### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = AEBP1) # 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}}" "AEBP1" "AE binding protein 1" "7" "p13" "unknown" "NG_056775.1" "UD_132438840722" "" "https://www.LOVD.nl/AEBP1" "" "1" "303" "165" "602981" "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/AEBP1_codingDNA.html" "1" "" "

Ehlers Danlos Syndrome Variant Database

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" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00085" "2024-02-13 13:39:11" "00006" "2025-06-07 12:28:14" ## 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}}" "00025235" "AEBP1" "AE binding protein 1" "001" "NM_001129.4" "" "NP_001120.3" "" "" "" "-305" "3781" "3477" "44143960" "44154164" "00006" "2017-10-25 15:31:59" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00169" "EDS" "Ehlers-Danlos syndrome (EDS)" "" "" "" "" "" "00006" "2013-08-01 11:03:44" "00006" "2021-12-10 21:51:32" "06758" "EDSCLL2" "Ehlers-Danlos syndrome, classic-like, 2" "AR" "618000" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "AEBP1" "06758" ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{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}}" "00164776" "" "" "" "2" "" "02267" "" "2 affected siblings (1F, 1M), unaffected heterozygous mother" "F" "no" "(Greece)" "" "0" "yes" "corset, hand splints" "" "FamD-II:1" "00164777" "" "" "" "1" "" "02267" "{PMID:Blackburn 2019:29606302}" "2-generation family, 1 affected, unaffected carrier parents" "M" "no" "Germany;Panama" "" "0" "no" "" "white" "29606302-FamAII1" "00164779" "" "" "" "1" "" "02267" "{PMID:Blackburn 2018:29606302}" "2-generation family, 1 affected, unaffected carrier parents" "M" "no" "Italy" "" "0" "" "" "white" "29606302-FamBII1" "00164781" "" "" "" "2" "" "02267" "{PMID:Alazami 2016:27023906}, {PMID:Blackburn 2018:29606302}" "The ID for this family is 14DG1601. The patient has an affected older brother who is also homozygous for the pathogenic variant. The parents are consanguineous: double first cousins. The siblings presented here were later reported by Blackburn et al., 2018 as Family C." "F" "yes" "Saudi Arabia" "" "0" "" "" "middle eastern" "Fam1;FamCPatIV4/6" "00319458" "" "" "" "1" "" "01819" "{PMID:Syx et al., 2019:30668708}" "The proband\'s parents are consanguineous,The technique used was whole exome sequencing." "" "" "" "" "0" "" "" "white" "" "00319459" "" "" "" "1" "" "01819" "{PMID:Syx et al., 2019:30668708}" "The splice site variant causes loss of 114 bp corresponding to an in-frame deletion of 38 amino acids.The technique used was whole exome sequencing." "" "" "" "" "0" "" "" "white" "" "00319460" "" "" "" "1" "" "00085" "{PMID:Hebebrand et al., 2019:30548383}" "The patient has an older brother who is also homozygous for the pathogenic variant. Their parents are non-consanguineous.The technique used was the custom exome panel." "" "" "Greece" "" "0" "" "" "Greek" "" "00319461" "" "" "" "1" "" "03705" "{PMID:Ritelli et al., 2019:30759870}" "The proband\'s parents are second cousins." "" "" "Italy" "" "0" "" "" "Italian" "" "00413450" "" "" "" "1" "" "00006" "{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}" "" "" "" "" "" "0" "" "" "" "" "00413451" "" "" "" "1" "" "00006" "{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}" "" "" "" "" "" "0" "" "" "" "" "00427963" "" "" "" "1" "" "04335" "{PMID:Sanai 2023:36600409}, {DOI:Sanai 2023:10.1111/jog.15541}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "" "Japan" "" "0" "" "" "" "patient" "00457221" "" "" "" "1" "" "04693" "{PMID:Ha 2024:38674395}" "16-year-old female patient of Syrian descent with a clinical diagnosis of clEDS2, short stature, and premature birth; unaffected heterozygous carrier parents" "F" "no" "Syria" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00164776" "00169" "00164777" "00169" "00164779" "00169" "00164781" "00169" "00319458" "00169" "00319459" "00169" "00319460" "00169" "00319461" "00169" "00413450" "00169" "00413451" "00169" "00427963" "06758" "00457221" "06758" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00169, 06758 ## Count = 12 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Hearing/Problems}}" "{{Phenotype/Enzyme/CreatineKinase}}" "{{Phenotype/Muscle/Electromyography}}" "{{Phenotype/Muscle/Biopsy}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000129794" "00169" "00164776" "02267" "Familial, autosomal recessive" "39y" "Poor wound healing, Atypical scarring of skin, Bruising susceptibility, Prominent superficial veins, Hernia, Mitral valve prolapse, Structural foot deformity, Prematurely aged appearance, kyphoscoliosis\r\n\r\n\r\n," "13y?" "normal" "" "" "" "39y" "Hyperextensible skin, Redundant skin, Dislocations, Joint hypermobility" "" "" "" "" "" "" "0000129795" "00169" "00164777" "02267" "Familial, autosomal recessive" "35y" "Joint hypermobility, Dislocations, Hyperextensible skin, Redundant skin, Poor wound healing, Atypical scarring of skin, Bruising susceptibility, Mitral valve prolapse, Severe osteopenia, Structural foot deformity, cryptorchidism, motor delay, impaired temperature sensation, keratoconjuncitivitis sicca, Piezogenic pedal papules" "" "nr" "" "" "" "" "" "" "" "" "" "" "" "0000129797" "00169" "00164779" "02267" "Familial, autosomal recessive" "33y" "Joint hypermobility, Dislocations, Hyperextensible skin, Redundant skin, Poor wound healing, Atypical scarring of skin, Bruising susceptibility, Prominent superficial veins, Hernia, scoliosis, thoracic scoliosis, facet joint arthrosis, degenerative disc disease, severe osteopenia, mitral valve prolapse, aortic dilatation, carotid artery stenosis, structural foot deformity, Piezogenic pedal papules, sacral dimple, hypertriglyceridemia MRI: empty sella" "" "normal" "" "" "" "" "" "" "" "" "" "" "" "0000129800" "00169" "00164781" "02267" "Familial, autosomal recessive" "12y" "Joint hypermobility, Dislocations, Hyperextensible skin, Redundant skin, Poor wound healing, Atypical scarring of skin, Bruising susceptibility, hernias, Interpedicular narrowing, severe osteopenia, structural foot deformity, congenital hypotonia, poor feeding, motor delay, diabetes mellitus, cellulitis, micrognathia, high arched palate, bilateral ptosis," "" "normal" "" "" "" "" "" "" "" "" "" "" "" "0000241898" "00169" "00319458" "01819" "-" "" "Originally described as EDS Autosomal Recessive," "" "" "" "" "" "" "" "" "" "" "" "" "" "0000241899" "00169" "00319459" "01819" "-" "" "Originally described as EDS Autosomal Recessive," "" "" "" "" "" "" "" "" "" "" "" "" "" "0000241900" "00169" "00319460" "00085" "-" "" "Originally described as EDS Autosomal Recessive," "" "" "" "" "" "" "" "" "" "" "" "" "" "0000241901" "00169" "00319461" "03705" "-" "" "Originally described as EDS Autosomal Recessive," "" "" "" "" "" "" "" "" "" "" "" "" "" "0000305423" "00169" "00413450" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Ehlers-Danlos syndrome" "0000305424" "00169" "00413451" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Ehlers-Danlos syndrome" "0000318909" "06758" "00427963" "04335" "Familial, autosomal recessive" "35y" "" "00y" "" "" "" "" "03y" "" "" "" "" "" "" "" "0000345714" "06758" "00457221" "04693" "Familial, autosomal recessive" "16y" "Congenital bilateral hip dislocation (HP:0008780); varicose veins (HP:0002619), short stature (HP:0004322); increased muscle fatiguability (HP:0003750); hyperextensible skin (HP:0000974); bruising susceptibility (HP:0000978); generalized joint hypermobility (HP:0002761); limb pain (HP:0009763); dry hair (HP:0011359); sparse scalp hair (HP:0002209); brittle scalp hair (HP:0004779); narrow face (HP:0000275); narrow nasal bridge (HP:0000446); thin skin (HP:0000963); cigarette-paper scars (HP:0001073); keloids (HP:0010562); increased laxity of fingers (HP:0006149); pes planus (HP:0001763); herniation of intervertebral nuclei (HP:0008441);" "00y" "" "" "" "" "16y" "Congenital bilateral hip dislocation (HP:0008780)" "" "" "" "" "EDSCLL2" "Ehlers-Danlos syndrome" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000165642" "00164776" "1" "02267" "02267" "2018-06-12 14:31:23" "" "" "SEQ-NG" "DNA" "" "Gene panel" "0000165643" "00164777" "1" "02267" "02267" "2018-06-12 14:58:58" "03701" "2020-11-09 11:33:59" "SEQ-NG" "DNA" "" "Whole Exome Sequencing (WES)" "0000165645" "00164779" "1" "02267" "02267" "2018-06-12 15:34:32" "03701" "2020-11-09 11:29:25" "SEQ-NG" "DNA" "" "The method used was WGS." "0000165648" "00164781" "1" "02267" "02267" "2018-06-12 15:55:54" "00006" "2025-06-07 12:27:03" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000320639" "00319458" "1" "01819" "01819" "2018-11-05 03:21:27" "00085" "2019-05-02 14:37:24" "SEQ;SEQ-NG" "DNA" "" "" "0000320640" "00319459" "1" "01819" "01819" "2018-11-05 03:28:17" "00085" "2019-05-02 14:36:30" "RT-PCR;SEQ;SEQ-NG" "DNA" "" "" "0000320641" "00319460" "1" "00085" "00085" "2019-08-15 11:17:47" "00085" "2019-08-15 11:23:21" "SEQ-NG" "DNA" "" "" "0000320642" "00319461" "1" "03705" "03705" "2018-11-16 11:12:08" "00085" "2019-05-02 13:51:49" "PCR;SEQ" "DNA" "" "" "0000414727" "00413450" "1" "00006" "00006" "2022-07-18 17:04:47" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000414728" "00413451" "1" "00006" "00006" "2022-07-18 17:04:47" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000429376" "00427963" "1" "04335" "04335" "2022-12-19 10:07:50" "" "" "SEQ-NG" "DNA" "" "WES" "0000458840" "00457221" "1" "04693" "04693" "2024-11-02 13:15:16" "" "" "SEQ-NG" "DNA" "" "Blueprint Genetics Ehlers-Danlos Syndrome Panel (41 genes)" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000165648" "AEBP1" "0000320639" "AEBP1" "0000320640" "AEBP1" "0000320641" "AEBP1" "0000320642" "AEBP1" ## 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 = 54 "{{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}}" "0000345611" "0" "50" "7" "44153357" "44153357" "subst" "4.46795E-5" "02327" "AEBP1_000012" "g.44153357G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44113758G>A" "" "VUS" "" "0000369377" "3" "90" "7" "44147660" "44147660" "dup" "0" "02267" "AEBP1_000005" "g.44147660dup" "gnomAD 2/229558" "" "" "" "The homozygous c.917dup variant in exon 6 of AEBP1 gene was identified in two Greek siblings with an Ehlers-Danlos Syndrome associated connective tissue disorder. This variant is predicted to directly cause a premature termination codon (p.Tyr306*). Sanger sequencing of cDNA showed a predominant expression of the normal allele in the carrier mother. This indicates a nonsense-mediated decay of c.917dup allele, suggesting a null variant in the affected individuals." "Germline" "yes" "" "0" "" "" "g.44108061dup" "" "pathogenic (recessive)" "ACMG" "0000369378" "21" "90" "7" "44150393" "44150393" "del" "0" "02267" "AEBP1_000013" "g.44150393del" "" "{PMID:Blackburn 2018:29606302}" "" "1470delC" "compound heterozygous case" "Germline" "" "" "0" "" "" "g.44110794del" "545023" "pathogenic" "ACMG" "0000369380" "3" "90" "7" "44149865" "44149871" "del" "0" "02267" "AEBP1_000015" "g.44149865_44149871del" "" "{PMID:Blackburn 2018:29606302}" "" "" "" "Germline" "" "" "0" "" "" "g.44110266_44110272del" "535288" "pathogenic" "ACMG" "0000369383" "3" "90" "7" "44150657" "44150657" "subst" "3.32339E-5" "02267" "AEBP1_000016" "g.44150657G>A" "" "{PMID:Blackburn 2018:29606302}, {PMID:Alazami 2016:27023906}" "" "" "The splice-site variant activates an upstream cryptic splice site that results in skipping of the last 22 nucleotides of exon 13." "Germline" "yes" "rs369016031" "0" "" "" "g.44111058G>A" "535285" "pathogenic" "ACMG" "0000369749" "11" "90" "7" "44151132" "44151132" "subst" "0" "02267" "AEBP1_000014" "g.44151132C>A" "" "{PMID:Blackburn 2018:29606302}" "" "" "compound heterozygous case" "Germline" "yes" "rs777647845" "0" "" "" "g.44111533C>A" "535286" "pathogenic" "ACMG" "0000703359" "3" "77" "7" "44146253" "44146253" "dup" "0" "01819" "AEBP1_000001" "g.44146253dup" "" "{PMID:Syx et al., 2019:30668708}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000703360" "21" "99" "7" "44146334" "44146334" "dup" "0" "01819" "AEBP1_000002" "g.44146334dup" "" "{PMID:Syx et al., 2019:30668708}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703361" "3" "99" "7" "44147660" "44147660" "dup" "0" "00085" "AEBP1_000005" "g.44147660dup" "" "{PMID:Hebebrand et al., 2019:30548383}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703362" "11" "99" "7" "44148939" "44148942" "del" "0" "01819" "AEBP1_000003" "g.44148939_44148942del" "" "{PMID:Syx et al., 2019:30668708}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703363" "3" "99" "7" "44151537" "44151537" "subst" "8.13524E-6" "03705" "AEBP1_000004" "g.44151537T>C" "" "{PMID:Ritelli et al., 2019:30759870}" "" "" "" "Unknown" "" "rs753531562" "0" "" "" "" "" "pathogenic" "" "0000721457" "0" "30" "7" "44148571" "44148571" "subst" "0" "01943" "AEBP1_000017" "g.44148571G>A" "" "" "" "AEBP1(NM_001129.4):c.1014G>A (p.E338=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721458" "0" "30" "7" "44148579" "44148582" "del" "0" "01943" "AEBP1_000018" "g.44148579_44148582del" "" "" "" "AEBP1(NM_001129.4):c.1016_1018+1delTGAG, AEBP1(NM_001129.5):c.1016_1018+1delTGAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721459" "0" "30" "7" "44153474" "44153474" "subst" "0.00249238" "01943" "POLD2_000002" "g.44153474G>A" "" "" "" "AEBP1(NM_001129.4):c.3091G>A (p.A1031T), AEBP1(NM_001129.5):c.3091G>A (p.A1031T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721460" "0" "50" "7" "44153484" "44153484" "subst" "4.09497E-6" "01943" "POLD2_000003" "g.44153484G>A" "" "" "" "AEBP1(NM_001129.4):c.3101G>A (p.R1034Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721461" "0" "30" "7" "44153501" "44153501" "subst" "5.73446E-5" "01943" "POLD2_000004" "g.44153501G>A" "" "" "" "AEBP1(NM_001129.4):c.3118G>A (p.A1040T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803154" "0" "30" "7" "44144480" "44144480" "subst" "0" "02329" "AEBP1_000019" "g.44144480G>C" "" "" "" "AEBP1(NM_001129.5):c.216G>C (p.G72=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803155" "0" "30" "7" "44148579" "44148582" "del" "0" "02329" "AEBP1_000018" "g.44148579_44148582del" "" "" "" "AEBP1(NM_001129.4):c.1016_1018+1delTGAG, AEBP1(NM_001129.5):c.1016_1018+1delTGAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803156" "0" "30" "7" "44148949" "44148949" "subst" "2.94779E-5" "01943" "AEBP1_000020" "g.44148949G>A" "" "" "" "AEBP1(NM_001129.4):c.1150+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851618" "0" "30" "7" "44146451" "44146451" "subst" "0.00350219" "01943" "AEBP1_000023" "g.44146451C>G" "" "" "" "AEBP1(NM_001129.4):c.560C>G (p.P187R), AEBP1(NM_001129.5):c.560C>G (p.P187R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851619" "0" "10" "7" "44149603" "44149603" "subst" "0.00380468" "02329" "POLD2_000005" "g.44149603C>T" "" "" "" "AEBP1(NM_001129.5):c.1151-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851620" "0" "10" "7" "44149875" "44149875" "subst" "0.00509051" "02329" "POLD2_000007" "g.44149875A>T" "" "" "" "AEBP1(NM_001129.5):c.1330A>T (p.I444L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851621" "0" "10" "7" "44150504" "44150504" "subst" "0.00115824" "02329" "MIR4649_000001" "g.44150504C>G" "" "" "" "AEBP1(NM_001129.5):c.1486-8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000860788" "0" "10" "7" "44144285" "44144285" "subst" "0.00222724" "02329" "AEBP1_000021" "g.44144285G>A" "" "" "" "AEBP1(NM_001129.5):c.21G>A (p.A7=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000860789" "0" "50" "7" "44146158" "44146158" "subst" "0.0003152" "01943" "AEBP1_000022" "g.44146158G>C" "" "" "" "AEBP1(NM_001129.4):c.267G>C (p.K89N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860790" "0" "10" "7" "44147041" "44147041" "subst" "0.00468085" "02329" "AEBP1_000024" "g.44147041C>T" "" "" "" "AEBP1(NM_001129.5):c.599C>T (p.A200V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000860791" "0" "30" "7" "44147638" "44147638" "subst" "0.000139466" "01943" "AEBP1_000025" "g.44147638C>T" "" "" "" "AEBP1(NM_001129.4):c.895C>T (p.P299S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860792" "0" "30" "7" "44148747" "44148747" "subst" "0" "01943" "AEBP1_000026" "g.44148747G>A" "" "" "" "AEBP1(NM_001129.4):c.1060G>A (p.D354N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860793" "0" "30" "7" "44149606" "44149606" "subst" "0.00071438" "01943" "POLD2_000006" "g.44149606G>A" "" "" "" "AEBP1(NM_001129.4):c.1151-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860794" "0" "30" "7" "44149903" "44149903" "subst" "9.75753E-5" "01943" "POLD2_000008" "g.44149903G>A" "" "" "" "AEBP1(NM_001129.4):c.1358G>A (p.R453Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860795" "0" "50" "7" "44151467" "44151467" "subst" "4.10287E-6" "01943" "POLD2_000009" "g.44151467C>T" "" "" "" "AEBP1(NM_001129.4):c.1855C>T (p.R619C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000872432" "3" "90" "7" "44146253" "44146253" "dup" "0" "00006" "AEBP1_000001" "g.44146253dup" "" "{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}" "" "362dupA" "" "Germline" "" "" "0" "" "" "g.44106654dup" "" "pathogenic (recessive)" "" "0000872433" "1" "90" "7" "44146334" "44146334" "dup" "0" "00006" "AEBP1_000002" "g.44146334dup" "" "{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}" "" "443dupA" "" "Germline" "" "" "0" "" "" "g.44106735dup" "" "pathogenic (recessive)" "" "0000872436" "2" "90" "7" "44148939" "44148942" "" "0" "00006" "AEBP1_000003" "g.44148939_44148942del" "" "{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}" "" "" "" "Germline" "" "" "0" "" "" "g.44109340_44109343del" "" "pathogenic (recessive)" "" "0000887893" "0" "10" "7" "44153474" "44153474" "subst" "0.00249238" "02329" "POLD2_000002" "g.44153474G>A" "" "" "" "AEBP1(NM_001129.4):c.3091G>A (p.A1031T), AEBP1(NM_001129.5):c.3091G>A (p.A1031T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000908845" "3" "90" "7" "44151506" "44151506" "subst" "4.07319E-6" "04335" "AEBP1_000027" "g.44151506C>T" "" "{PMID:Sanai 2023:36600409}, {DOI:Sanai 2023:10.1111/jog.15541}" "" "" "" "Germline" "" "" "0" "" "" "g.44111907C>T" "" "pathogenic (recessive)" "ACMG" "0000912758" "0" "30" "7" "44153483" "44153483" "subst" "0" "02329" "POLD2_000010" "g.44153483C>A" "" "" "" "AEBP1(NM_001129.5):c.3100C>A (p.R1034=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924719" "0" "10" "7" "44151666" "44151666" "subst" "0.00254235" "02329" "POLD2_000011" "g.44151666G>A" "" "" "" "AEBP1(NM_001129.5):c.2037+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000948912" "0" "30" "7" "44153539" "44153539" "subst" "1.64916E-5" "02329" "POLD2_000012" "g.44153539G>C" "" "" "" "AEBP1(NM_001129.5):c.3156G>C (p.T1052=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964595" "0" "30" "7" "44146710" "44146710" "subst" "0" "02329" "AEBP1_000030" "g.44146710A>G" "" "" "" "AEBP1(NM_001129.5):c.595+224A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977710" "0" "30" "7" "44144501" "44144501" "subst" "0" "02329" "AEBP1_000031" "g.44144501A>G" "" "" "" "AEBP1(NM_001129.5):c.237A>G (p.P79=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977711" "0" "30" "7" "44149111" "44149111" "subst" "0" "02329" "AEBP1_000032" "g.44149111C>G" "" "" "" "AEBP1(NM_001129.5):c.1150+171C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977712" "0" "30" "7" "44153049" "44153049" "subst" "0" "02329" "POLD2_000013" "g.44153049G>C" "" "" "" "AEBP1(NM_001129.5):c.2809+99G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996522" "0" "30" "7" "44146465" "44146465" "subst" "0.000135666" "01804" "AEBP1_000033" "g.44146465G>A" "" "" "" "AEBP1(NM_001129.4):c.574G>A (p.(Glu192Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996523" "0" "50" "7" "44148738" "44148738" "subst" "0" "01804" "AEBP1_000034" "g.44148738G>A" "" "" "" "AEBP1(NM_001129.4):c.1051G>A (p.(Glu351Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996524" "0" "30" "7" "44152331" "44152331" "subst" "0" "01804" "POLD2_000014" "g.44152331G>A" "" "" "" "AEBP1(NM_001129.4):c.2392G>A (p.(Asp798Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996525" "0" "30" "7" "44153427" "44153427" "subst" "0.000179069" "01804" "POLD2_000015" "g.44153427A>T" "" "" "" "AEBP1(NM_001129.4):c.3044A>T (p.(Gln1015Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996526" "0" "50" "7" "44156808" "44156808" "subst" "0" "01804" "POLD2_000016" "g.44156808C>T" "" "" "" "POLD2(NM_001256879.1):c.505G>A (p.(Gly169Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014355" "0" "10" "7" "44149604" "44149604" "subst" "0.000905529" "02329" "POLD2_000017" "g.44149604G>A" "" "" "" "AEBP1(NM_001129.5):c.1151-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001016408" "3" "79" "7" "44153306" "44153306" "del" "0" "04693" "AEBP1_000035" "g.44153306del" "" "{PMID:Ha 2024:38674395}" "" "" "Confirmed inherited from asymptomatic parents (both heterozygous carriers)" "Germline" "" "" "0" "" "" "g.44113707del" "{CV:2686014}" "likely pathogenic (recessive)" "ACMG" "0001025395" "0" "30" "7" "44146451" "44146451" "subst" "0.00350219" "02329" "AEBP1_000023" "g.44146451C>G" "" "" "" "AEBP1(NM_001129.4):c.560C>G (p.P187R), AEBP1(NM_001129.5):c.560C>G (p.P187R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001029695" "0" "30" "7" "44147423" "44147423" "subst" "0.00014425" "03779" "AEBP1_000036" "g.44147423G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs200279382" "0" "" "" "" "" "likely benign" "" "0001029696" "0" "50" "7" "44150830" "44150830" "subst" "4.0291E-5" "03779" "AEBP1_000037" "g.44150830A>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs140411744" "0" "" "" "" "" "VUS" "" "0001036380" "0" "30" "7" "44150739" "44150739" "subst" "8.28759E-5" "02329" "POLD2_000018" "g.44150739C>T" "" "" "" "AEBP1(NM_001129.5):c.1631-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 AEBP1 ## Count = 54 "{{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}}" "{{VariantOnTranscript/Variant/Type}}" "{{VariantOnTranscript/Consequence/Predicted}}" "0000345611" "00025235" "50" "2974" "0" "2974" "0" "c.2974G>A" "r.(?)" "p.(Glu992Lys)" "" "" "" "0000369377" "00025235" "90" "917" "0" "917" "0" "c.917dup" "r.917dup" "p.Tyr306*" "6" "" "" "0000369378" "00025235" "90" "1470" "0" "1470" "0" "c.1470del" "r.[1470del;1485_1486ins1485+1_1486-1]" "p.Asn490_Met495delins(40)" "12" "deletion" "frameshift" "0000369380" "00025235" "90" "1320" "0" "1326" "0" "c.1320_1326del" "r.(?)" "p.(Arg440Serfs*3)" "11" "deletion" "frameshift" "0000369383" "00025235" "90" "1630" "1" "1630" "1" "c.1630+1G>A" "r.1609_1630del" "p.Val537Leufs*31" "13i" "substitution" "splicing affected" "0000369749" "00025235" "90" "1743" "0" "1743" "0" "c.1743C>A" "r.1743c>a" "p.Cys581*" "15" "substitution" "nonsense" "0000703359" "00025235" "77" "362" "0" "362" "0" "c.362dup" "r.?" "p.(Glu122Glyfs*16)" "2" "duplication" "frameshift" "0000703360" "00025235" "99" "443" "0" "443" "0" "c.443dup" "r.?" "p.(Ala149Glyfs*57)" "2" "duplication" "frameshift" "0000703361" "00025235" "99" "917" "0" "917" "0" "c.917dup" "r.?" "p.(Tyr306*)" "6" "substitution" "nonsense" "0000703362" "00025235" "99" "1149" "0" "1150" "2" "c.1149_1150+2del" "r.spl" "p.?" "9" "deletion" "deletion" "0000703363" "00025235" "99" "1925" "0" "1925" "0" "c.1925T>C" "r.?" "p.(Leu642Pro)" "16" "substitution" "missense" "0000721457" "00025235" "30" "1014" "0" "1014" "0" "c.1014G>A" "r.(?)" "p.(Glu338=)" "" "" "" "0000721458" "00025235" "30" "1018" "4" "1018" "7" "c.1018+4_1018+7del" "r.spl?" "p.?" "" "" "" "0000721459" "00025235" "30" "3091" "0" "3091" "0" "c.3091G>A" "r.(?)" "p.(Ala1031Thr)" "" "" "" "0000721460" "00025235" "50" "3101" "0" "3101" "0" "c.3101G>A" "r.(?)" "p.(Arg1034Gln)" "" "" "" "0000721461" "00025235" "30" "3118" "0" "3118" "0" "c.3118G>A" "r.(?)" "p.(Ala1040Thr)" "" "" "" "0000803154" "00025235" "30" "216" "0" "216" "0" "c.216G>C" "r.(?)" "p.(Gly72=)" "" "" "" "0000803155" "00025235" "30" "1018" "4" "1018" "7" "c.1018+4_1018+7del" "r.spl?" "p.?" "" "" "" "0000803156" "00025235" "30" "1150" "9" "1150" "9" "c.1150+9G>A" "r.(=)" "p.(=)" "" "" "" "0000851618" "00025235" "30" "560" "0" "560" "0" "c.560C>G" "r.(?)" "p.(Pro187Arg)" "" "" "" "0000851619" "00025235" "10" "1151" "-11" "1151" "-11" "c.1151-11C>T" "r.(=)" "p.(=)" "" "" "" "0000851620" "00025235" "10" "1330" "0" "1330" "0" "c.1330A>T" "r.(?)" "p.(Ile444Leu)" "" "" "" "0000851621" "00025235" "10" "1486" "-8" "1486" "-8" "c.1486-8C>G" "r.(=)" "p.(=)" "" "" "" "0000860788" "00025235" "10" "21" "0" "21" "0" "c.21G>A" "r.(?)" "p.(Ala7=)" "" "" "" "0000860789" "00025235" "50" "267" "0" "267" "0" "c.267G>C" "r.(?)" "p.(Lys89Asn)" "" "" "" "0000860790" "00025235" "10" "599" "0" "599" "0" "c.599C>T" "r.(?)" "p.(Ala200Val)" "" "" "" "0000860791" "00025235" "30" "895" "0" "895" "0" "c.895C>T" "r.(?)" "p.(Pro299Ser)" "" "" "" "0000860792" "00025235" "30" "1060" "0" "1060" "0" "c.1060G>A" "r.(?)" "p.(Asp354Asn)" "" "" "" "0000860793" "00025235" "30" "1151" "-8" "1151" "-8" "c.1151-8G>A" "r.(=)" "p.(=)" "" "" "" "0000860794" "00025235" "30" "1358" "0" "1358" "0" "c.1358G>A" "r.(?)" "p.(Arg453Gln)" "" "" "" "0000860795" "00025235" "50" "1855" "0" "1855" "0" "c.1855C>T" "r.(?)" "p.(Arg619Cys)" "" "" "" "0000872432" "00025235" "90" "362" "0" "362" "0" "c.362dup" "r.(?)" "p.(Glu122GlyfsTer16)" "" "" "" "0000872433" "00025235" "90" "443" "0" "443" "0" "c.443dup" "r.(?)" "p.(Ala149GlyfsTer57)" "" "" "" "0000872436" "00025235" "90" "1149" "0" "1150" "2" "c.1149_1150+2del" "r.spl" "p.?" "" "" "" "0000887893" "00025235" "10" "3091" "0" "3091" "0" "c.3091G>A" "r.(?)" "p.(Ala1031Thr)" "" "" "" "0000908845" "00025235" "90" "1894" "0" "1894" "0" "c.1894C>T" "r.(?)" "p.(Arg632*)" "" "substitution" "nonsense" "0000912758" "00025235" "30" "3100" "0" "3100" "0" "c.3100C>A" "r.(?)" "p.(Arg1034=)" "" "" "" "0000924719" "00025235" "10" "2037" "17" "2037" "17" "c.2037+17G>A" "r.(=)" "p.(=)" "" "" "" "0000948912" "00025235" "30" "3156" "0" "3156" "0" "c.3156G>C" "r.(?)" "p.(=)" "" "" "" "0000964595" "00025235" "30" "595" "224" "595" "224" "c.595+224A>G" "r.(=)" "p.(=)" "" "" "" "0000977710" "00025235" "30" "237" "0" "237" "0" "c.237A>G" "r.(?)" "p.(=)" "" "" "" "0000977711" "00025235" "30" "1150" "171" "1150" "171" "c.1150+171C>G" "r.(=)" "p.(=)" "" "" "" "0000977712" "00025235" "30" "2809" "99" "2809" "99" "c.2809+99G>C" "r.(=)" "p.(=)" "" "" "" "0000996522" "00025235" "30" "574" "0" "574" "0" "c.574G>A" "r.(?)" "p.(Glu192Lys)" "" "" "" "0000996523" "00025235" "50" "1051" "0" "1051" "0" "c.1051G>A" "r.(?)" "p.(Glu351Lys)" "" "" "" "0000996524" "00025235" "30" "2392" "0" "2392" "0" "c.2392G>A" "r.(?)" "p.(Asp798Asn)" "" "" "" "0000996525" "00025235" "30" "3044" "0" "3044" "0" "c.3044A>T" "r.(?)" "p.(Gln1015Leu)" "" "" "" "0000996526" "00025235" "50" "6425" "0" "6425" "0" "c.*2948C>T" "r.(=)" "p.(=)" "" "" "" "0001014355" "00025235" "10" "1151" "-10" "1151" "-10" "c.1151-10G>A" "r.(=)" "p.(=)" "" "" "" "0001016408" "00025235" "79" "2923" "0" "2923" "0" "c.2923del" "r.(?)" "p.(Ala975Profs*22)" "" "deletion" "frameshift" "0001025395" "00025235" "30" "560" "0" "560" "0" "c.560C>G" "r.(?)" "p.(Pro187Arg)" "" "" "" "0001029695" "00025235" "30" "755" "0" "755" "0" "c.755G>A" "r.(?)" "p.(Arg252His)" "" "" "" "0001029696" "00025235" "50" "1708" "0" "1708" "0" "c.1708A>G" "r.(?)" "p.(Met570Val)" "" "" "" "0001036380" "00025235" "30" "1631" "-14" "1631" "-14" "c.1631-14C>T" "r.(=)" "p.(=)" "" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{variantid}}" "0000165642" "0000369377" "0000165643" "0000369378" "0000165643" "0000369749" "0000165645" "0000369380" "0000165648" "0000369383" "0000320639" "0000703359" "0000320640" "0000703360" "0000320640" "0000703362" "0000320641" "0000703361" "0000320642" "0000703363" "0000414727" "0000872432" "0000414728" "0000872433" "0000414728" "0000872436" "0000429376" "0000908845" "0000458840" "0001016408"