### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PTK7) # 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}}" "PTK7" "PTK7 protein tyrosine kinase 7" "6" "p21.1-p12.2" "unknown" "NC_000006.11" "UD_136023327671" "" "https://www.LOVD.nl/PTK7" "" "1" "9618" "5754" "601890" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/PTK7_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-08-09 12:46:17" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00023998" "PTK7" "transcript variant PTK7-1" "001" "NM_002821.4" "" "NP_002812.2" "" "" "" "-221" "4052" "3213" "43044006" "43129458" "00006" "2014-12-24 12:09:44" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00152" "CHD" "heart disease, congenital (CHD)" "" "" "" "" "" "00008" "2013-06-19 09:27:11" "00006" "2015-01-23 22:14:45" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00860" "NTD" "neural tube defects, susceptibility to (NTD)" "AD" "182940" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-11-19 16:44:17" "04167" "SCA" "ataxia, spinocerebellar (SCA)" "" "" "" "" "" "00006" "2014-12-24 11:54:32" "00006" "2015-12-08 23:59:30" "05489" "cancer, colon" "cancer, colon" "" "" "" "" "" "00006" "2018-10-26 16:33:57" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 29 "{{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}}" "00027179" "" "" "" "11" "" "00006" "{PMID:Di Gregorio 2014:25065913}" "4-generation family, 11 affecteds (5F, 6M)" "-" "no" "Italy" "" "0" "" "" "" "" "00165298" "" "" "" "1" "" "02528" "{PMID:Lei 2019:30689296}, {DOI:Lei 2019:10.1002/mgg3.584}" "" "" "" "" "" "0" "" "" "China" "" "00165300" "" "" "" "1" "" "02528" "{PMID:Lei 2019:30689296}, {DOI:Lei 2019:10.1002/mgg3.584}" "" "" "" "" "" "0" "" "" "China" "" "00165301" "" "" "" "1" "" "02528" "{PMID:Lei 2019:30689296}, {DOI:Lei 2019:10.1002/mgg3.584}" "" "?" "" "" "" "0" "" "" "China" "" "00165302" "" "" "" "1" "" "02528" "{PMID:Lei 2019:30689296}, {DOI:Lei 2019:10.1002/mgg3.584}" "" "" "" "" "" "0" "" "" "China" "" "00165303" "" "" "" "1" "" "02528" "{PMID:Lei 2019:30689296}, {DOI:Lei 2019:10.1002/mgg3.584}" "" "" "" "" "" "0" "" "" "China" "" "00165304" "" "" "" "1" "" "02528" "{PMID:Lei 2019:30689296}, {DOI:Lei 2019:10.1002/mgg3.584}" "" "" "" "" "" "0" "" "" "China" "" "00165305" "" "" "" "1" "" "02528" "{PMID:Lei 2019:30689296}, {DOI:Lei 2019:10.1002/mgg3.584}" "" "" "" "" "" "0" "" "" "China" "" "00165307" "" "" "" "1" "" "02528" "{PMID:Lei 2019:30689296}, {DOI:Lei 2019:10.1002/mgg3.584}" "" "" "" "" "" "0" "" "" "China" "" "00165308" "" "" "" "1" "" "02528" "{PMID:Lei 2019:30689296}, {DOI:Lei 2019:10.1002/mgg3.584}" "" "" "" "" "" "0" "" "" "China" "" "00165309" "" "" "" "1" "" "02528" "{PMID:Lei 2019:30689296}, {DOI:Lei 2019:10.1002/mgg3.584}" "" "" "" "" "" "0" "" "" "China" "" "00165310" "" "" "" "1" "" "02528" "{PMID:Lei 2019:30689296}, {DOI:Lei 2019:10.1002/mgg3.584}" "" "" "" "" "" "0" "" "" "China" "" "00165311" "" "" "" "1" "" "02528" "{PMID:Lei 2019:30689296}, {DOI:Lei 2019:10.1002/mgg3.584}" "" "" "" "" "" "0" "" "" "China" "" "00165312" "" "" "" "1" "" "02528" "{PMID:Lei 2019:30689296}, {DOI:Lei 2019:10.1002/mgg3.584}" "" "" "" "" "" "0" "" "" "China" "" "00174404" "" "" "" "1" "" "02528" "{PMID:Lei 2019:30689296}, {DOI:Lei 2019:10.1002/mgg3.584}" "" "" "" "" "" "0" "" "" "China" "" "00174405" "" "" "" "1" "" "02528" "{PMID:Lei 2019:30689296}, {DOI:Lei 2019:10.1002/mgg3.584}" "" "" "" "" "" "0" "" "" "China" "" "00174406" "" "" "" "1" "" "02528" "{PMID:Lei 2019:30689296}, {DOI:Lei 2019:10.1002/mgg3.584}" "" "" "" "" "" "0" "" "" "China" "" "00174407" "" "" "" "1" "" "02528" "{PMID:Lei 2019:30689296}, {DOI:Lei 2019:10.1002/mgg3.584}" "" "" "" "" "" "0" "" "" "China" "" "00174408" "" "" "" "1" "" "02528" "{PMID:Lei 2019:30689296}, {DOI:Lei 2019:10.1002/mgg3.584}" "" "" "" "" "" "0" "" "" "China" "" "00174409" "" "" "" "1" "" "02528" "{PMID:Lei 2019:30689296}, {DOI:Lei 2019:10.1002/mgg3.584}" "" "" "" "" "" "0" "" "" "China" "" "00174410" "" "" "" "1" "" "02528" "{PMID:Lei 2019:30689296}, {DOI:Lei 2019:10.1002/mgg3.584}" "" "" "" "" "" "0" "" "" "China" "" "00174411" "" "" "" "1" "" "02528" "{PMID:Lei 2019:30689296}, {DOI:Lei 2019:10.1002/mgg3.584}" "" "" "" "" "" "0" "" "" "China" "" "00174412" "" "" "" "1" "" "02528" "{PMID:Lei 2019:30689296}, {DOI:Lei 2019:10.1002/mgg3.584}" "" "" "" "" "" "0" "" "" "China" "" "00174413" "" "" "" "1" "" "02528" "{PMID:Lei 2019:30689296}, {DOI:Lei 2019:10.1002/mgg3.584}" "" "" "" "" "" "0" "" "" "China" "" "00174414" "" "" "" "1" "" "02528" "{PMID:Lei 2019:30689296}, {DOI:Lei 2019:10.1002/mgg3.584}" "" "" "" "" "" "0" "" "" "China" "" "00181146" "" "" "" "1" "" "02575" "" "" "F" "?" "" "" "0" "" "" "" "" "00208599" "" "" "" "3" "" "03131" "" "" "" "" "" "" "0" "" "" "" "Fam301" "00208600" "" "" "" "2" "" "03131" "" "" "" "" "" "" "0" "" "" "" "Fam110" "00453803" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV321" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 28 "{{individualid}}" "{{diseaseid}}" "00027179" "04167" "00165298" "00860" "00165300" "00860" "00165301" "00860" "00165302" "00860" "00165303" "00860" "00165304" "00860" "00165307" "00860" "00165308" "00860" "00165309" "00860" "00165310" "00860" "00165311" "00860" "00165312" "00860" "00174404" "00860" "00174405" "00860" "00174406" "00860" "00174407" "00860" "00174408" "00860" "00174409" "00860" "00174410" "00860" "00174411" "00860" "00174412" "00860" "00174413" "00860" "00174414" "00860" "00181146" "00198" "00208599" "05489" "00208600" "05489" "00453803" "00152" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00152, 00198, 00860, 04167, 05489 ## Count = 3 "{{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}}" "0000023250" "04167" "00027179" "00006" "Familial, autosomal dominant" "" "see paper; pure form of cerebellar ataxia" "" "" "" "" "" "" "" "" "" "" "" "0000143368" "00198" "00181146" "02575" "Familial, autosomal recessive" "" "Brain malformations, Anophthalmia unilateral(HP:0000528), Hepatomegaly (HP:0002240), Bile duct atresia, Agenesis of Mullerian duct" "" "" "" "" "" "" "" "" "" "" "" "0000342460" "00152" "00453803" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" ## Screenings ## Do not remove or alter this header ## ## Count = 29 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000027183" "00027179" "1" "00006" "00006" "2014-12-24 11:55:24" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000166176" "00165298" "1" "02528" "02528" "2018-07-06 20:48:34" "" "" "SEQ" "DNA" "" "" "0000166178" "00165300" "1" "02528" "02528" "2018-07-06 21:10:19" "" "" "SEQ" "DNA" "" "" "0000166179" "00165301" "1" "02528" "02528" "2018-07-06 21:25:54" "" "" "SEQ" "DNA" "" "" "0000166180" "00165302" "1" "02528" "02528" "2018-07-06 21:38:45" "" "" "SEQ" "DNA" "" "" "0000166181" "00165303" "1" "02528" "02528" "2018-07-06 21:42:38" "" "" "SEQ" "DNA" "" "" "0000166182" "00165304" "1" "02528" "02528" "2018-07-06 21:51:17" "" "" "SEQ-NG-I" "DNA" "" "" "0000166183" "00165305" "1" "02528" "02528" "2018-07-06 21:54:11" "" "" "SEQ-NG-I" "DNA" "" "" "0000166185" "00165307" "1" "02528" "02528" "2018-07-06 22:04:04" "" "" "SEQ-NG-I" "DNA" "" "" "0000166186" "00165308" "1" "02528" "02528" "2018-07-06 22:08:33" "" "" "SEQ-NG-I" "DNA" "" "" "0000166187" "00165309" "1" "02528" "02528" "2018-07-06 22:58:31" "" "" "SEQ-NG-I" "DNA" "" "" "0000166188" "00165310" "1" "02528" "02528" "2018-07-06 23:03:57" "" "" "SEQ-NG-I" "DNA" "" "" "0000166189" "00165311" "1" "02528" "02528" "2018-07-06 23:08:04" "" "" "SEQ-NG-I" "DNA" "" "" "0000166190" "00165312" "1" "02528" "02528" "2018-07-06 23:11:47" "" "" "SEQ-NG-I" "DNA" "" "" "0000175295" "00174404" "1" "02528" "02528" "2018-08-08 19:14:05" "" "" "SEQ-NG" "DNA" "" "" "0000175296" "00174405" "1" "02528" "02528" "2018-08-08 19:24:10" "" "" "SEQ-NG" "DNA" "" "" "0000175297" "00174406" "1" "02528" "02528" "2018-08-08 19:27:17" "" "" "SEQ-NG" "DNA" "" "" "0000175298" "00174407" "1" "02528" "02528" "2018-08-08 19:30:09" "" "" "SEQ-NG" "DNA" "" "" "0000175299" "00174408" "1" "02528" "02528" "2018-08-08 19:55:56" "" "" "SEQ-NG" "DNA" "" "" "0000175300" "00174409" "1" "02528" "02528" "2018-08-08 19:58:42" "" "" "SEQ-NG" "DNA" "" "" "0000175301" "00174410" "1" "02528" "02528" "2018-08-08 20:01:47" "" "" "SEQ-NG" "DNA" "" "" "0000175302" "00174411" "1" "02528" "02528" "2018-08-08 20:04:47" "" "" "SEQ-NG" "DNA" "" "" "0000175303" "00174412" "1" "02528" "02528" "2018-08-08 20:07:32" "" "" "SEQ-NG" "DNA" "" "" "0000175304" "00174413" "1" "02528" "02528" "2018-08-08 20:10:14" "" "" "SEQ-NG" "DNA" "" "" "0000175305" "00174414" "1" "02528" "02528" "2018-08-08 20:12:55" "" "" "SEQ-NG" "DNA" "" "" "0000182104" "00181146" "1" "02575" "02575" "2018-10-01 19:13:43" "" "" "SEQ-NG" "DNA" "" "" "0000209648" "00208599" "1" "03131" "03131" "2018-12-11 17:20:48" "" "" "SEQ-NG-I" "DNA" "Blood" "gene panel" "0000209649" "00208600" "1" "03131" "03131" "2018-12-11 20:17:35" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000455415" "00453803" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 26 "{{screeningid}}" "{{geneid}}" "0000027183" "ELOVL5" "0000166176" "PTK7" "0000166178" "PTK7" "0000166179" "PTK7" "0000166180" "PTK7" "0000166181" "PTK7" "0000166182" "PTK7" "0000166183" "PTK7" "0000166185" "PTK7" "0000166186" "PTK7" "0000166187" "PTK7" "0000166188" "PTK7" "0000166189" "PTK7" "0000166190" "PTK7" "0000175295" "PTK7" "0000175296" "PTK7" "0000175297" "PTK7" "0000175298" "PTK7" "0000175299" "PTK7" "0000175300" "PTK7" "0000175301" "PTK7" "0000175302" "PTK7" "0000175303" "PTK7" "0000175304" "PTK7" "0000175305" "PTK7" "0000182104" "PTK7" ## 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 = 40 "{{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}}" "0000050323" "1" "30" "6" "43099762" "43099762" "subst" "0.000902072" "00006" "PTK7_000001" "g.43099762A>G" "" "{PMID:Di Gregorio 2014:25065913}" "" "" "not conserved, not causative" "Germline" "" "" "0" "" "" "g.43132024A>G" "" "likely benign" "" "0000331032" "0" "30" "6" "43100425" "43100425" "subst" "0.0120204" "01804" "PTK7_000002" "g.43100425A>T" "" "" "" "PTK7(NM_001270398.1):c.1252A>T (p.(Thr418Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43132687A>T" "" "likely benign" "" "0000344598" "0" "50" "6" "43097978" "43097978" "subst" "3.50407E-5" "02327" "PTK7_000003" "g.43097978C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43130240C>G" "" "VUS" "" "0000371842" "0" "90" "6" "43098054" "43098054" "subst" "7.33586E-5" "02528" "PTK7_000004" "g.43098054C>T" "" "{PMID:Lei 2019:30689296}, {DOI:Lei 2019:10.1002/mgg3.584}" "" "" "" "Unknown" "" "" "0" "" "" "g.43130316C>T" "" "pathogenic" "" "0000371843" "0" "90" "6" "43109788" "43109788" "subst" "0" "02528" "PTK7_000005" "g.43109788C>A" "" "{PMID:Lei 2019:30689296}, {DOI:Lei 2019:10.1002/mgg3.584}" "" "" "" "Unknown" "" "" "0" "" "" "g.43142050C>A" "" "pathogenic" "" "0000371844" "0" "70" "6" "43111281" "43111281" "subst" "4.06481E-6" "02528" "PTK7_000007" "g.43111281A>T" "" "{PMID:Lei 2019:30689296}, {DOI:Lei 2019:10.1002/mgg3.584}" "" "" "" "Unknown" "" "" "0" "" "" "g.43143543A>T" "" "likely pathogenic" "" "0000371845" "0" "50" "6" "43098060" "43098060" "subst" "0.000252641" "02528" "PTK7_000006" "g.43098060G>A" "" "{PMID:Lei 2019:30689296}, {DOI:Lei 2019:10.1002/mgg3.584}" "" "" "" "Unknown" "" "" "0" "" "" "g.43130322G>A" "" "VUS" "" "0000371846" "0" "50" "6" "43099767" "43099767" "subst" "1.21886E-5" "02528" "PTK7_000009" "g.43099767C>T" "" "{PMID:Lei 2019:30689296}, {DOI:Lei 2019:10.1002/mgg3.584}" "" "" "" "Unknown" "" "" "0" "" "" "g.43132029C>T" "" "VUS" "" "0000371847" "0" "50" "6" "43099768" "43099768" "subst" "4.06332E-6" "02528" "PTK7_000010" "g.43099768G>A" "" "{PMID:Lei 2019:30689296}, {DOI:Lei 2019:10.1002/mgg3.584}" "" "" "" "Unknown" "" "" "0" "" "" "g.43132030G>A" "" "VUS" "" "0000371848" "0" "50" "6" "43100281" "43100281" "subst" "4.06921E-6" "02528" "PTK7_000011" "g.43100281C>T" "" "{PMID:Lei 2019:30689296}, {DOI:Lei 2019:10.1002/mgg3.584}" "" "" "" "Unknown" "" "" "0" "" "" "g.43132543C>T" "" "VUS" "" "0000371849" "0" "50" "6" "43109501" "43109501" "subst" "0" "02528" "PTK7_000008" "g.43109501G>A" "" "{PMID:Lei 2019:30689296}, {DOI:Lei 2019:10.1002/mgg3.584}" "" "" "" "Unknown" "" "" "0" "" "" "g.43141763G>A" "" "VUS" "" "0000371850" "0" "50" "6" "43111200" "43111200" "subst" "0.000366265" "02528" "PTK7_000012" "g.43111200C>G" "" "{PMID:Lei 2019:30689296}, {DOI:Lei 2019:10.1002/mgg3.584}" "" "" "" "Unknown" "" "" "0" "" "" "g.43143462C>G" "" "VUS" "" "0000371851" "0" "50" "6" "43112282" "43112282" "subst" "7.71755E-5" "02528" "PTK7_000013" "g.43112282G>T" "" "{PMID:Lei 2019:30689296}, {DOI:Lei 2019:10.1002/mgg3.584}" "" "" "" "Unknown" "" "" "0" "" "" "g.43144544G>T" "" "VUS" "" "0000371852" "0" "50" "6" "43112285" "43112285" "subst" "8.93568E-5" "02528" "PTK7_000014" "g.43112285A>G" "" "{PMID:Lei 2019:30689296}, {DOI:Lei 2019:10.1002/mgg3.584}" "" "" "" "Unknown" "" "" "0" "" "" "g.43144547A>G" "" "VUS" "" "0000371853" "0" "50" "6" "43112950" "43112950" "subst" "4.13798E-6" "02528" "PTK7_000015" "g.43112950T>C" "" "{PMID:Lei 2019:30689296}, {DOI:Lei 2019:10.1002/mgg3.584}" "" "" "" "Unknown" "" "" "0" "" "" "g.43145212T>C" "" "VUS" "" "0000371854" "0" "50" "6" "43128602" "43128602" "subst" "6.94155E-5" "02528" "PTK7_000016" "g.43128602G>A" "" "{PMID:Lei 2019:30689296}, {DOI:Lei 2019:10.1002/mgg3.584}" "" "" "" "Unknown" "" "" "0" "" "" "g.43160864G>A" "" "VUS" "" "0000395166" "0" "50" "6" "43096973" "43096973" "subst" "3.68855E-5" "02528" "PTK7_000017" "g.43096973G>A" "" "{PMID:Lei 2019:30689296}, {DOI:Lei 2019:10.1002/mgg3.584}" "" "" "" "Unknown" "" "" "0" "" "" "g.43129235G>A" "" "VUS" "" "0000395167" "0" "50" "6" "43096994" "43096994" "subst" "4.10684E-6" "02528" "PTK7_000018" "g.43096994A>G" "" "{PMID:Lei 2019:30689296}, {DOI:Lei 2019:10.1002/mgg3.584}" "" "" "" "Unknown" "" "" "0" "" "" "g.43129256A>G" "" "VUS" "" "0000395168" "0" "50" "6" "43100174" "43100174" "subst" "2.19981E-5" "02528" "PTK7_000019" "g.43100174C>T" "" "{PMID:Lei 2019:30689296}, {DOI:Lei 2019:10.1002/mgg3.584}" "" "" "" "Unknown" "" "" "0" "" "" "g.43132436C>T" "" "VUS" "" "0000395169" "0" "50" "6" "43109441" "43109441" "subst" "2.84264E-5" "02528" "PTK7_000020" "g.43109441G>A" "" "{PMID:Lei 2019:30689296}, {DOI:Lei 2019:10.1002/mgg3.584}" "" "" "" "Unknown" "" "" "0" "" "" "g.43141703G>A" "" "VUS" "" "0000395170" "0" "50" "6" "43109699" "43109699" "subst" "4.51223E-5" "02528" "PTK7_000021" "g.43109699G>A" "" "{PMID:Lei 2019:30689296}, {DOI:Lei 2019:10.1002/mgg3.584}" "" "" "" "Unknown" "" "" "0" "" "" "g.43141961G>A" "" "VUS" "" "0000395171" "0" "50" "6" "43111200" "43111200" "subst" "0.000366265" "02528" "PTK7_000012" "g.43111200C>G" "" "{PMID:Lei 2019:30689296}, {DOI:Lei 2019:10.1002/mgg3.584}" "" "" "" "Unknown" "" "" "0" "" "" "g.43143462C>G" "" "VUS" "" "0000395172" "0" "50" "6" "43112206" "43112206" "subst" "4.87349E-5" "02528" "PTK7_000022" "g.43112206G>A" "" "{PMID:Lei 2019:30689296}, {DOI:Lei 2019:10.1002/mgg3.584}" "" "" "" "Unknown" "" "" "0" "" "" "g.43144468G>A" "" "VUS" "" "0000395173" "0" "50" "6" "43112236" "43112236" "subst" "4.87345E-5" "02528" "PTK7_000023" "g.43112236G>A" "" "{PMID:Lei 2019:30689296}, {DOI:Lei 2019:10.1002/mgg3.584}" "" "" "" "Unknown" "" "" "0" "" "" "g.43144498G>A" "" "VUS" "" "0000395174" "0" "50" "6" "43112282" "43112282" "subst" "7.71755E-5" "02528" "PTK7_000013" "g.43112282G>T" "" "{PMID:Lei 2019:30689296}, {DOI:Lei 2019:10.1002/mgg3.584}" "" "" "" "Unknown" "" "" "0" "" "" "g.43144544G>T" "" "VUS" "" "0000395175" "0" "50" "6" "43112285" "43112285" "subst" "8.93568E-5" "02528" "PTK7_000014" "g.43112285A>G" "" "{PMID:Lei 2019:30689296}, {DOI:Lei 2019:10.1002/mgg3.584}" "" "" "" "Unknown" "" "" "0" "" "" "g.43144547A>G" "" "VUS" "" "0000395176" "0" "50" "6" "43128584" "43128584" "subst" "8.14491E-6" "02528" "PTK7_000024" "g.43128584G>A" "" "{PMID:Lei 2019:30689296}, {DOI:Lei 2019:10.1002/mgg3.584}" "" "" "" "Unknown" "" "" "0" "" "" "g.43160846G>A" "" "VUS" "" "0000405928" "0" "50" "6" "43044640" "43044640" "subst" "0.00651766" "02575" "PTK7_000026" "g.43044640G>A" "" "" "" "" "Variant is located in exon 1 of transcript NM_001270398.1 (c.19G>A)" "Germline" "?" "rs139636574" "0" "" "" "g.43076902G>A" "" "VUS" "" "0000405929" "0" "50" "6" "43100411" "43100411" "subst" "0.000290603" "02575" "PTK7_000025" "g.43100411A>G" "" "" "" "" "" "Germline" "?" "rs138575208" "0" "" "" "g.43132673A>G" "" "VUS" "" "0000439820" "0" "50" "6" "43112267" "43112267" "subst" "0.0470322" "03131" "PTK7_000027" "g.43112267C>T" "" "" "" "" "" "Germline" "yes" "rs34764696" "0" "" "" "g.43144529C>T" "" "VUS" "" "0000439830" "0" "50" "6" "43112267" "43112267" "subst" "0.0470322" "03131" "PTK7_000027" "g.43112267C>T" "" "" "" "" "" "Germline" "yes" "rs34764696" "0" "" "" "g.43144529C>T" "" "VUS" "" "0000860358" "0" "50" "6" "43111325" "43111325" "subst" "0" "01943" "PTK7_000028" "g.43111325G>T" "" "" "" "PTK7(NM_002821.5):c.2218G>T (p.E740*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995776" "0" "30" "6" "43044661" "43044661" "subst" "8.89004E-5" "01804" "KLC4_000003" "g.43044661C>T" "" "" "" "PTK7(NM_001270398.1):c.40C>T (p.(Pro14Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995777" "0" "30" "6" "43044707" "43044707" "subst" "0.00336959" "01804" "KLC4_000004" "g.43044707C>A" "" "" "" "PTK7(NM_001270398.1):c.86C>A (p.(Pro29His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995778" "0" "30" "6" "43100256" "43100256" "subst" "0.000231924" "01804" "PTK7_000029" "g.43100256C>G" "" "" "" "PTK7(NM_002821.4):c.1059C>G (p.(Ser353Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995779" "0" "30" "6" "43111325" "43111325" "subst" "1.22613E-5" "01804" "PTK7_000030" "g.43111325G>A" "" "" "" "PTK7(NM_002821.4):c.2218G>A (p.(Glu740Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995780" "0" "30" "6" "43112260" "43112260" "subst" "8.12341E-6" "01804" "PTK7_000031" "g.43112260G>A" "" "" "" "PTK7(NM_002821.4):c.2323G>A (p.(Gly775Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001007522" "0" "70" "6" "43096909" "43096909" "subst" "4.07037E-6" "00006" "PTK7_000032" "g.43096909C>T" "" "{PMID:Mansoorshahi 2024:39226896}" "" "NM_001270398.2:c.298C>T" "" "Germline" "" "rs374071426" "0" "" "" "g.43129171C>T" "" "VUS" "" "0001052362" "0" "50" "6" "43128534" "43128534" "subst" "0" "01804" "PTK7_000033" "g.43128534G>T" "" "" "" "PTK7(NM_002821.5):c.3128G>T (p.(Cys1043Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052363" "0" "50" "6" "43128534" "43128535" "delins" "0" "01804" "PTK7_000034" "g.43128534_43128535delinsTT" "" "" "" "PTK7(NM_002821.5):c.3128_3129delinsTT (p.(Cys1043Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 PTK7 ## Count = 40 "{{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}}" "0000050323" "00023998" "30" "821" "0" "821" "0" "c.821A>G" "r.(?)" "p.(His274Arg)" "6" "0000331032" "00023998" "30" "1228" "0" "1228" "0" "c.1228A>T" "r.(?)" "p.(Thr410Ser)" "" "0000344598" "00023998" "50" "481" "0" "481" "0" "c.481C>G" "r.(?)" "p.(Gln161Glu)" "" "0000371842" "00023998" "90" "557" "0" "557" "0" "c.557C>T" "r.(?)" "p.(Thr186Met)" "" "0000371843" "00023998" "90" "1888" "0" "1888" "0" "c.1888C>A" "r.(?)" "p.(Arg630Ser)" "" "0000371844" "00023998" "70" "2174" "0" "2174" "0" "c.2174A>T" "r.(?)" "p.(Tyr725Phe)" "" "0000371845" "00023998" "50" "563" "0" "563" "0" "c.563G>A" "r.(?)" "p.(Arg188Gln)" "" "0000371846" "00023998" "50" "826" "0" "826" "0" "c.826C>T" "r.(?)" "p.(Arg276Cys)" "" "0000371847" "00023998" "50" "827" "0" "827" "0" "c.827G>A" "r.(?)" "p.(Arg276His)" "" "0000371848" "00023998" "50" "1084" "0" "1084" "0" "c.1084C>T" "r.(?)" "p.(Arg362Trp)" "" "0000371849" "00023998" "50" "1714" "0" "1714" "0" "c.1714G>A" "r.(?)" "p.(Ala572Thr)" "" "0000371850" "00023998" "50" "2093" "0" "2093" "0" "c.2093C>G" "r.(?)" "p.(Pro698Arg)" "" "0000371851" "00023998" "50" "2345" "0" "2345" "0" "c.2345G>T" "r.(?)" "p.(Arg782Leu)" "" "0000371852" "00023998" "50" "2348" "0" "2348" "0" "c.2348A>G" "r.(?)" "p.(His783Arg)" "" "0000371853" "00023998" "50" "2420" "0" "2420" "0" "c.2420T>C" "r.(?)" "p.(Phe807Ser)" "" "0000371854" "00023998" "50" "3196" "0" "3196" "0" "c.3196G>A" "r.(?)" "p.(Val1066Met)" "" "0000395166" "00023998" "50" "338" "0" "338" "0" "c.338G>A" "r.(?)" "p.(Arg113His)" "" "0000395167" "00023998" "50" "359" "0" "359" "0" "c.359A>G" "r.(?)" "p.(Asn120Ser)" "" "0000395168" "00023998" "50" "977" "0" "977" "0" "c.977C>T" "r.(?)" "p.(Pro326Leu)" "" "0000395169" "00023998" "50" "1654" "0" "1654" "0" "c.1654G>A" "r.(?)" "p.(Ala552Thr)" "" "0000395170" "00023998" "50" "1799" "0" "1799" "0" "c.1799G>A" "r.(?)" "p.(Arg600His)" "" "0000395171" "00023998" "50" "2093" "0" "2093" "0" "c.2093C>G" "r.(?)" "p.(Pro698Arg)" "" "0000395172" "00023998" "50" "2269" "0" "2269" "0" "c.2269G>A" "r.(?)" "p.(Gly757Arg)" "" "0000395173" "00023998" "50" "2299" "0" "2299" "0" "c.2299G>A" "r.(?)" "p.(Val767Met)" "" "0000395174" "00023998" "50" "2345" "0" "2345" "0" "c.2345G>T" "r.(?)" "p.(Arg782Leu)" "" "0000395175" "00023998" "50" "2348" "0" "2348" "0" "c.2348A>G" "r.(?)" "p.(His783Arg)" "" "0000395176" "00023998" "50" "3178" "0" "3178" "0" "c.3178G>A" "r.(?)" "p.(Ala1060Thr)" "" "0000405928" "00023998" "50" "79" "335" "79" "335" "c.79+335G>A" "r.(?)" "p.(=)" "" "0000405929" "00023998" "50" "1214" "0" "1214" "0" "c.1214A>G" "r.(?)" "p.(Asn405Ser)" "" "0000439820" "00023998" "50" "2330" "0" "2330" "0" "c.2330C>T" "r.(?)" "p.(Ala777Val)" "" "0000439830" "00023998" "50" "2330" "0" "2330" "0" "c.2330C>T" "r.(?)" "p.(Ala777Val)" "" "0000860358" "00023998" "50" "2218" "0" "2218" "0" "c.2218G>T" "r.(?)" "p.(Glu740*)" "" "0000995776" "00023998" "30" "79" "356" "79" "356" "c.79+356C>T" "r.(=)" "p.(=)" "" "0000995777" "00023998" "30" "79" "402" "79" "402" "c.79+402C>A" "r.(=)" "p.(=)" "" "0000995778" "00023998" "30" "1059" "0" "1059" "0" "c.1059C>G" "r.(?)" "p.(Ser353Arg)" "" "0000995779" "00023998" "30" "2218" "0" "2218" "0" "c.2218G>A" "r.(?)" "p.(Glu740Lys)" "" "0000995780" "00023998" "30" "2323" "0" "2323" "0" "c.2323G>A" "r.(?)" "p.(Gly775Ser)" "" "0001007522" "00023998" "70" "274" "0" "274" "0" "c.274C>T" "r.(?)" "p.(Arg92Trp)" "" "0001052362" "00023998" "50" "3128" "0" "3128" "0" "c.3128G>T" "r.(?)" "p.(Cys1043Phe)" "" "0001052363" "00023998" "50" "3128" "0" "3129" "0" "c.3128_3129delinsTT" "r.(?)" "p.(Cys1043Phe)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 30 "{{screeningid}}" "{{variantid}}" "0000027183" "0000050323" "0000166176" "0000371842" "0000166178" "0000371843" "0000166179" "0000371844" "0000166180" "0000371845" "0000166181" "0000371846" "0000166182" "0000371847" "0000166183" "0000371848" "0000166185" "0000371849" "0000166186" "0000371850" "0000166187" "0000371851" "0000166188" "0000371852" "0000166189" "0000371853" "0000166190" "0000371854" "0000175295" "0000395166" "0000175296" "0000395167" "0000175297" "0000395168" "0000175298" "0000395169" "0000175299" "0000395170" "0000175300" "0000395171" "0000175301" "0000395172" "0000175302" "0000395173" "0000175303" "0000395174" "0000175304" "0000395175" "0000175305" "0000395176" "0000182104" "0000405928" "0000182104" "0000405929" "0000209648" "0000439820" "0000209649" "0000439830" "0000455415" "0001007522"