### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ANTXR2) # 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}}" "ANTXR2" "anthrax toxin receptor 2" "4" "q21.3" "unknown" "NG_015987.1" "UD_132119069434" "" "https://www.LOVD.nl/ANTXR2" "" "1" "21732" "118429" "608041" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/ANTXR2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-11-19 19:53:00" "00006" "2025-03-25 15:52:57" ## 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}}" "00002597" "ANTXR2" "transcript variant 1" "001" "NM_058172.5" "" "NP_477520.2" "" "" "" "-763" "7279" "1467" "80994477" "80822771" "" "0000-00-00 00:00:00" "" "" ## 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" "01786" "HFS" "fibromatosis, hyaline syndrome (HFS)" "AR" "228600" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02294" "VMCM" "venous malformations, multiple cutaneous and mucosal (VMCM)" "AD" "600195" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ANTXR2" "01786" ## Individuals ## Do not remove or alter this header ## ## Count = 17 "{{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}}" "00081012" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "no information from parents" "" "" "" "" "0" "" "" "" "" "00207306" "" "" "" "1" "" "03008" "{PMID:Deuquet 2011:21328543}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Switzerland" "" "0" "" "" "" "21328543-Fam1PatII1" "00207307" "" "" "" "2" "" "03008" "PMID:Dowling 2003:12973667}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F;M" "" "Switzerland" "" "0" "" "" "" "12973667-FamISH2" "00207308" "" "" "" "1" "" "03008" "{PMID:Deuquet 2011:21328543}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Switzerland" "" "0" "" "" "" "21328543-Fam2PatII2" "00207309" "" "" "" "2" "" "03008" "{PMID:Hanks 2003:14508707}" "2-generation family, 2 affected, unaffected heterozygous carrier parents" "" "" "Switzerland" "" "0" "" "" "" "14508707-FamL" "00207310" "" "" "" "1" "" "03008" "{PMID:Deuquet 2011:21328543}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Swaziland" "" "0" "" "" "" "21328543-Fam4PatII2" "00207312" "" "" "" "1" "" "00006" "{PMID:Deuquet 2011:21328543}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Switzerland" "" "0" "" "" "" "21328543-Fam3PatII2" "00207313" "" "" "" "1" "" "00006" "{PMID:Dowling 2003:12973667}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "United States" "" "0" "" "" "African American" "12973667-FamJHF2" "00207314" "" "" "" "1" "" "00006" "{PMID:Dowling 2003:12973667}" "" "F" "yes" "Turkey" "" "0" "" "" "" "12973667-FamISH1" "00207315" "" "" "" "1" "" "00006" "{PMID:Dowling 2003:12973667}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Turkey" "" "0" "" "" "" "12973667-FamJHF1" "00293670" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00331321" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "F" "yes" "" "" "0" "" "" "Arab" "11DG0848" "00331322" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family" "F" "yes" "" "" "0" "" "" "Arab" "08DG00156" "00331323" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family" "F" "yes" "" "" "0" "" "" "Arab" "10DG1878" "00331324" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "M" "yes" "" "" "0" "" "" "Arab" "17DG1004" "00331325" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family" "M" "yes" "" "" "0" "" "" "Arab" "12DG2105" "00464531" "" "" "" "1" "" "04817" "{DOI:Romano 2025:10.3389/fgene.2025.1430657}" "" "" "no" "Italy" "" "0" "" "" "" "Pat5" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 17 "{{individualid}}" "{{diseaseid}}" "00081012" "01786" "00207306" "01786" "00207307" "01786" "00207308" "01786" "00207309" "01786" "00207310" "01786" "00207312" "01786" "00207313" "01786" "00207314" "01786" "00207315" "01786" "00293670" "00198" "00331321" "05517" "00331322" "05517" "00331323" "05517" "00331324" "05517" "00331325" "05517" "00464531" "02294" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01786, 02294, 05517 ## Count = 15 "{{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}}" "0000060581" "01786" "00081012" "01758" "Familial, autosomal recessive" "" "Hyaline fibromatosis syndrome (OMIM:228600)" "" "" "" "" "" "" "" "" "" "" "" "0000155100" "01786" "00207306" "03008" "Familial, autosomal recessive" "" "painful contractions in infancy, skin eruptions, gingival hypertrophy, failure to thrive, short stature, no intractable recurrent diarrhoea, no systemic inflammatory reaction, no recurrent infections" "" "02y" "" "" "" "" "" "" "HFS" "infantile systemic hyalinosis" "" "0000155101" "01786" "00207307" "03008" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HFS" "infantile systemic hyalinosis" "" "0000155102" "01786" "00207308" "03008" "Familial, autosomal recessive" "" "painful contractions in infancy, skin eruptions, gingival hypertrophy, failure to thrive, short stature, no intractable recurrent diarrhoea, no systemic inflammatory reaction, no recurrent infections" "" "14y" "" "" "" "" "" "" "HFS" "juvenile hyaline fibromatosis" "" "0000155103" "01786" "00207309" "03008" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HFS" "infantile systemic hyalinosis" "" "0000155104" "01786" "00207310" "03008" "Familial, autosomal recessive" "" "painful contractions in infancy, skin eruptions, gingival hypertrophy, failure to thrive, short stature, intractable recurrent diarrhoea, no systemic inflammatory reaction, no recurrent infections" "" "03y" "" "" "" "" "" "" "HFS" "infantile systemic hyalinosis" "" "0000155106" "01786" "00207312" "00006" "Familial, autosomal recessive" "" "painful contractions in infancy, skin eruptions, gingival hypertrophy, failure to thrive, short stature, intractable recurrent diarrhoea, systemic inflammatory reaction, recurrent infections" "" "00y00m42d" "" "" "" "" "" "" "HFS" "" "" "0000155107" "01786" "00207313" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HFS" "juvenile hyaline fibromatosis syndrome" "" "0000155108" "01786" "00207314" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HFS" "infantile hyaline fibromatosis syndrome" "" "0000155109" "01786" "00207315" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HFS" "juvenile hyaline fibromatosis syndrome" "" "0000249513" "05517" "00331321" "00000" "Familial, autosomal recessive" "" "Bilateral talipes equinovarus, Limb joint contracture, Limitation of joint mobility, ThickeneYes" "" "" "" "" "" "" "" "" "Genetic inflammatory/rheumatoid-like osteoarthropathies" "skeletal dysplasia" "" "0000249514" "05517" "00331322" "00000" "Familial, autosomal recessive" "" "Long philtrum, Rectal prolapse, Low-set ears, Depressed nasal bridge, Micrognathia, Thin vNo" "" "" "" "" "" "" "" "" "Genetic inflammatory/rheumatoid-like osteoarthropathies" "skeletal dysplasia" "" "0000249515" "05517" "00331323" "00000" "Familial, autosomal recessive" "" "Failure to thrive, Intractable diarrhea, Limb joint contracture, Limitation of joint mobility, No" "" "" "" "" "" "" "" "" "Genetic inflammatory/rheumatoid-like osteoarthropathies" "skeletal dysplasia" "" "0000249516" "05517" "00331324" "00000" "Familial, autosomal recessive" "" "Arthrogryposis multiplex congenita, Hip dysplasia, Global developmental delay, Hypoalbu No" "" "" "" "" "" "" "" "" "Genetic inflammatory/rheumatoid-like osteoarthropathies" "skeletal dysplasia" "" "0000249517" "05517" "00331325" "00000" "Familial, autosomal recessive" "" "Arthrogryposis multiplex congenita" "" "" "" "" "" "" "" "" "Genetic inflammatory/rheumatoid-like osteoarthropathies" "skeletal dysplasia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 17 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000081124" "00081012" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000208342" "00207306" "1" "03008" "00006" "2013-02-27 16:50:48" "" "" "SEQ" "DNA" "" "" "0000208343" "00207307" "1" "03008" "00006" "2013-03-21 19:52:33" "00006" "2013-03-22 15:55:39" "SEQ" "DNA" "" "" "0000208344" "00207308" "1" "03008" "00006" "2013-02-27 16:52:10" "" "" "SEQ" "DNA" "" "" "0000208345" "00207309" "1" "03008" "00006" "2013-02-27 16:45:38" "" "" "SEQ" "DNA" "" "" "0000208346" "00207310" "1" "03008" "00006" "2013-02-27 16:42:08" "" "" "SEQ" "DNA" "" "" "0000208348" "00207312" "1" "00006" "00006" "2018-11-19 20:22:27" "" "" "SEQ" "DNA" "" "" "0000208349" "00207313" "1" "00006" "00006" "2018-11-19 20:29:21" "" "" "SEQ" "DNA" "" "" "0000208350" "00207314" "1" "00006" "00006" "2018-11-19 20:40:21" "" "" "SEQ" "DNA" "" "" "0000208351" "00207315" "1" "00006" "00006" "2018-11-19 20:46:27" "" "" "SEQ" "DNA" "" "" "0000294838" "00293670" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000332540" "00331321" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332541" "00331322" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332542" "00331323" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332543" "00331324" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332544" "00331325" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000466169" "00464531" "1" "04817" "04817" "2025-03-25 10:42:05" "" "" "SEQ-NG" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{geneid}}" "0000081124" "ANTXR2" "0000208342" "ANTXR2" "0000208343" "ANTXR2" "0000208344" "ANTXR2" "0000208345" "ANTXR2" "0000208346" "ANTXR2" "0000208348" "ANTXR2" "0000208349" "ANTXR2" "0000208350" "ANTXR2" "0000208351" "ANTXR2" "0000332540" "ANTXR2" "0000332541" "ANTXR2" "0000332542" "ANTXR2" "0000332543" "ANTXR2" "0000332544" "ANTXR2" "0000466169" "ANTXR2" ## 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 = 33 "{{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}}" "0000130210" "3" "90" "4" "80993581" "80993581" "subst" "0" "01758" "ANTXR2_000011" "g.80993581A>G" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.80072427A>G" "" "pathogenic" "ACMG" "0000259103" "0" "10" "4" "80905990" "80905990" "subst" "0.768265" "02325" "ANTXR2_000013" "g.80905990C>G" "" "" "" "ANTXR2(NM_058172.6):c.1069G>C (p.A357P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.79984836C>G" "" "benign" "" "0000259104" "0" "10" "4" "80977078" "80977078" "subst" "0.674988" "02325" "ANTXR2_000015" "g.80977078T>G" "" "" "" "ANTXR2(NM_058172.6):c.378+8A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80055924T>G" "" "benign" "" "0000330024" "0" "50" "4" "80898843" "80898843" "subst" "0.000434548" "01804" "ANTXR2_000012" "g.80898843C>T" "" "" "" "ANTXR2(NM_001145794.1):c.1360G>A (p.(Ala454Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.79977689C>T" "" "VUS" "" "0000438171" "1" "90" "4" "80993599" "80993599" "subst" "0" "03008" "ANTXR2_000004" "g.80993599C>A" "" "{PMID:Deuquet 2011:21328543}, {PMID:Yan 2013:23554269}" "" "" "" "Germline" "" "" "0" "" "" "g.80072445C>A" "" "pathogenic (recessive)" "" "0000438172" "1" "90" "4" "80975496" "80975496" "subst" "0" "03008" "ANTXR2_000006" "g.80975496A>G" "" "{PMID:Dowling 2003:12973667}, {PMID:Yan 2013:23554269}" "" "" "" "Germline" "yes" "" "0" "" "" "g.80054342A>G" "" "pathogenic (recessive)" "" "0000438173" "1" "90" "4" "80940069" "80940069" "subst" "0" "03008" "ANTXR2_000005" "g.80940069C>A" "" "{PMID:Deuquet 2011:21328543}, {PMID:Yan 2013:23554269}" "" "" "" "Germline" "" "" "0" "" "" "g.80018915C>A" "" "pathogenic (recessive)" "" "0000438174" "1" "90" "4" "80905988" "80905989" "dup" "0" "03008" "ANTXR2_000002" "g.80905988_80905989dup" "" "{PMID:Hanks 2003:14508707}, {PMID:Yan 2013:23554269}" "" "1601-1602insCC" "" "Germline" "" "" "0" "" "" "g.79984834_79984835dup" "" "pathogenic (recessive)" "" "0000438175" "3" "90" "4" "80905989" "80905989" "dup" "0" "03008" "ANTXR2_000001" "g.80905989dup" "" "{PMID:Deuquet 2011:21328543}, {PMID:Yan 2013:23554269}" "" "1073_1074insC" "" "Germline" "" "" "0" "" "" "g.79984835dup" "" "pathogenic (recessive)" "" "0000438176" "2" "90" "4" "80905985" "80905985" "del" "4.17373E-5" "03008" "ANTXR2_000003" "g.80905985del" "" "{PMID:Deuquet 2011:21328543}, {PMID:Yan 2013:23554269}" "" "delT A359HfsX50" "" "Germline" "" "" "0" "" "" "g.79984831del" "" "pathogenic (recessive)" "" "0000438178" "2" "90" "4" "80905989" "80905989" "dup" "0" "00006" "ANTXR2_000001" "g.80905989dup" "" "{PMID:Dowling 2003:12973667}, {PMID:Yan 2013:23554269}" "" "P357 insC" "" "Germline" "yes" "" "0" "" "" "g.79984835dup" "" "pathogenic (recessive)" "" "0000438179" "2" "90" "4" "80905989" "80905989" "dup" "0" "00006" "ANTXR2_000001" "g.80905989dup" "" "{PMID:Deuquet 2011:21328543}, {PMID:Yan 2013:23554269}" "" "1073_1074insC" "" "Germline" "" "" "0" "" "" "g.79984835dup" "" "pathogenic (recessive)" "" "0000438180" "2" "90" "4" "80975496" "80975496" "subst" "0" "00006" "ANTXR2_000006" "g.80975496A>G" "" "{PMID:Hanks 2003:14508707}, {PMID:Yan 2013:23554269}" "" "1094T>C" "" "Germline" "" "" "0" "" "" "g.80054342A>G" "" "pathogenic (recessive)" "" "0000438181" "3" "90" "4" "80940052" "80940052" "subst" "0" "00006" "ANTXR2_000016" "g.80940052A>C" "" "{PMID:Deuquet 2011:21328543}" "" "" "" "Germline" "" "" "0" "" "" "g.80018898A>C" "" "pathogenic (recessive)" "" "0000438182" "3" "90" "4" "80929727" "80929727" "subst" "0" "00006" "ANTXR2_000017" "g.80929727A>C" "" "{PMID:Dowling 2003:12973667}" "" "T>G L329R" "" "Germline" "" "" "0" "" "" "g.80008573A>C" "" "pathogenic (recessive)" "" "0000438183" "3" "90" "4" "80957165" "80957165" "subst" "0" "00006" "ANTXR2_000018" "g.80957165C>A" "" "{PMID:Dowling 2003:12973667}" "" "G>T E220X" "" "Germline" "" "" "0" "" "" "g.80036011C>A" "" "pathogenic (recessive)" "" "0000438184" "3" "90" "4" "80977150" "80977150" "subst" "0" "00006" "ANTXR2_000019" "g.80977150C>T" "" "{PMID:Dowling 2003:12973667}" "" "G>A G105D" "" "Germline" "" "" "0" "" "" "g.80055996C>T" "" "pathogenic (recessive)" "" "0000523325" "0" "90" "4" "80899214" "80899214" "subst" "4.08123E-6" "01804" "ANTXR2_000020" "g.80899214G>A" "" "" "" "ANTXR2(NM_058172.5):c.1294C>T (p.(Arg432Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.79978060G>A" "" "pathogenic" "" "0000523326" "0" "90" "4" "80905985" "80905985" "del" "4.17373E-5" "02325" "ANTXR2_000003" "g.80905985del" "" "" "" "ANTXR2(NM_058172.6):c.1074del (p.(Ala359HisfsTer50)), ANTXR2(NM_058172.6):c.1074delT (p.A359Hfs*50)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.79984831del" "" "pathogenic" "" "0000523328" "0" "70" "4" "80992755" "80992755" "dup" "0" "01804" "ANTXR2_000022" "g.80992755dup" "" "" "" "ANTXR2(NM_058172.5):c.207dup (p.(Ala70CysfsTer8))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80071601dup" "" "likely pathogenic" "" "0000609304" "0" "90" "4" "80899321" "80899321" "dup" "0" "02327" "ANTXR2_000023" "g.80899321dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.79978167dup" "" "pathogenic" "" "0000651527" "1" "90" "4" "80899205" "80899205" "del" "0" "03575" "ANTXR2_000024" "g.80899205del" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs797045028}" "Germline" "" "rs797045028" "0" "" "" "g.79978051del" "" "pathogenic" "" "0000720019" "0" "90" "4" "80905061" "80905061" "subst" "1.6381E-5" "02325" "ANTXR2_000025" "g.80905061G>A" "" "" "" "ANTXR2(NM_058172.6):c.1150C>T (p.R384*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000729822" "3" "90" "4" "80993581" "80993581" "subst" "0" "00000" "ANTXR2_000011" "g.80993581A>G" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_058172.5:c.134T>C:p.(Leu45Pro)" "" "Germline" "" "" "0" "" "" "g.80072427A>G" "" "pathogenic (recessive)" "" "0000729823" "3" "90" "4" "80905985" "80905985" "del" "4.17373E-5" "00000" "ANTXR2_000003" "g.80905985del" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_058172.5:c.1074delT:p.(Ala359Hisfs*50)" "" "Germline" "" "" "0" "" "" "g.79984831del" "" "pathogenic (recessive)" "" "0000729824" "3" "90" "4" "80940052" "80940130" "del" "0" "00000" "ANTXR2_000026" "g.80940052_80940130del" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_058172.5:c.867_945del79:p.(Glu289Aspfs*22)" "" "Germline" "" "" "0" "" "" "g.80018898_80018976del" "" "pathogenic (recessive)" "" "0000729825" "3" "90" "4" "80954702" "80954702" "del" "0" "00000" "ANTXR2_000027" "g.80954702del" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_058172.5:c.720del:p.(Ser240Argfs*20)" "" "Germline" "" "" "0" "" "" "g.80033548del" "" "likely pathogenic (recessive)" "" "0000729826" "3" "90" "4" "80993581" "80993581" "subst" "0" "00000" "ANTXR2_000011" "g.80993581A>G" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_058172.5:c.134T>C:p.(Leu45Pro)" "" "Germline" "" "" "0" "" "" "g.80072427A>G" "" "pathogenic (recessive)" "" "0000850678" "0" "30" "4" "80954682" "80954682" "subst" "0" "01804" "ANTXR2_000028" "g.80954682C>G" "" "" "" "ANTXR2(NM_001145794.1):c.740G>C (p.(Gly247Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976385" "0" "90" "4" "80905985" "80905985" "del" "4.17373E-5" "01804" "ANTXR2_000003" "g.80905985del" "" "" "" "ANTXR2(NM_058172.6):c.1074del (p.(Ala359HisfsTer50)), ANTXR2(NM_058172.6):c.1074delT (p.A359Hfs*50)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000994448" "0" "30" "4" "80905989" "80905989" "subst" "0.000352345" "01804" "ANTXR2_000029" "g.80905989G>C" "" "" "" "ANTXR2(NM_058172.5):c.1070C>G (p.(Ala357Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013988" "0" "90" "4" "80905069" "80905069" "subst" "0" "02327" "ANTXR2_000030" "g.80905069T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001030040" "1" "90" "4" "80905989" "80905989" "del" "0" "04817" "ANTXR2_000031" "g.80905989del" "" "{DOI:Romano 2025:10.3389/fgene.2025.1430657}" "" "1070del" "biallelic pathogenic/likely pathogenic variants are associated with a different phenotype (Hyaline Fibromatosis Syndrome (OMIM #228600)" "Germline" "?" "" "0" "" "" "g.79984835del" "" "pathogenic" "ACMG" ## 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 ANTXR2 ## Count = 33 "{{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}}" "0000130210" "00002597" "90" "134" "0" "134" "0" "c.134T>C" "r.(?)" "p.(Leu45Pro)" "" "0000259103" "00002597" "10" "1069" "0" "1069" "0" "c.1069G>C" "r.(?)" "p.(Ala357Pro)" "" "0000259104" "00002597" "10" "378" "8" "378" "8" "c.378+8A>C" "r.(=)" "p.(=)" "" "0000330024" "00002597" "50" "1360" "0" "1360" "0" "c.1360G>A" "r.(?)" "p.(Ala454Thr)" "" "0000438171" "00002597" "90" "116" "0" "116" "0" "c.116G>T" "r.(?)" "p.(Cys39Phe)" "1" "0000438172" "00002597" "90" "566" "0" "566" "0" "c.566T>C" "r.(?)" "p.(Ile189Thr)" "7" "0000438173" "00002597" "90" "928" "0" "928" "0" "c.928G>T" "r.(?)" "p.(Val310Phe)" "11" "0000438174" "00002597" "90" "1072" "0" "1073" "0" "c.1072_1073dup" "r.(?)" "p.(Ala359Leufs*51)" "13" "0000438175" "00002597" "90" "1073" "0" "1073" "0" "c.1073dup" "r.(?)" "p.(Ala359Cysfs*13)" "13" "0000438176" "00002597" "90" "1074" "0" "1074" "0" "c.1074del" "r.(?)" "p.(Ala359Hisfs*50)" "13" "0000438178" "00002597" "90" "1073" "0" "1073" "0" "c.1073dup" "r.(?)" "p.(Ala359Cysfs*13)" "" "0000438179" "00002597" "90" "1073" "0" "1073" "0" "c.1073dup" "r.(?)" "p.(Ala359Cysfs*13)" "" "0000438180" "00002597" "90" "566" "0" "566" "0" "c.566T>C" "r.(?)" "p.(Ile189Thr)" "" "0000438181" "00002597" "90" "945" "0" "945" "0" "c.945T>G" "r.(?)" "p.(Cys315Trp)" "" "0000438182" "00002597" "90" "989" "0" "989" "0" "c.989T>G" "r.(?)" "p.(Leu330Arg)" "" "0000438183" "00002597" "90" "658" "0" "658" "0" "c.658G>T" "r.(?)" "p.(Glu220*)" "" "0000438184" "00002597" "90" "314" "0" "314" "0" "c.314G>A" "r.(?)" "p.(Gly105Asp)" "" "0000523325" "00002597" "90" "1294" "0" "1294" "0" "c.1294C>T" "r.(?)" "p.(Arg432Ter)" "" "0000523326" "00002597" "90" "1074" "0" "1074" "0" "c.1074del" "r.(?)" "p.(Ala359HisfsTer50)" "" "0000523328" "00002597" "70" "207" "0" "207" "0" "c.207dup" "r.(?)" "p.(Ala70CysfsTer8)" "" "0000609304" "00002597" "90" "1190" "0" "1190" "0" "c.1190dup" "r.(?)" "p.(Asp398Ter)" "" "0000651527" "00002597" "90" "1305" "0" "1305" "0" "c.1305del" "r.(?)" "p.(Thr436Hisfs*24)" "" "0000720019" "00002597" "90" "1150" "0" "1150" "0" "c.1150C>T" "r.(?)" "p.(Arg384*)" "" "0000729822" "00002597" "90" "134" "0" "134" "0" "c.134T>C" "r.(?)" "p.(Leu45Pro)" "" "0000729823" "00002597" "90" "1074" "0" "1074" "0" "c.1074del" "" "" "" "0000729824" "00002597" "90" "867" "0" "945" "0" "c.867_945del" "r.(?)" "p.(Glu289Aspfs*22)" "" "0000729825" "00002597" "90" "720" "0" "720" "0" "c.720del" "r.(?)" "p.(Ser240Argfs*20)" "" "0000729826" "00002597" "90" "134" "0" "134" "0" "c.134T>C" "r.(?)" "p.(Leu45Pro)" "" "0000850678" "00002597" "30" "740" "0" "740" "0" "c.740G>C" "r.(?)" "p.(Gly247Ala)" "" "0000976385" "00002597" "90" "1074" "0" "1074" "0" "c.1074del" "r.(?)" "p.(Ala359HisfsTer50)" "" "0000994448" "00002597" "30" "1070" "0" "1070" "0" "c.1070C>G" "r.(?)" "p.(Ala357Gly)" "" "0001013988" "00002597" "90" "1142" "0" "1142" "0" "c.1142A>G" "r.(?)" "p.(Tyr381Cys)" "" "0001030040" "00002597" "90" "1073" "0" "1073" "0" "c.1073del" "r.(1073del)" "p.(Pro358Leufs*51)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{variantid}}" "0000081124" "0000130210" "0000208342" "0000438171" "0000208342" "0000438176" "0000208343" "0000438172" "0000208343" "0000438178" "0000208344" "0000438173" "0000208344" "0000438179" "0000208345" "0000438174" "0000208345" "0000438180" "0000208346" "0000438175" "0000208348" "0000438181" "0000208349" "0000438182" "0000208350" "0000438183" "0000208351" "0000438184" "0000294838" "0000651527" "0000332540" "0000729822" "0000332541" "0000729823" "0000332542" "0000729824" "0000332543" "0000729825" "0000332544" "0000729826" "0000466169" "0001030040"