### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ALDH3A2) # 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}}" "ALDH3A2" "aldehyde dehydrogenase 3 family, member A2" "17" "p11.2" "unknown" "NG_007095.2" "UD_132084511813" "" "http://www.LOVD.nl/ALDH3A2" "" "1" "403" "224" "609523" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/ALDH3A2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-05-09 14:57:44" "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}}" "00002354" "ALDH3A2" "transcript variant 2" "001" "NM_000382.2" "" "NP_000373.1" "" "" "" "-221" "3481" "1458" "19552064" "19580908" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00877" "3M2" "3M syndrome, type 2 (3M2)" "AR" "612921" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01003" "SLS" "Sjogren-Larsson syndrome (SLS)" "AR" "270200" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ALDH3A2" "00139" "ALDH3A2" "01003" ## Individuals ## Do not remove or alter this header ## ## Count = 188 "{{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}}" "00064676" "" "" "" "1" "" "00006" "{PMID:De Laurenzi 1996:8528251}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Japan" "" "0" "" "" "" "Pat1" "00074600" "" "" "" "1" "" "01596" "{PMID:Davis 2013:23034980}, {DOI:Davis 2013:10.1177/0883073812460581}" "" "F" "no" "Honduras" "" "0" "" "ankle tenotomies, skin moisturizing creams" "" "" "00079126" "" "" "" "1" "" "01596" "{PMID:Davis 2013:23034980}, {DOI:Davis 2013:10.1177/0883073812460581}" "" "M" "yes" "Honduras" "" "0" "" "several anticonvulsants" "" "" "00079361" "" "" "" "1" "" "01596" "{PMID:Sarret 2012:21872273}; {DOI:Sarret 2012:10.1016/j.jns.2011.08.006}" "" "F" "no" "France" "" "0" "" "" "" "" "00079569" "" "" "" "1" "" "01596" "{PMID:Sarret 2012:21872273}; {DOI:Sarret 2012:10.1016/j.jns.2011.08.006}" "" "F" "no" "France" "" "0" "" "" "" "" "00079570" "" "" "" "1" "" "01596" "{PMID:Sarret 2012:21872273}; {DOI:Darret 2012:10.1016/j.jns.2011.08.006}" "" "F" "no" "France" "" "0" "" "" "" "" "00079633" "" "" "" "1" "" "01596" "{PMID:Sarret 2012:21872273}; {DOI:Sarret 2012:10.1016/j.jns.2011.08.006}" "" "F" "yes" "Algeria" "" "0" "" "" "" "" "00079634" "" "" "" "1" "" "01596" "{PMID:Sarret 2012:21872273}; {DOI:Sarret 2012:10.1016/j.jns.2011.08.006}" "" "M" "yes" "Tunisia" "" "0" "" "" "" "" "00079874" "" "" "" "1" "" "01596" "{PMID:Willemsen 2001:11408337}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00079916" "" "" "" "1" "" "01596" "{PMID:Willemsen 2001:11408337}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00079917" "" "" "" "1" "" "01596" "{PMID:Willemsen 2001:11408337}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00079918" "" "" "" "1" "" "01596" "{PMID:Willemsen 2001:11408337}" "" "F" "yes" "Netherlands" "" "0" "" "" "" "" "00079919" "" "" "" "1" "" "01596" "{PMID:Willemsen 2001:11408337}" "" "F" "no" "Netherlands" "" "0" "" "" "" "" "00079920" "" "" "" "1" "" "01596" "{PMID:Willemsen 2001:11408337}" "" "F" "no" "Netherlands" "" "0" "" "" "" "" "00080727" "" "" "" "1" "" "01596" "{PMID:Willemsen 2001:11408337}" "" "F" "no" "Turkey" "" "0" "" "" "" "" "00080754" "" "" "" "1" "" "01596" "{PMID:Willemsen 2001:11408337}" "" "M" "yes" "Turkey" "" "0" "" "" "" "" "00080755" "" "" "" "1" "" "01596" "{PMID:Willemsen 2001:11408337}" "" "F" "yes" "Turkey" "" "0" "" "" "" "" "00080756" "" "" "" "1" "" "01596" "{PMID:Willemsen 2001:11408337}" "" "F" "yes" "Turkey" "" "0" "" "" "" "" "00080757" "" "" "" "1" "" "01596" "{PMID:Willemsen 2001:11408337}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00080758" "" "" "" "1" "" "01596" "{PMID:Willemsen 2001:11408337}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00081222" "" "" "" "1" "" "01596" "{PMID:Willemsen 2001:11408337}" "" "F" "no" "Netherlands" "" "0" "" "" "" "" "00081223" "" "" "" "1" "" "01596" "{PMID:Willemsen 2001:11408337}" "" "F" "no" "Netherlands" "" "0" "" "" "" "" "00081224" "" "" "" "1" "" "01596" "{PMID:Willemsen 2001:11408337}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00081225" "" "" "" "1" "" "01596" "{PMID:Willemsen 2001:11408337}" "" "F" "no" "Netherlands" "" "0" "" "" "" "" "00081226" "" "" "" "1" "" "01596" "{PMID:Willemsen 2001:11408337}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00081227" "" "" "" "1" "" "01596" "{PMID:Willemsen 2001:11408337}" "" "F" "no" "Netherlands" "" "0" "" "" "" "" "00081228" "" "" "" "1" "" "01596" "{PMID:Burgueno-Montanés 2014:24377952}" "probably consanguinity" "M" "?" "(Spain)" "" "0" "" "" "" "" "00081229" "" "" "" "1" "" "01596" "{PMID:Incecik 2013:24101836}" "" "M" "yes" "(Turkey)" "" "0" "" "valproic acid" "" "" "00081230" "" "" "" "1" "" "01596" "{PMID:Incecik 2013:24101836}, {DOI:Incecik 2013:10.4103/0972-2327.116927}" "" "M" "yes" "(Turkey)" "" "0" "" "" "" "" "00081231" "" "" "" "1" "" "01596" "{PMID:Yis 2012:22397046}" "Patients 1 and 2 are monozygotic twins with the same (very similar) clinical presentation" "?" "yes" "Turkey" "" "0" "" "" "" "" "00081232" "" "" "" "1" "" "01596" "{PMID:Yis 2012:22397046}" "" "F" "yes" "Turkey" "" "0" "" "\"multiple antiepileptic medications\"" "" "" "00081233" "" "" "" "1" "" "01596" "{PMID:Tachibana 2012:21713441}, {DOI:Tachibana 2012:10.1007/s00247-011-2156-6}" "" "F" "?" "(Japan)" "" "0" "" "" "" "" "00081234" "" "" "" "1" "" "01596" "{PMID:Engelstad 2011:21684788}, {DOI:Engelstad 2011:10.1016/j.ymgme.2011.05.015}" "" "F" "yes" "United States" "" "0" "" "therapy with etretinate, then isotretinoin (discontinued)" "" "" "00081235" "" "" "" "1" "" "01596" "{PMID:Engelstad 2011:21684788}, {DOI:Engelstad 2011:10.1016/j.ymgme.2011.05.015}" "Mother: Irish and Cherokee Indian descent\r\nFather: English and American Indian descent" "F" "no" "United States" "" "0" "" "" "" "" "00081236" "" "" "" "1" "" "01596" "{PMID:Sakai 2010:20883264}" "" "F" "no" "India" "" "0" "" "" "" "" "00081237" "" "" "" "1" "" "01596" "{PMID:Sakai 2010:20883264}" "" "F" "no" "India" "" "0" "" "multiple antiepileptic medications" "" "" "00081238" "" "" "" "1" "" "01596" "{PMID:Levisohn 1991:1836061}, {PMID:Carney 2004:15241804}, {DOI:Carney 2004:10.1002/humu.9262}, {PMID:Rizzo 2010:20049467}, {DOI:Rizzo 2010:10.1007/s00403-009-1022-y}" "probably consanguineous parents" "M" "?" "United States" "" "0" "" "" "" "Pat13;Pat1" "00081239" "" "" "" "1" "" "01596" "{PMID:Rizzo 2010:20049467}, {DOI:Rizzo 2010:10.1007/s00403-009-1022-y}" "more phenotype data available: PMID 1836061" "F" "?" "United States" "" "0" "" "" "" "" "00081240" "" "" "" "1" "" "01596" "{PMID:Rizzo 2010:20049467}, {DOI:Rizzo 2010:10.1007/s00403-009-1022-y}" "" "M" "?" "United States" "" "0" "" "" "" "" "00081241" "" "" "" "1" "" "01596" "{PMID:Rizzo 2010:20049467}, {DOI:Rizzo 2010:10.1007/s00403-009-1022-y}" "" "F" "?" "(United States)" "" "0" "" "" "" "" "00081242" "" "" "" "1" "" "01596" "{PMID:Rizzo 2010:20049467}, {DOI:Rizzo 2010:10.1007/s00403-009-1022-y}" "sibling of Pat8 (same paper)" "M" "?" "United States" "" "0" "" "" "" "" "00081243" "" "" "" "1" "" "01596" "{PMID:Rizzo 2010:20049467}, {DOI:Rizzo 2010:10.1007/s00403-009-1022-y}" "" "M" "?" "(United States)" "" "0" "" "" "" "" "00081244" "" "" "" "1" "" "01596" "{PMID:Rizzo 2010:20049467}, {DOI:Rizzo 2010:10.1007/s00403-009-1022-y}" "sibling of Pat7 (same paper)" "F" "?" "United States" "" "0" "" "" "" "" "00081245" "" "" "" "1" "" "01596" "{PMID:Rizzo 2010:20049467}, {DOI:Rizzo 2010:10.1007/s00403-009-1022-y}" "" "F" "?" "United States" "" "0" "" "" "" "" "00081246" "" "" "" "1" "" "01596" "{PMID:Ganemo 2009:19197545}, {DOI:Ganemo 2009:10.2340/00015555-0561}" "" "F" "?" "Sweden" "" "0" "" "oral acitretin (25mg/day), creams containing urea" "" "" "00081247" "" "" "" "1" "" "01596" "{PMID:Ganemo 2009:19197545}, {DOI:Ganemo 2009:10.2340/00015555-0561}" "" "M" "?" "Sweden" "" "0" "" "oral acitretin (10mg/week), creams" "" "" "00081248" "" "" "" "1" "" "01596" "{PMID:Ganemo 2009:19197545}, {DOI:Ganemo 2009:10.2340/00015555-0561}" "" "M" "?" "Sweden" "" "0" "" "oral acitretin (20mg/day), creams" "" "" "00081249" "" "" "" "1" "" "01596" "{PMID:Ganemo 2009:19197545}, {DOI:Ganemo 2009:10.2340/00015555-0561}" "" "M" "?" "Sweden" "" "0" "" "oral acitretin (10mg/day), creams containing urea" "" "" "00081250" "" "" "" "1" "" "01596" "{PMID:Ganemo 2009:19197545}, {DOI:Ganemo 2009:10.2340/00015555-0561}" "" "F" "?" "Sweden" "" "0" "" "oral acitretin (10mg/day), creams containing propylene glycol" "" "" "00081251" "" "" "" "1" "" "01596" "{PMID:Ganemo 2009:19197545}, {DOI:Ganemo 2009:10.2340/00015555-0561}" "" "F" "?" "Sweden" "" "0" "" "oral acitretin (20mg/day), creams containing urea" "" "" "00081252" "" "" "" "1" "" "01596" "{PMID:Ganemo 2009:19197545}, {DOI:Ganemo 2009:10.2340/00015555-0561}" "" "M" "?" "Sweden" "" "0" "" "oral acitretin (10mg/day), creams containing urea" "" "" "00081253" "" "" "" "1" "" "01596" "{PMID:Ganemo 2009:19197545}, {DOI:Ganemo 2009:10.2340/00015555-0561}" "" "F" "?" "Sweden" "" "0" "" "oral acitretin (25mg/day), creams containing propylene glycol" "" "" "00081254" "" "" "" "1" "" "01596" "{PMID:Ganemo 2009:19197545}, {DOI:Ganemo 2009:10.2340/00015555-0561}" "sibling of patient 18 (same paper)" "M" "?" "Sweden" "" "0" "" "oral acitretin (10mg/day), creams containing urea" "" "" "00081255" "" "" "" "1" "" "01596" "{PMID:Ganemo 2009:19197545}, {DOI:Ganemo 2009:10.2340/00015555-0561}" "" "F" "?" "Sweden" "" "0" "" "creams containing urea" "" "" "00081256" "" "" "" "1" "" "01596" "{PMID:Ganemo 2009:19197545}, {DOI:Ganemo 2009:10.2340/00015555-0561}" "" "M" "?" "Sweden" "" "0" "" "creams containing urea" "" "" "00081257" "" "" "" "1" "" "01596" "{PMID:Ganemo 2009:19197545}, {DOI:Ganemo 2009:10.2340/00015555-0561}" "" "M" "?" "Sweden" "" "0" "" "creams containing lactic acid and propylene glycol" "" "" "00081258" "" "" "" "1" "" "01596" "{PMID:Ganemo 2009:19197545}, {DOI:Ganemo 2009:10.2340/00015555-0561}" "" "M" "?" "Sweden" "" "0" "" "oral acitretin (10mg/day), creams containing urea" "" "" "00081259" "" "" "" "1" "" "01596" "{PMID:Ganemo 2009:19197545}, {DOI:Ganemo 2009:10.2340/00015555-0561}" "" "M" "?" "Sweden" "" "0" "" "oral acitretin (10mg/day), creams containing propylene glycol and lactic acid" "" "" "00081260" "" "" "" "1" "" "01596" "{PMID:Ganemo 2009:19197545}, {DOI:Ganemo 2009:10.2340/00015555-0561}" "" "F" "?" "Sweden" "" "0" "" "oral acitretin (25mg/day), creams containing propylene glycol and lactic acid" "" "" "00081261" "" "" "" "1" "" "01596" "{PMID:Ganemo 2009:19197545}, {DOI:Ganemo 2009:10.2340/00015555-0561}" "Sibling of patient 9 (same paper)" "F" "?" "Sweden" "" "0" "" "oral acitretin (10mg/day), creams containing urea" "" "" "00081262" "" "" "" "1" "" "01596" "{PMID:Ganemo 2009:19197545}, {DOI:Ganemo 2009:10.2340/00015555-0561}" "" "M" "?" "Sweden" "" "0" "" "creams" "" "" "00081263" "" "" "" "1" "" "01596" "{PMID:Ganemo 2009:19197545}, {DOI:Ganemo 2009:10.2340/00015555-0561}" "" "M" "?" "Sweden" "" "0" "" "oral acitretin (10mg/day), creams containing urea" "" "" "00081264" "" "" "" "1" "" "01596" "{PMID:Ganemo 2009:19197545}, {DOI:Ganemo 2009:10.2340/00015555-0561}" "" "F" "?" "Sweden" "" "0" "" "oral acitretin (25mg/day), creams" "" "" "00081266" "" "" "" "1" "" "01596" "{PMID:Ganemo 2009:19197545}, {DOI:Ganemo 2009:10.2340/00015555-0561}" "" "F" "?" "Sweden" "" "0" "" "oral acitretin (25mg/day), creams" "" "" "00081267" "" "" "" "1" "" "01596" "{PMID:Ganemo 2009:19197545}, {DOI:Ganemo 2009:10.2340/00015555-0561}" "" "M" "?" "Sweden" "" "0" "" "creams containing urea" "" "" "00081268" "" "" "" "1" "" "01596" "{PMID:Ganemo 2009:19197545}, {DOI:Ganemo 2009:10.2340/00015555-0561}" "" "M" "?" "Sweden" "" "0" "" "creams containing urea" "" "" "00081269" "" "" "" "1" "" "01596" "{PMID:Ganemo 2009:19197545}, {DOI:Ganemo 2009:10.2340/00015555-0561}" "" "F" "?" "Sweden" "" "0" "" "creams containing lactic acid and propylene glycol" "" "" "00081270" "" "" "" "1" "" "01596" "{PMID:Ganemo 2009:19197545}, {DOI:Ganemo 2009:10.2340/00015555-0561}" "" "F" "?" "Sweden" "" "0" "" "creams containing lactic acid and propylene glycol" "" "" "00081274" "" "" "" "1" "" "01596" "{PMID:Didona 2007:17902024}, {DOI:Didona 2007:10.1007/s10038-007-0180-z}" "" "F" "?" "Italy" "" "0" "" "surgical correction of leg contractures at 7 years of age" "" "" "00081275" "" "" "" "1" "" "01596" "{PMID:Didona 2007:17902024}, {DOI:Didona 2007:10.1007/s10038-007-0180-z}" "" "M" "?" "Italy" "" "0" "" "" "" "" "00081279" "" "" "" "1" "" "01596" "{PMID:Sakai 2006:16794583}" "" "F" "no" "Japan" "" "0" "" "" "" "" "00081280" "" "" "" "1" "" "01596" "{PMID:Auada 2006:16536828}, {DOI:Auada 2006:10.1111/j.1365-2133.2006.07135.x}" "" "F" "yes" "Brazil" "" "0" "" "" "" "" "00081281" "" "" "" "1" "" "01596" "{PMID:Auada 2006:16536828}, {DOI:Auada 2006:10.1111/j.1365-2133.2006.07135.x}" "" "F" "yes" "Brazil" "" "0" "" "" "" "" "00081282" "" "" "" "1" "" "01596" "{PMID:Auada 2006:16536828}, {DOI:Auada 2006:10.1111/j.1365-2133.2006.07135.x}" "" "M" "yes" "Brazil" "" "0" "" "" "" "" "00081283" "" "" "" "1" "" "01596" "{PMID:Auada 2006:16536828}, {DOI:Auada 2006:10.1111/j.1365-2133.2006.07135.x}" "sister of patients 5 and 6;\r\ncousin of patient 7 and 8 \r\n(same paper)" "F" "no" "Brazil" "" "0" "" "" "" "" "00081284" "" "" "" "1" "" "01596" "{PMID:Auada 2006:16536828}, {DOI:Auada 2006:10.1111/j.1365-2133.2006.07135.x}" "sister of patients 5 and 6;\r\ncousin of patient 7 and 8 \r\n(same paper)" "F" "no" "Brazil" "" "0" "" "" "" "" "00081285" "" "" "" "1" "" "01596" "{PMID:Auada 2006:16536828}, {DOI:Auada 2006:10.1111/j.1365-2133.2006.07135.x}" "sister of patients 5 and 6;\r\ncousin of patient 7 and 8 \r\n(same paper)" "F" "no" "Brazil" "" "0" "" "" "" "" "00081286" "" "" "" "1" "" "01596" "{PMID:Auada 2006:16536828}, {DOI:Auada 2006:10.1111/j.1365-2133.2006.07135.x}" "cousin of patients 4,5,6 (same paper)" "F" "no" "Brazil" "" "0" "" "" "" "" "00081287" "" "" "" "1" "" "01596" "{PMID:Auada 2006:16536828}, {DOI:Auada 2006:10.1111/j.1365-2133.2006.07135.x}" "cousin of patients 4,5,6 (same paper)" "M" "no" "Brazil" "" "0" "" "" "" "" "00081288" "" "" "" "1" "" "01596" "{PMID:Auada 2006:16536828}, {DOI:Auada 2006:10.1111/j.1365-2133.2006.07135.x}" "" "M" "yes" "Brazil" "" "0" "" "" "" "" "00081292" "" "" "" "1" "" "01596" "{PMID:Lossos 2006:16476818}, {DOI:Lossos 2006:10.1001/archneur.63.2.278}" "Patients 1-6 of this paper are siblings" "F" "yes" "Israel" "" "0" "" "" "Arab" "" "00081293" "" "" "" "1" "" "01596" "{PMID:Lossos 2006:16476818}, {DOI:Lossos 2006:10.1001/archneur.63.2.278}" "Patients 1-6 of this paper are siblings" "M" "yes" "Israel" "" "0" "" "" "Arab" "" "00081294" "" "" "" "1" "" "01596" "{PMID:Lossos 2006:16476818}, {DOI:Lossos 2006:10.1001/archneur.63.2.278}" "Patients 1-6 of this paper are siblings" "F" "yes" "Israel" "" "0" "" "" "Arab" "" "00081295" "" "" "" "1" "" "01596" "{PMID:Lossos 2006:16476818}, {DOI:Lossos 2006:10.1001/archneur.63.2.278}" "Patients 1-6 of this paper are siblings" "F" "yes" "Israel" "" "0" "" "" "Arab" "" "00081296" "" "" "" "1" "" "01596" "{PMID:Lossos 2006:16476818}, {DOI:Lossos 2006:10.1001/archneur.63.2.278}" "Patients 1-6 of this paper are siblings" "M" "yes" "Israel" "" "0" "" "" "Arab" "" "00081297" "" "" "" "1" "" "01596" "{PMID:Lossos 2006:16476818}, {DOI:Lossos 2006:10.1001/archneur.63.2.278}" "Patients 1-6 of this paper are siblings" "M" "yes" "Israel" "" "0" "" "" "Arab" "" "00081298" "" "" "" "1" "" "01596" "{PMID:Shibaki 2004:15610535}, {DOI:Shibaki 2004:10.1111/j.0022-202X.2004.23505.x}" "sibling of Pat2 (same paper)" "F" "?" "Japan" "" "0" "" "" "" "" "00081299" "" "" "" "1" "" "01596" "{PMID:Shibaki 2004:15610535}, {DOI:Shibaki 2004:10.1111/j.0022-202X.2004.23505.x}" "sibling of Pat1 (same paper)" "M" "?" "Japan" "" "0" "" "" "" "" "00081300" "" "" "" "1" "" "01596" "{PMID:Carney 2004:15241804}, {DOI:Carney 2004:10.1002/humu.9262}" "" "?" "?" "(United States)" "" "0" "" "" "" "Pat1" "00081301" "" "" "" "1" "" "01596" "{PMID:Carney 2004:15241804}, {DOI:Carney 2004:10.1002/humu.9262}" "probably consanguineous parents" "?" "" "(United States)" "" "0" "" "" "" "Pat2" "00081302" "" "" "" "1" "" "01596" "{PMID:Carney 2004:15241804}, {DOI:Carney 2004:10.1002/humu.9262}" "probably consanguineous parents" "?" "" "(United States)" "" "0" "" "" "" "Pat3" "00081303" "" "" "" "1" "" "01596" "{PMID:Carney 2004:15241804}, {DOI:Carney 2004:10.1002/humu.9262}" "probably consanguineous parents" "?" "" "(United States)" "" "0" "" "" "" "Pat4" "00081304" "" "" "" "1" "" "01596" "{PMID:Carney 2004:15241804}, {DOI:Carney 2004:10.1002/humu.9262}" "" "?" "?" "United States" "" "0" "" "" "" "Pat5" "00081305" "" "" "" "1" "" "01596" "{PMID:Carney 2004:15241804}, {DOI:Carney 2004:10.1002/humu.9262}" "probably consanguineous parents" "?" "" "(United States)" "" "0" "" "" "" "Pat7" "00081306" "" "" "" "1" "" "01596" "{PMID:Carney 2004:15241804}, {DOI:Carney 2004:10.1002/humu.9262}" "" "?" "" "(United States)" "" "0" "" "" "" "Pat8" "00081307" "" "" "" "1" "" "01596" "{PMID:Carney 2004:15241804}, {DOI:Carney 2004:10.1002/humu.9262}" "fetus\r\nprobably consanguineous parents" "?" "" "(United States)" "" "0" "" "" "" "Pat9" "00081309" "" "" "" "1" "" "01596" "{PMID:Carney 2004:15241804}, {DOI:Carney 2004:10.1002/humu.9262}" "probably consanguineous parents" "?" "" "(United States)" "" "0" "" "" "" "Pat10" "00081310" "" "" "" "1" "" "01596" "{PMID:Carney 2004:15241804}, {DOI:Carney 2004:10.1002/humu.9262}" "fetus\r\nprobably consanguineous parents" "?" "" "(United States)" "" "0" "" "" "" "Pat11" "00081311" "" "" "" "1" "" "01596" "{PMID:Carney 2004:15241804}, {DOI:Carney 2004:10.1002/humu.9262}" "probably consanguineous parents" "?" "" "(United States)" "" "0" "" "" "" "Pat12" "00081313" "" "" "" "1" "" "01596" "{PMID:Cubo 2000:11071513}, {DOI:Cubo 2000:10.1212/WNL.55.8.1236}" "patient of \"Caucasian, non-Jewish descent\"" "M" "?" "United States" "" "0" "" "\"started on several medications including benztropine, tryhexyphenidil, levodopa/carbidopa, baclofen, clonazepam, and diazepam without benefit\"" "" "" "00081315" "" "" "" "1" "" "01596" "{PMID:Aoki 2000:10792573}" "" "F" "no" "Japan" "" "0" "" "" "" "" "00088870" "" "" "" "1" "" "01596" "{PMID:Kraus 2000:10854114}" "" "?" "no" "Germany" "" "0" "" "" "" "" "00088943" "" "" "" "1" "" "01596" "{PMID:Kraus 2000:10854114}" "" "?" "no" "Germany" "" "0" "" "" "" "" "00088944" "" "" "" "1" "" "01596" "{PMID:Kraus 2000:10854114}" "" "?" "no" "Germany" "" "0" "" "" "" "" "00088945" "" "" "" "1" "" "01596" "{PMID:Kraus 2000:10854114}" "" "?" "no" "Germany" "" "0" "" "" "" "" "00088946" "" "" "" "1" "" "01596" "{PMID:Kraus 2000:10854114}" "" "?" "no" "Germany" "" "0" "" "" "" "" "00088947" "" "" "" "1" "" "01596" "{PMID:Kraus 2000:10854114}" "" "?" "no" "Germany" "" "0" "" "" "" "" "00088948" "" "" "" "1" "" "01596" "{PMID:Kraus 2000:10854114}" "" "?" "no" "Germany" "" "0" "" "" "" "" "00088949" "" "" "" "1" "" "01596" "{PMID:Kraus 2000:10854114}" "" "?" "no" "Germany" "" "0" "" "" "" "" "00088951" "" "" "" "1" "" "01596" "{PMID:Alio 2006:16903323}" "Lebanese and Mexican/Syrian ancestry" "F" "?" "(United States)" "" "0" "" "" "" "" "00088954" "" "" "" "1" "" "01596" "{PMID:Takeichi 2013:23450279}" "" "M" "no" "Japan" "" "0" "" "" "" "" "00088955" "" "" "" "1" "" "01596" "{PMID:Takeichi 2013:23450279}" "" "F" "no" "Japan" "" "0" "" "" "" "" "00089013" "" "" "" "1" "" "01596" "{PMID:Sanabria 2011:21968182}" "" "M" "no" "(Spain)" "" "0" "" "" "" "" "00089014" "" "" "" "1" "" "01596" "{PMID:Sanabria 2011:21968182}" "" "F" "no" "(Spain)" "" "0" "" "" "" "" "00089015" "" "" "" "1" "" "01596" "{PMID:Möhrenschlager 2005:16354271}" "original data: Möhrenschlager M, Rizzo WB, Kraus C, et al. Sjögren-\r\nLarsson-Syndrom. Hautarzt 2000;51:250–255." "F" "no" "(Germany)" "" "0" "" "" "" "" "00089024" "" "" "" "1" "" "01596" "{PMID:Jean-François 2007:17998529}" "" "M" "?" "(United States)" "" "0" "" "" "African American" "" "00089044" "" "" "" "1" "" "01596" "{PMID:Sillen 1998:9829906}" "" "?" "no" "Sweden" "" "0" "" "" "" "" "00089046" "" "" "" "1" "" "01596" "{PMID:Sillen 1998:9829906}" "" "?" "no" "Sweden" "" "0" "" "" "" "" "00089047" "" "" "" "1" "" "01596" "{PMID:Sillen 1998:9829906}" "" "?" "no" "Spain" "" "0" "" "" "" "" "00089048" "" "" "" "1" "" "01596" "{PMID:Sillen 1998:9829906}" "" "?" "yes" "Sweden" "" "0" "" "" "" "" "00089050" "" "" "" "1" "" "01596" "{PMID:Sillen 1998:9829906}" "" "?" "no" "Sweden" "" "0" "" "" "" "" "00089052" "" "" "" "1" "" "01596" "{PMID:Sillen 1998:9829906}" "" "?" "no" "Lebanon" "" "0" "" "" "" "" "00089054" "" "" "" "1" "" "01596" "{PMID:Sillen 1998:9829906}" "" "?" "no" "Germany" "" "0" "" "" "" "" "00089056" "" "" "" "1" "" "01596" "{PMID:Sillen 1998:9829906}" "" "?" "yes" "Turkey" "" "0" "" "" "" "" "00089067" "" "" "" "1" "" "01596" "{PMID:Sillen 1998:9829906}" "" "?" "no" "Switzerland" "" "0" "" "" "" "" "00089068" "" "" "" "1" "" "01596" "{PMID:Sillen 1998:9829906}" "" "?" "no" "Germany" "" "0" "" "" "" "" "00094006" "" "" "" "1" "" "01596" "{PMID:Nagappa 2017:28025403}{DOI:Madhu Nagappa 2017: http:/​/​dx.​doi.​org/​10.​1212/​WNL.​0000000000003456 }" "" "M" "no" "India" "" "0" "" "" "" "" "00094019" "" "" "" "1" "" "01596" "{PMID:De Laurenzi 1996:8528251}" "\"mixed European descent\"" "F" "yes" "" "" "0" "" "" "" "" "00094020" "" "" "" "1" "" "01596" "{PMID:De Laurenzi 1996:8528251}" "" "M" "yes" "Egypt" "" "0" "" "" "" "" "00100432" "" "" "" "1" "" "01596" "{PMID:Tsukamoto 1997: 9250352}" "\"Caucasian\" descent" "?" "?" "" "" "0" "" "" "" "" "00100433" "" "" "" "1" "" "01596" "{PMID:Rizzo 2008: 17971613}" "" "F" "" "United States" "" "0" "" "" "" "" "00100434" "" "" "" "1" "" "01596" "{PMID:Rizzo 2008:17971613}" "" "M" "" "United States" "" "0" "" "" "" "" "00100435" "" "" "" "1" "" "01596" "{PMID:Rizzo 2008: 17971613}" "" "M" "" "United States" "" "0" "" "" "" "" "00102100" "" "" "" "1" "" "01864" "" "" "M" "yes" "China" ">12y" "" "" "" "" "P30" "00108195" "" "" "" "1" "" "01596" "{PMID:Tavasoli 2016:27462357}" "" "M" "yes" "(Iran)" "" "0" "" "" "" "" "00110426" "" "" "" "1" "" "01596" "{PMID:García-Peris 2017:28410621}" "" "M" "no" "Spain" "" "0" "" "" "" "" "00110535" "" "" "" "1" "" "01596" "{PMID:Shamriz 2016:28471629}" "" "M" "" "Israel" "" "0" "" "" "" "" "00111378" "" "" "" "1" "" "01596" "{PMID:Shamriz 2016:28471629}" "" "M" "yes" "Israel" "" "0" "" "" "" "" "00113556" "" "" "" "1" "" "01596" "{PMID:Hidalgo 2017:28257279}" "" "M" "?" "United States" "" "0" "" "" "" "" "00113557" "" "" "" "1" "" "01596" "{PMID:Hidalgo 2017:28257279}" "" "F" "?" "United States" "" "0" "" "" "" "" "00113558" "" "" "" "1" "" "01596" "{PMID:Gaboon 2015:25855245}" "" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "" "00144394" "" "" "" "1" "" "01596" "{DOI:Taghdiri 2017: 10.1002/ccr3.1235}" "" "F" "yes" "Iran" "04y" "0" "" "" "" "" "00144438" "" "" "" "1" "" "01596" "{PMID:Kariminejad 2017:29183715}" "" "M" "yes" "Iran" "" "0" "" "anticonvulsants" "" "" "00144443" "" "" "" "1" "" "01596" "{PMID:Kariminejad 2017:29183715}" "" "M" "yes" "Iran" "" "0" "" "" "" "" "00144444" "" "" "" "1" "" "01596" "{PMID:Kariminejad 2017:29183715}" "" "F" "yes" "Iran" "" "0" "" "physiotherapy; anticonvulsants" "" "" "00144446" "" "" "" "1" "" "01596" "{PMID:Kariminejad 2017:29183715}" "" "M" "yes" "Iran" "" "0" "" "" "" "" "00144453" "" "" "" "1" "" "01596" "{PMID:Kariminejad 2017:29183715}" "" "F" "yes" "Iran" "" "0" "" "" "" "" "00144454" "" "" "" "1" "" "01596" "{PMID:Kariminejad 2017:29183715}" "" "M" "yes" "Iran" "" "0" "" "intensive physiotherapy; surgery for tendon release (at 5 years of age); surgery for hip dislocation (at 6 years of age)" "" "" "00144632" "" "" "" "1" "" "01596" "{PMID:Kim 2018:29071827 }" "" "M" "no" "Korea" "" "0" "" "" "" "" "00144633" "" "" "" "1" "" "01596" "{PMID:Papathemeli 2017:29181214 }" "" "F" "yes" "Greece" "" "0" "" "" "" "" "00164368" "" "" "" "1" "" "01596" "{PMID:Vural 2018:29704247}" "" "M" "yes" "(Germany)" "" "0" "" "oral Acitretin + topical emolients" "" "" "00164369" "" "" "" "1" "" "01596" "{PMID:Vural 2018:29704247}" "" "M" "yes" "(Germany)" "" "0" "" "oral Acitretin + topical emolients" "" "" "00164370" "" "" "" "1" "" "01596" "{PMID:Vural 2018:29704247}" "" "M" "yes" "(Germany)" "" "0" "" "oral Acitretin + topical emolients" "" "" "00164371" "" "" "" "1" "" "01596" "{PMID:Vural 2018:29704247}" "" "F" "yes" "(Germany)" "" "0" "" "oral Acitretin + topical emolients" "" "" "00164372" "" "" "" "1" "" "01596" "{PMID:Vural 2018:29704247}" "" "M" "yes" "(Germany)" "" "0" "" "oral Acitretin + topical emolients" "" "" "00164373" "" "" "" "1" "" "01596" "{PMID:Vural 2018:29704247}" "" "F" "yes" "(Germany)" "" "0" "" "oral Acitretin + topical emolients" "" "" "00164374" "" "" "" "1" "" "01596" "{PMID:Vural 2018:29704247}" "" "F" "yes" "(Germany)" "" "0" "" "oral Acitretin + topical emolients" "" "" "00164457" "" "" "" "1" "" "01596" "{PMID:Paiva 2018:29742247}" "" "M" "" "(Brazil)" "" "0" "" "orthopedic procedures for correction of deformities" "" "" "00179418" "" "" "" "1" "" "01596" "{PMID:Shah 2017 : 29130490}" "all three patients of this paper are brothers" "M" "yes" "Pakistan" "?" "0" "" "" "" "" "00179419" "" "" "" "1" "" "01596" "{PMID:Shah 2017 : 29130490}" "all three patients of this paper are brothers" "M" "yes" "Pakistan" "?" "0" "" "" "" "" "00179420" "" "" "" "1" "" "01596" "{PMID:Shah 2017 : 29130490}" "all three patients of this paper are brothers" "M" "yes" "Pakistan" "" "0" "" "" "" "" "00179454" "" "" "" "1" "" "01596" "{PMID:Tanteles 2015: 26394537}" "" "M" "no" "Cyprus" "" "0" "" "" "" "" "00179456" "" "" "" "1" "" "01596" "{PMID:Tanteles 2015: 26394537}" "" "M" "no" "Cyprus" "" "0" "" "tenotomies hips/ankles at 7, 10 and 13 years of age" "" "" "00179458" "" "" "" "1" "" "01596" "{PMID:Tanteles 2015:26394537}" "statement regarding consanguinity: \"3rd cousins once removed\"" "F" "" "Cyprus" "" "0" "" "" "" "" "00179510" "" "" "" "1" "" "01596" "{PMID:Botelho 2011: 21524986}" "" "F" "yes" "(Portugal)" "" "0" "" "" "" "" "00179512" "" "" "" "1" "" "01596" "{PMID:Sijens 2009: 19656702}" "" "F" "?" "(Netherlands)" "" "0" "" "" "" "" "00179518" "" "" "" "1" "" "01596" "{PMID:Nakano 2008: 18684595}" "" "M" "?" "Japan" "" "0" "" "" "" "" "00180959" "" "" "" "1" "" "01596" "{PMID:Nakajima 2011: 21531120}" "" "F" "?" "Japan" "" "0" "" "" "" "" "00180975" "" "" "" "1" "" "01596" "{PMID:Incecik 2018:29899769}" "patient 3 and 4 are siblings" "M" "yes" "Turkey" "" "0" "" "" "" "" "00180976" "" "" "" "1" "" "01596" "{PMID:Incecik 2018:29899769}" "patient 3 and 4 are siblings" "M" "yes" "Turkey" "" "0" "" "" "" "" "00180977" "" "" "" "1" "" "01596" "{PMID:Incecik 2018:29899769}" "patients 5 and 6 are siblings" "M" "yes" "Turkey" "" "0" "" "" "" "" "00180978" "" "" "" "1" "" "01596" "{PMID:Incecik 2018:29899769}" "patients 5 and 6 are siblings" "F" "yes" "Turkey" "" "0" "" "" "" "" "00180979" "" "" "" "1" "" "01596" "{PMID:Incecik 2018:29899769}" "patients 7 and 8 are siblings" "M" "yes" "Turkey" "" "0" "" "" "" "" "00180980" "" "" "" "1" "" "01596" "{PMID:Incecik 2018:29899769}" "patients 7 and 8 are siblings" "F" "yes" "Turkey" "" "0" "" "" "" "" "00180981" "" "" "" "1" "" "01596" "{PMID:Rafai 2008:18951768}" "" "F" "no" "Morocco" "" "0" "" "" "" "" "00181090" "" "" "" "1" "" "01596" "{PMID:Jain 2015:25532748}" "monozygotic twin sisters with same clinical features" "F" "yes" "(India)" "" "0" "" "" "" "" "00181091" "" "" "" "1" "" "01596" "{PMID:Jain 2015:25532748}" "patients 3 and 4 are brothers" "M" "yes" "(India)" "" "0" "" "" "" "" "00181092" "" "" "" "1" "" "01596" "{PMID:Jain 2015:25532748}" "patients 3 and 4 are brothers" "M" "yes" "(India)" "" "0" "" "" "" "" "00181142" "" "" "" "1" "" "01596" "" "" "F" "" "" "" "0" "" "" "" "" "00291658" "" "" "" "207" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00303631" "" "" "" "2" "" "00006" "{PMID:Makrythanasis 2014:25044680}" "family, 2 affected" "" "yes" "Jordan" "" "0" "" "" "" "Family_46" "00304571" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00306774" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00308944" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00374184" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4350" "00383873" "" "" "" "1" "" "00000" "{PMID:Abu Diab 2019:30925032}" "" "F" "yes" "Israel" "" "0" "" "" "Arabic" "MOL1592 II:5" "00387791" "" "" "" "2" "" "00006" "{PMID:Hu 2019:29302074}" "family, 2 affected individuals" "" "" "Iran" "" "0" "" "" "Persia" "M8600492" "00408100" "" "" "" "1" "" "00000" "{PMID:Alabdullatif 2017:27717089}" "" "F" "yes" "United Arab Emirates" "" "0" "" "" "" "186" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 188 "{{individualid}}" "{{diseaseid}}" "00064676" "01003" "00074600" "01003" "00079126" "01003" "00079361" "01003" "00079569" "01003" "00079570" "01003" "00079633" "01003" "00079634" "01003" "00079874" "01003" "00079916" "01003" "00079917" "01003" "00079918" "01003" "00079919" "01003" "00079920" "01003" "00080727" "01003" "00080754" "01003" "00080755" "01003" "00080756" "01003" "00080757" "01003" "00080758" "01003" "00081222" "01003" "00081223" "01003" "00081224" "01003" "00081225" "01003" "00081226" "01003" "00081227" "01003" "00081228" "01003" "00081229" "01003" "00081230" "01003" "00081231" "01003" "00081232" "01003" "00081233" "01003" "00081234" "01003" "00081235" "01003" "00081236" "01003" "00081237" "01003" "00081238" "01003" "00081239" "01003" "00081240" "01003" "00081241" "01003" "00081242" "01003" "00081243" "01003" "00081244" "01003" "00081245" "01003" "00081246" "01003" "00081247" "01003" "00081248" "01003" "00081249" "01003" "00081250" "01003" "00081251" "01003" "00081252" "01003" "00081253" "01003" "00081254" "01003" "00081255" "01003" "00081256" "01003" "00081257" "01003" "00081258" "01003" "00081259" "01003" "00081260" "01003" "00081261" "01003" "00081262" "01003" "00081263" "01003" "00081264" "01003" "00081266" "01003" "00081267" "01003" "00081268" "01003" "00081269" "01003" "00081270" "01003" "00081274" "01003" "00081275" "01003" "00081279" "01003" "00081280" "01003" "00081281" "01003" "00081282" "01003" "00081283" "01003" "00081284" "01003" "00081285" "01003" "00081286" "01003" "00081287" "01003" "00081288" "01003" "00081292" "01003" "00081293" "01003" "00081294" "01003" "00081295" "01003" "00081296" "01003" "00081297" "01003" "00081298" "01003" "00081299" "01003" "00081300" "01003" "00081301" "01003" "00081302" "01003" "00081303" "01003" "00081304" "01003" "00081305" "01003" "00081306" "01003" "00081307" "01003" "00081309" "01003" "00081310" "01003" "00081311" "01003" "00081313" "01003" "00081315" "01003" "00088870" "01003" "00088943" "01003" "00088944" "01003" "00088945" "01003" "00088946" "01003" "00088947" "01003" "00088948" "01003" "00088949" "01003" "00088951" "01003" "00088954" "01003" "00088955" "01003" "00089013" "01003" "00089014" "01003" "00089015" "01003" "00089024" "01003" "00089044" "01003" "00089046" "01003" "00089047" "01003" "00089048" "01003" "00089050" "01003" "00089052" "01003" "00089054" "01003" "00089056" "01003" "00089067" "01003" "00089068" "01003" "00094006" "01003" "00094019" "01003" "00094020" "01003" "00100432" "01003" "00100433" "01003" "00100434" "01003" "00100435" "01003" "00102100" "00139" "00108195" "01003" "00110426" "01003" "00110535" "01003" "00111378" "01003" "00113556" "01003" "00113557" "01003" "00113558" "01003" "00144394" "01003" "00144438" "01003" "00144443" "00877" "00144444" "01003" "00144446" "01003" "00144453" "01003" "00144454" "01003" "00144632" "01003" "00144633" "01003" "00164368" "01003" "00164369" "01003" "00164370" "01003" "00164371" "01003" "00164372" "01003" "00164373" "01003" "00164374" "01003" "00164457" "01003" "00179418" "01003" "00179419" "01003" "00179420" "01003" "00179454" "01003" "00179456" "01003" "00179458" "01003" "00179510" "01003" "00179512" "01003" "00179518" "01003" "00180959" "01003" "00180975" "01003" "00180976" "01003" "00180977" "01003" "00180978" "01003" "00180979" "01003" "00180980" "01003" "00180981" "01003" "00181090" "01003" "00181091" "01003" "00181092" "01003" "00181142" "01003" "00291658" "00198" "00303631" "00198" "00304571" "00198" "00306774" "00198" "00308944" "04214" "00374184" "00198" "00383873" "04214" "00387791" "00139" "00408100" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00877, 01003, 04214 ## Count = 176 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000050877" "01003" "00064676" "00006" "Familial, autosomal recessive" "03y" "HP:0007503 (Generalized Ichthyosis); HP:0001257 (Spasticity); \r\nHP:0001249 (intellectual disability)" "" "" "" "" "" "" "" "" "" "" "" "0000054366" "01003" "00074600" "01596" "Familial, autosomal recessive" "" "HP:0012758 (neurodevelopmental delay); HP:0001622 (premature birth, 31 weeks, complications by infections at 6/7 months: malaria, varicella);\r\nHP:0007503 (generalized ichtyosis,neck, trunk, extremities);\r\nHP:0001250 (seizures; brief and isolated, remission without treatment);\r\nHP:0000962 (hyperkeratosis);\r\nHP:0000989 (pruritus);\r\nHP:0007894 (Fundus hypopigmentation, mild);\r\nHP:0007034 (generalized hyperreflexia);\r\nHP:0001264 (spastic diplegia, lower ex more than upper ex)" "" "" "" "" "" "" "" "" "" "" "" "0000058854" "01003" "00079126" "01596" "Familial, autosomal recessive" "" "HP:0007503 (generalized Ichthyosis, entire body); HP:0012758 (neurodevelopmental delay, movement, speech); HP:0002510 (spastic quadriplegia, partial contractures in all extremeties);\r\nHP:0011400 (abnormal CNS myelination); HP:0001250 (seizures); HP:0001336 (nocturnal myoclonus); HP:0000297 (facial hypotonia); HP:0000670 (dental caries); HP:0000028 (Cryptorchidism, maldescensus of right testicle); HP:0012203 (onychomycosis, fingernails); HP:0007957 (corneal opacity); HP:0000613 (photophobia, severe)" "" "" "" "" "" "" "" "" "" "" "" "0000059089" "01003" "00079361" "01596" "Familial, autosomal recessive" "07y" "HP:0007503 (Generalized Ichthyosis); \r\nHP:0000989 (Pruritus);\r\nHP:0012758 (Neurodevelopmental delay); HP:0001258 (Spastic paraplegia); HP:0007702 (Pigmentary retinal deposits, \"white glistening dots\"); HP:0007266 (Cerebral dysmyelination);" "" "" "" "" "" "" "" "" "" "" "" "0000059293" "01003" "00079569" "01596" "Familial, autosomal recessive" "14y" "HP:0007503 (Generalized Ichthyosis); \r\nHP:0000989 (Pruritus);\r\nHP:0012758 (Neurodevelopmental delay); HP:0001258 (Spastic paraplegia); HP:0007702 (Pigmentary retinal deposits, \"white glistening dots\"); HP:0007266 (Cerebral dysmyelination)" "" "" "" "" "" "" "" "" "" "" "" "0000059294" "01003" "00079570" "01596" "Familial, autosomal recessive" "18y" "HP:0007503 (Generalized Ichthyosis); \r\nHP:0000989 (Pruritus);\r\nHP:0012758 (Neurodevelopmental delay); HP:0001258 (Spastic paraplegia); HP:0007702 (Pigmentary retinal deposits, \"white glistening dots\"); HP:0007266 (Cerebral dysmyelination)" "" "" "" "" "" "" "" "" "" "" "" "0000059357" "01003" "00079633" "01596" "Familial, autosomal recessive" "02y" "HP:0007503 (Generalized Ichthyosis); \r\nHP:0000989 (Pruritus);\r\nHP:0012758 (Neurodevelopmental delay); HP:0001258 (Spastic paraplegia); HP:0007266 (Cerebral dysmyelination)" "" "" "" "" "" "" "" "" "" "" "" "0000059358" "01003" "00079634" "01596" "Familial, autosomal recessive" "01y" "HP:0007503 (Generalized Ichthyosis); \r\nHP:0000989 (Pruritus);\r\nHP:0012758 (Neurodevelopmental delay); HP:0001258 (Spastic paraplegia); HP:0007266 (Cerebral dysmyelination)" "" "" "" "" "" "" "" "" "" "" "" "0000059587" "01003" "00079874" "01596" "Familial, autosomal recessive" "04y" "HP:0007503 (Generalized Ichthyosis, severe); HP:0000989 (Pruritus, severe); HP:0001257 (Spasticity, moderate); HP:0001249 (intellectual disability, severe); HP:0030507 (retinal crystals); HP:0000613 (photophobia); HP:0001622 (premature birth, 35 weeks); HP:0002188 (Delayed CNS myelination)" "" "" "" "" "" "" "" "" "" "" "" "0000059612" "01003" "00079916" "01596" "Familial, autosomal recessive" "07y" "HP:0007503 (Generalized Ichthyosis, severe); HP:0000989 (Pruritus, severe); HP:0001257 (Spasticity, severe); HP:0001249 (intellectual disability, severe); HP:0030507 (retinal crystals); HP:0000613 (photophobia); HP:0002188 (Delayed CNS myelination)" "" "" "" "" "" "" "" "" "" "" "" "0000059613" "01003" "00079917" "01596" "Familial, autosomal recessive" "09y" "HP:0007503 (Generalized Ichthyosis, severe); HP:0000989 (Pruritus, severe); HP:0001257 (Spasticity, severe); HP:0001249 (intellectual disability, severe); HP:0030507 (retinal crystals); HP:0000613 (photophobia); HP:0001622 (premature birth, 36 weeks); HP:0002188 (Delayed CNS myelination)" "" "" "" "" "" "" "" "" "" "" "" "0000059614" "01003" "00079918" "01596" "Familial, autosomal recessive" "09y" "HP:0007503 (Generalized Ichthyosis, severe); HP:0000989 (Pruritus, severe); HP:0001257 (Spasticity, severe); HP:0001249 (intellectual disability, IQ 55); HP:0030507 (retinal crystals); HP:0000613 (photophobia); HP:0001622 (premature birth, 38 weeks); HP:0002188 (Delayed CNS myelination)" "" "" "" "" "" "" "" "" "" "" "" "0000059615" "01003" "00079919" "01596" "Familial, autosomal recessive" "17y" "HP:0007503 (Generalized Ichthyosis, severe); HP:0000989 (Pruritus, severe); HP:0001257 (Spasticity, moderate); HP:0001249 (intellectual disability, IQ 56); HP:0030507 (retinal crystals); HP:0000613 (photophobia); HP:0001622 (premature birth, 36,5 weeks); HP:0002188 (Delayed CNS myelination)" "" "" "" "" "" "" "" "" "" "" "" "0000059616" "01003" "00079920" "01596" "Familial, autosomal recessive" "18y" "HP:0007503 (Generalized Ichthyosis, severe); HP:0000989 (Pruritus, severe); HP:0001257 (Spasticity, moderate); HP:0001249 (intellectual disability, IQ 54); HP:0030507 (retinal crystals); HP:0000613 (photophobia); HP:0001622 (premature birth, 37,5 weeks); HP:0002188 (Delayed CNS myelination" "" "" "" "" "" "" "" "" "" "" "" "0000060302" "01003" "00080727" "01596" "Familial, autosomal recessive" "21y" "HP:0007503 (Generalized Ichthyosis, severe); HP:0000989 (Pruritus, severe); HP:0001257 (Spasticity, severe); HP:0001249 (intellectual disability, IQ 50); HP:0030507 (retinal crystals); HP:0001622 (premature birth, 28 weeks); HP:0002188 (Delayed CNS myelination)" "" "" "" "" "" "" "" "" "" "" "" "0000060333" "01003" "00080754" "01596" "Familial, autosomal recessive" "02y" "HP:0007503 (Generalized Ichthyosis, severe); HP:0000989 (Pruritus, severe); HP:0001257 (Spasticity, moderate); HP:0001249 (intellectual disability); HP:0030507 (retinal crystals); HP:0000613 (photophobia); HP:0001622 (premature birth, 34,5 weeks); HP:0002188 (Delayed CNS myelination)" "" "" "" "" "" "" "" "" "" "" "" "0000060334" "01003" "00080755" "01596" "Familial, autosomal recessive" "08y" "HP:0007503 (Generalized Ichthyosis, severe); HP:0000989 (Pruritus, severe); HP:0001257 (Spasticity, moderate); HP:0001249 (intellectual disability, IQ 61); HP:0030507 (retinal crystals); HP:0000613 (photophobia); HP:0001622 (premature birth, 36,5 weeks); HP:0002188 (Delayed CNS myelination)" "" "" "" "" "" "" "" "" "" "" "" "0000060335" "01003" "00080756" "01596" "Familial, autosomal recessive" "11y" "HP:0007503 (Generalized Ichthyosis, severe); HP:0000989 (Pruritus, severe); HP:0001257 (Spasticity, severe); HP:0001249 (intellectual disability); HP:0030507 (retinal crystals); HP:0000613 (photophobia); HP:0001622 (premature birth, 35 weeks); HP:0002188 (Delayed CNS myelination)" "" "" "" "" "" "" "" "" "" "" "" "0000060336" "01003" "00080757" "01596" "Familial, autosomal recessive" "09y" "HP:0007503 (Generalized Ichthyosis, severe); HP:0000989 (Pruritus, severe); HP:0001257 (Spasticity, moderate); HP:0001249 (intellectual disability, IQ 49); HP:0030507 (retinal crystals); HP:0000613 (photophobia); HP:0001622 (premature birth, 34 weeks); HP:0002188 (Delayed CNS myelination)" "" "" "" "" "" "" "" "" "" "" "" "0000060337" "01003" "00080758" "01596" "Familial, autosomal recessive" "16y" "HP:0007503 (Generalized Ichthyosis, severe); HP:0000989 (Pruritus, severe); HP:0001257 (Spasticity, severe); HP:0001249 (intellectual disability, IQ 48); HP:0030507 (retinal crystals); HP:0000613 (photophobia); HP:0001622 (premature birth, 33 weeks); HP:0002188 (Delayed CNS myelination)" "" "" "" "" "" "" "" "" "" "" "" "0000060800" "01003" "00081222" "01596" "Familial, autosomal recessive" "13y" "HP:0007503 (Generalized Ichthyosis, severe); HP:0000989 (Pruritus, severe); HP:0001257 (Spasticity, severe); HP:0001249 (intellectual disability); HP:0030507 (retinal crystals); HP:0000613 (photophobia); HP:0001622 (premature birth, 36 weeks); HP:0002188 (Delayed CNS myelination)" "" "" "" "" "" "" "" "" "" "" "" "0000060801" "01003" "00081223" "01596" "Familial, autosomal recessive" "14y" "HP:0007503 (Generalized Ichthyosis, severe); HP:0000989 (Pruritus, severe); HP:0001257 (Spasticity, moderate); HP:0001249 (intellectual disability, IQ 48); HP:0030507 (retinal crystals); HP:0000613 (photophobia); HP:0001622 (premature birth, 35 weeks); HP:0002188 (Delayed CNS myelination)" "" "" "" "" "" "" "" "" "" "" "" "0000060802" "01003" "00081224" "01596" "Familial, autosomal recessive" "45y" "HP:0007503 (Generalized Ichthyosis, severe); HP:0000989 (Pruritus, severe); HP:0001257 (Spasticity, severe); HP:0001249 (intellectual disability)" "" "" "" "" "" "" "" "" "" "" "" "0000060803" "01003" "00081225" "01596" "Familial, autosomal recessive" "46y" "HP:0007503 (Generalized Ichthyosis, severe); HP:0000989 (Pruritus, severe); HP:0001257 (Spasticity, severe); HP:0001249 (intellectual disability)" "" "" "" "" "" "" "" "" "" "" "" "0000060804" "01003" "00081226" "01596" "Familial, autosomal recessive" "42y" "HP:0007503 (Generalized Ichthyosis, moderate); HP:0000989 (Pruritus, moderate); HP:0001257 (Spasticity, mild); HP:0001249 (intellectual disability, IQ 83, mild); HP:0030507 (retinal crystals); HP:0000613 (photophobia)" "" "" "" "" "" "" "" "" "" "" "" "0000060805" "01003" "00081227" "01596" "Familial, autosomal recessive" "46y" "HP:0007503 (Generalized Ichthyosis, mild); HP:0000989 (Pruritus, mild); HP:0001249 (intellectual disability, IQ 84, mild); HP:0030507 (retinal crystals); HP:0000613 (photophobia); HP:0001622 (premature birth, <37 weeks); HP:0002188 (Delayed CNS myelination)" "" "" "" "" "" "" "" "" "" "" "" "0000060806" "01003" "00081228" "01596" "Familial, autosomal recessive" "30y" "HP:0007503 (Generalized Ichthyosis); HP:0001249 (intellectual disability); HP:0001250 (seizures); HP:0001264 (spastic diplegia); HP:0007663 (reduced visual acuity, 0,5 in both eyes); HP:0030507 (retinal crystals); HP:0007305 (CNS demyelination, periventricular white matter)" "" "" "" "" "" "" "" "" "" "" "" "0000060807" "01003" "00081229" "01596" "Familial, autosomal recessive" "12y" "HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0001257 (Spasticity, unable to walk); HP:0001249 (intellectual disability, moderate); HP:0001250 (seizures); HP:0007305 (CNS demyelination, periventricular); HP:0001622 (premature birth, 32 weeks);\r\nHP:0006801 (hyperact. deep tendon refl.)" "" "" "" "" "" "" "" "" "" "" "" "0000060808" "01003" "00081230" "01596" "Familial, autosomal recessive" "20y" "HP:0007503 (Generalized Ichthyosis, severe); HP:0000989 (Pruritus); HP:0001257 (Spasticity); HP:0002510 (spastic tetraplegia); HP:0001249 (intellectual disability);HP:0007305 (CNS demyelination, periventricular); HP:0030507 (retinal crystals);\r\nHP:0006801 (hyperact. deep tendon refl.)" "" "" "" "" "" "" "" "" "" "" "" "0000060809" "01003" "00081231" "01596" "Familial, autosomal recessive" "04y" "HP:0007503 (Generalized Ichthyosis, severe); HP:0001622 (premature birth, 34 weeks); HP:0001257 (Spasticity, more prominent in lower extremities); HP:0001249 (intellectual disability); HP:0002188 (Delayed CNS myelination, periventricular);\r\nHP:0006801 (hyperactive deep tendon refl.)" "" "" "" "" "" "" "" "" "" "" "" "0000060810" "01003" "00081232" "01596" "Familial, autosomal recessive" "06y" "HP:0007503 (Generalized Ichthyosis, severe); HP:0001250 (seizures); HP:0001249 (intellectual disability); HP:0002188 (Delayed CNS myelination, periventricular); HP:0002510 (spastic tetraplegia);\r\nHP:0006801 (hyperactive deep tendon refl.)" "" "" "" "" "" "" "" "" "" "" "" "0000060811" "01003" "00081233" "01596" "Familial, autosomal recessive" "05y" "HP:0007503 (Generalized Ichthyosis); HP:0001257 (Spasticity, more prominent in lower extremities); HP:0007266 (Cerebral dysmyelination, periventricular, very mild); abnormal H-MRS lipid peaks at 1.3 ppm (prominent) and 0.9 ppm (small, narrow);\r\nHP:0006801 (hyperact. deep tendon refl.)" "" "" "" "" "" "" "" "" "" "" "" "0000060812" "01003" "00081234" "01596" "Familial, autosomal recessive" "24y" "HP:0007503 (Generalized Ichthyosis, severe); HP:0000989 (Pruritus); HP:0001622 (premature birth, 32 weeks); HP:0001250 (seizures, associated with hypocalcemia); HP:0001270 (motor delay); HP:0000750 (Delayed speech and language development); HP:0002510 (Spastic tetraplegia); HP:0001249 (intellectual disability); HP:0007266 (Cerebral dysmyelination); HP:0005750 (Contractures of the joints of the lower limbs); HP:0002015 (dysphagia); HP:0000498 (Blepharitis); no retinal abnormalities!" "" "" "" "" "" "" "" "" "" "" "" "0000060813" "01003" "00081235" "01596" "Familial, autosomal recessive" "01y07m" "HP:0007503 (Generalized Ichthyosis, severe); HP:0000989 (Pruritus); HP:0009237 (Short 5th finger, bilaterally); HP:0001264 (Spastic diplegia); HP:0008936 (Muscular hypotonia of the trunk, problems with sitting); HP:0001250 (seizures); HP:0001622 (premature birth, 36 weeks); no ocular or visual abnormalities!" "" "" "" "" "" "" "" "" "" "" "" "0000060814" "01003" "00081236" "01596" "Familial, autosomal recessive" "01y06m" "HP:0007503 (Generalized Ichthyosis, severe); HP:0002510 (Spastic tetraplegia); HP:0001249 (intellectual disability); HP:0030507 (retinal crystals, \"white dots\")" "" "" "" "" "" "" "" "" "" "" "" "0000060815" "01003" "00081237" "01596" "Familial, autosomal recessive" ">01y06m" "HP:0007503 (Generalized Ichthyosis, severe); HP:0002510 (Spastic tetraplegia, severe); HP:0001263 (Global developmental delay); HP:0001249 (intellectual disability, severe); HP:0001250 (seizures); HP:0030507 (retinal crystals, \"white dots\"); HP:0000613 (photophobia, severe); HP:0000316 (hypertelorism); HP:0000268 (Dolichocephaly); HP:0000527 (Long eyelashes); HP:0010743 (short metatarsal, D3,D4 and D5); HP:0002267 (Exaggerated startle response); HP:0007266 (Cerebral dysmyelination)" "" "" "" "" "" "" "" "" "" "" "" "0000060816" "01003" "00081238" "01596" "Familial, autosomal recessive" "32y" "HP:0007503 (generalized ichthyosis); \"neurologic symptoms typical of SLS\"; HP:0001264 (spastic diplegia);\r\nHP:0001249 (intellectual disability, severe); more phenotype data available: PMID 1836061" "" "" "" "" "" "" "" "" "" "" "" "0000060817" "01003" "00081239" "01596" "Familial, autosomal recessive" "34y" "HP:0007503 (Generalized Ichthyosis); \"neurologic symptoms typical of SLS\"" "" "" "" "" "" "" "" "" "" "" "" "0000060818" "01003" "00081240" "01596" "Familial, autosomal recessive" "04y" "HP:0007503 (Generalized Ichthyosis); \"neurologic symptoms typical of SLS\"" "" "" "" "" "" "" "" "" "" "" "" "0000060819" "01003" "00081241" "01596" "Familial, autosomal recessive" "03y" "HP:0007503 (Generalized Ichthyosis); \"neurologic symptoms typical of SLS\"" "" "" "" "" "" "" "" "" "" "" "" "0000060820" "01003" "00081243" "01596" "Familial, autosomal recessive" "01y" "HP:0007503 (Generalized Ichthyosis); \"neurologic symptoms typical of SLS\"" "" "" "" "" "" "" "" "" "" "" "" "0000060821" "01003" "00081242" "01596" "Familial, autosomal recessive" "21y" "HP:0007503 (Generalized Ichthyosis); \"neurologic symptoms typical of SLS\"" "" "" "" "" "" "" "" "" "" "" "" "0000060822" "01003" "00081244" "01596" "Familial, autosomal recessive" "19y" "HP:0007503 (Generalized Ichthyosis); \"neurologic symptoms typical of SLS\"" "" "" "" "" "" "" "" "" "" "" "" "0000060823" "01003" "00081245" "01596" "Familial, autosomal recessive" "15y" "HP:0007503 (Generalized Ichthyosis); \"neurologic symptoms typical of SLS\"" "" "" "" "" "" "" "" "" "" "" "" "0000060824" "01003" "00081246" "01596" "Familial, autosomal recessive" "76y" "HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0001264 (Spastic diplegia, severe, wheelchair-bound); Motor disability in arms (mild);\r\nHP:0005656 (Positional foot deformity);\r\nHP:0001249 (intellectual disability, with severe speech disorder); HP:0000966 (Hypohidrosis); HP:0030507 (retinal crystals); HP:0000613 (photophobia)" "" "" "" "" "" "" "" "" "" "" "" "0000060825" "01003" "00081247" "01596" "Familial, autosomal recessive" "70y" "HP:0007503 (Generalized Ichthyosis); HP:0000982 (Palmoplantar keratoderma); HP:0001264 (Spastic diplegia, severe, wheelchair-bound); Motor disability in arms (moderate);\r\nHP:0005656 (Positional foot deformity, severe);\r\nHP:0001249 (intellectual disability, with severe speech disorder); HP:0000966 (Hypohidrosis); HP:0030507 (retinal crystals); HP:0000613 (photophobia)" "" "" "" "" "" "" "" "" "" "" "" "0000060826" "01003" "00081248" "01596" "Familial, autosomal recessive" "66y" "HP:0007503 (Generalized Ichthyosis); HP:0000982 (Palmoplantar keratoderma); HP:0001264 (Spastic diplegia, severe, wheelchair-bound); Motor disability in arms (mild);\r\nHP:0005656 (Positional foot deformity, severe);\r\nHP:0001249 (intellectual disability, with moderate speech disorder); HP:0000966 (Hypohidrosis); HP:0030507 (retinal crystals); HP:0000613 (photophobia)" "" "" "" "" "" "" "" "" "" "" "" "0000060827" "01003" "00081249" "01596" "Familial, autosomal recessive" "63y" "HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0001264 (Spastic diplegia, severe, wheelchair-bound); Motor disability in arms (moderate);\r\nHP:0005656 (Positional foot deformity, severe);\r\nHP:0001249 (intellectual disability, with severe speech disorder); HP:0000966 (Hypohidrosis); HP:0030507 (retinal crystals); HP:0000613 (photophobia)" "" "" "" "" "" "" "" "" "" "" "" "0000060828" "01003" "00081250" "01596" "Familial, autosomal recessive" "56y" "HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0001264 (Spastic diplegia, severe, wheelchair-bound); Motor disability in arms (moderate);\r\nHP:0005656 (Positional foot deformity, severe);\r\nHP:0001249 (intellectual disability, with mild speech disorder); HP:0030507 (retinal crystals); HP:0000613 (photophobia)" "" "" "" "" "" "" "" "" "" "" "" "0000060829" "01003" "00081251" "01596" "Familial, autosomal recessive" "53y" "HP:0007503 (Generalized Ichthyosis); HP:0000982 (Palmoplantar keratoderma); HP:0000989 (Pruritus); HP:0001264 (Spastic diplegia, moderate); Motor disability in arms (mild);\r\nHP:0005656 (Positional foot deformity, moderate);\r\nHP:0001249 (intellectual disability, with mild speech disorder); HP:0030507 (retinal crystals); HP:0000613 (photophobia)" "" "" "" "" "" "" "" "" "" "" "" "0000060830" "01003" "00081252" "01596" "Familial, autosomal recessive" "51y" "HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0001264 (Spastic diplegia, severe); Motor disability in arms (mild); HP:0005656 (Positional foot deformity, moderate); HP:0001249 (intellectual disability, with mild speech disorder); HP:0000966 (Hypohidrosis); HP:0030507 (retinal crystals); HP:0000613 (photophobia)" "" "" "" "" "" "" "" "" "" "" "" "0000060831" "01003" "00081253" "01596" "Familial, autosomal recessive" "47y" "HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0001264 (Spastic diplegia, severe, wheelchair-bound); Motor disability in arms (mild);\r\nHP:0005656 (Positional foot deformity, severe); HP:0001249 (intellectual disability, with severe speech disorder); HP:0001250 (seizures); HP:0000966 (Hypohidrosis); HP:0030507 (retinal crystals); HP:0000613 (photophobia)" "" "" "" "" "" "" "" "" "" "" "" "0000060832" "01003" "00081254" "01596" "Familial, autosomal recessive" "46y" "HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0001264 (Spastic diplegia, severe); Motor disability in arms (mild);\r\nHP:0005656 (Positional foot deformity, moderate); HP:0001249 (intellectual disability, with mild speech disorder); HP:0000966 (Hypohidrosis); HP:0030507 (retinal crystals); HP:0000613 (photophobia)" "" "" "" "" "" "" "" "" "" "" "" "0000060833" "01003" "00081255" "01596" "Familial, autosomal recessive" "45y" "HP:0007503 (Generalized Ichthyosis); HP:0000982 (Palmoplantar keratoderma); HP:0001264 (Spastic diplegia, severe, wheelchair bound); Motor disability in arms (mild);\r\nHP:0005656 (Positional foot deformity, severe); HP:0001249 (intellectual disability, with severe speech disorder); HP:0000966 (Hypohidrosis); HP:0030507 (retinal crystals); HP:0000613 (photophobia)" "" "" "" "" "" "" "" "" "" "" "" "0000060834" "01003" "00081256" "01596" "Familial, autosomal recessive" "45y" "HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0000982 (Palmoplantar keratoderma); HP:0001264 (Spastic diplegia, severe, wheelchair bound); Motor disability in arms (mild);\r\nHP:0005656 (Positional foot deformity, moderate); HP:0001249 (intellectual disability, with mild speech disorder); HP:0000966 (Hypohidrosis); HP:0030507 (retinal crystals); HP:0000613 (photophobia)" "" "" "" "" "" "" "" "" "" "" "" "0000060835" "01003" "00081257" "01596" "Familial, autosomal recessive" "43y" "HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0000982 (Palmoplantar keratoderma); HP:0001264 (Spastic diplegia, severe, wheelchair bound); Motor disability in arms (mild);\r\nHP:0005656 (Positional foot deformity, severe); HP:0001249 (intellectual disability, with severe speech disorder); HP:0030507 (retinal crystals); HP:0000613 (photophobia)" "" "" "" "" "" "" "" "" "" "" "" "0000060836" "01003" "00081258" "01596" "Familial, autosomal recessive" "43y" "HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0001264 (Spastic diplegia, severe, wheelchair bound); Motor disability in arms (mild);\r\nHP:0005656 (Positional foot deformity, severe); HP:0001249 (intellectual disability, with severe speech disorder); HP:0001250 (seizures); HP:0000966 (Hypohidrosis); HP:0030507 (retinal crystals); HP:0000613 (photophobia)" "" "" "" "" "" "" "" "" "" "" "" "0000060837" "01003" "00081259" "01596" "Familial, autosomal recessive" "43y" "HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0001264 (Spastic diplegia, severe, wheelchair bound); Motor disability in arms (mild);\r\nHP:0005656 (Positional foot deformity, severe); HP:0001249 (intellectual disability, with moderate speech disorder); HP:0001250 (seizures); HP:0000966 (Hypohidrosis); HP:0030507 (retinal crystals); HP:0000613 (photophobia)" "" "" "" "" "" "" "" "" "" "" "" "0000060838" "01003" "00081260" "01596" "Familial, autosomal recessive" "40y" "HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0000982 (Palmoplantar keratoderma); HP:0001264 (Spastic diplegia, severe, wheelchair bound); Motor disability in arms (mild);\r\nHP:0005656 (Positional foot deformity, severe); HP:0001249 (intellectual disability, with moderate speech disorder); HP:0000966 (Hypohidrosis); HP:0030507 (retinal crystals); HP:0000613 (photophobia)" "" "" "" "" "" "" "" "" "" "" "" "0000060839" "01003" "00081261" "01596" "Familial, autosomal recessive" "38y" "HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0001264 (Spastic diplegia, severe, wheelchair bound); Motor disability in arms (mild);\r\nHP:0005656 (Positional foot deformity, severe); HP:0001249 (intellectual disability, with severe speech disorder); HP:0001250 (seizures); HP:0030507 (retinal crystals); HP:0000613 (photophobia)" "" "" "" "" "" "" "" "" "" "" "" "0000060840" "01003" "00081262" "01596" "Familial, autosomal recessive" "34y" "HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0001264 (Spastic diplegia, moderate); Motor disability in arms (mild);\r\nHP:0005656 (Positional foot deformity, mild); HP:0001249 (intellectual disability, with moderate speech disorder); HP:0001250 (seizures); HP:0030507 (retinal crystals); HP:0000613 (photophobia)" "" "" "" "" "" "" "" "" "" "" "" "0000060841" "01003" "00081263" "01596" "Familial, autosomal recessive" "30y" "HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0001264 (Spastic diplegia, severe); Motor disability in arms (mild); HP:0001249 (intellectual disability, with mild speech disorder); HP:0000966 (Hypohidrosis); HP:0030507 (retinal crystals); HP:0000613 (photophobia)" "" "" "" "" "" "" "" "" "" "" "" "0000060842" "01003" "00081264" "01596" "Familial, autosomal recessive" "29y" "HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0000982 (Palmoplantar keratoderma); HP:0001264 (Spastic diplegia, severe); Motor disability in arms (mild);\r\nHP:0005656 (Positional foot deformity, moderate); HP:0001249 (intellectual disability, with mild speech disorder); HP:0000966 (Hypohidrosis); HP:0030507 (retinal crystals); HP:0000613 (photophobia)" "" "" "" "" "" "" "" "" "" "" "" "0000060843" "01003" "00081266" "01596" "Familial, autosomal recessive" "28y" "HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0001264 (Spastic diplegia, severe, wheelchair bound); Motor disability in arms (mild);\r\nHP:0005656 (Positional foot deformity, severe); HP:0001249 (intellectual disability, with mild speech disorder); HP:0000966 (Hypohidrosis); HP:0030507 (retinal crystals); HP:0000613 (photophobia)" "" "" "" "" "" "" "" "" "" "" "" "0000060844" "01003" "00081267" "01596" "Familial, autosomal recessive" "26y" "HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0000982 (Palmoplantar keratoderma); HP:0001264 (Spastic diplegia, severe, wheelchair bound); Motor disability in arms (mild);\r\nHP:0005656 (Positional foot deformity, moderate); HP:0001249 (intellectual disability, with severe speech disorder); HP:0001250 (seizures); HP:0000966 (Hypohidrosis); HP:0030507 (retinal crystals); HP:0000613 (photophobia)" "" "" "" "" "" "" "" "" "" "" "" "0000060845" "01003" "00081268" "01596" "Familial, autosomal recessive" "23y" "HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0000982 (Palmoplantar keratoderma); HP:0001264 (Spastic diplegia, moderate); Motor disability in arms (mild);\r\nHP:0005656 (Positional foot deformity, mild); HP:0001249 (intellectual disability, mild, no speech disorder!); HP:0001250 (seizures); HP:0030507 (retinal crystals); HP:0000613 (photophobia)" "" "" "" "" "" "" "" "" "" "" "" "0000060846" "01003" "00081269" "01596" "Familial, autosomal recessive" "17y" "HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0001264 (Spastic diplegia, severe, wheelchair bound); Motor disability in arms (mild);\r\nHP:0005656 (Positional foot deformity, severe); HP:0001249 (intellectual disability, with moderate speech disorder); HP:0000966 (Hypohidrosis); HP:0030507 (retinal crystals); HP:0000613 (photophobia)" "" "" "" "" "" "" "" "" "" "" "" "0000060847" "01003" "00081270" "01596" "Familial, autosomal recessive" "08y" "HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0000982 (Palmoplantar keratoderma); HP:0001264 (Spastic diplegia, severe); Motor disability in arms (mild);\r\nHP:0005656 (Positional foot deformity, moderate); HP:0001249 (intellectual disability, with mild speech disorder); HP:0000966 (Hypohidrosis); HP:0030507 (retinal crystals); HP:0000613 (photophobia)" "" "" "" "" "" "" "" "" "" "" "" "0000060849" "01003" "00081274" "01596" "Familial, autosomal recessive" "12y" "HP:0007503 (Generalized Ichthyosis); HP:0001264 (Spastic diplegia, severe); \r\nHP:0001249 (intellectual disability, mild)" "" "" "" "" "" "" "" "" "" "" "" "0000060850" "01003" "00081275" "01596" "Familial, autosomal recessive" "05y" "HP:0007503 (Generalized Ichthyosis); HP:0001264 (Spastic diplegia, mild); \r\nHP:0001249 (intellectual disability, mild)" "" "" "" "" "" "" "" "" "" "" "" "0000060854" "01003" "00081279" "01596" "Familial, autosomal recessive" "02y" "HP:0007503 (Generalized Ichthyosis); HP:0002510 (Spastic tetraplegia); HP:0001622 (premature birth, 34 weeks);\r\nHP:0001249 (intellectual disability); HP:0001250 (seizures); HP:0030507 (retinal crystals);HP:0007266 (Cerebral dysmyelination, periventricular)" "" "" "" "" "" "" "" "" "" "" "" "0000060855" "01003" "00081280" "01596" "Familial, autosomal recessive" "08y" "HP:0007503 (Generalized Ichthyosis, severe); HP:0000989 (Pruritus, severe); HP:0001249 (intellectual disability, severe); HP:0001264 (Spastic diplegia, severe, wheelchair bound); HP:0006801 (Hyperactive deep tendon reflexes); HP:0001276 (Hypertonia);\r\nHP:0003781 (Excessive salivation)" "" "" "" "" "" "" "" "" "" "" "" "0000060856" "01003" "00081281" "01596" "Familial, autosomal recessive" "06y" "HP:0007503 (Generalized Ichthyosis, severe); HP:0000989 (Pruritus, severe); HP:0001249 (intellectual disability, severe); HP:0001264 (Spastic diplegia, severe, wheelchair bound); HP:0006801 (Hyperactive deep tendon reflexes); HP:0001276 (Hypertonia);\r\nHP:0003781 (Excessive salivation)" "" "" "" "" "" "" "" "" "" "" "" "0000060857" "01003" "00081282" "01596" "Familial, autosomal recessive" "04y" "HP:0007503 (Generalized Ichthyosis, moderate); HP:0000989 (Pruritus, moderate); HP:0001249 (intellectual disability, moderate); HP:0002385 (paraparesis, ambulatory with support); HP:0006801 (Hyperactive deep tendon reflexes); HP:0001276 (Hypertonia)" "" "" "" "" "" "" "" "" "" "" "" "0000060858" "01003" "00081283" "01596" "Familial, autosomal recessive" "25y" "HP:0007503 (Generalized Ichthyosis, moderate); HP:0001249 (intellectual disability, severe); HP:0001264 (Spastic diplegia, severe, wheelchair bound); HP:0006801 (Hyperactive deep tendon reflexes); HP:0001276 (Hypertonia);\r\nHP:0030507 (retinal crystals); HP:0000613 (photophobia)" "" "" "" "" "" "" "" "" "" "" "" "0000060859" "01003" "00081284" "01596" "Familial, autosomal recessive" "10y" "HP:0007503 (Generalized Ichthyosis, moderate); HP:0001249 (intellectual disability, moderate); HP:0001264 (Spastic diplegia, severe, wheelchair bound); HP:0006801 (Hyperactive deep tendon reflexes); HP:0001276 (Hypertonia);\r\nHP:0000613 (photophobia)" "" "" "" "" "" "" "" "" "" "" "" "0000060860" "01003" "00081285" "01596" "Familial, autosomal recessive" "14y" "HP:0007503 (Generalized Ichthyosis, moderate); HP:0000989 (Pruritus); HP:0001249 (intellectual disability, severe); HP:0001264 (Spastic diplegia, severe, wheelchair bound); HP:0006801 (Hyperactive deep tendon reflexes); HP:0001276 (Hypertonia);\r\nHP:0000613 (photophobia)" "" "" "" "" "" "" "" "" "" "" "" "0000060861" "01003" "00081286" "01596" "Familial, autosomal recessive" "30y" "HP:0007503 (Generalized Ichthyosis, severe); HP:0000989 (Pruritus); HP:0001249 (intellectual disability, moderate); HP:0002385 (paraparesis, ambulatory with support); HP:0006801 (Hyperactive deep tendon reflexes); HP:0001276 (Hypertonia); HP:0000613 (photophobia); HP:0007663 (Reduced visual acuity); HP:0000821 (Hypothyroidism)" "" "" "" "" "" "" "" "" "" "" "" "0000060862" "01003" "00081287" "01596" "Familial, autosomal recessive" "28y" "HP:0007503 (Generalized Ichthyosis, moderate); HP:0001249 (intellectual disability, severe); HP:0001264 (Spastic diplegia, severe, wheelchair bound); HP:0006801 (Hyperactive deep tendon reflexes); HP:0001276 (Hypertonia); HP:0000613 (photophobia); HP:0007663 (Reduced visual acuity); HP:0000821 (Hypothyroidism)" "" "" "" "" "" "" "" "" "" "" "" "0000060863" "01003" "00081288" "01596" "Familial, autosomal recessive" "21y" "HP:0007503 (Generalized Ichthyosis, moderate); HP:0000989 (Pruritus); HP:0001249 (intellectual disability, moderate); HP:0001264 (Spastic diplegia, severe, wheelchair bound); HP:0006801 (Hyperactive deep tendon reflexes); HP:0001276 (Hypertonia);\r\nHP:0030507 (retinal crystals); HP:0000613 (photophobia)" "" "" "" "" "" "" "" "" "" "" "" "0000060864" "01003" "00081292" "01596" "Familial, autosomal recessive" "16y" "HP:0007503 (Generalized Ichthyosis,\r\nExtremities: severe,\r\nTrunk: severe\r\nFace: mild);\r\nHP:0002313 (Spastic paraparesis, moderate, moderate gait abnormality);\r\nHP:0005750 (Contractures of the joints of the lower limbs, mild)\r\nHP:0001249 (intellectual disability, mild); HP:0001260 (Dysarthria, mild); \r\nHP:0007663 (Reduced visual acuity, right: 6/12, left: 6/18); \r\nHP:0030507 (retinal crystals); \r\nHP:0000551 (Abnormality of color vision, mild); \r\nHP:0007266 (Cerebral dysmyelination, moderate, frontal, parietal and periventricular); \r\nH-MRS lipid peak at 1.3 ppm (Lipid/Creatine-Ratio: 1.3)" "" "" "" "" "" "" "" "" "" "" "" "0000060865" "01003" "00081293" "01596" "Familial, autosomal recessive" "19y" "HP:0007503 (Generalized Ichthyosis,\r\nExtremities: severe,\r\nTrunk: severe);\r\nHP:0002313 (Spastic paraparesis, moderate, moderate gait abnormality);\r\nHP:0005750 (Contractures of the joints of the lower limbs, moderate)\r\nHP:0001249 (intellectual disability, mild); HP:0001260 (Dysarthria, mild); \r\nHP:0007663 (Reduced visual acuity, right: 6/36, left: 6/18); \r\nHP:0030507 (retinal crystals); \r\nHP:0000551 (Abnormality of color vision, moderate)" "" "" "" "" "" "" "" "" "" "" "" "0000060866" "01003" "00081294" "01596" "Familial, autosomal recessive" "24y" "HP:0007503 (Generalized Ichthyosis,\r\nExtremities: moderate,\r\nTrunk: moderate,\r\nFace: mild);\r\nHP:0002313 (Spastic paraparesis, severe, marked gait disturbance);\r\nHP:0005750 (Contractures of the joints of the lower limbs, moderate)\r\nHP:0001249 (intellectual disability, mild); HP:0001260 (Dysarthria, mild); \r\nHP:0007663 (Reduced visual acuity, right: 6/36, left: 6/36); \r\nHP:0030507 (retinal crystals); \r\nHP:0007266 (Cerebral dysmyelination, mild, frontal, occipital and periventricular); \r\nH-MRS lipid peak at 1.3 ppm (Lipid/Creatine-Ratio: 1.2)" "" "" "" "" "" "" "" "" "" "" "" "0000060867" "01003" "00081295" "01596" "Familial, autosomal recessive" "33y" "HP:0007503 (Generalized Ichthyosis,\r\nExtremities: moderate,\r\nTrunk: severe\r\nFace: mild);\r\nHP:0002313 (Spastic paraparesis, severe, marked gait disturbance, wheelchair);\r\nHP:0005750 (Contractures of the joints of the lower limbs, moderate)\r\nHP:0001249 (intellectual disability, mild); HP:0001260 (Dysarthria, mild); \r\nHP:0007663 (Reduced visual acuity, right: 6/18, left: 6/24); \r\nHP:0030507 (retinal crystals); \r\nHP:0000551 (Abnormality of color vision, mild); \r\nHP:0007266 (Cerebral dysmyelination, severe, frontal, parietal, temporal, occipital and periventricular); \r\nH-MRS lipid peak at 1.3 ppm (Lipid/Creatine-Ratio: 0.7)" "" "" "" "" "" "" "" "" "" "" "" "0000060868" "01003" "00081296" "01596" "Familial, autosomal recessive" "34y" "HP:0007503 (Generalized Ichthyosis,\r\nExtremities: severe,\r\nTrunk: severe);\r\nHP:0002313 (Spastic paraparesis, severe, marked gait disturbance);\r\nHP:0005750 (Contractures of the joints of the lower limbs, moderate)\r\nHP:0001249 (intellectual disability, mild); HP:0001260 (Dysarthria, mild); \r\nHP:0007663 (Reduced visual acuity, right: 6/18, left: 6/36); \r\nHP:0030507 (retinal crystals)" "" "" "" "" "" "" "" "" "" "" "" "0000060869" "01003" "00081297" "01596" "Familial, autosomal recessive" "36y" "HP:0007503 (Generalized Ichthyosis,\r\nExtremities: moderate,\r\nTrunk: mild,\r\nFace: mild);\r\nHP:0002313 (Spastic paraparesis, moderate, moderate gait abnormality);\r\nHP:0005750 (Contractures of the joints of the lower limbs, moderate)\r\nHP:0001249 (intellectual disability, mild); HP:0001260 (Dysarthria, mild); \r\nHP:0007663 (Reduced visual acuity, left: 6/36); \r\nHP:0030507 (retinal crystals, severe); \r\nHP:0000551 (Abnormality of color vision, moderate); \r\nHP:0007266 (Cerebral dysmyelination, moderate, frontal, occipital and periventricular); \r\nH-MRS lipid peak at 1.3 ppm (Lipid/Creatine-Ratio: 0.5)" "" "" "" "" "" "" "" "" "" "" "" "0000060871" "01003" "00081298" "01596" "Familial, autosomal recessive" "06y" "HP:0007503 (Generalized Ichthyosis); HP:0001249 (intellectual disability); HP:0002313 (Spastic paraparesis); HP:0001276 (Hypertonia, lower limbs);\r\nHP:0007266 (Cerebral dysmyelination, post angular area of left parietal lobe)" "" "" "" "" "" "" "" "" "" "" "" "0000060872" "01003" "00081299" "01596" "Familial, autosomal recessive" "01y" "HP:0007503 (Generalized Ichthyosis, brown-colored pigmentation); HP:0001249 (intellectual disability); HP:0002313 (Spastic paraparesis)" "" "" "" "" "" "" "" "" "" "" "" "0000060873" "01003" "00081300" "01596" "Familial, autosomal recessive" "04y" "HP:0007503 (Generalized Ichthyosis); HP:0001264 (Spastic diplegia, ambulatory); \r\nHP:0001249 (intellectual disability, mild)" "" "" "" "" "" "" "" "" "" "" "" "0000060874" "01003" "00081301" "01596" "Familial, autosomal recessive" "01y03m" "HP:0007503 (Generalized Ichthyosis, collodion membrane at birth); \r\nHP:0001264 (Spastic diplegia, non-ambulatory); \r\nHP:0001249 (intellectual disability)" "" "" "" "" "" "" "" "" "" "" "" "0000060875" "01003" "00081302" "01596" "Familial, autosomal recessive" "02y" "HP:0007503 (Generalized Ichthyosis); HP:0001264 (Spastic diplegia); \r\nHP:0001249 (intellectual disability)" "" "" "" "" "" "" "" "" "" "" "" "0000060876" "01003" "00081303" "01596" "Familial, autosomal recessive" "02y06m" "HP:0007503 (Generalized Ichthyosis); HP:0001264 (Spastic diplegia, non-ambulatory); \r\nHP:0001249 (intellectual disability, moderate)" "" "" "" "" "" "" "" "" "" "" "" "0000060877" "01003" "00081304" "01596" "Familial, autosomal recessive" "02y06m" "HP:0007503 (Generalized Ichthyosis); HP:0001264 (Spastic diplegia, non-ambulatory); \r\nHP:0001249 (intellectual disability, mild)" "" "" "" "" "" "" "" "" "" "" "" "0000060878" "01003" "00081305" "01596" "Familial, autosomal recessive" "05y" "HP:0007503 (Generalized Ichthyosis); HP:0001264 (Spastic diplegia, ambulatory); \r\nHP:0001249 (intellectual disability, moderate)" "" "" "" "" "" "" "" "" "" "" "" "0000060879" "01003" "00081306" "01596" "Familial, autosomal recessive" "28y" "HP:0007503 (Generalized Ichthyosis); HP:0001264 (Spastic diplegia, ambulatory); \r\nHP:0001249 (intellectual disability)" "" "" "" "" "" "" "" "" "" "" "" "0000060880" "01003" "00081307" "01596" "Familial, autosomal recessive" "" "fetus!\r\nno phenotype information available" "" "" "" "" "" "" "" "" "" "" "" "0000060881" "01003" "00081309" "01596" "Familial, autosomal recessive" "04y" "HP:0007503 (Generalized Ichthyosis); HP:0001264 (Spastic diplegia); \r\nHP:0001249 (intellectual disability)" "" "" "" "" "" "" "" "" "" "" "" "0000060882" "01003" "00081310" "01596" "Familial, autosomal recessive" "" "fetus!\r\nno phenotype information available" "" "" "" "" "" "" "" "" "" "" "" "0000060883" "01003" "00081311" "01596" "Familial, autosomal recessive" "14y" "HP:0007503 (Generalized Ichthyosis); HP:0001264 (Spastic diplegia); \r\nHP:0001249 (intellectual disability, moderate)" "" "" "" "" "" "" "" "" "" "" "" "0000060885" "01003" "00081313" "01596" "Familial, autosomal recessive" "08y" "HP:0007503 (Generalized Ichthyosis, severe); \r\nHP:0007325 (Generalized dystonia, severe); HP:0001257 (Spasticity, severe, with \"twisting spasms\");\r\nHP:0008936 (Muscular hypotonia of the trunk, severe);\r\nHP:0001347 (Hyperreflexia, both lower limbs and right arm);\r\nHP:0002312 (Clumsiness);\r\nHP:0000369 (low-set ears);\r\nHP:0012758 (Neurodevelopmental delay, severe);\r\nHP:0001249 (intellectual disability, severe); HP:0001622 (premature birth, 36 weeks); HP:0007305 (CNS demyelination, frontal, parietal, occipital, periventricular)" "" "" "" "" "" "" "" "" "" "" "" "0000060886" "01003" "00081315" "01596" "Familial, autosomal recessive" "01y" "HP:0007503 (Generalized Ichthyosis); HP:0002510 (Spastic tetraplegia); HP:0001249 (intellectual disability)" "" "" "" "" "" "" "" "" "" "" "" "0000068273" "01003" "00088870" "01596" "Familial, autosomal recessive" "?" "HP:0007503 (Generalized Ichthyosis); HP:0001249 (intellectual disability); HP:0001264 (spastic diplegia, or tetraplegia: paper not precise); HP:0030507 (retinal crystals, probably: paper not precise)" "" "" "" "" "" "" "" "" "" "" "" "0000068346" "01003" "00088943" "01596" "Familial, autosomal recessive" "?" "HP:0007503 (Generalized Ichthyosis); HP:0001249 (intellectual disability); HP:0001264 (spastic diplegia, or tetraplegia: paper not precise); HP:0030507 (retinal crystals, probably: paper not precise)" "" "" "" "" "" "" "" "" "" "" "" "0000068347" "01003" "00088944" "01596" "Familial, autosomal recessive" "?" "HP:0007503 (Generalized Ichthyosis); HP:0001249 (intellectual disability); HP:0001264 (spastic diplegia, or tetraplegia: paper not precise); HP:0030507 (retinal crystals, probably: paper not precise)" "" "" "" "" "" "" "" "" "" "" "" "0000068348" "01003" "00088945" "01596" "Familial, autosomal recessive" "?" "HP:0007503 (Generalized Ichthyosis); HP:0001249 (intellectual disability); HP:0001264 (spastic diplegia, or tetraplegia: paper not precise); HP:0030507 (retinal crystals, probably: paper not precise)" "" "" "" "" "" "" "" "" "" "" "" "0000068349" "01003" "00088946" "01596" "Familial, autosomal recessive" "?" "HP:0007503 (Generalized Ichthyosis); HP:0001249 (intellectual disability); HP:0001264 (spastic diplegia, or tetraplegia: paper not precise); HP:0030507 (retinal crystals, probably: paper not precise)" "" "" "" "" "" "" "" "" "" "" "" "0000068350" "01003" "00088947" "01596" "Familial, autosomal recessive" "?" "HP:0007503 (Generalized Ichthyosis); HP:0001249 (intellectual disability); HP:0001264 (spastic diplegia, or tetraplegia: paper not precise); HP:0030507 (retinal crystals, probably: paper not precise)" "" "" "" "" "" "" "" "" "" "" "" "0000068351" "01003" "00088948" "01596" "Familial, autosomal recessive" "?" "HP:0007503 (Generalized Ichthyosis); HP:0001249 (intellectual disability); HP:0001264 (spastic diplegia, or tetraplegia: paper not precise); HP:0030507 (retinal crystals, probably: paper not precise)" "" "" "" "" "" "" "" "" "" "" "" "0000068352" "01003" "00088949" "01596" "Familial, autosomal recessive" "?" "HP:0007503 (Generalized Ichthyosis); HP:0001249 (intellectual disability); HP:0001264 (spastic diplegia, or tetraplegia: paper not precise); HP:0030507 (retinal crystals, probably: paper not precise)" "" "" "" "" "" "" "" "" "" "" "" "0000068357" "01003" "00088951" "01596" "Familial, autosomal recessive" "00y11m" "HP:0007503 (Generalized Ichthyosis, prominent on extremities and abdomen); HP:0001263 (Global developmental delay); HP:0006986 (upper limb spasticity, left)" "" "" "" "" "" "" "" "" "" "" "" "0000068358" "01003" "00088954" "01596" "Familial, autosomal recessive" "02y06m" "HP:0007503 (Generalized Ichthyosis); HP:0001249 (intellectual disability, severe); HP:0001622 (premature birth, 30 weeks); HP:0011448 (ankle Clonus); HP:0007266 (Cerebral dysmyelination,periventricular); HP:0002023 (anal atresia); HP:0000089 (renal hypoplasia, left); HP:0000047 (hypospadia); HP:0001629 (ventricular septal defect)" "" "" "" "" "" "" "" "" "" "" "" "0000068359" "01003" "00088955" "01596" "Familial, autosomal recessive" "01y06m" "HP:0007503 (Generalized Ichthyosis); HP:0001249 (intellectual disability); HP:0011448 (ankle Clonus, both lower extremities)" "" "" "" "" "" "" "" "" "" "" "" "0000068417" "01003" "00089013" "01596" "Familial, autosomal recessive" "29y" "HP:0007503 (Generalized Ichthyosis); HP:0001249 (intellectual disability); HP:0001257 (spasticity, wheelchair-bound); HP:0030507 (retinal crystals, \"white dots\"); HP:0007663 (reduced visual acuity,right: 20/80, left: 20/60)" "" "" "" "" "" "" "" "" "" "" "" "0000068418" "01003" "00089014" "01596" "Familial, autosomal recessive" "28y" "HP:0007503 (Generalized Ichthyosis); HP:0001249 (intellectual disability); HP:0001257 (spasticity, wheelchair-bound); HP:0030507 (retinal crystals, \"white dots\"); HP:0007663 (reduced visual acuity,right: 20/60, left: 20/80)" "" "" "" "" "" "" "" "" "" "" "" "0000068419" "01003" "00089015" "01596" "Familial, autosomal recessive" "03y06m" "HP:0007503 (Generalized Ichthyosis); HP:0001249 (intellectual disability);\r\nHP:0002510 (Spastic tetraplegia);\r\n HP:0030507 (retinal crystals, \"white dots\"); HP:0001250 (seizures); HP:0002751 (kyphoscoliosis); HP:0000316 (hypertelorism); HP:0001622 (premature birth, 36 weeks)" "" "" "" "" "" "" "" "" "" "" "" "0000068426" "01003" "00089024" "01596" "Familial, autosomal recessive" "26y" "HP:0007503 (Generalized Ichthyosis); HP:0001257 (Spasticity); HP:0001249 (intellectual disability); HP:0030507 (retinal crystals); HP:0000613 (photophobia); HP:0007663 (reduced visual acuity, 20/25 OU); HP:0000509 (conjunctivitis, and blepharitis)" "" "" "" "" "" "" "" "" "" "" "" "0000068489" "01003" "00079917" "01596" "Familial, autosomal recessive" "" "HP:0007503 (Generalized Ichthyosis, severe)" "" "" "" "" "" "" "" "" "" "" "" "0000072397" "01003" "00094006" "01596" "Familial, autosomal recessive" "" "HP:0007503 (Generalized Ichthyosis);\r\nHP:0001263 (Global developmental delay);\r\nHP:0001622 (premature birth, 34 weeks);\r\nHP:0040187 (neonatal sepsis);\r\nHP:0001250 (seizures);\r\nHP:0000613 (photophobia);\r\nHP:0001257 (spasticity, generalized, bed-bound since his 6th year of age);\r\nHP:0007266 (Cerebral dysmyelination);\r\ncharacteristic prominent MRS lipid peaks" "" "" "" "" "" "" "" "" "" "" "" "0000072411" "01003" "00094019" "01596" "Familial, autosomal recessive" "05y" "HP:0007503 (Generalized Ichthyosis); HP:0001257 (Spasticity); \r\nHP:0001249 (intellectual disability)" "" "" "" "" "" "" "" "" "" "" "" "0000072412" "01003" "00094020" "01596" "Familial, autosomal recessive" "28y" "HP:0007503 (Generalized Ichthyosis); HP:0001257 (Spasticity); \r\nHP:0001249 (intellectual disability)" "" "" "" "" "" "" "" "" "" "" "" "0000078625" "01003" "00100433" "01596" "Familial, autosomal recessive" "02y" "HP:0007503 (Generalized Ichthyosis); HP:0001249 (intellectual disability, mild); HP:0001264 (Spastic diplegia)" "" "" "" "" "" "" "" "" "" "" "" "0000078626" "01003" "00100434" "01596" "Familial, autosomal recessive" "04y06m" "HP:0007503 (Generalized Ichthyosis); HP:0001249 (intellectual disability, mild); HP:0001264 (Spastic diplegia)" "" "" "" "" "" "" "" "" "" "" "" "0000078627" "01003" "00100435" "01596" "Familial, autosomal recessive" "09y" "HP:0007503 (Generalized Ichthyosis); HP:0001249 (intellectual disability, mild); HP:0001264 (Spastic diplegia)" "" "" "" "" "" "" "" "" "" "" "" "0000080284" "00139" "00102100" "01864" "Isolated (sporadic)" "" "HP:0008064; HP:0002352; HP:0002061; HP:0001371; intellectual disability (HP:0001249)" "" "" "" "" "" "" "" "" "" "" "" "0000085789" "01003" "00108195" "01596" "Familial, autosomal recessive" "02y" "HP:0007503 (Generalized Ichthyosis,);\r\nHP:0001264 (Spastic diplegia); \r\nHP:0011400 (abnormal CNS myelination, periventricular);\r\nHP:0001270 (Motor delay);\r\nHP:0002099 (Asthma);\r\nHP:0002090 (Pneumonia,2 episodes in 1st year of life)" "" "" "" "" "" "" "" "" "" "" "" "0000087082" "01003" "00110426" "01596" "Familial, autosomal recessive" "00y06m" "HP:0007503 (Generalized Ichthyosis); HP:0000989 (Pruritus); HP:0001257 (Spasticity, incipient, lower limbs);\r\nHP:0000256 (Macrocephaly); \r\nHP:0001263 (Global developmental delay, mild, psychomotor retardation); HP:0001622 (premature birth, 33 weeks);\r\nHP:0008936 (axial hypotonia)" "" "" "" "" "" "" "" "" "" "" "" "0000087163" "01003" "00110535" "01596" "Familial, autosomal recessive" "06y" "HP:0007503 (Generalized Ichthyosis); HP:0001264 (Spastic diplegia);\r\nHP:0001263 (Global developmental delay, esp. motor function and language);\r\nHP:0006801(hyperact. deep tendon refl.);\r\npatient suffers also from AID deficiency!" "" "" "" "" "" "" "" "" "" "" "" "0000087463" "01003" "00111378" "01596" "Familial, autosomal recessive" "07y" "HP:0007503 (Generalized Ichthyosis); HP:0001264 (Spastic diplegia)" "" "" "" "" "" "" "" "" "" "" "" "0000089038" "01003" "00113556" "01596" "Familial, autosomal recessive" "05y" "HP:0007503 (Generalized Ichthyosis); HP:0001249 (intellectual disability); HP:0002313(Spastic paraparesis); HP:0007024 (Pseudobulbar palsy/dysarthria); HP:0007266 (cerebral dysmyelination, periventricular);\r\nHP:0008936 (axial hypotonia); characteristic MRS lipid peak" "" "" "" "" "" "" "" "" "" "" "" "0000089039" "01003" "00113557" "01596" "Familial, autosomal recessive" "19y" "HP:0007503 (Generalized Ichthyosis); HP:0001249 (intellectual disability); HP:0002313(Spastic paraparesis); HP:0007024 (Pseudobulbar palsy/dysarthria); HP:0007266 (cerebral dysmyelination, periventricular); HP:0003083 (dislocated radial head, bilateral); characteristic MRS lipid peak" "" "" "" "" "" "" "" "" "" "" "" "0000089040" "01003" "00113558" "01596" "Familial, autosomal recessive" "07y" "HP:0007503 (Generalized Ichthyosis); HP:0001264 (Spastic diplegia); HP:0000989 (Pruritus); HP:0001622 (premature birth, 34 weeks); HP:0001249 (intellectual disability); HP:0000613 (photophobia); HP:0007305 (CNS demyelination, periventricular, genu and selenium of corpus callosum); HP:0000486 (strabismus); HP:0031064 (impaired continence); HP:0007663 (reduced visual acuity);\r\nHP:0001347(hyperrefelxia); high lipid peak in MRS" "" "" "" "" "" "" "" "" "" "" "" "0000117164" "01003" "00144394" "01596" "Familial, autosomal recessive" "04y" "HP:0007503 (Generalized Ichthyosis, whole body); HP:0000989 (Pruritus);\r\nHP:0001264 (Spastic diplegia, with scissoring gait and hyperactive deep tendon reflexes);\r\nHP:0001250 (seizures, with abnormal EEG);\r\nHP:0007266 (Cerebral dysmyelination, periventricular, centrum ovale);\r\nHP:0001249 (intellectual disability)" "" "" "" "" "" "" "" "" "" "" "" "0000117206" "01003" "00144438" "01596" "Familial, autosomal recessive" "03y" "HP:0007503 (Generalized Ichthyosis, face, neck, palms, soles, trunk and back);\r\nHP:0001258 (spastic paraplegia);\r\nHP:0001347 (Hyperreflexia);\r\nHP:0000613 (photophobia);\r\nHP:0001250 (seizures);\r\nHP:0001249 (intellectual disability, moderate);\r\nHP:0000252 (microcephaly);" "" "" "" "" "" "" "" "" "" "" "" "0000117210" "00877" "00144443" "01596" "Familial, autosomal recessive" "03y" "HP:0007503 (Generalized Ichthyosis);\r\nHP:0001264 (spastic diplegia);\r\nHP:0001249 (intellectual disability);\r\nHP:0000613 (photophobia);\r\nHP:0001622 (premature birth, 32 weeks);\r\nHP:0001347 (Hyperreflexia)" "" "" "" "" "" "" "" "" "" "" "" "0000117211" "01003" "00144444" "01596" "Familial, autosomal recessive" "09y" "HP:0007503 (Generalized Ichthyosis);\r\nHP:0001264 (spastic diplegia, can not sit without support);\r\nHP:0001347 (Hyperreflexia);\r\nHP:0001249 (intellectual disability, profound, no speech at 9 years);\r\nHP:0000613 (photophobia);\r\nHP:0030507 (retinal crystals);\r\nHP:0001622 (premature birth, 36 weeks);\r\nHP:0001250 (seizures, severe, abnormal EEG);\r\nHP:0007266 (Cerebral dysmyelination, periventricular);\r\nHP:0000520 (proptosis);\r\nHP:0000508 (ptosis);\r\nHP:0000280 (coarse facies)" "" "" "" "" "" "" "" "" "" "" "" "0000117213" "01003" "00144446" "01596" "Familial, autosomal recessive" "03y" "HP:0007503 (Generalized Ichthyosis);\r\nHP:0001264 (spastic diplegia);\r\nHP:0001249 (intellectual disability, moderate);\r\nHP:0000613 (photophobia);\r\nHP:0002808 (kyphosis);\r\nHP:0000486 (strabismus)" "" "" "" "" "" "" "" "" "" "" "" "0000117220" "01003" "00144453" "01596" "Familial, autosomal recessive" "01y03m" "HP:0007503 (Generalized Ichthyosis);\r\nHP:0001264 (spastic diplegia);\r\nHP:0001263 (global developmental delay)" "" "" "" "" "" "" "" "" "" "" "" "0000117221" "01003" "00144454" "01596" "Familial, autosomal recessive" "11y" "HP:0007503 (Generalized Ichthyosis);\r\nHP:0001258 (spastic paraplegia);\r\nHP:0001249 (intellectual disability, moderate);\r\nHP:0002751 (kyphoscoliosis);\r\nHP:0001374 (congenital hip dislocation);\r\nHP:0001347 (Hyperreflexia)" "" "" "" "" "" "" "" "" "" "" "" "0000117369" "01003" "00144632" "01596" "Familial, autosomal recessive" "07y" "HP:0007503 (Generalized Ichthyosis, face spared);\r\nHP:0000989 (Pruritus, only when sweating or febrile)\r\nHP:0001264 (spastic diplegia); HP:0001249 (intellectual disability)\r\nHP:0030507 (retinal crystals);\r\nHP:0001622 (premature birth, 35 weeks);\r\nHP:0007266 (Cerebral dysmyelination, periventricular);\r\nHP:0012444 (brain atrophy, mild, frontal lobes);\r\nHP:0001347 (Hyperreflexia)" "" "" "" "" "" "" "" "" "" "" "" "0000117370" "01003" "00144633" "01596" "Familial, autosomal recessive" "03y" "HP:0007503 (Generalized Ichthyosis);\r\nHP:0001264 (spastic diplegia, Babinsky positive);\r\nHP:0007266 (Cerebral dysmyelination, frontal lobes, centrum semiovale, post.parietal lobes, corpus callosum);\r\nHP:0010605 (recurrent chalazia);\r\nHP:0001347 (Hyperreflexia);\r\nMRS increased lipid and myoinositol levels" "" "" "" "" "" "" "" "" "" "" "" "0000129471" "01003" "00164368" "01596" "Familial, autosomal recessive" "16y" "HP:0002313 (spastic paraparesis, wheelchair);\r\nHP:0006801 (hyperactive deep tendon Reflexes);\r\nHP:0007503 (Gen. Ichthyosis);\r\nHP:0001249 (intell. dis.);\r\nHP:0000767 (pectus excavatum);\r\nHP:0002751 (kyphoscoliosis);\r\nHP:0011400 (abn. CNS myelin.)" "" "" "" "" "" "" "" "" "" "" "" "0000129472" "01003" "00164369" "01596" "Familial, autosomal recessive" "08y" "HP:0002313 (spastic paraparesis);\r\nHP:0006801 (hyperactive deep tendon Reflexes);\r\nHP:0007503 (Gen. Ichthyosis);\r\nHP:0001249 (intell. dis.);\r\nHP:0000767 (pectus excavatum);\r\nHP:0002751 (kyphoscoliosis);" "" "" "" "" "" "" "" "" "" "" "" "0000129473" "01003" "00164370" "01596" "Familial, autosomal recessive" "03y" "HP:0002313 (spastic paraparesis);\r\nHP:0006801 (hyperactive deep tendon Reflexes);\r\nHP:0007503 (Gen. Ichthyosis);\r\nHP:0001249 (intell. dis.);\r\nHP:0001763 (pes planus);\r\nHP:0001999 (facial dysmorphism)" "" "" "" "" "" "" "" "" "" "" "" "0000129474" "01003" "00164371" "01596" "Familial, autosomal recessive" "09y" "HP:0002313 (spastic paraparesis)HP:0006801 (hyperactive deep tendon reflexes);\r\nHP:0007503 (Gen. Ichthyosis);\r\nHP:0001249 (intell. dis.);\r\nHP:0000768 (pectus carintatum);\r\nHP:0002751 (kyphoscoliosis);\r\nHP:0001250 (seiz.)" "" "" "" "" "" "" "" "" "" "" "" "0000129475" "01003" "00164372" "01596" "Familial, autosomal recessive" "02y" "HP:0002313 (spastic paraparesis, \"can\'t walk\");\r\nHP:0006801 (hyperactive deep tendon Reflexes);\r\nHP:0007503 (Gen. Ichthyosis);\r\nHP:0001249 (intell. dis.);\r\nHP:0006297 (dental hypoplasia);\r\nHP:0001999 (facial dysmorphism);\r\nHP:0011400 (abn. CNS myelin.)" "" "" "" "" "" "" "" "" "" "" "" "0000129476" "01003" "00164373" "01596" "Familial, autosomal recessive" "18y" "HP:0002313 (spastic paraparesis, wheelchair);\r\nHP:0006801 (hyperactive deep tendon Reflexes);\r\nHP:0007503 (Gen. Ichthyosis);\r\nHP:0001249 (intell. dis.);\r\nHP:0002751 (kyphoscoliosis);\r\nHP:0001622 (pre. birth, 32w)" "" "" "" "" "" "" "" "" "" "" "" "0000129477" "01003" "00164374" "01596" "Familial, autosomal recessive" "09y" "HP:0002313 (spastic paraparesis)\r\nHP:0006801 (hyperactive deep tendon Reflexes);\r\nHP:0007503 (Gen. Ichthyosis);\r\nHP:0001249 (intell. dis.);\r\nHP:0002751 (kyphoscoliosis);\r\nHP:0001622 (pre. birth, 32w)" "" "" "" "" "" "" "" "" "" "" "" "0000129494" "01003" "00164457" "01596" "Familial, autosomal recessive" "28y" "HP:0007503 (Gen. Ichth.)\r\nHP:0001257 (Spastic., severe)\r\nHP:0001249 (intell. dis., severe)\r\nHP:0011400 (abn. CNS myelin.)\r\nHP:0012444 (brain atrophy)\r\nMRS Lipid peak" "" "" "" "" "" "" "" "" "" "" "" "0000141904" "01003" "00179418" "01596" "Familial, autosomal recessive" "02y06m?" "HP:0007503 (Gen. Ichthyosis, neck, trunk, extremities);\r\nHP:0001263 (Global developmental delay, early, particularly speech, language and motor milestones);\r\nHP:0001264 (Spastic diplegia, did not walk until 2,5 years, thereafter with difficulty)" "" "" "" "" "" "" "" "" "" "" "" "0000141905" "01003" "00179419" "01596" "Familial, autosomal recessive" "01y?" "HP:0007503 (Gen. Ichthyosis, neck, trunk, extremities);\r\nHP:0001263 (Global developmental delay, early, particularly speech, language and motor milestones);\r\nHP:0001264 (Spastic diplegia, did not sit until 12 month, cannot stand independently)" "" "" "" "" "" "" "" "" "" "" "" "0000141906" "01003" "00179420" "01596" "Familial, autosomal recessive" "<01y?" "HP:0007503 (Gen. Ichthyosis, neck, trunk, extremities);\r\nHP:0001263 (Global developmental delay, early, particularly speech, language and motor milestones);\r\nHP:0001264 (Spastic diplegia, unable to stand and sit at time of examination, age unknown but probably very young child)" "" "" "" "" "" "" "" "" "" "" "" "0000141941" "01003" "00179454" "01596" "Familial, autosomal recessive" ">40y" "HP:0007503 (Gen. Ichthyosis);\r\nHP:0007431 (Congenital ichthyosiform erythroderma);\r\nHP:0000989 (Pruritus);\r\nHP:0001257 (Spasticity, wheelchair bound);\r\nHP:0001347 (Hyperreflexia);\r\nHP:0002283 (Global brain atrophy);\r\nHP:0001249 (intell. dis., severe);\r\nHP:0001260 (Dysarthria);\r\nHP:0006956 (Dilation of lateral ventricles, right side);\r\nHP:0006970 (Periventricular leukomalacia, probably should be CNS demyelination?);\r\nHP:0006931 (Lipoma of corpus callosum);\r\nHP:0001622 (premature birth);\r\nHP:0001760 (Abnormality of the foot)" "" "" "" "" "" "" "" "" "" "" "" "0000141943" "01003" "00179456" "01596" "Familial, autosomal recessive" "?" "HP:0007503 (Gen. Ichthyosis, with \"collodion membrane\");\r\nHP:0007431 (Congenital ichthyosiform erythroderma);\r\nHP:0000989 (Pruritus);\r\nHP:0001257 (Spasticity);\r\nHP:0001336 (Myoclonus);\r\nHP:0001347 (Hyperreflexia)\r\nHP:0001263 (Global developmental delay);\r\nHP:0000750 (Delayed speech and language development)\r\nHP:0001249 (intell. dis., moderate);\r\nHP:0001260 (Dysarthria);\r\nHP:0001622 (premature birth);\r\nHP:0030507 (retinal crystals);\r\nHP:0007663 (Reduced visual acuity);\r\nHP:0001760 (Abnormality of the foot)\r\nmild generalized EEG bradyrhythmia" "" "" "" "" "" "" "" "" "" "" "" "0000141944" "01003" "00179458" "01596" "Familial, autosomal recessive" "?" "HP:0007503 (Gen. Ichthyosis);\r\nHP:0007431 (Congenital ichthyosiform erythroderma);\r\nHP:0000989 (Pruritus);\r\nHP:0001249 (intell. dis., moderate);\r\nHP:0000750 (Delayed speech and language development);\r\nHP:0001347 (Hyperreflexia);\r\nHP:0001257 (Spasticity, unable to walk unaided);\r\nHP:0030507 (retinal crystals);\r\nHP:0002188 (Delayed CNS myelination)" "" "" "" "" "" "" "" "" "" "" "" "0000141996" "01003" "00179510" "01596" "Familial, autosomal recessive" "02y06m" "HP:0007503 (Gen. Ichthyosis);\r\nHP:0000989 (Pruritus);\r\nHP:0012758 (neurodevelopmental delay);\r\nHP:0001264 (Spastic diplegia, legs);\r\nHP:0001622 (Premat. birth, week 35);\r\nHP:0011400 (abn. CNS myelin.);\r\nabnormal peak in proton spectroscopy" "" "" "" "" "" "" "" "" "" "" "" "0000141997" "01003" "00179512" "01596" "Familial, autosomal recessive" "04y" "HP:0007503 (Gen. Ichthyosis);\r\nHP:0002510 (Spastic quadriplegia/tetraplegia);\r\nHP:0012758 (neurodevelopmental delay); \r\nHP:0011400 (abnormal CNS myelination, periventricular, subcortical);\r\n HP:0001622 (pre. birth, 34 weeks)" "" "02y" "" "" "" "" "" "" "" "" "" "0000141998" "01003" "00179518" "01596" "Familial, autosomal recessive" "54y" "HP:0007503 (Gen. Ichthyosis);\r\nHP:0000989 (Pruritus, severe);\r\nHP:0002510 (Spastic quadriplegia/tetraplegia, unable to walk);\r\nHP:0001249 (intellectual disability);\r\nHP:0011400 (abn. CNS myelin.)" "" "" "" "" "" "" "" "" "" "" "" "0000143226" "01003" "00180959" "01596" "Familial, autosomal recessive" "57y" "HP:0007503 (Gen. Ichth.);\r\nHP:0000989 (Pruritus, mild);\r\nHP:0001258 (Spastic paraplegia, lower limbs, severe);\r\nHP:0001347 (Hyperreflexia, all limbs);\r\nHP:0001276 (Hypertonia);\r\nHP:0003487 (Babinski sign, bilaterally);\r\n HP:0001249 (intellectual disability, IQ 39)\r\n\r\nskin biopsy (right arm): orthohyperkeratosis with thin granular layers and mild acanthosis with papillomatosis\r\nElectron micr.: several lipid droplets without surrounding membrane in the cornified cells,\r\nabnormal lamellar granules lacking lamellar contents" "" "" "" "" "" "" "" "" "" "" "" "0000143242" "01003" "00180975" "01596" "Familial, autosomal recessive" "08y" "HP:0007503 (Gen. Ichth.);\r\nHP:0001264 (Spastic diplegia, able to walk);\r\nHP:0001249 (intellectual disability);\r\nHP:0007266 (Cerebral dysmyelination, periventricular, bilaterally symmetrical)" "" "" "" "" "" "" "" "" "" "" "" "0000143243" "01003" "00180976" "01596" "Familial, autosomal recessive" "13y" "HP:0007503 (Gen. Ichth.);\r\nHP:0002510 (Spastic quadriplegia/tetraplegia, not walking);\r\nHP:0001249 (intellectual disability);\r\nHP:0007266 (Cerebral dysmyelination, periventricular, bilaterally symmetrical)" "" "" "" "" "" "" "" "" "" "" "" "0000143244" "01003" "00180977" "01596" "Familial, autosomal recessive" "19y" "HP:0007503 (Gen. Ichth.);\r\nHP:0002510 (Spastic quadriplegia/tetraplegia, not walking);\r\nHP:0001249 (intellectual disability);\r\nHP:0007266 (Cerebral dysmyelination, periventricular, bilaterally symmetrical)" "" "" "" "" "" "" "" "" "" "" "" "0000143245" "01003" "00180978" "01596" "Familial, autosomal recessive" "24y" "HP:0007503 (Gen. Ichth.);\r\nHP:0002510 (Spastic quadriplegia/tetraplegia, able to walk);\r\nHP:0001249 (intellectual disability);\r\nHP:0007266 (Cerebral dysmyelination, periventricular, bilaterally symmetrical);\r\nHP:0030506 (yellow/white lesions of the retina)" "" "" "" "" "" "" "" "" "" "" "" "0000143246" "01003" "00180979" "01596" "Familial, autosomal recessive" "43y" "HP:0007503 (Gen. Ichth.);\r\nHP:0002510 (Spastic quadriplegia/tetraplegia, not walking);\r\nHP:0001249 (intellectual disability);\r\nHP:0007266 (Cerebral dysmyelination, periventricular, bilaterally symmetrical),\r\nHP:0030506 (yellow/white lesions of the retina);\r\nHP:0001250 (seizures)" "" "" "" "" "" "" "" "" "" "" "" "0000143247" "01003" "00180980" "01596" "Familial, autosomal recessive" "52y" "HP:0007503 (Gen. Ichth.);\r\nHP:0002510 (Spastic quadriplegia/tetraplegia, not walking);\r\nHP:0001249 (intellectual disability);\r\nHP:0007266 (Cerebral dysmyelination, periventricular, bilaterally symmetrical),\r\nHP:0030506 (yellow/white lesions of the retina);\r\nHP:0001250 (seizures);\r\nHP:0002650 (scoliosis)" "" "" "" "" "" "" "" "" "" "" "" "0000143248" "01003" "00180981" "01596" "Familial, autosomal recessive" "07y" "HP:0007503 (Gen. Ichthyosis, severe, \"collodion baby\");\r\nHP:0001258 (Spastic paraplegia);\r\nHP:0001249 (intellectual disability);\r\nHP:0007266 (Cerebral dysmyelination, periventricular, frontal, occipital),\r\nHP:0001250 (seizures);\r\n HP:0001622 (premature birth, 36 weeks);\r\nHP:0002751 (kyphoscoliosis);\r\nHP:0000369 (low-set ears)" "" "" "" "" "" "" "" "" "" "" "" "0000143340" "01003" "00181090" "01596" "Familial, autosomal recessive" "05y" "HP:0007503 (Gen. Ichth.);\r\nHP:0001258 (Spastic paraplegia);\r\nHP:0000164 (Abnormality of the dentition);\r\nHP:0000648 (Optic atrophy);\r\nHP:0007266 (Cerebral dysmyelination, periventricular);\r\nHP:0001263 (Global developmental delay);\r\nHP:0001347 (Hyperreflexia);\r\nMRS lipid peak" "" "" "" "" "" "" "" "" "" "" "" "0000143341" "01003" "00181091" "01596" "Familial, autosomal recessive" "04y" "HP:0007503 (Gen. Ichth.);\r\nHP:0001258 (Spastic paraplegia);\r\nHP:0000164 (Abnormality of the dentition);\r\nHP:0007266 (Cerebral dysmyelination, periventricular);\r\nHP:0001263 (Global developmental delay);\r\nHP:0001347 (Hyperreflexia)" "" "" "" "" "" "" "" "" "" "" "" "0000143342" "01003" "00181092" "01596" "Familial, autosomal recessive" "00y08m" "HP:0007503 (Gen. Ichth.);\r\nHP:0001258 (Spastic paraplegia);\r\nHP:0007266 (Cerebral dysmyelination, periventricular);\r\nHP:0001263 (Global developmental delay);\r\nHP:0001347 (Hyperreflexia)" "" "" "" "" "" "" "" "" "" "" "" "0000143362" "01003" "00181142" "01596" "Familial, autosomal recessive" "?" "\"HP:0007503 (Gen. Ichth.); HP:0000989 (Pruritus); HP:0001264 (Spastic diplegia); \r\nHP:0001622 (premat. birth)\"" "" "" "" "" "" "" "" "" "" "" "" "0000230695" "00198" "00303631" "00006" "Familial, autosomal recessive" "" "see paper; ..., syndromic intellectual disability/developmental delay" "" "" "" "" "" "" "" "" "" "syndromic ID/DD" "" "0000232602" "00198" "00306774" "01807" "Unknown" "" "Global developmental delay (HP:0001263)" "" "" "" "" "" "" "" "" "" "" "" "0000234264" "04214" "00308944" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Sjögren-Larsson syndrome" "" "0000269394" "00198" "00374184" "00006" "Familial, autosomal recessive" "" "Features suggestive of SLS" "" "" "" "" "" "" "" "" "" "Sjogren-Larsson syndrome" "" "0000277658" "04214" "00383873" "00000" "Familial, autosomal recessive" "" "crystalline retinopathy, skin ichthyosis, short stature and congenital adrenal hypoplasia" "" "" "" "" "" "" "" "" "Sjogren-Larsson syndrome" "" "" "0000281359" "00139" "00387791" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, no microcephaly" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000300228" "04214" "00408100" "00000" "Familial, autosomal recessive" "9y" "9 years old female child was born at term with normal birth weight and uncomplicated perinatal course. At the age of one year she developed dry skin with scaling and diagnosed to have ichthyosis. At the age of 18 months, she developed toe walking. She had normal development and cognition. Her examination demonstrated normal growth parameters and lower limb spasticity. Echocardiogram showed atrial septal defect. Her parents were cousins; and she had one healthy brother and two similarly affected sisters." "" "" "" "" "" "" "" "" "Sjogren-Larsson syndrome" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 188 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000064816" "00064676" "1" "00006" "00006" "2016-05-09 15:10:28" "00006" "2016-05-09 15:15:48" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000074763" "00074600" "1" "01596" "01596" "2016-07-08 22:11:03" "" "" "PCR" "DNA" "" "" "0000079311" "00079126" "1" "01596" "01596" "2016-08-07 11:14:29" "" "" "PCR" "DNA" "" "" "0000079438" "00079361" "1" "01596" "01596" "2016-08-09 19:58:17" "01596" "2016-08-15 20:28:20" "PCR" "DNA" "blood" "" "0000079642" "00079569" "1" "01596" "01596" "2016-08-14 17:39:44" "01596" "2016-08-15 20:26:30" "PCR" "DNA" "blood" "" "0000079644" "00079570" "1" "01596" "01596" "2016-08-14 19:01:29" "01596" "2016-08-15 20:25:34" "PCR" "DNA" "blood" "" "0000079707" "00079633" "1" "01596" "01596" "2016-08-15 20:09:25" "01596" "2016-08-15 20:25:05" "PCR" "DNA" "blood" "" "0000079708" "00079634" "1" "01596" "01596" "2016-08-15 20:16:26" "01596" "2016-08-15 20:24:06" "PCR" "DNA" "blood" "" "0000079950" "00079874" "1" "01596" "01596" "2016-08-21 12:09:04" "" "" "PCRdig" "DNA" "blood" "" "0000079999" "00079916" "1" "01596" "01596" "2016-08-27 14:12:59" "" "" "PCRdig" "DNA" "blood" "" "0000080000" "00079917" "1" "01596" "01596" "2016-08-27 17:19:11" "" "" "PCRdig" "DNA" "blood" "" "0000080001" "00079918" "1" "01596" "01596" "2016-08-27 17:51:07" "" "" "PCRdig" "DNA" "blood" "" "0000080002" "00079919" "1" "01596" "01596" "2016-08-27 18:12:58" "" "" "PCRdig" "DNA" "blood" "" "0000080003" "00079920" "1" "01596" "01596" "2016-08-27 18:36:25" "" "" "PCRdig" "DNA" "blood" "" "0000080823" "00080727" "1" "01596" "01596" "2016-09-08 19:48:37" "" "" "PCRdig" "DNA" "blood" "" "0000080867" "00080754" "1" "01596" "01596" "2016-09-10 10:53:21" "" "" "PCRdig" "DNA" "blood" "" "0000080868" "00080755" "1" "01596" "01596" "2016-09-10 11:19:20" "" "" "PCRdig" "DNA" "blood" "" "0000080869" "00080756" "1" "01596" "01596" "2016-09-10 12:03:09" "" "" "PCRdig" "DNA" "blood" "" "0000080870" "00080757" "1" "01596" "01596" "2016-09-10 12:11:04" "" "" "PCRdig" "DNA" "blood" "" "0000080871" "00080758" "1" "01596" "01596" "2016-09-10 12:22:38" "" "" "PCRdig" "DNA" "blood" "" "0000081334" "00081222" "1" "01596" "01596" "2016-09-25 13:15:24" "" "" "PCRdig" "DNA" "blood" "" "0000081335" "00081223" "1" "01596" "01596" "2016-09-25 13:30:15" "" "" "PCRdig" "DNA" "blood" "" "0000081336" "00081224" "1" "01596" "01596" "2016-09-25 13:38:21" "" "" "PCRdig" "DNA" "blood" "" "0000081337" "00081225" "1" "01596" "01596" "2016-09-25 13:48:22" "" "" "PCRdig" "DNA" "blood" "" "0000081338" "00081226" "1" "01596" "01596" "2016-09-25 13:57:07" "" "" "PCRdig" "DNA" "blood" "" "0000081339" "00081227" "1" "01596" "01596" "2016-09-25 14:04:54" "" "" "PCRdig" "DNA" "blood" "" "0000081340" "00081228" "1" "01596" "01596" "2016-09-25 15:47:13" "" "" "?" "DNA" "" "" "0000081341" "00081229" "1" "01596" "01596" "2016-09-25 16:21:47" "" "" "?" "DNA" "" "" "0000081342" "00081230" "1" "01596" "01596" "2016-09-25 16:34:24" "" "" "?" "DNA" "" "" "0000081343" "00081231" "1" "01596" "01596" "2016-09-25 17:04:59" "" "" "PCR" "DNA" "" "" "0000081344" "00081232" "1" "01596" "01596" "2016-09-25 17:32:03" "" "" "?" "DNA" "" "" "0000081345" "00081233" "1" "01596" "01596" "2016-09-26 11:34:20" "" "" "PCR" "DNA" "" "" "0000081346" "00081234" "1" "01596" "01596" "2016-09-26 12:23:08" "" "" "PCR;PCRlr;PCRm" "DNA" "cultured fibroblasts and blood" "" "0000081347" "00081235" "1" "01596" "01596" "2016-09-26 13:22:11" "" "" "FISH;PCRdig;PCRlr" "DNA" "cultured fibroblasts and blood" "" "0000081348" "00081236" "1" "01596" "01596" "2016-09-26 17:46:59" "" "" "PCR" "DNA" "" "" "0000081349" "00081237" "1" "01596" "01596" "2016-09-26 18:04:57" "" "" "PCR" "DNA" "" "" "0000081350" "00081238" "1" "01596" "01596" "2016-09-26 19:47:08" "" "" "PCR" "DNA" "blood, cultured skin fibroblasts" "" "0000081351" "00081239" "1" "01596" "01596" "2016-09-26 19:55:08" "" "" "PCR" "DNA" "blood, cultured skin fibroblasts" "" "0000081352" "00081240" "1" "01596" "01596" "2016-09-26 20:02:04" "" "" "PCR" "DNA" "blood, cultured skin fibroblasts" "" "0000081353" "00081241" "1" "01596" "01596" "2016-09-26 20:08:42" "" "" "PCR" "DNA" "blood, cultured skin fibroblasts" "" "0000081354" "00081243" "1" "01596" "01596" "2016-09-26 20:12:26" "" "" "PCR" "DNA" "blood, cultured skin fibroblasts" "" "0000081355" "00081242" "1" "01596" "01596" "2016-09-26 20:20:50" "" "" "PCR" "DNA" "blood, cultured skin fibroblasts" "" "0000081356" "00081244" "1" "01596" "01596" "2016-09-26 20:30:54" "" "" "PCR" "DNA" "blood, cultured skin fibroblasts" "" "0000081357" "00081245" "1" "01596" "01596" "2016-09-26 20:33:48" "" "" "PCR" "DNA" "blood, cultured skin fibroblasts" "" "0000081358" "00081246" "1" "01596" "01596" "2016-09-27 13:43:16" "" "" "?" "DNA" "" "" "0000081359" "00081247" "1" "01596" "01596" "2016-09-27 14:15:13" "" "" "?" "DNA" "" "" "0000081360" "00081248" "1" "01596" "01596" "2016-09-27 14:23:48" "" "" "?" "DNA" "" "" "0000081361" "00081249" "1" "01596" "01596" "2016-09-27 14:32:49" "" "" "?" "DNA" "" "" "0000081362" "00081250" "1" "01596" "01596" "2016-09-27 14:39:10" "" "" "?" "DNA" "" "" "0000081363" "00081251" "1" "01596" "01596" "2016-09-27 15:30:43" "" "" "?" "DNA" "" "" "0000081364" "00081252" "1" "01596" "01596" "2016-09-27 15:35:26" "" "" "?" "DNA" "" "" "0000081365" "00081253" "1" "01596" "01596" "2016-09-27 15:47:11" "" "" "?" "DNA" "" "" "0000081366" "00081254" "1" "01596" "01596" "2016-09-27 15:56:39" "" "" "?" "DNA" "" "" "0000081367" "00081255" "1" "01596" "01596" "2016-09-27 16:01:44" "" "" "?" "DNA" "" "" "0000081368" "00081256" "1" "01596" "01596" "2016-09-27 16:15:15" "" "" "?" "DNA" "" "" "0000081369" "00081257" "1" "01596" "01596" "2016-09-27 16:48:32" "" "" "?" "DNA" "" "" "0000081370" "00081258" "1" "01596" "01596" "2016-09-27 16:51:06" "" "" "?" "DNA" "" "" "0000081371" "00081259" "1" "01596" "01596" "2016-09-27 17:04:13" "" "" "?" "DNA" "" "" "0000081372" "00081260" "1" "01596" "01596" "2016-09-27 18:17:17" "" "" "?" "DNA" "" "" "0000081373" "00081261" "1" "01596" "01596" "2016-09-27 18:25:26" "" "" "?" "DNA" "" "" "0000081374" "00081262" "1" "01596" "01596" "2016-09-27 18:31:13" "" "" "?" "DNA" "" "" "0000081375" "00081263" "1" "01596" "01596" "2016-09-27 18:37:24" "" "" "?" "DNA" "" "" "0000081376" "00081264" "1" "01596" "01596" "2016-09-27 18:41:59" "" "" "?" "DNA" "" "" "0000081377" "00081266" "1" "01596" "01596" "2016-09-27 19:00:28" "" "" "?" "DNA" "" "" "0000081378" "00081267" "1" "01596" "01596" "2016-09-27 19:04:45" "" "" "?" "DNA" "" "" "0000081379" "00081268" "1" "01596" "01596" "2016-09-27 19:07:44" "" "" "?" "DNA" "" "" "0000081380" "00081269" "1" "01596" "01596" "2016-09-27 19:15:01" "" "" "?" "DNA" "" "" "0000081381" "00081270" "1" "01596" "01596" "2016-09-27 19:20:14" "" "" "?" "DNA" "" "" "0000081385" "00081274" "1" "01596" "01596" "2016-09-28 16:00:26" "" "" "PCR" "DNA" "blood" "" "0000081386" "00081275" "1" "01596" "01596" "2016-09-28 16:16:20" "" "" "PCR" "DNA" "blood" "" "0000081392" "00081279" "1" "01596" "01596" "2016-09-28 19:01:24" "" "" "PCR" "DNA" "blood" "" "0000081393" "00081280" "1" "01596" "01596" "2016-09-28 19:41:09" "" "" "PCR;PCRdig" "DNA" "blood" "" "0000081394" "00081281" "1" "01596" "01596" "2016-09-29 10:42:13" "" "" "PCR;PCRdig" "DNA" "blood" "" "0000081395" "00081282" "1" "01596" "01596" "2016-09-29 10:48:00" "" "" "PCR;PCRdig" "DNA" "blood" "" "0000081396" "00081283" "1" "01596" "01596" "2016-09-29 11:00:33" "" "" "PCR;PCRdig" "DNA" "blood" "" "0000081397" "00081284" "1" "01596" "01596" "2016-09-29 11:08:09" "" "" "PCR;PCRdig" "DNA" "blood" "" "0000081398" "00081285" "1" "01596" "01596" "2016-09-29 11:13:47" "" "" "PCR;PCRdig" "DNA" "blood" "" "0000081399" "00081286" "1" "01596" "01596" "2016-09-29 11:22:15" "" "" "PCR;PCRdig" "DNA" "blood" "" "0000081400" "00081287" "1" "01596" "01596" "2016-09-29 11:31:38" "" "" "PCR;PCRdig" "DNA" "blood" "" "0000081401" "00081288" "1" "01596" "01596" "2016-09-29 11:38:22" "01596" "2016-09-29 11:40:05" "PCR;PCRdig" "DNA" "blood" "" "0000081405" "00081292" "1" "01596" "01596" "2016-09-29 13:51:16" "" "" "PCR;PCRdig" "DNA" "" "" "0000081406" "00081293" "1" "01596" "01596" "2016-09-29 13:58:17" "" "" "PCR;PCRdig" "DNA" "" "" "0000081407" "00081294" "1" "01596" "01596" "2016-09-29 14:03:44" "" "" "PCR;PCRdig" "DNA" "" "" "0000081408" "00081295" "1" "01596" "01596" "2016-09-29 14:16:15" "" "" "PCR;PCRdig" "DNA" "" "" "0000081409" "00081296" "1" "01596" "01596" "2016-09-29 14:22:21" "" "" "PCR;PCRdig" "DNA" "" "" "0000081410" "00081297" "1" "01596" "01596" "2016-09-29 14:29:33" "" "" "PCR;PCRdig" "DNA" "" "" "0000081411" "00081298" "1" "01596" "01596" "2016-09-30 10:15:03" "" "" "PCR" "DNA" "blood" "" "0000081412" "00081299" "1" "01596" "01596" "2016-09-30 10:31:33" "" "" "PCR" "DNA" "blood" "" "0000081413" "00081300" "1" "01596" "01596" "2016-09-30 11:13:59" "" "" "PCR" "DNA" "cultured cells or blood" "" "0000081414" "00081301" "1" "01596" "01596" "2016-09-30 11:44:34" "" "" "PCR" "DNA" "cultured cells or blood" "" "0000081415" "00081302" "1" "01596" "01596" "2016-09-30 11:52:45" "" "" "PCR" "DNA" "cultured cells or blood" "" "0000081416" "00081303" "1" "01596" "01596" "2016-09-30 11:58:00" "" "" "PCR" "DNA" "cultured cells or blood" "" "0000081417" "00081304" "1" "01596" "01596" "2016-09-30 12:09:39" "" "" "PCR" "DNA" "cultured cells or blood" "" "0000081418" "00081305" "1" "01596" "01596" "2016-09-30 12:18:20" "" "" "PCR" "DNA" "cultured cells or blood" "" "0000081419" "00081306" "1" "01596" "01596" "2016-09-30 12:21:49" "" "" "PCR" "DNA" "cultured cells or blood" "" "0000081420" "00081307" "1" "01596" "01596" "2016-09-30 12:29:13" "" "" "PCR" "DNA" "cultured cells or blood" "" "0000081421" "00081309" "1" "01596" "01596" "2016-09-30 12:33:51" "" "" "PCR" "DNA" "cultured cells or blood" "" "0000081422" "00081310" "1" "01596" "01596" "2016-09-30 13:54:38" "" "" "PCR" "DNA" "cultured cells or blood" "" "0000081423" "00081311" "1" "01596" "01596" "2016-09-30 13:59:01" "" "" "PCR" "DNA" "cultured cells or blood" "" "0000081425" "00081313" "1" "01596" "01596" "2016-09-30 17:23:36" "" "" "?" "DNA" "" "" "0000081426" "00081315" "1" "01596" "01596" "2016-10-01 13:35:06" "" "" "PCR" "DNA" "blood" "" "0000089013" "00088870" "1" "01596" "01596" "2016-11-26 10:08:08" "" "" "PCR;RT-PCR" "DNA;RNA" "blood" "" "0000089086" "00088943" "1" "01596" "01596" "2016-11-26 12:07:58" "" "" "PCR;RT-PCR" "DNA;RNA" "blood" "" "0000089087" "00088944" "1" "01596" "01596" "2016-11-26 12:34:59" "" "" "PCR;RT-PCR" "DNA;RNA" "blood" "" "0000089088" "00088945" "1" "01596" "01596" "2016-11-26 12:47:09" "" "" "PCR;RT-PCR" "DNA;RNA" "blood" "" "0000089089" "00088946" "1" "01596" "01596" "2016-11-26 12:57:47" "" "" "PCR;RT-PCR" "DNA;RNA" "blood" "" "0000089090" "00088947" "1" "01596" "01596" "2016-11-26 13:55:43" "" "" "PCR;RT-PCR" "DNA;RNA" "blood" "" "0000089091" "00088948" "1" "01596" "01596" "2016-11-26 14:11:58" "" "" "PCR;RT-PCR" "DNA;RNA" "blood" "" "0000089092" "00088949" "1" "01596" "01596" "2016-11-26 14:24:29" "" "" "PCR;RT-PCR" "DNA;RNA" "blood" "" "0000089096" "00088951" "1" "01596" "01596" "2016-11-26 19:18:45" "" "" "PCR" "DNA" "cultured skin fibroblasts" "" "0000089097" "00088954" "1" "01596" "01596" "2016-11-26 19:55:04" "" "" "PCR" "DNA" "" "" "0000089099" "00088955" "1" "01596" "01596" "2016-11-26 20:07:45" "" "" "PCR" "DNA" "" "" "0000089158" "00089013" "1" "01596" "01596" "2016-11-27 13:16:26" "" "" "PCR" "DNA" "" "" "0000089159" "00089014" "1" "01596" "01596" "2016-11-27 13:23:26" "" "" "PCR" "DNA" "" "" "0000089160" "00089015" "1" "01596" "01596" "2016-11-27 13:52:40" "" "" "PCR" "DNA" "" "" "0000089169" "00089024" "1" "01596" "01596" "2016-11-27 20:52:12" "" "" "PCR" "DNA" "blood" "" "0000089188" "00089044" "1" "01596" "01596" "2016-11-28 15:45:25" "" "" "PCR" "DNA" "blood" "" "0000089190" "00089046" "1" "01596" "01596" "2016-11-28 15:53:35" "" "" "PCR" "DNA" "blood" "" "0000089191" "00089047" "1" "01596" "01596" "2016-11-28 15:58:49" "" "" "PCR" "DNA" "blood" "" "0000089192" "00089048" "1" "01596" "01596" "2016-11-28 16:01:58" "" "" "PCR" "DNA" "blood" "" "0000089194" "00089050" "1" "01596" "01596" "2016-11-28 16:06:37" "" "" "PCR" "DNA" "blood" "" "0000089196" "00089052" "1" "01596" "01596" "2016-11-28 16:14:28" "" "" "PCR" "DNA" "blood" "" "0000089198" "00089054" "1" "01596" "01596" "2016-11-28 16:22:35" "" "" "PCR" "DNA" "blood" "" "0000089200" "00089056" "1" "01596" "01596" "2016-11-28 16:26:10" "" "" "PCR" "DNA" "blood" "" "0000089212" "00089067" "1" "01596" "01596" "2016-11-28 20:31:09" "" "" "PCR" "DNA" "blood" "" "0000089213" "00089068" "1" "01596" "01596" "2016-11-28 20:34:51" "" "" "PCR" "DNA" "blood" "" "0000094174" "00094006" "1" "01596" "01596" "2016-12-30 20:42:58" "" "" "PCR" "DNA" "" "" "0000094187" "00094019" "1" "01596" "01596" "2017-01-01 16:30:51" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000094188" "00094020" "1" "01596" "01596" "2017-01-01 16:39:07" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000100837" "00100432" "1" "01596" "01596" "2017-02-22 10:57:05" "" "" "PCR;RT-PCR" "DNA;RNA" "" "" "0000100838" "00100433" "1" "01596" "01596" "2017-02-22 12:04:47" "" "" "PCR" "DNA" "" "" "0000100839" "00100434" "1" "01596" "01596" "2017-02-22 12:14:13" "" "" "PCR" "DNA" "" "" "0000100840" "00100435" "1" "01596" "01596" "2017-02-22 12:19:23" "" "" "PCR" "DNA" "" "" "0000102551" "00102100" "1" "01864" "01864" "2017-03-30 11:27:04" "" "" "SEQ;SEQ-NG-I" "DNA" "blood" "" "0000108663" "00108195" "1" "01596" "01596" "2017-07-23 19:14:26" "" "" "PCR" "DNA" "" "" "0000110896" "00110426" "1" "01596" "01596" "2017-07-30 10:49:21" "" "" "PCR" "DNA" "" "" "0000111001" "00110535" "1" "01596" "01596" "2017-07-30 16:49:42" "" "" "PCR" "DNA" "" "" "0000111843" "00111378" "1" "01596" "01596" "2017-08-02 16:31:44" "" "" "PCR" "DNA" "" "" "0000114013" "00113556" "1" "01596" "01596" "2017-08-06 10:36:56" "" "" "PCR" "DNA" "" "" "0000114014" "00113557" "1" "01596" "01596" "2017-08-06 10:57:13" "" "" "PCR" "DNA" "" "" "0000114015" "00113558" "1" "01596" "01596" "2017-08-06 14:46:51" "" "" "arraySNP" "DNA" "" "" "0000145254" "00144394" "1" "01596" "01596" "2017-12-10 18:03:40" "" "" "PCR" "DNA" "blood" "" "0000145296" "00144438" "1" "01596" "01596" "2017-12-13 22:37:32" "" "" "PCR" "DNA" "blood" "" "0000145301" "00144443" "1" "01596" "01596" "2017-12-14 14:44:09" "" "" "PCR" "DNA" "blood" "" "0000145302" "00144444" "1" "01596" "01596" "2017-12-14 15:16:29" "" "" "PCR" "DNA" "blood" "" "0000145304" "00144446" "1" "01596" "01596" "2017-12-14 16:13:03" "" "" "PCR" "DNA" "blood" "" "0000145311" "00144453" "1" "01596" "01596" "2017-12-14 22:26:10" "" "" "PCR" "DNA" "blood" "" "0000145312" "00144454" "1" "01596" "01596" "2017-12-14 22:37:28" "" "" "PCR" "DNA" "blood" "" "0000145489" "00144632" "1" "01596" "01596" "2017-12-18 19:36:44" "" "" "PCR" "DNA" "blood" "" "0000145490" "00144633" "1" "01596" "01596" "2017-12-18 20:36:09" "" "" "PCR" "DNA" "" "" "0000165235" "00164368" "1" "01596" "01596" "2018-05-16 15:28:19" "" "" "PCR" "DNA" "" "" "0000165236" "00164369" "1" "01596" "01596" "2018-05-16 16:43:30" "" "" "PCR" "DNA" "" "" "0000165237" "00164370" "1" "01596" "01596" "2018-05-16 17:15:40" "" "" "PCR" "DNA" "" "" "0000165238" "00164371" "1" "01596" "01596" "2018-05-16 17:32:43" "" "" "PCR" "DNA" "" "" "0000165239" "00164372" "1" "01596" "01596" "2018-05-16 17:46:37" "" "" "PCR" "DNA" "" "" "0000165240" "00164373" "1" "01596" "01596" "2018-05-16 18:26:45" "" "" "PCR" "DNA" "" "" "0000165241" "00164374" "1" "01596" "01596" "2018-05-16 18:37:54" "" "" "PCR" "DNA" "" "" "0000165323" "00164457" "1" "01596" "01596" "2018-05-19 15:13:07" "" "" "PCR" "DNA" "" "" "0000180321" "00179418" "1" "01596" "01596" "2018-08-21 11:17:11" "" "" "PCR" "DNA" "blood" "" "0000180322" "00179419" "1" "01596" "01596" "2018-08-21 11:40:44" "" "" "PCR" "DNA" "blood" "" "0000180323" "00179420" "1" "01596" "01596" "2018-08-21 11:46:59" "" "" "PCR" "DNA" "blood" "" "0000180358" "00179454" "1" "01596" "01596" "2018-08-22 10:51:37" "" "" "PCR" "DNA" "" "" "0000180360" "00179456" "1" "01596" "01596" "2018-08-22 12:23:42" "" "" "PCR" "DNA" "" "" "0000180362" "00179458" "1" "01596" "01596" "2018-08-22 17:28:07" "" "" "PCR" "DNA" "" "" "0000180414" "00179510" "1" "01596" "01596" "2018-08-23 09:32:17" "" "" "PCR" "DNA" "" "" "0000180418" "00179512" "1" "01596" "01596" "2018-08-23 14:56:22" "" "" "PCR" "DNA" "" "" "0000180421" "00179518" "1" "01596" "01596" "2018-08-23 20:06:54" "" "" "PCR" "DNA" "blood" "" "0000181904" "00180959" "1" "01596" "01596" "2018-09-17 20:24:21" "" "" "PCR" "DNA" "blood" "" "0000181924" "00180975" "1" "01596" "01596" "2018-09-19 13:42:46" "" "" "PCR" "DNA" "" "" "0000181925" "00180976" "1" "01596" "01596" "2018-09-19 13:56:59" "" "" "PCR" "DNA" "" "" "0000181926" "00180977" "1" "01596" "01596" "2018-09-19 14:14:37" "" "" "PCR" "DNA" "" "" "0000181927" "00180978" "1" "01596" "01596" "2018-09-19 14:24:08" "" "" "PCR" "DNA" "" "" "0000181928" "00180979" "1" "01596" "01596" "2018-09-19 14:54:34" "" "" "PCR" "DNA" "" "" "0000181929" "00180980" "1" "01596" "01596" "2018-09-19 15:00:00" "" "" "PCR" "DNA" "" "" "0000181930" "00180981" "1" "01596" "01596" "2018-09-19 18:34:47" "" "" "PCR" "DNA" "" "" "0000182039" "00181090" "1" "01596" "01596" "2018-09-25 11:52:54" "" "" "PCR" "DNA" "" "" "0000182040" "00181091" "1" "01596" "01596" "2018-09-25 11:59:42" "" "" "PCR" "DNA" "" "" "0000182041" "00181092" "1" "01596" "01596" "2018-09-25 12:05:41" "" "" "PCR" "DNA" "" "" "0000182099" "00181142" "1" "01596" "01596" "2018-10-01 16:51:14" "" "" "PCR" "DNA" "" "" "0000292826" "00291658" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000304759" "00303631" "1" "00006" "00006" "2020-06-17 11:20:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000305700" "00304571" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000307910" "00306774" "1" "01807" "01807" "2020-07-20 10:32:01" "" "" "SEQ" "DNA" "" "" "0000310089" "00308944" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000375378" "00374184" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000385098" "00383873" "1" "00000" "03840" "2021-09-29 13:08:31" "" "" "SEQ-NG;arraySNP;SEQ" "DNA" "blood" "whole exome sequencing, SNP array homozygosity mapping" "0000389022" "00387791" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000409355" "00408100" "1" "00000" "03840" "2022-04-13 19:19:00" "" "" "arraySNP;SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 185 "{{screeningid}}" "{{geneid}}" "0000064816" "ALDH3A2" "0000074763" "ALDH3A2" "0000079311" "ALDH3A2" "0000079438" "ALDH3A2" "0000079642" "ALDH3A2" "0000079644" "ALDH3A2" "0000079707" "ALDH3A2" "0000079708" "ALDH3A2" "0000079950" "ALDH3A2" "0000079999" "ALDH3A2" "0000080000" "ALDH3A2" "0000080001" "ALDH3A2" "0000080002" "ALDH3A2" "0000080003" "ALDH3A2" "0000080823" "ALDH3A2" "0000080867" "ALDH3A2" "0000080868" "ALDH3A2" "0000080869" "ALDH3A2" "0000080870" "ALDH3A2" "0000080871" "ALDH3A2" "0000081334" "ALDH3A2" "0000081335" "ALDH3A2" "0000081336" "ALDH3A2" "0000081337" "ALDH3A2" "0000081338" "ALDH3A2" "0000081339" "ALDH3A2" "0000081340" "ALDH3A2" "0000081341" "ALDH3A2" "0000081342" "ALDH3A2" "0000081343" "ALDH3A2" "0000081344" "ALDH3A2" "0000081345" "ALDH3A2" "0000081346" "ALDH3A2" "0000081347" "ALDH3A2" "0000081348" "ALDH3A2" "0000081349" "ALDH3A2" "0000081350" "ALDH3A2" "0000081351" "ALDH3A2" "0000081352" "ALDH3A2" "0000081353" "ALDH3A2" "0000081354" "ALDH3A2" "0000081355" "ALDH3A2" "0000081356" "ALDH3A2" "0000081357" "ALDH3A2" "0000081358" "ALDH3A2" "0000081359" "ALDH3A2" "0000081360" "ALDH3A2" "0000081361" "ALDH3A2" "0000081362" "ALDH3A2" "0000081363" "ALDH3A2" "0000081364" "ALDH3A2" "0000081365" "ALDH3A2" "0000081366" "ALDH3A2" "0000081367" "ALDH3A2" "0000081368" "ALDH3A2" "0000081369" "ALDH3A2" "0000081370" "ALDH3A2" "0000081371" "ALDH3A2" "0000081372" "ALDH3A2" "0000081373" "ALDH3A2" "0000081374" "ALDH3A2" "0000081375" "ALDH3A2" "0000081376" "ALDH3A2" "0000081377" "ALDH3A2" "0000081378" "ALDH3A2" "0000081379" "ALDH3A2" "0000081380" "ALDH3A2" "0000081381" "ALDH3A2" "0000081385" "ALDH3A2" "0000081386" "ALDH3A2" "0000081392" "ALDH3A2" "0000081393" "ALDH3A2" "0000081394" "ALDH3A2" "0000081395" "ALDH3A2" "0000081396" "ALDH3A2" "0000081397" "ALDH3A2" "0000081398" "ALDH3A2" "0000081399" "ALDH3A2" "0000081400" "ALDH3A2" "0000081401" "ALDH3A2" "0000081405" "ALDH3A2" "0000081406" "ALDH3A2" "0000081407" "ALDH3A2" "0000081408" "ALDH3A2" "0000081409" "ALDH3A2" "0000081410" "ALDH3A2" "0000081411" "ALDH3A2" "0000081412" "ALDH3A2" "0000081413" "ALDH3A2" "0000081414" "ALDH3A2" "0000081415" "ALDH3A2" "0000081416" "ALDH3A2" "0000081417" "ALDH3A2" "0000081418" "ALDH3A2" "0000081419" "ALDH3A2" "0000081420" "ALDH3A2" "0000081421" "ALDH3A2" "0000081422" "ALDH3A2" "0000081423" "ALDH3A2" "0000081425" "ALDH3A2" "0000081426" "ALDH3A2" "0000089013" "ALDH3A2" "0000089086" "ALDH3A2" "0000089087" "ALDH3A2" "0000089088" "ALDH3A2" "0000089089" "ALDH3A2" "0000089090" "ALDH3A2" "0000089091" "ALDH3A2" "0000089092" "ALDH3A2" "0000089096" "ALDH3A2" "0000089097" "ALDH3A2" "0000089099" "ALDH3A2" "0000089158" "ALDH3A2" "0000089159" "ALDH3A2" "0000089160" "ALDH3A2" "0000089169" "ALDH3A2" "0000089188" "ALDH3A2" "0000089190" "ALDH3A2" "0000089191" "ALDH3A2" "0000089192" "ALDH3A2" "0000089194" "ALDH3A2" "0000089196" "ALDH3A2" "0000089198" "ALDH3A2" "0000089200" "ALDH3A2" "0000089212" "ALDH3A2" "0000089213" "ALDH3A2" "0000094174" "ALDH3A2" "0000094187" "ALDH3A2" "0000094188" "ALDH3A2" "0000100837" "ALDH3A2" "0000100838" "ALDH3A2" "0000100839" "ALDH3A2" "0000100840" "ALDH3A2" "0000102551" "ALDH3A2" "0000108663" "ALDH3A2" "0000110896" "ALDH3A2" "0000111001" "ALDH3A2" "0000111843" "ALDH3A2" "0000114013" "ALDH3A2" "0000114014" "ALDH3A2" "0000114015" "ALDH3A2" "0000145254" "ALDH3A2" "0000145296" "ALDH3A2" "0000145301" "ALDH3A2" "0000145302" "ALDH3A2" "0000145304" "ALDH3A2" "0000145311" "ALDH3A2" "0000145312" "ALDH3A2" "0000145489" "ALDH3A2" "0000145490" "ALDH3A2" "0000165235" "ALDH3A2" "0000165236" "ALDH3A2" "0000165237" "ALDH3A2" "0000165238" "ALDH3A2" "0000165239" "ALDH3A2" "0000165240" "ALDH3A2" "0000165241" "ALDH3A2" "0000165323" "ALDH3A2" "0000180321" "ALDH3A2" "0000180322" "ALDH3A2" "0000180323" "ALDH3A2" "0000180358" "ALDH3A2" "0000180360" "ALDH3A2" "0000180362" "ALDH3A2" "0000180414" "ALDH3A2" "0000180418" "ALDH3A2" "0000180421" "ALDH3A2" "0000181904" "ALDH3A2" "0000181924" "ALDH3A2" "0000181925" "ALDH3A2" "0000181926" "ALDH3A2" "0000181927" "ALDH3A2" "0000181928" "ALDH3A2" "0000181929" "ALDH3A2" "0000181930" "ALDH3A2" "0000182039" "ALDH3A2" "0000182040" "ALDH3A2" "0000182041" "ALDH3A2" "0000182099" "ALDH3A2" "0000304759" "ALDH3A2" "0000310089" "ALDH3A2" "0000375378" "ALDH3A2" "0000385098" "ALDH3A2" "0000389022" "ALDH3A2" "0000409355" "ALDH3A2" ## 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 = 293 "{{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}}" "0000096440" "11" "90" "17" "19559728" "19559728" "del" "0" "00006" "ALDH3A2_000001" "g.19559728del" "" "{PMID:De Laurenzi 1996:08528251}" "" "T521del" "" "Germline" "yes" "rs387906254" "0" "" "" "g.19656415del" "" "pathogenic" "" "0000096441" "21" "90" "17" "19564450" "19564450" "del" "0" "00006" "ALDH3A2_000002" "g.19564450del" "" "{PMID:De Laurenzi 1996:08528251}" "" "808delG" "" "Germline" "yes" "rs387906255" "0" "" "" "g.19661137del" "" "pathogenic" "" "0000127950" "3" "99" "17" "19575135" "19575135" "subst" "0" "01596" "ALDH3A2_000003" "g.19575135A>T" "" "{PMID:Davis 2013:23034980}, {DOI:Davis 2013:10.1177/0883073812460581}" "" "c.1309A>T" "" "Germline" "yes" "" "0" "" "" "g.19671822A>T" "" "pathogenic" "" "0000127951" "3" "99" "17" "19575135" "19575135" "subst" "0" "01596" "ALDH3A2_000003" "g.19575135A>T" "" "{PMID:Davis 2013:23034980}, {DOI:Davis 2013:10.1177/0883073812460581}" "" "" "" "Germline" "yes" "" "0" "" "" "g.19671822A>T" "" "pathogenic" "" "0000128166" "3" "99" "17" "19555946" "19555946" "del" "0" "01596" "ALDH3A2_000004" "g.19555946del" "" "{DOI:Sarret 2012:10.1016/j.jns.2011.08.006}; {PMID:Sarret 2012:21872273}" "" "c.471+1delG" "mRNA-analysis revealed three different transcripts (r.154-471del; r.386-471del; r.471delG)" "Germline" "yes" "" "0" "" "" "g.19652633del" "" "pathogenic" "" "0000128388" "0" "99" "17" "19559678" "19559678" "subst" "0" "01596" "ALDH3A2_000005" "g.19559678G>T" "" "{DOI:Sarret 2012:10.1016/j.jns.2011.08.006}; {PMID:Sarret 2012:21872273}" "" "c.472-1G>T" "RNA and protein changes according to paper:\r\nr.472-504del; p.Asp158-Glu168del" "Germline" "yes" "" "0" "" "" "g.19656365G>T" "" "pathogenic" "" "0000128390" "0" "99" "17" "19561110" "19561110" "subst" "4.06128E-6" "01596" "ALDH3A2_000006" "g.19561110G>A" "" "{DOI:Sarret 2012:10.1016/j.jns.2011.08.006}; {PMID:Sarret 2012:21872273}" "" "c.733G>A" "" "Germline" "yes" "" "0" "" "" "g.19657797G>A" "" "pathogenic" "" "0000128391" "20" "99" "17" "19555946" "19555946" "del" "0" "01596" "ALDH3A2_000004" "g.19555946del" "" "{PMID:Sarret 2012:21872273}; {DOI:Sarret 2012:10.1016/j.jns.2011.08.006}" "" "c.471+1delG" "" "Germline" "yes" "" "0" "" "" "g.19652633del" "" "pathogenic" "" "0000128392" "11" "99" "17" "19559826" "19559826" "dup" "0" "01596" "ALDH3A2_000007" "g.19559826dup" "" "{PMID:Sarret 2012:21872273}; {DOI:Darret 2012:10.1016/j.jns.2011.08.006}" "" "c.619_620insG" "" "Germline" "yes" "" "0" "" "" "g.19656513dup" "" "pathogenic" "" "0000128481" "3" "79" "17" "19555076" "19555076" "subst" "0" "01596" "ALDH3A2_000008" "g.19555076G>A" "" "{PMID:Sarret 2012:21872273}; {DOI:Sarret 2012:10.1016/j.jns.2011.08.006}" "" "c.370G>A" "" "Germline" "yes" "" "0" "" "" "g.19651763G>A" "" "likely pathogenic" "" "0000128482" "3" "79" "17" "19559855" "19559856" "ins" "0" "01596" "ALDH3A2_000009" "g.19559855_19559856insAT" "" "{PMID:Sarret 2012:21872273}; {DOI:Sarret 2012:10.1016/j.jns.2011.08.006}" "" "c.648_649insAT" "" "Germline" "yes" "" "0" "" "" "g.19656542_19656543insAT" "" "likely pathogenic" "" "0000128829" "0" "99" "17" "19575123" "19575124" "del" "0" "01596" "ALDH3A2_000010" "g.19575123_19575124del" "" "{PMID:Willemsen 2001:11408337}" "" "c.1297_1298delGA" "" "Germline" "" "" "0" "" "" "g.19671810_19671811del" "" "pathogenic" "" "0000128830" "0" "99" "17" "19561175" "19561175" "subst" "4.07242E-6" "01596" "ALDH3A2_000011" "g.19561175G>C" "" "{PMID:Willemsen 2001:11408337}" "" "c.798G>C" "" "Germline" "yes" "" "0" "" "" "g.19657862G>C" "" "pathogenic" "" "0000128874" "0" "99" "17" "19566648" "19566648" "subst" "0.000109686" "01596" "ALDH3A2_000012" "g.19566648C>T" "" "{PMID:Willemsen 2001:11408337}" "" "c.943C>T" "" "Germline" "" "" "0" "" "" "g.19663335C>T" "" "pathogenic" "" "0000128875" "0" "99" "17" "19552309" "19552334" "del" "0" "01596" "ALDH3A2_000013" "g.19552309_19552334del" "" "{PMID:Willemsen 2001:11408337}" "" "c.21_46del" "" "Germline" "" "" "0" "" "" "g.19648996_19649021del" "" "pathogenic" "" "0000128876" "3" "99" "17" "19566648" "19566648" "subst" "0.000109686" "01596" "ALDH3A2_000012" "g.19566648C>T" "" "{PMID:Willemsen 2001:11408337}" "" "c.943C>T" "" "Germline" "" "" "0" "" "" "g.19663335C>T" "" "pathogenic" "" "0000128877" "3" "99" "17" "19552364" "19552364" "subst" "0" "01596" "ALDH3A2_000014" "g.19552364T>C" "" "{PMID:Willemsen 2001:11408337}" "" "c.80C>T (???)" "" "Germline" "" "" "0" "" "" "g.19649051T>C" "" "pathogenic" "" "0000128878" "0" "99" "17" "19575123" "19575124" "del" "0" "01596" "ALDH3A2_000010" "g.19575123_19575124del" "" "{PMID:Willemsen 2001:11408337}" "" "c.1297_1298delGA" "" "Germline" "" "" "0" "" "" "g.19671810_19671811del" "" "pathogenic" "" "0000128879" "0" "99" "17" "19561175" "19561175" "subst" "4.07242E-6" "01596" "ALDH3A2_000011" "g.19561175G>C" "" "{PMID:Willemsen 2001:11408337}" "" "c.798G>C" "" "Germline" "" "" "0" "" "" "g.19657862G>C" "" "pathogenic" "" "0000128880" "0" "99" "17" "19575123" "19575124" "del" "0" "01596" "ALDH3A2_000010" "g.19575123_19575124del" "" "{PMID:Willemsen 2001:11408337}" "" "c.1297_1298delGA" "" "Germline" "" "" "0" "" "" "g.19671810_19671811del" "" "pathogenic" "" "0000128881" "0" "99" "17" "19552364" "19552364" "subst" "0" "01596" "ALDH3A2_000014" "g.19552364T>C" "" "{PMID:Willemsen 2001:11408337}" "" "c.80C>T (???)" "" "Germline" "" "" "0" "" "" "g.19649051T>C" "" "pathogenic" "" "0000129872" "3" "99" "17" "19559694" "19559694" "dup" "0" "01596" "ALDH3A2_000015" "g.19559694dup" "" "{PMID:Willemsen 2001:11408337}" "" "c.487_488insA" "" "Germline" "" "" "0" "" "" "g.19656381dup" "" "pathogenic" "" "0000129925" "3" "99" "17" "19575210" "19575213" "del" "0" "01596" "ALDH3A2_000087" "g.19575210_19575213del" "" "{PMID:Willemsen 2001:11408337}" "" "c.1381_1384delGAAA" "Mutation corrected according to another paper of same author PMID 10233781" "Germline" "" "" "0" "" "" "g.19671897_19671900del" "" "pathogenic" "" "0000129926" "3" "99" "17" "19575210" "19575213" "del" "0" "01596" "ALDH3A2_000087" "g.19575210_19575213del" "" "{PMID:Willemsen 2001:11408337}" "" "c.1381_1384delGAAA" "Mutation corrected according to another paper of same author PMID 10233781" "Germline" "" "" "0" "" "" "g.19671897_19671900del" "" "pathogenic" "" "0000129927" "3" "99" "17" "19561110" "19561110" "subst" "4.06128E-6" "01596" "ALDH3A2_000006" "g.19561110G>A" "" "{PMID:Willemsen 2001:11408337}" "" "c.733G>A" "" "Germline" "" "" "0" "" "" "g.19657797G>A" "" "pathogenic" "" "0000129928" "3" "99" "17" "19575123" "19575124" "del" "0" "01596" "ALDH3A2_000010" "g.19575123_19575124del" "" "{PMID:Willemsen 2001:11408337}" "" "c.1297_1298delGA" "" "Germline" "" "" "0" "" "" "g.19671810_19671811del" "" "pathogenic" "" "0000129929" "3" "99" "17" "19575123" "19575124" "del" "0" "01596" "ALDH3A2_000010" "g.19575123_19575124del" "" "{PMID:Willemsen 2001:11408337}" "" "c.1297_1298delGA" "" "Germline" "" "" "0" "" "" "g.19671810_19671811del" "" "pathogenic" "" "0000130453" "0" "99" "17" "19575123" "19575124" "del" "0" "01596" "ALDH3A2_000010" "g.19575123_19575124del" "" "{PMID:Willemsen 2001:11408337}" "" "c.1297_1298delGA" "" "Germline" "" "" "0" "" "" "g.19671810_19671811del" "" "pathogenic" "" "0000130454" "0" "99" "17" "19566648" "19566648" "subst" "0.000109686" "01596" "ALDH3A2_000012" "g.19566648C>T" "" "{PMID:Willemsen 2001:11408337}" "" "c.943C>T" "" "Germline" "" "" "0" "" "" "g.19663335C>T" "" "pathogenic" "" "0000130456" "0" "99" "17" "19575123" "19575124" "del" "0" "01596" "ALDH3A2_000010" "g.19575123_19575124del" "" "{PMID:Willemsen 2001:11408337}" "" "c.1297_1298delGA" "" "Germline" "" "" "0" "" "" "g.19671810_19671811del" "" "pathogenic" "" "0000130458" "0" "99" "17" "19566648" "19566648" "subst" "0.000109686" "01596" "ALDH3A2_000012" "g.19566648C>T" "" "{PMID:Willemsen 2001:11408337}" "" "c.943C>T" "" "Germline" "" "" "0" "" "" "g.19663335C>T" "" "pathogenic" "" "0000130459" "3" "79" "17" "19575123" "19575124" "del" "0" "01596" "ALDH3A2_000010" "g.19575123_19575124del" "" "{PMID:Willemsen 2001:11408337}" "" "c.1297_1298delGA" "" "Germline" "" "" "0" "" "" "g.19671810_19671811del" "" "likely pathogenic" "" "0000130460" "3" "79" "17" "19575123" "19575124" "del" "0" "01596" "ALDH3A2_000010" "g.19575123_19575124del" "" "{PMID:Willemsen 2001:11408337}" "" "c.1297_1298delGA" "" "Germline" "" "" "0" "" "" "g.19671810_19671811del" "" "likely pathogenic" "" "0000130461" "0" "99" "17" "19566648" "19566648" "subst" "0.000109686" "01596" "ALDH3A2_000012" "g.19566648C>T" "" "{PMID:Willemsen 2001:11408337}" "" "c.943C>T" "" "Germline" "" "" "0" "" "" "g.19663335C>T" "" "pathogenic" "" "0000130462" "0" "99" "17" "19559758" "19559758" "subst" "2.03032E-5" "01596" "ALDH3A2_000017" "g.19559758C>T" "" "{PMID:Willemsen 2001:11408337}" "" "c.551C>T" "" "Germline" "" "" "0" "" "" "g.19656445C>T" "" "pathogenic" "" "0000130463" "0" "99" "17" "19566648" "19566648" "subst" "0.000109686" "01596" "ALDH3A2_000012" "g.19566648C>T" "" "{PMID:Willemsen 2001:11408337}" "" "c.943C>T" "" "Germline" "" "" "0" "" "" "g.19663335C>T" "" "pathogenic" "" "0000130464" "0" "99" "17" "19559758" "19559758" "subst" "2.03032E-5" "01596" "ALDH3A2_000017" "g.19559758C>T" "" "{PMID:Willemsen 2001:11408337}" "" "c.551C>T" "" "Germline" "" "" "0" "" "" "g.19656445C>T" "" "pathogenic" "" "0000130465" "3" "79" "17" "19561044" "19561044" "subst" "4.06428E-6" "01596" "ALDH3A2_000018" "g.19561044T>C" "" "{PMID:Burgueno-Montanés 2014:24377952}" "" "c.681-14T>C" "" "Germline" "" "" "0" "" "" "g.19657731T>C" "" "likely pathogenic" "" "0000130466" "3" "79" "17" "19564476" "19564476" "subst" "0" "01596" "ALDH3A2_000019" "g.19564476T>A" "" "{PMID:Incecik 2013:24101836}, {DOI:Incecik 2013:10.4103/0972-2327.116927}" "" "c.835T>A" "" "Germline" "" "" "0" "" "" "g.19661163T>A" "" "likely pathogenic" "" "0000130467" "3" "79" "17" "19564476" "19564476" "subst" "0" "01596" "ALDH3A2_000019" "g.19564476T>A" "" "{PMID:Incecik 2013:24101836}, {DOI:Incecik 2013:10.4103/0972-2327.116927}" "" "c.835T>A" "" "Germline" "" "" "0" "" "" "g.19661163T>A" "" "likely pathogenic" "" "0000130468" "3" "79" "17" "19568292" "19568292" "subst" "0" "01596" "ALDH3A2_000020" "g.19568292G>A" "" "{PMID:Yis 2012:22397046}" "" "AGT>AAT in codon 380" "" "Germline" "" "" "0" "" "" "g.19664979G>A" "" "likely pathogenic" "" "0000130469" "3" "79" "17" "19561060" "19561060" "subst" "0" "01596" "ALDH3A2_000021" "g.19561060G>A" "" "{PMID:Yis 2012:22397046}" "" "CGC>CAC in codon 228" "" "Germline" "" "" "0" "" "" "g.19657747G>A" "" "likely pathogenic" "" "0000130470" "0" "99" "17" "19575165" "19575165" "subst" "4.06072E-6" "01596" "ALDH3A2_000022" "g.19575165A>G" "" "{PMID:Tachibana 2012:21713441}, {DOI:Tachibana 2012:10.1007/s00247-011-2156-6}" "" "c.1339A>G" "" "Germline" "" "" "0" "" "" "g.19671852A>G" "" "pathogenic" "" "0000130471" "0" "79" "17" "19559710" "19559711" "dup" "0" "01596" "ALDH3A2_000023" "g.19559710_19559711dup" "" "{PMID:Tachibana 2012:21713441}, {DOI:Tachibana 2012:10.1007/s00247-011-2156-6}" "" "c.504_505insAG" "" "Germline" "" "" "0" "" "" "g.19656397_19656398dup" "" "likely pathogenic" "" "0000130472" "3" "99" "17" "19446121" "19798461" "del" "0" "01596" "ALDH3A2_000024" "g.19446121_19798461del" "" "{PMID:Engelstad 2011:21684788}, {DOI:Engelstad 2011:10.1016/j.ymgme.2011.05.015}" "" "\"deletion breakpoints at nucleotide 19446110 and 19798450\"" "large deletion (352 kb) including complete ALDH3A2-gene and ALDH3A1, ULK2, SLC47A1, SLC47A2" "Germline" "" "" "0" "" "" "g.19542808_19895148del" "" "pathogenic" "" "0000130473" "11" "79" "17" "18716455" "20160197" "del" "0" "01596" "ALDH3A2_000025" "g.18716455_20160197del" "" "{PMID:Engelstad 2011:21684788}, {DOI:Engelstad 2011:10.1016/j.ymgme.2011.05.015}" "" "deletion of 17p11.2 [chr17:18716455-20160197] in NCBI36/hg18" "1,44 Mb interstitial deletion that spans 15 genes" "Germline" "" "" "0" "" "" "g.18813142_20256884del" "" "likely pathogenic" "" "0000130474" "21" "79" "17" "19555881" "19555881" "subst" "0" "01596" "ALDH3A2_000026" "g.19555881C>T" "" "{PMID:Engelstad 2011:21684788}, {DOI:Engelstad 2011:10.1016/j.ymgme.2011.05.015}" "" "c.407C>T" "" "Germline" "" "" "0" "" "" "g.19652568C>T" "" "likely pathogenic" "" "0000130475" "3" "79" "17" "19552426" "19552426" "subst" "0" "01596" "ALDH3A2_000027" "g.19552426G>T" "" "{PMID:Sakai 2010:20883264}" "" "c.142G>T" "aspartic acid residue highly conserved among many members of ALDH family" "Germline" "" "" "0" "" "" "g.19649113G>T" "" "likely pathogenic" "" "0000130476" "3" "79" "17" "19552426" "19552426" "subst" "0" "01596" "ALDH3A2_000027" "g.19552426G>T" "" "{PMID:Sakai 2010:20883264}" "" "c.142G>T" "" "Germline" "" "" "0" "" "" "g.19649113G>T" "" "likely pathogenic" "" "0000130477" "3" "99" "17" "19561176" "19561180" "del" "0" "01596" "ALDH3A2_000106" "g.19561176_19561180del" "" "{PMID:Carney 2004:15241804}, {DOI:Carney 2004:10.1002/humu.9262}, {PMID:Rizzo 2010:20049467}, {DOI:Rizzo 2010:10.1007/s00403-009-1022-y}" "" "798+1_798+6del" "variant near splice site, descriptions corrected after consultation with author" "Germline" "" "" "0" "" "" "g.19657863_19657867del" "" "pathogenic" "" "0000130478" "3" "99" "17" "19561180" "19561181" "del" "0" "01596" "ALDH3A2_000028" "g.19561180_19561181del" "" "{PMID:Rizzo 2010:20049467}, {DOI:Rizzo 2010:10.1007/s00403-009-1022-y}" "" "c.798+5_798+6del" "mutation near splice site" "Germline" "" "" "0" "" "" "g.19657867_19657868del" "" "pathogenic" "" "0000130479" "3" "99" "17" "19561180" "19561180" "subst" "0" "01596" "ALDH3A2_000029" "g.19561180G>A" "" "{PMID:Rizzo 2010:20049467}, {DOI:Rizzo 2010:10.1007/s00403-009-1022-y}" "" "c.798+5G>A" "mutation near splice site" "Germline" "" "" "0" "" "" "g.19657867G>A" "" "pathogenic" "" "0000130480" "3" "99" "17" "19561176" "19561176" "del" "0" "01596" "ALDH3A2_000030" "g.19561176del" "" "{PMID:Rizzo 2010:20049467}, {DOI:Rizzo 2010:10.1007/s00403-009-1022-y}" "" "c.798+1delG" "mutation near splice site" "Germline" "" "" "0" "" "" "g.19657863del" "" "pathogenic" "" "0000130481" "3" "99" "17" "19561087" "19561087" "subst" "0" "01596" "ALDH3A2_000031" "g.19561087G>A" "" "{PMID:Rizzo 2010:20049467}, {DOI:Rizzo 2010:10.1007/s00403-009-1022-y}" "" "c.710G>A" "" "Germline" "" "" "0" "" "" "g.19657774G>A" "" "pathogenic" "" "0000130482" "3" "99" "17" "19575123" "19575124" "del" "0" "01596" "ALDH3A2_000010" "g.19575123_19575124del" "" "{PMID:Rizzo 2010:20049467}, {DOI:Rizzo 2010:10.1007/s00403-009-1022-y}" "" "c.1297_1298delGA" "" "Germline" "" "" "0" "" "" "g.19671810_19671811del" "" "pathogenic" "" "0000130484" "3" "99" "17" "19575123" "19575124" "del" "0" "01596" "ALDH3A2_000010" "g.19575123_19575124del" "" "{PMID:Rizzo 2010:20049467}, {DOI:Rizzo 2010:10.1007/s00403-009-1022-y}" "" "c.1297_1298delGA" "" "Germline" "" "" "0" "" "" "g.19671810_19671811del" "" "pathogenic" "" "0000130485" "3" "99" "17" "19561087" "19561087" "subst" "0" "01596" "ALDH3A2_000031" "g.19561087G>A" "" "{PMID:Rizzo 2010:20049467}, {DOI:Rizzo 2010:10.1007/s00403-009-1022-y}" "" "c.710G>A" "" "Germline" "" "" "0" "" "" "g.19657774G>A" "" "pathogenic" "" "0000130486" "3" "99" "17" "19566648" "19566648" "subst" "0.000109686" "01596" "ALDH3A2_000012" "g.19566648C>T" "" "{PMID:Ganemo 2009:19197545}, {DOI:Ganemo 2009:10.2340/00015555-0561}" "" "C943T" "\"common North Swedish mutation\"\r\neffect on protein function according to: De Laurenzi, 1997, PMID 9204959" "Germline" "" "" "0" "" "" "g.19663335C>T" "" "pathogenic" "" "0000130487" "3" "99" "17" "19566648" "19566648" "subst" "0.000109686" "01596" "ALDH3A2_000012" "g.19566648C>T" "" "{PMID:Ganemo 2009:19197545}, {DOI:Ganemo 2009:10.2340/00015555-0561}" "" "C943T" "\"common North Swedish mutation\" effect on protein function according to: De Laurenzi, 1997, PMID 9204959" "Germline" "" "" "0" "" "" "g.19663335C>T" "" "pathogenic" "" "0000130488" "3" "99" "17" "19566648" "19566648" "subst" "0.000109686" "01596" "ALDH3A2_000012" "g.19566648C>T" "" "{PMID:Ganemo 2009:19197545}, {DOI:Ganemo 2009:10.2340/00015555-0561}" "" "C943T" "\"common North Swedish mutation\"\r\neffect on protein function according to: De Laurenzi, 1997, PMID 9204959" "Germline" "" "" "0" "" "" "g.19663335C>T" "" "pathogenic" "" "0000130489" "3" "99" "17" "19566648" "19566648" "subst" "0.000109686" "01596" "ALDH3A2_000012" "g.19566648C>T" "" "{PMID:Ganemo 2009:19197545}, {DOI:Ganemo 2009:10.2340/00015555-0561}" "" "C943T" "\"common North Swedish mutation\" effect on protein function according to: De Laurenzi, 1997, PMID 9204959" "Germline" "" "" "0" "" "" "g.19663335C>T" "" "pathogenic" "" "0000130490" "3" "99" "17" "19566648" "19566648" "subst" "0.000109686" "01596" "ALDH3A2_000012" "g.19566648C>T" "" "{PMID:Ganemo 2009:19197545}, {DOI:Ganemo 2009:10.2340/00015555-0561}" "" "C943T" "\"common North Swedish mutation\"\r\neffect on protein function according to: De Laurenzi, 1997, PMID 9204959" "Germline" "" "" "0" "" "" "g.19663335C>T" "" "pathogenic" "" "0000130491" "3" "99" "17" "19566648" "19566648" "subst" "0.000109686" "01596" "ALDH3A2_000012" "g.19566648C>T" "" "{PMID:Ganemo 2009:19197545}, {DOI:Ganemo 2009:10.2340/00015555-0561}PMID:Ganemo 2009:19197545}, {DOI:Ganemo 2009:10.2340/00015555-0561}" "" "C943T" "\"common North Swedish mutation\"\r\neffect on protein function according to: De Laurenzi, 1997, PMID 9204959" "Germline" "" "" "0" "" "" "g.19663335C>T" "" "pathogenic" "" "0000130492" "3" "99" "17" "19566648" "19566648" "subst" "0.000109686" "01596" "ALDH3A2_000012" "g.19566648C>T" "" "{PMID:Ganemo 2009:19197545}, {DOI:Ganemo 2009:10.2340/00015555-0561}" "" "C943T" "\"common North Swedish mutation\"\r\neffect on protein function according to: De Laurenzi, 1997, PMID 9204959" "Germline" "" "" "0" "" "" "g.19663335C>T" "" "pathogenic" "" "0000130493" "3" "99" "17" "19566648" "19566648" "subst" "0.000109686" "01596" "ALDH3A2_000012" "g.19566648C>T" "" "{PMID:Ganemo 2009:19197545}, {DOI:Ganemo 2009:10.2340/00015555-0561}" "" "C943T" "\"common North Swedish mutation\" effect on protein function according to: De Laurenzi, 1997, PMID 9204959" "Germline" "" "" "0" "" "" "g.19663335C>T" "" "pathogenic" "" "0000130494" "3" "99" "17" "19566648" "19566648" "subst" "0.000109686" "01596" "ALDH3A2_000012" "g.19566648C>T" "" "{PMID:Ganemo 2009:19197545}, {DOI:Ganemo 2009:10.2340/00015555-0561}" "" "C943T" "\"common North Swedish mutation\"\r\neffect on protein function according to: De Laurenzi, 1997, PMID 9204959" "Germline" "" "" "0" "" "" "g.19663335C>T" "" "pathogenic" "" "0000130495" "3" "99" "17" "19566648" "19566648" "subst" "0.000109686" "01596" "ALDH3A2_000012" "g.19566648C>T" "" "{PMID:Ganemo 2009:19197545}, {DOI:Ganemo 2009:10.2340/00015555-0561}" "" "C943T" "\"common North Swedish mutation\"\r\neffect on protein function according to: De Laurenzi, 1997, PMID 9204959" "Germline" "" "" "0" "" "" "g.19663335C>T" "" "pathogenic" "" "0000130496" "3" "99" "17" "19566648" "19566648" "subst" "0.000109686" "01596" "ALDH3A2_000012" "g.19566648C>T" "" "{PMID:Ganemo 2009:19197545}, {DOI:Ganemo 2009:10.2340/00015555-0561}" "" "C943T" "\"common North Swedish mutation\"\r\neffect on protein function according to: De Laurenzi, 1997, PMID 9204959" "Germline" "" "" "0" "" "" "g.19663335C>T" "" "pathogenic" "" "0000130497" "3" "99" "17" "19566648" "19566648" "subst" "0.000109686" "01596" "ALDH3A2_000012" "g.19566648C>T" "" "{PMID:Ganemo 2009:19197545}, {DOI:Ganemo 2009:10.2340/00015555-0561}" "" "C943T" "\"common North Swedish mutation\"\r\neffect on protein function according to: De Laurenzi, 1997, PMID 9204959" "Germline" "" "" "0" "" "" "g.19663335C>T" "" "pathogenic" "" "0000130498" "3" "99" "17" "19566648" "19566648" "subst" "0.000109686" "01596" "ALDH3A2_000012" "g.19566648C>T" "" "{PMID:Ganemo 2009:19197545}, {DOI:Ganemo 2009:10.2340/00015555-0561}" "" "C943T" "\"common North Swedish mutation\"\r\neffect on protein function according to: De Laurenzi, 1997, PMID 9204959" "Germline" "" "" "0" "" "" "g.19663335C>T" "" "pathogenic" "" "0000130499" "3" "99" "17" "19566648" "19566648" "subst" "0.000109686" "01596" "ALDH3A2_000012" "g.19566648C>T" "" "{PMID:Ganemo 2009:19197545}, {DOI:Ganemo 2009:10.2340/00015555-0561}" "" "C943T" "\"common North Swedish mutation\"\r\neffect on protein function according to: De Laurenzi, 1997, PMID 9204959" "Germline" "" "" "0" "" "" "g.19663335C>T" "" "pathogenic" "" "0000130500" "3" "99" "17" "19566648" "19566648" "subst" "0.000109686" "01596" "ALDH3A2_000012" "g.19566648C>T" "" "{PMID:Ganemo 2009:19197545}, {DOI:Ganemo 2009:10.2340/00015555-0561}" "" "C943T" "\"common North Swedish mutation\"\r\neffect on protein function according to: De Laurenzi, 1997, PMID 9204959" "Germline" "" "" "0" "" "" "g.19663335C>T" "" "pathogenic" "" "0000130501" "3" "99" "17" "19566648" "19566648" "subst" "0.000109686" "01596" "ALDH3A2_000012" "g.19566648C>T" "" "{PMID:Ganemo 2009:19197545}, {DOI:Ganemo 2009:10.2340/00015555-0561}" "" "C943T" "\"common North Swedish mutation\" effect on protein function according to: De Laurenzi, 1997, PMID 9204959" "Germline" "" "" "0" "" "" "g.19663335C>T" "" "pathogenic" "" "0000130502" "3" "99" "17" "19566648" "19566648" "subst" "0.000109686" "01596" "ALDH3A2_000012" "g.19566648C>T" "" "{PMID:Ganemo 2009:19197545}, {DOI:Ganemo 2009:10.2340/00015555-0561}" "" "C943T" "\"common North Swedish mutation\" effect on protein function according to: De Laurenzi, 1997, PMID 9204959" "Germline" "" "" "0" "" "" "g.19663335C>T" "" "pathogenic" "" "0000130503" "3" "99" "17" "19566648" "19566648" "subst" "0.000109686" "01596" "ALDH3A2_000012" "g.19566648C>T" "" "{PMID:Ganemo 2009:19197545}, {DOI:Ganemo 2009:10.2340/00015555-0561}" "" "C943T" "\"common North Swedish mutation\" effect on protein function according to: De Laurenzi, 1997, PMID 9204959" "Germline" "" "" "0" "" "" "g.19663335C>T" "" "pathogenic" "" "0000130505" "3" "99" "17" "19566648" "19566648" "subst" "0.000109686" "01596" "ALDH3A2_000012" "g.19566648C>T" "" "{PMID:Ganemo 2009:19197545}, {DOI:Ganemo 2009:10.2340/00015555-0561}" "" "C943T" "\"common North Swedish mutation\" effect on protein function according to: De Laurenzi, 1997, PMID 9204959" "Germline" "" "" "0" "" "" "g.19663335C>T" "" "pathogenic" "" "0000130506" "3" "99" "17" "19566648" "19566648" "subst" "0.000109686" "01596" "ALDH3A2_000012" "g.19566648C>T" "" "{PMID:Ganemo 2009:19197545}, {DOI:Ganemo 2009:10.2340/00015555-0561}" "" "C943T" "\"common North Swedish mutation\" effect on protein function according to: De Laurenzi, 1997, PMID 9204959" "Germline" "" "" "0" "" "" "g.19663335C>T" "" "pathogenic" "" "0000130507" "3" "99" "17" "19566648" "19566648" "subst" "0.000109686" "01596" "ALDH3A2_000012" "g.19566648C>T" "" "{PMID:Ganemo 2009:19197545}, {DOI:Ganemo 2009:10.2340/00015555-0561}" "" "C943T" "\"common North Swedish mutation\" effect on protein function according to: De Laurenzi, 1997, PMID 9204959" "Germline" "" "" "0" "" "" "g.19663335C>T" "" "pathogenic" "" "0000130508" "3" "99" "17" "19566648" "19566648" "subst" "0.000109686" "01596" "ALDH3A2_000012" "g.19566648C>T" "" "{PMID:Ganemo 2009:19197545}, {DOI:Ganemo 2009:10.2340/00015555-0561}" "" "C943T" "\"common North Swedish mutation\" effect on protein function according to: De Laurenzi, 1997, PMID 9204959" "Germline" "" "" "0" "" "" "g.19663335C>T" "" "pathogenic" "" "0000130509" "3" "99" "17" "19566648" "19566648" "subst" "0.000109686" "01596" "ALDH3A2_000012" "g.19566648C>T" "" "{PMID:Ganemo 2009:19197545}, {DOI:Ganemo 2009:10.2340/00015555-0561}" "" "C943T" "\"common North Swedish mutation\"\r\neffect on protein function according to: De Laurenzi, 1997, PMID 9204959" "Germline" "" "" "0" "" "" "g.19663335C>T" "" "pathogenic" "" "0000130510" "3" "99" "17" "19566648" "19566648" "subst" "0.000109686" "01596" "ALDH3A2_000012" "g.19566648C>T" "" "{PMID:Ganemo 2009:19197545}, {DOI:Ganemo 2009:10.2340/00015555-0561}" "" "C943T" "\"common North Swedish mutation\"\r\neffect on protein function according to: De Laurenzi, 1997, PMID 9204959" "Germline" "" "" "0" "" "" "g.19663335C>T" "" "pathogenic" "" "0000130514" "3" "79" "17" "19561146" "19561146" "dup" "0" "01596" "ALDH3A2_000032" "g.19561146dup" "" "{PMID:Didona 2007:17902024}, {DOI:Didona 2007:10.1007/s10038-007-0180-z}" "" "c.769insA (?)" "mutation gives rise to severely truncated protein" "Germline" "" "" "0" "" "" "g.19657833dup" "" "likely pathogenic" "" "0000130515" "11" "99" "17" "19566799" "19566799" "subst" "0" "01596" "ALDH3A2_000033" "g.19566799C>T" "" "{PMID:Didona 2007:17902024}, {DOI:Didona 2007:10.1007/s10038-007-0180-z}" "" "c.1094C>T" "" "Germline" "" "" "0" "" "" "g.19663486C>T" "" "pathogenic" "" "0000130516" "21" "99" "17" "19555947" "19555947" "subst" "0" "01596" "ALDH3A2_000034" "g.19555947T>G" "" "{PMID:Didona 2007:17902024}, {DOI:Didona 2007:10.1007/s10038-007-0180-z}" "" "c.471+2T>G" "splice site mutation (involves donor splice site of exon 3, GT>GG);\r\ncauses skipping of exons 2 and 3" "Germline" "" "" "0" "" "" "g.19652634T>G" "" "pathogenic" "" "0000130519" "11" "79" "17" "19555038" "19555038" "subst" "0" "01596" "ALDH3A2_000035" "g.19555038G>A" "" "{PMID:Sakai 2006:16794583}" "" "332G>A" "truncated protein (about 80% loss of length of FALDH polypeptide)" "Germline" "" "" "0" "" "" "g.19651725G>A" "" "likely pathogenic" "" "0000130520" "21" "79" "17" "19559843" "19559843" "subst" "0" "01596" "ALDH3A2_000036" "g.19559843T>G" "" "{PMID:Sakai 2006:16794583}" "" "636T>G" "affected serine residue at codon 212 is conserved among several species" "Germline" "" "" "0" "" "" "g.19656530T>G" "" "likely pathogenic" "" "0000130521" "3" "99" "17" "19568260" "19568260" "subst" "4.06448E-6" "01596" "ALDH3A2_000037" "g.19568260G>C" "" "{PMID:Auada 2006:16536828}, {DOI:Auada 2006:10.1111/j.1365-2133.2006.07135.x}" "" "c.1108-1G>C" "mutation affects splice acceptor site at junction of intron 7 and exon 8" "Germline" "" "" "0" "" "" "g.19664947G>C" "" "pathogenic" "" "0000130522" "3" "99" "17" "19568260" "19568260" "subst" "4.06448E-6" "01596" "ALDH3A2_000037" "g.19568260G>C" "" "{PMID:Auada 2006:16536828}, {DOI:Auada 2006:10.1111/j.1365-2133.2006.07135.x}" "" "c.1108-1G>C" "mutation affects splice acceptor site at junction of intron 7 and exon 8" "Germline" "" "" "0" "" "" "g.19664947G>C" "" "pathogenic" "" "0000130523" "3" "99" "17" "19568260" "19568260" "subst" "4.06448E-6" "01596" "ALDH3A2_000037" "g.19568260G>C" "" "{PMID:Auada 2006:16536828}, {DOI:Auada 2006:10.1111/j.1365-2133.2006.07135.x}" "" "c.1108-1G>C" "mutation affects splice acceptor site at junction of intron 7 and exon 8" "Germline" "" "" "0" "" "" "g.19664947G>C" "" "pathogenic" "" "0000130524" "3" "99" "17" "19568260" "19568260" "subst" "4.06448E-6" "01596" "ALDH3A2_000037" "g.19568260G>C" "" "{PMID:Auada 2006:16536828}, {DOI:Auada 2006:10.1111/j.1365-2133.2006.07135.x}" "" "" "mutation affects splice acceptor site at junction of intron 7 and exon 8" "Germline" "" "" "0" "" "" "g.19664947G>C" "" "pathogenic" "" "0000130526" "3" "99" "17" "19568260" "19568260" "subst" "4.06448E-6" "01596" "ALDH3A2_000037" "g.19568260G>C" "" "{PMID:Auada 2006:16536828}, {DOI:Auada 2006:10.1111/j.1365-2133.2006.07135.x}" "" "c.1108-1G>C" "mutation affects splice acceptor site at junction of intron 7 and exon 8" "Germline" "" "" "0" "" "" "g.19664947G>C" "" "pathogenic" "" "0000130527" "3" "99" "17" "19568260" "19568260" "subst" "4.06448E-6" "01596" "ALDH3A2_000037" "g.19568260G>C" "" "{PMID:Auada 2006:16536828}, {DOI:Auada 2006:10.1111/j.1365-2133.2006.07135.x}" "" "c.1108-1G>C" "mutation affects splice acceptor site at junction of intron 7 and exon 8" "Germline" "" "" "0" "" "" "g.19664947G>C" "" "pathogenic" "" "0000130528" "3" "99" "17" "19568260" "19568260" "subst" "4.06448E-6" "01596" "ALDH3A2_000037" "g.19568260G>C" "" "{PMID:Auada 2006:16536828}, {DOI:Auada 2006:10.1111/j.1365-2133.2006.07135.x}" "" "c.1108-1G>C" "mutation affects splice acceptor site at junction of intron 7 and exon 8" "Germline" "" "" "0" "" "" "g.19664947G>C" "" "pathogenic" "" "0000130529" "3" "99" "17" "19568260" "19568260" "subst" "4.06448E-6" "01596" "ALDH3A2_000037" "g.19568260G>C" "" "{PMID:Auada 2006:16536828}, {DOI:Auada 2006:10.1111/j.1365-2133.2006.07135.x}" "" "c.1108-1G>C" "mutation affects splice acceptor site at junction of intron 7 and exon 8" "Germline" "" "" "0" "" "" "g.19664947G>C" "" "pathogenic" "" "0000130530" "3" "99" "17" "19568260" "19568260" "subst" "4.06448E-6" "01596" "ALDH3A2_000037" "g.19568260G>C" "" "{PMID:Auada 2006:16536828}, {DOI:Auada 2006:10.1111/j.1365-2133.2006.07135.x}" "" "c.1108-1G>C" "mutation affects splice acceptor site at junction of intron 7 and exon 8" "Germline" "" "" "0" "" "" "g.19664947G>C" "" "pathogenic" "" "0000130534" "3" "99" "17" "19561059" "19561059" "subst" "1.62456E-5" "01596" "ALDH3A2_000038" "g.19561059C>T" "" "{PMID:Lossos 2006:16476818}, {DOI:Lossos 2006:10.1001/archneur.63.2.278}" "" "c.682C>T" "" "Germline" "" "" "0" "" "" "g.19657746C>T" "" "pathogenic" "" "0000130535" "3" "99" "17" "19561059" "19561059" "subst" "1.62456E-5" "01596" "ALDH3A2_000038" "g.19561059C>T" "" "{PMID:Lossos 2006:16476818}, {DOI:Lossos 2006:10.1001/archneur.63.2.278}" "" "c.682C>T" "" "Germline" "" "" "0" "" "" "g.19657746C>T" "" "pathogenic" "" "0000130536" "3" "99" "17" "19561059" "19561059" "subst" "1.62456E-5" "01596" "ALDH3A2_000038" "g.19561059C>T" "" "{PMID:Lossos 2006:16476818}, {DOI:Lossos 2006:10.1001/archneur.63.2.278}" "" "c.682C>T" "" "Germline" "" "" "0" "" "" "g.19657746C>T" "" "pathogenic" "" "0000130537" "3" "99" "17" "19561059" "19561059" "subst" "1.62456E-5" "01596" "ALDH3A2_000038" "g.19561059C>T" "" "{PMID:Lossos 2006:16476818}, {DOI:Lossos 2006:10.1001/archneur.63.2.278}" "" "c.682C>T" "" "Germline" "" "" "0" "" "" "g.19657746C>T" "" "pathogenic" "" "0000130538" "3" "99" "17" "19561059" "19561059" "subst" "1.62456E-5" "01596" "ALDH3A2_000038" "g.19561059C>T" "" "{PMID:Lossos 2006:16476818}, {DOI:Lossos 2006:10.1001/archneur.63.2.278}" "" "c.682C>T" "" "Germline" "" "" "0" "" "" "g.19657746C>T" "" "pathogenic" "" "0000130539" "3" "99" "17" "19561059" "19561059" "subst" "1.62456E-5" "01596" "ALDH3A2_000038" "g.19561059C>T" "" "{PMID:Lossos 2006:16476818}, {DOI:Lossos 2006:10.1001/archneur.63.2.278}" "" "c.682C>T" "" "Germline" "" "" "0" "" "" "g.19657746C>T" "" "pathogenic" "" "0000130540" "21" "79" "17" "19559688" "19559688" "del" "0" "01596" "ALDH3A2_000039" "g.19559688del" "" "{PMID:Shibaki 2004:15610535}, {DOI:Shibaki 2004:10.1111/j.0022-202X.2004.23505.x}" "" "481delA" "" "Germline" "" "" "0" "" "" "g.19656375del" "" "likely pathogenic" "" "0000130541" "11" "79" "17" "19566792" "19566794" "del" "0" "01596" "ALDH3A2_000040" "g.19566792_19566794del" "" "{PMID:Shibaki 2004:15610535}, {DOI:Shibaki 2004:10.1111/j.0022-202X.2004.23505.x}" "" "c.1087-1089delGTA" "valine residue at position 363 highly conserved among many ALDH family members" "Germline" "" "" "0" "" "" "g.19663479_19663481del" "" "likely pathogenic" "" "0000130542" "21" "79" "17" "19559688" "19559688" "del" "0" "01596" "ALDH3A2_000039" "g.19559688del" "" "{PMID:Shibaki 2004:15610535}, {DOI:Shibaki 2004:10.1111/j.0022-202X.2004.23505.x}" "" "481delA" "" "Germline" "" "" "0" "" "" "g.19656375del" "" "likely pathogenic" "" "0000130543" "11" "79" "17" "19566792" "19566794" "del" "0" "01596" "ALDH3A2_000040" "g.19566792_19566794del" "" "{PMID:Shibaki 2004:15610535}, {DOI:Shibaki 2004:10.1111/j.0022-202X.2004.23505.x}" "" "c.1087-1089delGTA" "valine residue at position 363 highly conserved among many ALDH family members" "Germline" "" "" "0" "" "" "g.19663479_19663481del" "" "likely pathogenic" "" "0000130544" "0" "99" "17" "19554992" "19555002" "del" "0" "01596" "ALDH3A2_000041" "g.19554992_19555002del" "" "{PMID:Carney 2004:15241804}, {DOI:Carney 2004:10.1002/humu.9262}" "" "c.286_296del" "" "Germline" "" "" "0" "" "" "g.19651679_19651689del" "" "pathogenic" "" "0000130545" "0" "99" "17" "19575094" "19575094" "subst" "8.12216E-6" "01596" "ALDH3A2_000042" "g.19575094G>A" "" "{PMID:Carney 2004:15241804}, {DOI:Carney 2004:10.1002/humu.9262}" "" "c.1268G>A" "" "Germline" "" "" "0" "" "" "g.19671781G>A" "" "pathogenic" "" "0000130546" "3" "99" "17" "19575049" "19575049" "del" "0" "01596" "ALDH3A2_000043" "g.19575049del" "" "{PMID:Carney 2004:15241804}, {DOI:Carney 2004:10.1002/humu.9262}" "" "c.1223delG" "Frameshift at codon 408; Stop at codon 427 -> Truncation\r\nAssociated with haplotype 1 (referred to 4 defined haplotypes, constructed using SNPs, for details see paper)" "Germline" "" "" "0" "" "" "g.19671736del" "" "pathogenic" "" "0000130547" "3" "99" "17" "19559758" "19559758" "subst" "0" "01596" "ALDH3A2_000044" "g.19559758C>G" "" "{PMID:Carney 2004:15241804}, {DOI:Carney 2004:10.1002/humu.9262}" "" "c.551G>C (??)" "??" "Germline" "" "" "0" "" "" "g.19656445C>G" "" "pathogenic" "" "0000130548" "3" "99" "17" "19566647" "19566649" "del" "0" "01596" "ALDH3A2_000045" "g.19566647_19566649del" "" "{PMID:Carney 2004:15241804}, {DOI:Carney 2004:10.1002/humu.9262}" "" "c.941_943del+ins (??)" "?\r\nc.941_943del+ins is not a valid HGVS syntax!\r\nprobably the 941_943delinsGGGCTAAAAGTACTGTTGGGG mutation is meant here?" "Germline" "" "" "0" "" "" "g.19663334_19663336del" "" "pathogenic" "" "0000130549" "0" "99" "17" "19559736" "19559736" "subst" "5.68491E-5" "01596" "ALDH3A2_000046" "g.19559736C>T" "" "{PMID:Carney 2004:15241804}, {DOI:Carney 2004:10.1002/humu.9262}" "" "c.529C>T" "Associated with haplotype 2 (referred to 4 defined haplotypes, constructed using SNPs, for details see paper)" "Germline" "" "" "0" "" "" "g.19656423C>T" "" "pathogenic" "" "0000130550" "0" "99" "17" "19555080" "19555084" "del" "0" "01596" "ALDH3A2_000047" "g.19555080_19555084del" "" "{PMID:Carney 2004:15241804}, {DOI:Carney 2004:10.1002/humu.9262}" "" "c.374_378del" "" "Germline" "" "" "0" "" "" "g.19651767_19651771del" "" "pathogenic" "" "0000130551" "3" "99" "17" "19568260" "19568260" "subst" "4.06448E-6" "01596" "ALDH3A2_000037" "g.19568260G>C" "" "{PMID:Carney 2004:15241804}, {DOI:Carney 2004:10.1002/humu.9262}" "" "c.1108-1G>C" "splice site mutation" "Germline" "" "" "0" "" "" "g.19664947G>C" "" "pathogenic" "" "0000130552" "0" "99" "17" "19575076" "19575091" "dup" "0" "01596" "ALDH3A2_000048" "g.19575076_19575091dup" "" "{PMID:Carney 2004:15241804}, {DOI:Carney 2004:10.1002/humu.9262}" "" "c.1250_1265dup" "frameshift->stop->truncation;\r\nAssociated with haplotype 1 (referred to 4 defined haplotypes, constructed using SNPs, for details see paper)" "Germline" "" "" "0" "" "" "g.19671763_19671778dup" "" "pathogenic" "" "0000130553" "0" "99" "17" "19568260" "19568260" "subst" "4.06448E-6" "01596" "ALDH3A2_000037" "g.19568260G>C" "" "{PMID:Carney 2004:15241804}, {DOI:Carney 2004:10.1002/humu.9262}" "" "c.1108-1G>C" "splice site mutation" "Germline" "" "" "0" "" "" "g.19664947G>C" "" "pathogenic" "" "0000130554" "3" "99" "17" "19575049" "19575049" "dup" "0" "01596" "ALDH3A2_000049" "g.19575049dup" "" "{PMID:Carney 2004:15241804}, {DOI:Carney 2004:10.1002/humu.9262}" "" "c.1223_1224insG" "frameshift->stop->truncation;\r\nAssociated with haplotype 4 (referred to 4 defined haplotypes, constructed using SNPs, for details see paper)" "Germline" "" "" "0" "" "" "g.19671736dup" "" "pathogenic" "" "0000130555" "3" "99" "17" "19566814" "19566814" "subst" "0" "01596" "ALDH3A2_000050" "g.19566814T>G" "" "{PMID:Carney 2004:15241804}, {DOI:Carney 2004:10.1002/humu.9262}" "" "c.1107+2T>G" "splice site mutation;\r\nAssociated with haplotype 3 (referred to 4 defined haplotypes, constructed using SNPs, for details see paper)" "Germline" "" "" "0" "" "" "g.19663501T>G" "" "pathogenic" "" "0000130556" "3" "99" "17" "19568292" "19568292" "subst" "0" "01596" "ALDH3A2_000020" "g.19568292G>A" "" "{PMID:Carney 2004:15241804}, {DOI:Carney 2004:10.1002/humu.9262}" "" "c.1139G>A" "Associated with haplotype 3 (referred to 4 defined haplotypes, constructed using SNPs, for details see paper)" "Germline" "" "" "0" "" "" "g.19664979G>A" "" "pathogenic" "" "0000130557" "3" "99" "17" "19555005" "19555071" "dup" "0" "01596" "ALDH3A2_000051" "g.19555005_19555071dup" "" "{PMID:Carney 2004:15241804}, {DOI:Carney 2004:10.1002/humu.9262}" "" "c.299_365dup" "Associated with haplotype 2 (referred to 4 defined haplotypes, constructed using SNPs, for details see paper)" "Germline" "" "" "0" "" "" "g.19651692_19651758dup" "" "pathogenic" "" "0000130559" "0" "79" "17" "19575123" "19575124" "del" "0" "01596" "ALDH3A2_000010" "g.19575123_19575124del" "" "{PMID:Cubo 2000:11071513}, {DOI:Cubo 2000:10.1212/WNL.55.8.1236}" "" "c.1297_1298delGA" "" "Germline" "" "" "0" "" "" "g.19671810_19671811del" "" "likely pathogenic" "" "0000130560" "0" "09" "17" "19564476" "19564476" "subst" "0" "01596" "ALDH3A2_000019" "g.19564476T>A" "" "{PMID:Cubo 2000:11071513}, {DOI:Cubo 2000:10.1212/WNL.55.8.1236}" "" "835T>A" "" "Germline" "" "" "0" "" "" "g.19661163T>A" "" "" "" "0000130561" "3" "79" "17" "19568310" "19568310" "subst" "1.62446E-5" "01596" "ALDH3A2_000053" "g.19568310A>G" "" "{PMID:Aoki 2000:10792573}" "" "1157A>G" "" "Germline" "" "" "0" "" "" "g.19664997A>G" "" "likely pathogenic" "" "0000146838" "1" "79" "17" "19575036" "19575271" "del" "0" "01596" "ALDH3A2_000054" "g.19575036_19575271del" "" "{PMID:Kraus 2000:10854114}" "" "del exon 9" "\"out of frame deletion of exon 9, Termination\"" "Germline" "" "" "0" "" "" "g.19671723_19671958del" "" "likely pathogenic" "" "0000146972" "1" "00" "17" "19578873" "19578873" "subst" "0.618864" "01596" "ALDH3A2_000055" "g.19578873A>T" "" "{PMID:Kraus 2000:10854114}" "" "1446A>T" "silent mutation" "Germline" "" "" "0" "" "" "g.19675560A>T" "" "" "" "0000146973" "2" "79" "17" "19561110" "19561110" "subst" "4.06128E-6" "01596" "ALDH3A2_000006" "g.19561110G>A" "" "{PMID:Kraus 2000:10854114}" "" "733G>A" "" "Germline" "" "" "0" "" "" "g.19657797G>A" "" "likely pathogenic" "" "0000146974" "2" "79" "17" "19564542" "19564542" "subst" "0" "01596" "ALDH3A2_000056" "g.19564542G>C" "" "{PMID:Kraus 2000:10854114}" "" "901G>C" "\"only on SLS alleles in combination with c.906delT\"" "Germline" "" "" "0" "" "" "g.19661229G>C" "" "likely pathogenic" "" "0000146975" "2" "79" "17" "19564547" "19564547" "del" "0" "01596" "ALDH3A2_000057" "g.19564547del" "" "{PMID:Kraus 2000:10854114}" "" "906delT" "frameshift, termination" "Germline" "" "" "0" "" "" "g.19661234del" "" "likely pathogenic" "" "0000146976" "1" "79" "17" "19575036" "19575271" "del" "0" "01596" "ALDH3A2_000054" "g.19575036_19575271del" "" "{PMID:Kraus 2000:10854114}" "" "del exon 9" "out of frame deletion of exon 9, Termination (6kb genomic deletion)" "Germline" "" "" "0" "" "" "g.19671723_19671958del" "" "likely pathogenic" "" "0000146977" "1" "00" "17" "19578873" "19578873" "subst" "0.618864" "01596" "ALDH3A2_000055" "g.19578873A>T" "" "{PMID:Kraus 2000:10854114}" "" "1446A>T" "silent mutation" "Germline" "" "" "0" "" "" "g.19675560A>T" "" "" "" "0000146978" "2" "79" "17" "19575036" "19575271" "del" "0" "01596" "ALDH3A2_000054" "g.19575036_19575271del" "" "{PMID:Kraus 2000:10854114}" "" "del exon 9" "out of frame deletion of exon 9, Termination (6kb genomic deletion)" "Germline" "" "" "0" "" "" "g.19671723_19671958del" "" "likely pathogenic" "" "0000146979" "2" "00" "17" "19578873" "19578873" "subst" "0.618864" "01596" "ALDH3A2_000055" "g.19578873A>T" "" "{PMID:Kraus 2000:10854114}" "" "1446A>T" "silent mutation" "Germline" "" "" "0" "" "" "g.19675560A>T" "" "" "" "0000146980" "1" "79" "17" "19575036" "19575271" "del" "0" "01596" "ALDH3A2_000058" "g.19575036_19575271del" "" "{PMID:Kraus 2000:10854114}" "" "del exon 9" "out of frame deletion of exon 9, Termination (6kb genomic deletion)" "Germline" "" "" "0" "" "" "g.19671723_19671958del" "" "likely pathogenic" "" "0000146981" "1" "00" "17" "19578873" "19578873" "subst" "0.618864" "01596" "ALDH3A2_000055" "g.19578873A>T" "" "{PMID:Kraus 2000:10854114}" "" "1446A>T" "silent mutation" "Germline" "" "" "0" "" "" "g.19675560A>T" "" "" "" "0000146982" "2" "79" "17" "19575036" "19575271" "del" "0" "01596" "ALDH3A2_000054" "g.19575036_19575271del" "" "{PMID:Kraus 2000:10854114}" "" "del exon 9" "out of frame deletion of exon 9, Termination (6 kb genomic deletion)" "Germline" "" "" "0" "" "" "g.19671723_19671958del" "" "likely pathogenic" "" "0000146983" "2" "00" "17" "19578873" "19578873" "subst" "0.618864" "01596" "ALDH3A2_000055" "g.19578873A>T" "" "{PMID:Kraus 2000:10854114}" "" "1446A>T" "silent mutation" "Germline" "" "" "0" "" "" "g.19675560A>T" "" "" "" "0000146984" "1" "79" "17" "19555946" "19555946" "del" "0" "01596" "ALDH3A2_000004" "g.19555946del" "" "{PMID:Kraus 2000:10854114}" "" "IVS3+1delG" "splice site Mutation\r\nconsequence: \"del exon 2+3\"" "Germline" "" "" "0" "" "" "g.19652633del" "" "likely pathogenic" "" "0000146985" "2" "79" "17" "19555946" "19555946" "subst" "4.06161E-6" "01596" "ALDH3A2_000059" "g.19555946G>C" "" "{PMID:Kraus 2000:10854114}" "" "IVS3+1G>C" "splice site Mutation\r\nconsequence: \"del exon 2 +3\"" "Germline" "" "" "0" "" "" "g.19652633G>C" "" "likely pathogenic" "" "0000146986" "1" "79" "17" "19575103" "19575103" "subst" "8.12229E-6" "01596" "ALDH3A2_000060" "g.19575103T>G" "" "{PMID:Kraus 2000:10854114}" "" "1277T>G" "termination" "Germline" "" "" "0" "" "" "g.19671790T>G" "" "likely pathogenic" "" "0000146987" "2" "79" "17" "19555093" "19555093" "subst" "0" "01596" "ALDH3A2_000061" "g.19555093T>C" "" "{PMID:Kraus 2000:10854114}" "" "IVS2+2T>C" "splice site Mutation\r\nconsequence: \"out of frame deletion of exon 2; Termination\"" "Germline" "" "" "0" "" "" "g.19651780T>C" "" "likely pathogenic" "" "0000146988" "3" "00" "17" "19561110" "19561110" "subst" "4.06128E-6" "01596" "ALDH3A2_000006" "g.19561110G>A" "" "{PMID:Kraus 2000:10854114}" "" "733G>A" "\"only on SLS alleles in combination with 906delT\"" "Germline" "" "" "0" "" "" "g.19657797G>A" "" "" "" "0000146989" "3" "00" "17" "19564542" "19564542" "subst" "0" "01596" "ALDH3A2_000056" "g.19564542G>C" "" "{PMID:Kraus 2000:10854114}" "" "901G>C" "\"only on SLS alleles in combination with 906delT\"" "Germline" "" "" "0" "" "" "g.19661229G>C" "" "" "" "0000146990" "3" "79" "17" "19564547" "19564547" "del" "0" "01596" "ALDH3A2_000057" "g.19564547del" "" "{PMID:Kraus 2000:10854114}" "" "906delT" "" "Germline" "" "" "0" "" "" "g.19661234del" "" "likely pathogenic" "" "0000146991" "1" "79" "17" "19575123" "19575124" "del" "0" "01596" "ALDH3A2_000010" "g.19575123_19575124del" "" "{PMID:Kraus 2000:10854114}" "" "\"c.1297delGA\" (?)" "" "Germline" "" "" "0" "" "" "g.19671810_19671811del" "" "likely pathogenic" "" "0000146992" "2" "00" "17" "19561110" "19561110" "subst" "4.06128E-6" "01596" "ALDH3A2_000006" "g.19561110G>A" "" "{PMID:Kraus 2000:10854114}" "" "733G>A" "\"only on SLS alleles in combinaton with 906delT\"" "Germline" "" "" "0" "" "" "g.19657797G>A" "" "" "" "0000146993" "2" "00" "17" "19564542" "19564542" "subst" "0" "01596" "ALDH3A2_000056" "g.19564542G>C" "" "{PMID:Kraus 2000:10854114}" "" "901G>C" "\"Only on SLS alleles in combination with 906delT\"" "Germline" "" "" "0" "" "" "g.19661229G>C" "" "" "" "0000146994" "2" "79" "17" "19564547" "19564547" "del" "0" "01596" "ALDH3A2_000057" "g.19564547del" "" "{PMID:Kraus 2000:10854114}" "" "906delT" "" "Germline" "" "" "0" "" "" "g.19661234del" "" "likely pathogenic" "" "0000146995" "1" "79" "17" "19575123" "19575124" "del" "0" "01596" "ALDH3A2_000010" "g.19575123_19575124del" "" "{PMID:Kraus 2000:10854114}" "" "\"1297delGA\" (?)" "" "Germline" "" "" "0" "" "" "g.19671810_19671811del" "" "likely pathogenic" "" "0000146996" "2" "79" "17" "19564476" "19564476" "subst" "0" "01596" "ALDH3A2_000019" "g.19564476T>A" "" "{PMID:Kraus 2000:10854114}" "" "835T>A" "" "Germline" "" "" "0" "" "" "g.19661163T>A" "" "likely pathogenic" "" "0000146999" "3" "79" "17" "19561087" "19561087" "subst" "0" "01596" "ALDH3A2_000031" "g.19561087G>A" "" "{PMID:Alio 2006:16903323}" "" "C237Y" "" "Germline" "" "" "0" "" "" "g.19657774G>A" "" "likely pathogenic" "" "0000147000" "21" "79" "17" "19568310" "19568310" "subst" "1.62446E-5" "01596" "ALDH3A2_000053" "g.19568310A>G" "" "{PMID:Takeichi 2013:23450279}" "" "" "" "Germline" "" "" "0" "" "" "g.19664997A>G" "" "likely pathogenic" "" "0000147001" "11" "79" "17" "19575117" "19575118" "del" "0" "01596" "ALDH3A2_000062" "g.19575117_19575118del" "" "{PMID:Takeichi 2013:23450279}" "" "" "" "Germline" "" "" "0" "" "" "g.19671804_19671805del" "" "likely pathogenic" "" "0000147002" "21" "79" "17" "19568310" "19568310" "subst" "1.62446E-5" "01596" "ALDH3A2_000053" "g.19568310A>G" "" "{PMID:Takeichi 2013:23450279}" "" "" "" "Germline" "" "" "0" "" "" "g.19664997A>G" "" "likely pathogenic" "" "0000147003" "11" "79" "17" "19575117" "19575118" "del" "0" "01596" "ALDH3A2_000062" "g.19575117_19575118del" "" "{PMID:Takeichi 2013:23450279}" "" "" "" "Germline" "" "" "0" "" "" "g.19671804_19671805del" "" "likely pathogenic" "" "0000147065" "1" "79" "17" "19552312" "19552312" "subst" "5.31966E-6" "01596" "ALDH3A2_000063" "g.19552312C>T" "" "{PMID:Sanabria 2011:21968182}" "" "p.Q10X" "" "Germline" "" "" "0" "" "" "g.19648999C>T" "" "likely pathogenic" "" "0000147066" "2" "79" "17" "19566696" "19566698" "del" "0" "01596" "ALDH3A2_000064" "g.19566696_19566698del" "" "{PMID:Sanabria 2011:21968182}" "" "p.E331del" "" "Germline" "" "" "0" "" "" "g.19663383_19663385del" "" "likely pathogenic" "" "0000147067" "1" "79" "17" "19552312" "19552312" "subst" "5.31966E-6" "01596" "ALDH3A2_000063" "g.19552312C>T" "" "{PMID:Sanabria 2011:21968182}" "" "p.Q10X" "" "Germline" "" "" "0" "" "" "g.19648999C>T" "" "likely pathogenic" "" "0000147068" "2" "79" "17" "19566696" "19566698" "del" "0" "01596" "ALDH3A2_000064" "g.19566696_19566698del" "" "{PMID:Sanabria 2011:21968182}" "" "p.E331del" "" "Germline" "" "" "0" "" "" "g.19663383_19663385del" "" "likely pathogenic" "" "0000147069" "0" "79" "17" "19564542" "19564542" "subst" "0" "01596" "ALDH3A2_000056" "g.19564542G>C" "" "{PMID:Möhrenschlager 2005:16354271}" "" "Ala301Pro" "" "Germline" "" "" "0" "" "" "g.19661229G>C" "" "likely pathogenic" "" "0000147070" "0" "79" "17" "19564547" "19564547" "del" "0" "01596" "ALDH3A2_000057" "g.19564547del" "" "{PMID:Möhrenschlager 2005:16354271}" "" "" "" "Germline" "" "" "0" "" "" "g.19661234del" "" "likely pathogenic" "" "0000147071" "0" "79" "17" "19575123" "19575124" "del" "0" "01596" "ALDH3A2_000010" "g.19575123_19575124del" "" "{PMID:Möhrenschlager 2005:16354271}" "" "\"nt1297delGA\" (?)" "" "Germline" "" "" "0" "" "" "g.19671810_19671811del" "" "likely pathogenic" "" "0000147080" "1" "79" "17" "19552357" "19552357" "subst" "0" "01596" "ALDH3A2_000065" "g.19552357C>T" "" "{PMID:Jean-François 2007:17998529}" "" "Gln25Stop" "" "Germline" "" "" "0" "" "" "g.19649044C>T" "" "likely pathogenic" "" "0000147081" "2" "79" "17" "19559758" "19559758" "subst" "2.03032E-5" "01596" "ALDH3A2_000017" "g.19559758C>T" "" "{PMID:Jean-François 2007:17998529}" "" "Thr184Met" "" "Germline" "" "" "0" "" "" "g.19656445C>T" "" "likely pathogenic" "" "0000147101" "2" "79" "17" "19552387" "19552387" "del" "1.59388E-5" "01596" "ALDH3A2_000066" "g.19552387del" "" "{PMID:Sillen 1989:9829906}" "" "nt103delC" "" "Germline" "" "" "0" "" "" "g.19649074del" "" "likely pathogenic" "" "0000147103" "1" "79" "17" "19566648" "19566648" "subst" "0.000109686" "01596" "ALDH3A2_000012" "g.19566648C>T" "" "{PMID:Sillen 1998:9829906}" "" "" "" "Germline" "" "" "0" "" "" "g.19663335C>T" "" "likely pathogenic" "" "0000147104" "2" "79" "17" "19552387" "19552387" "del" "1.59388E-5" "01596" "ALDH3A2_000066" "g.19552387del" "" "{PMID:Sillen 1998:9829906}" "" "" "" "Germline" "" "" "0" "" "" "g.19649074del" "" "likely pathogenic" "" "0000147105" "3" "79" "17" "19555023" "19555023" "subst" "0" "01596" "ALDH3A2_000067" "g.19555023T>G" "" "{PMID:Sillen 1998:9829906}" "" "" "" "Germline" "" "" "0" "" "" "g.19651710T>G" "" "likely pathogenic" "" "0000147106" "3" "79" "17" "19559885" "19559885" "subst" "4.19784E-6" "01596" "ALDH3A2_000068" "g.19559885C>G" "" "{PMID:Sillen 1998:9829906}" "" "" "" "Germline" "" "" "0" "" "" "g.19656572C>G" "" "likely pathogenic" "" "0000147107" "1" "79" "17" "19566648" "19566648" "subst" "0.000109686" "01596" "ALDH3A2_000012" "g.19566648C>T" "" "{PMID:Sillen 1998:9829906}" "" "" "" "Germline" "" "" "0" "" "" "g.19663335C>T" "" "likely pathogenic" "" "0000147109" "2" "79" "17" "19564505" "19564505" "dup" "0" "01596" "ALDH3A2_000069" "g.19564505dup" "" "" "" "nt865insT (?)" "" "Germline" "" "" "0" "" "" "g.19661192dup" "" "likely pathogenic" "" "0000147111" "3" "79" "17" "19566646" "19566648" "del" "0" "01596" "ALDH3A2_000070" "g.19566646_19566648delinsGGGCTAAAAGTACTGTTGGGG" "" "{PMID:Sillen 1998:9829906}" "" "nt941del3, ins21" "exact mutation data extracted from other paper\r\n\"(This mutation has been found previously\r\nin a family of mixed European origin (De Laurenzi\r\n, 1996).\"" "Germline" "" "" "0" "" "" "g.19663333_19663335delinsGGGCTAAAAGTACTGTTGGGG" "" "likely pathogenic" "" "0000147112" "3" "79" "17" "19566799" "19566799" "subst" "0" "01596" "ALDH3A2_000033" "g.19566799C>T" "" "{PMID:Sillen 1998:9829906}" "" "" "" "Germline" "" "" "0" "" "" "g.19663486C>T" "" "likely pathogenic" "" "0000147114" "3" "79" "17" "19575060" "19575060" "subst" "8.12295E-6" "01596" "ALDH3A2_000071" "g.19575060G>A" "" "{PMID:Sillen 1998:9829906}" "" "" "" "Germline" "" "" "0" "" "" "g.19671747G>A" "" "likely pathogenic" "" "0000147127" "3" "79" "17" "19575123" "19575124" "del" "0" "01596" "ALDH3A2_000010" "g.19575123_19575124del" "" "{PMID:Sillen 1998:9829906}" "" "nt1297delGA" "" "Germline" "" "" "0" "" "" "g.19671810_19671811del" "" "likely pathogenic" "" "0000147128" "3" "79" "17" "19575123" "19575124" "del" "0" "01596" "ALDH3A2_000010" "g.19575123_19575124del" "" "{PMID:Sillen 1998:9829906}" "" "nt1297delGA" "" "Germline" "" "" "0" "" "" "g.19671810_19671811del" "" "likely pathogenic" "" "0000152708" "11" "79" "17" "19559736" "19559736" "subst" "5.68491E-5" "01596" "ALDH3A2_000046" "g.19559736C>T" "" "{DOI:Madhu Nagappa 2017: http:/​/​dx.​doi.​org/​10.​1212/​WNL.​0000000000003456}" "" "" "" "Germline" "" "" "0" "" "" "g.19656423C>T" "" "likely pathogenic" "" "0000152709" "21" "79" "17" "19552410" "19552410" "del" "0" "01596" "ALDH3A2_000072" "g.19552410del" "" "{DOI:Madhu Nagappa 2017: http:/​/​dx.​doi.​org/​10.​1212/​WNL.​0000000000003456}" "" "" "" "Germline" "" "" "0" "" "" "g.19649097del" "" "likely pathogenic" "" "0000152728" "3" "99" "17" "19566646" "19566648" "del" "0" "01596" "ALDH3A2_000070" "g.19566646_19566648delinsGGGCTAAAAGTACTGTTGGGG" "" "{PMID:De Laurenzi 1996:08528251}" "" "" "" "Germline" "" "" "0" "" "" "g.19663333_19663335delinsGGGCTAAAAGTACTGTTGGGG" "" "pathogenic" "" "0000152729" "3" "99" "17" "19559848" "19559848" "subst" "4.06699E-6" "01596" "ALDH3A2_000073" "g.19559848G>A" "" "{PMID:De Laurenzi 1996:08528251}" "" "" "" "Germline" "" "" "0" "" "" "g.19656535G>A" "" "pathogenic" "" "0000163223" "1" "99" "17" "19575123" "19575124" "del" "0" "01596" "ALDH3A2_000010" "g.19575123_19575124del" "" "{PMID:Tsukamato 1997: 9250352}" "" "1297 del GA" "" "Germline" "" "" "0" "" "" "g.19671810_19671811del" "" "pathogenic" "" "0000163224" "2" "99" "17" "19575133" "19575137" "dup" "0" "01596" "ALDH3A2_000074" "g.19575133_19575137dup" "" "{PMID:Tsukamoto 1997:9250352}" "" "1311 ins ACAAA (?)" "{CV:SCV000021865}" "Germline" "" "" "0" "" "" "g.19671820_19671824dup" "" "pathogenic" "" "0000163225" "1" "99" "17" "19566799" "19566799" "subst" "0" "01596" "ALDH3A2_000033" "g.19566799C>T" "" "{PMID:Rizzo 2008:17971613}" "" "" "" "Germline" "" "" "0" "" "" "g.19663486C>T" "" "pathogenic" "" "0000163226" "2" "99" "17" "19555947" "19555947" "subst" "0" "01596" "ALDH3A2_000034" "g.19555947T>G" "" "{PMID: Rizzo 2008:17971613}" "" "" "" "Germline" "" "" "0" "" "" "g.19652634T>G" "" "pathogenic" "" "0000163227" "1" "99" "17" "19561175" "19561175" "subst" "4.07242E-6" "01596" "ALDH3A2_000011" "g.19561175G>C" "" "{PMID:Rizzo 2008: 17971613}" "" "" "" "Germline" "" "" "0" "" "" "g.19657862G>C" "" "pathogenic" "" "0000163228" "2" "99" "17" "19566648" "19566648" "subst" "0.000109686" "01596" "ALDH3A2_000012" "g.19566648C>T" "" "{PMID:Rizzo 2008: 17971613}" "" "" "" "Germline" "" "" "0" "" "" "g.19663335C>T" "" "pathogenic" "" "0000163229" "1" "00" "17" "19555854" "19555854" "subst" "0.0122617" "01596" "ALDH3A2_000075" "g.19555854A>G" "" "{PMID:Rizzo 2008: 17971613}" "" "" "" "Germline" "" "" "0" "" "" "g.19652541A>G" "" "" "" "0000163230" "2" "99" "17" "19559761" "19559761" "subst" "0" "01596" "ALDH3A2_000076" "g.19559761G>C" "" "{PMID:Rizzo 2008: 17971613}" "" "" "" "Germline" "" "" "0" "" "" "g.19656448G>C" "" "pathogenic" "" "0000165288" "3" "70" "17" "19568310" "19568310" "subst" "1.62446E-5" "01864" "ALDH3A2_000053" "g.19568310A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.19664997A>G" "" "likely pathogenic" "" "0000174633" "3" "79" "17" "19555077" "19555079" "del" "0" "01596" "ALDH3A2_000077" "g.19555077_19555079del" "" "{PMID:Tavasoli 2016:27462357}" "" "c.370_372del" "" "Germline" "" "" "0" "" "" "g.19651764_19651766del" "" "likely pathogenic" "" "0000177874" "0" "79" "17" "19554860" "19554861" "del" "0" "01596" "ALDH3A2_000078" "g.19554860_19554861del" "" "{PMID:García-Peris 2017:28410621}" "" "c.154_155delAG" "" "Germline" "" "" "0" "" "" "g.19651547_19651548del" "" "likely pathogenic" "" "0000177878" "0" "79" "17" "19559743" "19559743" "subst" "0" "01596" "ALDH3A2_000079" "g.19559743A>T" "" "{PMID:García-Peris:28410621}" "" "c.536A>T" "" "Germline" "" "" "0" "" "" "g.19656430A>T" "" "likely pathogenic" "" "0000177984" "3" "79" "17" "19561059" "19561059" "subst" "1.62456E-5" "01596" "ALDH3A2_000038" "g.19561059C>T" "" "{PMID:Shamriz 2016:28471629}" "" "c.682C>T" "" "Germline" "" "" "0" "" "" "g.19657746C>T" "" "likely pathogenic" "" "0000178999" "3" "79" "17" "19561059" "19561059" "subst" "1.62456E-5" "01596" "ALDH3A2_000038" "g.19561059C>T" "" "{PMID:Shamriz 2016:28471629}" "" "c.682C>T" "" "Germline" "" "" "0" "" "" "g.19657746C>T" "" "likely pathogenic" "" "0000183342" "0" "79" "17" "19561141" "19561141" "del" "0" "01596" "ALDH3A2_000080" "g.19561141del" "" "{PMID:Hidalgo 2017:28257279}" "" "" "" "Germline" "" "" "0" "" "" "g.19657828del" "" "likely pathogenic" "" "0000183343" "0" "79" "17" "19561059" "19561059" "subst" "1.62456E-5" "01596" "ALDH3A2_000038" "g.19561059C>T" "" "{PMID:Hidalgo 2017:28257279}" "" "c.682T>A ?!!!" "Submitter assumes that it should be c.682C>T (= a known mutation).\r\nPublished was \"c.682T>A\"! (probably a mistake because there is no T at position 682)" "Germline" "" "" "0" "" "" "g.19657746C>T" "" "likely pathogenic" "" "0000183344" "3" "79" "17" "19561087" "19561087" "subst" "0" "01596" "ALDH3A2_000031" "g.19561087G>A" "" "{PMID:Hidalgo 2017:28257279}" "" "" "" "Germline" "" "" "0" "" "" "g.19657774G>A" "" "likely pathogenic" "" "0000183345" "3" "79" "17" "19494178" "19559095" "del" "0" "01596" "ALDH3A2_000081" "g.19494178_19559095del" "" "{PMID:Gaboon 2015:25855245}" "" "" "large deletion (67kb) includes exons 1-5 of ALDH3A2" "Germline" "" "" "0" "" "" "g.19590865_19655782del" "" "likely pathogenic" "" "0000236335" "3" "79" "17" "19575068" "19575069" "del" "0" "01596" "ALDH3A2_000082" "g.19575068_19575069del" "" "{DOI:Taghdiri 2017: 10.1002/ccr3.1235}" "" "c.1241_1242delAT" "" "Germline" "" "" "0" "" "" "g.19671755_19671756del" "" "likely pathogenic" "" "0000236395" "3" "79" "17" "19559838" "19559838" "subst" "0" "01596" "ALDH3A2_000083" "g.19559838A>G" "" "{PMID:Kariminejad 2017:29183715}" "" "" "" "Germline" "" "" "0" "" "" "g.19656525A>G" "" "likely pathogenic" "" "0000236400" "3" "79" "17" "19555077" "19555079" "del" "0" "01596" "ALDH3A2_000077" "g.19555077_19555079del" "" "{PMID:Kariminejad 2017:29183715}" "" "" "" "Germline" "" "" "0" "" "" "g.19651764_19651766del" "" "likely pathogenic" "" "0000236401" "3" "79" "17" "19561110" "19561110" "subst" "4.06128E-6" "01596" "ALDH3A2_000006" "g.19561110G>A" "" "{PMID:Kariminejad 2017:29183715}" "" "" "" "Germline" "" "" "0" "" "" "g.19657797G>A" "" "likely pathogenic" "" "0000236402" "3" "79" "17" "19564542" "19564542" "subst" "0" "01596" "ALDH3A2_000056" "g.19564542G>C" "" "{PMID:Kariminejad 2017:29183715}" "" "" "" "Germline" "" "" "0" "" "" "g.19661229G>C" "" "likely pathogenic" "" "0000236403" "3" "79" "17" "19564547" "19564547" "del" "0" "01596" "ALDH3A2_000057" "g.19564547del" "" "{PMID:Kariminejad 2017:29183715}" "" "" "" "Germline" "" "" "0" "" "" "g.19661234del" "" "likely pathogenic" "" "0000236404" "3" "79" "17" "19564550" "19564550" "subst" "4.06144E-6" "01596" "ALDH3A2_000084" "g.19564550T>G" "" "{PMID:Kariminejad 2017:29183715}" "" "" "" "Germline" "" "" "0" "" "" "g.19661237T>G" "" "likely pathogenic" "" "0000236405" "3" "79" "17" "19552309" "19552334" "del" "0" "01596" "ALDH3A2_000085" "g.19552309_19552334del" "" "{PMID:Kariminejad 2017:29183715}" "" "" "" "Germline" "" "" "0" "" "" "g.19648996_19649021del" "" "likely pathogenic" "" "0000236413" "3" "79" "17" "19552309" "19552334" "del" "0" "01596" "ALDH3A2_000085" "g.19552309_19552334del" "" "{PMID:Kariminejad 2017:29183715}" "" "" "" "Germline" "" "" "0" "" "" "g.19648996_19649021del" "" "likely pathogenic" "" "0000236414" "3" "79" "17" "19552387" "19552387" "subst" "0" "01596" "ALDH3A2_000086" "g.19552387C>T" "" "{PMID:Kariminejad 2017:29183715}" "" "" "" "Germline" "" "" "0" "" "" "g.19649074C>T" "" "likely pathogenic" "" "0000237862" "3" "79" "17" "19568310" "19568310" "subst" "1.62446E-5" "01596" "ALDH3A2_000053" "g.19568310A>G" "" "{PMID:Kim 2018:29071827 }" "" "" "" "Germline" "" "" "0" "" "" "g.19664997A>G" "" "likely pathogenic" "" "0000237863" "3" "79" "17" "19559758" "19559758" "subst" "2.03032E-5" "01596" "ALDH3A2_000017" "g.19559758C>T" "" "{PMID:Papathemeli 2017:29181214 }" "" "" "" "Germline" "" "" "0" "" "" "g.19656445C>T" "" "likely pathogenic" "" "0000248690" "0" "10" "17" "19578873" "19578873" "subst" "0.618864" "02325" "ALDH3A2_000055" "g.19578873A>T" "" "" "" "ALDH3A2(NM_000382.3):c.1446A>T (p.A482=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19675560A>T" "" "benign" "" "0000255886" "0" "50" "17" "19552403" "19552403" "subst" "0.000764444" "01943" "ALDH3A2_000090" "g.19552403A>G" "" "" "" "ALDH3A2(NM_001031806.1):c.119A>G (p.D40G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19649090A>G" "" "VUS" "" "0000256069" "0" "50" "17" "19566759" "19566759" "subst" "4.06286E-6" "01943" "ALDH3A2_000097" "g.19566759A>G" "" "" "" "ALDH3A2(NM_001031806.1):c.1054A>G (p.I352V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19663446A>G" "" "VUS" "" "0000259016" "0" "10" "17" "19561021" "19561028" "del" "0" "02325" "ALDH3A2_000093" "g.19561021_19561028del" "" "" "" "ALDH3A2(NM_001031806.2):c.681-37_681-30delCTGAATTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19657708_19657715del" "" "benign" "" "0000259017" "0" "10" "17" "19564634" "19564634" "subst" "0" "02325" "ALDH3A2_000095" "g.19564634C>G" "" "" "" "ALDH3A2(NM_001031806.2):c.940+53C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19661321C>G" "" "benign" "" "0000259446" "0" "30" "17" "19575096" "19575096" "subst" "0.00428447" "02325" "ALDH3A2_000100" "g.19575096C>T" "" "" "" "ALDH3A2(NM_001031806.1):c.1270C>T (p.P424S), ALDH3A2(NM_001031806.2):c.1270C>T (p.P424S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19671783C>T" "" "likely benign" "" "0000259447" "0" "30" "17" "19552312" "19552312" "subst" "0.00359609" "02325" "ALDH3A2_000089" "g.19552312C>G" "" "" "" "ALDH3A2(NM_000382.2):c.28C>G (p.(Gln10Glu)), ALDH3A2(NM_000382.3):c.28C>G (p.Q10E), ALDH3A2(NM_001031806.2):c.28C>G (p.Q10E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19648999C>G" "" "likely benign" "" "0000259743" "0" "90" "17" "19566648" "19566648" "subst" "0.000109686" "02325" "ALDH3A2_000012" "g.19566648C>T" "" "" "" "ALDH3A2(NM_000382.3):c.943C>T (p.P315S), ALDH3A2(NM_001031806.1):c.943C>T (p.P315S), ALDH3A2(NM_001031806.2):c.943C>T (p.P315S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19663335C>T" "" "pathogenic" "" "0000260053" "0" "90" "17" "19564465" "19564466" "del" "0" "02329" "ALDH3A2_000094" "g.19564465_19564466del" "" "" "" "ALDH3A2(NM_001031806.2):c.824_825delAG (p.E275Vfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19661152_19661153del" "" "pathogenic" "" "0000262210" "0" "30" "17" "19575096" "19575096" "subst" "0.00428447" "01943" "ALDH3A2_000100" "g.19575096C>T" "" "" "" "ALDH3A2(NM_001031806.1):c.1270C>T (p.P424S), ALDH3A2(NM_001031806.2):c.1270C>T (p.P424S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19671783C>T" "" "likely benign" "" "0000262211" "0" "70" "17" "19575123" "19575124" "del" "0" "01943" "ALDH3A2_000101" "g.19575123_19575124del" "" "" "" "ALDH3A2(NM_000382.2):c.1297_1298delGA (p.(Glu433ArgfsTer3)), ALDH3A2(NM_000382.3):c.1297_1298delGA (p.E433Rfs*3), ALDH3A2(NM_001031806.1):c.1297_12..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19671810_19671811del" "" "likely pathogenic" "" "0000262212" "0" "50" "17" "19559858" "19559858" "subst" "8.14876E-6" "01943" "ALDH3A2_000092" "g.19559858T>G" "" "" "" "ALDH3A2(NM_001031806.1):c.651T>G (p.D217E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19656545T>G" "" "VUS" "" "0000262213" "0" "30" "17" "19566683" "19566683" "subst" "0.000166525" "01943" "ALDH3A2_000096" "g.19566683G>C" "" "" "" "ALDH3A2(NM_001031806.1):c.978G>C (p.K326N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19663370G>C" "" "likely benign" "" "0000325290" "0" "50" "17" "19552298" "19552298" "subst" "0" "01804" "ALDH3A2_000088" "g.19552298T>C" "" "" "" "ALDH3A2(NM_000382.2):c.14T>C (p.(Val5Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19648985T>C" "" "VUS" "" "0000325293" "0" "50" "17" "19566768" "19566768" "subst" "4.06339E-6" "01804" "ALDH3A2_000098" "g.19566768C>T" "" "" "" "ALDH3A2(NM_000382.2):c.1063C>T (p.(Arg355Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19663455C>T" "" "VUS" "" "0000325295" "0" "50" "17" "19576471" "19576471" "subst" "2.8425E-5" "01804" "ALDH3A2_000102" "g.19576471A>G" "" "" "" "ALDH3A2(NM_001031806.1):c.1451A>G (p.(Gln484Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19673158A>G" "" "VUS" "" "0000325298" "0" "50" "17" "19584877" "19584877" "subst" "4.46693E-5" "01804" "SLC47A2_000002" "g.19584877G>A" "" "" "" "SLC47A2(NM_001099646.1):c.1271C>T (p.(Thr424Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19681564G>A" "" "VUS" "" "0000337416" "0" "10" "17" "19578873" "19578873" "subst" "0.618864" "02327" "ALDH3A2_000055" "g.19578873A>T" "" "" "" "ALDH3A2(NM_000382.3):c.1446A>T (p.A482=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19675560A>T" "" "benign" "" "0000348374" "0" "90" "17" "19566648" "19566648" "subst" "0.000109686" "02327" "ALDH3A2_000012" "g.19566648C>T" "" "" "" "ALDH3A2(NM_000382.3):c.943C>T (p.P315S), ALDH3A2(NM_001031806.1):c.943C>T (p.P315S), ALDH3A2(NM_001031806.2):c.943C>T (p.P315S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19663335C>T" "" "pathogenic" "" "0000368893" "3" "97" "17" "19561060" "19561060" "subst" "0" "01596" "ALDH3A2_000021" "g.19561060G>A" "" "{PMID:Vural 2018:29704247}" "" "" "" "Germline" "" "" "0" "" "" "g.19657747G>A" "" "pathogenic" "" "0000368894" "3" "97" "17" "19561060" "19561060" "subst" "0" "01596" "ALDH3A2_000021" "g.19561060G>A" "" "{PMID:Vural 2018:29704247}" "" "" "" "Germline" "" "" "0" "" "" "g.19657747G>A" "" "pathogenic" "" "0000368895" "3" "97" "17" "19561060" "19561060" "subst" "0" "01596" "ALDH3A2_000021" "g.19561060G>A" "" "{PMID:Vural 2018:29704247}" "" "" "" "Germline" "" "" "0" "" "" "g.19657747G>A" "" "pathogenic" "" "0000368896" "3" "97" "17" "19561060" "19561060" "subst" "0" "01596" "ALDH3A2_000021" "g.19561060G>A" "" "{PMID:Vural 2018:29704247}" "" "" "" "Germline" "" "" "0" "" "" "g.19657747G>A" "" "pathogenic" "" "0000368897" "3" "97" "17" "19561060" "19561060" "subst" "0" "01596" "ALDH3A2_000021" "g.19561060G>A" "" "{PMID:Vural 2018:29704247}" "" "" "" "Germline" "" "" "0" "" "" "g.19657747G>A" "" "pathogenic" "" "0000368898" "3" "97" "17" "19561060" "19561060" "subst" "0" "01596" "ALDH3A2_000021" "g.19561060G>A" "" "{PMID:Vural 2018:29704247}" "" "" "" "Germline" "" "" "0" "" "" "g.19657747G>A" "" "pathogenic" "" "0000368899" "3" "97" "17" "19561060" "19561060" "subst" "0" "01596" "ALDH3A2_000021" "g.19561060G>A" "" "{PMID:Vural 2018:29704247}" "" "" "" "Germline" "" "" "0" "" "" "g.19657747G>A" "" "pathogenic" "" "0000368983" "21" "97" "17" "19561180" "19561180" "subst" "0" "01596" "ALDH3A2_000029" "g.19561180G>A" "" "{PMID:Paiva 2018:29742247}" "" "" "splice site mutation" "Germline" "" "" "0" "" "" "g.19657867G>A" "" "pathogenic" "" "0000368984" "11" "97" "17" "19568260" "19568260" "subst" "4.06448E-6" "01596" "ALDH3A2_000037" "g.19568260G>C" "" "{PMID:Paiva 2018:29742247}" "" "" "splice site mutation" "Germline" "" "" "0" "" "" "g.19664947G>C" "" "pathogenic" "" "0000403784" "3" "97" "17" "19552294" "19552294" "subst" "0" "01596" "ALDH3A2_000107" "g.19552294G>T" "" "{PMID:Shah 2017: 29130490}" "" "" "" "Germline" "yes" "" "0" "" "" "g.19648981G>T" "" "pathogenic" "" "0000403785" "3" "97" "17" "19552294" "19552294" "subst" "0" "01596" "ALDH3A2_000107" "g.19552294G>T" "" "{PMID:Shah 2017 : 29130490}" "" "" "" "Germline" "yes" "" "0" "" "" "g.19648981G>T" "" "pathogenic" "" "0000403786" "3" "97" "17" "19552294" "19552294" "subst" "0" "01596" "ALDH3A2_000107" "g.19552294G>T" "" "{PMID:Shah 2017 : 29130490}" "" "" "" "Germline" "yes" "" "0" "" "" "g.19648981G>T" "" "pathogenic" "" "0000403836" "3" "97" "17" "19566646" "19566648" "del" "0" "01596" "ALDH3A2_000070" "g.19566646_19566648delinsGGGCTAAAAGTACTGTTGGGG" "" "{PMID:Tanteles 2015: 26394537}" "" "\"c.941-942delins21bp\"; \"CCC dele- tion at nucleotide positions 941 to 943 coupled with a 21 nucleotide 5’-GGGCTAAAAGTACTGTTGGGG-3’ insertion\"" "" "Germline" "yes" "" "0" "" "" "g.19663333_19663335delinsGGGCTAAAAGTACTGTTGGGG" "" "pathogenic" "" "0000403838" "3" "97" "17" "19566646" "19566648" "del" "0" "01596" "ALDH3A2_000070" "g.19566646_19566648delinsGGGCTAAAAGTACTGTTGGGG" "" "{PMID:Tanteles 2015: 26394537}" "" "\"c.941-942delins21bp\"; \"CCC deletion at nucleotide positions 941 to 943 coupled with a 21 nucleotide 5’-GGGCTAAAAGTACTGTTGGGG-3’ insertion\"" "" "Germline" "yes" "" "0" "" "" "g.19663333_19663335delinsGGGCTAAAAGTACTGTTGGGG" "" "pathogenic" "" "0000403840" "3" "97" "17" "19566646" "19566648" "del" "0" "01596" "ALDH3A2_000070" "g.19566646_19566648delinsGGGCTAAAAGTACTGTTGGGG" "" "{PMID:Tanteles 2015: 26394537}" "" "\"c.941-942delins21bp\"; \"CCC deletion at nucleotide positions 941 to 943 coupled with a 21 nucleotide 5’-GGGCTAAAAGTACTGTTGGGG-3’ insertion\"" "" "Germline" "yes" "" "0" "" "" "g.19663333_19663335delinsGGGCTAAAAGTACTGTTGGGG" "" "pathogenic" "" "0000403897" "3" "97" "17" "19564446" "19564446" "del" "0" "01596" "ALDH3A2_000108" "g.19564446del" "" "{PMID:Botelho 2011: 21524986}" "" "" "" "Germline" "" "" "0" "" "" "g.19661133del" "" "pathogenic" "" "0000403900" "3" "97" "17" "19575123" "19575124" "del" "0" "01596" "ALDH3A2_000010" "g.19575123_19575124del" "" "{PMID:Sijens 2009:19656702}" "" "" "" "Germline" "" "" "0" "" "" "g.19671810_19671811del" "" "pathogenic" "" "0000403904" "3" "97" "17" "19568355" "19568355" "subst" "0" "01596" "ALDH3A2_000109" "g.19568355G>A" "" "{PMID:Nakano 2008: 18684595}" "" "" "" "Germline" "" "" "0" "" "" "g.19665042G>A" "" "pathogenic" "" "0000405668" "3" "97" "17" "19568310" "19568310" "subst" "1.62446E-5" "01596" "ALDH3A2_000053" "g.19568310A>G" "" "{PMID:Nakajima 2011: 21531120}" "" "" "" "Germline" "" "" "0" "" "" "g.19664997A>G" "" "pathogenic" "" "0000405690" "3" "97" "17" "19568260" "19568260" "subst" "4.06448E-6" "01596" "ALDH3A2_000037" "g.19568260G>C" "" "{PMID:Incecik 2018:29899769}" "" "" "homozygous state inferred by submitter" "Germline" "" "" "0" "" "" "g.19664947G>C" "" "pathogenic" "" "0000405691" "3" "97" "17" "19568260" "19568260" "subst" "4.06448E-6" "01596" "ALDH3A2_000037" "g.19568260G>C" "" "{PMID:Incecik 2018:29899769}" "" "" "homozygous state inferred by submitter" "Germline" "" "" "0" "" "" "g.19664947G>C" "" "pathogenic" "" "0000405692" "3" "97" "17" "19552308" "19552309" "del" "0" "01596" "ALDH3A2_000110" "g.19552308_19552309delinsTT" "" "{PMID:Incecik 2018:29899769}" "" "c.24-25CC>TT" "homozygous state inferred by submitter" "Germline" "" "" "0" "" "" "g.19648995_19648996delinsTT" "" "pathogenic" "" "0000405693" "3" "97" "17" "19552308" "19552309" "del" "0" "01596" "ALDH3A2_000110" "g.19552308_19552309delinsTT" "" "{PMID:Incecik 2018:29899769}" "" "c.24-25CC>TT" "homozygous state inferred by submitter" "Germline" "" "" "0" "" "" "g.19648995_19648996delinsTT" "" "pathogenic" "" "0000405694" "3" "97" "17" "19568260" "19568260" "subst" "4.06448E-6" "01596" "ALDH3A2_000037" "g.19568260G>C" "" "{PMID:Incecik 2018:29899769}" "" "" "homozygous state inferred by submitter" "Germline" "" "" "0" "" "" "g.19664947G>C" "" "pathogenic" "" "0000405695" "3" "97" "17" "19568260" "19568260" "subst" "4.06448E-6" "01596" "ALDH3A2_000037" "g.19568260G>C" "" "{PMID:Incecik 2018:29899769}" "" "" "homozygous state inferred by submitter" "Germline" "" "" "0" "" "" "g.19664947G>C" "" "pathogenic" "" "0000405696" "3" "97" "17" "19555031" "19555031" "subst" "1.62462E-5" "01596" "ALDH3A2_000111" "g.19555031G>A" "" "{PMID:Rafai 2008:18951768}" "" "G109A" "published was G109A, submitter assumes that it should be c.325G>A in the cDNA sequence which is part of the codon coding for AS 109 in the protein." "Germline" "" "" "0" "" "" "g.19651718G>A" "" "pathogenic" "" "0000405853" "3" "97" "17" "19566658" "19566658" "subst" "0" "01596" "ALDH3A2_000112" "g.19566658T>C" "" "{PMID:Jain 2015:25532748}" "" "" "" "Germline" "" "" "0" "" "" "g.19663345T>C" "" "pathogenic" "" "0000405854" "11" "97" "17" "19559888" "19559888" "subst" "0" "01596" "ALDH3A2_000113" "g.19559888G>A" "" "{PMID:Jain 2015:25532748}" "" "" "" "Germline" "" "" "0" "" "" "g.19656575G>A" "" "pathogenic" "" "0000405855" "21" "97" "17" "19561176" "19561176" "del" "0" "01596" "ALDH3A2_000114" "g.19561176del" "" "{PMID:Jain 2015:25532748}" "" "" "" "Germline" "" "" "0" "" "" "g.19657863del" "" "pathogenic" "" "0000405856" "11" "97" "17" "19559888" "19559888" "subst" "0" "01596" "ALDH3A2_000113" "g.19559888G>A" "" "{PMID:Jain 2015:25532748}" "" "" "" "Germline" "" "" "0" "" "" "g.19656575G>A" "" "pathogenic" "" "0000405857" "21" "97" "17" "19561176" "19561176" "del" "0" "01596" "ALDH3A2_000114" "g.19561176del" "" "{PMID:Jain 2015:25532748}" "" "" "" "Germline" "" "" "0" "" "" "g.19657863del" "" "pathogenic" "" "0000405921" "3" "77" "17" "19561059" "19561059" "subst" "1.62456E-5" "01596" "ALDH3A2_000038" "g.19561059C>T" "" "*" "" "" "" "Germline" "" "" "0" "" "" "g.19657746C>T" "" "likely pathogenic" "" "0000560646" "0" "30" "17" "19552312" "19552312" "subst" "0.00359609" "01804" "ALDH3A2_000089" "g.19552312C>G" "" "" "" "ALDH3A2(NM_000382.2):c.28C>G (p.(Gln10Glu)), ALDH3A2(NM_000382.3):c.28C>G (p.Q10E), ALDH3A2(NM_001031806.2):c.28C>G (p.Q10E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19648999C>G" "" "likely benign" "" "0000560648" "0" "30" "17" "19555854" "19555854" "subst" "0.0122617" "01804" "ALDH3A2_000075" "g.19555854A>G" "" "" "" "ALDH3A2(NM_000382.2):c.386-6A>G (p.?), ALDH3A2(NM_000382.3):c.386-6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19652541A>G" "" "likely benign" "" "0000560652" "0" "70" "17" "19561059" "19561059" "subst" "1.62456E-5" "02327" "ALDH3A2_000038" "g.19561059C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19657746C>T" "" "likely pathogenic" "" "0000560653" "0" "50" "17" "19564581" "19564581" "subst" "4.0624E-6" "01943" "ALDH3A2_000118" "g.19564581G>C" "" "" "" "ALDH3A2(NM_001031806.1):c.940G>C (p.A314P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19661268G>C" "" "VUS" "" "0000560655" "0" "90" "17" "19566648" "19566648" "subst" "0.000109686" "02329" "ALDH3A2_000012" "g.19566648C>T" "" "" "" "ALDH3A2(NM_000382.3):c.943C>T (p.P315S), ALDH3A2(NM_001031806.1):c.943C>T (p.P315S), ALDH3A2(NM_001031806.2):c.943C>T (p.P315S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19663335C>T" "" "pathogenic" "" "0000560656" "0" "50" "17" "19566694" "19566694" "subst" "0.000280249" "01943" "ALDH3A2_000119" "g.19566694A>G" "" "" "" "ALDH3A2(NM_001031806.1):c.989A>G (p.E330G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19663381A>G" "" "VUS" "" "0000560657" "0" "50" "17" "19566799" "19566799" "subst" "0" "02327" "ALDH3A2_000033" "g.19566799C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19663486C>T" "" "VUS" "" "0000560658" "0" "30" "17" "19575031" "19575031" "subst" "0" "01943" "ALDH3A2_000120" "g.19575031C>T" "" "" "" "ALDH3A2(NM_001031806.1):c.1208-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19671718C>T" "" "likely benign" "" "0000560661" "0" "30" "17" "19575224" "19575224" "subst" "0.000694585" "01943" "ALDH3A2_000121" "g.19575224C>T" "" "" "" "ALDH3A2(NM_001031806.1):c.1398C>T (p.L466=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19671911C>T" "" "likely benign" "" "0000616432" "0" "30" "17" "19554855" "19554855" "subst" "2.43789E-5" "02325" "ALDH3A2_000125" "g.19554855A>G" "" "" "" "ALDH3A2(NM_001031806.2):c.154-5A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19651542A>G" "" "likely benign" "" "0000649515" "1" "30" "17" "19580347" "19580347" "subst" "0" "03575" "ALDH3A2_000126" "g.19580347G>A" "207/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "207 heterozygous; {DB:CLININrs76846683}" "Germline" "" "rs76846683" "0" "" "" "g.19677034G>A" "" "likely benign" "" "0000658061" "0" "30" "17" "19576534" "19576534" "subst" "4.06065E-6" "01943" "ALDH3A2_000128" "g.19576534G>A" "" "" "" "ALDH3A2(NM_001031806.1):c.1514G>A (p.S505N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19673221G>A" "" "likely benign" "" "0000668263" "3" "90" "17" "19559835" "19559835" "subst" "4.06362E-6" "00006" "ALDH3A2_000129" "g.19559835G>A" "" "{PMID:Makrythanasis 2014:25044680}" "" "" "" "Germline" "" "" "0" "" "" "g.19656522G>A" "" "pathogenic (recessive)" "" "0000669388" "3" "30" "17" "19580347" "19580347" "subst" "0" "03575" "ALDH3A2_000126" "g.19580347G>A" "7/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 homozygous; {DB:CLININrs76846683}" "Germline" "" "rs76846683" "0" "" "" "g.19677034G>A" "" "likely benign" "" "0000674730" "3" "90" "17" "19566648" "19566648" "subst" "0.000109686" "01807" "ALDH3A2_000012" "g.19566648C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000680808" "0" "90" "17" "19561124" "19561125" "del" "0" "02327" "ALDH3A2_000130" "g.19561124_19561125del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000680809" "0" "50" "17" "19576533" "19576533" "subst" "4.06062E-5" "01943" "ALDH3A2_000131" "g.19576533A>G" "" "" "" "ALDH3A2(NM_001031806.1):c.1513A>G (p.S505G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000685000" "0" "70" "17" "19561059" "19561059" "subst" "1.62456E-5" "00004" "ALDH3A2_000038" "g.19561059C>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000692287" "0" "90" "17" "19566648" "19566648" "subst" "0.000109686" "01943" "ALDH3A2_000012" "g.19566648C>T" "" "" "" "ALDH3A2(NM_000382.3):c.943C>T (p.P315S), ALDH3A2(NM_001031806.1):c.943C>T (p.P315S), ALDH3A2(NM_001031806.2):c.943C>T (p.P315S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000692288" "0" "90" "17" "19575123" "19575124" "del" "0" "02325" "ALDH3A2_000010" "g.19575123_19575124del" "" "" "" "ALDH3A2(NM_000382.2):c.1297_1298delGA (p.(Glu433ArgfsTer3)), ALDH3A2(NM_000382.3):c.1297_1298delGA (p.E433Rfs*3), ALDH3A2(NM_001031806.1):c.1297_12..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000726237" "0" "10" "17" "19555854" "19555854" "subst" "0.0122617" "02326" "ALDH3A2_000075" "g.19555854A>G" "" "" "" "ALDH3A2(NM_000382.2):c.386-6A>G (p.?), ALDH3A2(NM_000382.3):c.386-6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000726238" "0" "90" "17" "19575123" "19575124" "del" "0" "02329" "ALDH3A2_000010" "g.19575123_19575124del" "" "" "" "ALDH3A2(NM_000382.2):c.1297_1298delGA (p.(Glu433ArgfsTer3)), ALDH3A2(NM_000382.3):c.1297_1298delGA (p.E433Rfs*3), ALDH3A2(NM_001031806.1):c.1297_12..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000786729" "3" "90" "17" "19552410" "19552410" "del" "0" "00006" "ALDH3A2_000072" "g.19552410del" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.19649097del" "" "pathogenic" "" "0000807853" "0" "50" "17" "19566720" "19566720" "subst" "1.21849E-5" "01943" "ALDH3A2_000132" "g.19566720A>G" "" "" "" "ALDH3A2(NM_001031806.1):c.1015A>G (p.I339V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000811975" "3" "70" "17" "19561059" "19561059" "subst" "1.62456E-5" "00000" "ALDH3A2_000038" "g.19561059C>T" "" "{PMID:Abu Diab 2019:30925032}" "" "c.682C>T, p.(Arg228Cys)" "homozygous" "Germline" "yes" "" "0" "" "" "g.19657746C>T" "" "likely pathogenic" "" "0000817815" "3" "90" "17" "19559758" "19559758" "subst" "2.03032E-5" "00006" "ALDH3A2_000017" "g.19559758C>T" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.19656445C>T" "" "pathogenic (recessive)" "ACMG" "0000846509" "3" "70" "17" "19561059" "19561059" "subst" "1.62456E-5" "00000" "ALDH3A2_000038" "g.19561059C>T" "" "{PMID:Alabdullatif 2017:27717089}" "" "ALDH3A2 c.682C>T, (p.Arg228Cys)" "homozygous" "Germline" "yes" "" "0" "" "" "g.19657746C>T" "" "likely pathogenic" "" "0000893392" "0" "30" "17" "19552312" "19552312" "subst" "0.00359609" "02326" "ALDH3A2_000089" "g.19552312C>G" "" "" "" "ALDH3A2(NM_000382.2):c.28C>G (p.(Gln10Glu)), ALDH3A2(NM_000382.3):c.28C>G (p.Q10E), ALDH3A2(NM_001031806.2):c.28C>G (p.Q10E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893393" "0" "30" "17" "19559770" "19559770" "subst" "0.00285471" "02326" "ALDH3A2_000133" "g.19559770C>T" "" "" "" "ALDH3A2(NM_000382.3):c.563C>T (p.A188V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982362" "0" "90" "17" "19575123" "19575124" "del" "0" "01804" "ALDH3A2_000010" "g.19575123_19575124del" "" "" "" "ALDH3A2(NM_000382.2):c.1297_1298delGA (p.(Glu433ArgfsTer3)), ALDH3A2(NM_000382.3):c.1297_1298delGA (p.E433Rfs*3), ALDH3A2(NM_001031806.1):c.1297_12..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000982363" "0" "30" "17" "19578921" "19578921" "subst" "0.0069212" "01804" "ALDH3A2_000134" "g.19578921G>A" "" "" "" "ALDH3A2(NM_001369146.2):c.1258G>A (p.(Glu420Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003032" "0" "50" "17" "19576586" "19576586" "subst" "4.06161E-6" "01804" "ALDH3A2_000135" "g.19576586G>A" "" "" "" "ALDH3A2(NM_001031806.1):c.*39G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041688" "0" "30" "17" "19561049" "19561049" "dup" "0" "01804" "ALDH3A2_000136" "g.19561049dup" "" "" "" "ALDH3A2(NM_000382.3):c.681-9dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041689" "0" "30" "17" "19561179" "19561179" "subst" "0" "01804" "ALDH3A2_000137" "g.19561179T>G" "" "" "" "ALDH3A2(NM_000382.3):c.798+4T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 ALDH3A2 ## Count = 293 "{{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}}" "0000096440" "00002354" "90" "521" "0" "521" "0" "c.521del" "r.521del" "p.Leu174Argfs*28" "4" "0000096441" "00002354" "90" "809" "0" "809" "0" "c.809del" "r.809del" "p.Gly270Glufs*4" "6" "0000127950" "00002354" "99" "1309" "0" "1309" "0" "c.1309A>T" "r.(?)" "p.(Lys437*)" "9" "0000127951" "00002354" "99" "1309" "0" "1309" "0" "c.1309A>T" "r.(?)" "p.(Lys437*)" "9" "0000128166" "00002354" "99" "471" "1" "471" "1" "c.471+1del" "r.spl?" "p.?" "3i" "0000128388" "00002354" "99" "472" "-1" "472" "-1" "c.472-1G>T" "r.spl?" "p.?" "3i" "0000128390" "00002354" "99" "733" "0" "733" "0" "c.733G>A" "r.(?)" "p.(Asp245Asn)" "5" "0000128391" "00002354" "99" "471" "1" "471" "1" "c.471+1del" "r.spl?" "p.?" "3i" "0000128392" "00002354" "99" "619" "0" "619" "0" "c.619dup" "r.(?)" "p.(Glu207Glyfs*11)" "4" "0000128481" "00002354" "79" "370" "0" "370" "0" "c.370G>A" "r.(?)" "p.(Gly124Arg)" "2" "0000128482" "00002354" "79" "648" "0" "649" "0" "c.648_649insAT" "r.(?)" "p.(Asp217Metfs*14)" "4" "0000128829" "00002354" "99" "1297" "0" "1298" "0" "c.1297_1298del" "r.(?)" "p.(Glu433Argfs*3)" "" "0000128830" "00002354" "99" "798" "0" "798" "0" "c.798G>C" "r.(?)" "p.(Lys266Asn)" "" "0000128874" "00002354" "99" "943" "0" "943" "0" "c.943C>T" "r.(?)" "p.(Pro315Ser)" "" "0000128875" "00002354" "00" "25" "0" "50" "0" "c.25_50del" "r.(?)" "p.(Arg9Alafs*36)" "" "0000128876" "00002354" "99" "943" "0" "943" "0" "c.943C>T" "r.(?)" "p.(Pro315Ser)" "" "0000128877" "00002354" "99" "80" "0" "80" "0" "c.80T>C" "r.(?)" "p.(Leu27Pro)" "" "0000128878" "00002354" "99" "1297" "0" "1298" "0" "c.1297_1298del" "r.(?)" "p.(Glu433Argfs*3)" "" "0000128879" "00002354" "99" "798" "0" "798" "0" "c.798G>C" "r.(?)" "p.(Lys266Asn)" "" "0000128880" "00002354" "99" "1297" "0" "1298" "0" "c.1297_1298del" "r.(?)" "p.(Glu433Argfs*3)" "" "0000128881" "00002354" "99" "80" "0" "80" "0" "c.80T>C" "r.(?)" "p.(Leu27Pro)" "" "0000129872" "00002354" "99" "487" "0" "487" "0" "c.487dup" "r.(?)" "p.(Ile163Asnfs*2)" "" "0000129925" "00002354" "99" "1384" "0" "1387" "0" "c.1384_1387del" "r.(?)" "p.(Glu462Asnfs*13)" "" "0000129926" "00002354" "99" "1384" "0" "1387" "0" "c.1384_1387del" "r.(?)" "p.(Glu462Asnfs*13)" "" "0000129927" "00002354" "99" "733" "0" "733" "0" "c.733G>A" "r.(?)" "p.(Asp245Asn)" "" "0000129928" "00002354" "99" "1297" "0" "1298" "0" "c.1297_1298del" "r.(?)" "p.(Glu433Argfs*3)" "" "0000129929" "00002354" "99" "1297" "0" "1298" "0" "c.1297_1298del" "r.(?)" "p.(Glu433Argfs*3)" "" "0000130453" "00002354" "99" "1297" "0" "1298" "0" "c.1297_1298del" "r.(?)" "p.(Glu433Argfs*3)" "" "0000130454" "00002354" "99" "943" "0" "943" "0" "c.943C>T" "r.(?)" "p.(Pro315Ser)" "" "0000130456" "00002354" "99" "1297" "0" "1298" "0" "c.1297_1298del" "r.(?)" "p.(Glu433Argfs*3)" "" "0000130458" "00002354" "99" "943" "0" "943" "0" "c.943C>T" "r.(?)" "p.(Pro315Ser)" "" "0000130459" "00002354" "79" "1297" "0" "1298" "0" "c.1297_1298del" "r.(?)" "p.(Glu433Argfs*3)" "" "0000130460" "00002354" "79" "1297" "0" "1298" "0" "c.1297_1298del" "r.(?)" "p.(Glu433Argfs*3)" "" "0000130461" "00002354" "99" "943" "0" "943" "0" "c.943C>T" "r.(?)" "p.(Pro315Ser)" "" "0000130462" "00002354" "99" "551" "0" "551" "0" "c.551C>T" "r.(?)" "p.(Thr184Met)" "" "0000130463" "00002354" "99" "943" "0" "943" "0" "c.943C>T" "r.(?)" "p.(Pro315Ser)" "" "0000130464" "00002354" "99" "551" "0" "551" "0" "c.551C>T" "r.(?)" "p.(Thr184Met)" "" "0000130465" "00002354" "79" "681" "-14" "681" "-14" "c.681-14T>C" "r.(=)" "p.(=)" "" "0000130466" "00002354" "79" "835" "0" "835" "0" "c.835T>A" "r.(?)" "p.(Tyr279Asn)" "6" "0000130467" "00002354" "79" "835" "0" "835" "0" "c.835T>A" "r.(?)" "p.(Tyr279Asn)" "6" "0000130468" "00002354" "79" "1139" "0" "1139" "0" "c.1139G>A" "r.(?)" "p.(Ser380Asn)" "8" "0000130469" "00002354" "79" "683" "0" "683" "0" "c.683G>A" "r.(?)" "p.(Arg228His)" "5" "0000130470" "00002354" "99" "1339" "0" "1339" "0" "c.1339A>G" "r.(?)" "p.(Lys447Glu)" "9" "0000130471" "00002354" "79" "503" "0" "504" "0" "c.503_504dup" "r.(?)" "p.(Glu169Argfs*7)" "4" "0000130472" "00002354" "99" "-106175" "0" "221023" "0" "c.-106175_*219565del" "r.0?" "p.0?" "" "0000130473" "00002354" "79" "-835830" "0" "582770" "0" "c.-835830_*581312del" "r.0?" "p.0?" "" "0000130474" "00002354" "79" "407" "0" "407" "0" "c.407C>T" "r.(?)" "p.(Pro136Leu)" "3" "0000130475" "00002354" "00" "142" "0" "142" "0" "c.142G>T" "r.(?)" "p.(Asp48Tyr)" "1" "0000130476" "00002354" "79" "142" "0" "142" "0" "c.142G>T" "r.(?)" "p.(Asp48Tyr)" "1" "0000130477" "00002354" "99" "798" "1" "798" "5" "c.798+1_798+5del" "r.spl" "p.?" "5i" "0000130478" "00002354" "99" "798" "5" "798" "6" "c.798+5_798+6del" "r.spl?" "p.?" "" "0000130479" "00002354" "99" "798" "5" "798" "5" "c.798+5G>A" "r.spl?" "p.?" "" "0000130480" "00002354" "99" "798" "1" "798" "1" "c.798+1del" "r.spl?" "p.?" "" "0000130481" "00002354" "99" "710" "0" "710" "0" "c.710G>A" "r.(?)" "p.(Cys237Tyr)" "" "0000130482" "00002354" "99" "1297" "0" "1298" "0" "c.1297_1298del" "r.(?)" "p.(Glu433Argfs*3)" "" "0000130484" "00002354" "99" "1297" "0" "1298" "0" "c.1297_1298del" "r.(?)" "p.(Glu433Argfs*3)" "" "0000130485" "00002354" "99" "710" "0" "710" "0" "c.710G>A" "r.(?)" "p.(Cys237Tyr)" "" "0000130486" "00002354" "99" "943" "0" "943" "0" "c.943C>T" "r.(?)" "p.(Pro315Ser)" "" "0000130487" "00002354" "99" "943" "0" "943" "0" "c.943C>T" "r.(?)" "p.(Pro315Ser)" "" "0000130488" "00002354" "99" "943" "0" "943" "0" "c.943C>T" "r.(?)" "p.(Pro315Ser)" "" "0000130489" "00002354" "99" "943" "0" "943" "0" "c.943C>T" "r.(?)" "p.(Pro315Ser)" "" "0000130490" "00002354" "99" "943" "0" "943" "0" "c.943C>T" "r.(?)" "p.(Pro315Ser)" "" "0000130491" "00002354" "99" "943" "0" "943" "0" "c.943C>T" "r.(?)" "p.(Pro315Ser)" "" "0000130492" "00002354" "99" "943" "0" "943" "0" "c.943C>T" "r.(?)" "p.(Pro315Ser)" "" "0000130493" "00002354" "99" "943" "0" "943" "0" "c.943C>T" "r.(?)" "p.(Pro315Ser)" "" "0000130494" "00002354" "99" "943" "0" "943" "0" "c.943C>T" "r.(?)" "p.(Pro315Ser)" "" "0000130495" "00002354" "99" "943" "0" "943" "0" "c.943C>T" "r.(?)" "p.(Pro315Ser)" "" "0000130496" "00002354" "99" "943" "0" "943" "0" "c.943C>T" "r.(?)" "p.(Pro315Ser)" "" "0000130497" "00002354" "99" "943" "0" "943" "0" "c.943C>T" "r.(?)" "p.(Pro315Ser)" "" "0000130498" "00002354" "99" "943" "0" "943" "0" "c.943C>T" "r.(?)" "p.(Pro315Ser)" "" "0000130499" "00002354" "99" "943" "0" "943" "0" "c.943C>T" "r.(?)" "p.(Pro315Ser)" "" "0000130500" "00002354" "99" "943" "0" "943" "0" "c.943C>T" "r.(?)" "p.(Pro315Ser)" "" "0000130501" "00002354" "99" "943" "0" "943" "0" "c.943C>T" "r.(?)" "p.(Pro315Ser)" "" "0000130502" "00002354" "99" "943" "0" "943" "0" "c.943C>T" "r.(?)" "p.(Pro315Ser)" "" "0000130503" "00002354" "99" "943" "0" "943" "0" "c.943C>T" "r.(?)" "p.(Pro315Ser)" "" "0000130505" "00002354" "99" "943" "0" "943" "0" "c.943C>T" "r.(?)" "p.(Pro315Ser)" "" "0000130506" "00002354" "99" "943" "0" "943" "0" "c.943C>T" "r.(?)" "p.(Pro315Ser)" "" "0000130507" "00002354" "99" "943" "0" "943" "0" "c.943C>T" "r.(?)" "p.(Pro315Ser)" "" "0000130508" "00002354" "99" "943" "0" "943" "0" "c.943C>T" "r.(?)" "p.(Pro315Ser)" "" "0000130509" "00002354" "99" "943" "0" "943" "0" "c.943C>T" "r.(?)" "p.(Pro315Ser)" "" "0000130510" "00002354" "99" "943" "0" "943" "0" "c.943C>T" "r.(?)" "p.(Pro315Ser)" "" "0000130514" "00002354" "79" "769" "0" "769" "0" "c.769dup" "r.(?)" "p.(Ile257Asnfs*6)" "5" "0000130515" "00002354" "99" "1094" "0" "1094" "0" "c.1094C>T" "r.(?)" "p.(Ser365Leu)" "" "0000130516" "00002354" "99" "471" "2" "471" "2" "c.471+2T>G" "r.spl?" "p.?" "" "0000130519" "00002354" "79" "332" "0" "332" "0" "c.332G>A" "r.(?)" "p.(Trp111*)" "2" "0000130520" "00002354" "79" "636" "0" "636" "0" "c.636T>G" "r.(?)" "p.(Ser212Arg)" "4" "0000130521" "00002354" "99" "1108" "-1" "1108" "-1" "c.1108-1G>C" "r.spl?" "p.?" "7i" "0000130522" "00002354" "99" "1108" "-1" "1108" "-1" "c.1108-1G>C" "r.spl?" "p.?" "7i" "0000130523" "00002354" "99" "1108" "-1" "1108" "-1" "c.1108-1G>C" "r.spl?" "p.?" "7i" "0000130524" "00002354" "99" "1108" "-1" "1108" "-1" "c.1108-1G>C" "r.spl?" "p.?" "7i" "0000130526" "00002354" "99" "1108" "-1" "1108" "-1" "c.1108-1G>C" "r.spl?" "p.?" "7i" "0000130527" "00002354" "99" "1108" "-1" "1108" "-1" "c.1108-1G>C" "r.spl?" "p.?" "7i" "0000130528" "00002354" "99" "1108" "-1" "1108" "-1" "c.1108-1G>C" "r.spl?" "p.?" "7i" "0000130529" "00002354" "99" "1108" "-1" "1108" "-1" "c.1108-1G>C" "r.spl?" "p.?" "7i" "0000130530" "00002354" "99" "1108" "-1" "1108" "-1" "c.1108-1G>C" "r.spl?" "p.?" "7i" "0000130534" "00002354" "99" "682" "0" "682" "0" "c.682C>T" "r.(?)" "p.(Arg228Cys)" "5" "0000130535" "00002354" "99" "682" "0" "682" "0" "c.682C>T" "r.(?)" "p.(Arg228Cys)" "5" "0000130536" "00002354" "99" "682" "0" "682" "0" "c.682C>T" "r.(?)" "p.(Arg228Cys)" "5" "0000130537" "00002354" "99" "682" "0" "682" "0" "c.682C>T" "r.(?)" "p.(Arg228Cys)" "5" "0000130538" "00002354" "99" "682" "0" "682" "0" "c.682C>T" "r.(?)" "p.(Arg228Cys)" "5" "0000130539" "00002354" "99" "682" "0" "682" "0" "c.682C>T" "r.(?)" "p.(Arg228Cys)" "5" "0000130540" "00002354" "79" "481" "0" "481" "0" "c.481del" "r.(?)" "p.(Ile161Leufs*14)" "4" "0000130541" "00002354" "79" "1087" "0" "1089" "0" "c.1087_1089del" "r.(?)" "p.(Val363del)" "7" "0000130542" "00002354" "79" "481" "0" "481" "0" "c.481del" "r.(?)" "p.(Ile161Leufs*14)" "4" "0000130543" "00002354" "79" "1087" "0" "1089" "0" "c.1087_1089del" "r.(?)" "p.(Val363del)" "7" "0000130544" "00002354" "99" "286" "0" "296" "0" "c.286_296del" "r.(?)" "p.(Tyr96Thrfs*39)" "" "0000130545" "00002354" "99" "1268" "0" "1268" "0" "c.1268G>A" "r.(?)" "p.(Arg423His)" "" "0000130546" "00002354" "99" "1223" "0" "1223" "0" "c.1223del" "r.(?)" "p.(Gly408Glufs*20)" "9" "0000130547" "00002354" "99" "551" "0" "551" "0" "c.551C>G" "r.(?)" "p.(Thr184Arg)" "" "0000130548" "00002354" "99" "942" "0" "944" "0" "c.942_944del" "r.(?)" "p.(Pro315del)" "" "0000130549" "00002354" "99" "529" "0" "529" "0" "c.529C>T" "r.(?)" "p.(Arg177*)" "4" "0000130550" "00002354" "99" "374" "0" "378" "0" "c.374_378del" "r.(?)" "p.(Ala125Glyfs*12)" "" "0000130551" "00002354" "99" "1108" "-1" "1108" "-1" "c.1108-1G>C" "r.spl?" "p.?" "" "0000130552" "00002354" "99" "1250" "0" "1265" "0" "c.1250_1265dup" "r.(?)" "p.(Arg423Tyrfs*19)" "9" "0000130553" "00002354" "99" "1108" "-1" "1108" "-1" "c.1108-1G>C" "r.spl?" "p.?" "" "0000130554" "00002354" "99" "1223" "0" "1223" "0" "c.1223dup" "r.(?)" "p.(Ala409Serfs*7)" "9" "0000130555" "00002354" "99" "1107" "2" "1107" "2" "c.1107+2T>G" "r.spl?" "p.?" "7i" "0000130556" "00002354" "99" "1139" "0" "1139" "0" "c.1139G>A" "r.(?)" "p.(Ser380Asn)" "8" "0000130557" "00002354" "99" "299" "0" "365" "0" "c.299_365dup" "r.(?)" "p.(Ile123Alafs*38)" "2" "0000130559" "00002354" "79" "1297" "0" "1298" "0" "c.1297_1298del" "r.(?)" "p.(Glu433Argfs*3)" "9" "0000130560" "00002354" "09" "835" "0" "835" "0" "c.835T>A" "r.(?)" "p.(Tyr279Asn)" "" "0000130561" "00002354" "79" "1157" "0" "1157" "0" "c.1157A>G" "r.(?)" "p.(Asn386Ser)" "8" "0000146838" "00002354" "79" "1210" "0" "1443" "2" "c.1210_1443+2del" "r.spl?" "p.?" "9" "0000146972" "00002354" "00" "1446" "0" "1446" "0" "c.1446A>T" "r.(=)" "p.(=)" "" "0000146973" "00002354" "79" "733" "0" "733" "0" "c.733G>A" "r.(?)" "p.(Asp245Asn)" "" "0000146974" "00002354" "79" "901" "0" "901" "0" "c.901G>C" "r.(?)" "p.(Ala301Pro)" "" "0000146975" "00002354" "00" "906" "0" "906" "0" "c.906del" "r.(?)" "p.(Phe302Leufs*12)" "" "0000146976" "00002354" "79" "1210" "0" "1443" "2" "c.1210_1443+2del" "r.spl?" "p.?" "9" "0000146977" "00002354" "00" "1446" "0" "1446" "0" "c.1446A>T" "r.(=)" "p.(=)" "10" "0000146978" "00002354" "79" "1210" "0" "1443" "2" "c.1210_1443+2del" "r.spl?" "p.?" "9" "0000146979" "00002354" "00" "1446" "0" "1446" "0" "c.1446A>T" "r.(=)" "p.(=)" "10" "0000146980" "00002354" "79" "1210" "0" "1443" "2" "c.1210_1443+2del" "r.spl?" "p.?" "9" "0000146981" "00002354" "00" "1446" "0" "1446" "0" "c.1446A>T" "r.(=)" "p.(=)" "10" "0000146982" "00002354" "79" "1210" "0" "1443" "2" "c.1210_1443+2del" "r.spl?" "p.?" "9" "0000146983" "00002354" "00" "1446" "0" "1446" "0" "c.1446A>T" "r.(=)" "p.(=)" "10" "0000146984" "00002354" "79" "471" "1" "471" "1" "c.471+1del" "r.spl?" "p.?" "" "0000146985" "00002354" "79" "471" "1" "471" "1" "c.471+1G>C" "r.spl?" "p.?" "" "0000146986" "00002354" "79" "1277" "0" "1277" "0" "c.1277T>G" "r.(?)" "p.(Leu426*)" "" "0000146987" "00002354" "79" "385" "2" "385" "2" "c.385+2T>C" "r.spl?" "p.?" "" "0000146988" "00002354" "00" "733" "0" "733" "0" "c.733G>A" "r.(?)" "p.(Asp245Asn)" "" "0000146989" "00002354" "00" "901" "0" "901" "0" "c.901G>C" "r.(?)" "p.(Ala301Pro)" "" "0000146990" "00002354" "79" "906" "0" "906" "0" "c.906del" "r.(?)" "p.(Phe302Leufs*12)" "" "0000146991" "00002354" "79" "1297" "0" "1298" "0" "c.1297_1298del" "r.(?)" "p.(Glu433Argfs*3)" "" "0000146992" "00002354" "00" "733" "0" "733" "0" "c.733G>A" "r.(?)" "p.(Asp245Asn)" "" "0000146993" "00002354" "00" "901" "0" "901" "0" "c.901G>C" "r.(?)" "p.(Ala301Pro)" "" "0000146994" "00002354" "79" "906" "0" "906" "0" "c.906del" "r.(?)" "p.(Phe302Leufs*12)" "" "0000146995" "00002354" "79" "1297" "0" "1298" "0" "c.1297_1298del" "r.(?)" "p.(Glu433Argfs*3)" "" "0000146996" "00002354" "79" "835" "0" "835" "0" "c.835T>A" "r.(?)" "p.(Tyr279Asn)" "" "0000146999" "00002354" "79" "710" "0" "710" "0" "c.710G>A" "r.(?)" "p.(Cys237Tyr)" "5" "0000147000" "00002354" "79" "1157" "0" "1157" "0" "c.1157A>G" "r.(?)" "p.(Asn386Ser)" "8" "0000147001" "00002354" "79" "1291" "0" "1292" "0" "c.1291_1292del" "r.(?)" "p.(Lys431Glufs*5)" "9" "0000147002" "00002354" "79" "1157" "0" "1157" "0" "c.1157A>G" "r.(?)" "p.(Asn386Ser)" "8" "0000147003" "00002354" "79" "1291" "0" "1292" "0" "c.1291_1292del" "r.(?)" "p.(Lys431Glufs*5)" "9" "0000147065" "00002354" "79" "28" "0" "28" "0" "c.28C>T" "r.(?)" "p.(Gln10*)" "1" "0000147066" "00002354" "79" "991" "0" "993" "0" "c.991_993del" "r.(?)" "p.(Glu331del)" "7" "0000147067" "00002354" "79" "28" "0" "28" "0" "c.28C>T" "r.(?)" "p.(Gln10*)" "1" "0000147068" "00002354" "79" "991" "0" "993" "0" "c.991_993del" "r.(?)" "p.(Glu331del)" "7" "0000147069" "00002354" "79" "901" "0" "901" "0" "c.901G>C" "r.(?)" "p.(Ala301Pro)" "6" "0000147070" "00002354" "79" "906" "0" "906" "0" "c.906del" "r.(?)" "p.(Phe302Leufs*12)" "6" "0000147071" "00002354" "79" "1297" "0" "1298" "0" "c.1297_1298del" "r.(?)" "p.(Glu433Argfs*3)" "9" "0000147080" "00002354" "79" "73" "0" "73" "0" "c.73C>T" "r.(?)" "p.(Gln25*)" "" "0000147081" "00002354" "79" "551" "0" "551" "0" "c.551C>T" "r.(?)" "p.(Thr184Met)" "" "0000147101" "00002354" "79" "103" "0" "103" "0" "c.103del" "r.(?)" "p.(Gln35Argfs*8)" "" "0000147103" "00002354" "79" "943" "0" "943" "0" "c.943C>T" "r.(?)" "p.(Pro315Ser)" "" "0000147104" "00002354" "79" "103" "0" "103" "0" "c.103del" "r.(?)" "p.(Gln35Argfs*8)" "" "0000147105" "00002354" "79" "317" "0" "317" "0" "c.317T>G" "r.(?)" "p.(Leu106Arg)" "" "0000147106" "00002354" "79" "678" "0" "678" "0" "c.678C>G" "r.(?)" "p.(Cys226Trp)" "" "0000147107" "00002354" "79" "943" "0" "943" "0" "c.943C>T" "r.(?)" "p.(Pro315Ser)" "" "0000147109" "00002354" "79" "864" "0" "864" "0" "c.864dup" "r.(?)" "p.(Lys289*)" "" "0000147111" "00002354" "79" "941" "0" "943" "0" "c.941_943delinsGGGCTAAAAGTACTGTTGGGG" "r.(?)" "p.(Ala314_Pro315delinsGlyAlaLysSerThrValGlyAla)" "" "0000147112" "00002354" "79" "1094" "0" "1094" "0" "c.1094C>T" "r.(?)" "p.(Ser365Leu)" "" "0000147114" "00002354" "79" "1234" "0" "1234" "0" "c.1234G>A" "r.(?)" "p.(Gly412Arg)" "" "0000147127" "00002354" "79" "1297" "0" "1298" "0" "c.1297_1298del" "r.(?)" "p.(Glu433Argfs*3)" "" "0000147128" "00002354" "79" "1297" "0" "1298" "0" "c.1297_1298del" "r.(?)" "p.(Glu433Argfs*3)" "" "0000152708" "00002354" "79" "529" "0" "529" "0" "c.529C>T" "r.(?)" "p.(Arg177*)" "4" "0000152709" "00002354" "79" "126" "0" "126" "0" "c.126del" "r.(?)" "p.(Thr43Argfs*64)" "1" "0000152728" "00002354" "99" "941" "0" "943" "0" "c.941_943delinsGGGCTAAAAGTACTGTTGGGG" "r.(?)" "p.(Ala314_Pro315delinsGlyAlaLysSerThrValGlyAla)" "" "0000152729" "00002354" "99" "641" "0" "641" "0" "c.641G>A" "r.(?)" "p.(Cys214Tyr)" "" "0000163223" "00002354" "99" "1297" "0" "1298" "0" "c.1297_1298del" "r.(?)" "p.(Glu433Argfs*3)" "" "0000163224" "00002354" "99" "1307" "0" "1311" "0" "c.1307_1311dup" "r.(?)" "p.(Leu438Thrfs*21)" "" "0000163225" "00002354" "99" "1094" "0" "1094" "0" "c.1094C>T" "r.(?)" "p.(Ser365Leu)" "" "0000163226" "00002354" "99" "471" "2" "471" "2" "c.471+2T>G" "r.spl?" "p.?" "" "0000163227" "00002354" "99" "798" "0" "798" "0" "c.798G>C" "r.(?)" "p.(Lys266Asn)" "" "0000163228" "00002354" "99" "943" "0" "943" "0" "c.943C>T" "r.(?)" "p.(Pro315Ser)" "" "0000163229" "00002354" "00" "386" "-6" "386" "-6" "c.386-6A>G" "r.(=)" "p.(=)" "" "0000163230" "00002354" "99" "554" "0" "554" "0" "c.554G>C" "r.(?)" "p.(Gly185Ala)" "" "0000165288" "00002354" "70" "1157" "0" "1157" "0" "c.1157A>G" "r.(?)" "p.(Asn386Ser)" "8" "0000174633" "00002354" "79" "371" "0" "373" "0" "c.371_373del" "r.(?)" "p.(Gly124del)" "2" "0000177874" "00002354" "79" "154" "0" "155" "0" "c.154_155del" "r.(?)" "p.(Ser52*)" "2" "0000177878" "00002354" "79" "536" "0" "536" "0" "c.536A>T" "r.(?)" "p.(Asp179Val)" "4" "0000177984" "00002354" "79" "682" "0" "682" "0" "c.682C>T" "r.(?)" "p.(Arg228Cys)" "" "0000178999" "00002354" "79" "682" "0" "682" "0" "c.682C>T" "r.(?)" "p.(Arg228Cys)" "" "0000183342" "00002354" "79" "764" "0" "764" "0" "c.764del" "r.(?)" "p.(Asn255Ilefs*11)" "" "0000183343" "00002354" "79" "682" "0" "682" "0" "c.682C>T" "r.(?)" "p.(Arg228Cys)" "" "0000183344" "00002354" "79" "710" "0" "710" "0" "c.710G>A" "r.(?)" "p.(Cys237Tyr)" "" "0000183345" "00002354" "79" "-58107" "0" "472" "-584" "c.-58107_472-584del" "r.(=)" "p.(=)" "" "0000236335" "00002354" "79" "1242" "0" "1243" "0" "c.1242_1243del" "r.(?)" "p.(His414Glnfs*3)" "" "0000236395" "00002354" "79" "631" "0" "631" "0" "c.631A>G" "r.(?)" "p.(Lys211Glu)" "4" "0000236400" "00002354" "79" "371" "0" "373" "0" "c.371_373del" "r.(?)" "p.(Gly124del)" "2" "0000236401" "00002354" "79" "733" "0" "733" "0" "c.733G>A" "r.(?)" "p.(Asp245Asn)" "" "0000236402" "00002354" "79" "901" "0" "901" "0" "c.901G>C" "r.(?)" "p.(Ala301Pro)" "" "0000236403" "00002354" "79" "906" "0" "906" "0" "c.906del" "r.(?)" "p.(Phe302Leufs*12)" "" "0000236404" "00002354" "79" "909" "0" "909" "0" "c.909T>G" "r.(=)" "p.(=)" "" "0000236405" "00002354" "79" "25" "0" "50" "0" "c.25_50del" "r.(?)" "p.(Arg9Alafs*36)" "" "0000236413" "00002354" "79" "25" "0" "50" "0" "c.25_50del" "r.(?)" "p.(Arg9Alafs*36)" "" "0000236414" "00002354" "79" "103" "0" "103" "0" "c.103C>T" "r.(?)" "p.(Gln35*)" "" "0000237862" "00002354" "79" "1157" "0" "1157" "0" "c.1157A>G" "r.(?)" "p.(Asn386Ser)" "" "0000237863" "00002354" "79" "551" "0" "551" "0" "c.551C>T" "r.(?)" "p.(Thr184Met)" "" "0000248690" "00002354" "10" "1446" "0" "1446" "0" "c.1446A>T" "r.(?)" "p.(Ala482=)" "" "0000255886" "00002354" "50" "119" "0" "119" "0" "c.119A>G" "r.(?)" "p.(Asp40Gly)" "" "0000256069" "00002354" "50" "1054" "0" "1054" "0" "c.1054A>G" "r.(?)" "p.(Ile352Val)" "" "0000259016" "00002354" "10" "681" "-37" "681" "-30" "c.681-37_681-30del" "r.(=)" "p.(=)" "" "0000259017" "00002354" "10" "940" "53" "940" "53" "c.940+53C>G" "r.(=)" "p.(=)" "" "0000259446" "00002354" "30" "1270" "0" "1270" "0" "c.1270C>T" "r.(?)" "p.(Pro424Ser)" "" "0000259447" "00002354" "30" "28" "0" "28" "0" "c.28C>G" "r.(?)" "p.(Gln10Glu)" "" "0000259743" "00002354" "90" "943" "0" "943" "0" "c.943C>T" "r.(?)" "p.(Pro315Ser)" "" "0000260053" "00002354" "90" "824" "0" "825" "0" "c.824_825del" "r.(?)" "p.(Glu275ValfsTer3)" "" "0000262210" "00002354" "30" "1270" "0" "1270" "0" "c.1270C>T" "r.(?)" "p.(Pro424Ser)" "" "0000262211" "00002354" "70" "1297" "0" "1298" "0" "c.1297_1298del" "r.(?)" "p.(Glu433ArgfsTer3)" "" "0000262212" "00002354" "50" "651" "0" "651" "0" "c.651T>G" "r.(?)" "p.(Asp217Glu)" "" "0000262213" "00002354" "30" "978" "0" "978" "0" "c.978G>C" "r.(?)" "p.(Lys326Asn)" "" "0000325290" "00002354" "50" "14" "0" "14" "0" "c.14T>C" "r.(?)" "p.(Val5Ala)" "" "0000325293" "00002354" "50" "1063" "0" "1063" "0" "c.1063C>T" "r.(?)" "p.(Arg355Cys)" "" "0000325295" "00002354" "50" "1443" "1202" "1443" "1202" "c.1443+1202A>G" "r.(=)" "p.(=)" "" "0000325298" "00002354" "50" "7450" "0" "7450" "0" "c.*5992G>A" "r.(=)" "p.(=)" "" "0000337416" "00002354" "10" "1446" "0" "1446" "0" "c.1446A>T" "r.(?)" "p.(Ala482=)" "" "0000348374" "00002354" "90" "943" "0" "943" "0" "c.943C>T" "r.(?)" "p.(Pro315Ser)" "" "0000368893" "00002354" "97" "683" "0" "683" "0" "c.683G>A" "r.(?)" "p.(Arg228His)" "" "0000368894" "00002354" "97" "683" "0" "683" "0" "c.683G>A" "r.(?)" "p.(Arg228His)" "" "0000368895" "00002354" "97" "683" "0" "683" "0" "c.683G>A" "r.(?)" "p.(Arg228His)" "" "0000368896" "00002354" "97" "683" "0" "683" "0" "c.683G>A" "r.(?)" "p.(Arg228His)" "" "0000368897" "00002354" "97" "683" "0" "683" "0" "c.683G>A" "r.(?)" "p.(Arg228His)" "" "0000368898" "00002354" "97" "683" "0" "683" "0" "c.683G>A" "r.(?)" "p.(Arg228His)" "" "0000368899" "00002354" "97" "683" "0" "683" "0" "c.683G>A" "r.(?)" "p.(Arg228His)" "" "0000368983" "00002354" "97" "798" "5" "798" "5" "c.798+5G>A" "r.spl?" "p.?" "" "0000368984" "00002354" "97" "1108" "-1" "1108" "-1" "c.1108-1G>C" "r.spl?" "p.?" "" "0000403784" "00002354" "97" "10" "0" "10" "0" "c.10G>T" "r.(?)" "p.(Glu4*)" "" "0000403785" "00002354" "97" "10" "0" "10" "0" "c.10G>T" "r.(?)" "p.(Glu4*)" "" "0000403786" "00002354" "97" "10" "0" "10" "0" "c.10G>T" "r.(?)" "p.(Glu4*)" "" "0000403836" "00002354" "97" "941" "0" "943" "0" "c.941_943delinsGGGCTAAAAGTACTGTTGGGG" "r.(?)" "p.(Ala314_Pro315delinsGlyAlaLysSerThrValGlyAla)" "" "0000403838" "00002354" "97" "941" "0" "943" "0" "c.941_943delinsGGGCTAAAAGTACTGTTGGGG" "r.(?)" "p.(Ala314_Pro315delinsGlyAlaLysSerThrValGlyAla)" "" "0000403840" "00002354" "97" "941" "0" "943" "0" "c.941_943delinsGGGCTAAAAGTACTGTTGGGG" "r.(?)" "p.(Ala314_Pro315delinsGlyAlaLysSerThrValGlyAla)" "" "0000403897" "00002354" "97" "805" "0" "805" "0" "c.805del" "r.(?)" "p.(Tyr269Metfs*5)" "6" "0000403900" "00002354" "97" "1297" "0" "1298" "0" "c.1297_1298del" "r.(?)" "p.(Glu433Argfs*3)" "" "0000403904" "00002354" "97" "1202" "0" "1202" "0" "c.1202G>A" "r.(?)" "p.(Gly401Glu)" "" "0000405668" "00002354" "97" "1157" "0" "1157" "0" "c.1157A>G" "r.(?)" "p.(Asn386Ser)" "" "0000405690" "00002354" "97" "1108" "-1" "1108" "-1" "c.1108-1G>C" "r.spl?" "p.?" "" "0000405691" "00002354" "97" "1108" "-1" "1108" "-1" "c.1108-1G>C" "r.spl?" "p.?" "" "0000405692" "00002354" "97" "24" "0" "25" "0" "c.24_25delinsTT" "r.(?)" "p.(Arg9*)" "" "0000405693" "00002354" "97" "24" "0" "25" "0" "c.24_25delinsTT" "r.(?)" "p.(Arg9*)" "" "0000405694" "00002354" "97" "1108" "-1" "1108" "-1" "c.1108-1G>C" "r.spl?" "p.?" "" "0000405695" "00002354" "97" "1108" "-1" "1108" "-1" "c.1108-1G>C" "r.spl?" "p.?" "" "0000405696" "00002354" "97" "325" "0" "325" "0" "c.325G>A" "r.(?)" "p.(Gly109Arg)" "" "0000405853" "00002354" "97" "953" "0" "953" "0" "c.953T>C" "r.(?)" "p.(Leu318Pro)" "" "0000405854" "00002354" "97" "680" "1" "680" "1" "c.680+1G>A" "r.spl?" "p.?" "" "0000405855" "00002354" "97" "798" "1" "798" "1" "c.798+1del" "r.spl?" "p.?" "" "0000405856" "00002354" "97" "680" "1" "680" "1" "c.680+1G>A" "r.spl?" "p.?" "" "0000405857" "00002354" "97" "798" "1" "798" "1" "c.798+1del" "r.spl?" "p.?" "" "0000405921" "00002354" "77" "682" "0" "682" "0" "c.682C>T" "r.(?)" "p.(Arg228Cys)" "" "0000560646" "00002354" "30" "28" "0" "28" "0" "c.28C>G" "r.(?)" "p.(Gln10Glu)" "" "0000560648" "00002354" "30" "386" "-6" "386" "-6" "c.386-6A>G" "r.(=)" "p.(=)" "" "0000560652" "00002354" "70" "682" "0" "682" "0" "c.682C>T" "r.(?)" "p.(Arg228Cys)" "" "0000560653" "00002354" "50" "940" "0" "940" "0" "c.940G>C" "r.(?)" "p.(Ala314Pro)" "" "0000560655" "00002354" "90" "943" "0" "943" "0" "c.943C>T" "r.(?)" "p.(Pro315Ser)" "" "0000560656" "00002354" "50" "989" "0" "989" "0" "c.989A>G" "r.(?)" "p.(Glu330Gly)" "" "0000560657" "00002354" "50" "1094" "0" "1094" "0" "c.1094C>T" "r.(?)" "p.(Ser365Leu)" "" "0000560658" "00002354" "30" "1208" "-3" "1208" "-3" "c.1208-3C>T" "r.spl?" "p.?" "" "0000560661" "00002354" "30" "1398" "0" "1398" "0" "c.1398C>T" "r.(?)" "p.(Leu466=)" "" "0000616432" "00002354" "30" "154" "-5" "154" "-5" "c.154-5A>G" "r.spl?" "p.?" "" "0000649515" "00002354" "30" "2920" "0" "2920" "0" "c.*1462G>A" "r.(=)" "p.(=)" "" "0000658061" "00002354" "30" "1443" "1265" "1443" "1265" "c.1443+1265G>A" "r.(=)" "p.(=)" "" "0000668263" "00002354" "90" "628" "0" "628" "0" "c.628G>A" "r.(?)" "p.(Gly210Arg)" "" "0000669388" "00002354" "30" "2920" "0" "2920" "0" "c.*1462G>A" "r.(=)" "p.(=)" "" "0000674730" "00002354" "90" "943" "0" "943" "0" "c.943C>T" "r.(?)" "p.(Pro315Ser)" "" "0000680808" "00002354" "90" "747" "0" "748" "0" "c.747_748del" "r.(?)" "p.(Cys249Ter)" "" "0000680809" "00002354" "50" "1443" "1264" "1443" "1264" "c.1443+1264A>G" "r.(=)" "p.(=)" "" "0000685000" "00002354" "70" "682" "0" "682" "0" "c.682C>T" "r.(?)" "p.(Arg228Cys)" "" "0000692287" "00002354" "90" "943" "0" "943" "0" "c.943C>T" "r.(?)" "p.(Pro315Ser)" "" "0000692288" "00002354" "90" "1297" "0" "1298" "0" "c.1297_1298del" "r.(?)" "p.(Glu433ArgfsTer3)" "" "0000726237" "00002354" "10" "386" "-6" "386" "-6" "c.386-6A>G" "r.(=)" "p.(=)" "" "0000726238" "00002354" "90" "1297" "0" "1298" "0" "c.1297_1298del" "r.(?)" "p.(Glu433ArgfsTer3)" "" "0000786729" "00002354" "90" "126" "0" "126" "0" "c.126delG" "r.(?)" "p.(Thr43ArgfsTer64)" "1" "0000807853" "00002354" "50" "1015" "0" "1015" "0" "c.1015A>G" "r.(?)" "p.(Ile339Val)" "" "0000811975" "00002354" "70" "682" "0" "682" "0" "c.682C>T" "r.(?)" "p.(Arg228Cys)" "" "0000817815" "00002354" "90" "551" "0" "551" "0" "c.551C>T" "r.(?)" "p.(Thr184Met)" "" "0000846509" "00002354" "70" "682" "0" "682" "0" "c.682C>T" "r.(?)" "p.(Arg228Cys)" "" "0000893392" "00002354" "30" "28" "0" "28" "0" "c.28C>G" "r.(?)" "p.(Gln10Glu)" "" "0000893393" "00002354" "30" "563" "0" "563" "0" "c.563C>T" "r.(?)" "p.(Ala188Val)" "" "0000982362" "00002354" "90" "1297" "0" "1298" "0" "c.1297_1298del" "r.(?)" "p.(Glu433ArgfsTer3)" "" "0000982363" "00002354" "30" "1494" "0" "1494" "0" "c.*36G>A" "r.(=)" "p.(=)" "" "0001003032" "00002354" "50" "1443" "1317" "1443" "1317" "c.1443+1317G>A" "r.(=)" "p.(=)" "" "0001041688" "00002354" "30" "681" "-9" "681" "-9" "c.681-9dup" "r.(=)" "p.(=)" "" "0001041689" "00002354" "30" "798" "4" "798" "4" "c.798+4T>G" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 249 "{{screeningid}}" "{{variantid}}" "0000064816" "0000096440" "0000064816" "0000096441" "0000074763" "0000127950" "0000079311" "0000127951" "0000079438" "0000128166" "0000079642" "0000128388" "0000079642" "0000128390" "0000079644" "0000128391" "0000079644" "0000128392" "0000079707" "0000128481" "0000079708" "0000128482" "0000079950" "0000128829" "0000079950" "0000128830" "0000079999" "0000128874" "0000079999" "0000128875" "0000080000" "0000128876" "0000080001" "0000128877" "0000080002" "0000128878" "0000080002" "0000128879" "0000080003" "0000128880" "0000080003" "0000128881" "0000080823" "0000129872" "0000080867" "0000129925" "0000080868" "0000129926" "0000080869" "0000129927" "0000080870" "0000129928" "0000080871" "0000129929" "0000081334" "0000130453" "0000081334" "0000130454" "0000081335" "0000130456" "0000081335" "0000130458" "0000081336" "0000130459" "0000081337" "0000130460" "0000081338" "0000130461" "0000081338" "0000130462" "0000081339" "0000130463" "0000081339" "0000130464" "0000081340" "0000130465" "0000081341" "0000130466" "0000081342" "0000130467" "0000081343" "0000130468" "0000081344" "0000130469" "0000081345" "0000130470" "0000081345" "0000130471" "0000081346" "0000130472" "0000081347" "0000130473" "0000081347" "0000130474" "0000081348" "0000130475" "0000081349" "0000130476" "0000081350" "0000130477" "0000081351" "0000130478" "0000081352" "0000130479" "0000081353" "0000130480" "0000081354" "0000130481" "0000081355" "0000130482" "0000081356" "0000130484" "0000081357" "0000130485" "0000081358" "0000130486" "0000081359" "0000130487" "0000081360" "0000130488" "0000081361" "0000130489" "0000081362" "0000130490" "0000081363" "0000130491" "0000081364" "0000130492" "0000081365" "0000130493" "0000081366" "0000130494" "0000081367" "0000130495" "0000081368" "0000130496" "0000081369" "0000130497" "0000081370" "0000130498" "0000081371" "0000130499" "0000081372" "0000130500" 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