### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TUBGCP2) # 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}}" "TUBGCP2" "tubulin, gamma complex associated protein 2" "10" "q26.3" "unknown" "NC_000010.10" "UD_136019289210" "" "https://www.LOVD.nl/TUBGCP2" "" "1" "18599" "10844" "0" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/TUBGCP2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-10-23 19:51:17" "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}}" "00022142" "TUBGCP2" "transcript variant 1" "004" "NM_001256617.1" "" "NP_001243546.1" "" "" "" "-373" "3929" "2793" "135122660" "135092134" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00058" "CORD" "dystrophy, cone-rod (CORD)" "" "" "" "" "" "00006" "2012-09-22 11:31:25" "00006" "2020-08-30 09:43:59" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "06101" "PAMDDFS" "Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures" "AR" "618737" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TUBGCP2" "06101" ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00050476" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected sibling(s)" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00266386" "" "" "" "2" "" "00006" "{PMID:Milani 2019:31630790}" "2-generation family, 2 affected (2M), unaffected heterozygous carrier parents/relatives" "M" "yes" "United States" "" "0" "" "" "" "Fam1PatVI5" "00266387" "" "" "00266386" "1" "" "00006" "{PMID:Milani 2019:31630790}" "" "M" "yes" "United States" "" "0" "" "" "" "Fam1PatV1" "00266388" "" "" "" "1" "" "00006" "{PMID:Milani 2019:31630790}" "2-generation family, 1 affected (F), unaffected heterozygous carrier parents" "F" "" "United States" "" "0" "" "" "" "Fam2PattII3" "00266389" "" "" "" "1" "" "00006" "{PMID:Milani 2019:31630790}" "2-generation family, 1 affected (F), unaffected heterozygous carrier parents" "F" "yes" "" "" "0" "" "" "" "Fam3PatII2" "00266390" "" "" "" "1" "" "00006" "{PMID:Milani 2019:31630790}" "2-generation family, 1 affected (F), unaffected heterozygous carrier parents/relative" "F" "" "" "" "0" "" "" "" "Fam4PatII1" "00326002" "" "" "" "3" "" "03849" "{PMID:Roosing 2014: 25018096}, {DOI:Roosing 2014: 10.1016/j.ajhg.2014.06.012}" "2-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents" "F" "no" "Turkey" ">16y" "0" "" "" "" "FamAPatII1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00050476" "00198" "00266386" "00198" "00266387" "00198" "00266388" "00198" "00266389" "00198" "00266390" "00198" "00326002" "00058" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00058, 00198, 06101 ## Count = 7 "{{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}}" "0000037088" "00198" "00050476" "00006" "Unknown" "" "clinodactyly of the 5th finger, specific learning disability, joint hypermobility, lumbar hyperlordosis, gingival overgrowth" "" "" "" "" "" "" "" "" "" "" "" "0000204155" "00198" "00266386" "00006" "Familial, autosomal recessive" "6y5m" "born at term; OFC birth 32.5 (SD-1.8); OFC 44.5 (SD-5.0); narrow forehead, upslanting palpebral fissures, thick eyebrows, bulbous nose, prominent ear, smooth philtrum, thin upper lip, widened and separated teeth; truncal hypotonia; no spasticity; myopia; normal auditory; delayed motor skills; delayed language; autistic features; 6y9m-onset generalized seizures; 6y6m-EEG continuous slow background activity and frequent multifocal epileptiform discharges; 21m-MRI brain pachygyria, thin corpus callosum, mild cerebellar volume loss" "" "" "" "" "" "" "" "" "" "microcephaly, DD, pachygyria" "" "0000204156" "00198" "00266387" "00006" "Familial, autosomal recessive" "7y5m" "born at term; OFC birth (SD-2.1); OFC 44 (SD-5.5); narrow forehead, bulbous nose, prominent ear, smooth philtrum, retrognathia; no truncal hypotonia; no spasticity; normal motor skills; difficulty in reading; no autistic features; no seizures; 6m-MRI brain pachygyria" "" "" "" "" "" "" "" "" "" "lissencephaly" "" "0000204157" "00198" "00266388" "00006" "Familial, autosomal recessive" "" "born 31w; OFC birth 25 (SD-2.0); short and sloped forehead, thick eyebrows, puffy eyelids, full lips, retromicrognathia; truncal hypotonia; brisk reflexes; spasticity; cortical blindness; normal auditory; severely delayed motor skills; severely delayed language; no autistic features; 5m-onset generalized seizures; abnormal EEG; 5m-MRI brain pachygyria, subcortical band, subependymal heterotopia, multiple subependymal cysts, delayed myelination, thincorpus callosum and brainstem" "" "" "" "" "" "" "" "" "" "lissencephaly" "" "0000204158" "00198" "00266389" "00006" "Familial, autosomal recessive" "1y3m" "born 27w; OFC birth 21 (SD-2.3); OFC 34 (SD-9.0); bitemporal narrowing, upslanting palpebral fissure, synophrys, micrognathia, midfacial hypoplasia, prominent lower lip, prominent ears; truncal hypotonia; no spasticity; optic atrophy, retinal changes; passed auditory brainstem response test; severely delayed motor skills; severely delayed language; no autistic features; 7m-onset generalized seizures; EEG frequent epileptiform discharges; 1y-MRI brain pachygyria, subcortical band, subependymal cysts, periventricular leukomalacia, thin corpus callosum, thin brainstem" "" "" "" "" "" "" "" "" "" "lissencephaly" "" "0000204159" "00198" "00266390" "00006" "Familial, autosomal recessive" "4y" "born at term; OFC birth 35 (SD+0.4); OFC 46 (SD-4.0); smooth philtrum, prominent ears; no truncal hypotonia; normal reflexes; no spasticity; myopia, astigmatism; normal auditory; delayed motor skills; delayed language; no autistic features; generalized seizures; EEG paroxysmal epileptiform activity localized to central area; 8y-MRI brain pachygyria, delayed myelination, thin corpus callosum" "" "" "" "" "" "" "" "" "" "lissencephaly" "" "0000244571" "00058" "00326002" "03849" "Familial, autosomal recessive" "" "reduced visual acuity (HP:0007663), nystagmus (HP:0000639), 9y-absent cone function" "09y" "" "reduced visual acuity (HP:0007663), nystagmus (HP:0000639), 9y-absent cone function" "" "" "" "" "" "CORD20" "cone-rod dystrophy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050421" "00050476" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000267512" "00266386" "1" "00006" "00006" "2019-10-25 13:06:56" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "WES" "0000267513" "00266387" "1" "00006" "00006" "2019-10-25 13:06:56" "" "" "SEQ" "DNA" "" "" "0000267514" "00266388" "1" "00006" "00006" "2019-10-25 13:06:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000267515" "00266389" "1" "00006" "00006" "2019-10-25 13:06:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000267516" "00266390" "1" "00006" "00006" "2019-10-25 13:06:56" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA" "" "WES" "0000327212" "00326002" "1" "03849" "03849" "2021-01-06 16:36:05" "" "" "SEQ" "DNA" "blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000267512" "TUBGCP2" "0000267513" "TUBGCP2" "0000267514" "TUBGCP2" "0000267515" "TUBGCP2" "0000267516" "TUBGCP2" "0000327212" "POC1B" ## 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 = 36 "{{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}}" "0000079401" "0" "90" "10" "123150811" "135380935" "dup" "0" "00006" "ACADSB_000015" "g.123150811_135380935dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "increased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000321824" "0" "50" "10" "135106172" "135106172" "subst" "0.00124906" "01804" "TUBGCP2_000002" "g.135106172C>T" "" "" "" "TUBGCP2(NM_001256617.1):c.1129G>A (p.(Glu377Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133292668C>T" "" "VUS" "" "0000321825" "0" "50" "10" "135113012" "135113012" "subst" "8.13716E-6" "01804" "TUBGCP2_000003" "g.135113012C>T" "" "" "" "TUBGCP2(NM_001256617.1):c.375G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133299508C>T" "" "VUS" "" "0000539564" "0" "30" "10" "135103325" "135103326" "ins" "0" "01943" "TUBGCP2_000004" "g.135103325_135103326insGG" "" "" "" "TUBGCP2(NM_001256617.1):c.1444+2_1444+3insCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133289821_133289822insGG" "" "likely benign" "" "0000598572" "3" "90" "10" "135106570" "135106570" "subst" "0.000390555" "00006" "TUBGCP2_000007" "g.135106570G>A" "" "{PMID:Milani 2019:31630790}" "NM_006659.3:c.997C>T" "" "" "Germline" "yes" "" "0" "" "" "g.133293066G>A" "" "pathogenic (recessive)" "" "0000598573" "3" "90" "10" "135106570" "135106570" "subst" "0.000390555" "00006" "TUBGCP2_000007" "g.135106570G>A" "" "{PMID:Milani 2019:31630790}" "NM_006659.3:c.997C>T" "" "" "Germline" "yes" "" "0" "" "" "g.133293066G>A" "" "pathogenic (recessive)" "" "0000598574" "3" "90" "10" "135099012" "135099012" "subst" "4.09829E-6" "00006" "TUBGCP2_000006" "g.135099012C>G" "" "{PMID:Milani 2019:31630790}" "NM_006659.3:c.1843G>C" "" "" "Germline" "" "" "0" "" "" "g.133285508C>G" "" "pathogenic (recessive)" "" "0000598575" "3" "90" "10" "135099012" "135099012" "subst" "4.09829E-6" "00006" "TUBGCP2_000006" "g.135099012C>G" "" "{PMID:Milani 2019:31630790}" "NM_006659.3:c.1843G>C" "" "" "Germline" "" "" "0" "" "" "g.133285508C>G" "" "pathogenic (recessive)" "" "0000598576" "11" "90" "10" "135106678" "135106678" "subst" "9.35522E-5" "00006" "TUBGCP2_000008" "g.135106678G>A" "" "{PMID:Milani 2019:31630790}" "NM_006659.3:c.889C>T" "" "" "Germline" "" "" "0" "" "" "g.133293174G>A" "" "pathogenic (recessive)" "" "0000598577" "21" "90" "10" "135097508" "135097508" "subst" "0" "00006" "TUBGCP2_000005" "g.135097508T>C" "" "{PMID:Milani 2019:31630790}" "NM_006659.3:c.2025-2A>G" "" "" "Germline" "" "" "0" "" "" "g.133284004T>C" "" "pathogenic (recessive)" "" "0000678806" "0" "30" "10" "135106550" "135106550" "subst" "0.00261778" "01943" "TUBGCP2_000009" "g.135106550G>A" "" "" "" "TUBGCP2(NM_001256617.1):c.1101C>T (p.A367=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690685" "0" "30" "10" "135106137" "135106137" "subst" "0.0027977" "01943" "TUBGCP2_000010" "g.135106137G>A" "" "" "" "TUBGCP2(NM_001256617.1):c.1164C>T (p.H388=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000711010" "1" "70" "10" "135106153" "135106153" "subst" "0.000370413" "00006" "TUBGCP2_000011" "g.135106153G>A" "" "{PMID:Roosing 2014:25018096}, {DOI:Roosing 2014:10.1016/j.ajhg.2014.06.012}" "" "NM_006659.3:c.1064C>T" "" "Germline" "no" "" "0" "" "" "" "" "VUS" "" "0000711011" "2" "70" "10" "135113596" "135113596" "subst" "0.000150337" "00006" "TUBGCP2_000012" "g.135113596G>A" "" "{PMID:Roosing 2014:25018096}, {DOI:Roosing 2014:10.1016/j.ajhg.2014.06.012}" "" "" "" "Germline" "no" "" "0" "" "" "" "" "VUS" "" "0000722749" "0" "90" "10" "135106194" "135106194" "subst" "0" "01943" "TUBGCP2_000013" "g.135106194T>C" "" "" "" "TUBGCP2(NM_001256617.1):c.1109-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000804352" "0" "30" "10" "135107170" "135107170" "subst" "0.00111657" "01943" "TUBGCP2_000014" "g.135107170C>T" "" "" "" "TUBGCP2(NM_001256617.1):c.804G>A (p.G268=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804353" "0" "30" "10" "135111452" "135111452" "subst" "0.00076649" "01943" "TUBGCP2_000015" "g.135111452G>A" "" "" "" "TUBGCP2(NM_001256617.1):c.616+4C>T, TUBGCP2(NM_006659.4):c.616+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861864" "0" "30" "10" "135099053" "135099053" "subst" "0.00119376" "01943" "TUBGCP2_000016" "g.135099053G>A" "" "" "" "TUBGCP2(NM_001256617.1):c.1886C>T (p.A629V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861865" "0" "30" "10" "135101769" "135101769" "subst" "0" "01943" "TUBGCP2_000017" "g.135101769A>G" "" "" "" "TUBGCP2(NM_001256617.1):c.1670T>C (p.V557A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913247" "0" "70" "10" "135099134" "135099134" "subst" "5.9775E-6" "02327" "TUBGCP2_000018" "g.135099134T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000965670" "0" "50" "10" "135094872" "135094872" "subst" "0" "02325" "ADAM8_000003" "g.135094872G>C" "" "" "" "TUBGCP2(NM_001256617.2):c.2562C>G (p.D854E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965671" "0" "50" "10" "135106072" "135106072" "subst" "0.000881712" "02325" "TUBGCP2_000019" "g.135106072G>A" "" "" "" "TUBGCP2(NM_001256617.2):c.1229C>T (p.A410V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978972" "0" "30" "10" "135093287" "135093287" "subst" "0.0011066" "01804" "ADAM8_000004" "g.135093287C>T" "" "" "" "TUBGCP2(NM_006659.4):c.2692G>A (p.(Ala898Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978973" "0" "50" "10" "135106570" "135106570" "subst" "0.000390555" "01804" "TUBGCP2_000007" "g.135106570G>A" "" "" "" "TUBGCP2(NM_006659.4):c.997C>T (p.(Arg333Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978974" "0" "30" "10" "135111452" "135111452" "subst" "0.00076649" "01804" "TUBGCP2_000015" "g.135111452G>A" "" "" "" "TUBGCP2(NM_001256617.1):c.616+4C>T, TUBGCP2(NM_006659.4):c.616+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978975" "0" "30" "10" "135122319" "135122319" "subst" "0" "01804" "TUBGCP2_000020" "g.135122319G>C" "" "" "" "TUBGCP2(NM_006659.4):c.-40+8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978976" "0" "50" "10" "135122328" "135122328" "subst" "0" "01804" "TUBGCP2_000021" "g.135122328G>C" "" "" "" "TUBGCP2(NM_006659.4):c.-41C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014609" "0" "50" "10" "135099000" "135099000" "subst" "1.22425E-5" "02325" "TUBGCP2_000022" "g.135099000C>T" "" "" "" "TUBGCP2(NM_001256617.2):c.1939G>A (p.D647N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037811" "0" "50" "10" "135093381" "135093381" "subst" "3.79577E-5" "01804" "ADAM8_000006" "g.135093381C>T" "" "" "" "TUBGCP2(NM_006659.4):c.2598G>A (p.(Thr866=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037812" "0" "50" "10" "135106102" "135106102" "subst" "0.000292597" "01804" "TUBGCP2_000023" "g.135106102G>A" "" "" "" "TUBGCP2(NM_006659.4):c.1115C>T (p.(Ala372Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037813" "0" "50" "10" "135106153" "135106153" "subst" "0.000370413" "01804" "TUBGCP2_000011" "g.135106153G>A" "" "" "" "TUBGCP2(NM_006659.4):c.1064C>T (p.(Thr355Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037814" "0" "30" "10" "135106539" "135106539" "subst" "0.000399912" "02325" "TUBGCP2_000024" "g.135106539G>A" "" "" "" "TUBGCP2(NM_001256617.2):c.1108+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037815" "0" "50" "10" "135107144" "135107144" "subst" "0" "01804" "TUBGCP2_000025" "g.135107144T>A" "" "" "" "TUBGCP2(NM_006659.4):c.746A>T (p.(Asp249Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037816" "0" "50" "10" "135107211" "135107211" "subst" "2.18497E-5" "01804" "TUBGCP2_000026" "g.135107211C>T" "" "" "" "TUBGCP2(NM_006659.4):c.679G>A (p.(Gly227Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037817" "0" "50" "10" "135107255" "135107255" "subst" "0.000128115" "01804" "TUBGCP2_000027" "g.135107255G>A" "" "" "" "TUBGCP2(NM_006659.4):c.635C>T (p.(Ser212Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037818" "0" "30" "10" "135112923" "135112923" "subst" "0" "01804" "TUBGCP2_000028" "g.135112923C>T" "" "" "" "TUBGCP2(NM_006659.4):c.456+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes TUBGCP2 ## Count = 36 "{{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}}" "0000079401" "00022142" "00" "-258648" "0" "8388607" "0" "c.-258648_*11942459dup" "" "" "" "0000321824" "00022142" "50" "1129" "0" "1129" "0" "c.1129G>A" "r.(?)" "p.(Glu377Lys)" "" "0000321825" "00022142" "50" "375" "0" "375" "0" "c.375G>A" "r.(?)" "p.(Ala125=)" "" "0000539564" "00022142" "30" "1444" "2" "1444" "3" "c.1444+2_1444+3insCC" "r.spl?" "p.?" "" "0000598572" "00022142" "90" "1081" "0" "1081" "0" "c.1081C>T" "r.(?)" "p.(Arg361Cys)" "" "0000598573" "00022142" "90" "1081" "0" "1081" "0" "c.1081C>T" "r.(?)" "p.(Arg361Cys)" "" "0000598574" "00022142" "90" "1927" "0" "1927" "0" "c.1927G>C" "r.(?)" "p.(Ala643Pro)" "" "0000598575" "00022142" "90" "1927" "0" "1927" "0" "c.1927G>C" "r.(?)" "p.(Ala643Pro)" "" "0000598576" "00022142" "90" "973" "0" "973" "0" "c.973C>T" "r.(?)" "p.(Arg325Cys)" "" "0000598577" "00022142" "90" "2109" "-2" "2109" "-2" "c.2109-2A>G" "r.[2108_2109ins[2109-215_2109-3;gg],2108_2109ins[2109-176_2109-3;gg],?]" "p.?" "" "0000678806" "00022142" "30" "1101" "0" "1101" "0" "c.1101C>T" "r.(?)" "p.(Ala367=)" "" "0000690685" "00022142" "30" "1164" "0" "1164" "0" "c.1164C>T" "r.(?)" "p.(His388=)" "" "0000711010" "00022142" "70" "1148" "0" "1148" "0" "c.1148C>T" "r.(?)" "p.(Thr383Met)" "" "0000711011" "00022142" "70" "172" "0" "172" "0" "c.172C>T" "r.(?)" "p.(Arg58Cys)" "" "0000722749" "00022142" "90" "1109" "-2" "1109" "-2" "c.1109-2A>G" "r.spl?" "p.?" "" "0000804352" "00022142" "30" "804" "0" "804" "0" "c.804G>A" "r.(?)" "p.(Gly268=)" "" "0000804353" "00022142" "30" "616" "4" "616" "4" "c.616+4C>T" "r.spl?" "p.?" "" "0000861864" "00022142" "30" "1886" "0" "1886" "0" "c.1886C>T" "r.(?)" "p.(Ala629Val)" "" "0000861865" "00022142" "30" "1670" "0" "1670" "0" "c.1670T>C" "r.(?)" "p.(Val557Ala)" "" "0000913247" "00022142" "70" "1807" "-2" "1807" "-2" "c.1807-2A>G" "r.spl?" "p.?" "" "0000965670" "00022142" "50" "2562" "0" "2562" "0" "c.2562C>G" "r.(?)" "p.(Asp854Glu)" "" "0000965671" "00022142" "50" "1229" "0" "1229" "0" "c.1229C>T" "r.(?)" "p.(Ala410Val)" "" "0000978972" "00022142" "30" "2776" "0" "2776" "0" "c.2776G>A" "r.(?)" "p.(Ala926Thr)" "" "0000978973" "00022142" "50" "1081" "0" "1081" "0" "c.1081C>T" "r.(?)" "p.(Arg361Cys)" "" "0000978974" "00022142" "30" "616" "4" "616" "4" "c.616+4C>T" "r.spl?" "p.?" "" "0000978975" "00022142" "30" "-40" "8" "-40" "8" "c.-40+8C>G" "r.(=)" "p.(=)" "" "0000978976" "00022142" "50" "-41" "0" "-41" "0" "c.-41C>G" "r.(?)" "p.(=)" "" "0001014609" "00022142" "50" "1939" "0" "1939" "0" "c.1939G>A" "r.(?)" "p.(Asp647Asn)" "" "0001037811" "00022142" "50" "2682" "0" "2682" "0" "c.2682G>A" "r.(?)" "p.(=)" "" "0001037812" "00022142" "50" "1199" "0" "1199" "0" "c.1199C>T" "r.(?)" "p.(Ala400Val)" "" "0001037813" "00022142" "50" "1148" "0" "1148" "0" "c.1148C>T" "r.(?)" "p.(Thr383Met)" "" "0001037814" "00022142" "30" "1108" "4" "1108" "4" "c.1108+4C>T" "r.spl?" "p.?" "" "0001037815" "00022142" "50" "830" "0" "830" "0" "c.830A>T" "r.(?)" "p.(Asp277Val)" "" "0001037816" "00022142" "50" "763" "0" "763" "0" "c.763G>A" "r.(?)" "p.(Gly255Ser)" "" "0001037817" "00022142" "50" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Ser240Leu)" "" "0001037818" "00022142" "30" "456" "8" "456" "8" "c.456+8G>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000050421" "0000079401" "0000267512" "0000598572" "0000267513" "0000598573" "0000267514" "0000598574" "0000267515" "0000598575" "0000267516" "0000598576" "0000267516" "0000598577" "0000327212" "0000711010" "0000327212" "0000711011"