### LOVD-version 3000-28d ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HEPH) # 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}}" "HEPH" "hephaestin" "X" "q11-q12" "unknown" "NG_016265.1" "UD_132084559712" "" "https://www.LOVD.nl/HEPH" "" "1" "4866" "9843" "300167" "1" "1" "1" "1" "This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/HEPH_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2017-05-15 16:43:33" "00000" "2022-11-01 13:41:49" ## 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}}" "00000354" "HEPH" "transcript variant 1" "001" "NM_138737.3" "" "NP_620074.3" "" "" "" "-137" "4356" "3639" "65382433" "65487231" "00000" "2012-09-13 12:09:39" "" "" ## 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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "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 = 0 ## 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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00104566" "" "" "" "1" "" "01836" "{PMID:Poirier 2017:28585349}, {DOI:Poirier 2017:10.1002/humu.23270}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "France" "" "0" "" "" "" "28585349-FamPat1" "00173168" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173169" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173170" "" "" "" "8" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173171" "" "" "" "44" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173172" "" "" "" "43" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173173" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173519" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173688" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00104566" "00139" "00173168" "00187" "00173169" "00187" "00173170" "00187" "00173171" "00187" "00173172" "00187" "00173173" "00187" "00173519" "00187" "00173688" "00187" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00187, 01157 ## Count = 11 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "3w" "" "" "" "" "" "" "" "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" "" "" "" "" "" "" "" "0000082483" "00139" "00104566" "01836" "Isolated (sporadic)" "" "born at term after, uneventful pregnancy; birth weight/height/head circumference normal; mild developmental delay, hypotonia, lingual protrusion; 11m-crawling, 24m-walking; 6y-intellectual disability, severe attention and learning difficulties, autistic traits preferring to be alone; 7y-started to speak few words; 10y facial dysmorphy with mandibular prognathism, open mouth fixed O position, protruded tongue, bushy eyebrows, flat philtrum; MRI brain and ECG normal; metabolic investigations normal except rISED serum creatine phosphokinase (341IU)" "" "" "" "" "" "" "" "" "" "intellectual disability" "0000138032" "00187" "00173168" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000138033" "00187" "00173169" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000138034" "00187" "00173170" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000138035" "00187" "00173171" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000138036" "00187" "00173172" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000138037" "00187" "00173173" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000138383" "00187" "00173519" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000138552" "00187" "00173688" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" ## 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}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000105038" "00104566" "1" "01836" "01836" "2017-05-15 12:24:57" "00006" "2019-03-01 10:54:57" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000174051" "00173168" "1" "00124" "00006" "2009-10-28 15:09:48" "00006" "2010-10-24 20:36:56" "SEQ" "DNA" "" "" "0000174052" "00173169" "1" "00124" "00006" "2009-10-28 15:09:48" "00006" "2010-10-24 20:36:56" "SEQ" "DNA" "" "" "0000174053" "00173170" "1" "00124" "00006" "2009-10-28 15:09:48" "00006" "2010-10-24 20:36:56" "SEQ" "DNA" "" "" "0000174054" "00173171" "1" "00124" "00006" "2009-10-28 15:09:48" "00006" "2010-10-24 20:36:56" "SEQ" "DNA" "" "" "0000174055" "00173172" "1" "00124" "00006" "2009-10-28 15:09:48" "00006" "2010-10-24 20:36:56" "SEQ" "DNA" "" "" "0000174056" "00173173" "1" "00124" "00006" "2009-10-28 15:09:48" "00006" "2010-10-24 20:36:56" "SEQ" "DNA" "" "" "0000174402" "00173519" "1" "00124" "00006" "2009-10-28 15:09:48" "00006" "2010-10-24 20:36:56" "SEQ" "DNA" "" "" "0000174571" "00173688" "1" "00124" "00006" "2009-10-28 15:09:48" "00006" "2010-10-24 20:36:56" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{geneid}}" "0000105038" "BMP15" "0000105038" "CSNK2B" "0000105038" "GPR144" "0000105038" "HEPH" "0000105038" "PLXNA3" "0000174051" "HEPH" "0000174052" "MAGEA11" "0000174053" "MAP7D3" "0000174054" "MAP7D3" "0000174055" "MAP7D3" "0000174056" "MAP7D3" "0000174402" "CT45A5" "0000174571" "GPR50" ## 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 = 52 "{{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}}" "0000001983" "20" "50" "X" "65478925" "65478925" "dup" "0" "00037" "HEPH_000015" "g.65478925dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.66259083dup" "" "VUS" "" "0000003015" "20" "50" "X" "65475234" "65475234" "del" "0" "00037" "HEPH_000023" "g.65475234del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.66255392del" "" "VUS" "" "0000003016" "20" "50" "X" "65478925" "65478925" "dup" "0" "00037" "HEPH_000025" "g.65478925dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.66259083dup" "" "VUS" "" "0000007024" "20" "50" "X" "65390736" "65390736" "subst" "0" "00037" "HEPH_000018" "g.65390736G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.66170894G>A" "" "VUS" "" "0000007025" "20" "50" "X" "65393658" "65393658" "subst" "1" "00037" "HEPH_000011" "g.65393658A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.66173816=" "" "VUS" "" "0000007026" "20" "50" "X" "65420609" "65420609" "subst" "0.961465" "00037" "HEPH_000012" "g.65420609A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.66200767A>G" "" "VUS" "" "0000007027" "20" "50" "X" "65474774" "65474774" "subst" "0" "00037" "HEPH_000013" "g.65474774C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.66254932C>T" "" "VUS" "" "0000007028" "20" "50" "X" "65480342" "65480342" "subst" "0" "00037" "HEPH_000016" "g.65480342A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.66260500A>G" "" "VUS" "" "0000007029" "20" "50" "X" "65486172" "65486172" "subst" "0" "00037" "HEPH_000017" "g.65486172C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.66266330C>T" "" "VUS" "" "0000009109" "20" "50" "X" "65390736" "65390736" "subst" "0" "00037" "HEPH_000018" "g.65390736G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.66170894G>A" "" "VUS" "" "0000009110" "20" "50" "X" "65393658" "65393658" "subst" "1" "00037" "HEPH_000011" "g.65393658A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.66173816=" "" "VUS" "" "0000009111" "20" "50" "X" "65420609" "65420609" "subst" "0.961465" "00037" "HEPH_000012" "g.65420609A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.66200767A>G" "" "VUS" "" "0000009112" "20" "50" "X" "65474774" "65474774" "subst" "0" "00037" "HEPH_000013" "g.65474774C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.66254932C>T" "" "VUS" "" "0000009113" "20" "50" "X" "65478925" "65478925" "dup" "0" "00037" "HEPH_000015" "g.65478925dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.66259083dup" "" "VUS" "" "0000009114" "20" "50" "X" "65480342" "65480342" "subst" "0" "00037" "HEPH_000016" "g.65480342A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.66260500A>G" "" "VUS" "" "0000009115" "20" "50" "X" "65486172" "65486172" "subst" "0" "00037" "HEPH_000017" "g.65486172C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.66266330C>T" "" "VUS" "" "0000011009" "20" "50" "X" "65475234" "65475234" "del" "0" "00037" "HEPH_000023" "g.65475234del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.66255392del" "" "VUS" "" "0000011010" "20" "50" "X" "65478925" "65478925" "dup" "0" "00037" "HEPH_000025" "g.65478925dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.66259083dup" "" "VUS" "" "0000170289" "21" "50" "X" "65423236" "65423236" "subst" "0.000719404" "01836" "HEPH_000026" "g.65423236G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.66203394G>A" "" "VUS" "" "0000289007" "0" "10" "X" "65417719" "65417719" "subst" "0.00710046" "01943" "HEPH_000030" "g.65417719G>A" "" "" "" "HEPH(NM_001130860.2):c.1705G>A (p.(Gly569Ser)), HEPH(NM_138737.4):c.1858G>A (p.G620S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66197877G>A" "" "benign" "" "0000289008" "0" "30" "X" "65417725" "65417725" "subst" "0.000533376" "01943" "HEPH_000031" "g.65417725G>C" "" "" "" "HEPH(NM_138737.4):c.1864G>C (p.D622H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66197883G>C" "" "likely benign" "" "0000289009" "0" "50" "X" "65423211" "65423211" "subst" "0" "01943" "HEPH_000033" "g.65423211T>C" "" "" "" "HEPH(NM_138737.4):c.2245T>C (p.F749L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66203369T>C" "" "VUS" "" "0000334443" "0" "50" "X" "65390555" "65390555" "subst" "0.000287403" "01804" "HEPH_000027" "g.65390555C>T" "" "" "" "HEPH(NM_001130860.2):c.152C>T (p.(Thr51Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66170713C>T" "" "VUS" "" "0000334444" "0" "30" "X" "65392273" "65392273" "subst" "0" "01804" "HEPH_000028" "g.65392273A>G" "" "" "" "HEPH(NM_001130860.2):c.253A>G (p.(Lys85Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66172431A>G" "" "likely benign" "" "0000334448" "0" "50" "X" "65423217" "65423217" "subst" "0.00100283" "01804" "HEPH_000034" "g.65423217A>C" "" "" "" "HEPH(NM_001130860.2):c.2098A>C (p.(Ile700Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66203375A>C" "" "VUS" "" "0000334450" "0" "30" "X" "65486284" "65486284" "subst" "0.0035838" "01804" "HEPH_000036" "g.65486284G>T" "" "" "" "HEPH(NM_001130860.2):c.3254-1G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66266442G>T" "" "likely benign" "" "0000401104" "1" "50" "X" "65409623" "65409623" "subst" "0" "00124" "HEPH_000039" "g.65409623C>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "G356G" "found once, nonrecurrent change; variant and/or predicted effect could not be not confirmed by curators\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000401105" "1" "50" "X" "65413480" "65413480" "subst" "0" "00124" "HEPH_000040" "g.65413480C>T" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "P511S" "found once, nonrecurrent change; variant and/or predicted effect could not be not confirmed by curators\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000401106" "1" "50" "X" "65417644" "65417644" "subst" "0" "00124" "HEPH_000041" "g.65417644G>A" "8/208 cases" "{PMID:Tarpey 2009:19377476}" "" "A595T" "recurrent, found 8 times; variant and/or predicted effect could not be not confirmed by curators\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000401107" "1" "50" "X" "65423261" "65423261" "subst" "0" "00124" "HEPH_000042" "g.65423261T>C" "44/208 cases" "{PMID:Tarpey 2009:19377476}" "" "Y765Y" "recurrent, found 44 times; variant and/or predicted effect could not be not confirmed by curators\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000401108" "1" "50" "X" "65423345" "65423345" "subst" "0" "00124" "HEPH_000043" "g.65423345A>G" "43/208 cases" "{PMID:Tarpey 2009:19377476}" "" "T793T" "recurrent, found 43 times; variant and/or predicted effect could not be not confirmed by curators" "Germline" "" "" "0" "" "" "g.66203503A>G" "" "VUS" "" "0000401109" "1" "50" "X" "65476156" "65476156" "subst" "0" "00124" "HEPH_000044" "g.65476156C>T" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "G1014G" "found once, nonrecurrent change; variant and/or predicted effect could not be not confirmed by curators\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000401110" "1" "50" "X" "65479990" "65479990" "subst" "0" "00124" "HEPH_000045" "g.65479990G>T" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "V1083L" "found once, nonrecurrent change; variant and/or predicted effect could not be not confirmed by curators\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000401111" "1" "50" "X" "65382665" "65382665" "subst" "0" "00124" "HEPH_000038" "g.65382665C>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "I32I" "found once, nonrecurrent change; variant and/or predicted effect could not be not confirmed by curators" "Germline" "" "" "0" "" "" "g.66162823C>A" "" "VUS" "" "0000576972" "0" "30" "X" "65409750" "65409750" "subst" "0.000336747" "01804" "HEPH_000047" "g.65409750A>G" "" "" "" "HEPH(NM_001130860.2):c.1042A>G (p.(Ile348Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66189908A>G" "" "likely benign" "" "0000576973" "0" "30" "X" "65411980" "65411980" "subst" "0" "01943" "HEPH_000048" "g.65411980C>G" "" "" "" "HEPH(NM_138737.4):c.1234C>G (p.Q412E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66192138C>G" "" "likely benign" "" "0000576974" "0" "30" "X" "65413454" "65413454" "subst" "0.0000724651" "01943" "HEPH_000049" "g.65413454A>G" "" "" "" "HEPH(NM_138737.4):c.1505A>G (p.E502G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66193612A>G" "" "likely benign" "" "0000576975" "0" "30" "X" "65417576" "65417576" "subst" "0.000448144" "01943" "HEPH_000050" "g.65417576G>A" "" "" "" "HEPH(NM_138737.4):c.1715G>A (p.R572H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66197734G>A" "" "likely benign" "" "0000576976" "0" "30" "X" "65417719" "65417719" "subst" "0.00710046" "01804" "HEPH_000030" "g.65417719G>A" "" "" "" "HEPH(NM_001130860.2):c.1705G>A (p.(Gly569Ser)), HEPH(NM_138737.4):c.1858G>A (p.G620S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66197877G>A" "" "likely benign" "" "0000576977" "0" "50" "X" "65420522" "65420522" "subst" "0" "01943" "HEPH_000051" "g.65420522G>A" "" "" "" "HEPH(NM_138737.4):c.2167G>A (p.G723S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66200680G>A" "" "VUS" "" "0000576978" "0" "50" "X" "65423304" "65423304" "subst" "0.0000112225" "01943" "HEPH_000052" "g.65423304C>T" "" "" "" "HEPH(NM_001367242.1):c.1375C>T (p.R459C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66203462C>T" "" "VUS" "" "0000576979" "0" "30" "X" "65423389" "65423389" "subst" "0.0000281275" "01943" "HEPH_000053" "g.65423389G>A" "" "" "" "HEPH(NM_001367242.1):c.1460G>A (p.R487Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66203547G>A" "" "likely benign" "" "0000576980" "0" "30" "X" "65428056" "65428056" "subst" "0.0000396165" "01804" "HEPH_000054" "g.65428056C>G" "" "" "" "HEPH(NM_001130860.2):c.2540C>G (p.(Ser847Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66208214C>G" "" "likely benign" "" "0000576981" "0" "50" "X" "65479958" "65479958" "subst" "0.000050648" "01943" "HEPH_000055" "g.65479958G>A" "" "" "" "HEPH(NM_138737.4):c.3215G>A (p.R1072Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66260116G>A" "" "VUS" "" "0000576982" "0" "30" "X" "65483522" "65483522" "subst" "0" "01943" "HEPH_000056" "g.65483522C>T" "" "" "" "HEPH(NM_138737.4):c.3398C>T (p.T1133I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66263680C>T" "" "likely benign" "" "0000576985" "0" "30" "X" "65486296" "65486296" "subst" "0.000344123" "01943" "HEPH_000037" "g.65486296G>T" "" "" "" "HEPH(NM_138737.4):c.3421G>T (p.D1141Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66266454G>T" "" "likely benign" "" "0000619776" "0" "50" "X" "65478753" "65478753" "subst" "0.00000643757" "01943" "HEPH_000060" "g.65478753A>G" "" "" "" "HEPH(NM_001130860.3):c.2977A>G (p.M993V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66258911A>G" "" "VUS" "" "0000659413" "0" "30" "X" "65392263" "65392263" "subst" "0" "01943" "HEPH_000061" "g.65392263T>C" "" "" "" "HEPH(NM_138737.4):c.396T>C (p.Y132=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66172421T>C" "" "likely benign" "" "0000693694" "0" "50" "X" "65393610" "65393610" "subst" "0" "01943" "HEPH_000062" "g.65393610G>T" "" "" "" "HEPH(NM_138737.4):c.754G>T (p.G252C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810591" "0" "30" "X" "65423305" "65423305" "subst" "0.000011224" "01943" "HEPH_000063" "g.65423305G>A" "" "" "" "HEPH(NM_001367242.1):c.1376G>A (p.R459H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867505" "0" "30" "X" "65409558" "65409558" "subst" "0.0000224791" "01943" "HEPH_000064" "g.65409558G>A" "" "" "" "HEPH(NM_001367242.1):c.40G>A (p.E14K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896322" "0" "50" "X" "65476123" "65476123" "subst" "0" "02327" "HEPH_000065" "g.65476123C>T" "" "" "" "" "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 HEPH ## Count = 52 "{{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}}" "0000001983" "00000354" "50" "3198" "104" "3198" "104" "c.3198+104dup" "r.(=)" "p.(=)" "" "0000003015" "00000354" "50" "2832" "251" "2832" "251" "c.2832+251del" "r.(=)" "p.(=)" "" "0000003016" "00000354" "50" "3198" "104" "3198" "104" "c.3198+104dup" "r.(=)" "p.(=)" "" "0000007024" "00000354" "50" "329" "157" "329" "157" "c.329+157G>A" "r.(=)" "p.(=)" "" "0000007025" "00000354" "50" "787" "15" "787" "15" "c.787+15A>G" "r.(=)" "p.(=)" "" "0000007026" "00000354" "50" "2239" "15" "2239" "15" "c.2239+15A>G" "r.(=)" "p.(=)" "" "0000007027" "00000354" "50" "2726" "-103" "2726" "-103" "c.2726-103C>T" "r.(=)" "p.(=)" "" "0000007028" "00000354" "50" "3361" "238" "3361" "238" "c.3361+238A>G" "r.(=)" "p.(=)" "" "0000007029" "00000354" "50" "3407" "-110" "3407" "-110" "c.3407-110C>T" "r.(=)" "p.(=)" "" "0000009109" "00000354" "50" "329" "157" "329" "157" "c.329+157G>A" "r.(=)" "p.(=)" "" "0000009110" "00000354" "50" "787" "15" "787" "15" "c.787+15A>G" "r.(=)" "p.(=)" "" "0000009111" "00000354" "50" "2239" "15" "2239" "15" "c.2239+15A>G" "r.(=)" "p.(=)" "" "0000009112" "00000354" "50" "2726" "-103" "2726" "-103" "c.2726-103C>T" "r.(=)" "p.(=)" "" "0000009113" "00000354" "50" "3198" "104" "3198" "104" "c.3198+104dup" "r.(=)" "p.(=)" "" "0000009114" "00000354" "50" "3361" "238" "3361" "238" "c.3361+238A>G" "r.(=)" "p.(=)" "" "0000009115" "00000354" "50" "3407" "-110" "3407" "-110" "c.3407-110C>T" "r.(=)" "p.(=)" "" "0000011009" "00000354" "50" "2832" "251" "2832" "251" "c.2832+251del" "r.(=)" "p.(=)" "" "0000011010" "00000354" "50" "3198" "104" "3198" "104" "c.3198+104dup" "r.(=)" "p.(=)" "" "0000170289" "00000354" "50" "2270" "0" "2270" "0" "c.2270G>A" "r.(?)" "p.(Ser757Asn)" "" "0000289007" "00000354" "10" "1858" "0" "1858" "0" "c.1858G>A" "r.(?)" "p.(Gly620Ser)" "" "0000289008" "00000354" "30" "1864" "0" "1864" "0" "c.1864G>C" "r.(?)" "p.(Asp622His)" "" "0000289009" "00000354" "50" "2245" "0" "2245" "0" "c.2245T>C" "r.(?)" "p.(Phe749Leu)" "" "0000334443" "00000354" "50" "305" "0" "305" "0" "c.305C>T" "r.(?)" "p.(Thr102Met)" "" "0000334444" "00000354" "30" "406" "0" "406" "0" "c.406A>G" "r.(?)" "p.(Lys136Glu)" "" "0000334448" "00000354" "50" "2251" "0" "2251" "0" "c.2251A>C" "r.(?)" "p.(Ile751Leu)" "" "0000334450" "00000354" "30" "3409" "0" "3409" "0" "c.3409G>T" "r.(?)" "p.(Val1137Leu)" "" "0000401104" "00000354" "50" "1068" "0" "1068" "0" "c.1068C>A" "r.(?)" "p.(=)" "6" "0000401105" "00000354" "50" "1531" "0" "1531" "0" "c.1531C>T" "r.(?)" "P511S" "8" "0000401106" "00000354" "50" "1783" "0" "1783" "0" "c.1783G>A" "r.(?)" "A595T" "10" "0000401107" "00000354" "50" "2295" "0" "2295" "0" "c.2295T>C" "r.(?)" "p.(=)" "13" "0000401108" "00000354" "50" "2379" "0" "2379" "0" "c.2379A>G" "r.(?)" "T793T" "13" "0000401109" "00000354" "50" "3042" "0" "3042" "0" "c.3042C>T" "r.(?)" "p.(=)" "17" "0000401110" "00000354" "50" "3247" "0" "3247" "0" "c.3247G>T" "r.(?)" "V1083L" "19" "0000401111" "00000354" "50" "96" "0" "96" "0" "c.96C>A" "r.(?)" "p.(=)" "1" "0000576972" "00000354" "30" "1195" "0" "1195" "0" "c.1195A>G" "r.(?)" "p.(Ile399Val)" "" "0000576973" "00000354" "30" "1234" "0" "1234" "0" "c.1234C>G" "r.(?)" "p.(Gln412Glu)" "" "0000576974" "00000354" "30" "1505" "0" "1505" "0" "c.1505A>G" "r.(?)" "p.(Glu502Gly)" "" "0000576975" "00000354" "30" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Arg572His)" "" "0000576976" "00000354" "30" "1858" "0" "1858" "0" "c.1858G>A" "r.(?)" "p.(Gly620Ser)" "" "0000576977" "00000354" "50" "2167" "0" "2167" "0" "c.2167G>A" "r.(?)" "p.(Gly723Ser)" "" "0000576978" "00000354" "50" "2338" "0" "2338" "0" "c.2338C>T" "r.(?)" "p.(Arg780Cys)" "" "0000576979" "00000354" "30" "2423" "0" "2423" "0" "c.2423G>A" "r.(?)" "p.(Arg808Gln)" "" "0000576980" "00000354" "30" "2693" "0" "2693" "0" "c.2693C>G" "r.(?)" "p.(Ser898Cys)" "" "0000576981" "00000354" "50" "3215" "0" "3215" "0" "c.3215G>A" "r.(?)" "p.(Arg1072Gln)" "" "0000576982" "00000354" "30" "3398" "0" "3398" "0" "c.3398C>T" "r.(?)" "p.(Thr1133Ile)" "" "0000576985" "00000354" "30" "3421" "0" "3421" "0" "c.3421G>T" "r.(?)" "p.(Asp1141Tyr)" "" "0000619776" "00000354" "50" "3130" "0" "3130" "0" "c.3130A>G" "r.(?)" "p.(Met1044Val)" "" "0000659413" "00000354" "30" "396" "0" "396" "0" "c.396T>C" "r.(?)" "p.(Tyr132=)" "" "0000693694" "00000354" "50" "754" "0" "754" "0" "c.754G>T" "r.(?)" "p.(Gly252Cys)" "" "0000810591" "00000354" "30" "2339" "0" "2339" "0" "c.2339G>A" "r.(?)" "p.(Arg780His)" "" "0000867505" "00000354" "30" "1003" "0" "1003" "0" "c.1003G>A" "r.(?)" "p.(Glu335Lys)" "" "0000896322" "00000354" "50" "3009" "0" "3009" "0" "c.3009C>T" "r.(?)" "p.(Gly1003=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 27 "{{screeningid}}" "{{variantid}}" "0000000209" "0000001983" "0000000209" "0000003015" "0000000209" "0000003016" "0000000209" "0000007024" "0000000209" "0000007025" "0000000209" "0000007026" "0000000209" "0000007027" "0000000209" "0000007028" "0000000209" "0000007029" "0000000210" "0000009109" "0000000210" "0000009110" "0000000210" "0000009111" "0000000210" "0000009112" "0000000210" "0000009113" "0000000210" "0000009114" "0000000210" "0000009115" "0000000210" "0000011009" "0000000210" "0000011010" "0000105038" "0000170289" "0000174051" "0000401104" "0000174052" "0000401105" "0000174053" "0000401106" "0000174054" "0000401107" "0000174055" "0000401108" "0000174056" "0000401109" "0000174402" "0000401110" "0000174571" "0000401111"