### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MAX) # 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}}" "MAX" "MYC associated factor X" "14" "q23" "unknown" "NG_029830.1" "UD_136088389485" "" "http://www.LOVD.nl/MAX" "" "1" "6913" "4149" "154950" "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/MAX_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2011-07-20 00:00:00" "00006" "2017-04-21 15:29:32" "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}}" "00024166" "MAX" "transcript variant 1" "005" "NM_002382.4" "NM_002382" "NP_002373.3" "NP_002373" "P61244" "" "-205" "1835" "483" "65569262" "65541842" "01752" "2016-09-09 15:58:56" "01752" "2016-09-09 16:01:22" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "01503" "pheochromocytoma" "pheochromocytoma (susceptibility to)" "AD" "171300" "cerebral cortex" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-01-04 19:51:33" "04296" "MINAS" "neoplasia, multiple inherited alleles (MINAS)" "AD;AR;SMo" "" "" "" "" "00006" "2015-07-02 09:20:44" "00006" "2021-12-10 21:51:32" "07165" "PDMCS" "polydactyly-macrocephaly syndrome" "AD" "620712" "" "" "" "00006" "2025-05-01 19:28:16" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "MAX" "01503" "MAX" "07165" ## Individuals ## Do not remove or alter this header ## ## Count = 21 "{{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}}" "00103834" "" "" "" "2" "" "01752" "{PMID:Comino-Méndez 2011:21685915}" "3-generation family, affected brother/sister" "F" "no" "Italy" "" "0" "" "" "white" "21685915-FamCPat924" "00103835" "" "" "00103834" "1" "" "01752" "{PMID:Comino-Méndez 2011:21685915}" "" "M" "no" "" "" "0" "" "" "" "21685915-FamCPat922" "00103836" "" "" "" "1" "" "01752" "{PMID:Comino-Méndez 2011:21685915}" "" "M" "" "" "" "0" "" "" "" "21685915-FamDPat190" "00103837" "" "" "" "1" "" "01752" "{PMID:Comino-Méndez 2011:21685915}" "no familial antecedents" "F" "" "" "" "0" "" "" "" "21685915-FamFPat368" "00103838" "" "" "" "4" "" "01752" "{PMID:Comino-Méndez 2011:21685915}" "3-generation family, 4 affecteds (2F, 2M)" "M" "" "" "" "0" "" "" "" "21685915-FamAPat3121" "00103839" "" "" "00103838" "1" "" "01752" "{PMID:Comino-Méndez 2011:21685915}" "" "M" "" "" "" "0" "" "" "" "21685915-FamAPat3119" "00103840" "" "" "00103838" "1" "" "01752" "{PMID:Comino-Méndez 2011:21685915}" "" "F" "" "" "" "0" "" "" "" "21685915-FamAPat1090" "00103841" "" "" "00103838" "1" "" "01752" "{PMID:Comino-Méndez 2011:21685915}" "" "F" "" "" "" "0" "" "" "" "21685915-FamAPat3122" "00103842" "" "" "" "1" "" "01752" "{PMID:Comino-Méndez 2011:21685915}" "" "F" "" "" "" "0" "" "" "" "21685915-FamEPat1016" "00103843" "" "" "" "1" "" "01752" "{PMID:Comino-Méndez 2011:21685915}" "" "F" "" "" "" "0" "" "" "" "21685915-FamHPatF31S" "00103844" "" "" "" "1" "" "01752" "{PMID:Comino-Méndez 2011:21685915}" "" "M" "" "" "" "0" "" "" "" "21685915-FamB" "00103845" "" "" "" "1" "" "01752" "{PMID:Comino-Méndez 2011:21685915}" "no familial antecedents" "F" "" "" "" "0" "" "" "" "21685915-FamG" "00264002" "" "" "" "1" "" "00727" "" "" "F" "" "" "" "0" "" "" "" "" "00291093" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296671" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00372031" "" "" "" "1" "" "01663" "" "" "M" "-" "(Italy)" "" "" "yes" "" "Asian" "4067" "00396860" "" "" "" "1" "" "00006" "{PMID:Kim 2021:33219105}" "" "" "" "Korea" "" "0" "" "" "" "" "00445144" "" "" "" "1" "" "00006" "{PMID:Harris 2024:38141607}, {DOI:Harris 2024:10.1016/j.ajhg.2023.11.010}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat1" "00445145" "" "" "" "1" "" "00006" "{PMID:Harris 2024:38141607}, {DOI:Harris 2024:10.1016/j.ajhg.2023.11.010}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat2" "00445146" "" "" "" "1" "" "00006" "{PMID:Harris 2024:38141607}, {DOI:Harris 2024:10.1016/j.ajhg.2023.11.010}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Netherlands" "" "0" "" "" "" "Pat3" "00465239" "" "" "" "1" "" "03820" "" "" "M" "no" "(Brazil)" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 21 "{{individualid}}" "{{diseaseid}}" "00103834" "01503" "00103835" "01503" "00103836" "01503" "00103837" "01503" "00103838" "01503" "00103839" "01503" "00103840" "01503" "00103841" "01503" "00103842" "01503" "00103843" "01503" "00103844" "01503" "00103845" "01503" "00264002" "04296" "00291093" "00198" "00296671" "00198" "00372031" "01503" "00396860" "00198" "00445144" "00198" "00445145" "00198" "00445146" "00198" "00465239" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01503, 04296, 07165 ## Count = 20 "{{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/Cancer/Sub_type}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000081756" "01503" "00103834" "01752" "Unknown" "" "bilateral adrenal pheochromocytoma; malignant; Unkown familial antecedents; Tumor 2nd hit: uniparental disomy; Exclusive paternal MEG3 allele detection" "" "" "" "" "" "" "" "" "" "" "" "" "0000081757" "01503" "00103835" "01752" "Unknown" "" "Non-malignant" "" "" "" "" "" "" "" "" "" "" "" "" "0000081758" "01503" "00103836" "01752" "Unknown" "" "bilateral adrenal pheochromocytoma; non-malignant; No familial antecedents; Tumor 2nd hit: 14q loss; exclusive paternal MEG3 allele detection" "" "" "" "" "" "" "" "" "" "" "" "" "0000081759" "01503" "00103837" "01752" "Unknown" "" "Malignant" "" "" "" "" "" "" "" "" "" "" "" "" "0000081760" "01503" "00103838" "01752" "Familial" "" "bilateral adrenal pheochromocytoma; non-malignant" "29y" "" "" "" "" "" "" "" "" "" "" "" "0000081761" "01503" "00103839" "01752" "Unknown" "" "bilateral adrenal pheochromocytoma; non-malignant" "35y" "" "" "" "" "" "" "" "" "" "" "" "0000081762" "01503" "00103840" "01752" "Unknown" "" "bilateral adrenal pheochromocytoma; non-malignant" "" "" "" "" "" "" "" "" "" "" "" "" "0000081763" "01503" "00103841" "01752" "Unknown" "" "bilateral adrenal pheochromocytoma; non-malignant" "" "" "" "" "" "" "" "" "" "" "" "" "0000081764" "01503" "00103842" "01752" "Familial" "" "bilateral adrenal pheochromocytoma; non-malignant; Paternal familial antecedents; Tumor 2nd hit: 14q loss; Exclusive paternal MEG3 allele detection" "47y" "" "" "" "" "" "" "" "" "" "" "" "0000081765" "01503" "00103843" "01752" "Familial" "" "Non-malignant; Paternal familial antecedents; Tumor 2nd hit; uniparental disomy; exclusive paternal MEG3 allele detection" "" "" "" "" "" "" "" "" "" "" "" "" "0000081766" "01503" "00103844" "01752" "Unknown" "" "bilateral adrenal pheochromocytoma; malignant" "" "" "" "" "" "" "" "" "" "" "" "" "0000081767" "01503" "00103845" "01752" "Unknown" "" "Non-malignant" "" "" "" "" "" "" "" "" "" "" "" "" "0000201860" "04296" "00264002" "00727" "Unknown" "" "Phaeochromocytoma, 16y; Phaeochromocytoma, 35y." "" "" "" "" "" "" "" "" "" "" "" "" "0000224072" "00198" "00296671" "01164" "Unknown" "" "Pheochromocytoma (HP:0002666); Hypertension (HP:0000822)" "" "" "" "" "" "" "" "" "" "" "" "" "0000267369" "01503" "00372031" "01663" "-" "52y" "" "51y" "52y" "" "" "" "" "" "" "" "pheochromocytoma" "pheochromocytoma" "" "0000290018" "00198" "00396860" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "pheochromocytoma/paraganglioma" "" "0000334398" "00198" "00445144" "00006" "Isolated (sporadic)" "07y01m" "see paper; .., macrocephaly, 0y0m-OFC 1.94, 7y1m-OFC +3.4; ventriculomegaly; polydactyly; intellectual disability appropriate for level of visual impairment; autistic traits; chorio-retinal colobomas affecting optic nerves and vision; developed exudative retinopathy in both eyes; persistent patent foramen ovale (now closed); gastro-esophageal reflux, 4 phalanges on left thumb, pectus carinatum" "" "" "" "" "" "" "" "" "" "PDMCS" "macrocephaly, polydactyly" "" "0000334399" "00198" "00445145" "00006" "Isolated (sporadic)" "09y09m" "see paper; .., macrocephaly, 3y6m-OFC 2.6, 9y9m-OFC +3.02; no ventriculomegaly; polydactyly; autistic; global developmental delay, 12m-sit, 24m-walk, 5y-speaks single words, 5y11m- 3-word sentences; delayed visual maturation; no cardiac phenotype; 4y-perianal abscesses" "" "" "" "" "" "" "" "" "" "PDMCS" "macrocephaly, polydactyly" "" "0000334400" "00198" "00445146" "00006" "Isolated (sporadic)" "" "see paper; .., OFC normal; no ventriculomegaly; polydactyly; atrial septal defect; hypospadias, renal agenesis, single umbilical artery, flattened thoracic vertebrae" "" "" "" "" "" "" "" "" "" "PDMCS" "polydactyly" "" "0000350774" "00198" "00465239" "03820" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "PDMCS" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 21 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000104285" "00103834" "0" "00002" "00006" "2011-07-20 13:54:42" "" "" "SEQ-NG-I" "DNA" "" "" "0000104286" "00103835" "0" "00002" "00006" "2011-07-20 13:54:42" "" "" "PCR" "DNA" "" "" "0000104287" "00103836" "0" "00002" "00006" "2011-07-20 13:54:42" "" "" "PCR" "DNA" "" "" "0000104288" "00103837" "0" "00002" "00006" "2011-07-20 13:54:42" "" "" "PCR" "DNA" "" "" "0000104289" "00103838" "1" "01752" "00006" "2011-07-20 13:54:42" "00006" "2017-04-21 11:45:25" "SEQ-NG-I" "DNA" "" "" "0000104290" "00103839" "1" "01752" "00006" "2011-07-20 13:54:42" "00006" "2017-04-21 11:46:36" "PCR" "DNA" "" "" "0000104291" "00103840" "0" "00002" "00006" "2011-07-20 13:54:42" "" "" "PCR" "DNA" "" "" "0000104292" "00103841" "0" "00002" "00006" "2011-07-20 13:54:42" "" "" "PCR" "DNA" "" "" "0000104293" "00103842" "0" "00002" "00006" "2011-07-20 13:54:42" "" "" "PCR" "DNA" "" "" "0000104294" "00103843" "0" "00002" "00006" "2011-07-20 13:54:42" "" "" "PCR" "DNA" "" "" "0000104295" "00103844" "0" "00002" "00006" "2011-07-20 13:54:42" "" "" "SEQ-NG-I; RT-PCR" "DNA" "" "" "0000104296" "00103845" "0" "00002" "00006" "2011-07-20 13:54:42" "" "" "PCR" "DNA" "" "" "0000265140" "00264002" "1" "00727" "00727" "2019-09-05 18:29:00" "" "" "SEQ-NG-I" "DNA" "" "" "0000292261" "00291093" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297781" "00296671" "1" "01164" "01164" "2020-04-10 08:48:02" "" "" "SEQ-NG-S" "DNA" "" "" "0000373259" "00372031" "1" "01663" "01663" "2021-05-05 09:22:30" "" "" "MLPA" "DNA" "" "NGS gene panel (SDHx, TMEM127, MAX, FH, RET, VHL)" "0000398101" "00396860" "1" "00006" "00006" "2021-12-17 15:43:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000446715" "00445144" "1" "00006" "00006" "2024-01-04 20:03:29" "00006" "2024-01-04 21:19:49" "SEQ;SEQ-NG" "DNA" "" "WES" "0000446716" "00445145" "1" "00006" "00006" "2024-01-04 21:07:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000446717" "00445146" "1" "00006" "00006" "2024-01-04 21:12:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000466889" "00465239" "1" "03820" "03820" "2025-04-24 14:06:24" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 24 "{{screeningid}}" "{{geneid}}" "0000104285" "MAX" "0000104286" "MAX" "0000104287" "MAX" "0000104288" "MAX" "0000104289" "MAX" "0000104290" "MAX" "0000104291" "MAX" "0000104292" "MAX" "0000104293" "MAX" "0000104294" "MAX" "0000104295" "MAX" "0000104296" "MAX" "0000265140" "MAX" "0000373259" "FH" "0000373259" "MAX" "0000373259" "RET" "0000373259" "SDHA" "0000373259" "SDHAF2" "0000373259" "SDHB" "0000373259" "SDHC" "0000373259" "SDHD" "0000373259" "TMEM127" "0000373259" "VHL" "0000398101" "MAX" ## 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 = 46 "{{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}}" "0000168953" "11" "77" "14" "65569057" "65569057" "subst" "0" "01752" "MAX_000003" "g.65569057T>C" "" "{PMID:Comino-Méndez 2011:21685915}" "" "Met1?" "" "Germline" "" "" "0" "" "" "g.65102339T>C" "" "likely pathogenic" "" "0000168954" "11" "77" "14" "65569057" "65569057" "subst" "0" "01752" "MAX_000003" "g.65569057T>C" "" "{PMID:Comino-Méndez 2011:21685915}" "" "Met1?" "" "Germline" "" "" "0" "" "" "g.65102339T>C" "" "likely pathogenic" "" "0000168955" "11" "77" "14" "65560500" "65560500" "subst" "0" "01752" "MAX_000004" "g.65560500G>A" "" "{PMID:Comino-Méndez 2011:21685915}" "" "" "" "Germline" "" "" "0" "" "" "g.65093782G>A" "" "likely pathogenic" "" "0000168956" "11" "77" "14" "65560530" "65560530" "subst" "0" "01752" "MAX_000006" "g.65560530C>T" "" "{PMID:Comino-Méndez 2011:21685915}" "" "" "" "Germline" "" "" "0" "" "" "g.65093812C>T" "" "likely pathogenic" "" "0000168957" "11" "77" "14" "65544703" "65544703" "subst" "8.1211E-6" "01752" "MAX_000001" "g.65544703G>A" "" "{PMID:Comino-Méndez 2011:21685915}" "" "" "2nd hit tumor UPD, exclusive paternal MEG3 allele detection" "Germline" "" "" "0" "" "" "g.65077985G>A" "" "likely pathogenic" "" "0000168958" "11" "77" "14" "65544703" "65544703" "subst" "8.1211E-6" "01752" "MAX_000001" "g.65544703G>A" "" "{PMID:Comino-Méndez 2011:21685915}" "" "" "" "Germline" "" "" "0" "" "" "g.65077985G>A" "" "likely pathogenic" "" "0000168959" "11" "77" "14" "65544703" "65544703" "subst" "8.1211E-6" "01752" "MAX_000001" "g.65544703G>A" "" "{PMID:Comino-Méndez 2011:21685915}" "" "" "" "Germline" "" "" "0" "" "" "g.65077985G>A" "" "likely pathogenic" "" "0000168960" "11" "77" "14" "65544703" "65544703" "subst" "8.1211E-6" "01752" "MAX_000001" "g.65544703G>A" "" "{PMID:Comino-Méndez 2011:21685915}" "" "" "" "Germline" "" "" "0" "" "" "g.65077985G>A" "" "likely pathogenic" "" "0000168961" "11" "77" "14" "65544741" "65544741" "del" "0" "01752" "MAX_000005" "g.65544741del" "" "{PMID:Comino-Méndez 2011:21685915}" "" "185_186delA (Gln62AsnfsX23)" "corrected to c.187del, p.(Ile63Serfs*2) (pers. comm.)" "Germline" "" "" "0" "" "" "g.65078023del" "" "likely pathogenic" "" "0000168962" "11" "77" "14" "65544645" "65544645" "subst" "0" "01752" "MAX_000008" "g.65544645A>G" "" "{PMID:Comino-Méndez 2011:21685915}" "" "" "" "Germline" "" "" "0" "" "" "g.65077927A>G" "" "likely pathogenic" "" "0000168963" "11" "77" "14" "65544630" "65544630" "subst" "0" "01752" "MAX_000002" "g.65544630C>T" "" "{PMID:Comino-Méndez 2011:21685915}" "" "" "" "Germline" "" "" "0" "" "" "g.65077912C>T" "" "likely pathogenic" "" "0000168964" "11" "77" "14" "65543252" "65543252" "subst" "3.24852E-5" "01752" "MAX_000007" "g.65543252G>A" "" "{PMID:Comino-Méndez 2011:21685915}" "" "" "" "Germline" "" "" "0" "" "" "g.65076534G>A" "" "likely pathogenic" "" "0000250471" "0" "30" "14" "65568315" "65568315" "del" "0" "02329" "MAX_000011" "g.65568315del" "" "" "" "MAX(NM_002382.5):c.37-15delT, MAX(NM_145113.3):c.37-15delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65101597del" "" "likely benign" "" "0000250472" "0" "30" "14" "65568306" "65568306" "subst" "0" "02329" "MAX_000012" "g.65568306A>G" "" "" "" "MAX(NM_002382.5):c.37-16T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65101588A>G" "" "likely benign" "" "0000282398" "0" "30" "14" "65569011" "65569011" "subst" "0.00010343" "02325" "MAX_000013" "g.65569011C>G" "" "" "" "MAX(NM_002382.5):c.36+11G>C, MAX(NM_145113.3):c.36+11G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65102293C>G" "" "likely benign" "" "0000283640" "0" "30" "14" "65569011" "65569011" "subst" "0.00010343" "02329" "MAX_000013" "g.65569011C>G" "" "" "" "MAX(NM_002382.5):c.36+11G>C, MAX(NM_145113.3):c.36+11G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65102293C>G" "" "likely benign" "" "0000286134" "0" "90" "14" "65544630" "65544630" "subst" "0" "02326" "MAX_000002" "g.65544630C>T" "" "" "" "MAX(NM_145113.3):c.295+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65077912C>T" "" "pathogenic" "" "0000338581" "0" "30" "14" "65543187" "65543187" "subst" "0.000365485" "02327" "MAX_000014" "g.65543187G>A" "" "" "" "MAX(NM_001320415.1):c.*7C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65076469G>A" "" "likely benign" "" "0000552845" "0" "50" "14" "65544706" "65544706" "subst" "0" "02327" "CHURC1-FNTB_000001" "g.65544706T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65077988T>C" "" "VUS" "" "0000552846" "0" "30" "14" "65568315" "65568315" "dup" "0" "02329" "CHURC1-FNTB_000002" "g.65568315dup" "" "" "" "MAX(NM_002382.5):c.37-15dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65101597dup" "" "likely benign" "" "0000595716" "0" "50" "14" "65569057" "65569057" "subst" "0" "00727" "MAX_000003" "g.65569057T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.65102339T>C" "" "pathogenic" "" "0000648950" "1" "50" "14" "65543271" "65543271" "subst" "0.000101516" "03575" "MAX_000015" "g.65543271C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs140490467}" "Germline" "" "rs140490467" "0" "" "" "g.65076553C>T" "" "VUS" "" "0000660444" "0" "70" "14" "65544683" "65544683" "dup" "0" "01164" "MAX_000016" "g.65544683dup" "" "" "" "" "ACMG grading: PVS1,PM2; brother also affected\r\nVariant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000783224" "0" "70" "14" "65543195" "65544755" "del" "0" "01663" "MAX_000017" "g.(?_65543195)_(65544755_65560425)del" "" "" "" "" "Genomic deletion estimated after MLPA analysis (probes MAX.4, MAX.4 intr, MAX5)" "Germline" "?" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000806465" "0" "30" "14" "65544614" "65544614" "subst" "4.06144E-6" "02369" "CHURC1-FNTB_000003" "g.65544614C>T" "" "" "" "MAX(NM_145113.3):c.295+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806466" "0" "30" "14" "65550984" "65550984" "subst" "0.000970605" "02369" "CHURC1-FNTB_000004" "g.65550984C>T" "" "" "" "MAX(NM_145114.2):c.205G>A (p.Val69Ile)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806467" "0" "10" "14" "65568315" "65568315" "del" "0" "02369" "MAX_000011" "g.65568315del" "" "" "" "MAX(NM_002382.5):c.37-15delT, MAX(NM_145113.3):c.37-15delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000830309" "0" "90" "14" "65544637" "65544637" "subst" "0" "00006" "MAX_000018" "g.65544637G>A" "" "{PMID:Kim 2021:33219105}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.65077919G>A" "" "pathogenic (dominant)" "" "0000891851" "0" "30" "14" "65544615" "65544615" "subst" "0.000162455" "02329" "CHURC1-FNTB_000005" "g.65544615G>A" "" "" "" "MAX(NM_002382.5):c.295+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000955074" "0" "90" "14" "65544747" "65544747" "subst" "0" "00006" "MAX_000009" "g.65544747C>T" "" "{PMID:Harris 2024:38141607}, {DOI:Harris 2024:10.1016/j.ajhg.2023.11.010}" "" "" "" "De novo" "" "" "0" "" "" "g.65078029C>T" "" "pathogenic (dominant)" "" "0000955075" "0" "90" "14" "65544747" "65544747" "subst" "0" "00006" "MAX_000009" "g.65544747C>T" "" "{PMID:Harris 2024:38141607}, {DOI:Harris 2024:10.1016/j.ajhg.2023.11.010}" "" "" "" "De novo" "" "" "0" "" "" "g.65078029C>T" "" "pathogenic (dominant)" "" "0000955076" "0" "90" "14" "65544747" "65544747" "subst" "0" "00006" "MAX_000009" "g.65544747C>T" "" "{PMID:Harris 2024:38141607}, {DOI:Harris 2024:10.1016/j.ajhg.2023.11.010}" "" "" "" "De novo" "" "" "0" "" "" "g.65078029C>T" "" "pathogenic (dominant)" "" "0000967521" "0" "70" "14" "65544747" "65544747" "subst" "0" "02327" "MAX_000009" "g.65544747C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001001099" "0" "50" "14" "65543211" "65543211" "subst" "4.06068E-6" "01804" "CHURC1-FNTB_000006" "g.65543211G>A" "" "" "" "MAX(NM_002382.4):c.466C>T (p.(Arg156Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001020343" "0" "50" "14" "65544706" "65544706" "subst" "0" "00118" "CHURC1-FNTB_000001" "g.65544706T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0001026396" "0" "30" "14" "65507574" "65507574" "subst" "6.50539E-5" "02327" "CHURC1_000004" "g.65507574C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026397" "0" "50" "14" "65527977" "65527977" "subst" "6.09097E-5" "02325" "CHURC1_000005" "g.65527977C>T" "" "" "" "CHURC1-FNTB(NM_001202559.1):c.1444C>T (p.P482S), FNTB(NM_002028.4):c.1261C>T (p.P421S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026398" "0" "30" "14" "65543187" "65543187" "subst" "0.000365485" "01804" "MAX_000014" "g.65543187G>A" "" "" "" "MAX(NM_001320415.1):c.*7C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001030912" "0" "70" "14" "65544747" "65544747" "subst" "0" "03820" "MAX_000009" "g.65544747C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.65078029C>T" "" "pathogenic (dominant)" "ACMG" "0001047202" "0" "30" "14" "65543066" "65543066" "subst" "0" "03779" "MAX_000019" "g.65543066A>T" "" "" "" "" "" "Unknown" "" "rs539193441" "0" "" "" "" "" "likely benign" "" "0001049002" "0" "10" "14" "65568884" "65568884" "subst" "0" "03779" "MAX_000023" "g.65568884G>A" "" "" "" "" "" "Unknown" "" "rs80185847" "0" "" "" "" "" "benign" "" "0001049016" "0" "30" "14" "65569181" "65569184" "del" "0" "03779" "MAX_000024" "g.65569181_65569184del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0001049111" "0" "30" "14" "65544749" "65544749" "subst" "1.62501E-5" "03779" "MAX_000021" "g.65544749G>C" "" "" "" "" "" "Unknown" "" "rs781103630" "0" "" "" "" "" "likely benign" "" "0001049112" "0" "30" "14" "65568197" "65568197" "subst" "0" "03779" "MAX_000022" "g.65568197C>T" "" "" "" "" "" "Unknown" "" "rs117197166" "0" "" "" "" "" "likely benign" "" "0001049129" "0" "30" "14" "65543496" "65543496" "subst" "0" "03779" "MAX_000020" "g.65543496G>A" "" "" "" "" "" "Unknown" "" "rs561646294" "0" "" "" "" "" "likely benign" "" "0001049435" "0" "30" "14" "65569181" "65569184" "del" "0" "03779" "MAX_000024" "g.65569181_65569184del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes MAX ## Count = 46 "{{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}}" "0000168953" "00024166" "77" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "1" "0000168954" "00024166" "77" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "1" "0000168955" "00024166" "77" "97" "0" "97" "0" "c.97C>T" "r.(?)" "p.(Arg33*)" "3" "0000168956" "00024166" "77" "67" "0" "67" "0" "c.67G>A" "r.(?)" "p.(Asp23Asn)" "3" "0000168957" "00024166" "77" "223" "0" "223" "0" "c.223C>T" "r.(?)" "p.(Arg75*)" "4" "0000168958" "00024166" "77" "223" "0" "223" "0" "c.223C>T" "r.(?)" "p.(Arg75*)" "4" "0000168959" "00024166" "77" "223" "0" "223" "0" "c.223C>T" "r.(?)" "p.(Arg75*)" "4" "0000168960" "00024166" "77" "223" "0" "223" "0" "c.223C>T" "r.(?)" "p.(Arg75*)" "4" "0000168961" "00024166" "77" "187" "0" "187" "0" "c.187del" "r.(?)" "p.(Ile63Serfs*2)" "4" "0000168962" "00024166" "77" "281" "0" "281" "0" "c.281T>C" "r.(?)" "p.(Leu94Pro)" "4" "0000168963" "00024166" "77" "295" "1" "295" "1" "c.295+1G>A" "r.172_295del" "p.Ala58Serfs*71" "4i" "0000168964" "00024166" "77" "425" "0" "425" "0" "c.425C>T" "r.(?)" "p.(Ser142Leu)" "5" "0000250471" "00024166" "30" "37" "-15" "37" "-15" "c.37-15del" "r.(=)" "p.(=)" "" "0000250472" "00024166" "30" "37" "-16" "37" "-16" "c.37-16T>C" "r.(=)" "p.(=)" "" "0000282398" "00024166" "30" "36" "11" "36" "11" "c.36+11G>C" "r.(=)" "p.(=)" "" "0000283640" "00024166" "30" "36" "11" "36" "11" "c.36+11G>C" "r.(=)" "p.(=)" "" "0000286134" "00024166" "90" "295" "1" "295" "1" "c.295+1G>A" "r.spl?" "p.?" "" "0000338581" "00024166" "30" "490" "0" "490" "0" "c.*7C>T" "r.(=)" "p.(=)" "" "0000552845" "00024166" "50" "220" "0" "220" "0" "c.220A>G" "r.(?)" "p.(Met74Val)" "" "0000552846" "00024166" "30" "37" "-15" "37" "-15" "c.37-15dup" "r.(=)" "p.(=)" "" "0000595716" "00024166" "50" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000648950" "00024166" "50" "406" "0" "406" "0" "c.406G>A" "r.(?)" "p.(Gly136Arg)" "" "0000660444" "00024166" "70" "242" "0" "243" "0" "c.242_243dup" "r.(?)" "p.(Gln82Thrfs*89)" "" "0000783224" "00024166" "70" "172" "-1" "482" "0" "c.(171+1_172-1)_(482_?)del" "r.?" "p.?" "3i_5_" "0000806465" "00024166" "30" "295" "17" "295" "17" "c.295+17G>A" "r.(=)" "p.(=)" "" "0000806466" "00024166" "30" "172" "-6230" "172" "-6230" "c.172-6230G>A" "r.(=)" "p.(=)" "" "0000806467" "00024166" "10" "37" "-15" "37" "-15" "c.37-15del" "r.(=)" "p.(=)" "" "0000830309" "00024166" "90" "289" "0" "289" "0" "c.289C>T" "r.(?)" "p.(Gln97Ter)" "" "0000891851" "00024166" "30" "295" "16" "295" "16" "c.295+16C>T" "r.(=)" "p.(=)" "" "0000955074" "00024166" "90" "179" "0" "179" "0" "c.179G>A" "r.(?)" "p.(Arg60Gln)" "" "0000955075" "00024166" "90" "179" "0" "179" "0" "c.179G>A" "r.(?)" "p.(Arg60Gln)" "" "0000955076" "00024166" "90" "179" "0" "179" "0" "c.179G>A" "r.(?)" "p.(Arg60Gln)" "" "0000967521" "00024166" "70" "179" "0" "179" "0" "c.179G>A" "r.(?)" "p.(Arg60Gln)" "" "0001001099" "00024166" "50" "466" "0" "466" "0" "c.466C>T" "r.(?)" "p.(Arg156Trp)" "" "0001020343" "00024166" "50" "220" "0" "220" "0" "c.220A>G" "r.(?)" "p.(Met74Val)" "" "0001026396" "00024166" "30" "36103" "0" "36103" "0" "c.*35620G>A" "r.(=)" "p.(=)" "" "0001026397" "00024166" "50" "15700" "0" "15700" "0" "c.*15217G>A" "r.(=)" "p.(=)" "" "0001026398" "00024166" "30" "490" "0" "490" "0" "c.*7C>T" "r.(=)" "p.(=)" "" "0001030912" "00024166" "70" "179" "0" "179" "0" "c.179G>A" "r.(?)" "p.Arg60Gln" "4" "0001047202" "00024166" "30" "611" "0" "611" "0" "c.*128T>A" "r.(?)" "p.(?)" "" "0001049002" "00024166" "10" "36" "138" "36" "138" "c.36+138C>T" "r.(?)" "p.(?)" "" "0001049016" "00024166" "30" "-110" "0" "-107" "0" "c.-110_-107del" "r.(?)" "p.(?)" "" "0001049111" "00024166" "30" "177" "0" "177" "0" "c.177C>G" "r.(?)" "p.(Ser59=)" "" "0001049112" "00024166" "30" "63" "67" "63" "67" "c.63+67G>A" "r.(?)" "p.(?)" "" "0001049129" "00024166" "30" "296" "-115" "296" "-115" "c.296-115C>T" "r.(?)" "p.(?)" "" "0001049435" "00024166" "30" "-110" "0" "-107" "0" "c.-110_-107del" "r.(?)" "p.(?)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{variantid}}" "0000104285" "0000168953" "0000104286" "0000168954" "0000104287" "0000168955" "0000104288" "0000168956" "0000104289" "0000168957" "0000104290" "0000168958" "0000104291" "0000168959" "0000104292" "0000168960" "0000104293" "0000168961" "0000104294" "0000168962" "0000104295" "0000168963" "0000104296" "0000168964" "0000265140" "0000595716" "0000292261" "0000648950" "0000297781" "0000660444" "0000373259" "0000783224" "0000398101" "0000830309" "0000446715" "0000955074" "0000446716" "0000955075" "0000446717" "0000955076" "0000466889" "0001030912"