### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = HYLS1)
# 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}}"
"HYLS1" "hydrolethalus syndrome 1" "11" "q24" "unknown" "NG_011842.1" "UD_132118475877" "{PMID:Mee et al. 2005:15843405}, {PMID:Honkala et al. 2009:19400947}" "https://www.LOVD.nl/HYLS1" "Finnish Disease Database (FinDis) " "1" "26558" "219844" "610693" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement nº 200754 - the GEN2PHEN project.\r\n\r\nThis database was initially part of the Finnish Disease Resource (FinDis; Polvi et al: Hum Mutat. 2013:34:1458-66). We gratefully acknowledge the support of Juha Muilu acting as curator until 2015." "" "g" "http://databases.lovd.nl/shared/refseq/HYLS1_codingDNA.html" "1" "" "" "-1" "" "-1" "00008" "2012-09-25 00:00:00" "00006" "2019-07-21 20:33:07" "00000" "2025-05-05 21:14:00"
## Transcripts ## Do not remove or alter this header ##
## Count = 2
"{{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}}"
"00001717" "HYLS1" "transcript variant 1" "001" "NM_145014.2" "" "NP_659451.1" "" "" "" "-534" "1278" "900" "125753509" "125770541" "00008" "2012-09-26 18:12:14" "" ""
"00001724" "HYLS1" "transcript variant 2" "002" "NM_001134793.1" "" "NP_001128265.1" "" "" "" "-781" "1278" "900" "125756955" "125770541" "00015" "2012-11-01 12:49:11" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 1
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00059" "HLS1" "hydrolethalus syndrome, type 1 (HLS-1)" "AR" "236680" "" "" "" "00008" "2012-09-26 18:11:31" "00006" "2021-12-10 21:51:32"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"HYLS1" "00059"
## Individuals ## Do not remove or alter this header ##
## Count = 0
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 0
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00059
## Count = 0
## Screenings ## Do not remove or alter this header ##
## Count = 0
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 0
## 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 = 21
"{{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}}"
"0000016597" "0" "99" "11" "125769895" "125769895" "subst" "0.00113702" "00015" "HYLS1_000001" "g.125769895A>G" "" "{PMID:Mee et al. 2005:15843405}, {PMID:Paetau et al. 2008:18648327}" "" "D211G" "Finnish HLS1 Founder mutation: More than 64 Finnish cases (hom) with HLS1" "SUMMARY record" "yes" "rs104894232" "0" "" "" "g.125900000A>G" "" "pathogenic" ""
"0000297515" "0" "10" "11" "125769354" "125769354" "subst" "0.280245" "02325" "HYLS1_000002" "g.125769354T>C" "" "" "" "HYLS1(NM_001134793.2):c.91T>C (p.C31R), PUS3(NM_031307.4):c.-46-3129A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.125899459T>C" "" "benign" ""
"0000542896" "0" "50" "11" "125769318" "125769318" "subst" "8.5282E-5" "01943" "HYLS1_000005" "g.125769318C>T" "" "" "" "HYLS1(NM_001134793.1):c.55C>T (p.R19*), HYLS1(NM_001134793.2):c.55C>T (p.(Arg19Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125899423C>T" "" "VUS" ""
"0000542897" "0" "30" "11" "125773062" "125773062" "subst" "0" "01804" "HYLS1_000006" "g.125773062T>C" "" "" "" "PUS3(NM_001271985.1):c.-247+3A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125903167T>C" "" "likely benign" ""
"0000542898" "0" "30" "11" "125775498" "125775498" "subst" "2.62809E-5" "01804" "HYLS1_000007" "g.125775498A>G" "" "" "" "DDX25(NM_013264.4):c.175+6A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125905603A>G" "" "likely benign" ""
"0000656733" "0" "10" "11" "125769731" "125769731" "subst" "0.00227487" "01943" "HYLS1_000008" "g.125769731A>G" "" "" "" "HYLS1(NM_001134793.1):c.468A>G (p.L156=), HYLS1(NM_145014.2):c.468A>G (p.L156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125899836A>G" "" "benign" ""
"0000804977" "0" "30" "11" "125761378" "125761378" "subst" "0" "02326" "HYLS1_000009" "g.125761378G>A" "" "" "" "HYLS1(NM_145014.2):c.-81+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000804978" "0" "30" "11" "125761394" "125761395" "dup" "0" "02326" "HYLS1_000010" "g.125761394_125761395dup" "" "" "" "HYLS1(NM_145014.2):c.-81+26_-81+27dupAA, HYLS1(NM_145014.2):c.-81+27_-81+28dupAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000804979" "0" "30" "11" "125761395" "125761395" "dup" "0" "02326" "HYLS1_000011" "g.125761395dup" "" "" "" "HYLS1(NM_145014.2):c.-81+28dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000852798" "0" "10" "11" "125769536" "125769536" "subst" "0.00210794" "02326" "HYLS1_000012" "g.125769536G>T" "" "" "" "HYLS1(NM_145014.2):c.273G>T (p.K91N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000889680" "0" "30" "11" "125766022" "125766022" "subst" "0.00291977" "02325" "HYLS1_000013" "g.125766022C>T" "" "" "" "PUS3(NM_031307.4):c.158G>A (p.R53H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000889681" "0" "30" "11" "125769731" "125769731" "subst" "0.00227487" "02326" "HYLS1_000008" "g.125769731A>G" "" "" "" "HYLS1(NM_001134793.1):c.468A>G (p.L156=), HYLS1(NM_145014.2):c.468A>G (p.L156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000929818" "0" "30" "11" "125769564" "125769564" "subst" "0" "02326" "HYLS1_000014" "g.125769564A>C" "" "" "" "HYLS1(NM_145014.2):c.301A>C (p.R101=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000949609" "0" "90" "11" "125769294" "125769294" "del" "8.12242E-6" "02326" "HYLS1_000015" "g.125769294del" "" "" "" "HYLS1(NM_145014.2):c.31delT (p.W11Gfs*46)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000979430" "0" "50" "11" "125765546" "125765546" "subst" "1.64002E-5" "01804" "HYLS1_000016" "g.125765546G>A" "" "" "" "PUS3(NM_031307.4):c.517C>T (p.(Arg173Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000979431" "0" "70" "11" "125765968" "125765968" "subst" "6.49757E-5" "01804" "PUS3_000013" "g.125765968T>C" "" "" "" "PUS3(NM_031307.4):c.212A>G (p.(Tyr71Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000979432" "0" "50" "11" "125769988" "125769988" "subst" "5.27897E-5" "01804" "HYLS1_000017" "g.125769988G>A" "" "" "" "HYLS1(NM_001134793.2):c.725G>A (p.(Arg242Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000979433" "0" "50" "11" "125770090" "125770090" "subst" "4.06075E-6" "01804" "HYLS1_000018" "g.125770090G>A" "" "" "" "HYLS1(NM_001134793.2):c.827G>A (p.(Arg276His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000979434" "0" "50" "11" "125770159" "125770161" "del" "0" "01804" "HYLS1_000019" "g.125770159_125770161del" "" "" "" "HYLS1(NM_001134793.2):c.896_898del (p.(Ser299del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001038309" "0" "50" "11" "125769318" "125769318" "subst" "8.5282E-5" "01804" "HYLS1_000005" "g.125769318C>T" "" "" "" "HYLS1(NM_001134793.1):c.55C>T (p.R19*), HYLS1(NM_001134793.2):c.55C>T (p.(Arg19Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001038310" "0" "50" "11" "125770090" "125770090" "subst" "0" "01804" "HYLS1_000020" "g.125770090G>T" "" "" "" "HYLS1(NM_001134793.2):c.827G>T (p.(Arg276Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes HYLS1
## Count = 41
"{{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}}"
"0000016597" "00001717" "99" "632" "0" "632" "0" "c.632A>G" "r.632a>g" "p.Asp211Gly" "05"
"0000297515" "00001717" "10" "91" "0" "91" "0" "c.91T>C" "r.(?)" "p.(Cys31Arg)" ""
"0000297515" "00001724" "10" "91" "0" "91" "0" "c.91T>C" "r.(?)" "p.(Cys31Arg)" ""
"0000542896" "00001717" "50" "55" "0" "55" "0" "c.55C>T" "r.(?)" "p.(Arg19Ter)" ""
"0000542896" "00001724" "50" "55" "0" "55" "0" "c.55C>T" "r.(?)" "p.(Arg19Ter)" ""
"0000542897" "00001717" "30" "3799" "0" "3799" "0" "c.*2899T>C" "r.(=)" "p.(=)" ""
"0000542897" "00001724" "30" "3799" "0" "3799" "0" "c.*2899T>C" "r.(=)" "p.(=)" ""
"0000542898" "00001717" "30" "6235" "0" "6235" "0" "c.*5335A>G" "r.(=)" "p.(=)" ""
"0000542898" "00001724" "30" "6235" "0" "6235" "0" "c.*5335A>G" "r.(=)" "p.(=)" ""
"0000656733" "00001717" "10" "468" "0" "468" "0" "c.468A>G" "r.(?)" "p.(Leu156=)" ""
"0000656733" "00001724" "10" "468" "0" "468" "0" "c.468A>G" "r.(?)" "p.(Leu156=)" ""
"0000804977" "00001717" "30" "-81" "11" "-81" "11" "c.-81+11G>A" "r.(=)" "p.(=)" ""
"0000804977" "00001724" "30" "-26" "11" "-26" "11" "c.-26+11G>A" "r.(=)" "p.(=)" ""
"0000804978" "00001717" "30" "-81" "27" "-81" "28" "c.-81+27_-81+28dup" "r.(=)" "p.(=)" ""
"0000804978" "00001724" "30" "-26" "27" "-26" "28" "c.-26+27_-26+28dup" "r.(=)" "p.(=)" ""
"0000804979" "00001717" "30" "-81" "28" "-81" "28" "c.-81+28dup" "r.(=)" "p.(=)" ""
"0000804979" "00001724" "30" "-26" "28" "-26" "28" "c.-26+28dup" "r.(=)" "p.(=)" ""
"0000852798" "00001717" "10" "273" "0" "273" "0" "c.273G>T" "r.(?)" "p.(Lys91Asn)" ""
"0000852798" "00001724" "10" "273" "0" "273" "0" "c.273G>T" "r.(?)" "p.(Lys91Asn)" ""
"0000889680" "00001717" "30" "-80" "-2977" "-80" "-2977" "c.-80-2977C>T" "r.(=)" "p.(=)" ""
"0000889680" "00001724" "30" "-25" "-3217" "-25" "-3217" "c.-25-3217C>T" "r.(=)" "p.(=)" ""
"0000889681" "00001717" "30" "468" "0" "468" "0" "c.468A>G" "r.(?)" "p.(Leu156=)" ""
"0000889681" "00001724" "30" "468" "0" "468" "0" "c.468A>G" "r.(?)" "p.(Leu156=)" ""
"0000929818" "00001717" "30" "301" "0" "301" "0" "c.301A>C" "r.(?)" "p.(=)" ""
"0000929818" "00001724" "30" "301" "0" "301" "0" "c.301A>C" "r.(?)" "p.(=)" ""
"0000949609" "00001717" "90" "31" "0" "31" "0" "c.31del" "r.(?)" "p.(Trp11Glyfs*46)" ""
"0000949609" "00001724" "90" "31" "0" "31" "0" "c.31del" "r.(?)" "p.(Trp11Glyfs*46)" ""
"0000979430" "00001717" "50" "-80" "-3453" "-80" "-3453" "c.-80-3453G>A" "r.(=)" "p.(=)" ""
"0000979430" "00001724" "50" "-25" "-3693" "-25" "-3693" "c.-25-3693G>A" "r.(=)" "p.(=)" ""
"0000979431" "00001717" "70" "-80" "-3031" "-80" "-3031" "c.-80-3031T>C" "r.(=)" "p.(=)" ""
"0000979431" "00001724" "70" "-25" "-3271" "-25" "-3271" "c.-25-3271T>C" "r.(=)" "p.(=)" ""
"0000979432" "00001717" "50" "725" "0" "725" "0" "c.725G>A" "r.(?)" "p.(Arg242Gln)" ""
"0000979432" "00001724" "50" "725" "0" "725" "0" "c.725G>A" "r.(?)" "p.(Arg242Gln)" ""
"0000979433" "00001717" "50" "827" "0" "827" "0" "c.827G>A" "r.(?)" "p.(Arg276His)" ""
"0000979433" "00001724" "50" "827" "0" "827" "0" "c.827G>A" "r.(?)" "p.(Arg276His)" ""
"0000979434" "00001717" "50" "896" "0" "898" "0" "c.896_898del" "r.(?)" "p.(Ser299*)" ""
"0000979434" "00001724" "50" "896" "0" "898" "0" "c.896_898del" "r.(?)" "p.(Ser299*)" ""
"0001038309" "00001717" "50" "55" "0" "55" "0" "c.55C>T" "r.(?)" "p.(Arg19Ter)" ""
"0001038309" "00001724" "50" "55" "0" "55" "0" "c.55C>T" "r.(?)" "p.(Arg19Ter)" ""
"0001038310" "00001717" "50" "827" "0" "827" "0" "c.827G>T" "r.(?)" "p.(Arg276Leu)" ""
"0001038310" "00001724" "50" "827" "0" "827" "0" "c.827G>T" "r.(?)" "p.(Arg276Leu)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 0