### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TCTN2) # 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}}" "TCTN2" "tectonic family member 2" "12" "q24.31" "unknown" "NC_000012.11" "UD_136094582612" "" "https://www.LOVD.nl/TCTN2" "" "1" "25774" "79867" "613846" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "http://databases.lovd.nl/shared/refseq/TCTN2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-01-20 16:36:12" "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}}" "00020930" "TCTN2" "transcript variant 1" "001" "NM_024809.4" "" "NP_079085.2" "" "" "" "-128" "2784" "2094" "124155660" "124192950" "" "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}}" "00002" "JBTS1" "Joubert syndrome, type 1 (JBTS1)" "AR" "213300" "" "" "" "00006" "2012-05-17 22:47:36" "00006" "2021-12-10 21:51:32" "00078" "MKS1" "Meckel syndrome, type 1 (MKS-1, Meckel-Gruber syndrome)" "AR" "249000" "" "" "" "00015" "2012-11-09 15:11:48" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00707" "MKS8" "Meckel syndrome, type 8 (MKS-8)" "AR" "613885" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05109" "JBTS" "Joubert syndrome (JBTS)" "" "" "" "" "" "00006" "2016-01-09 00:37:44" "" "" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" "05578" "MKS" "Meckel syndrome (MKS, Meckel-Gruber syndrome)" "" "" "" "" "" "00006" "2019-02-22 22:26:27" "00006" "2021-12-10 21:51:32" "06166" "JBTS24" "Joubert syndrome 24" "AR" "616654" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "TCTN2" "00707" "TCTN2" "05109" "TCTN2" "06166" ## Individuals ## Do not remove or alter this header ## ## Count = 27 "{{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}}" "00017626" "" "" "" "1" "" "00733" "" "" "M" "yes" "Turkey" "" "0" "" "" "" "" "00017798" "" "" "" "1" "" "00006" "{PMID:Sang 2011:21565611}" "4-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Turkey" "" "0" "" "" "" "" "00017799" "" "" "" "1" "" "00006" "{PMID:Sang 2011:21565611}" "1 affected, unaffected heterozygous carrier parents" "M" "yes" "India" "" "0" "" "" "India, east" "" "00017800" "" "" "" "4" "" "00006" "{PMID:Sang 2011:21565611}" "famiy, 4 affected siblings, unaffected heterozygous carrier parents" "-" "yes" "Pakistan" "" "0" "" "" "" "" "00056054" "" "" "" "1" "" "00552" "{PMID:Watson 2016:26729329}, {DOI:Watson 2016:10.1186/s12881-015-0265-z}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00056055" "" "" "" "1" "" "00552" "{PMID:Watson 2016:26729329}, {DOI:Watson 2016:10.1186/s12881-015-0265-z}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00056056" "" "" "" "1" "" "00552" "{PMID:Watson 2016:26729329}, {DOI:Watson 2016:10.1186/s12881-015-0265-z}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00056057" "" "" "" "1" "" "00552" "{PMID:Watson 2016:26729329}, {DOI:Watson 2016:10.1186/s12881-015-0265-z}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00225720" "" "" "" "1" "" "00006" "{PMID:Shaheen 2013:23169490}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "23169490-FamMKS_F4" "00225721" "" "" "" "1" "" "00006" "{PMID:Shaheen 2013:23169490}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "23169490-FamMKS_F9" "00290630" "" "" "" "15" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290631" "" "" "" "24" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00303054" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat99" "00304333" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00372317" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW144-3" "00372318" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW212-3" "00372319" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW225-3" "00372320" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW225-4" "00372321" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW225-8" "00372322" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW228-3" "00372323" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW266-3" "00387605" "" "" "" "1" "" "00000" "{PMID:Watson 2016:26729329}" "Shaheen R, 2011" "" "" "" "" "0" "" "" "" "" "00387606" "" "" "" "1" "" "00000" "{PMID:Watson 2016:26729329}" "Shaheen R, 2011" "" "" "" "" "0" "" "" "" "" "00387607" "" "" "" "1" "" "00000" "{PMID:Watson 2016:26729329}" "Shaheen R, 2011" "" "" "" "" "0" "" "" "" "" "00387608" "" "" "" "1" "" "00000" "{PMID:Watson 2016:26729329}" "Shaheen R, 2011" "" "" "" "" "0" "" "" "" "" "00391593" "" "" "" "1" "" "02494" "" "" "M" "no" "Spain" "" "" "" "" "" "024P" "00430484" "" "" "" "1" "" "03375" "" "" "M" "no" "Japan" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 27 "{{individualid}}" "{{diseaseid}}" "00017626" "00002" "00017798" "00002" "00017799" "00002" "00017800" "00002" "00056054" "05109" "00056055" "00078" "00056056" "00078" "00056057" "00078" "00225720" "05578" "00225721" "05578" "00290630" "00198" "00290631" "00198" "00303054" "05521" "00304333" "00198" "00372317" "05109" "00372318" "05109" "00372319" "05109" "00372320" "05109" "00372321" "05109" "00372322" "05109" "00372323" "05109" "00387605" "04214" "00387606" "04214" "00387607" "04214" "00387608" "04214" "00391593" "00198" "00430484" "06166" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00002, 00078, 00198, 00707, 04214, 05109, 05521, 05578, 06166 ## Count = 23 "{{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}}" "0000016134" "00002" "00017798" "00006" "Isolated (sporadic)" "06y" "cerebellar vermis aplasia, hypotonia, no evidence renal disease" "" "" "" "" "" "" "" "" "" "" "" "0000016135" "00002" "00017799" "00006" "Isolated (sporadic)" "" "gross motor/communication delays, increased tone/reflexes, bilateral talipes equinovarus deformity (clubfeet); 15m no evidence cardiovascular/renal/liver disease (ultrasound, laboratory testing, brain MRI revealed molar tooth sign" "" "" "" "" "" "" "" "" "" "" "" "0000016136" "00002" "00017800" "00006" "Familial, autosomal recessive" "" "all 4 childhood-onset Joubert Syndrome, extremely poor learning abilities; brain MRI molar tooth sign" "" "" "" "" "" "" "" "" "" "" "" "0000016160" "00002" "00017626" "00733" "Familial, autosomal recessive" "00y00m" "Polydactyly, postaxial; Delayed psychomotor development; hypotonia; frontally pronounced polymicrogyria, cerebellar hypoplasia and myelinisation defects; nystagmus and hyperopia; ´molar tooth sign´; ataxia" "" "" "" "" "" "" "" "" "" "" "" "0000043065" "00078" "00056057" "00006" "Unknown" "" "Meckel-Gruber syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000043069" "00078" "00056056" "00006" "Unknown" "" "Meckel-Gruber syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000043070" "00078" "00056055" "00006" "Unknown" "" "Meckel-Gruber syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000043071" "05109" "00056054" "00006" "Unknown" "" "Joubert syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000170829" "05578" "00225720" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MKS-8" "Meckel-Gruber syndrome" "" "0000170830" "05578" "00225721" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MKS-8" "Meckel-Gruber syndrome" "" "0000230137" "05521" "00303054" "00006" "Familial, autosomal recessive" "" "Unclassified epilepsy; age onset unknown" "" "" "" "" "" "" "" "" "" "seizures" "" "0000267638" "05109" "00372317" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267639" "05109" "00372318" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267640" "05109" "00372319" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267641" "05109" "00372320" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267642" "05109" "00372321" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267643" "05109" "00372322" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267644" "05109" "00372323" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000281168" "04214" "00387605" "00000" "Familial" "" "" "7y" "" "" "" "" "" "" "" "" "Meckel-Gruber and Joubert syndrome" "" "0000281169" "04214" "00387606" "00000" "Familial" "" "" "8y" "" "" "" "" "" "" "" "" "Meckel-Gruber and Joubert syndrome" "" "0000281170" "04214" "00387607" "00000" "Familial" "" "" "9y" "" "" "" "" "" "" "" "" "Meckel-Gruber and Joubert syndrome" "" "0000281171" "04214" "00387608" "00000" "Familial" "" "" "10y" "" "" "" "" "" "" "" "" "Meckel-Gruber and Joubert syndrome" "" "0000321281" "06166" "00430484" "03375" "Isolated (sporadic)" "08y" "Developmental delay, dysmorphic facial features and polydactyly, retinal dystrophy, exotropia, abnormal pattern of respiration, and periventricular heterotopia" "" "08y" "hiraide" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 27 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000017609" "00017626" "1" "00733" "00733" "2014-06-26 12:39:34" "" "" "SEQ-NG" "DNA" "" "" "0000017780" "00017798" "1" "00006" "00006" "2014-06-28 23:11:26" "" "" "arraySNP;RT-PCR;SEQ" "DNA;RNA" "" "" "0000017781" "00017799" "1" "00006" "00006" "2014-06-28 23:21:37" "" "" "SEQ" "DNA" "" "" "0000017782" "00017800" "1" "00006" "00006" "2014-06-28 23:27:37" "" "" "SEQ" "DNA" "" "" "0000056009" "00056054" "1" "00552" "00552" "2015-12-08 16:59:38" "" "" "SEQ-NG" "DNA" "" "" "0000056010" "00056055" "1" "00552" "00552" "2015-12-08 17:01:28" "" "" "SEQ-NG" "DNA" "" "" "0000056011" "00056056" "1" "00552" "00552" "2015-12-08 17:02:37" "" "" "SEQ-NG" "DNA" "" "" "0000056012" "00056057" "1" "00552" "00552" "2015-12-08 17:04:13" "" "" "SEQ-NG" "DNA" "" "" "0000226787" "00225720" "1" "00006" "00006" "2019-02-22 23:45:34" "" "" "SEQ" "DNA" "" "WES" "0000226788" "00225721" "1" "00006" "00006" "2019-02-22 23:48:42" "" "" "SEQ" "DNA" "" "" "0000291798" "00290630" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291799" "00290631" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000304179" "00303054" "1" "00006" "00006" "2020-06-05 14:08:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000305462" "00304333" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000373546" "00372317" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373547" "00372318" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373548" "00372319" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373549" "00372320" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373550" "00372321" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373551" "00372322" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373552" "00372323" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000388831" "00387605" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ-NG;PCR" "DNA" "blood" "" "0000388832" "00387606" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ-NG;PCR" "DNA" "blood" "" "0000388833" "00387607" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ-NG;PCR" "DNA" "blood" "" "0000388834" "00387608" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ-NG;PCR" "DNA" "blood" "" "0000392835" "00391593" "1" "02494" "02494" "2021-11-18 12:31:35" "" "" "SEQ-NG" "DNA" "" "WES" "0000431893" "00430484" "1" "03375" "03375" "2023-01-20 13:55:27" "" "" "RT-PCR;SEQ-NG;SEQ-NG-RNA" "DNA;RNA" "blood leukocytes, urinary cells" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{geneid}}" "0000017609" "TCTN2" "0000017780" "TCTN2" "0000017781" "TCTN2" "0000017782" "TCTN2" "0000226787" "TCTN2" "0000226788" "TCTN2" "0000304179" "TCTN2" "0000373546" "TCTN2" "0000373547" "TCTN2" "0000373548" "TCTN2" "0000373549" "TCTN2" "0000373550" "TCTN2" "0000373551" "TCTN2" "0000373552" "TCTN2" "0000388831" "TCTN2" "0000388832" "TCTN2" "0000388833" "TCTN2" "0000388834" "TCTN2" "0000431893" "TCTN2" ## 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 = 92 "{{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}}" "0000037627" "3" "90" "12" "124179766" "124179766" "subst" "0" "00733" "TCTN2_000001" "g.124179766G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.123695219G>A" "" "pathogenic" "" "0000037933" "3" "90" "12" "124179766" "124179766" "subst" "0" "00006" "TCTN2_000001" "g.124179766G>A" "" "{PMID:Sang 2011:21565611}" "" "IVS10-1G>A" "homozygosity mapping; not in 352 control chromosomes" "Germline" "yes" "" "0" "" "" "g.123695219G>A" "" "pathogenic" "" "0000037934" "3" "90" "12" "124155864" "124155864" "dup" "0" "00006" "TCTN2_000002" "g.124155864dup" "" "{PMID:Sang 2011:21565611}" "" "c.77insG (D26GfsX51)" "" "Germline" "yes" "" "0" "" "" "g.123671317dup" "" "pathogenic" "" "0000037935" "3" "90" "12" "124191376" "124191376" "subst" "0" "00006" "TCTN2_000003" "g.124191376C>T" "" "{PMID:Sang 2011:21565611}" "" "C1873T" "" "Germline" "yes" "" "0" "" "" "g.123706829C>T" "" "pathogenic" "" "0000086047" "1" "90" "12" "124184249" "124184249" "subst" "1.62669E-5" "00552" "TCTN2_000004" "g.124184249A>G" "" "{PMID:Watson 2016:26729329}, {DOI:Watson 2016:10.1186/s12881-015-0265-z}" "" "" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.123699702A>G" "" "pathogenic" "" "0000086048" "3" "90" "12" "124184249" "124184249" "subst" "1.62669E-5" "00552" "TCTN2_000004" "g.124184249A>G" "" "{PMID:Watson 2016:26729329}, {DOI:Watson 2016:10.1186/s12881-015-0265-z}" "" "" "" "Germline" "" "" "0" "" "" "g.123699702A>G" "" "pathogenic" "" "0000086049" "3" "90" "12" "124184249" "124184249" "subst" "1.62669E-5" "00552" "TCTN2_000004" "g.124184249A>G" "" "{PMID:Watson 2016:26729329}, {DOI:Watson 2016:10.1186/s12881-015-0265-z}" "" "" "" "Germline" "" "" "0" "" "" "g.123699702A>G" "" "pathogenic" "" "0000086050" "3" "90" "12" "124184249" "124184249" "subst" "1.62669E-5" "00552" "TCTN2_000004" "g.124184249A>G" "" "{PMID:Watson 2016:26729329}, {DOI:Watson 2016:10.1186/s12881-015-0265-z}" "" "" "" "Germline" "" "" "0" "" "" "g.123699702A>G" "" "pathogenic" "" "0000253462" "0" "10" "12" "124172706" "124172706" "subst" "0.0296359" "01943" "TCTN2_000011" "g.124172706A>G" "" "" "" "TCTN2(NM_024809.4):c.873A>G (p.A291=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123688159A>G" "" "benign" "" "0000259699" "0" "50" "12" "124197138" "124197138" "subst" "0" "02325" "ATP6V0A2_000001" "g.124197138C>T" "" "" "" "ATP6V0A2(NM_012463.4):c.26C>T (p.T9I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123712591C>T" "" "VUS" "" "0000263298" "0" "10" "12" "124197243" "124197243" "subst" "0.00137823" "01943" "ATP6V0A2_000002" "g.124197243G>A" "" "" "" "ATP6V0A2(NM_012463.3):c.117+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123712696G>A" "" "benign" "" "0000311772" "0" "10" "12" "124177289" "124177289" "subst" "0.413483" "02325" "TCTN2_000014" "g.124177289T>C" "" "" "" "TCTN2(NM_024809.4):c.1099+19T>C, TCTN2(NM_024809.5):c.1099+19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123692742T>C" "" "benign" "" "0000311773" "0" "10" "12" "124179417" "124179417" "subst" "0.42333" "02325" "TCTN2_000015" "g.124179417T>C" "" "" "" "TCTN2(NM_024809.4):c.1128T>C (p.P376=), TCTN2(NM_024809.5):c.1128T>C (p.P376=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123694870T>C" "" "benign" "" "0000311774" "0" "10" "12" "124181049" "124181049" "subst" "0.317839" "02325" "TCTN2_000017" "g.124181049C>T" "" "" "" "TCTN2(NM_024809.4):c.1393+7C>T, TCTN2(NM_024809.5):c.1393+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123696502C>T" "" "benign" "" "0000311775" "0" "10" "12" "124172731" "124172731" "subst" "0.347453" "02325" "TCTN2_000012" "g.124172731G>A" "" "" "" "TCTN2(NM_024809.4):c.891+7G>A, TCTN2(NM_024809.5):c.891+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123688184G>A" "" "benign" "" "0000314483" "0" "30" "12" "124171417" "124171417" "subst" "0.00946124" "02326" "TCTN2_000008" "g.124171417G>A" "" "" "" "TCTN2(NM_024809.4):c.599G>A (p.R200Q), TCTN2(NM_024809.5):c.599G>A (p.R200Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123686870G>A" "" "likely benign" "" "0000316388" "0" "10" "12" "124177289" "124177289" "subst" "0.413483" "01943" "TCTN2_000014" "g.124177289T>C" "" "" "" "TCTN2(NM_024809.4):c.1099+19T>C, TCTN2(NM_024809.5):c.1099+19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123692742T>C" "" "benign" "" "0000316389" "0" "10" "12" "124179417" "124179417" "subst" "0.42333" "01943" "TCTN2_000015" "g.124179417T>C" "" "" "" "TCTN2(NM_024809.4):c.1128T>C (p.P376=), TCTN2(NM_024809.5):c.1128T>C (p.P376=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123694870T>C" "" "benign" "" "0000316390" "0" "10" "12" "124181049" "124181049" "subst" "0.317839" "01943" "TCTN2_000017" "g.124181049C>T" "" "" "" "TCTN2(NM_024809.4):c.1393+7C>T, TCTN2(NM_024809.5):c.1393+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123696502C>T" "" "benign" "" "0000316391" "0" "30" "12" "124184324" "124184324" "subst" "1.62503E-5" "01943" "TCTN2_000018" "g.124184324G>A" "" "" "" "TCTN2(NM_024809.4):c.1579G>A (p.A527T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123699777G>A" "" "likely benign" "" "0000316392" "0" "30" "12" "124189109" "124189109" "subst" "0.00057498" "01943" "TCTN2_000019" "g.124189109C>T" "" "" "" "TCTN2(NM_024809.4):c.1643C>T (p.P548L), TCTN2(NM_024809.5):c.1643C>T (p.P548L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123704562C>T" "" "likely benign" "" "0000316393" "0" "30" "12" "124156154" "124156154" "subst" "0" "01943" "TCTN2_000006" "g.124156154C>T" "" "" "" "TCTN2(NM_024809.4):c.183C>T (p.D61=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123671607C>T" "" "likely benign" "" "0000316394" "0" "30" "12" "124192207" "124192207" "subst" "0.0144507" "01943" "TCTN2_000020" "g.124192207T>C" "" "" "" "TCTN2(NM_024809.4):c.2041T>C (p.L681=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123707660T>C" "" "likely benign" "" "0000316395" "0" "10" "12" "124156637" "124156637" "subst" "0.0303488" "01943" "TCTN2_000007" "g.124156637C>T" "" "" "" "TCTN2(NM_024809.4):c.225C>T (p.N75=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123672090C>T" "" "benign" "" "0000316396" "0" "30" "12" "124171417" "124171417" "subst" "0.00946124" "01943" "TCTN2_000008" "g.124171417G>A" "" "" "" "TCTN2(NM_024809.4):c.599G>A (p.R200Q), TCTN2(NM_024809.5):c.599G>A (p.R200Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123686870G>A" "" "likely benign" "" "0000316397" "0" "30" "12" "124171487" "124171487" "subst" "7.30905E-5" "01943" "TCTN2_000009" "g.124171487G>A" "" "" "" "TCTN2(NM_024809.4):c.669G>A (p.T223=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123686940G>A" "" "likely benign" "" "0000316398" "0" "30" "12" "124172643" "124172643" "subst" "0.00373174" "01943" "TCTN2_000010" "g.124172643C>T" "" "" "" "TCTN2(NM_024809.4):c.810C>T (p.D270=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123688096C>T" "" "likely benign" "" "0000316399" "0" "10" "12" "124156050" "124156050" "subst" "0.0303258" "01943" "TCTN2_000005" "g.124156050C>T" "" "" "" "TCTN2(NM_024809.4):c.83-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123671503C>T" "" "benign" "" "0000316400" "0" "10" "12" "124172731" "124172731" "subst" "0.347453" "01943" "TCTN2_000012" "g.124172731G>A" "" "" "" "TCTN2(NM_024809.4):c.891+7G>A, TCTN2(NM_024809.5):c.891+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123688184G>A" "" "benign" "" "0000316401" "0" "30" "12" "124175086" "124175086" "subst" "0.0144522" "01943" "TCTN2_000013" "g.124175086C>T" "" "" "" "TCTN2(NM_024809.4):c.898C>T (p.L300=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123690539C>T" "" "likely benign" "" "0000347682" "0" "70" "12" "124197114" "124197114" "subst" "0" "02327" "ATP6V0A2_000034" "g.124197114T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123712567T>C" "" "likely pathogenic" "" "0000459817" "3" "90" "12" "124184249" "124184249" "subst" "1.62669E-5" "00006" "TCTN2_000004" "g.124184249A>G" "" "{PMID:Shaheen 2013:23169490}" "" "" "" "Germline" "" "" "0" "" "" "g.123699702A>G" "" "pathogenic (recessive)" "" "0000459818" "3" "90" "12" "124184249" "124184249" "subst" "1.62669E-5" "00006" "TCTN2_000004" "g.124184249A>G" "" "{PMID:Shaheen 2013:23169490}" "" "" "" "Germline" "" "" "0" "" "" "g.123699702A>G" "" "pathogenic (recessive)" "" "0000546933" "0" "30" "12" "124171433" "124171433" "subst" "0.000665941" "01943" "TCTN2_000021" "g.124171433C>T" "" "" "" "TCTN2(NM_024809.4):c.615C>T (p.G205=), TCTN2(NM_024809.5):c.615C>T (p.(Gly205=), p.G205=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123686886C>T" "" "likely benign" "" "0000546935" "0" "30" "12" "124175203" "124175203" "subst" "0.000162471" "01804" "TCTN2_000022" "g.124175203A>G" "" "" "" "TCTN2(NM_001143850.2):c.1012A>G (p.(Lys338Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123690656A>G" "" "likely benign" "" "0000546936" "0" "30" "12" "124184347" "124184347" "subst" "1.62608E-5" "01943" "TCTN2_000023" "g.124184347C>T" "" "" "" "TCTN2(NM_024809.4):c.1602C>T (p.L534=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123699800C>T" "" "likely benign" "" "0000546938" "0" "10" "12" "124197099" "124197099" "subst" "0.320616" "01943" "ATP6V0A2_000035" "g.124197099C>T" "" "" "" "ATP6V0A2(NM_012463.3):c.-14C>T, ATP6V0A2(NM_012463.4):c.-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123712552C>T" "" "benign" "" "0000546939" "0" "10" "12" "124197099" "124197099" "subst" "0.320616" "02327" "ATP6V0A2_000035" "g.124197099C>T" "" "" "" "ATP6V0A2(NM_012463.3):c.-14C>T, ATP6V0A2(NM_012463.4):c.-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123712552C>T" "" "benign" "" "0000546940" "0" "10" "12" "124197099" "124197099" "subst" "0.320616" "02325" "ATP6V0A2_000035" "g.124197099C>T" "" "" "" "ATP6V0A2(NM_012463.3):c.-14C>T, ATP6V0A2(NM_012463.4):c.-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123712552C>T" "" "benign" "" "0000622794" "0" "50" "12" "124171489" "124171489" "subst" "4.06058E-5" "01943" "TCTN2_000024" "g.124171489C>T" "" "" "" "TCTN2(NM_024809.4):c.671C>T (p.T224M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123686942C>T" "" "VUS" "" "0000622795" "0" "50" "12" "124172609" "124172609" "subst" "0.000556327" "01943" "TCTN2_000025" "g.124172609A>G" "" "" "" "TCTN2(NM_024809.4):c.776A>G (p.Q259R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123688062A>G" "" "VUS" "" "0000648487" "1" "30" "12" "124171417" "124171417" "subst" "0.00946124" "03575" "TCTN2_000008" "g.124171417G>A" "15/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "15 heterozygous; {DB:CLININrs79251326}" "Germline" "" "rs79251326" "0" "" "" "g.123686870G>A" "" "likely benign" "" "0000648488" "1" "10" "12" "124184369" "124184369" "subst" "0.0141643" "03575" "TCTN2_000026" "g.124184369C>T" "24/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "24 heterozygous, no homozygous; {DB:CLININrs117614122}" "Germline" "" "rs117614122" "0" "" "" "g.123699822C>T" "" "benign" "" "0000667577" "3" "70" "12" "124179526" "124179526" "subst" "0" "00006" "TCTN2_000027" "g.124179526A>T" "" "{PMID:Helbig 2016:26795593}" "" "" "has VUS in UNC45B" "Germline" "" "" "0" "" "" "g.123694979A>T" "" "likely pathogenic (recessive)" "ACMG" "0000669150" "3" "30" "12" "124171417" "124171417" "subst" "0.00946124" "03575" "TCTN2_000008" "g.124171417G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs79251326}" "Germline" "" "rs79251326" "0" "" "" "g.123686870G>A" "" "likely benign" "" "0000679422" "0" "30" "12" "124156614" "124156614" "subst" "0.000389813" "01943" "TCTN2_000028" "g.124156614A>G" "" "" "" "TCTN2(NM_024809.4):c.202A>G (p.I68V), TCTN2(NM_024809.5):c.202A>G (p.I68V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691270" "0" "50" "12" "124158198" "124158198" "subst" "0" "01943" "TCTN2_000029" "g.124158198C>A" "" "" "" "TCTN2(NM_024809.4):c.304C>A (p.L102M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691271" "0" "30" "12" "124171429" "124171429" "subst" "0" "01943" "TCTN2_000030" "g.124171429C>T" "" "" "" "TCTN2(NM_024809.4):c.611C>T (p.T204I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691272" "0" "50" "12" "124179439" "124179439" "subst" "0.000219423" "01943" "TCTN2_000031" "g.124179439C>T" "" "" "" "TCTN2(NM_024809.4):c.1150C>T (p.H384Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723888" "0" "50" "12" "124171486" "124171486" "subst" "0.000718723" "01943" "TCTN2_000032" "g.124171486C>T" "" "" "" "TCTN2(NM_024809.4):c.668C>T (p.T223M), TCTN2(NM_024809.5):c.668C>T (p.(Thr223Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723889" "0" "50" "12" "124177214" "124177214" "subst" "2.03046E-5" "01943" "TCTN2_000033" "g.124177214C>T" "" "" "" "TCTN2(NM_024809.4):c.1043C>T (p.T348I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723890" "0" "30" "12" "124191351" "124191351" "subst" "5.2788E-5" "01943" "TCTN2_000034" "g.124191351C>T" "" "" "" "TCTN2(NM_024809.4):c.1848C>T (p.S616=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000783526" "1" "90" "12" "124179406" "124179406" "subst" "8.12453E-6" "00000" "TCTN2_000038" "g.124179406G>A" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_024809.4:c.1117G>A" "" "Germline" "" "" "0" "" "" "g.123694859G>A" "" "pathogenic" "" "0000783527" "1" "90" "12" "124189092" "124189092" "del" "4.09829E-6" "00000" "TCTN2_000040" "g.124189092del" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_024809.4:c.1626delT" "" "Germline" "" "" "0" "" "" "g.123704545del" "" "pathogenic" "" "0000783528" "3" "90" "12" "124189217" "124189217" "subst" "2.03034E-5" "00000" "TCTN2_000041" "g.124189217T>A" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_024809.4:c.1751T>A" "" "Germline" "" "" "0" "" "" "g.123704670T>A" "" "pathogenic" "" "0000783529" "3" "90" "12" "124189217" "124189217" "subst" "2.03034E-5" "00000" "TCTN2_000041" "g.124189217T>A" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_024809.4:c.1751T>A" "" "Germline" "" "" "0" "" "" "g.123704670T>A" "" "pathogenic" "" "0000783530" "3" "90" "12" "124189217" "124189217" "subst" "2.03034E-5" "00000" "TCTN2_000041" "g.124189217T>A" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_024809.4:c.1751T>A" "" "Germline" "" "" "0" "" "" "g.123704670T>A" "" "pathogenic" "" "0000783531" "3" "90" "12" "124179823" "124179823" "subst" "0" "00000" "TCTN2_000039" "g.124179823G>T" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_024809.4:c.1291G>T" "" "Germline" "" "" "0" "" "" "g.123695276G>T" "" "pathogenic" "" "0000783532" "3" "90" "12" "124155863" "124155863" "dup" "0" "00000" "TCTN2_000035" "g.124155863dup" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_024809.4:c.76dupG" "" "Germline" "" "" "0" "" "" "g.123671316dup" "" "pathogenic" "" "0000783722" "2" "90" "12" "124155863" "124155863" "del" "0" "00000" "TCTN2_000036" "g.124155863del" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_024809.4:c.71delG" "" "Germline" "" "" "0" "" "" "g.123671316del" "" "pathogenic" "" "0000783723" "2" "90" "12" "124171431" "124171431" "subst" "4.87274E-5" "00000" "TCTN2_000037" "g.124171431G>T" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_024809.4:c.613G>T" "" "Germline" "" "" "0" "" "" "g.123686884G>T" "" "pathogenic" "" "0000805571" "0" "30" "12" "124158176" "124158176" "subst" "6.49699E-5" "01943" "TCTN2_000042" "g.124158176G>C" "" "" "" "TCTN2(NM_024809.4):c.282G>C (p.V94=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805572" "0" "30" "12" "124171433" "124171433" "subst" "0.000665941" "02326" "TCTN2_000021" "g.124171433C>T" "" "" "" "TCTN2(NM_024809.4):c.615C>T (p.G205=), TCTN2(NM_024809.5):c.615C>T (p.(Gly205=), p.G205=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805573" "0" "30" "12" "124171538" "124171538" "subst" "0.00257853" "01943" "TCTN2_000043" "g.124171538C>G" "" "" "" "TCTN2(NM_024809.4):c.720C>G (p.P240=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805574" "0" "30" "12" "124181012" "124181012" "subst" "0" "01943" "TCTN2_000044" "g.124181012A>G" "" "" "" "TCTN2(NM_024809.4):c.1363A>G (p.N455D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000817597" "0" "90" "12" "124184249" "124184249" "subst" "1.62669E-5" "00000" "TCTN2_000004" "g.124184249A>G" "" "{PMID:Watson 2016:26729329}" "" "c.1506-2A>G (p.?)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000817598" "0" "90" "12" "124184249" "124184249" "subst" "1.62669E-5" "00000" "TCTN2_000004" "g.124184249A>G" "" "{PMID:Watson 2016:26729329}" "" "c.1506-2A>G (p.?)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000817599" "0" "90" "12" "124184249" "124184249" "subst" "1.62669E-5" "00000" "TCTN2_000004" "g.124184249A>G" "" "{PMID:Watson 2016:26729329}" "" "c.1506-2A>G (p.?)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000817600" "0" "90" "12" "124184249" "124184249" "subst" "1.62669E-5" "00000" "TCTN2_000004" "g.124184249A>G" "" "{PMID:Watson 2016:26729329}" "" "c.1506-2A>G (p.?)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000817601" "0" "90" "12" "124184249" "124184249" "subst" "1.62669E-5" "00000" "TCTN2_000004" "g.124184249A>G" "" "{PMID:Watson 2016:26729329}" "" "c.1506-2A>G (p.?)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000817602" "0" "90" "12" "124184249" "124184249" "subst" "1.62669E-5" "00000" "TCTN2_000004" "g.124184249A>G" "" "{PMID:Watson 2016:26729329}" "" "c.1506-2A>G (p.?)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000817603" "0" "90" "12" "124184249" "124184249" "subst" "1.62669E-5" "00000" "TCTN2_000004" "g.124184249A>G" "" "{PMID:Watson 2016:26729329}" "" "c.1506-2A>G (p.?)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000823300" "11" "50" "12" "124156063" "124156063" "subst" "4.06177E-6" "02494" "TCTN2_000046" "g.124156063C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000823301" "0" "70" "12" "124172633" "124172634" "del" "0" "02494" "TCTN2_000045" "g.124172633_124172634del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.123688086_123688087del" "" "likely pathogenic (recessive)" "" "0000853296" "0" "90" "12" "124180967" "124180967" "subst" "0" "01943" "TCTN2_000047" "g.124180967C>T" "" "" "" "TCTN2(NM_024809.4):c.1318C>T (p.Q440*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000853297" "0" "30" "12" "124181748" "124181748" "subst" "0.000905834" "02326" "TCTN2_000048" "g.124181748G>C" "" "" "" "TCTN2(NM_024809.5):c.1505+3G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862888" "0" "90" "12" "124155863" "124155863" "del" "0" "01943" "TCTN2_000036" "g.124155863del" "" "" "" "TCTN2(NM_024809.4):c.76delG (p.D26Tfs*27)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000890370" "0" "30" "12" "124156614" "124156614" "subst" "0.000389813" "02326" "TCTN2_000028" "g.124156614A>G" "" "" "" "TCTN2(NM_024809.4):c.202A>G (p.I68V), TCTN2(NM_024809.5):c.202A>G (p.I68V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890371" "0" "30" "12" "124189109" "124189109" "subst" "0.00057498" "02326" "TCTN2_000019" "g.124189109C>T" "" "" "" "TCTN2(NM_024809.4):c.1643C>T (p.P548L), TCTN2(NM_024809.5):c.1643C>T (p.P548L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890372" "0" "30" "12" "124192139" "124192139" "subst" "0.000500554" "02326" "ATP6V0A2_000057" "g.124192139A>G" "" "" "" "TCTN2(NM_024809.5):c.1985-12A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913784" "0" "30" "12" "124191327" "124191327" "subst" "2.43637E-5" "02326" "TCTN2_000049" "g.124191327C>T" "" "" "" "TCTN2(NM_024809.5):c.1824C>T (p.A608=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000917195" "21" "70" "12" "124175104" "124175104" "subst" "0" "03375" "TCTN2_000050" "g.124175104C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.123690557C>T" "" "pathogenic (recessive)" "ACMG" "0000917196" "11" "70" "12" "124175644" "124175644" "subst" "0" "03375" "TCTN2_000051" "g.124175644G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.123691097G>A" "" "likely pathogenic (recessive)" "ACMG" "0000925578" "0" "30" "12" "124184330" "124184330" "subst" "0.000905974" "02326" "TCTN2_000052" "g.124184330C>G" "" "" "" "TCTN2(NM_024809.5):c.1585C>G (p.L529V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949884" "0" "70" "12" "124179766" "124179766" "subst" "0" "02326" "TCTN2_000001" "g.124179766G>A" "" "" "" "TCTN2(NM_024809.5):c.1235-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000980107" "0" "50" "12" "124155863" "124155863" "subst" "9.41304E-5" "01804" "TCTN2_000053" "g.124155863G>T" "" "" "" "TCTN2(NM_024809.5):c.76G>T (p.(Asp26Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980108" "0" "30" "12" "124171433" "124171433" "subst" "0.000665941" "01804" "TCTN2_000021" "g.124171433C>T" "" "" "" "TCTN2(NM_024809.4):c.615C>T (p.G205=), TCTN2(NM_024809.5):c.615C>T (p.(Gly205=), p.G205=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980109" "0" "30" "12" "124189072" "124189072" "del" "0" "01804" "TCTN2_000054" "g.124189072del" "" "" "" "TCTN2(NM_024809.5):c.1613-7del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980110" "0" "50" "12" "124191316" "124191316" "subst" "8.5273E-5" "01804" "TCTN2_000055" "g.124191316G>A" "" "" "" "TCTN2(NM_024809.5):c.1813G>A (p.(Glu605Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039054" "0" "50" "12" "124171389" "124171389" "subst" "0.000300498" "01804" "TCTN2_000056" "g.124171389T>G" "" "" "" "TCTN2(NM_024809.5):c.571T>G (p.(Ser191Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039055" "0" "30" "12" "124171486" "124171486" "subst" "0.000718723" "01804" "TCTN2_000032" "g.124171486C>T" "" "" "" "TCTN2(NM_024809.4):c.668C>T (p.T223M), TCTN2(NM_024809.5):c.668C>T (p.(Thr223Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039056" "0" "50" "12" "124184296" "124184296" "subst" "0" "01804" "TCTN2_000057" "g.124184296C>G" "" "" "" "TCTN2(NM_024809.5):c.1551C>G (p.(His517Gln))" "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 TCTN2 ## Count = 92 "{{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}}" "0000037627" "00020930" "90" "1235" "-1" "1235" "-1" "c.1235-1G>A" "r.spl?" "p.?" "10i" "0000037933" "00020930" "90" "1235" "-1" "1235" "-1" "c.1235-1G>A" "r.1235_1312del" "p.Ile413_Gly438del" "10i" "0000037934" "00020930" "90" "77" "0" "77" "0" "c.77dup" "r.(?)" "p.(Asp26Glufs*52)" "1" "0000037935" "00020930" "90" "1873" "0" "1873" "0" "c.1873C>T" "r.(?)" "p.(Gln625*)" "16" "0000086047" "00020930" "90" "1506" "-2" "1506" "-2" "c.1506-2A>G" "r.spl" "p.?" "13i" "0000086048" "00020930" "90" "1506" "-2" "1506" "-2" "c.1506-2A>G" "r.spl?" "p.?" "13i" "0000086049" "00020930" "90" "1506" "-2" "1506" "-2" "c.1506-2A>G" "r.spl?" "p.?" "13i" "0000086050" "00020930" "90" "1506" "-2" "1506" "-2" "c.1506-2A>G" "r.spl?" "p.?" "13i" "0000253462" "00020930" "10" "873" "0" "873" "0" "c.873A>G" "r.(?)" "p.(Ala291=)" "" "0000259699" "00020930" "50" "6972" "0" "6972" "0" "c.*4878C>T" "r.(=)" "p.(=)" "" "0000263298" "00020930" "10" "7077" "0" "7077" "0" "c.*4983G>A" "r.(=)" "p.(=)" "" "0000311772" "00020930" "10" "1099" "19" "1099" "19" "c.1099+19T>C" "r.(=)" "p.(=)" "" "0000311773" "00020930" "10" "1128" "0" "1128" "0" "c.1128T>C" "r.(?)" "p.(Pro376=)" "" "0000311774" "00020930" "10" "1393" "7" "1393" "7" "c.1393+7C>T" "r.(=)" "p.(=)" "" "0000311775" "00020930" "10" "891" "7" "891" "7" "c.891+7G>A" "r.(=)" "p.(=)" "" "0000314483" "00020930" "30" "599" "0" "599" "0" "c.599G>A" "r.(?)" "p.(Arg200Gln)" "" "0000316388" "00020930" "10" "1099" "19" "1099" "19" "c.1099+19T>C" "r.(=)" "p.(=)" "" "0000316389" "00020930" "10" "1128" "0" "1128" "0" "c.1128T>C" "r.(?)" "p.(Pro376=)" "" "0000316390" "00020930" "10" "1393" "7" "1393" "7" "c.1393+7C>T" "r.(=)" "p.(=)" "" "0000316391" "00020930" "30" "1579" "0" "1579" "0" "c.1579G>A" "r.(?)" "p.(Ala527Thr)" "" "0000316392" "00020930" "30" "1643" "0" "1643" "0" "c.1643C>T" "r.(?)" "p.(Pro548Leu)" "" "0000316393" "00020930" "30" "183" "0" "183" "0" "c.183C>T" "r.(?)" "p.(Asp61=)" "" "0000316394" "00020930" "30" "2041" "0" "2041" "0" "c.2041T>C" "r.(?)" "p.(Leu681=)" "" "0000316395" "00020930" "10" "225" "0" "225" "0" "c.225C>T" "r.(?)" "p.(Asn75=)" "" "0000316396" "00020930" "30" "599" "0" "599" "0" "c.599G>A" "r.(?)" "p.(Arg200Gln)" "" "0000316397" "00020930" "30" "669" "0" "669" "0" "c.669G>A" "r.(?)" "p.(Thr223=)" "" "0000316398" "00020930" "30" "810" "0" "810" "0" "c.810C>T" "r.(?)" "p.(Asp270=)" "" "0000316399" "00020930" "10" "83" "-4" "83" "-4" "c.83-4C>T" "r.spl?" "p.?" "" "0000316400" "00020930" "10" "891" "7" "891" "7" "c.891+7G>A" "r.(=)" "p.(=)" "" "0000316401" "00020930" "30" "898" "0" "898" "0" "c.898C>T" "r.(?)" "p.(Leu300=)" "" "0000347682" "00020930" "70" "6948" "0" "6948" "0" "c.*4854T>C" "r.(=)" "p.(=)" "" "0000459817" "00020930" "90" "1506" "-2" "1506" "-2" "c.1506-2A>G" "r.spl" "p.?" "" "0000459818" "00020930" "90" "1506" "-2" "1506" "-2" "c.1506-2A>G" "r.spl" "p.?" "" "0000546933" "00020930" "30" "615" "0" "615" "0" "c.615C>T" "r.(?)" "p.(Gly205=)" "" "0000546935" "00020930" "30" "1015" "0" "1015" "0" "c.1015A>G" "r.(?)" "p.(Lys339Glu)" "" "0000546936" "00020930" "30" "1602" "0" "1602" "0" "c.1602C>T" "r.(?)" "p.(Leu534=)" "" "0000546938" "00020930" "10" "6933" "0" "6933" "0" "c.*4839C>T" "r.(=)" "p.(=)" "" "0000546939" "00020930" "10" "6933" "0" "6933" "0" "c.*4839C>T" "r.(=)" "p.(=)" "" "0000546940" "00020930" "10" "6933" "0" "6933" "0" "c.*4839C>T" "r.(=)" "p.(=)" "" "0000622794" "00020930" "50" "671" "0" "671" "0" "c.671C>T" "r.(?)" "p.(Thr224Met)" "" "0000622795" "00020930" "50" "776" "0" "776" "0" "c.776A>G" "r.(?)" "p.(Gln259Arg)" "" "0000648487" "00020930" "30" "599" "0" "599" "0" "c.599G>A" "r.(?)" "p.(Arg200Gln)" "" "0000648488" "00020930" "10" "1612" "12" "1612" "12" "c.1612+12C>T" "r.(=)" "p.(=)" "" "0000667577" "00020930" "70" "1234" "3" "1234" "3" "c.1234+3A>T" "r.spl" "p.?" "" "0000669150" "00020930" "30" "599" "0" "599" "0" "c.599G>A" "r.(?)" "p.(Arg200Gln)" "" "0000679422" "00020930" "30" "202" "0" "202" "0" "c.202A>G" "r.(?)" "p.(Ile68Val)" "" "0000691270" "00020930" "50" "304" "0" "304" "0" "c.304C>A" "r.(?)" "p.(Leu102Met)" "" "0000691271" "00020930" "30" "611" "0" "611" "0" "c.611C>T" "r.(?)" "p.(Thr204Ile)" "" "0000691272" "00020930" "50" "1150" "0" "1150" "0" "c.1150C>T" "r.(?)" "p.(His384Tyr)" "" "0000723888" "00020930" "50" "668" "0" "668" "0" "c.668C>T" "r.(?)" "p.(Thr223Met)" "" "0000723889" "00020930" "50" "1043" "0" "1043" "0" "c.1043C>T" "r.(?)" "p.(Thr348Ile)" "" "0000723890" "00020930" "30" "1848" "0" "1848" "0" "c.1848C>T" "r.(?)" "p.(Ser616=)" "" "0000783526" "00020930" "90" "1117" "0" "1117" "0" "c.1117G>A" "r.(?)" "p.(Gly373Arg)" "" "0000783527" "00020930" "90" "1626" "0" "1626" "0" "c.1626del" "r.(?)" "p.(Asp543Ilefs*11)" "" "0000783528" "00020930" "90" "1751" "0" "1751" "0" "c.1751T>A" "r.(?)" "p.(Ile584Lys)" "" "0000783529" "00020930" "90" "1751" "0" "1751" "0" "c.1751T>A" "r.(?)" "p.(Ile584Lys)" "" "0000783530" "00020930" "90" "1751" "0" "1751" "0" "c.1751T>A" "r.(?)" "p.(Ile584Lys)" "" "0000783531" "00020930" "90" "1291" "0" "1291" "0" "c.1291G>T" "r.(?)" "p.(Glu431*)" "" "0000783532" "00020930" "90" "76" "0" "76" "0" "c.76dup" "r.(?)" "p.(Asp26Glyfs*52)" "" "0000783722" "00020930" "90" "76" "0" "76" "0" "c.76del" "r.(?)" "p.(Asp26Thrfs*27)" "" "0000783723" "00020930" "90" "613" "0" "613" "0" "c.613G>T" "r.(?)" "p.(Gly205Cys)" "" "0000805571" "00020930" "30" "282" "0" "282" "0" "c.282G>C" "r.(?)" "p.(Val94=)" "" "0000805572" "00020930" "30" "615" "0" "615" "0" "c.615C>T" "r.(?)" "p.(Gly205=)" "" "0000805573" "00020930" "30" "720" "0" "720" "0" "c.720C>G" "r.(?)" "p.(Pro240=)" "" "0000805574" "00020930" "30" "1363" "0" "1363" "0" "c.1363A>G" "r.(?)" "p.(Asn455Asp)" "" "0000817597" "00020930" "90" "1506" "-2" "1506" "-2" "c.1506-2A>G" "r.spl?" "p.?" "13i" "0000817598" "00020930" "90" "1506" "-2" "1506" "-2" "c.1506-2A>G" "r.spl?" "p.?" "13i" "0000817599" "00020930" "90" "1506" "-2" "1506" "-2" "c.1506-2A>G" "r.spl?" "p.?" "13i" "0000817600" "00020930" "90" "1506" "-2" "1506" "-2" "c.1506-2A>G" "r.spl?" "p.?" "13i" "0000817601" "00020930" "90" "1506" "-2" "1506" "-2" "c.1506-2A>G" "r.spl?" "p.?" "13i" "0000817602" "00020930" "90" "1506" "-2" "1506" "-2" "c.1506-2A>G" "r.spl?" "p.?" "13i" "0000817603" "00020930" "90" "1506" "-2" "1506" "-2" "c.1506-2A>G" "r.spl?" "p.?" "13i" "0000823300" "00020930" "50" "92" "0" "92" "0" "c.92C>G" "r.(?)" "p.(Pro31Arg)" "" "0000823301" "00020930" "70" "800" "0" "801" "0" "c.800_801del" "r.(?)" "p.(Val267Glyfs*3)" "" "0000853296" "00020930" "90" "1318" "0" "1318" "0" "c.1318C>T" "r.(?)" "p.(Gln440*)" "" "0000853297" "00020930" "30" "1505" "3" "1505" "3" "c.1505+3G>C" "r.spl?" "p.?" "" "0000862888" "00020930" "90" "76" "0" "76" "0" "c.76del" "r.(?)" "p.(Asp26Thrfs*27)" "" "0000890370" "00020930" "30" "202" "0" "202" "0" "c.202A>G" "r.(?)" "p.(Ile68Val)" "" "0000890371" "00020930" "30" "1643" "0" "1643" "0" "c.1643C>T" "r.(?)" "p.(Pro548Leu)" "" "0000890372" "00020930" "30" "1985" "-12" "1985" "-12" "c.1985-12A>G" "r.(=)" "p.(=)" "" "0000913784" "00020930" "30" "1824" "0" "1824" "0" "c.1824C>T" "r.(?)" "p.(Ala608=)" "" "0000917195" "00020930" "70" "916" "0" "916" "0" "c.916C>T" "r.0?" "p.(Gln306Ter)" "" "0000917196" "00020930" "70" "1033" "423" "1033" "423" "c.1033+423G>A" "r.1033_1034ins1033+240_1033+337" "p.Ile346Trpfs*6" "" "0000925578" "00020930" "30" "1585" "0" "1585" "0" "c.1585C>G" "r.(?)" "p.(Leu529Val)" "" "0000949884" "00020930" "70" "1235" "-1" "1235" "-1" "c.1235-1G>A" "r.spl?" "p.?" "" "0000980107" "00020930" "50" "76" "0" "76" "0" "c.76G>T" "r.(?)" "p.(Asp26Tyr)" "" "0000980108" "00020930" "30" "615" "0" "615" "0" "c.615C>T" "r.(?)" "p.(Gly205=)" "" "0000980109" "00020930" "30" "1613" "-7" "1613" "-7" "c.1613-7del" "r.(=)" "p.(=)" "" "0000980110" "00020930" "50" "1813" "0" "1813" "0" "c.1813G>A" "r.(?)" "p.(Glu605Lys)" "" "0001039054" "00020930" "50" "571" "0" "571" "0" "c.571T>G" "r.(?)" "p.(Ser191Ala)" "" "0001039055" "00020930" "30" "668" "0" "668" "0" "c.668C>T" "r.(?)" "p.(Thr223Met)" "" "0001039056" "00020930" "50" "1551" "0" "1551" "0" "c.1551C>G" "r.(?)" "p.(His517Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 34 "{{screeningid}}" "{{variantid}}" "0000017609" "0000037627" "0000017780" "0000037933" "0000017781" "0000037934" "0000017782" "0000037935" "0000056009" "0000086047" "0000056010" "0000086048" "0000056011" "0000086049" "0000056012" "0000086050" "0000226787" "0000459817" "0000226788" "0000459818" "0000291798" "0000648487" "0000291799" "0000648488" "0000304179" "0000667577" "0000305462" "0000669150" "0000373546" "0000783526" "0000373546" "0000783722" "0000373547" "0000783527" "0000373547" "0000783723" "0000373548" "0000783528" "0000373549" "0000783529" "0000373550" "0000783530" "0000373551" "0000783531" "0000373552" "0000783532" "0000388831" "0000817597" "0000388832" "0000817598" "0000388832" "0000817599" "0000388833" "0000817600" "0000388833" "0000817601" "0000388834" "0000817602" "0000388834" "0000817603" "0000392835" "0000823300" "0000392835" "0000823301" "0000431893" "0000917195" "0000431893" "0000917196"