### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HFM1) # 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}}" "HFM1" "HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)" "1" "p22.2" "unknown" "NG_034120.1" "UD_132319116548" "" "https://www.LOVD.nl/HFM1" "" "1" "20193" "164045" "615684" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/HFM1_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2022-02-16 21:14:50" "00006" "2024-09-16 12:12:04" ## 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}}" "00000608" "HFM1" "HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)" "001" "NM_001017975.3" "" "NP_001017975.3" "" "" "" "-99" "4832" "4308" "91726323" "91870426" "00000" "2012-09-13 12:39:16" "" "" "00025944" "HFM1" "transcript variant 1 (expired, new version available)" "001" "NM_001017975.6" "" "NP_001017975.5" "" "" "MANE select" "-99" "4832" "4308" "91870426" "91726323" "00006" "2024-09-16 12:09:16" "" "" ## 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}}" "00201" "INFM" "infertility, male (INFM)" "" "" "" "" "" "00006" "2013-09-14 21:03:39" "00006" "2015-12-07 07:11:25" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04064" "POF9" "ovarian failure, premature, type 9 (POF-9)" "AR" "615724" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04187" "POF" "ovarian failure, premature (POF)" "" "" "" "" "" "00006" "2015-02-14 15:50:12" "00006" "2015-12-08 23:53:05" "05472" "HYDM" "mole, hydatidiform, recurrent (HYDM)" "" "" "" "" "" "00006" "2018-09-29 23:17:06" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "HFM1" "04064" "HFM1" "04187" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00403089" "" "" "" "1" "" "00006" "{PMID:Kherraf 2022:35172124}, {DOI:Kherraf 2022:10.1016/j.ajhg.2022.01.011}" "analysis 96 unrelated men" "M" "" "Tunisia" "" "0" "" "" "" "P0369" "00403108" "" "" "" "2" "" "00006" "{PMID:Wang 2014:24597873}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "" "China" "" "0" "" "" "" "family" "00403109" "" "" "" "1" "" "00006" "{PMID:Wang 2014:24597873}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "China" "" "0" "" "" "" "PatF32" "00454562" "" "" "" "1" "" "00764" "" "" "F" "" "" "" "0" "" "" "" "" "00454564" "" "" "" "1" "" "00764" "" "" "F" "" "" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00000209" "01157" "00403089" "00201" "00403108" "04187" "00403109" "04187" "00454562" "05472" "00454564" "05472" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00201, 01157, 04064, 04187, 05472 ## Count = 4 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "0000295836" "00201" "00403089" "00006" "Familial, autosomal recessive" "" "left/right testis volume 5-10/5-10 mL; FSH 5.16 IU/L; testis meiotic spermatogenic arrest; sperm retrieval negative; no anosmia, no disorder of sex development, no abnormal secondary sex characteristics" "" "" "" "" "" "" "" "" "non-obstructive azoospermia" "0000295855" "04187" "00403108" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "POF9" "premature ovarian failure" "0000295856" "04187" "00403109" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "POF9" "premature ovarian failure" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000404330" "00403089" "1" "00006" "00006" "2022-02-16 19:52:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000404349" "00403108" "1" "00006" "00006" "2022-02-16 21:21:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000404350" "00403109" "1" "00006" "00006" "2022-02-16 21:39:24" "" "" "SEQ" "DNA" "" "" "0000456175" "00454562" "1" "00764" "00764" "2024-09-14 16:04:48" "" "" "SEQ-NG-I" "DNA" "" "" "0000456177" "00454564" "1" "00764" "00764" "2024-09-14 16:15:16" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000404330" "HFM1" "0000404350" "HFM1" "0000456175" "HFM1" "0000456177" "HFM1" ## 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 = 13 "{{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}}" "0000011428" "3" "50" "1" "91801667" "91801667" "subst" "0" "00037" "HFM1_000001" "g.91801667G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.91336110G>C" "" "VUS" "" "0000605993" "0" "50" "1" "91784847" "91784848" "del" "0" "01943" "HFM1_000002" "g.91784847_91784848del" "" "" "" "HFM1(NM_001017975.4):c.2680+3_2680+4delAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91319290_91319291del" "" "VUS" "" "0000605994" "0" "30" "1" "91850743" "91850743" "subst" "0" "01943" "HFM1_000003" "g.91850743C>G" "" "" "" "HFM1(NM_001017975.4):c.802+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91385186C>G" "" "likely benign" "" "0000688259" "0" "30" "1" "91845709" "91845709" "subst" "8.45805E-5" "01943" "HFM1_000004" "g.91845709A>G" "" "" "" "HFM1(NM_001017975.4):c.958T>C (p.L320=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000840000" "3" "90" "1" "91742184" "91742184" "subst" "1.99882E-5" "00006" "HFM1_000009" "g.91742184C>T" "" "{PMID:Kherraf 2022:35172124}, {DOI:Kherraf 2022:10.1016/j.ajhg.2022.01.011}" "" "NM_001017975.6:c.3588+1G>A" "" "Germline" "" "" "0" "" "" "g.91276627C>T" "" "pathogenic (recessive)" "" "0000840023" "11" "70" "1" "91784879" "91784879" "subst" "4.06369E-6" "00006" "HFM1_000005" "g.91784879A>C" "" "{PMID:Wang 2014:24597873}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000840024" "21" "77" "1" "91818857" "91818857" "subst" "0" "00006" "HFM1_000006" "g.91818857C>G" "" "{PMID:Wang 2014:24597873}" "" "" "" "Germline" "yes" "" "0" "" "" "g.91353300C>G" "" "likely pathogenic (recessive)" "" "0000840031" "1" "70" "1" "91816295" "91816295" "subst" "0" "00006" "HFM1_000007" "g.91816295C>T" "1/96 cases POF" "{PMID:Wang 2014:24597873}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000840032" "2" "70" "1" "91731618" "91731619" "delins" "0" "00006" "HFM1_000008" "g.91731618_91731619delinsC" "1/96 cases POF" "{PMID:Wang 2014:24597873}" "" "" "" "Germline" "" "" "0" "" "" "g.91266061_91266062delinsC" "" "likely pathogenic (recessive)" "" "0000923255" "0" "50" "1" "91809014" "91809014" "subst" "0.00184491" "02325" "HFM1_000010" "g.91809014C>T" "" "" "" "HFM1(NM_001017975.6):c.2308G>A (p.D770N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974148" "0" "50" "1" "91739270" "91739270" "subst" "0.000707772" "01804" "HFM1_000011" "g.91739270T>C" "" "" "" "HFM1(NM_001017975.6):c.3771A>G (p.(Lys1257=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001008357" "3" "90" "1" "91781387" "91781387" "dup" "0" "00764" "HFM1_000012" "g.91781387dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.91315830dup" "" "pathogenic" "" "0001008360" "1" "90" "1" "91844038" "91844038" "subst" "0" "00764" "HFM1_000013" "g.91844038C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.91378481C>T" "" "likely pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes HFM1 ## Count = 15 "{{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}}" "0000011428" "00000608" "50" "2335" "7320" "2335" "7320" "c.2335+7320C>G" "" "p.(=)" "" "0000605993" "00000608" "50" "2680" "3" "2680" "4" "c.2680+3_2680+4del" "r.spl?" "p.?" "" "0000605994" "00000608" "30" "802" "1" "802" "1" "c.802+1G>C" "r.spl?" "p.?" "" "0000688259" "00000608" "30" "958" "0" "958" "0" "c.958T>C" "r.(?)" "p.(=)" "" "0000840000" "00000608" "90" "3588" "1" "3588" "1" "c.3588+1G>A" "r.spl?" "p.?" "" "0000840023" "00000608" "70" "2651" "0" "2651" "0" "c.2651T>G" "r.(?)" "p.(Ile884Ser)" "" "0000840024" "00025944" "77" "1686" "-1" "1686" "-1" "c.1686-1G>C" "r.spl" "p.?" "13i" "0000840031" "00000608" "70" "2206" "0" "2206" "0" "c.2206G>A" "r.spl?" "p.(Gly736Ser)" "" "0000840032" "00000608" "70" "3929" "0" "3930" "0" "c.3929_3930delinsG" "r.(?)" "p.(Pro1310Argfs*41)" "" "0000923255" "00025944" "50" "2308" "0" "2308" "0" "c.2308G>A" "r.(?)" "p.(Asp770Asn)" "" "0000923255" "00000608" "50" "2308" "0" "2308" "0" "c.2308G>A" "r.(?)" "p.(Asp770Asn)" "" "0000974148" "00025944" "50" "3771" "0" "3771" "0" "c.3771A>G" "r.(?)" "p.(Lys1257=)" "" "0000974148" "00000608" "50" "3771" "0" "3771" "0" "c.3771A>G" "r.(?)" "p.(=)" "" "0001008357" "00000608" "90" "3124" "0" "3124" "0" "c.3124dup" "r.(?)" "p.(Tyr1042Leufs*18)" "" "0001008360" "00025944" "90" "1159" "-1" "1159" "-1" "c.1159-1G>A" "r.spl" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000000210" "0000011428" "0000404330" "0000840000" "0000404349" "0000840023" "0000404349" "0000840024" "0000404350" "0000840031" "0000404350" "0000840032" "0000456175" "0001008357" "0000456177" "0001008360"