### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = KBTBD13)
# 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}}"
"KBTBD13" "kelch repeat and BTB (POZ) domain containing 13" "15" "q22.31" "unknown" "NG_021411.1" "UD_132085365103" "" "https://www.LOVD.nl/KBTBD13" "" "1" "37227" "390594" "613727" "1" "1" "1" "1" "This database is one of the gene variant databases from the:![](\"docs/LOVD_LMDp-logo.png\")
" "" "g" "https://databases.lovd.nl/shared/refseq/KBTBD13_NM_001101362.2_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00001" "2010-12-11 00:00:00" "00006" "2018-11-11 19:24:39" "00000" "2025-05-05 21:14:00"
## 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}}"
"00010323" "KBTBD13" "kelch repeat and BTB (POZ) domain containing 13" "001" "NM_001101362.2" "" "NP_001094832.1" "" "" "" "1" "3123" "1377" "65369154" "65372276" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 9
"{{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"
"00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31"
"02439" "RSMD" "dystrophy, muscular, rigid spine (RSMD)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-01-23 21:52:45"
"02838" "NEM6" "myopathy, nemaline, type 6 (NEM-6)" "AD" "609273" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"04164" "NEM" "myopathy, nemaline (NEM)" "" "" "" "" "" "00006" "2014-12-22 16:43:09" "00006" "2018-07-06 19:02:59"
"05106" "MPD" "myopathy, distal (MPD)" "" "" "" "" "" "00006" "2015-12-08 01:43:19" "" ""
"05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" ""
"05324" "DMD" "dystrophy, muscular, Duchenne type (DMD)" "XLR" "310200" "" "" "" "00006" "2017-09-01 17:41:21" "00006" "2021-12-10 21:51:32"
"05618" "NMD" "neuromuscular disorder (NMD)" "" "" "" "" "" "00006" "2019-07-02 19:46:12" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"KBTBD13" "02838"
## Individuals ## Do not remove or alter this header ##
## Count = 24
"{{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}}"
"00035980" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00035981" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00035982" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00035983" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00035984" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00205841" "" "" "" "1" "" "00464" "" "" "F" "" "United States" "" "0" "" "" "" ""
"00205842" "" "" "" "4" "" "00568" "{PMID:Sambuughin 2010:21109227}, {OMIM613727:0002}" "4-generation family, 4 affecteds" "" "" "Australia" "" "0" "" "" "Belgium" ""
"00205843" "" "" "" "15" "" "00568" "{PMID:Sambuughin 2010:21109227}, {OMIM613727:0002}" "5-generation family, 15 affecteds" "" "" "Australia" "" "0" "" "" "Netherlands" ""
"00205844" "" "" "" "28" "" "00568" "{PMID:Gommans 2003:12805120}" "5-generation family, 28 affecteds" "" "" "Netherlands" "" "0" "" "" "" ""
"00205845" "" "" "" "5" "" "00568" "Olive M&N, in press" "3-generation family, 5 affecteds" "" "" "Spain" "" "0" "" "" "" ""
"00205846" "" "" "" "1" "" "00568" "{PMID:Sambuughin 2010:21109227}, {OMIM613727:0003}" "" "" "" "Australia" "" "0" "" "" "" ""
"00207808" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" ""
"00208841" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" ""
"00218358" "" "" "" "1" "" "00006" "{PMID:Saini 2018:29850975}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "India" "" "0" "" "" "" "29850975-Pat"
"00281788" "" "" "" "1" "" "03752" "{PMID:Sevy 2016:25783436}, {PMID:Cerino 2020:32934002}" "" "M" "" "France" "" "0" "" "" "" "Pat8"
"00295274" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00295416" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00305748" "" "" "" "1" "" "00006" "{PMID:Yu 2017:28403181}" "analysis 180 LGMD patients" "F" "" "China" "" "0" "" "" "" "P16"
"00374772" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-1480"
"00391948" "" "" "" "1" "" "03501" "{PMID:Karthikeyan 2024:39548682}" "" "M" "" "India" "" "0" "yes" "" "" "MDCRC/0308/B-374"
"00442670" "" "" "" "3" "" "00006" "{PMID:Westra 2019:31127727}" "family, affected mother/daughter/sib" "F" "" "" "" "0" "" "" "" "Pat42"
"00442754" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "M" "" "" "" "0" "" "" "" "Pat126"
"00442774" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "M" "" "" "" "0" "" "" "" "Pat146"
"00442786" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "M" "" "" "" "0" "" "" "" "Pat158"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 22
"{{individualid}}" "{{diseaseid}}"
"00035980" "00198"
"00035981" "00198"
"00035982" "00198"
"00035983" "00198"
"00035984" "00198"
"00205841" "00244"
"00205842" "04164"
"00205843" "04164"
"00205844" "04164"
"00205845" "04164"
"00205846" "04164"
"00218358" "02439"
"00281788" "05106"
"00295274" "00198"
"00295416" "00198"
"00305748" "05126"
"00374772" "00198"
"00391948" "05324"
"00442670" "05618"
"00442754" "05618"
"00442774" "05618"
"00442786" "05618"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 00244, 02439, 02838, 04164, 05106, 05126, 05324, 05618
## Count = 22
"{{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}}"
"0000153997" "00244" "00205841" "00464" "Unknown" "" "scoliosis, cores in muscle biopsy" "" "" "" "" "" "" "" "" "" "myopathy, congenital" ""
"0000153998" "04164" "00205842" "00568" "Familial, autosomal dominant" "" "EM rods and cores, progression variable, muscle weakness proximal greater then distal (neck some), no cardiac abnormalities" "" "" "unable to skip or jump" "" "" "" "" "" "NEM-6" "nemaline myopathy" ""
"0000153999" "04164" "00205843" "00568" "Familial, autosomal dominant" "" "EM rods and cores, slow progression (diabling>50y), muscle weakness neck/proximal, no cardiac abnormalities" "" "" "unable to run or jump, difficulty climbing stairs" "" "" "" "" "" "NEM-6" "nemaline myopathy" ""
"0000154000" "04164" "00205844" "00568" "Familial, autosomal dominant" "" "EM rods and cores, slow progression, muscle weakness neck/proximal, no cardiac abnormalities" "" "" "unable to run or jump, difficulty climbing stairs" "" "" "" "" "" "NEM-6" "nemaline myopathy" ""
"0000154001" "04164" "00205845" "00568" "Familial, autosomal dominant" "" "EM rods and cores, slow progression (diabling>30y), muscle weakness proximal/distal (neck 2x), no cardiac abnormalities" "" "" "unable to run or jump, difficulty climbing stairs" "" "" "" "" "" "NEM-6" "nemaline myopathy" ""
"0000154002" "04164" "00205846" "00568" "Isolated (sporadic)" "" "EM rods and cores" "" "" "" "" "" "" "" "" "NEM-6" "nemaline myopathy" ""
"0000155590" "00198" "00207808" "01164" "Unknown" "" "HP:0100022 (Abnormality of movement); HP:0012638 (Abnormality of nervous system physiology); HP:0001337 (Tremor); HP:0002169 (Clonus); HP:0040081 (Abnormal levels of creatine kinase in blood)" "" "" "" "" "" "" "" "" "" "" ""
"0000156323" "00198" "00035980" "01164" "Unknown" "" "suspected Strukturmyopathie DD CMS" "" "" "" "" "" "" "" "" "" "myoapthy?" ""
"0000156324" "00198" "00035981" "01164" "Unknown" "" "suspected Strukturmyopathie DD CMS" "" "" "" "" "" "" "" "" "" "myoapthy?" ""
"0000156325" "00198" "00035982" "01164" "Unknown" "" "suspected Strukturmyopathie DD CMS" "" "" "" "" "" "" "" "" "" "myoapthy?" ""
"0000156326" "00198" "00035983" "01164" "Unknown" "" "suspected Strukturmyopathie DD CMS" "" "" "" "" "" "" "" "" "" "myoapthy?" ""
"0000156327" "00198" "00035984" "01164" "Unknown" "" "suspected Strukturmyopathie DD CMS" "" "" "" "" "" "" "" "" "" "myoapthy?" ""
"0000157450" "00198" "00208841" "01164" "Unknown" "" "HP:0002015 (Dysphagia); HP:0000651 (Diplopia); HP:0012638 (Abnormality of nervous system physiology); HP:0001608 (Abnormality of the voice); HP:0003011 (Abnormality of the musculature); HP:0410011 (Abnormality of masticatory muscle); HP:0000504 (Abnormality of vision); HP:0012373 (Abnormal eye physiology); HP:0001611 (Nasal speech); HP:0003124 (Hypercholesterolemia); HP:0001939 (Abnormality of metabolism/homeostasis); HP:0000508 (Ptosis)" "" "" "" "" "" "" "" "" "" "" ""
"0000166801" "02439" "00218358" "00006" "Familial, autosomal recessive" "07y" "see paper; delay attainment motor\r\nmilestones since early infancy, reduced muscle bulk, neck stiffness with restriction neck flexion movements, rigid spine, proximal limb-girdle and intercostal weakness, hyperlaxity metacarpophalangeal joints, bilateral shoulder and ankle contractures, with diminished muscle stretch reflexes" "" "" "low-grade fever, cough followed by shallow breathing efforts and decline in sensorium" "" "" "" "" "" "RSMD-1" "collagen VI associated muscular dystrophy" ""
"0000216369" "05106" "00281788" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "distal myopathy" ""
"0000231594" "05126" "00305748" "00006" "Unknown" "18y" "mild (MRC grade ≥4/5); lower limbs more severe than upper limbs; myalgia; elevated serum CK (max. 5065 IU/L); biopsy myopathic; non-rimmed vacuole; inflammation" "17y" "" "" "IHC DYSF absent/reduced " "" "" "" "" "" "limb-girdle muscular dystrophy" ""
"0000269982" "00198" "00374772" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" ""
"0000285238" "05324" "00391948" "03501" "Unknown" "6y" "delayed fine motor development (HP:0010862), calf muscle hypertrophy (HP:0008981)" "" "" "" "" "" "" "" "" "muscular dystrophy" "DMD" ""
"0000332017" "05618" "00442670" "00006" "Familial, autosomal dominant" "45y" "onset childhood; proximal limb-girdle weakness with respiratory dysfunction; muscle biopsy: increase in fiber size variation and presence of internal nuclei" "" "" "" "" "" "" "" "" "" "Myofibrillar myopathy" ""
"0000332101" "05618" "00442754" "00006" "Unknown" "" "Contractures, rigid spine, myopathy with rimmed vacuoles" "" "" "" "" "" "" "" "" "" "contractures" ""
"0000332121" "05618" "00442774" "00006" "Unknown" "" "Distal muscle weakness, autosomal dominant" "" "" "" "" "" "" "" "" "" "distal muscle weakness" ""
"0000332133" "05618" "00442786" "00006" "Unknown" "" "Congenital myopathy, autosomal dominant" "" "" "" "" "" "" "" "" "" "congenital myopathy" ""
## Screenings ## Do not remove or alter this header ##
## Count = 24
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000036050" "00035980" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036051" "00035981" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036052" "00035982" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036053" "00035983" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036054" "00035984" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000206870" "00205841" "1" "00464" "00006" "2014-10-02 23:00:23" "00006" "2014-10-11 13:40:27" "SEQ-NG" "DNA" "" ""
"0000206871" "00205842" "1" "00568" "00006" "2010-12-11 18:22:30" "00006" "2013-05-13 14:25:04" "SEQ" "DNA" "" ""
"0000206872" "00205843" "1" "00568" "00006" "2010-12-11 18:22:30" "00006" "2013-05-13 14:24:01" "SEQ" "DNA" "" ""
"0000206873" "00205844" "1" "00568" "00006" "2010-12-11 18:22:30" "00006" "2013-05-13 14:24:18" "SEQ" "DNA" "" ""
"0000206874" "00205845" "1" "00568" "00006" "2010-12-11 18:22:30" "00006" "2013-05-13 14:27:22" "SEQ" "DNA" "" ""
"0000206875" "00205846" "1" "00568" "00006" "2010-12-11 18:22:30" "00006" "2013-05-13 14:28:29" "SEQ" "DNA" "" ""
"0000208850" "00207808" "1" "01164" "01164" "2018-11-30 14:57:25" "" "" "SEQ-NG" "DNA" "" ""
"0000209886" "00208841" "1" "01164" "01164" "2018-12-18 12:12:00" "" "" "SEQ-NG" "DNA" "" ""
"0000219428" "00218358" "1" "00006" "00006" "2019-01-23 22:01:51" "" "" "SEQ;SEQ-NG" "DNA" "" "muscle gene panel"
"0000282934" "00281788" "1" "00006" "00006" "2020-02-02 16:37:05" "" "" "SEQ;SEQ-NG" "DNA" "" "298 gene panel neuromuscular disease"
"0000296442" "00295274" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000296584" "00295416" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000306878" "00305748" "1" "00006" "00006" "2020-07-02 12:45:49" "" "" "SEQ;SEQ-NG" "DNA" "" "candidate 420-gene panel"
"0000375966" "00374772" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel"
"0000393190" "00391948" "1" "03501" "00006" "2021-11-19 15:49:45" "" "" "SEQ-NG" "DNA" "" "screened DMD, COL6A1, KBTBD13, SGCB, COL6A2, COL6A3, CAPN3, DYSF, FLNC, LAMA2, SGCA, SGCD, SGCG, PLEC, SYNE1"
"0000444154" "00442670" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000444238" "00442754" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ-NG" "DNA" "" "WES"
"0000444258" "00442774" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ-NG" "DNA" "" "WES"
"0000444270" "00442786" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ-NG" "DNA" "" "WES"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 15
"{{screeningid}}" "{{geneid}}"
"0000036050" "KBTBD13"
"0000036051" "KBTBD13"
"0000036052" "KBTBD13"
"0000036053" "KBTBD13"
"0000036054" "KBTBD13"
"0000206870" "KBTBD13"
"0000206871" "KBTBD13"
"0000206872" "KBTBD13"
"0000206873" "KBTBD13"
"0000206874" "KBTBD13"
"0000206875" "KBTBD13"
"0000219428" "SEPN1"
"0000282934" "KBTBD13"
"0000306878" "KBTBD13"
"0000375966" "KBTBD13"
## 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 = 90
"{{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}}"
"0000063175" "1" "10" "15" "65369951" "65369951" "subst" "0.873676" "01164" "KBTBD13_000004" "g.65369951A>G" "" "" "" "" "" "Germline" "" "rs2919359" "0" "" "" "g.65077613A>G" "" "benign" ""
"0000063176" "1" "10" "15" "65370652" "65370652" "subst" "0" "01164" "KBTBD13_000014" "g.65370652T>C" "" "" "" "" "" "Germline" "" "rs12901617" "0" "" "" "g.65078314T>C" "" "benign" ""
"0000063177" "1" "10" "15" "65369395" "65369395" "subst" "0.449252" "01164" "KBTBD13_000006" "g.65369395C>T" "" "" "" "" "" "Germline" "" "rs2919358" "0" "" "" "g.65077057C>T" "" "benign" ""
"0000063178" "1" "10" "15" "65370353" "65370353" "subst" "0.995928" "01164" "KBTBD13_000005" "g.65370353T>C" "" "" "" "" "" "Germline" "" "rs2919360" "0" "" "" "g.65078015T>C" "" "benign" ""
"0000063179" "1" "10" "15" "65369531" "65369531" "subst" "0.464263" "01164" "KBTBD13_000007" "g.65369531G>T" "" "" "" "" "" "Germline" "" "rs2946642" "0" "" "" "g.65077193G>T" "" "benign" ""
"0000248673" "0" "10" "15" "65369951" "65369951" "subst" "0.873676" "02325" "KBTBD13_000004" "g.65369951A>G" "" "" "" "KBTBD13(NM_001101362.3):c.798A>G (p.E266=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65077613A>G" "" "benign" ""
"0000251159" "0" "10" "15" "65370516" "65370516" "subst" "0.00123782" "02326" "KBTBD13_000023" "g.65370516A>G" "" "" "" "KBTBD13(NM_001101362.2):c.1363A>G (p.T455A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65078178A>G" "" "benign" ""
"0000281704" "0" "10" "15" "65370353" "65370353" "subst" "0.995928" "02325" "KBTBD13_000005" "g.65370353T>C" "" "" "" "KBTBD13(NM_001101362.3):c.1200T>C (p.G400=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65078015T>C" "" "benign" ""
"0000285464" "0" "50" "15" "65370260" "65370260" "subst" "1.66888E-5" "02326" "KBTBD13_000022" "g.65370260C>G" "" "" "" "KBTBD13(NM_001101362.2):c.1107C>G (p.I369M), KBTBD13(NM_001101362.3):c.1107C>G (p.I369M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65077922C>G" "" "VUS" ""
"0000285465" "0" "10" "15" "65369395" "65369395" "subst" "0.449252" "02326" "KBTBD13_000006" "g.65369395C>T" "" "" "" "KBTBD13(NM_001101362.2):c.242C>T (p.A81V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65077057C>T" "" "benign" ""
"0000285466" "0" "50" "15" "65369404" "65369404" "subst" "3.51667E-5" "02326" "KBTBD13_000018" "g.65369404G>C" "" "" "" "KBTBD13(NM_001101362.2):c.251G>C (p.C84S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65077066G>C" "" "VUS" ""
"0000285467" "0" "10" "15" "65369514" "65369514" "subst" "0.0018387" "02326" "KBTBD13_000019" "g.65369514G>A" "" "" "" "KBTBD13(NM_001101362.2):c.361G>A (p.V121M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65077176G>A" "" "benign" ""
"0000285468" "0" "10" "15" "65369531" "65369531" "subst" "0.464263" "02326" "KBTBD13_000007" "g.65369531G>T" "" "" "" "KBTBD13(NM_001101362.2):c.378G>T (p.A126=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65077193G>T" "" "benign" ""
"0000285469" "0" "10" "15" "65370107" "65370107" "subst" "0.00547783" "02326" "KBTBD13_000021" "g.65370107C>G" "" "" "" "KBTBD13(NM_001101362.2):c.954C>G (p.T318=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65077769C>G" "" "benign" ""
"0000290017" "0" "30" "15" "65369307" "65369307" "subst" "0" "01943" "KBTBD13_000017" "g.65369307G>A" "" "" "" "KBTBD13(NM_001101362.2):c.154G>A (p.V52I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65076969G>A" "" "likely benign" ""
"0000290018" "0" "30" "15" "65369196" "65369196" "subst" "0" "01943" "KBTBD13_000016" "g.65369196G>A" "" "" "" "KBTBD13(NM_001101362.2):c.43G>A (p.G15S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65076858G>A" "" "likely benign" ""
"0000290019" "0" "30" "15" "65369664" "65369664" "subst" "0" "01943" "KBTBD13_000020" "g.65369664G>C" "" "" "" "KBTBD13(NM_001101362.2):c.511G>C (p.E171Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65077326G>C" "" "likely benign" ""
"0000340362" "0" "10" "15" "65369531" "65369531" "subst" "0.464263" "02327" "KBTBD13_000007" "g.65369531G>T" "" "" "" "KBTBD13(NM_001101362.2):c.378G>T (p.A126=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65077193G>T" "" "benign" ""
"0000340363" "0" "10" "15" "65369951" "65369951" "subst" "0.873676" "02327" "KBTBD13_000004" "g.65369951A>G" "" "" "" "KBTBD13(NM_001101362.3):c.798A>G (p.E266=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65077613A>G" "" "benign" ""
"0000340364" "0" "10" "15" "65370353" "65370353" "subst" "0.995928" "02327" "KBTBD13_000005" "g.65370353T>C" "" "" "" "KBTBD13(NM_001101362.3):c.1200T>C (p.G400=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65078015T>C" "" "benign" ""
"0000341602" "0" "10" "15" "65369395" "65369395" "subst" "0.449252" "02327" "KBTBD13_000006" "g.65369395C>T" "" "" "" "KBTBD13(NM_001101362.2):c.242C>T (p.A81V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65077057C>T" "" "benign" ""
"0000342407" "0" "30" "15" "65369895" "65369895" "subst" "0.000422422" "02327" "KBTBD13_000025" "g.65369895C>T" "" "" "" "KBTBD13(NM_001101362.2):c.742C>T (p.R248C), KBTBD13(NM_001101362.3):c.742C>T (p.(Arg248Cys), p.R248C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65077557C>T" "" "likely benign" ""
"0000342842" "0" "90" "15" "65370375" "65370375" "subst" "0" "02327" "KBTBD13_000001" "g.65370375C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65078037C>T" "" "pathogenic" ""
"0000347553" "0" "50" "15" "65370323" "65370323" "subst" "0" "02327" "KBTBD13_000002" "g.65370323G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65077985G>C" "" "VUS" ""
"0000349922" "0" "70" "15" "65369597" "65369597" "subst" "0" "02327" "KBTBD13_000024" "g.65369597C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65077259C>G" "" "likely pathogenic" ""
"0000436503" "0" "50" "15" "65369211" "65369211" "subst" "3.50926E-5" "00464" "KBTBD13_000009" "g.65369211G>C" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.65076873G>C" "" "VUS" ""
"0000436504" "1" "90" "15" "65370375" "65370375" "subst" "0" "00568" "KBTBD13_000001" "g.65370375C>T" "" "{PMID:Sambuughin 2010:21109227}, {OMIM613727:0002}" "" "" "mapped by linkage, shared haplotype 1.7 Mb; not 532 in control chromosomes" "Germline" "yes" "" "0" "" "" "g.65078037C>T" "" "pathogenic (dominant)" ""
"0000436505" "1" "90" "15" "65370375" "65370375" "subst" "0" "00568" "KBTBD13_000001" "g.65370375C>T" "" "{PMID:Sambuughin 2010:21109227}, {OMIM613727:0002}" "" "" "mapped by linkage, shared haplotype 1.7 Mb; not 532 in control chromosomes" "Germline" "yes" "" "0" "" "" "g.65078037C>T" "" "pathogenic (dominant)" ""
"0000436506" "1" "90" "15" "65370375" "65370375" "subst" "0" "00568" "KBTBD13_000001" "g.65370375C>T" "" "{PMID:Sambuughin 2010:21109227}, {PMID:Gommans 2003:12805120}, {OMIM613727:0002}" "" "" "mapped by linkage, shared haplotype 1.7 Mb; not 532 in control chromosomes" "Germline" "yes" "" "0" "" "" "g.65078037C>T" "" "pathogenic (dominant)" ""
"0000436507" "1" "90" "15" "65370323" "65370323" "subst" "0" "00568" "KBTBD13_000002" "g.65370323G>C" "" "{PMID:Sambuughin 2010:21109227}, {OMIM613727:0001}" "" "" "mapped by linkage; not 532 in control chromosomes" "Germline" "yes" "" "0" "" "" "g.65077985G>C" "" "pathogenic (dominant)" ""
"0000436508" "1" "90" "15" "65369895" "65369895" "subst" "1.34102E-5" "00568" "KBTBD13_000003" "g.65369895C>A" "" "{PMID:Sambuughin 2010:21109227}, {OMIM613727:0003}" "" "" "not in 400 control chromosomes" "Germline" "" "" "0" "" "" "g.65077557C>A" "" "pathogenic" ""
"0000436509" "0" "50" "15" "65369951" "65369951" "subst" "0.873676" "00006" "KBTBD13_000004" "g.65369951A>G" "0.50-1.00" "" "" "" "" "Germline" "" "rs2919360" "0" "" "" "g.65077613A>G" "" "VUS" ""
"0000436510" "0" "50" "15" "65370353" "65370353" "subst" "0.995928" "00006" "KBTBD13_000005" "g.65370353T>C" "" "" "" "" "" "Germline" "" "rs2919359" "0" "" "" "g.65078015T>C" "" "VUS" ""
"0000436511" "0" "50" "15" "65369395" "65369395" "subst" "0.449252" "00006" "KBTBD13_000006" "g.65369395C>T" "0.31-0.50" "" "" "" "" "Germline" "" "rs2919358" "0" "" "" "g.65077057C>T" "" "VUS" ""
"0000436512" "0" "50" "15" "65369531" "65369531" "subst" "0.464263" "00006" "KBTBD13_000007" "g.65369531G>T" "0.50" "" "" "" "" "Germline" "" "rs2946642" "0" "" "" "g.65077193G>T" "" "VUS" ""
"0000436513" "0" "50" "15" "65370835" "65370835" "subst" "0" "00006" "KBTBD13_000008" "g.65370835C>T" "0.50-1.00" "" "" "" "" "Germline" "" "rs2946643" "0" "" "" "g.65078497C>T" "" "VUS" ""
"0000436514" "0" "30" "15" "65370375" "65370375" "subst" "0" "00568" "KBTBD13_000001" "g.65370375C>T" "" "{PMID:Sambuughin 2010:21109227}, {PMID:Gommans 2003:12805120}" "" "" "expression cloining inC2C12, mouse cardiomyocytes, no abnormalities obeserved" "In vitro (cloned)" "" "" "0" "" "" "g.65078037C>T" "" "NA" ""
"0000438848" "0" "50" "15" "65369652" "65369652" "subst" "0" "01164" "KBTBD13_000026" "g.65369652C>G" "" "" "" "" "" "Germline" "" "rs749520412" "0" "" "" "g.65077314C>G" "" "VUS" "ACMG"
"0000440126" "0" "50" "15" "65369176" "65369176" "subst" "0" "01164" "KBTBD13_000027" "g.65369176T>C" "" "" "" "" "" "Germline" "" "rs755992942" "0" "" "" "g.65076838T>C" "" "VUS" "ACMG"
"0000454279" "11" "50" "15" "65369293" "65369293" "subst" "2.00425E-5" "00006" "KBTBD13_000028" "g.65369293A>G" "" "{PMID:Saini 2018:29850975}" "" "" "" "Germline" "" "" "0" "" "" "g.65076955A>G" "" "VUS" ""
"0000555143" "0" "30" "15" "65369242" "65369242" "subst" "0.00581769" "01804" "KBTBD13_000029" "g.65369242G>A" "" "" "" "KBTBD13(NM_001101362.2):c.89G>A (p.(Gly30Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65076904G>A" "" "likely benign" ""
"0000555144" "0" "30" "15" "65369316" "65369316" "subst" "0.000926964" "01804" "KBTBD13_000030" "g.65369316G>A" "" "" "" "KBTBD13(NM_001101362.2):c.163G>A (p.(Ala55Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65076978G>A" "" "likely benign" ""
"0000555146" "0" "50" "15" "65369624" "65369624" "subst" "0" "02327" "KBTBD13_000031" "g.65369624C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65077286C>G" "" "VUS" ""
"0000555147" "0" "50" "15" "65369714" "65369714" "subst" "8.43412E-6" "01943" "KBTBD13_000032" "g.65369714G>A" "" "" "" "KBTBD13(NM_001101362.2):c.561G>A (p.W187*, p.(Trp187*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65077376G>A" "" "VUS" ""
"0000555149" "0" "50" "15" "65369936" "65369936" "subst" "0" "02327" "KBTBD13_000033" "g.65369936C>A" "" "" "" "KBTBD13(NM_001101362.2):c.783C>A (p.(Tyr261*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65077598C>A" "" "VUS" ""
"0000555150" "0" "30" "15" "65369947" "65369947" "subst" "0.00818037" "01804" "KBTBD13_000034" "g.65369947G>A" "" "" "" "KBTBD13(NM_001101362.2):c.794G>A (p.(Gly265Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65077609G>A" "" "likely benign" ""
"0000555151" "0" "50" "15" "65370375" "65370375" "subst" "0" "02327" "KBTBD13_000035" "g.65370375C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65078037C>A" "" "VUS" ""
"0000615441" "0" "30" "15" "65369400" "65369400" "subst" "0.000106959" "02327" "KBTBD13_000036" "g.65369400G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65077062G>C" "" "likely benign" ""
"0000615442" "0" "30" "15" "65369770" "65369770" "subst" "0" "02326" "KBTBD13_000037" "g.65369770C>T" "" "" "" "KBTBD13(NM_001101362.2):c.617C>T (p.T206M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65077432C>T" "" "likely benign" ""
"0000615445" "0" "50" "15" "65370166" "65370166" "subst" "0" "02327" "KBTBD13_000039" "g.65370166G>A" "" "" "" "KBTBD13(NM_001101362.2):c.1013G>A (p.R338H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65077828G>A" "" "VUS" ""
"0000638673" "0" "50" "15" "65369242" "65369242" "subst" "0.00581769" "03752" "KBTBD13_000029" "g.65369242G>A" "" "{PMID:Sevy 2016:25783436},{PMID:Cerino 2020:32934002}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.65076904G>A" "" "likely benign" ""
"0000653131" "1" "90" "15" "65369895" "65369895" "subst" "0.000422422" "03575" "KBTBD13_000025" "g.65369895C>T" "3/2762 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs200549195.1}" "Germline" "" "rs200549195" "0" "" "" "g.65077557C>T" "" "pathogenic" ""
"0000653273" "1" "90" "15" "65369895" "65369895" "subst" "1.34102E-5" "03575" "KBTBD13_000003" "g.65369895C>A" "1/2767 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs200549195}" "Germline" "" "rs200549195" "0" "" "" "g.65077557C>A" "" "pathogenic" ""
"0000670695" "1" "50" "15" "65369405" "65369405" "subst" "0" "00006" "KBTBD13_000042" "g.65369405C>A" "" "{PMID:Yu 2017:28403181}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.65077067C>A" "" "VUS" ""
"0000725247" "0" "30" "15" "65369315" "65369315" "subst" "0" "01943" "KBTBD13_000043" "g.65369315C>G" "" "" "" "KBTBD13(NM_001101362.2):c.162C>G (p.S54R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000725248" "0" "30" "15" "65369382" "65369382" "subst" "4.79102E-5" "02327" "KBTBD13_000044" "g.65369382G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000725249" "0" "50" "15" "65369404" "65369404" "subst" "3.51667E-5" "02329" "KBTBD13_000018" "g.65369404G>C" "" "" "" "KBTBD13(NM_001101362.2):c.251G>C (p.C84S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000725250" "0" "50" "15" "65369895" "65369895" "subst" "0.000422422" "02329" "KBTBD13_000025" "g.65369895C>T" "" "" "" "KBTBD13(NM_001101362.2):c.742C>T (p.R248C), KBTBD13(NM_001101362.3):c.742C>T (p.(Arg248Cys), p.R248C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000725251" "0" "30" "15" "65370166" "65370166" "subst" "0" "01943" "KBTBD13_000039" "g.65370166G>A" "" "" "" "KBTBD13(NM_001101362.2):c.1013G>A (p.R338H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000725252" "0" "30" "15" "65370251" "65370251" "subst" "4.17355E-6" "01943" "KBTBD13_000045" "g.65370251C>G" "" "" "" "KBTBD13(NM_001101362.2):c.1098C>G (p.H366Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000787317" "0" "50" "15" "65369325" "65369344" "del" "0" "00006" "KBTBD13_000046" "g.65369325_65369344del" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs778782105" "0" "" "" "g.65076987_65077006del" "" "VUS" ""
"0000823949" "0" "50" "15" "65370033" "65370033" "subst" "0.000231982" "03501" "KBTBD13_000047" "g.65370033C>G" "" "{PMID:Karthikeyan 2024:39548682}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.65077695C>G" "" "VUS" ""
"0000863932" "0" "30" "15" "65369341" "65369341" "subst" "0.000878094" "02326" "KBTBD13_000048" "g.65369341A>T" "" "" "" "KBTBD13(NM_001101362.2):c.188A>T (p.Q63L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000863933" "0" "30" "15" "65370111" "65370111" "subst" "0.000520805" "01943" "KBTBD13_000049" "g.65370111G>T" "" "" "" "KBTBD13(NM_001101362.2):c.958G>T (p.V320L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000892211" "0" "30" "15" "65369268" "65369268" "subst" "0.000472001" "01804" "KBTBD13_000050" "g.65369268G>C" "" "" "" "KBTBD13(NM_001101362.2):c.115G>C (p.(Gly39Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000914342" "0" "30" "15" "65369381" "65369381" "subst" "0.000215467" "01804" "KBTBD13_000051" "g.65369381C>G" "" "" "" "KBTBD13(NM_001101362.2):c.228C>G (p.(Asp76Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000914343" "0" "50" "15" "65369895" "65369895" "subst" "0.000422422" "02325" "KBTBD13_000025" "g.65369895C>T" "" "" "" "KBTBD13(NM_001101362.2):c.742C>T (p.R248C), KBTBD13(NM_001101362.3):c.742C>T (p.(Arg248Cys), p.R248C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000946011" "21" "90" "15" "65370323" "65370323" "subst" "0" "00006" "KBTBD13_000002" "g.65370323G>C" "" "{PMID:Westra 2019:31127727}" "" "" "" "Germline" "" "" "0" "" "" "g.65077985G>C" "" "pathogenic (dominant)" ""
"0000946095" "0" "50" "15" "65369895" "65369895" "subst" "0.000422422" "00006" "KBTBD13_000025" "g.65369895C>T" "" "{PMID:Westra 2019:31127727}" "" "" "no segregation analysis" "Germline/De novo (untested)" "" "" "0" "" "" "g.65077557C>T" "" "VUS" ""
"0000946126" "0" "50" "15" "65369400" "65369400" "subst" "0.000106959" "00006" "KBTBD13_000036" "g.65369400G>C" "" "{PMID:Westra 2019:31127727}" "" "" "present in affected daughter, other affected family members not tested" "Germline/De novo (untested)" "" "" "0" "" "" "g.65077062G>C" "" "VUS" ""
"0000946199" "0" "50" "15" "65370260" "65370260" "subst" "1.66888E-5" "00006" "KBTBD13_000022" "g.65370260C>G" "" "{PMID:Westra 2019:31127727}" "" "" "no segregation analysis" "Germline/De novo (untested)" "" "" "0" "" "" "g.65077922C>G" "" "VUS" ""
"0000981353" "0" "50" "15" "65369425" "65369430" "dup" "0" "01804" "KBTBD13_000053" "g.65369425_65369430dup" "" "" "" "KBTBD13(NM_001101362.3):c.272_277dup (p.(Pro91_Ala92dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000981354" "0" "50" "15" "65369494" "65369494" "subst" "1.86213E-5" "01804" "KBTBD13_000054" "g.65369494C>T" "" "" "" "KBTBD13(NM_001101362.3):c.341C>T (p.(Ala114Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000981355" "0" "50" "15" "65369511" "65369511" "subst" "0" "01804" "KBTBD13_000055" "g.65369511G>A" "" "" "" "KBTBD13(NM_001101362.3):c.358G>A (p.(Asp120Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000981356" "0" "50" "15" "65369622" "65369622" "subst" "0" "01804" "KBTBD13_000056" "g.65369622T>G" "" "" "" "KBTBD13(NM_001101362.3):c.469T>G (p.(Tyr157Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000981357" "0" "10" "15" "65370350" "65370350" "subst" "0.0107121" "01804" "KBTBD13_000057" "g.65370350C>T" "" "" "" "KBTBD13(NM_001101362.3):c.1197C>T (p.(Arg399=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0001001580" "0" "50" "15" "65369335" "65369335" "subst" "0" "01804" "KBTBD13_000058" "g.65369335C>T" "" "" "" "KBTBD13(NM_001101362.2):c.182C>T (p.(Thr61Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001001581" "0" "50" "15" "65369536" "65369536" "subst" "0" "01804" "KBTBD13_000059" "g.65369536T>G" "" "" "" "KBTBD13(NM_001101362.2):c.383T>G (p.(Phe128Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001001582" "0" "50" "15" "65369587" "65369587" "subst" "2.43368E-5" "01804" "KBTBD13_000060" "g.65369587C>G" "" "" "" "KBTBD13(NM_001101362.2):c.434C>G (p.(Ala145Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001001583" "0" "50" "15" "65369714" "65369714" "subst" "8.43412E-6" "01804" "KBTBD13_000032" "g.65369714G>A" "" "" "" "KBTBD13(NM_001101362.2):c.561G>A (p.W187*, p.(Trp187*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001001584" "0" "50" "15" "65369838" "65369838" "subst" "0" "01804" "KBTBD13_000061" "g.65369838T>C" "" "" "" "KBTBD13(NM_001101362.2):c.685T>C (p.(Phe229Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001001585" "0" "50" "15" "65369936" "65369936" "subst" "0" "01804" "KBTBD13_000033" "g.65369936C>A" "" "" "" "KBTBD13(NM_001101362.2):c.783C>A (p.(Tyr261*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001001586" "0" "30" "15" "65370388" "65370388" "subst" "0" "01804" "KBTBD13_000062" "g.65370388T>A" "" "" "" "KBTBD13(NM_001101362.2):c.1235T>A (p.(Leu412Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001001587" "0" "30" "15" "65370408" "65370408" "subst" "0" "01804" "KBTBD13_000063" "g.65370408G>A" "" "" "" "KBTBD13(NM_001101362.2):c.1255G>A (p.(Gly419Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001001588" "0" "30" "15" "65370417" "65370417" "subst" "6.47471E-5" "02325" "KBTBD13_000064" "g.65370417C>T" "" "" "" "KBTBD13(NM_001101362.3):c.1264C>T (p.R422W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001026481" "0" "50" "15" "65370260" "65370260" "subst" "1.66888E-5" "02325" "KBTBD13_000022" "g.65370260C>G" "" "" "" "KBTBD13(NM_001101362.2):c.1107C>G (p.I369M), KBTBD13(NM_001101362.3):c.1107C>G (p.I369M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001040503" "0" "50" "15" "65369598" "65369598" "subst" "0" "02325" "KBTBD13_000065" "g.65369598G>A" "" "" "" "KBTBD13(NM_001101362.3):c.445G>A (p.V149M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001040504" "0" "50" "15" "65369758" "65369758" "subst" "0" "01804" "KBTBD13_000066" "g.65369758C>A" "" "" "" "KBTBD13(NM_001101362.3):c.605C>A (p.(Ala202Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001040505" "0" "30" "15" "65369895" "65369895" "subst" "0.000422422" "01804" "KBTBD13_000025" "g.65369895C>T" "" "" "" "KBTBD13(NM_001101362.2):c.742C>T (p.R248C), KBTBD13(NM_001101362.3):c.742C>T (p.(Arg248Cys), p.R248C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001040506" "0" "10" "15" "65369922" "65369922" "subst" "0.000334154" "01804" "KBTBD13_000067" "g.65369922G>C" "" "" "" "KBTBD13(NM_001101362.3):c.769G>C (p.(Asp257His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 KBTBD13
## Count = 90
"{{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}}"
"0000063175" "00010323" "10" "798" "0" "798" "0" "c.798A>G" "r.(=)" "p.(=)" ""
"0000063176" "00010323" "10" "1499" "0" "1499" "0" "c.*122T>C" "r.(=)" "p.(=)" ""
"0000063177" "00010323" "10" "242" "0" "242" "0" "c.242C>T" "r.(?)" "p.(Ala81Val)" ""
"0000063178" "00010323" "10" "1200" "0" "1200" "0" "c.1200T>C" "r.(=)" "p.(=)" ""
"0000063179" "00010323" "10" "378" "0" "378" "0" "c.378G>T" "r.(=)" "p.(=)" ""
"0000248673" "00010323" "10" "798" "0" "798" "0" "c.798A>G" "r.(?)" "p.(Glu266=)" ""
"0000251159" "00010323" "10" "1363" "0" "1363" "0" "c.1363A>G" "r.(?)" "p.(Thr455Ala)" ""
"0000281704" "00010323" "10" "1200" "0" "1200" "0" "c.1200T>C" "r.(?)" "p.(Gly400=)" ""
"0000285464" "00010323" "50" "1107" "0" "1107" "0" "c.1107C>G" "r.(?)" "p.(Ile369Met)" ""
"0000285465" "00010323" "10" "242" "0" "242" "0" "c.242C>T" "r.(?)" "p.(Ala81Val)" ""
"0000285466" "00010323" "50" "251" "0" "251" "0" "c.251G>C" "r.(?)" "p.(Cys84Ser)" ""
"0000285467" "00010323" "10" "361" "0" "361" "0" "c.361G>A" "r.(?)" "p.(Val121Met)" ""
"0000285468" "00010323" "10" "378" "0" "378" "0" "c.378G>T" "r.(?)" "p.(Ala126=)" ""
"0000285469" "00010323" "10" "954" "0" "954" "0" "c.954C>G" "r.(?)" "p.(Thr318=)" ""
"0000290017" "00010323" "30" "154" "0" "154" "0" "c.154G>A" "r.(?)" "p.(Val52Ile)" ""
"0000290018" "00010323" "30" "43" "0" "43" "0" "c.43G>A" "r.(?)" "p.(Gly15Ser)" ""
"0000290019" "00010323" "30" "511" "0" "511" "0" "c.511G>C" "r.(?)" "p.(Glu171Gln)" ""
"0000340362" "00010323" "10" "378" "0" "378" "0" "c.378G>T" "r.(?)" "p.(Ala126=)" ""
"0000340363" "00010323" "10" "798" "0" "798" "0" "c.798A>G" "r.(?)" "p.(Glu266=)" ""
"0000340364" "00010323" "10" "1200" "0" "1200" "0" "c.1200T>C" "r.(?)" "p.(Gly400=)" ""
"0000341602" "00010323" "10" "242" "0" "242" "0" "c.242C>T" "r.(?)" "p.(Ala81Val)" ""
"0000342407" "00010323" "30" "742" "0" "742" "0" "c.742C>T" "r.(?)" "p.(Arg248Cys)" ""
"0000342842" "00010323" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Cys)" ""
"0000347553" "00010323" "50" "1170" "0" "1170" "0" "c.1170G>C" "r.(?)" "p.(Lys390Asn)" ""
"0000349922" "00010323" "70" "444" "0" "444" "0" "c.444C>G" "r.(?)" "p.(Tyr148Ter)" ""
"0000436503" "00010323" "50" "58" "0" "58" "0" "c.58G>C" "r.(?)" "p.(Ala20Pro)" "1"
"0000436504" "00010323" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Cys)" "1"
"0000436505" "00010323" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Cys)" "1"
"0000436506" "00010323" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Cys)" "1"
"0000436507" "00010323" "90" "1170" "0" "1170" "0" "c.1170G>C" "r.(?)" "p.(Lys390Asn)" "1"
"0000436508" "00010323" "90" "742" "0" "742" "0" "c.742C>A" "r.(?)" "p.(Arg248Ser)" "1"
"0000436509" "00010323" "50" "798" "0" "798" "0" "c.798A>G" "r.(?)" "p.(=)" "1"
"0000436510" "00010323" "50" "1200" "0" "1200" "0" "c.1200T>C" "r.(?)" "p.(=)" "1"
"0000436511" "00010323" "50" "242" "0" "242" "0" "c.242C>T" "r.(?)" "p.Ala81Val" "1"
"0000436512" "00010323" "50" "378" "0" "378" "0" "c.378G>T" "r.(?)" "p.(=)" "1"
"0000436513" "00010323" "50" "1682" "0" "1682" "0" "c.*305C>T" "r.(?)" "p.(=)" "1"
"0000436514" "00010323" "30" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Cys)" "1"
"0000438848" "00010323" "50" "499" "0" "499" "0" "c.499C>G" "r.(?)" "p.Pro167Ala" ""
"0000440126" "00010323" "50" "23" "0" "23" "0" "c.23T>C" "r.(?)" "p.Leu8Pro" ""
"0000454279" "00010323" "50" "140" "0" "140" "0" "c.140A>G" "r.(?)" "p.(Glu47Gly)" ""
"0000555143" "00010323" "30" "89" "0" "89" "0" "c.89G>A" "r.(?)" "p.(Gly30Asp)" ""
"0000555144" "00010323" "30" "163" "0" "163" "0" "c.163G>A" "r.(?)" "p.(Ala55Thr)" ""
"0000555146" "00010323" "50" "471" "0" "471" "0" "c.471C>G" "r.(?)" "p.(Tyr157Ter)" ""
"0000555147" "00010323" "50" "561" "0" "561" "0" "c.561G>A" "r.(?)" "p.(Trp187Ter)" ""
"0000555149" "00010323" "50" "783" "0" "783" "0" "c.783C>A" "r.(?)" "p.(Tyr261Ter)" ""
"0000555150" "00010323" "30" "794" "0" "794" "0" "c.794G>A" "r.(?)" "p.(Gly265Asp)" ""
"0000555151" "00010323" "50" "1222" "0" "1222" "0" "c.1222C>A" "r.(?)" "p.(Arg408Ser)" ""
"0000615441" "00010323" "30" "247" "0" "247" "0" "c.247G>C" "r.(?)" "p.(Glu83Gln)" ""
"0000615442" "00010323" "30" "617" "0" "617" "0" "c.617C>T" "r.(?)" "p.(Thr206Met)" ""
"0000615445" "00010323" "50" "1013" "0" "1013" "0" "c.1013G>A" "r.(?)" "p.(Arg338His)" ""
"0000638673" "00010323" "50" "89" "0" "89" "0" "c.89G>A" "r.(?)" "p.(Gly30Asp)" ""
"0000653131" "00010323" "90" "742" "0" "742" "0" "c.742C>T" "r.(?)" "p.(Arg248Cys)" ""
"0000653273" "00010323" "90" "742" "0" "742" "0" "c.742C>A" "r.(?)" "p.(Arg248Ser)" ""
"0000670695" "00010323" "50" "252" "0" "252" "0" "c.252C>A" "r.(?)" "p.(Cys84*)" ""
"0000725247" "00010323" "30" "162" "0" "162" "0" "c.162C>G" "r.(?)" "p.(Ser54Arg)" ""
"0000725248" "00010323" "30" "229" "0" "229" "0" "c.229G>C" "r.(?)" "p.(Glu77Gln)" ""
"0000725249" "00010323" "50" "251" "0" "251" "0" "c.251G>C" "r.(?)" "p.(Cys84Ser)" ""
"0000725250" "00010323" "50" "742" "0" "742" "0" "c.742C>T" "r.(?)" "p.(Arg248Cys)" ""
"0000725251" "00010323" "30" "1013" "0" "1013" "0" "c.1013G>A" "r.(?)" "p.(Arg338His)" ""
"0000725252" "00010323" "30" "1098" "0" "1098" "0" "c.1098C>G" "r.(?)" "p.(His366Gln)" ""
"0000787317" "00010323" "50" "172" "0" "191" "0" "c.172_191del" "r.(?)" "p.(Phe58AlafsTer80)" "1"
"0000823949" "00010323" "50" "880" "0" "880" "0" "c.880C>G" "r.(?)" "p.(Pro294Ala)" "1"
"0000863932" "00010323" "30" "188" "0" "188" "0" "c.188A>T" "r.(?)" "p.(Gln63Leu)" ""
"0000863933" "00010323" "30" "958" "0" "958" "0" "c.958G>T" "r.(?)" "p.(Val320Leu)" ""
"0000892211" "00010323" "30" "115" "0" "115" "0" "c.115G>C" "r.(?)" "p.(Gly39Arg)" ""
"0000914342" "00010323" "30" "228" "0" "228" "0" "c.228C>G" "r.(?)" "p.(Asp76Glu)" ""
"0000914343" "00010323" "50" "742" "0" "742" "0" "c.742C>T" "r.(?)" "p.(Arg248Cys)" ""
"0000946011" "00010323" "90" "1170" "0" "1170" "0" "c.1170G>C" "r.(?)" "p.(Lys390Asn)" ""
"0000946095" "00010323" "50" "742" "0" "742" "0" "c.742C>T" "r.(?)" "p.(Arg248Cys)" ""
"0000946126" "00010323" "50" "247" "0" "247" "0" "c.247G>C" "r.(?)" "p.(Glu83Gln)" ""
"0000946199" "00010323" "50" "1107" "0" "1107" "0" "c.1107C>G" "r.(?)" "p.(Ile369Met)" ""
"0000981353" "00010323" "50" "272" "0" "277" "0" "c.272_277dup" "r.(?)" "p.(Pro91_Ala92dup)" ""
"0000981354" "00010323" "50" "341" "0" "341" "0" "c.341C>T" "r.(?)" "p.(Ala114Val)" ""
"0000981355" "00010323" "50" "358" "0" "358" "0" "c.358G>A" "r.(?)" "p.(Asp120Asn)" ""
"0000981356" "00010323" "50" "469" "0" "469" "0" "c.469T>G" "r.(?)" "p.(Tyr157Asp)" ""
"0000981357" "00010323" "10" "1197" "0" "1197" "0" "c.1197C>T" "r.(?)" "p.(=)" ""
"0001001580" "00010323" "50" "182" "0" "182" "0" "c.182C>T" "r.(?)" "p.(Thr61Met)" ""
"0001001581" "00010323" "50" "383" "0" "383" "0" "c.383T>G" "r.(?)" "p.(Phe128Cys)" ""
"0001001582" "00010323" "50" "434" "0" "434" "0" "c.434C>G" "r.(?)" "p.(Ala145Gly)" ""
"0001001583" "00010323" "50" "561" "0" "561" "0" "c.561G>A" "r.(?)" "p.(Trp187Ter)" ""
"0001001584" "00010323" "50" "685" "0" "685" "0" "c.685T>C" "r.(?)" "p.(Phe229Leu)" ""
"0001001585" "00010323" "50" "783" "0" "783" "0" "c.783C>A" "r.(?)" "p.(Tyr261Ter)" ""
"0001001586" "00010323" "30" "1235" "0" "1235" "0" "c.1235T>A" "r.(?)" "p.(Leu412Gln)" ""
"0001001587" "00010323" "30" "1255" "0" "1255" "0" "c.1255G>A" "r.(?)" "p.(Gly419Ser)" ""
"0001001588" "00010323" "30" "1264" "0" "1264" "0" "c.1264C>T" "r.(?)" "p.(Arg422Trp)" ""
"0001026481" "00010323" "50" "1107" "0" "1107" "0" "c.1107C>G" "r.(?)" "p.(Ile369Met)" ""
"0001040503" "00010323" "50" "445" "0" "445" "0" "c.445G>A" "r.(?)" "p.(Val149Met)" ""
"0001040504" "00010323" "50" "605" "0" "605" "0" "c.605C>A" "r.(?)" "p.(Ala202Asp)" ""
"0001040505" "00010323" "30" "742" "0" "742" "0" "c.742C>T" "r.(?)" "p.(Arg248Cys)" ""
"0001040506" "00010323" "10" "769" "0" "769" "0" "c.769G>C" "r.(?)" "p.(Asp257His)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 24
"{{screeningid}}" "{{variantid}}"
"0000036050" "0000063175"
"0000036051" "0000063176"
"0000036052" "0000063177"
"0000036053" "0000063178"
"0000036054" "0000063179"
"0000206870" "0000436503"
"0000206871" "0000436504"
"0000206872" "0000436505"
"0000206873" "0000436506"
"0000206874" "0000436507"
"0000206875" "0000436508"
"0000208850" "0000438848"
"0000209886" "0000440126"
"0000219428" "0000454279"
"0000282934" "0000638673"
"0000296442" "0000653131"
"0000296584" "0000653273"
"0000306878" "0000670695"
"0000375966" "0000787317"
"0000393190" "0000823949"
"0000444154" "0000946011"
"0000444238" "0000946095"
"0000444258" "0000946199"
"0000444270" "0000946126"