### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FKBP14) # 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}}" "FKBP14" "FKBP prolyl isomerase 14" "7" "p14.3" "unknown" "NG_032173.1" "UD_134278359780" "" "https://www.LOVD.nl/FKBP14" "Infromed Constent before genetic testing " "1" "18625" "55033" "614505" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/FKBP14_NM_017946.2_codingDNA.html" "1" "" "

Ehlers Danlos Syndrome Variant Database

\r\n\r\n
\r\n\r\n\r\n
\r\n
" "-1" "" "-1" "00008" "2012-07-20 00:00:00" "00085" "2024-02-13 14:26:07" "00006" "2025-11-13 13:04:16" ## 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}}" "00025816" "FKBP14" "transcript variant 1" "000" "NM_017946.3" "" "NP_060416.1" "" "" "" "-293" "4788" "636" "30066417" "30050199" "00006" "2023-03-08 13:09:20" "" "" ## 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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00169" "EDS" "Ehlers-Danlos syndrome (EDS)" "" "" "" "" "" "00006" "2013-08-01 11:03:44" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00922" "EDSKSCL2" "Ehlers-Danlos syndrome, kyphoscoliotic, type 2 (EDSKSCL-2)" "AR" "614557" "" "" "autosomal recessive" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "FKBP14" "00169" "FKBP14" "00922" ## Individuals ## Do not remove or alter this header ## ## Count = 46 "{{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}}" "00001642" "" "" "" "1" "" "00025" "{PMID:Baumann 2012:22265013}" "The proband (P1) is great nephew of individual P2 who is also homozygous for the same variant." "M" "?" "Austria" "" "0" "" "" "white" "" "00001643" "" "" "" "1" "" "00025" "{PMID:Baumann 2012:22265013}" "umbical herniae" "F" "?" "Austria" "" "" "" "" "white" "" "00001644" "" "" "" "1" "" "00025" "{PMID:Baumann 2012:22265013}" "umbilical herniae" "F" "?" "Italy" "" "" "" "" "white" "" "00001645" "" "" "" "1" "" "00025" "{PMID:Baumann 2012:22265013} {PMID:Bursztejn 2017:27905128}" "" "F" "?" "France" "" "0" "" "" "white" "" "00001646" "" "" "" "1" "" "00025" "{PMID:Baumann 2012:22265013}, {DOI:Baumann 2012:10.1016/j.ajhg.2011.12.004}" "umbilical herniae, microcephaly, learning difficulties" "M" "?" "" "" "0" "" "" "white" "" "00001647" "" "" "" "1" "" "00025" "{PMID:Baumann 2012:22265013}, {DOI:Baumann 2012:10.1016/j.ajhg.2011.12.004}" "" "F" "?" "Germany" "" "0" "" "" "white" "P6" "00050382" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00260890" "" "" "" "1" "" "00006" "{PMID:Giunta 2018:28617417}" "" "F" "" "Egypt" "" "0" "" "" "Arab" "P1/FI" "00260891" "" "" "" "1" "" "00006" "{PMID:Giunta 2018:28617417}" "" "F" "" "Iran" "" "0" "" "" "" "P2/FII" "00260892" "" "" "" "2" "" "00006" "{PMID:Giunta 2018:28617417}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "" "Pakistan" "" "0" "" "" "" "P3/FIII" "00260893" "" "" "00260892" "1" "" "00006" "{PMID:Giunta 2018:28617417}" "" "M" "" "Pakistan" "" "0" "" "" "" "P4/FIII" "00260894" "" "" "" "2" "" "00006" "{PMID:Giunta 2018:28617417}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "" "Pakistan" "" "0" "" "" "" "P5/FIV" "00260895" "" "" "00260894" "1" "" "00006" "{PMID:Giunta 2018:28617417}" "" "M" "" "Pakistan" "" "0" "" "" "" "P6/FIV" "00260896" "" "" "" "1" "" "00006" "{PMID:Giunta 2018:28617417}" "" "F" "" "Croatia (Hrvatska)" "" "0" "" "" "" "P7/FV" "00260897" "" "" "" "1" "" "00006" "{PMID:Giunta 2018:28617417}" "" "F" "" "Austria" "" "0" "" "" "" "P8/FVI" "00260898" "" "" "" "1" "" "00006" "{PMID:Giunta 2018:28617417}" "" "F" "" "Brazil" "" "0" "" "" "white" "P9/FVII" "00260899" "" "" "" "1" "" "00006" "{PMID:Giunta 2018:28617417}" "" "F" "" "United States" "" "0" "" "" "white" "P10/FVIII" "00260900" "" "" "" "1" "" "00006" "{PMID:Giunta 2018:28617417}" "" "M" "" "United States" "" "0" "" "" "white" "P11/FIX" "00260901" "" "" "" "1" "" "00006" "{PMID:Giunta 2018:28617417}" "" "F" "" "Poland" "" "0" "" "" "" "P12/FX" "00260902" "" "" "" "1" "" "00006" "{PMID:Giunta 2018:28617417}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "P13/FXI" "00260903" "" "" "" "1" "" "00006" "{PMID:Giunta 2018:28617417}" "" "M" "" "Turkey" "" "0" "" "" "" "P14/FXII" "00260904" "" "" "" "1" "" "00006" "{PMID:Giunta 2018:28617417}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "P15/FXIII" "00260905" "" "" "" "1" "" "00006" "{PMID:Giunta 2018:28617417}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "P16/FXIV" "00260906" "" "" "" "1" "" "00006" "{PMID:Giunta 2018:28617417}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Pat17" "00294423" "" "" "" "120" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305152" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00319488" "" "" "" "1" "" "00085" "{PMID:Aldeeri et al., 2014:24773188}" "This patient was presented again by {PMID27023906:Alazami et al., 2016} as Family 17 ID: 07DG-0027.The intronic deletion is predicted to lead to the insertion of 17 nucleotides into the transcript and to a new open reading frame containing a premature termination codon." "" "" "" "" "0" "" "" "" "" "00319489" "" "" "" "1" "" "00085" "{PMID27149304 :Dordoni et al. 2016}" "Typographical error in \'Molecular Characterization\' section states the novel mutation to be c.573_576del, not the correct c.573_575 which is stated elsewhere and confirmed by the data." "" "" "Italy" "" "0" "" "" "Italy" "" "00319490" "" "" "" "1" "" "00085" "{PMID:Murray et al., 2014:24677762}" "" "" "" "Germany;United Kingdom (Great Britain)" "" "0" "" "" "German & English American" "" "00319491" "" "" "" "1" "" "00085" "{PMID:Bursztejn et al.,2016:27905128}" "" "" "" "France" "" "0" "" "" "France" "" "00319492" "" "" "" "1" "" "00085" "{PMID:Ruiz-Botero et al., 2019:31063316}" "The patient (17F) was born to consanguineous parents who are first cousins. The technique used was whole exome sequencing." "" "" "Colombia" "" "0" "" "" "Colombian" "" "00319493" "" "" "" "1" "" "00085" "{PMID:Castori et al., 2019:30561154}" "The patient (15F) was conceived via IVF and has an unaffected twin brother. Parents were not consanguineous. The technique used was the custom NGS Gene panel." "" "" "" "" "0" "" "" "" "" "00319494" "" "" "" "1" "" "00085" "{PMID:Volozonoka et al., 2020:32214361}" "The patient (37F) presented with a diagnosis and/or history of cervical insufficiency, a leading cause of preterm birth.The technique used was the custom NGS Gene panel." "" "" "" "" "0" "" "" "white" "Case 2" "00319495" "" "" "" "1" "" "02120" "{PMID:Giunta et al., 2018:28617417}" "" "" "" "Egypt" "" "0" "" "" "Egypt/Ara" "P1/F1" "00361595" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "simplex case" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "07DG-0027" "00374731" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2493" "00413322" "" "" "" "1" "" "04004" "" "" "" "" "" "" "" "" "" "" "" "00413323" "" "" "" "1" "" "04004" "" "" "" "" "" "" "" "" "" "" "" "00413343" "" "" "" "1" "" "04004" "" "" "" "" "" "" "" "" "" "" "" "00433373" "" "" "" "1" "" "04419" "{PMID:Semyachkina et al., 2021:34504686}" "" "M" "no" "Russia" "" "" "" "" "" "Pat1" "00433374" "" "" "" "1" "" "04419" "{PMID:Semyachkina et al., 2021:34504686}" "" "F" "no" "Russia" "" "" "" "" "" "Pat2" "00433375" "" "" "" "1" "" "04419" "{PMID:Semyachkina et al., 2021:34504686}" "" "F" "likely" "Russia" "" "" "" "" "" "Pat3" "00433376" "" "" "" "1" "" "04419" "{PMID:Semyachkina et al., 2021:34504686}" "" "M" "no" "Russia" "" "" "" "" "" "Pat4" "00433377" "" "" "" "1" "" "04419" "{PMID:Semyachkina et al., 2021:34504686}" "" "M" "no" "Russia" "" "" "" "" "" "Pat5" "00465823" "" "" "" "1" "" "00006" "{PMID:Alazami 2016:27023906}" "patient" "" "" "Saudi Arabia" "" "0" "" "" "" "Fam17" "00468899" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 53 "{{individualid}}" "{{diseaseid}}" "00001642" "00169" "00001643" "00169" "00001644" "00169" "00001645" "00169" "00001646" "00169" "00001647" "00169" "00050382" "00198" "00260890" "00169" "00260891" "00169" "00260892" "00169" "00260893" "00169" "00260894" "00169" "00260895" "00169" "00260896" "00169" "00260897" "00169" "00260898" "00169" "00260899" "00169" "00260900" "00169" "00260901" "00169" "00260902" "00169" "00260903" "00169" "00260904" "00169" "00260905" "00169" "00260906" "00169" "00294423" "00198" "00305152" "00198" "00319488" "00169" "00319488" "00922" "00319489" "00169" "00319489" "00922" "00319490" "00169" "00319490" "00922" "00319491" "00169" "00319491" "00922" "00319492" "00169" "00319492" "00922" "00319493" "00169" "00319493" "00922" "00319494" "00198" "00319495" "00169" "00319495" "00922" "00361595" "00139" "00374731" "00198" "00413322" "00922" "00413323" "00922" "00413343" "00922" "00433373" "00922" "00433374" "00922" "00433375" "00922" "00433376" "00922" "00433377" "00922" "00465823" "00198" "00468899" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00169, 00198, 00922 ## Count = 35 "{{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/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000000804" "00169" "00001642" "00025" "Unknown" "" "hypermobility of large joints; hypermobility of small joints; progressive kyphoscoliosis;flat feet; muscle hypotonia at birth; poor head control in infancy; weakness improving in infancy; delayed motor development; muscular atrophy; eyse bluish sclerae; skin: hyperelastic, soft, plantar softness, follicular hyperkeratosis, hypertrophic scars" "" "hearing loss" "normal" "3m normal; 15ymyopathic" "2y quadriceps, irregular oxidative enzymes; EM focal myofibrillar rearrangments" "" "" "" "" "" "" "" "" "" "" "0000000805" "00169" "00001643" "00025" "Unknown" "" "hypermobility of large joints;hypermobility of small joints; progressive kyphoscoliosis;flat feet; muscle hypotonia at birth; poor head control in infancy; weakness improving in infancy; delayed motor development; muscular atrophy; skin: hyperelastic, soft, easy bruising" "" "hearing loss" "slightly elevated (1.2x)" "6y normal; 30y myopathic" "2y quadriceps, marked fiber atrophy; 4y marked atrophy, proliferation of fatty tissue; 7y anterior tibial, myopatic, proliferation of fatty tissue; 30y paraspinal, mildly moypathic, atrophic fibers" "" "" "" "" "" "" "" "" "" "" "0000000806" "00169" "00001644" "00025" "Unknown" "" "hypermobility of large joints;hypermobility of small joints;recurrent dislocations; progressive kyphoscoliosis;flat feet; muscle hypotonia at birth; poor head control in infancy; weakness improving in infancy; delayed motor development; muscular atrophy; skin: hyperelastic, soft, plantar softness, follicular hyperkeratosis, easy bruising" "" "hearing loss" "normal" "4m normal; 2y normal" "4m quadriceps, mildly myopathic; 4y paraspinal, areas with fiber atrophy, slightly increasd intrafusal fat; 6y paraspinal, areas with central activity defects of oxidative enzymes, EM: focal myofibrillar rearrangements" "" "" "" "" "" "" "" "" "" "" "0000000807" "00169" "00001645" "00025" "Unknown" "" "hypermobility of large joints;hypermobility of small joints; progressive kyphoscoliosis;flat feet; muscle hypotonia at birth; poor head control in infancy; weakness improving in infancy; delayed motor development; muscular atrophy; skin: soft, plantar softness, follicular hyperkeratosis" "" "normal" "normal" "1y myopatic" "2y quadriceps, mildly mypathic; 6y myopathic; 12y dorsal, myopathic with increased variation of fiber diameter, EM: bifurcation of sarcomeres, small zones of Z-band streaming and some disorganized myofibrils" "" "" "" "" "" "" "" "" "" "" "0000000808" "00169" "00001646" "00025" "Unknown" "" "hypermobility of large joints;hypermobility of small joints;recurrent dislocations; progressive kyphoscoliosis;flat feet;fractures; muscle hypotonia at birth; poor head control in infancy; weakness improving in infancy; delayed motor development; muscular atrophy; valvular abnormalities heart; skin: hyperelastic, soft, plantar softness, easy bruising" "" "hearing loss" "slightly elevated (1.2x)" "" "1y, quardriceps, myopahtic" "" "" "" "" "" "" "" "" "" "" "0000000809" "00169" "00001647" "00025" "Unknown" "" "hypermobility of large joints;hypermobility of small joints; progressive kyphoscoliosis;flat feet; muscle hypotonia at birth; poor head control in infancy; weakness improving in infancy; delayed motor development; muscular atrophy; skin: hyperelastic, soft, plantar softness, follicular hyperkeratosis" "" "hearing loss" "slightly elevated (1.3x)" "" "1y quadriceps, mildly myopatic with increased variation of fiber diameter" "" "" "" "" "" "" "" "" "" "" "0000036994" "00198" "00050382" "00006" "Isolated (sporadic)" "" "intrauterine growth retardation, proportionate short stature, clinodactyly of the 5th finger, webbed neck, epicanthus, intellectual disability mild" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000199424" "00169" "00260890" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "EDSKSCL-2" "Ehlers-Danlos syndrome" "" "0000199425" "00169" "00260891" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "EDSKSCL-2" "Ehlers-Danlos syndrome" "" "0000199426" "00169" "00260892" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "EDSKSCL-2" "Ehlers-Danlos syndrome" "" "0000199427" "00169" "00260893" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "EDSKSCL-2" "Ehlers-Danlos syndrome" "" "0000199428" "00169" "00260894" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "EDSKSCL-2" "Ehlers-Danlos syndrome" "" "0000199429" "00169" "00260895" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "EDSKSCL-2" "Ehlers-Danlos syndrome" "" "0000199430" "00169" "00260896" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "EDSKSCL-2" "Ehlers-Danlos syndrome" "" "0000199431" "00169" "00260897" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "EDSKSCL-2" "Ehlers-Danlos syndrome" "" "0000199432" "00169" "00260898" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "EDSKSCL-2" "Ehlers-Danlos syndrome" "" "0000199433" "00169" "00260899" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "EDSKSCL-2" "Ehlers-Danlos syndrome" "" "0000199434" "00169" "00260900" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "EDSKSCL-2" "Ehlers-Danlos syndrome" "" "0000199435" "00169" "00260901" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "EDSKSCL-2" "Ehlers-Danlos syndrome" "" "0000199436" "00169" "00260902" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "EDSKSCL-2" "Ehlers-Danlos syndrome" "" "0000199437" "00169" "00260903" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "EDSKSCL-2" "Ehlers-Danlos syndrome" "" "0000199438" "00169" "00260904" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "EDSKSCL-2" "Ehlers-Danlos syndrome" "" "0000199439" "00169" "00260905" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "" "EDSKSCL-2" "Ehlers-Danlos syndrome" "" "0000241903" "00169" "00319489" "00085" "-" "" "Originally described as EDS FKBP22," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000241904" "00169" "00319490" "00085" "-" "" "Originally described as EDS FKBP22," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000241905" "00169" "00319491" "00085" "-" "" "Originally described as EDS FKBP22," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000257000" "00139" "00361595" "00006" "Familial, autosomal recessive" "1y" "not syndromic; global developmental delay, joint hyperlaxity, hypotonia" "" "" "" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000269941" "00198" "00374731" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "myopathy" "" "0000323893" "00922" "00433373" "04419" "Unknown" "" "2nd degree kyphoscoliosis. Spina bifida sacralis dorsalis S3-S5. Bilateral nephroptosis. Mild bilateral hypermetropia. Open ductus arteriosus. Sinus arrhythmias." "00y17m" "" "" "" "" "03y" "" "" "" "" "" "" "" "" "" "0000323894" "00922" "00433374" "04419" "Unknown" "" "Pectus excavatum 2nd degree. Thoracolumbar scoliosis of the third degree. Beighton score of 8. Open ductus arteriosus. Bicuspid aortic valve. Bilateral nephroptosis." "00y12m" "" "" "" "" "08y" "" "" "" "" "" "" "" "" "" "0000323895" "00922" "00433375" "04419" "Unknown" "" "Thoracolumbar dextroscoliosis 3rd degree. Osteoporosis. Beighton score of 8. Sinus arrhythmia. Pulmonary function impairment. Mild to bilateral sensorineural hearing loss." "00y24m" "" "" "" "" "11y" "" "" "" "" "" "" "" "" "" "0000323896" "00922" "00433376" "04419" "Unknown" "" "Pectus excavatum 2nd degree. Thoracolumbar scoliosis 4th degree. Sinus tachyarrhythmia. Bilateral sensorineural hearing loss. Astigmatism, chorioretinitis." "00y24m" "" "" "" "" "15y" "" "" "" "" "" "" "" "" "" "0000323897" "00922" "00433377" "04419" "Unknown" "" "Thoracolumbar levokyphoscoliosis of\r\nthe 2nd degree. Osteoporosis. Nephroptosis. Mild bilateral mixed hearing loss. Mixed bilateral astigmatism." "00y08m" "" "" "" "" "02y" "" "" "" "" "" "" "" "" "" "0000351270" "00198" "00465823" "00006" "Familial, autosomal recessive" "" "see paper; ..., Significant skin and joint laxity, excessively redundant umbilical skin, hypotonia, myopathy, global developmental delay, microcephaly, subtle dysmorphic features (sloping forehead, square nasal root, mild hypotelorism and epicanthal folds), patent ductus arteriosus" "" "" "" "" "" "" "" "" "" "" "" "" "EDSKSCL2" "joint laxity" "" "0000354052" "00198" "00468899" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the musculoskeletal system" "" ## Screenings ## Do not remove or alter this header ## ## Count = 46 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000001443" "00001642" "1" "00025" "00006" "2012-06-29 11:49:44" "" "" "SEQ" "DNA" "" "" "0000001444" "00001643" "1" "00025" "00006" "2012-07-30 15:48:25" "" "" "SEQ" "DNA" "" "" "0000001445" "00001644" "1" "00025" "00006" "2012-07-31 09:23:07" "" "" "SEQ" "DNA" "" "" "0000001446" "00001645" "1" "00025" "00006" "2012-07-30 17:04:47" "" "" "SEQ" "DNA" "" "" "0000001447" "00001646" "1" "00025" "00006" "2012-07-31 09:35:27" "" "" "SEQ" "DNA" "" "" "0000001448" "00001647" "1" "00025" "00006" "2012-07-31 10:39:27" "" "" "SEQ" "DNA" "" "" "0000050327" "00050382" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000261995" "00260890" "1" "00006" "00006" "2019-08-09 14:02:59" "" "" "SEQ" "DNA" "" "" "0000261996" "00260891" "1" "00006" "00006" "2019-08-09 14:02:59" "" "" "SEQ" "DNA" "" "" "0000261997" "00260892" "1" "00006" "00006" "2019-08-09 14:02:59" "" "" "SEQ" "DNA" "" "" "0000261998" "00260893" "1" "00006" "00006" "2019-08-09 14:02:59" "" "" "SEQ" "DNA" "" "" "0000261999" "00260894" "1" "00006" "00006" "2019-08-09 14:02:59" "" "" "SEQ" "DNA" "" "" "0000262000" "00260895" "1" "00006" "00006" "2019-08-09 14:02:59" "" "" "SEQ" "DNA" "" "" "0000262001" "00260896" "1" "00006" "00006" "2019-08-09 14:02:59" "" "" "SEQ" "DNA" "" "" "0000262002" "00260897" "1" "00006" "00006" "2019-08-09 14:02:59" "" "" "SEQ" "DNA" "" "" "0000262003" "00260898" "1" "00006" "00006" "2019-08-09 14:02:59" "" "" "SEQ" "DNA" "" "" "0000262004" "00260899" "1" "00006" "00006" "2019-08-09 14:02:59" "" "" "SEQ" "DNA" "" "" "0000262005" "00260900" "1" "00006" "00006" "2019-08-09 14:02:59" "" "" "SEQ" "DNA" "" "" "0000262006" "00260901" "1" "00006" "00006" "2019-08-09 14:02:59" "" "" "SEQ" "DNA" "" "" "0000262007" "00260902" "1" "00006" "00006" "2019-08-09 14:02:59" "" "" "SEQ" "DNA" "" "" "0000262008" "00260903" "1" "00006" "00006" "2019-08-09 14:02:59" "" "" "SEQ" "DNA" "" "" "0000262009" "00260904" "1" "00006" "00006" "2019-08-09 14:02:59" "" "" "SEQ" "DNA" "" "" "0000262010" "00260905" "1" "00006" "00006" "2019-08-09 14:02:59" "" "" "SEQ" "DNA" "" "" "0000262011" "00260906" "1" "00006" "00006" "2019-08-09 14:02:59" "" "" "SEQ" "DNA" "" "" "0000295591" "00294423" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306281" "00305152" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000320669" "00319488" "1" "00085" "00085" "2017-04-30 20:04:11" "00085" "2019-08-27 13:05:48" "SEQ" "DNA" "" "" "0000320670" "00319489" "1" "00085" "00085" "2016-10-24 21:53:17" "" "" "PCR;SEQ" "DNA" "" "" "0000320671" "00319490" "1" "00085" "00085" "2016-10-24 22:29:58" "00085" "2016-11-08 17:12:47" "PCR;SEQ" "DNA" "" "" "0000320672" "00319491" "1" "00085" "00085" "2017-04-30 19:48:42" "00085" "2017-04-30 19:50:08" "?" "DNA" "" "" "0000320673" "00319492" "1" "00085" "00085" "2020-04-27 11:43:15" "" "" "SEQ-NG" "DNA" "" "" "0000320674" "00319493" "1" "00085" "00085" "2020-04-27 14:13:27" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000320675" "00319494" "1" "00085" "00085" "2020-04-29 16:11:40" "" "" "SEQ-NG" "DNA" "" "" "0000320676" "00319495" "1" "02120" "02120" "2017-06-26 11:00:39" "00085" "2019-08-27 12:45:21" "SEQ" "DNA" "" "" "0000362823" "00361595" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "WES" "0000375925" "00374731" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000414596" "00413322" "1" "04004" "04004" "2022-07-15 11:22:20" "" "" "SEQ-NG-I" "DNA" "" "" "0000414619" "00413323" "1" "04004" "04004" "2022-07-15 14:20:15" "" "" "SEQ-NG-I" "DNA" "" "" "0000414620" "00413343" "1" "04004" "04004" "2022-07-15 14:37:45" "" "" "SEQ-NG-I" "DNA" "" "" "0000434827" "00433373" "1" "04419" "04419" "2023-03-06 19:36:27" "" "" "PCR;SEQ" "DNA" "Peripheral blood" "" "0000434828" "00433374" "1" "04419" "04419" "2023-03-06 20:16:51" "" "" "PCR;SEQ" "DNA" "Peripheral blood" "" "0000434829" "00433375" "1" "04419" "04419" "2023-03-06 20:28:44" "" "" "PCR;SEQ" "DNA" "Peripheral blood" "" "0000434830" "00433376" "1" "04419" "04419" "2023-03-07 02:30:37" "" "" "PCR;SEQ" "DNA" "Peripheral blood" "" "0000434831" "00433377" "1" "04419" "04419" "2023-03-07 02:42:06" "" "" "PCR;SEQ" "DNA" "Peripheral blood" "" "0000467474" "00465823" "1" "00006" "00006" "2025-06-07 12:17:17" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "WES" "0000470567" "00468899" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 41 "{{screeningid}}" "{{geneid}}" "0000001443" "FKBP14" "0000001444" "FKBP14" "0000001445" "FKBP14" "0000001446" "FKBP14" "0000001447" "FKBP14" "0000001448" "FKBP14" "0000261995" "FKBP14" "0000261996" "FKBP14" "0000261997" "FKBP14" "0000261998" "FKBP14" "0000261999" "FKBP14" "0000262000" "FKBP14" "0000262001" "FKBP14" "0000262002" "FKBP14" "0000262003" "FKBP14" "0000262004" "FKBP14" "0000262005" "FKBP14" "0000262006" "FKBP14" "0000262007" "FKBP14" "0000262008" "FKBP14" "0000262009" "FKBP14" "0000262010" "FKBP14" "0000262011" "FKBP14" "0000320669" "FKBP14" "0000320670" "FKBP14" "0000320671" "FKBP14" "0000320672" "FKBP14" "0000320673" "FKBP14" "0000320674" "FKBP14" "0000320675" "FKBP14" "0000320676" "FKBP14" "0000362823" "FKBP14" "0000375925" "FKBP14" "0000414596" "FKBP14" "0000414619" "FKBP14" "0000414620" "FKBP14" "0000434827" "FKBP14" "0000434828" "FKBP14" "0000434829" "FKBP14" "0000434830" "FKBP14" "0000434831" "FKBP14" ## 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 = 66 "{{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}}" "0000019240" "11" "99" "13" "30058727" "30058727" "dup" "0" "00025" "FKBP14_000001" "g.30058727dup" "" "{PMID:Baumann 2012:22265013}, {DOI:Baumann 2012:10.1016/j.ajhg.2011.12.004}" "" "" "" "Unknown" "" "" "0" "" "" "g.30019111dup" "" "pathogenic" "" "0000019241" "21" "99" "13" "30058727" "30058727" "dup" "0" "00025" "FKBP14_000001" "g.30058727dup" "" "{PMID:Baumann 2012:22265013}, {DOI:Baumann 2012:10.1016/j.ajhg.2011.12.004}" "" "" "" "Unknown" "" "" "" "" "" "g.30019111dup" "" "pathogenic" "" "0000019242" "11" "99" "13" "30058727" "30058727" "dup" "0" "00025" "FKBP14_000001" "g.30058727dup" "" "{PMID:Baumann 2012:22265013}, {DOI:Baumann 2012:10.1016/j.ajhg.2011.12.004}" "" "" "" "Unknown" "" "" "" "" "" "g.30019111dup" "" "pathogenic" "" "0000019243" "21" "99" "13" "30058727" "30058727" "dup" "0" "00025" "FKBP14_000001" "g.30058727dup" "" "{PMID:Baumann 2012:22265013}, {DOI:Baumann 2012:10.1016/j.ajhg.2011.12.004}" "" "" "" "Unknown" "" "" "" "" "" "g.30019111dup" "" "pathogenic" "" "0000019244" "11" "99" "13" "30058727" "30058727" "dup" "0" "00025" "FKBP14_000001" "g.30058727dup" "" "{PMID:Baumann 2012:22265013}, {DOI:Baumann 2012:10.1016/j.ajhg.2011.12.004}" "" "" "" "Unknown" "" "" "0" "" "" "g.30019111dup" "" "pathogenic" "" "0000019245" "21" "99" "13" "30058727" "30058727" "dup" "0" "00025" "FKBP14_000001" "g.30058727dup" "" "{PMID:Baumann 2012:22265013}, {DOI:Baumann 2012:10.1016/j.ajhg.2011.12.004}" "" "" "" "Unknown" "" "" "0" "" "" "g.30019111dup" "" "pathogenic" "" "0000019246" "11" "99" "13" "30058727" "30058727" "dup" "0" "00025" "FKBP14_000001" "g.30058727dup" "" "{PMID:Baumann 2012:22265013}, {DOI:Baumann 2012:10.1016/j.ajhg.2011.12.004}" "" "" "" "Unknown" "" "" "0" "" "" "g.30019111dup" "" "pathogenic" "" "0000019247" "21" "99" "13" "30058727" "30058727" "dup" "0" "00025" "FKBP14_000001" "g.30058727dup" "" "{PMID:Baumann 2012:22265013}, {DOI:Baumann 2012:10.1016/j.ajhg.2011.12.004}" "" "" "" "Unknown" "" "" "0" "" "" "g.30019111dup" "" "pathogenic" "" "0000019248" "11" "99" "13" "30058727" "30058727" "dup" "0" "00025" "FKBP14_000001" "g.30058727dup" "" "{PMID:Baumann 2012:22265013}, {DOI:Baumann 2012:10.1016/j.ajhg.2011.12.004}" "" "" "" "Unknown" "" "" "0" "" "" "g.30019111dup" "" "pathogenic" "" "0000019249" "21" "99" "13" "30058727" "30058727" "del" "0" "00025" "FKBP14_000001" "g.30058727dup" "" "{PMID:Baumann 2012:22265013}, {DOI:Baumann 2012:10.1016/j.ajhg.2011.12.004}" "" "" "" "Unknown" "" "" "0" "" "" "g.30019111dup" "" "pathogenic" "" "0000019250" "11" "99" "13" "30066065" "30066083" "dup" "0" "00025" "FKBP14_000012" "g.30066065_30066083del" "" "{PMID:Baumann 2012:22265013}, {DOI:Baumann 2012:10.1016/j.ajhg.2011.12.004}" "" "" "" "Unknown" "" "" "0" "" "" "g.29491928_29491946del" "" "pathogenic" "" "0000019251" "21" "99" "13" "30058727" "30058727" "dup" "0" "00025" "FKBP14_000001" "g.30058727dup" "" "{PMID:Baumann 2012:22265013}, {DOI:Baumann 2012:10.1016/j.ajhg.2011.12.004}" "" "" "" "Unknown" "" "" "0" "" "" "g.30019111dup" "" "pathogenic" "" "0000079307" "0" "90" "7" "23187650" "32932034" "del" "0" "00006" "ADCYAP1R1_000001" "g.23187650_32932034del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000283227" "0" "10" "7" "30065960" "30065960" "subst" "0.0243879" "02329" "FKBP14_000015" "g.30065960G>A" "" "" "" "FKBP14(NM_017946.4):c.165C>T (p.Y55=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30026344G>A" "" "benign" "" "0000283229" "0" "30" "7" "30058714" "30058714" "subst" "0.00151552" "02329" "FKBP14_000007" "g.30058714C>G" "" "" "" "FKBP14(NM_017946.3):c.375G>C (p.(Leu125=)), FKBP14(NM_017946.4):c.375G>C (p.L125=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30019098C>G" "" "likely benign" "" "0000287529" "0" "50" "7" "30066006" "30066006" "subst" "0" "01943" "FKBP14_000006" "g.30066006C>G" "" "" "" "FKBP14(NM_017946.3):c.119G>C (p.R40P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30026390C>G" "" "VUS" "" "0000345090" "0" "99" "7" "30058727" "30058727" "dup" "0" "02327" "FKBP14_000001" "g.30058727dup" "" "" "" "FKBP14(NM_017946.3):c.362dupC (p.E122Rfs*7)" "VKGL data sharing initiative Nederland; Variant no longer found in the VKGL dataset for this center." "CLASSIFICATION record" "" "" "0" "" "" "g.30019111dup" "" "pathogenic" "" "0000531805" "0" "90" "7" "30058731" "30058731" "dup" "0" "01943" "FKBP14_000001" "g.30058731dup" "" "" "" "FKBP14(NM_017946.3):c.362dupC (p.E122Rfs*7), FKBP14(NM_017946.4):c.362dup (p.(Glu122ArgfsTer7)), FKBP14(NM_017946.4):c.362dupC (p.E122Rfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30019111dup" "" "pathogenic" "" "0000531806" "0" "90" "7" "30058731" "30058731" "dup" "0" "02329" "FKBP14_000001" "g.30058731dup" "" "" "" "FKBP14(NM_017946.3):c.362dupC (p.E122Rfs*7), FKBP14(NM_017946.4):c.362dup (p.(Glu122ArgfsTer7)), FKBP14(NM_017946.4):c.362dupC (p.E122Rfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30019111dup" "" "pathogenic" "" "0000592129" "3" "99" "7" "30065982" "30065982" "subst" "0" "00006" "FKBP14_000011" "g.30065982A>T" "" "{PMID:Giunta 2018:28617417}" "" "" "" "Germline" "" "" "0" "" "" "g.30026366A>T" "" "pathogenic (recessive)" "" "0000592130" "3" "90" "7" "30065924" "30065927" "del" "0" "00006" "FKBP14_000004" "g.30065924_30065927del" "" "{PMID:Giunta 2018:28617417}" "" "" "" "Germline" "" "" "0" "" "" "g.30026308_30026311del" "" "pathogenic (recessive)" "" "0000592131" "3" "90" "7" "30065924" "30065927" "del" "0" "00006" "FKBP14_000004" "g.30065924_30065927del" "" "{PMID:Giunta 2018:28617417}" "" "" "The intronic deletion leads to the insertion of 17 nucleotides into the transcript and to a new open reading frame containing a premature termination codon." "Germline" "" "" "0" "" "" "g.30026308_30026311del" "" "pathogenic (recessive)" "" "0000592132" "3" "90" "7" "30065924" "30065927" "del" "0" "00006" "FKBP14_000004" "g.30065924_30065927del" "" "{PMID:Giunta 2018:28617417}" "" "" "The intronic deletion leads to the insertion of 17 nucleotides into the transcript and to a new open reading frame containing a premature termination codon." "Germline" "" "" "0" "" "" "g.30026308_30026311del" "" "pathogenic (recessive)" "" "0000592133" "3" "90" "7" "30065924" "30065927" "del" "0" "00006" "FKBP14_000004" "g.30065924_30065927del" "" "{PMID:Giunta 2018:28617417}" "" "" "The intronic deletion leads to the insertion of 17 nucleotides into the transcript and to a new open reading frame containing a premature termination codon." "Germline" "" "" "0" "" "" "g.30026308_30026311del" "" "pathogenic (recessive)" "" "0000592134" "3" "90" "7" "30058727" "30058727" "dup" "0" "00006" "FKBP14_000001" "g.30058727dup" "" "{PMID:Giunta 2018:28617417}" "" "362dupC" "" "Germline" "" "" "0" "" "" "g.30019111dup" "" "pathogenic (recessive)" "" "0000592135" "3" "90" "7" "30058727" "30058727" "dup" "0" "00006" "FKBP14_000001" "g.30058727dup" "" "{PMID:Giunta 2018:28617417}" "" "363dupC" "" "Germline" "" "" "0" "" "" "g.30019111dup" "" "pathogenic (recessive)" "" "0000592136" "3" "90" "7" "30058727" "30058727" "dup" "0" "00006" "FKBP14_000001" "g.30058727dup" "" "{PMID:Giunta 2018:28617417}" "" "364dupC" "" "Germline" "" "" "0" "" "" "g.30019111dup" "" "pathogenic (recessive)" "" "0000592137" "3" "90" "7" "30058727" "30058727" "dup" "0" "00006" "FKBP14_000001" "g.30058727dup" "" "{PMID:Giunta 2018:28617417}" "" "365dupC" "" "Germline" "" "" "0" "" "" "g.30019111dup" "" "pathogenic (recessive)" "" "0000592138" "3" "90" "7" "30058727" "30058727" "dup" "0" "00006" "FKBP14_000001" "g.30058727dup" "" "{PMID:Giunta 2018:28617417}" "" "366dupC" "" "Germline" "" "" "0" "" "" "g.30019111dup" "" "pathogenic (recessive)" "" "0000592139" "3" "90" "7" "30058727" "30058727" "dup" "0" "00006" "FKBP14_000001" "g.30058727dup" "" "{PMID:Giunta 2018:28617417}" "" "367dupC" "" "Germline" "" "" "0" "" "" "g.30019111dup" "" "pathogenic (recessive)" "" "0000592140" "3" "90" "7" "30058727" "30058727" "dup" "0" "00006" "FKBP14_000001" "g.30058727dup" "" "{PMID:Giunta 2018:28617417}" "" "368dupC" "" "Germline" "" "" "0" "" "" "g.30019111dup" "" "pathogenic (recessive)" "" "0000592141" "3" "90" "7" "30058727" "30058727" "dup" "0" "00006" "FKBP14_000001" "g.30058727dup" "" "{PMID:Giunta 2018:28617417}" "" "369dupC" "" "Germline" "" "" "0" "" "" "g.30019111dup" "" "pathogenic (recessive)" "" "0000592142" "3" "90" "7" "30058727" "30058727" "dup" "0" "00006" "FKBP14_000001" "g.30058727dup" "" "{PMID:Giunta 2018:28617417}" "" "370dupC" "" "Germline" "" "" "0" "" "" "g.30019111dup" "" "pathogenic (recessive)" "" "0000592143" "3" "90" "7" "30058727" "30058727" "dup" "0" "00006" "FKBP14_000001" "g.30058727dup" "" "{PMID:Giunta 2018:28617417}" "" "371dupC" "" "Germline" "" "" "0" "" "" "g.30019111dup" "" "pathogenic (recessive)" "" "0000592144" "3" "90" "7" "30058727" "30058727" "dup" "0" "00006" "FKBP14_000001" "g.30058727dup" "" "{PMID:Giunta 2018:28617417}" "" "372dupC" "" "Germline" "" "" "0" "" "" "g.30019111dup" "" "pathogenic (recessive)" "" "0000592145" "3" "90" "7" "30058727" "30058727" "dup" "0" "00006" "FKBP14_000001" "g.30058727dup" "" "{PMID:Giunta 2018:28617417}" "" "373dupC" "" "Germline" "" "" "0" "" "" "g.30019111dup" "" "pathogenic (recessive)" "" "0000652280" "1" "10" "7" "30065960" "30065960" "subst" "0.0243879" "03575" "FKBP14_000010" "g.30065960G>A" "120/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "120 heterozygous; {DB:CLININrs17150692}" "Germline" "" "rs17150692" "0" "" "" "g.30026344G>A" "" "benign" "" "0000669969" "3" "10" "7" "30065960" "30065960" "subst" "0.0243879" "03575" "FKBP14_000010" "g.30065960G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs17150692}" "Germline" "" "rs17150692" "0" "" "" "g.30026344G>A" "" "benign" "" "0000703400" "3" "99" "7" "30065924" "30065927" "del" "0" "00085" "FKBP14_000004" "g.30065924_30065927del" "" "{PMID:Aldeeri et al., 2014:24773188}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703401" "10" "99" "7" "30058727" "30058727" "dup" "0" "00085" "FKBP14_000001" "g.30058727dup" "" "{PMID27149304 :Dordoni et al. 2016}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703402" "3" "99" "7" "30058727" "30058727" "dup" "0" "00085" "FKBP14_000001" "g.30058727dup" "" "{PMID:Murray et al., 2014:24677762}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703403" "3" "99" "7" "30058727" "30058727" "dup" "0" "00085" "FKBP14_000001" "g.30058727dup" "" "{PMID:Bursztejn et al.,2016:27905128}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703404" "3" "99" "7" "30058727" "30058727" "dup" "0" "00085" "FKBP14_000001" "g.30058727dup" "" "{PMID:Ruiz-Botero et al., 2019:31063316}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703405" "3" "99" "7" "30058727" "30058727" "dup" "0" "00085" "FKBP14_000001" "g.30058727dup" "" "{PMID:Castori et al., 2019:30561154}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703406" "20" "97" "7" "30054412" "30054414" "del" "4.12896E-6" "00085" "FKBP14_000003" "g.30054412_30054414del" "" "{PMID27149304 :Dordoni et al. 2016}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000703407" "0" "11" "7" "30054489" "30054491" "del" "0.000979101" "00085" "FKBP14_000008" "g.30054489_30054491del" "" "{PMID:Volozonoka et al., 2020:32214361}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0000703408" "3" "99" "7" "30054464" "30054464" "dup" "0" "02120" "FKBP14_000005" "g.30054464dup" "" "{PMID:Giunta et al., 2018:28617417}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000763197" "3" "70" "7" "30065924" "30065927" "del" "0" "00006" "FKBP14_000004" "g.30065924_30065927del" "" "{PMID:Anazi 2017:27431290}" "" "197+5_197+8delGTAA" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.30026308_30026311del" "" "likely pathogenic" "ACMG" "0000787276" "3" "50" "7" "0" "0" "" "0" "00006" "EZH2_000001" "g.?" "" "{PMID:Ganapathy 2019:31069529}" "" "c.143T>A (Met48Lys)" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000872294" "3" "90" "7" "30054400" "30054400" "subst" "8.25893E-6" "04004" "FKBP14_000016" "g.30054400T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000872314" "3" "90" "7" "30058731" "30058731" "dup" "0" "04004" "FKBP14_000001" "g.30058731dup" "" "" "" "362dupC" "" "Germline" "" "" "0" "" "" "g.30019115dup" "" "pathogenic (recessive)" "" "0000872328" "3" "90" "7" "30066123" "30066123" "subst" "0" "04004" "FKBP14_000017" "g.30066123A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.30026507A>C" "" "pathogenic (recessive)" "" "0000920720" "3" "90" "7" "30058731" "30058731" "dup" "0" "04419" "FKBP14_000001" "g.30058731dup" "" "{PMID:Semyachkina et al., 2021:34504686}" "" "362dupC" "" "Germline" "yes" "" "0" "" "" "g.30019115dup" "" "pathogenic (recessive)" "ACMG" "0000920721" "3" "90" "7" "30058731" "30058731" "dup" "0" "04419" "FKBP14_000001" "g.30058731dup" "" "{PMID:Semyachkina et al., 2021:34504686}" "" "" "" "Germline" "yes" "" "0" "" "" "g.30019115dup" "" "pathogenic (recessive)" "ACMG" "0000920722" "3" "90" "7" "30058731" "30058731" "dup" "0" "04419" "FKBP14_000001" "g.30058731dup" "" "{PMID:Semyachkina et al., 2021:34504686}" "" "" "" "Germline" "yes" "" "0" "" "" "g.30019115dup" "" "pathogenic (recessive)" "ACMG" "0000920723" "3" "90" "7" "30058731" "30058731" "dup" "0" "04419" "FKBP14_000001" "g.30058731dup" "" "{PMID:Semyachkina et al., 2021:34504686}" "" "" "" "Germline" "yes" "" "0" "" "" "g.30019115dup" "" "pathogenic (recessive)" "ACMG" "0000920724" "3" "90" "7" "30058731" "30058731" "dup" "0" "04419" "FKBP14_000001" "g.30058731dup" "" "{PMID:Semyachkina et al., 2021:34504686}" "" "" "" "Germline" "yes" "" "0" "" "" "g.30019115dup" "" "pathogenic (recessive)" "ACMG" "0000924707" "0" "30" "7" "30054363" "30054363" "subst" "4.33618E-6" "02329" "FKBP14_000018" "g.30054363G>A" "" "" "" "FKBP14(NM_017946.4):c.624C>T (p.H208=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948902" "0" "30" "7" "30058714" "30058714" "subst" "0.00151552" "01804" "FKBP14_000007" "g.30058714C>G" "" "" "" "FKBP14(NM_017946.3):c.375G>C (p.(Leu125=)), FKBP14(NM_017946.4):c.375G>C (p.L125=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977676" "0" "90" "7" "30058731" "30058731" "dup" "0" "01804" "FKBP14_000001" "g.30058731dup" "" "" "" "FKBP14(NM_017946.3):c.362dupC (p.E122Rfs*7), FKBP14(NM_017946.4):c.362dup (p.(Glu122ArgfsTer7)), FKBP14(NM_017946.4):c.362dupC (p.E122Rfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000996449" "0" "30" "7" "30054492" "30054492" "subst" "0.000555872" "02329" "FKBP14_000019" "g.30054492C>T" "" "" "" "FKBP14(NM_017946.4):c.495G>A (p.K165=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025384" "0" "30" "7" "30062300" "30062300" "subst" "0.00035388" "02329" "FKBP14_000020" "g.30062300G>A" "" "" "" "FKBP14(NM_017946.4):c.330C>T (p.G110=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045286" "3" "90" "7" "30065924" "30065927" "del" "0" "00006" "FKBP14_000004" "g.30065924_30065927del" "" "{PMID:Alazami 2016:27023906}" "" "197+5_197+8delGTAA" "" "Germline" "" "" "0" "" "" "g.30026308_30026311del" "" "pathogenic (recessive)" "" "0001052636" "0" "50" "7" "30058731" "30058731" "subst" "0" "01804" "FKBP14_000021" "g.30058731G>C" "" "" "" "FKBP14(NM_017946.4):c.358C>G (p.(Pro120Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052637" "0" "50" "7" "30058732" "30058732" "subst" "2.96285E-5" "01804" "FKBP14_000022" "g.30058732A>C" "" "" "" "FKBP14(NM_017946.4):c.357T>G (p.(Ile119Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001058689" "0" "90" "7" "30058731" "30058731" "dup" "0" "00006" "FKBP14_000001" "g.30058731dup" "" "{PMID:Retterer 2016:26633542}" "" "362dupC" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.30019115dup" "" "pathogenic" "" ## 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 FKBP14 ## Count = 66 "{{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}}" "0000019240" "00025816" "99" "362" "0" "362" "0" "c.362dup" "r.(?)" "p.(Glu122Argfs*7)" "3" "duplication" "frameshift" "0000019241" "00025816" "99" "362" "0" "362" "0" "c.362dup" "r.(?)" "p.(Glu122Argfs*7)" "3" "" "" "0000019242" "00025816" "99" "362" "0" "362" "0" "c.362dup" "r.(?)" "p.(Glu122Argfs*7)" "3" "" "" "0000019243" "00025816" "99" "362" "0" "362" "0" "c.362dup" "r.(?)" "p.(Glu122Argfs*7)" "3" "" "" "0000019244" "00025816" "99" "362" "0" "362" "0" "c.362dup" "r.(?)" "p.(Glu122Argfs*7)" "3" "duplication" "frameshift" "0000019245" "00025816" "99" "362" "0" "362" "0" "c.362dup" "r.(?)" "p.(Glu122Argfs*7)" "3" "duplication" "frameshift" "0000019246" "00025816" "99" "362" "0" "362" "0" "c.362dup" "r.(?)" "p.(Glu122Argfs*7)" "3" "duplication" "frameshift" "0000019247" "00025816" "99" "362" "0" "362" "0" "c.362dup" "r.(?)" "p.(Glu122Argfs*7)" "3" "duplication" "frameshift" "0000019248" "00025816" "99" "362" "0" "362" "0" "c.362dup" "r.(?)" "p.(Glu122Argfs*7)" "3" "duplication" "frameshift" "0000019249" "00025816" "99" "362" "0" "362" "0" "c.362dup" "r.(?)" "p.(Glu122Argfs*7)" "3" "duplication" "frameshift" "0000019250" "00025816" "99" "42" "0" "60" "0" "c.42_60del" "r.(?)" "p.(Thr15*)" "1" "deletion" "nonsense" "0000019251" "00025816" "99" "362" "0" "362" "0" "c.362dup" "r.(?)" "p.(Glu122Argfs*7)" "03" "duplication" "frameshift" "0000079307" "00025816" "90" "-2865910" "0" "6867337" "0" "c.-2865910_*6866701del" "" "" "" "" "" "0000283227" "00025816" "10" "165" "0" "165" "0" "c.165C>T" "r.(?)" "p.(Tyr55=)" "" "" "" "0000283229" "00025816" "30" "375" "0" "375" "0" "c.375G>C" "r.(?)" "p.(Leu125=)" "" "" "" "0000287529" "00025816" "50" "119" "0" "119" "0" "c.119G>C" "r.(?)" "p.(Arg40Pro)" "" "" "" "0000345090" "00025816" "99" "362" "0" "362" "0" "c.362dup" "r.(?)" "p.(Glu122Argfs*7)" "" "duplication" "frameshift" "0000531805" "00025816" "90" "362" "0" "362" "0" "c.362dup" "r.(?)" "p.(Glu122ArgfsTer7)" "" "" "" "0000531806" "00025816" "90" "362" "0" "362" "0" "c.362dup" "r.(?)" "p.(Glu122ArgfsTer7)" "" "" "" "0000592129" "00025816" "99" "143" "0" "143" "0" "c.143T>A" "r.(?)" "p.(Met48Lys)" "01" "substitution" "missense" "0000592130" "00025816" "90" "197" "5" "197" "8" "c.197+5_197+8del" "r.(197_198insguaauuaugccccgcag )" "p.(His67*)" "" "" "" "0000592131" "00025816" "90" "197" "5" "197" "8" "c.197+5_197+8del" "r.(197_198insguaauuaugccccgcag )" "p.(His67*)" "01" "deletion" "splicing affected" "0000592132" "00025816" "90" "197" "5" "197" "8" "c.197+5_197+8del" "r.197_198insguaauuaugccccgcag" "p.His67*" "01" "deletion" "splicing affected" "0000592133" "00025816" "90" "197" "5" "197" "8" "c.197+5_197+8del" "r.197_198insguaauuaugccccgcag" "p.His67*" "01" "deletion" "splicing affected" "0000592134" "00025816" "90" "362" "0" "362" "0" "c.362dup" "r.(?)" "p.(Glu122Argfs*7)" "" "" "" "0000592135" "00025816" "90" "362" "0" "362" "0" "c.362dup" "r.(?)" "p.(Glu122Argfs*7)" "3" "duplication" "frameshift" "0000592136" "00025816" "90" "362" "0" "362" "0" "c.362dup" "r.(?)" "p.(Glu122Argfs*7)" "3" "duplication" "frameshift" "0000592137" "00025816" "90" "362" "0" "362" "0" "c.362dup" "r.(?)" "p.(Glu122Argfs*7)" "03" "duplication" "frameshift" "0000592138" "00025816" "90" "362" "0" "362" "0" "c.362dup" "r.(?)" "p.(Glu122Argfs*7)" "" "" "" "0000592139" "00025816" "90" "362" "0" "362" "0" "c.362dup" "r.(?)" "p.(Glu122Argfs*7)" "" "" "" "0000592140" "00025816" "90" "362" "0" "362" "0" "c.362dup" "r.(?)" "p.(Glu122Argfs*7)" "" "" "" "0000592141" "00025816" "90" "362" "0" "362" "0" "c.362dup" "r.(?)" "p.(Glu122Argfs*7)" "" "" "" "0000592142" "00025816" "90" "362" "0" "362" "0" "c.362dup" "r.(?)" "p.(Glu122Argfs*7)" "" "" "" "0000592143" "00025816" "90" "362" "0" "362" "0" "c.362dup" "r.(?)" "p.(Glu122Argfs*7)" "" "" "" "0000592144" "00025816" "90" "362" "0" "362" "0" "c.362dup" "r.(?)" "p.(Glu122Argfs*7)" "" "" "" "0000592145" "00025816" "90" "362" "0" "362" "0" "c.362dup" "r.(?)" "p.(Glu122Argfs*7)" "" "" "" "0000652280" "00025816" "10" "165" "0" "165" "0" "c.165C>T" "" "" "" "" "" "0000669969" "00025816" "10" "165" "0" "165" "0" "c.165C>T" "" "" "" "" "" "0000703400" "00025816" "99" "197" "5" "197" "8" "c.197+5_197+8del" "r.spl?" "p.?" "01i" "deletion" "splicing affected?" "0000703401" "00025816" "99" "362" "0" "362" "0" "c.362dup" "r.(?)" "p.(Glu122Argfs*7)" "3" "duplication" "frameshift" "0000703402" "00025816" "99" "362" "0" "362" "0" "c.362dup" "r.(?)" "p.(Glu122Argfs*7)" "3" "duplication" "frameshift" "0000703403" "00025816" "99" "362" "0" "362" "0" "c.362dup" "r.(?)" "p.(Glu122Argfs*7)" "3" "duplication" "frameshift" "0000703404" "00025816" "99" "362" "0" "362" "0" "c.362dup" "r.(?)" "p.(Glu122Argfs*7)" "3" "duplication" "frameshift" "0000703405" "00025816" "99" "362" "0" "362" "0" "c.362dup" "r.(?)" "p.(Glu122Argfs*7)" "3" "duplication" "frameshift" "0000703406" "00025816" "97" "573" "0" "575" "0" "c.573_575del" "r.(?)" "p.(Glu191del)" "4" "deletion" "deletion" "0000703407" "00025816" "11" "496" "0" "498" "0" "c.496_498del" "r.(?)" "p.(Lys166del)" "4" "deletion" "deletion" "0000703408" "00025816" "99" "523" "0" "523" "0" "c.523dup" "r.(?)" "p.(Val175Glyfs*3)" "4" "duplication" "frameshift" "0000763197" "00025816" "70" "197" "5" "197" "8" "c.197+5_197+8del" "r.spl" "p.?" "" "" "" "0000787276" "00025816" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "1" "" "" "0000872294" "00025816" "90" "587" "0" "587" "0" "c.587A>G" "r.(?)" "p.(Asp196Gly)" "" "" "" "0000872314" "00025816" "90" "362" "0" "362" "0" "c.362dup" "r.(?)" "p.(Glu122ArgfsTer7)" "" "" "" "0000872328" "00025816" "90" "2" "0" "2" "0" "c.2T>G" "r.(?)" "p.(Met1?)" "" "" "" "0000920720" "00025816" "90" "362" "0" "362" "0" "c.362dup" "r.(?)" "p.(Glu122ArgfsTer7)" "3" "duplication" "duplication" "0000920721" "00025816" "90" "362" "0" "362" "0" "c.362dup" "r.(?)" "p.(Glu122ArgfsTer7)" "3" "duplication" "duplication" "0000920722" "00025816" "90" "362" "0" "362" "0" "c.362dup" "r.(?)" "p.(Glu122ArgfsTer7)" "3" "duplication" "duplication" "0000920723" "00025816" "90" "362" "0" "362" "0" "c.362dup" "r.(?)" "p.(Glu122ArgfsTer7)" "3" "duplication" "duplication" "0000920724" "00025816" "90" "362" "0" "362" "0" "c.362dup" "r.(?)" "p.(Glu122ArgfsTer7)" "3" "duplication" "duplication" "0000924707" "00025816" "30" "624" "0" "624" "0" "c.624C>T" "r.(?)" "p.(His208=)" "" "" "" "0000948902" "00025816" "30" "375" "0" "375" "0" "c.375G>C" "r.(?)" "p.(Leu125=)" "" "" "" "0000977676" "00025816" "90" "362" "0" "362" "0" "c.362dup" "r.(?)" "p.(Glu122ArgfsTer7)" "" "" "" "0000996449" "00025816" "30" "495" "0" "495" "0" "c.495G>A" "r.(?)" "p.(=)" "" "" "" "0001025384" "00025816" "30" "330" "0" "330" "0" "c.330C>T" "r.(?)" "p.(=)" "" "" "" "0001045286" "00025816" "90" "197" "5" "197" "8" "c.197+5_197+8del" "r.spl" "p.?" "" "" "" "0001052636" "00025816" "50" "358" "0" "358" "0" "c.358C>G" "r.(?)" "p.(Pro120Ala)" "" "" "" "0001052637" "00025816" "50" "357" "0" "357" "0" "c.357T>G" "r.(?)" "p.(Ile119Met)" "" "" "" "0001058689" "00025816" "90" "362" "0" "362" "0" "c.362dup" "r.(?)" "p.(Glu122ArgfsTer7)" "" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 53 "{{screeningid}}" "{{variantid}}" "0000001443" "0000019240" "0000001443" "0000019241" "0000001444" "0000019242" "0000001444" "0000019243" "0000001445" "0000019244" "0000001445" "0000019245" "0000001446" "0000019246" "0000001446" "0000019247" "0000001447" "0000019248" "0000001447" "0000019249" "0000001448" "0000019250" "0000001448" "0000019251" "0000050327" "0000079307" "0000261995" "0000592129" "0000261996" "0000592130" "0000261997" "0000592131" "0000261998" "0000592132" "0000261999" "0000592133" "0000262000" "0000592134" "0000262001" "0000592135" "0000262002" "0000592136" "0000262003" "0000592137" "0000262004" "0000592138" "0000262005" "0000592139" "0000262006" "0000592140" "0000262007" "0000592141" "0000262008" "0000592142" "0000262009" "0000592143" "0000262010" "0000592144" "0000262011" "0000592145" "0000295591" "0000652280" "0000306281" "0000669969" "0000320669" "0000703400" "0000320670" "0000703401" "0000320670" "0000703406" "0000320671" "0000703402" "0000320672" "0000703403" "0000320673" "0000703404" "0000320674" "0000703405" "0000320675" "0000703407" "0000320676" "0000703408" "0000362823" "0000763197" "0000375925" "0000787276" "0000414596" "0000872294" "0000414619" "0000872314" "0000414620" "0000872328" "0000434827" "0000920720" "0000434828" "0000920721" "0000434829" "0000920722" "0000434830" "0000920723" "0000434831" "0000920724" "0000467474" "0001045286" "0000470567" "0001058689"