023G>A" "" "" "" "" "Mitchel 1998:9463337, Pié 2007:17692550, Menao 2009:19177531" "Germline" "yes" "rs770225915" "0" "" "" "g.23820533G>A" "{CV:553933}" "pathogenic (recessive)" "ACMG" "0000987547" "3" "90" "1" "24137283" "24137284" "del" "0" "04221" "HMGCL_000019" "g.24137283_24137284del" "" "" "" "" "Puisac 2013:23465862, Meano 2009:19177531, Vargas 2008:18080783" "Germline" "yes" "rs764264834" "0" "" "" "g.23810793_23810794del" "{CV:521753}" "pathogenic (recessive)" "ACMG" "0000987565" "3" "70" "1" "24147032" "24147032" "subst" "0" "04221" "HMGCL_000071" "g.24147032C>A" "" "" "" "" "ClinVar reports another patient with Deficiency of hydroxymethylglutaryl-CoA lyase who presents the same variant. Molecular analysis in parents could not be performed (father died). Acoording to Uniprot (P35914) this variant is located at the Pyruvate carboxyltransferase domain (33-300aa). This domain is found in pyruvate binding enzymes and acetyl-CoA dependent enzymes, suggesting that this domain can be associated with different enzymatic activities." "Germline" "yes" "" "0" "" "" "g.23820542C>A" "{CV:2075645}" "likely pathogenic (!)" "ACMG" "0000987572" "3" "90" "1" "24147035" "24147035" "subst" "4.8729E-5" "04221" "HMGCL_000024" "g.24147035C>A" "" "{PMID:Grünert 2017:28583327} {PMID:Muñoz-Bonet 2017:28257639} {PMID:Puisac 2013:23465862}" "" "" "" "Germline" "yes" "rs763494292" "" "" "" "g.23820545C>A" "{CV:195033}" "pathogenic (recessive)" "ACMG" "0000987783" "1" "90" "1" "24143988" "24143988" "del" "0" "04221" "HMGCL_000072" "g.24143988del" "" "" "" "" "Other heterozygous pathogenic variant in MSH6 gene was also identified in WES analysis as a secondary finding (NM_000179.3:c.2150_2153del)" "Germline" "yes" "rs1638632303" "0" "" "" "g.23817498del" "{CV:1685878}" "pathogenic (recessive)" "ACMG" "0000987784" "2" "90" "1" "24151875" "24151875" "subst" "0" "04221" "HMGCL_000050" "g.24151875G>A" "" "" "" "" "Grünert 2017:28583327, Aoyama 2015:25872961, Puisac 2013:23465862" "Germline" "yes" "rs1212444447" "0" "" "" "g.23825385G>A" "{CV:521752}" "pathogenic (recessive)" "ACMG" "0001013299" "0" "90" "1" "24124208" "24124208" "subst" "6.90333E-5" "02327" "GALE_000019" "g.24124208G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001031897" "0" "50" "1" "24123428" "24123428" "subst" "3.69719E-5" "01804" "GALE_000020" "g.24123428G>A" "" "" "" "GALE(NM_001008216.2):c.647C>T (p.(Ala216Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes HMGCL ## Count = 203 "{{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}}" "0000281380" "00009472" "10" "654" "0" "654" "0" "c.654A>G" "r.(?)" "p.(Leu218=)" "" "0000281381" "00009472" "50" "805" "0" "805" "0" "c.805G>A" "r.(?)" "p.(Ala269Thr)" "" "0000320646" "00009472" "50" "950" "0" "950" "0" "c.950A>G" "r.(?)" "p.(Lys317Arg)" "" "0000506614" "00009472" "90" "876" "1" "876" "1" "c.876+1G>C" "r.spl?" "p.?" "" "0000506615" "00009472" "10" "654" "0" "654" "0" "c.654A>G" "r.(?)" "p.(Leu218=)" "" "0000506616" "00009472" "50" "344" "0" "344" "0" "c.344C>T" "r.(?)" "p.(Ala115Val)" "" "0000506617" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000506618" "00009472" "30" "88" "0" "88" "0" "c.88C>T" "r.(?)" "p.(Pro30Ser)" "" "0000605579" "00009472" "50" "650" "0" "650" "0" "c.650T>G" "r.(?)" "p.(Met217Arg)" "" "0000605580" "00009472" "50" "349" "-3" "349" "-3" "c.349-3C>A" "r.spl?" "p.?" "" "0000620588" "00009472" "30" "163" "0" "163" "0" "c.163G>C" "r.(?)" "p.(Val55Leu)" "" "0000653975" "00009472" "30" "751" "-3" "751" "-3" "c.751-3T>C" "r.spl?" "p.?" "" "0000717357" "00009472" "30" "6284" "0" "6284" "0" "c.*5306C>T" "r.(=)" "p.(=)" "" "0000799238" "00009472" "50" "4452" "0" "4452" "0" "c.*3474G>C" "r.(=)" "p.(=)" "" "0000799239" "00009472" "30" "663" "0" "663" "0" "c.663C>T" "r.(?)" "p.(Val221=)" "" "0000842682" "00009472" "90" "206" "0" "207" "0" "c.206_207del" "r.206_207del" "p.Ser69Cysfs*11" "" "0000842685" "00009472" "90" "206" "0" "207" "0" "c.206_207del" "r.(?)" "p.(Ser69CysfsTer11)" "" "0000842686" "00009472" "90" "206" "0" "207" "0" "c.206_207del" "r.(?)" "p.(Ser69CysfsTer11)" "" "0000842687" "00009472" "90" "206" "0" "207" "0" "c.206_207del" "r.(?)" "p.(Ser69CysfsTer11)" "" "0000842688" "00009472" "90" "206" "0" "207" "0" "c.206_207del" "r.(?)" "p.(Ser69CysfsTer11)" "" "0000842689" "00009472" "90" "206" "0" "207" "0" "c.206_207del" "r.(?)" "p.(Ser69CysfsTer11)" "" "0000842690" "00009472" "90" "914" "0" "915" "0" "c.914_915del" "r.(?)" "p.(Phe305TyrfsTer10)" "" "0000842691" "00009472" "90" "914" "0" "915" "0" "c.914_915del" "r.(?)" "p.(Phe305TyrfsTer10)" "" "0000842692" "00009472" "90" "599" "0" "599" "0" "c.599T>A" "r.(?)" "p.(Ile200Asn)" "" "0000842693" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842694" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842695" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842696" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842697" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842698" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842699" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842700" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842701" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842702" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842703" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842704" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842705" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842706" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842707" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842708" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842709" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842710" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842711" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842712" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842713" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842714" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842715" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842716" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842717" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842718" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842719" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842720" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842721" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842722" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842723" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842724" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842725" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842726" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842727" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842728" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842729" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842730" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842731" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842732" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842733" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842734" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842735" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842736" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842737" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842738" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842739" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842740" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842962" "00009472" "90" "137" "0" "137" "0" "c.137dup" "r.(?)" "p.(Asn46Lysfs*2)" "" "0000842963" "00009472" "90" "145" "-1" "561" "1" "c.(144+1_145-1)_(561+1_562-1)del" "r.?" "p.?" "2i_6i" "0000842964" "00009472" "90" "61" "-1" "561" "1" "c.(?_61-1)_(561+1_562-1)del" "r.?" "p.?" "_1i_6i" "0000842965" "00009472" "90" "876" "1" "876" "1" "c.876+1G>C" "r.[751_876del,876_877ins[c;876+1_876+78]]" "p.[Met231_Thr292del,Gly393Leufs*18]" "8i" "0000842966" "00009472" "90" "505" "0" "506" "0" "c.505_506del" "r.[505_506del,498_561del,349_561del]" "p.[Ser169Leufs*8,Tyr167Serfs*27,Ala118_Val188del]" "6" "0000842967" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842968" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842969" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842970" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842971" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842972" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842973" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842974" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842975" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000842976" "00009472" "90" "125" "0" "125" "0" "c.125A>G" "r.(?)" "p.(Asp42Gly)" "" "0000842977" "00009472" "90" "126" "0" "126" "0" "c.126T>G" "r.(?)" "p.(Asp42Glu)" "" "0000842978" "00009472" "90" "124" "0" "124" "0" "c.124G>C" "r.(?)" "p.(Asp42His)" "" "0000842979" "00009472" "90" "121" "0" "121" "0" "c.121C>T" "r.(?)" "p.(Arg41*)" "" "0000842980" "00009472" "90" "914" "0" "915" "0" "c.914_915del" "r.(?)" "p.(Phe305Tyrfs*10)" "" "0000842981" "00009472" "90" "914" "0" "915" "0" "c.914_915del" "r.(?)" "p.(Arg41Gln)" "" "0000842982" "00009472" "90" "109" "0" "109" "0" "c.109G>T" "r.[109c>u,61_144del]" "p.[Glu37*,Val21_Lys48del]" "" "0000842983" "00009472" "90" "109" "0" "109" "0" "c.109G>T" "r.[109c>u,61_144del]" "p.[Glu37*,Val21_Lys48del]" "" "0000843026" "00009472" "90" "698" "0" "698" "0" "c.698A>G" "r.698a>g" "p.His233Arg" "" "0000843027" "00009472" "90" "788" "0" "788" "0" "c.788T>C" "r.788u>c" "p.Leu263Pro" "" "0000843028" "00009472" "90" "835" "0" "835" "0" "c.835G>A" "r.835g>a" "p.Glu279Lys" "" "0000843029" "00009472" "90" "922" "0" "922" "0" "c.922C>T" "r.922c>u" "p.Gln308*" "" "0000843030" "00009472" "90" "434" "0" "434" "0" "c.434A>T" "r.433_561del" "p.Gln145_Glu187del" "" "0000843031" "00009472" "90" "835" "0" "835" "0" "c.835G>A" "r.835g>a" "p.Glu279Lys" "" "0000843032" "00009472" "90" "252" "1" "252" "1" "c.252+1del" "r.145_252del" "p.Asn49_Gln84del" "3i" "0000843033" "00009472" "90" "562" "-1" "750" "1" "c.(561+1_562-1)_(750+1_751-1)del" "r.562_750del" "p.Val188_Gln250del" "6i_7i" "0000843055" "00009472" "90" "286" "0" "286" "0" "c.286C>T" "r.286c>u" "p.Gln96*" "" "0000843056" "00009472" "90" "698" "0" "698" "0" "c.698A>G" "r.(?)" "p.(His233Arg)" "" "0000843057" "00009472" "90" "698" "0" "698" "0" "c.698A>G" "r.(?)" "p.(His233Arg)" "" "0000843058" "00009472" "90" "27" "0" "27" "0" "c.27del" "r.(?)" "p.(Arg10Glyfs*24)" "" "0000843059" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000843060" "00009472" "90" "698" "0" "698" "0" "c.698A>G" "-" "p.His233Arg" "" "0000843061" "00009472" "90" "697" "0" "697" "0" "c.697C>G" "-" "p.His233Asp" "" "0000843062" "00009472" "90" "697" "0" "698" "0" "c.697_698delinsGC" "-" "p.His233Ala" "" "0000843063" "00009472" "90" "610" "0" "610" "0" "c.610G>A" "r.(?)" "p.(Asp204Asn)" "" "0000843064" "00009472" "90" "602" "0" "602" "0" "c.602C>A" "r.(?)" "p.(Ser201Tyr)" "" "0000843065" "00009472" "90" "225" "0" "225" "0" "c.225C>G" "r.(?)" "p.(Ser75Arg)" "" "0000843066" "00009472" "90" "608" "0" "608" "0" "c.608G>A" "r.(?)" "p.(Gly203Glu)" "" "0000843067" "00009472" "90" "914" "0" "915" "0" "c.914_915del" "r.(?)" "p.(Phe305Tyrfs*10)" "" "0000843068" "00009472" "90" "561" "1" "561" "1" "c.561+1G>A" "r.spl" "p.?" "" "0000843069" "00009472" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Gln)" "" "0000843070" "00009472" "90" "374" "0" "375" "0" "c.374_375del" "r.(?)" "p.(Val125Aspfs*26)" "" "0000843072" "00009472" "90" "796" "0" "796" "0" "c.796T>C" "r.(?)" "p.(Cys266Arg)" "" "0000843109" "00009472" "90" "914" "0" "915" "0" "c.914_915del" "r.(?)" "p.(Phe305Tyrfs*10)" "" "0000843110" "00009472" "90" "144" "0" "144" "0" "c.144G>T" "r.(?)" "p.(Lys48Asn)" "" "0000843111" "00009472" "90" "505" "0" "506" "0" "c.505_506del" "r.(?)" "p.(Ser169Leufs*8)" "" "0000843112" "00009472" "90" "109" "0" "109" "0" "c.109G>T" "r.(?)" "p.(Glu37*)" "" "0000843113" "00009472" "90" "505" "0" "506" "0" "c.505_506del" "r.(?)" "p.(Ser169Leufs*8)" "" "0000843114" "00009472" "90" "124" "0" "124" "0" "c.124G>A" "r.(?)" "p.(Asp42Asn)" "" "0000843115" "00009472" "90" "505" "0" "506" "0" "c.505_506del" "r.(?)" "p.(Ser169Leufs*8)" "" "0000843116" "00009472" "90" "109" "0" "109" "0" "c.109G>T" "r.(?)" "p.(Glu37*)" "" "0000843117" "00009472" "90" "109" "0" "109" "0" "c.109G>T" "r.(?)" "p.(Glu37*)" "" "0000843118" "00009472" "90" "494" "0" "494" "0" "c.494G>A" "r.(?)" "p.(Arg165Gln)" "" "0000843119" "00009472" "90" "252" "1" "252" "1" "c.252+1G>A" "r.145_252del" "p.Asn49_Gln84del" "3i" "0000843137" "00009472" "90" "562" "-1" "562" "-1" "c.562-1G>A" "r.(562_750del)" "p.(Val188_Gln250del)" "6i" "0000843138" "00009472" "30" "654" "0" "654" "0" "c.654A>G" "r.(=)" "p.(=)" "" "0000843140" "00009472" "90" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Glu37Lys)" "2" "0000843141" "00009472" "90" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Glu37Lys)" "2" "0000843142" "00009472" "90" "425" "0" "425" "0" "c.425C>T" "r.(?)" "p.(Ser142Phe)" "5" "0000843143" "00009472" "90" "521" "0" "521" "0" "c.521G>A" "r.(?)" "p.(Cys174Tyr)" "6" "0000843144" "00009472" "90" "575" "0" "575" "0" "c.575T>C" "r.(?)" "p.(Phe192Ser)" "7" "0000843145" "00009472" "90" "598" "0" "598" "0" "c.598A>T" "r.(?)" "p.(Ile200Phe)" "7" "0000843146" "00009472" "90" "242" "0" "242" "0" "c.242G>A" "r.(?)" "p.(Trp81Ter)" "3" "0000843147" "00009472" "90" "853" "0" "853" "0" "c.853del" "r.853del" "p.Leu285Ter" "8" "0000843148" "00009472" "90" "750" "1" "750" "1" "c.750+1G>A" "r.(?)" "p.?" "7i" "0000843149" "00009472" "90" "750" "1" "750" "1" "c.750+1G>A" "r.(?)" "p.?" "7i" "0000843150" "00009472" "90" "559" "0" "559" "0" "c.559G>T" "r.(?)" "p.(Glu187Ter)" "6" "0000843151" "00009472" "10" "252" "34" "252" "34" "c.252+34=" "r.(?)" "p.?" "3i" "0000843152" "00009472" "90" "497" "4" "497" "4" "c.497+4A>G" "r.[349_497del,349_561del]" "p.[Ala118Arfs*10,Val117_Glu187del]" "5i" "0000843153" "00009472" "90" "494" "0" "494" "0" "c.494G>A" "r.(?)" "p.(Arg165Gln)" "" "0000843154" "00009472" "90" "820" "0" "820" "0" "c.820G>A" "r.(?)" "p.(Gly274Arg)" "" "0000843155" "00009472" "90" "145" "-1" "348" "1" "c.(144+1_145-1)_(348+1_349-1)del" "r.?" "p.?" "2i_4i" "0000843156" "00009472" "90" "31" "0" "31" "0" "c.31C>T" "r.(?)" "p.(Arg11*)" "" "0000843157" "00009472" "90" "61" "-540" "348" "22" "c.61-540_348+22del" "r.?" "p.?" "1i_4i" "0000843158" "00009472" "90" "242" "0" "242" "0" "c.242G>A" "r.(?)" "p.(Trp81*)" "" "0000843159" "00009472" "90" "242" "0" "242" "0" "c.242G>A" "r.(?)" "p.(Trp81*)" "" "0000843264" "00009472" "90" "109" "0" "109" "0" "c.109G>T" "r.(?)" "p.(Glu37*)" "" "0000843265" "00009472" "90" "109" "0" "109" "0" "c.109G>T" "r.(?)" "p.(Glu37*)" "" "0000843266" "00009472" "90" "109" "0" "109" "0" "c.109G>T" "r.(?)" "p.(Glu37*)" "" "0000843267" "00009472" "90" "109" "0" "109" "0" "c.109G>T" "r.(?)" "p.(Glu37*)" "" "0000843268" "00009472" "90" "109" "0" "109" "0" "c.109G>T" "r.(?)" "p.(Glu37*)" "" "0000843269" "00009472" "90" "109" "0" "109" "0" "c.109G>T" "r.(?)" "p.(Glu37*)" "" "0000843270" "00009472" "90" "109" "0" "109" "0" "c.109G>T" "r.(?)" "p.(Glu37*)" "" "0000843271" "00009472" "90" "109" "0" "109" "0" "c.109G>T" "r.(?)" "p.(Glu37*)" "" "0000843272" "00009472" "90" "505" "0" "506" "0" "c.505_506del" "r.(?)" "p.(Ser169Leufs*8)" "" "0000843273" "00009472" "90" "109" "0" "109" "0" "c.109G>T" "r.(?)" "p.(Glu37*)" "" "0000843274" "00009472" "90" "610" "0" "610" "0" "c.610G>A" "r.(?)" "p.(Asp204Asn)" "" "0000843275" "00009472" "90" "109" "0" "109" "0" "c.109G>T" "r.(?)" "p.(Glu37*)" "" "0000843276" "00009472" "90" "109" "0" "109" "0" "c.109G>T" "r.(?)" "p.(Glu37*)" "" "0000843277" "00009472" "90" "109" "0" "109" "0" "c.109G>A" "r.[109c>u,61_144del,61_252del]" "p.[Glu37*,Val21_Lys48del,Val21_Gln84del]" "" "0000843278" "00009472" "90" "109" "0" "109" "0" "c.109G>A" "r.[109c>u,61_144del,61_252del]" "p.[Glu37*,Val21_Lys48del,Val21_Gln84del]" "" "0000843279" "00009472" "90" "109" "0" "109" "0" "c.109G>A" "r.[109c>u,61_144del,61_252del]" "p.[Glu37*,Val21_Lys48del,Val21_Gln84del]" "" "0000843280" "00009472" "90" "109" "0" "109" "0" "c.109G>A" "r.[109c>u,61_144del,61_252del]" "p.[Glu37*,Val21_Lys48del,Val21_Gln84del]" "" "0000843281" "00009472" "10" "654" "0" "654" "0" "c.654A>G" "r.(=)" "p.(=)" "" "0000843282" "00009472" "10" "727" "0" "727" "0" "c.727G>A" "r.(?)" "p.(Ala243Thr)" "" "0000843283" "00009472" "90" "109" "0" "109" "0" "c.109G>T" "r.[109c>u,61_144del]" "p.[Glu37*,Val21_Lys48del]" "" "0000843284" "00009472" "90" "252" "0" "252" "0" "c.252G>A" "r.145_252del" "p.Asn49_Gln84del" "" "0000843285" "00009472" "90" "876" "1" "876" "1" "c.876+1G>C" "r.spl" "p.?" "" "0000843286" "00009472" "90" "876" "1" "876" "1" "c.876+1G>C" "r.spl" "p.?" "" "0000843287" "00009472" "90" "27" "0" "27" "0" "c.27del" "r.(?)" "p.(Arg10GlyfsTer24)" "" "0000843288" "00009472" "90" "658" "0" "658" "0" "c.658del" "r.(?)" "p.(Ala220LeufsTer27)" "" "0000843289" "00009472" "90" "374" "0" "375" "0" "c.374_375del" "r.(?)" "p.(Val125AspfsTer26)" "" "0000843290" "00009472" "90" "374" "0" "375" "0" "c.374_375del" "r.(?)" "p.(Val125AspfsTer26)" "" "0000843291" "00009472" "90" "876" "1" "876" "1" "c.876+1G>C" "r.spl" "p.?" "" "0000843292" "00009472" "90" "31" "0" "31" "0" "c.31C>T" "r.(?)" "p.(Arg11Ter)" "" "0000843293" "00009472" "90" "272" "0" "272" "0" "c.272T>A" "r.(?)" "p.(Val91Asp)" "" "0000843294" "00009472" "90" "876" "1" "876" "1" "c.876+1G>C" "r.spl" "p.?" "" "0000843295" "00009472" "90" "109" "0" "109" "0" "c.109G>T" "r.(?)" "p.(Glu37Ter)" "" "0000843296" "00009472" "90" "493" "0" "493" "0" "c.493C>T" "r.(?)" "p.(Arg165Trp)" "" "0000843297" "00009472" "90" "493" "0" "493" "0" "c.493C>T" "r.(?)" "p.(Arg165Trp)" "" "0000843298" "00009472" "90" "31" "0" "31" "0" "c.31C>T" "r.(?)" "p.(Arg11Ter)" "" "0000843299" "00009472" "90" "31" "0" "31" "0" "c.31C>T" "r.(?)" "p.(Arg11Ter)" "" "0000843300" "00009472" "90" "876" "1" "876" "1" "c.876+1G>C" "r.spl" "p.?" "" "0000843302" "00009472" "90" "0" "0" "0" "0" "c.?" "r.61_144del" "p.Val21_Lys48del" "" "0000843303" "00009472" "90" "308" "0" "317" "0" "c.308_317dup" "r.(?)" "p.(Thr107ProfsTer48)" "" "0000843304" "00009472" "90" "323" "0" "323" "0" "c.323C>T" "r.(?)" "p.(Pro108Leu)" "" "0000928148" "00009472" "90" "109" "0" "109" "0" "c.109G>T" "r.(?)" "p.(Glu37*)" "" "0000973829" "00009472" "50" "349" "-3" "349" "-3" "c.349-3C>A" "r.spl?" "p.?" "" "0000985840" "00009472" "70" "233" "0" "233" "0" "c.233C>T" "r.(?)" "p.(Ser78Phe)" "3" "0000985841" "00009472" "90" "121" "0" "121" "0" "c.121C>T" "r.(?)" "p.(Arg41*)" "2" "0000987547" "00009472" "90" "505" "0" "506" "0" "c.505_506del" "r.(?)" "p.(Ser169Leufs*8)" "6" "0000987565" "00009472" "70" "112" "0" "112" "0" "c.112G>T" "r.(?)" "p.(Val38Phe)" "2" "0000987572" "00009472" "90" "109" "0" "109" "0" "c.109G>T" "r.(?)" "p.(Glu37*)" "2" "0000987783" "00009472" "90" "230" "0" "230" "0" "c.230del" "r.(?)" "p.(Val77Glyfs*16)" "3" "0000987784" "00009472" "90" "31" "0" "31" "0" "c.31C>T" "r.(?)" "p.(Arg11*)" "1" "0001013299" "00009472" "90" "5723" "0" "5723" "0" "c.*4745C>T" "r.(=)" "p.(=)" "" "0001031897" "00009472" "50" "6503" "0" "6503" "0" "c.*5525C>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 180 "{{screeningid}}" "{{variantid}}" "0000406360" "0000842682" "0000406362" "0000842685" "0000406363" "0000842686" "0000406364" "0000842687" "0000406365" "0000842688" "0000406366" "0000842689" "0000406367" "0000842690" "0000406368" "0000842691" "0000406369" "0000842692" "0000406370" "0000842693" "0000406371" "0000842694" "0000406372" "0000842695" "0000406373" "0000842696" "0000406374" "0000842697" "0000406375" "0000842698" "0000406376" "0000842699" "0000406377" "0000842700" "0000406378" "0000842701" "0000406379" "0000842702" "0000406380" "0000842703" "0000406381" "0000842704" "0000406382" "0000842705" "0000406383" "0000842706" "0000406384" "0000842707" "0000406385" "0000842708" "0000406386" "0000842709" "0000406387" "0000842710" "0000406388" "0000842711" "0000406389" "0000842712" "0000406390" "0000842713" "0000406391" "0000842714" "0000406392" "0000842715" "0000406393" "0000842716" "0000406394" "0000842717" "0000406395" "0000842718" "0000406396" "0000842719" "0000406397" "0000842720" "0000406398" "0000842721" "0000406399" "0000842722" "0000406400" "0000842723" "0000406401" "0000842724" "0000406402" "0000842725" "0000406403" "0000842726" "0000406404" "0000842727" "0000406405" "0000842728" "0000406406" "0000842729" "0000406407" "0000842730" "0000406408" "0000842731" "0000406409" "0000842732" "0000406410" "0000842733" "0000406411" "0000842734" "0000406412" "0000842735" "0000406413" "0000842736" "0000406414" "0000842737" "0000406415" "0000842738" "0000406416" "0000842739" "0000406417" "0000842740" "0000406604" "0000842962" "0000406605" "0000842963" "0000406606" "0000842964" "0000406607" "0000842965" "0000406608" "0000842966" "0000406609" "0000842967" "0000406611" "0000842969" "0000406612" "0000842970" "0000406613" "0000842971" "0000406614" "0000842972" "0000406615" "0000842973" "0000406616" "0000842974" "0000406617" "0000842975" "0000406618" "0000842976" "0000406619" "0000842977" "0000406620" "0000842978" "0000406621" "0000842979" "0000406622" "0000842980" "0000406623" "0000842981" "0000406624" "0000842982" "0000406624" "0000843281" "0000406624" "0000843282" "0000406625" "0000842983" "0000406668" "0000843026" "0000406668" "0000843027" "0000406669" "0000843028" "0000406670" "0000843029" "0000406671" "0000843030" "0000406671" "0000843031" "0000406672" "0000843032" "0000406673" "0000843033" "0000406686" "0000843055" "0000406687" "0000843056" "0000406688" "0000843057" "0000406688" "0000843058" "0000406689" "0000843059" "0000406690" "0000843063" "0000406691" "0000843064" "0000406692" "0000843065" "0000406693" "0000843066" "0000406694" "0000843067" "0000406695" "0000843068" "0000406697" "0000843069" "0000406698" "0000843070" "0000406698" "0000843072" "0000406729" "0000843109" "0000406730" "0000843110" "0000406731" "0000843111" "0000406731" "0000843112" "0000406732" "0000843113" "0000406732" "0000843114" "0000406733" "0000843115" "0000406733" "0000843116" "0000406734" "0000843117" "0000406735" "0000843118" "0000406735" "0000843137" "0000406735" "0000843138" "0000406736" "0000843119" "0000406753" "0000843140" "0000406754" "0000843141" "0000406755" "0000843142" "0000406755" "0000843150" "0000406756" "0000843143" "0000406756" "0000843151" "0000406757" "0000843144" "0000406758" "0000843145" "0000406759" "0000843146" "0000406760" "0000843147" "0000406760" "0000843152" "0000406761" "0000843148" "0000406762" "0000843149" "0000406763" "0000843153" "0000406763" "0000843154" "0000406764" "0000843155" "0000406765" "0000843156" "0000406765" "0000843157" "0000406766" "0000843158" "0000406766" "0000843159" "0000406860" "0000843264" "0000406861" "0000843265" "0000406862" "0000843266" "0000406863" "0000843267" "0000406864" "0000843268" "0000406865" "0000843269" "0000406866" "0000843270" "0000406867" "0000843271" "0000406867" "0000843272" "0000406868" "0000843273" "0000406868" "0000843274" "0000406869" "0000843275" "0000406870" "0000843276" "0000406871" "0000843277" "0000406872" "0000843278" "0000406873" "0000843279" "0000406874" "0000843280" "0000406875" "0000843283" "0000406876" "0000843284" "0000406876" "0000843302" "0000406877" "0000843285" "0000406878" "0000843286" "0000406879" "0000843287" "0000406879" "0000843303" "0000406880" "0000843288" "0000406881" "0000843289" "0000406882" "0000843290" "0000406883" "0000843291" "0000406884" "0000843292" "0000406885" "0000843293" "0000406886" "0000843294" "0000406887" "0000843295" "0000406888" "0000843296" "0000406889" "0000843297" "0000406890" "0000843298" "0000406891" "0000843299" "0000406892" "0000843300" "0000406893" "0000843304" "0000451923" "0000985840" "0000451923" "0000985841" "0000453045" "0000987547" "0000453056" "0000987565" "0000453061" "0000987572" "0000453241" "0000987783" "0000453241" "0000987784"