### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FA2H) # 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}}" "FA2H" "fatty acid 2-hydroxylase" "16" "q23" "unknown" "NG_017070.1" "UD_132118776546" "" "http://www.LOVD.nl/FA2H" "" "1" "21197" "79152" "611026" "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/FA2H_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-12-01 07:59:25" "00000" "2025-11-01 13:22:20" ## 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}}" "00007352" "FA2H" "fatty acid 2-hydroxylase" "001" "NM_024306.4" "" "NP_077282.3" "" "" "" "-76" "2354" "1119" "74808729" "74746853" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03122" "SPG35" "paraplegia, spastic, autosomal recessive, type 35 (SPG-35)" "AR" "612319" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03784" "SPG53" "paraplegia, spastic, type 53, autosomal recessive (SPG-53)" "AR" "614898" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "FA2H" "03122" ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{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}}" "00054873" "" "" "" "1" "" "01479" "{PMID:van de Warrenburg 2016:27165006}, {DOI:van de Warrenburg 2016: 10.1038/ejhg.2016.42}" "" "M" "" "" "" "0" "" "" "" "Pat16" "00291542" "" "" "" "99" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291543" "" "" "" "100" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291544" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308033" "" "" "" "1" "" "00006" "{PMID:Mahler 2019:31056085}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "no" "Germany" "" "0" "" "" "" "Pat12" "00374729" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-5839" "00404049" "" "" "" "1" "" "00435" "" "" "M" "yes" "Egypt" "" "" "" "" "" "" "00435460" "" "" "" "1" "" "01164" "" "" "M" "likely" "Turkey" "" "0" "" "" "" "154321" "00443432" "" "" "" "3" "" "00006" "{PMID:Saadi 2023:37510308}" "5-generation family, 3 affected sibs (2F, M), unaffected heterozygous parents/relatives" "F" "yes" "Pakistan" "" "0" "" "" "" "FamGPatV1" "00443433" "" "" "00443432" "1" "" "00006" "{PMID:Saadi 2023:37510308}" "sister" "F" "yes" "Pakistan" "" "0" "" "" "" "FamGPatV2" "00443434" "" "" "00443432" "1" "" "00006" "{PMID:Saadi 2023:37510308}" "brother" "M" "yes" "Pakistan" "" "0" "" "" "" "FamGPatV3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00054873" "03784" "00291542" "00198" "00291543" "00198" "00291544" "00198" "00308033" "00198" "00374729" "00198" "00404049" "03122" "00435460" "03122" "00443432" "00198" "00443433" "00198" "00443434" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03122, 03784 ## Count = 8 "{{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}}" "0000041537" "03784" "00054873" "01479" "Familial, autosomal recessive" "" "SPG, ataxia, hypomimia" "04y" "" "" "" "" "" "" "" "SPG53" "hereditary spastic paraplegia" "" "0000233459" "00198" "00308033" "00006" "Familial, autosomal recessive" "" "mild global developmental delay, neurodegenerative disorder" "" "" "" "" "" "" "" "" "SPG35" "developmental delay" "" "0000269939" "00198" "00374729" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "spasticity" "" "0000296642" "03122" "00404049" "00435" "Familial, autosomal recessive" "52y" "52-y man with progressive spasticity and weakness of both lower limbs, cognitive impairment (mild/moderate) and slurred speech." "35y" "" "" "" "" "" "" "" "SPG35" "HSP" "" "0000325651" "03122" "00435460" "01164" "Familial, autosomal recessive" "16y" "Strabismus, Ataxia, Gait disturbance, Muscle weakness,\r\nMyoclonus, Brisk reflexes, Gait imbalance, Skeletal muscle atrophy,\r\nMyalgia, Babinski sign, Myoclonic spasms, Pontocerebellar atrophy,\r\nHypoplasia of the pons, Low levels of vitamin D" "" "" "" "" "" "" "" "" "" "" "" "0000332773" "00198" "00443432" "00006" "Familial, autosomal recessive" "10y" "no ambulation, hyperreflexia, lower limbs muscle atrophy" "3y" "" "" "" "" "" "" "" "SPG35" "spastic paraplegia" "" "0000332774" "00198" "00443433" "00006" "Familial, autosomal recessive" "4y" "ataxic gait, hyperreflexia, lower limbs muscle atrophy" "3y" "" "" "" "" "" "" "" "SPG35" "spastic paraplegia" "" "0000332775" "00198" "00443434" "00006" "Familial, autosomal recessive" "3y" "mild ataxic gait" "3y" "" "" "" "" "" "" "" "SPG35" "spastic paraplegia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000054825" "00054873" "1" "01479" "01479" "2015-11-30 16:13:38" "" "" "SEQ-NG" "DNA" "" "" "0000292710" "00291542" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292711" "00291543" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292712" "00291544" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309177" "00308033" "1" "00006" "00006" "2020-08-25 19:47:51" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000375923" "00374729" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000405288" "00404049" "1" "00435" "00435" "2022-02-25 15:26:54" "" "" "SEQ" "DNA" "blood" "" "0000436939" "00435460" "1" "01164" "01164" "2023-07-28 12:04:05" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000444921" "00443432" "1" "00006" "00006" "2023-11-26 13:31:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444922" "00443433" "1" "00006" "00006" "2023-11-26 13:31:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444923" "00443434" "1" "00006" "00006" "2023-11-26 13:31:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000054825" "FA2H" "0000309177" "FA2H" "0000375923" "FA2H" "0000405288" "FA2H" "0000436939" "FA2H" ## 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 = 68 "{{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}}" "0000084841" "0" "90" "16" "74760182" "74760182" "subst" "4.06858E-6" "01479" "FA2H_000001" "g.74760182C>T" "" "{PMID:van de Warrenburg 2016:27165006}, {DOI:van de Warrenburg 2016: 10.1038/ejhg.2016.42}" "" "" "" "Germline" "" "" "0" "" "" "g.74726284C>T" "" "pathogenic" "" "0000084842" "0" "90" "16" "74808638" "74808638" "del" "0" "01479" "FA2H_000002" "g.74808638del" "" "{PMID:van de Warrenburg 2016:27165006}, {DOI:van de Warrenburg 2016: 10.1038/ejhg.2016.42}" "" "" "" "Germline" "" "" "0" "" "" "g.74774740del" "" "pathogenic" "" "0000250127" "0" "10" "16" "74750351" "74750351" "subst" "0.0371907" "02329" "FA2H_000005" "g.74750351A>G" "" "" "" "FA2H(NM_024306.5):c.933T>C (p.(Tyr311=), p.Y311=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74716453A>G" "" "benign" "" "0000250230" "0" "10" "16" "74750237" "74750237" "subst" "0.0412073" "02329" "FA2H_000004" "g.74750237A>G" "" "" "" "FA2H(NM_024306.5):c.1039+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74716339A>G" "" "benign" "" "0000250480" "0" "10" "16" "74750229" "74750229" "subst" "0.0366573" "02329" "FA2H_000003" "g.74750229A>C" "" "" "" "FA2H(NM_024306.5):c.1039+16T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74716331A>C" "" "benign" "" "0000267962" "0" "30" "16" "74760199" "74760199" "subst" "0.00221963" "02325" "FA2H_000011" "g.74760199C>T" "" "" "" "FA2H(NM_024306.4):c.537G>A (p.L179=), FA2H(NM_024306.5):c.537G>A (p.L179=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74726301C>T" "" "likely benign" "" "0000268947" "0" "10" "16" "74808425" "74808425" "subst" "0.276561" "02329" "FA2H_000013" "g.74808425G>A" "" "" "" "FA2H(NM_024306.4):c.229C>T (p.L77=), FA2H(NM_024306.5):c.229C>T (p.L77=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74774527G>A" "" "benign" "" "0000268948" "0" "30" "16" "74773995" "74773995" "subst" "0.00940025" "02329" "FA2H_000012" "g.74773995G>C" "" "" "" "FA2H(NM_024306.5):c.289C>G (p.(Pro97Ala), p.P97A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74740097G>C" "" "likely benign" "" "0000268949" "0" "10" "16" "74750396" "74750396" "subst" "0.115487" "02329" "FA2H_000006" "g.74750396T>C" "" "" "" "FA2H(NM_024306.4):c.888A>G (p.V296=), FA2H(NM_024306.5):c.888A>G (p.V296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74716498T>C" "" "benign" "" "0000271377" "0" "30" "16" "74773995" "74773995" "subst" "0.00940025" "02326" "FA2H_000012" "g.74773995G>C" "" "" "" "FA2H(NM_024306.5):c.289C>G (p.(Pro97Ala), p.P97A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74740097G>C" "" "likely benign" "" "0000276522" "0" "10" "16" "74808425" "74808425" "subst" "0.276561" "01943" "FA2H_000013" "g.74808425G>A" "" "" "" "FA2H(NM_024306.4):c.229C>T (p.L77=), FA2H(NM_024306.5):c.229C>T (p.L77=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74774527G>A" "" "benign" "" "0000276523" "0" "30" "16" "74760166" "74760166" "subst" "0.00102086" "01943" "FA2H_000010" "g.74760166G>T" "" "" "" "FA2H(NM_024306.4):c.570C>A (p.T190=), FA2H(NM_024306.5):c.570C>A (p.T190=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74726268G>T" "" "likely benign" "" "0000276524" "0" "30" "16" "74752939" "74752939" "subst" "6.50412E-5" "01943" "FA2H_000009" "g.74752939C>T" "" "" "" "FA2H(NM_024306.4):c.733G>A (p.D245N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74719041C>T" "" "likely benign" "" "0000276525" "0" "30" "16" "74750486" "74750486" "subst" "3.79776E-5" "01943" "FA2H_000008" "g.74750486G>A" "" "" "" "FA2H(NM_024306.4):c.798C>T (p.D266=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74716588G>A" "" "likely benign" "" "0000276526" "0" "30" "16" "74750437" "74750437" "subst" "0.000583836" "01943" "FA2H_000007" "g.74750437C>T" "" "" "" "FA2H(NM_024306.4):c.847G>A (p.V283I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74716539C>T" "" "likely benign" "" "0000276527" "0" "10" "16" "74750396" "74750396" "subst" "0.115487" "01943" "FA2H_000006" "g.74750396T>C" "" "" "" "FA2H(NM_024306.4):c.888A>G (p.V296=), FA2H(NM_024306.5):c.888A>G (p.V296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74716498T>C" "" "benign" "" "0000338695" "0" "10" "16" "74750229" "74750229" "subst" "0.0366573" "02327" "FA2H_000003" "g.74750229A>C" "" "" "" "FA2H(NM_024306.5):c.1039+16T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74716331A>C" "" "benign" "" "0000338696" "0" "10" "16" "74750237" "74750237" "subst" "0.0412073" "02327" "FA2H_000004" "g.74750237A>G" "" "" "" "FA2H(NM_024306.5):c.1039+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74716339A>G" "" "benign" "" "0000340425" "0" "10" "16" "74750351" "74750351" "subst" "0.0371907" "02327" "FA2H_000005" "g.74750351A>G" "" "" "" "FA2H(NM_024306.5):c.933T>C (p.(Tyr311=), p.Y311=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74716453A>G" "" "benign" "" "0000340426" "0" "10" "16" "74750396" "74750396" "subst" "0.115487" "02327" "FA2H_000006" "g.74750396T>C" "" "" "" "FA2H(NM_024306.4):c.888A>G (p.V296=), FA2H(NM_024306.5):c.888A>G (p.V296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74716498T>C" "" "benign" "" "0000340427" "0" "10" "16" "74750405" "74750405" "subst" "0.772592" "02327" "FA2H_000014" "g.74750405G>A" "" "" "" "FA2H(NM_024306.4):c.879C>T (p.P293=), FA2H(NM_024306.5):c.879C>T (p.P293=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74716507G>A" "" "benign" "" "0000340428" "0" "10" "16" "74808425" "74808425" "subst" "0.276561" "02327" "FA2H_000013" "g.74808425G>A" "" "" "" "FA2H(NM_024306.4):c.229C>T (p.L77=), FA2H(NM_024306.5):c.229C>T (p.L77=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74774527G>A" "" "benign" "" "0000340429" "0" "10" "16" "74808737" "74808737" "subst" "0" "02327" "FA2H_000023" "g.74808737C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74774839C>G" "" "benign" "" "0000346087" "0" "50" "16" "74808521" "74808521" "subst" "0" "02327" "FA2H_000018" "g.74808521C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74774623C>T" "" "VUS" "" "0000346512" "0" "50" "16" "74808447" "74808447" "subst" "0" "02327" "FA2H_000015" "g.74808447G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74774549G>C" "" "VUS" "" "0000349723" "0" "90" "16" "74760182" "74760182" "subst" "4.06858E-6" "02327" "FA2H_000001" "g.74760182C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74726284C>T" "" "pathogenic" "" "0000559101" "0" "10" "16" "74750405" "74750405" "subst" "0.772592" "01943" "FA2H_000014" "g.74750405G>A" "" "" "" "FA2H(NM_024306.4):c.879C>T (p.P293=), FA2H(NM_024306.5):c.879C>T (p.P293=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74716507G>A" "" "benign" "" "0000559102" "0" "10" "16" "74750405" "74750405" "subst" "0.772592" "02325" "FA2H_000014" "g.74750405G>A" "" "" "" "FA2H(NM_024306.4):c.879C>T (p.P293=), FA2H(NM_024306.5):c.879C>T (p.P293=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74716507G>A" "" "benign" "" "0000559103" "0" "10" "16" "74750405" "74750405" "subst" "0.772592" "02329" "FA2H_000014" "g.74750405G>A" "" "" "" "FA2H(NM_024306.4):c.879C>T (p.P293=), FA2H(NM_024306.5):c.879C>T (p.P293=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74716507G>A" "" "benign" "" "0000559104" "0" "10" "16" "74760199" "74760199" "subst" "0.00221963" "01943" "FA2H_000011" "g.74760199C>T" "" "" "" "FA2H(NM_024306.4):c.537G>A (p.L179=), FA2H(NM_024306.5):c.537G>A (p.L179=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74726301C>T" "" "benign" "" "0000559105" "0" "30" "16" "74773946" "74773946" "subst" "0.00137654" "01943" "FA2H_000019" "g.74773946C>T" "" "" "" "FA2H(NM_024306.4):c.338G>A (p.R113Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74740048C>T" "" "likely benign" "" "0000559106" "0" "30" "16" "74808422" "74808422" "subst" "0.000313009" "01943" "FA2H_000020" "g.74808422C>T" "" "" "" "FA2H(NM_024306.4):c.232G>A (p.E78K), FA2H(NM_024306.5):c.232G>A (p.(Glu78Lys), p.E78K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74774524C>T" "" "likely benign" "" "0000559107" "0" "50" "16" "74808445" "74808445" "subst" "0" "02327" "FA2H_000021" "g.74808445G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74774547G>C" "" "VUS" "" "0000559108" "0" "50" "16" "74808452" "74808452" "subst" "0" "01943" "FA2H_000022" "g.74808452T>C" "" "" "" "FA2H(NM_024306.4):c.202A>G (p.R68G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74774554T>C" "" "VUS" "" "0000559109" "0" "50" "16" "74808452" "74808452" "subst" "0" "02327" "FA2H_000022" "g.74808452T>C" "" "" "" "FA2H(NM_024306.4):c.202A>G (p.R68G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74774554T>C" "" "VUS" "" "0000616129" "0" "50" "16" "74808422" "74808422" "subst" "0.000313009" "02327" "FA2H_000020" "g.74808422C>T" "" "" "" "FA2H(NM_024306.4):c.232G>A (p.E78K), FA2H(NM_024306.5):c.232G>A (p.(Glu78Lys), p.E78K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74774524C>T" "" "VUS" "" "0000623529" "0" "50" "16" "74750359" "74750359" "subst" "0.000219475" "01943" "FA2H_000024" "g.74750359C>T" "" "" "" "FA2H(NM_024306.4):c.925G>A (p.V309I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74716461C>T" "" "VUS" "" "0000623530" "0" "50" "16" "74773947" "74773947" "subst" "0.000686239" "01943" "FA2H_000025" "g.74773947G>A" "" "" "" "FA2H(NM_024306.4):c.337C>T (p.R113W), FA2H(NM_024306.5):c.337C>T (p.R113W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74740049G>A" "" "VUS" "" "0000649399" "1" "10" "16" "74750237" "74750237" "subst" "0.0412073" "03575" "FA2H_000004" "g.74750237A>G" "99/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "99 heterozygous, no homozygous; {DB:CLININrs6564160}" "Germline" "" "rs6564160" "0" "" "" "g.74716339A>G" "" "benign" "" "0000649400" "1" "30" "16" "74750351" "74750351" "subst" "0.0371907" "03575" "FA2H_000005" "g.74750351A>G" "100/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "100 heterozygous, no homozygous; {DB:CLININrs11554620}" "Germline" "" "rs11554620" "0" "" "" "g.74716453A>G" "" "likely benign" "" "0000649401" "1" "50" "16" "74808537" "74808537" "subst" "0" "03575" "FA2H_000026" "g.74808537G>T" "2/2788 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "no interpretation available; 2 heterozygous, no homozygous; {DB:CLININrs794729215}" "Germline" "" "rs794729215" "0" "" "" "g.74774639G>T" "" "VUS" "" "0000657930" "0" "30" "16" "74808462" "74808462" "subst" "0" "01943" "FA2H_000027" "g.74808462C>T" "" "" "" "FA2H(NM_024306.4):c.192G>A (p.G64=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74774564C>T" "" "likely benign" "" "0000683677" "3" "90" "16" "74808653" "74808653" "subst" "0" "00006" "FA2H_000029" "g.74808653T>G" "" "{PMID:Mahler 2019:31056085}" "" "T>G (Met1Leu)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000692133" "0" "50" "16" "74750287" "74750287" "subst" "4.06359E-6" "01943" "FA2H_000030" "g.74750287T>G" "" "" "" "FA2H(NM_024306.4):c.997A>C (p.K333Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692134" "0" "30" "16" "74774021" "74774021" "subst" "0.000471035" "01943" "FA2H_000031" "g.74774021G>T" "" "" "" "FA2H(NM_024306.4):c.271-8C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725963" "0" "50" "16" "74748137" "74748137" "subst" "0" "01943" "FA2H_000032" "g.74748137T>C" "" "" "" "FA2H(NM_024306.4):c.1070A>G (p.Y357C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000787274" "3" "50" "16" "74753008" "74753008" "subst" "0" "00006" "FA2H_000033" "g.74753008C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.74719110C>T" "" "VUS" "" "0000807587" "0" "50" "16" "74750359" "74750359" "subst" "0.000219475" "02327" "FA2H_000024" "g.74750359C>T" "" "" "" "FA2H(NM_024306.4):c.925G>A (p.V309I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807588" "0" "50" "16" "74760146" "74760146" "subst" "1.22054E-5" "01943" "FA2H_000034" "g.74760146C>T" "" "" "" "FA2H(NM_024306.4):c.590G>A (p.R197Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807589" "0" "50" "16" "74761180" "74761180" "subst" "0" "02329" "FA2H_000028" "g.74761180G>C" "" "" "" "FA2H(NM_024306.5):c.468C>G (p.F156L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807590" "0" "50" "16" "74808422" "74808422" "subst" "0.000313009" "02329" "FA2H_000020" "g.74808422C>T" "" "" "" "FA2H(NM_024306.4):c.232G>A (p.E78K), FA2H(NM_024306.5):c.232G>A (p.(Glu78Lys), p.E78K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807591" "0" "30" "16" "74808633" "74808633" "subst" "0" "01943" "FA2H_000035" "g.74808633G>T" "" "" "" "FA2H(NM_024306.4):c.21C>A (p.P7=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000841364" "3" "90" "16" "74760213" "74760213" "subst" "0" "00435" "FA2H_000036" "g.74760213T>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "" "0000854635" "0" "30" "16" "74753051" "74753051" "subst" "8.16713E-6" "01943" "FA2H_000037" "g.74753051C>T" "" "" "" "FA2H(NM_024306.4):c.621G>A (p.T207=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854636" "0" "50" "16" "74761282" "74761282" "subst" "4.06398E-6" "01943" "FA2H_000038" "g.74761282G>C" "" "" "" "FA2H(NM_024306.4):c.366C>G (p.D122E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931625" "3" "50" "16" "74808579" "74808579" "subst" "0" "01164" "FA2H_000039" "g.74808579G>C" "" "" "" "" "ACMG: PM1, PM2_SUP, PP3" "Germline" "-" "" "0" "" "" "g.74774681G>C" "" "VUS (!)" "ACMG" "0000946857" "3" "90" "16" "74808481" "74808498" "del" "0" "00006" "FA2H_000040" "g.74808481_74808498del" "" "{PMID:Saadi 2023:37510308}" "" "" "ACMG PMG PS3, PM1, PM4, PM2, PP1, PP4" "Germline" "yes" "rs759947457" "0" "" "" "g.74774583_74774600del" "" "pathogenic (recessive)" "" "0000946858" "3" "90" "16" "74808481" "74808498" "del" "0" "00006" "FA2H_000040" "g.74808481_74808498del" "" "{PMID:Saadi 2023:37510308}" "" "" "ACMG PMG PS3, PM1, PM4, PM2, PP1, PP4" "Germline" "yes" "rs759947457" "0" "" "" "g.74774583_74774600del" "" "pathogenic (recessive)" "" "0000946859" "3" "90" "16" "74808481" "74808498" "del" "0" "00006" "FA2H_000040" "g.74808481_74808498del" "" "{PMID:Saadi 2023:37510308}" "" "" "ACMG PMG PS3, PM1, PM4, PM2, PP1, PP4" "Germline" "yes" "rs759947457" "0" "" "" "g.74774583_74774600del" "" "pathogenic (recessive)" "" "0000968510" "0" "30" "16" "74760166" "74760166" "subst" "0.00102086" "02326" "FA2H_000010" "g.74760166G>T" "" "" "" "FA2H(NM_024306.4):c.570C>A (p.T190=), FA2H(NM_024306.5):c.570C>A (p.T190=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968511" "0" "30" "16" "74773947" "74773947" "subst" "0.000686239" "02326" "FA2H_000025" "g.74773947G>A" "" "" "" "FA2H(NM_024306.4):c.337C>T (p.R113W), FA2H(NM_024306.5):c.337C>T (p.R113W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982075" "0" "10" "16" "74750237" "74750237" "subst" "0.0412073" "01804" "FA2H_000004" "g.74750237A>G" "" "" "" "FA2H(NM_024306.5):c.1039+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000982076" "0" "10" "16" "74750351" "74750351" "subst" "0.0371907" "01804" "FA2H_000005" "g.74750351A>G" "" "" "" "FA2H(NM_024306.5):c.933T>C (p.(Tyr311=), p.Y311=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000982077" "0" "30" "16" "74773995" "74773995" "subst" "0.00940025" "01804" "FA2H_000012" "g.74773995G>C" "" "" "" "FA2H(NM_024306.5):c.289C>G (p.(Pro97Ala), p.P97A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002584" "0" "50" "16" "74752987" "74752989" "del" "0" "02325" "FA2H_000041" "g.74752987_74752989del" "" "" "" "FA2H(NM_024306.5):c.685_687delATC (p.I229del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041348" "0" "50" "16" "74748088" "74748088" "subst" "3.10655E-5" "01804" "FA2H_000042" "g.74748088T>A" "" "" "" "FA2H(NM_024306.5):c.1119A>T (p.(*373Cysext*48), p.*373Cext*48)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041349" "0" "50" "16" "74748088" "74748088" "subst" "3.10655E-5" "02325" "FA2H_000042" "g.74748088T>A" "" "" "" "FA2H(NM_024306.5):c.1119A>T (p.(*373Cysext*48), p.*373Cext*48)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055669" "0" "50" "16" "74808422" "74808422" "subst" "0.000313009" "01804" "FA2H_000020" "g.74808422C>T" "" "" "" "FA2H(NM_024306.4):c.232G>A (p.E78K), FA2H(NM_024306.5):c.232G>A (p.(Glu78Lys), p.E78K)" "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 FA2H ## Count = 68 "{{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}}" "0000084841" "00007352" "90" "554" "0" "554" "0" "c.554G>A" "r.(?)" "p.(Trp185*)" "4" "0000084842" "00007352" "90" "21" "0" "21" "0" "c.21del" "r.(?)" "p.(Ala8Profs*91)" "1" "0000250127" "00007352" "10" "933" "0" "933" "0" "c.933T>C" "r.(?)" "p.(Tyr311=)" "" "0000250230" "00007352" "10" "1039" "8" "1039" "8" "c.1039+8T>C" "r.(=)" "p.(=)" "" "0000250480" "00007352" "10" "1039" "16" "1039" "16" "c.1039+16T>G" "r.(=)" "p.(=)" "" "0000267962" "00007352" "30" "537" "0" "537" "0" "c.537G>A" "r.(?)" "p.(Leu179=)" "" "0000268947" "00007352" "10" "229" "0" "229" "0" "c.229C>T" "r.(?)" "p.(Leu77=)" "" "0000268948" "00007352" "30" "289" "0" "289" "0" "c.289C>G" "r.(?)" "p.(Pro97Ala)" "" "0000268949" "00007352" "10" "888" "0" "888" "0" "c.888A>G" "r.(?)" "p.(Val296=)" "" "0000271377" "00007352" "30" "289" "0" "289" "0" "c.289C>G" "r.(?)" "p.(Pro97Ala)" "" "0000276522" "00007352" "10" "229" "0" "229" "0" "c.229C>T" "r.(?)" "p.(Leu77=)" "" "0000276523" "00007352" "30" "570" "0" "570" "0" "c.570C>A" "r.(?)" "p.(Thr190=)" "" "0000276524" "00007352" "30" "733" "0" "733" "0" "c.733G>A" "r.(?)" "p.(Asp245Asn)" "" "0000276525" "00007352" "30" "798" "0" "798" "0" "c.798C>T" "r.(?)" "p.(Asp266=)" "" "0000276526" "00007352" "30" "847" "0" "847" "0" "c.847G>A" "r.(?)" "p.(Val283Ile)" "" "0000276527" "00007352" "10" "888" "0" "888" "0" "c.888A>G" "r.(?)" "p.(Val296=)" "" "0000338695" "00007352" "10" "1039" "16" "1039" "16" "c.1039+16T>G" "r.(=)" "p.(=)" "" "0000338696" "00007352" "10" "1039" "8" "1039" "8" "c.1039+8T>C" "r.(=)" "p.(=)" "" "0000340425" "00007352" "10" "933" "0" "933" "0" "c.933T>C" "r.(?)" "p.(Tyr311=)" "" "0000340426" "00007352" "10" "888" "0" "888" "0" "c.888A>G" "r.(?)" "p.(Val296=)" "" "0000340427" "00007352" "10" "879" "0" "879" "0" "c.879C>T" "r.(?)" "p.(Pro293=)" "" "0000340428" "00007352" "10" "229" "0" "229" "0" "c.229C>T" "r.(?)" "p.(Leu77=)" "" "0000340429" "00007352" "10" "-84" "0" "-84" "0" "c.-84G>C" "r.(?)" "p.(=)" "" "0000346087" "00007352" "50" "133" "0" "133" "0" "c.133G>A" "r.(?)" "p.(Gly45Arg)" "" "0000346512" "00007352" "50" "207" "0" "207" "0" "c.207C>G" "r.(?)" "p.(His69Gln)" "" "0000349723" "00007352" "90" "554" "0" "554" "0" "c.554G>A" "r.(?)" "p.(Trp185Ter)" "" "0000559101" "00007352" "10" "879" "0" "879" "0" "c.879C>T" "r.(?)" "p.(Pro293=)" "" "0000559102" "00007352" "10" "879" "0" "879" "0" "c.879C>T" "r.(?)" "p.(Pro293=)" "" "0000559103" "00007352" "10" "879" "0" "879" "0" "c.879C>T" "r.(?)" "p.(Pro293=)" "" "0000559104" "00007352" "10" "537" "0" "537" "0" "c.537G>A" "r.(?)" "p.(Leu179=)" "" "0000559105" "00007352" "30" "338" "0" "338" "0" "c.338G>A" "r.(?)" "p.(Arg113Gln)" "" "0000559106" "00007352" "30" "232" "0" "232" "0" "c.232G>A" "r.(?)" "p.(Glu78Lys)" "" "0000559107" "00007352" "50" "209" "0" "209" "0" "c.209C>G" "r.(?)" "p.(Ser70Trp)" "" "0000559108" "00007352" "50" "202" "0" "202" "0" "c.202A>G" "r.(?)" "p.(Arg68Gly)" "" "0000559109" "00007352" "50" "202" "0" "202" "0" "c.202A>G" "r.(?)" "p.(Arg68Gly)" "" "0000616129" "00007352" "50" "232" "0" "232" "0" "c.232G>A" "r.(?)" "p.(Glu78Lys)" "" "0000623529" "00007352" "50" "925" "0" "925" "0" "c.925G>A" "r.(?)" "p.(Val309Ile)" "" "0000623530" "00007352" "50" "337" "0" "337" "0" "c.337C>T" "r.(?)" "p.(Arg113Trp)" "" "0000649399" "00007352" "10" "1039" "8" "1039" "8" "c.1039+8T>C" "r.(=)" "p.(=)" "" "0000649400" "00007352" "30" "933" "0" "933" "0" "c.933T>C" "r.(=)" "p.(=)" "" "0000649401" "00007352" "50" "117" "0" "117" "0" "c.117C>A" "r.(?)" "p.(Phe39Leu)" "" "0000657930" "00007352" "30" "192" "0" "192" "0" "c.192G>A" "r.(?)" "p.(Gly64=)" "" "0000683677" "00007352" "90" "1" "0" "1" "0" "c.1A>C" "r.?" "p.0?" "" "0000692133" "00007352" "50" "997" "0" "997" "0" "c.997A>C" "r.(?)" "p.(Lys333Gln)" "" "0000692134" "00007352" "30" "271" "-8" "271" "-8" "c.271-8C>A" "r.(=)" "p.(=)" "" "0000725963" "00007352" "50" "1070" "0" "1070" "0" "c.1070A>G" "r.(?)" "p.(Tyr357Cys)" "" "0000787274" "00007352" "50" "664" "0" "664" "0" "c.664G>A" "r.(?)" "p.(Gly222Arg)" "5" "0000807587" "00007352" "50" "925" "0" "925" "0" "c.925G>A" "r.(?)" "p.(Val309Ile)" "" "0000807588" "00007352" "50" "590" "0" "590" "0" "c.590G>A" "r.(?)" "p.(Arg197Gln)" "" "0000807589" "00007352" "50" "468" "0" "468" "0" "c.468C>G" "r.(?)" "p.(Phe156Leu)" "" "0000807590" "00007352" "50" "232" "0" "232" "0" "c.232G>A" "r.(?)" "p.(Glu78Lys)" "" "0000807591" "00007352" "30" "21" "0" "21" "0" "c.21C>A" "r.(?)" "p.(Pro7=)" "" "0000841364" "00007352" "90" "523" "0" "523" "0" "c.523A>T" "r.(?)" "p.(Ile175Phe)" "4" "0000854635" "00007352" "30" "621" "0" "621" "0" "c.621G>A" "r.(?)" "p.(Thr207=)" "" "0000854636" "00007352" "50" "366" "0" "366" "0" "c.366C>G" "r.(?)" "p.(Asp122Glu)" "" "0000931625" "00007352" "50" "75" "0" "75" "0" "c.75C>G" "r.(?)" "p.(Cys25Trp)" "" "0000946857" "00007352" "90" "159" "0" "176" "0" "c.159_176del" "r.(?)" "p.(Arg53_Ile58del)" "" "0000946858" "00007352" "90" "159" "0" "176" "0" "c.159_176del" "r.(?)" "p.(Arg53_Ile58del)" "" "0000946859" "00007352" "90" "159" "0" "176" "0" "c.159_176del" "r.(?)" "p.(Arg53_Ile58del)" "" "0000968510" "00007352" "30" "570" "0" "570" "0" "c.570C>A" "r.(?)" "p.(Thr190=)" "" "0000968511" "00007352" "30" "337" "0" "337" "0" "c.337C>T" "r.(?)" "p.(Arg113Trp)" "" "0000982075" "00007352" "10" "1039" "8" "1039" "8" "c.1039+8T>C" "r.(=)" "p.(=)" "" "0000982076" "00007352" "10" "933" "0" "933" "0" "c.933T>C" "r.(?)" "p.(Tyr311=)" "" "0000982077" "00007352" "30" "289" "0" "289" "0" "c.289C>G" "r.(?)" "p.(Pro97Ala)" "" "0001002584" "00007352" "50" "685" "0" "687" "0" "c.685_687del" "r.(?)" "p.(Ile229del)" "" "0001041348" "00007352" "50" "1119" "0" "1119" "0" "c.1119A>T" "r.(?)" "p.(*373Cysext*48)" "" "0001041349" "00007352" "50" "1119" "0" "1119" "0" "c.1119A>T" "r.(?)" "p.(*373Cysext*48)" "" "0001055669" "00007352" "50" "232" "0" "232" "0" "c.232G>A" "r.(?)" "p.(Glu78Lys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000054825" "0000084841" "0000054825" "0000084842" "0000292710" "0000649399" "0000292711" "0000649400" "0000292712" "0000649401" "0000309177" "0000683677" "0000375923" "0000787274" "0000405288" "0000841364" "0000436939" "0000931625" "0000444921" "0000946857" "0000444922" "0000946858" "0000444923" "0000946859"