### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = TEAD1)
# 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}}"
"TEAD1" "TEA domain family member 1 (SV40 transcriptional enhancer factor)" "11" "p15.4" "unknown" "NG_021302.1" "UD_132118240814" "" "https://www.LOVD.nl/TEAD1" "" "1" "11714" "7003" "189967" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/TEAD1_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00000" "2012-07-18 00:00:00" "00006" "2020-11-26 19:23:32" "00000" "2024-10-29 21:08:56"
## 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}}"
"00001585" "TEAD1" "TEA domain family member 1 (SV40 transcriptional enhancer factor)" "001" "NM_021961.5" "" "NP_068780.2" "" "" "" "-620" "8796" "1281" "12695969" "12966284" "00000" "2012-09-13 13:41:07" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 4
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"01189" "SCRA" "atrophy, chorioretinal, Sveinsson (SCRA)" "AD" "108985" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-11-26 19:25:04"
"04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"TEAD1" "01189"
## Individuals ## Do not remove or alter this header ##
## Count = 11
"{{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}}"
"00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" ""
"00372391" "" "" "" "1" "" "00006" "{PMID:Schrauwen 2015:26091538}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "" "" "0" "" "" "" "Fam2"
"00372393" "" "" "" "81" "" "00006" "{PMID:Fossdale 2004:15016762}" "81 patients from 10 related families" "F;M" "" "Iceland" "" "0" "" "" "" "family"
"00376317" "" "" "" "1" "" "00000" "{PMID:Avela 2019:18487375}" "present in unaffected mother" "" "" "Finland" "" "0" "" "" "Finnish" ""
"00391363" "" "" "" "1" "" "00000" "{PMID:Méjécase 2020:3278337" "" "?" "" "United Arab Emirates" "" "0" "" "" "" "19"
"00408444" "" "" "" "1" "" "00000" "{PMID:Avela 2019:31087526}" "" "?" "" "Finland" "" "0" "" "" "" "31"
"00417484" "" "" "" "1" "" "00000" "{PMID:Jonasson 2007:17339054}" "" "F" "" "" "82y" "0" "" "" "Icelandic" "?"
"00417489" "" "" "" "1" "" "00000" "{PMID:Tosi 2009:19410955}" "proband\'s mother, the only family member to be screened for mutation - segregation unknown; Case 1 (daughter) and Case 3 (mother) not genetically tested" "F" "" "" "" "0" "" "" "" "Case 2"
"00417490" "" "" "" "1" "" "00000" "{PMID:Grubisa 2021:33864784}" "Serbian family, father; more detailed clinical findings in Milenkovic et al.,2005" "M" "" "Bosnia and Herzegovina" "" "0" "" "" "Serbian" "1"
"00417491" "" "" "" "1" "" "00000" "{PMID:Grubisa 2021:33864784}" "Serbian family, daughter; more detailed clinical findings in Milenkovic et al.,2006" "F" "" "Bosnia and Herzegovina" "" "0" "" "" "Serbian" "2"
"00417492" "" "" "" "1" "" "00000" "{PMID:Grubisa 2021:33864784}" "Serbian family, son; more detailed clinical findings in Milenkovic et al.,2007" "M" "" "Bosnia and Herzegovina" "" "0" "" "" "Serbian" "3"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 11
"{{individualid}}" "{{diseaseid}}"
"00000209" "01157"
"00372391" "00198"
"00372393" "01189"
"00376317" "04214"
"00391363" "04214"
"00408444" "04214"
"00417484" "01189"
"00417489" "01189"
"00417490" "01189"
"00417491" "01189"
"00417492" "01189"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 01157, 01189, 04214
## Count = 11
"{{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}}"
"0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" ""
"0000267706" "00198" "00372391" "00006" "Isolated (sporadic)" "" "see paper; ..., normal corpus callosum, retinal lacunae, 3.5m-infantile seizures; cerebellar cyst, periventricular\r\nheterotopias" "" "" "" "" "" "" "" "" "" "Aicardi syndrome" ""
"0000267709" "01189" "00372393" "00006" "Familial, autosomal dominant" "" "see paper; ..., symmetrical lesions radiating from the optic disc involving retina and choroid" "" "" "" "" "" "" "" "" "SCRA" "Sveinsson’s chorioretinal atrophy" ""
"0000271525" "04214" "00376317" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Atypical RP" ""
"0000284803" "04214" "00391363" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Sveinsson chorioretinal atrophy (108985)" "Sveinsson chorioretinal atrophy (108985)" ""
"0000300560" "04214" "00408444" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "atypical retinitis pigmentosa" "" ""
"0000308970" "01189" "00417484" "00000" "Familial, autosomal dominant" "82y" "congenital anterior polar cataracts and Sveinsson chorioretinal atrophy from childhood lost central vision in both eyes within 1 year because of the extension of Sveinsson chorioretinal atrophy into the macula; intravenous fluorescein angiography: the most severely affected areas apparently lacked retinal pigment epithelium (RPE) and a choroidal vasculature, in less severely affected areas, the RPE and choriocapillaris absent but some choroidal blood vessels still present; at some sites in the transitional zone between affected and apparently healthy tissue, some fluorescein leakage apparent from the margins of a still-functioning choriocapillaris; retinal blood vessels unaffected. Eyes enucleated within 4 hours of death at the age of 82 years, right eye fixed in formalin for light microscopy; light microscopy: the macroscopic changes reflected atrophy of the sensory retina and choroid and a loss of RPE; none of the examined retinal tissue had a multilayered ganglion cell layer; macular region and fovea could not be identified, abnormalities most conspicuous in the areas of total RPE atrophy and somewhat less marked in the zones between the atrophic and normal sensory retina; at the margin of some affected areas, only RPE and the photoreceptor outer segment junctions affected; portions of the posterior retina extremely well preserved, in sharp contrast to the degenerated sensory retina; at the margin between apparently normal and atrophic retina, a portion of the retina contained small eosinophilic globular material apparently derived from photoreceptors, adjacent to a multilayered RPE that seemed to contain multinucleated cells and may reflect a tangential section through the retina; severely degenerated sensory retina rested on a thin Bruch’s membrane that devoid of a normally attached RPE; in the more severely affected areas, the sensory retina, RPE, and choriocapillaris absent, exposing an extremely thin atrophic choroid with very few melanocytes and a naked sclera; Bruch’s membrane in the vicinity of theic nerve head: several focal thickenings and excrescences; discrete atrophic areas of the posterior sensory retina characterized by degenerate retinal cells adherent to the underlying choroid, in contrast to normal eyes, in which the sensory retina is separated from the RPE by a potential space that typically becomes accentuated because of the artifactual separation of these structures in eyes studied after death; the peripheral sensory retina not adherent to the attenuated RPE. Histopathologic observations: some transitions between affected and unaffected areas, both the RPE and the outer segments of the photoreceptors ended abruptly, but the nuclei of the photoreceptors retained a normal appearance slightly further into the more severely affected area; other areas in the posterior pole affected similarly, except that the RPE immediately terminated, whereas the outer segments of the photoreceptors persisted further toward the peripheral retina; advanced changes included a disappearance of the RPE, photoreceptors, and choriocapillaris, and when Bruch’s membrane could be identified, it thin and the adjacent choriocapillaris atrophic; most advanced areas: all layers between the bipolar neurons and the sclera absent; peripheral retina contained areas without photoreceptors, underlying individual cells of the RPE sparse and attenuated, much thinner than normal but still formed a continuous layer beneath the photoreceptors in the peripheral retina; optic nerve: normal in cross sections, diameter half to two thirds of normal and the subarachnoid space wider than normal, but well myelinated, indicating hypoplasia rather than atrophy of the optic ; lens cataractous, but the remainder of the eye essentially unremarkable and within the normal limits expected for the patient’s age; inflammatory cells: not detected in any of the tissue sect" "10y" "" "" "" "" "" "" "" "atrophy, chorioretinal, Sveinsson (SCRA)" "" ""
"0000308971" "01189" "00417489" "00000" "Familial, autosomal dominant" "38y" "uncorrected visual acuity right, left eye: 20/25+2, 20/20; anterior segmen: unremarkable without anterior polar cataracts; funduscopy: characteristic chorioretinal atrophy lesions radiating from the optic discs; peripapillary choroidal-retinal atrophy was symmetric in both eyes; no signs of macular edema; scanning laser ophthalmoscopy: autofluorescent pattern was consistent with retinal pigment epithelium and choroidal atrophy along the peripapillary region in both eye; autofluorescent hyperdensity along the edge of the chorioretinal degeneration secondary to the retinal pigment epithelium atrophy; optical coherence tomography examination showed only a remaining thin layer of Bruch���������s membrane after retinal pigment epithelium loss, larger choroidal vessels visible through this area devoid of retinal pigment epithelium cells; electroreti" "" "" "" "" "" "" "" "" "atrophy, chorioretinal, Sveinsson (SCRA)" "" ""
"0000308972" "01189" "00417490" "00000" "Familial, autosomal dominant" "45y" "" "" "" "" "" "" "" "" "" "atrophy, chorioretinal, Sveinsson (SCRA)" "" ""
"0000308973" "01189" "00417491" "00000" "Familial, autosomal dominant" "20y" "" "" "" "" "" "" "" "" "" "atrophy, chorioretinal, Sveinsson (SCRA)" "" ""
"0000308974" "01189" "00417492" "00000" "Familial, autosomal dominant" "15y" "" "" "" "" "" "" "" "" "" "atrophy, chorioretinal, Sveinsson (SCRA)" "" ""
## Screenings ## Do not remove or alter this header ##
## Count = 11
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000373619" "00372391" "1" "00006" "00006" "2021-05-07 09:40:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS"
"0000373622" "00372393" "1" "00006" "00006" "2021-05-07 09:53:49" "" "" "SEQ" "DNA" "" ""
"0000377513" "00376317" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "SEQ-NG" "DNA" "blood" ""
"0000392605" "00391363" "1" "00000" "03840" "2021-11-15 18:02:17" "" "" "SEQ-NG" "DNA" "" "retrospective case note review, targeted gene panel testing"
"0000409701" "00408444" "1" "00000" "03840" "2022-04-21 15:58:46" "" "" "SEQ-NG;SEQ" "DNA" "" "targeted gene analysis or a next-generation sequencing-based gene panel"
"0000418777" "00417484" "1" "00000" "03840" "2022-09-17 20:59:26" "" "" "?" "DNA" "" "retrospective study, phenotyping"
"0000418782" "00417489" "1" "00000" "03840" "2022-09-18 11:49:32" "" "" "?" "DNA" "" ""
"0000418783" "00417490" "1" "00000" "03840" "2022-09-18 12:01:36" "03840" "2022-09-18 12:13:07" "SEQ" "DNA" "" ""
"0000418784" "00417491" "1" "00000" "03840" "2022-09-18 12:01:36" "03840" "2022-09-18 12:13:07" "SEQ" "DNA" "" ""
"0000418785" "00417492" "1" "00000" "03840" "2022-09-18 12:01:36" "03840" "2022-09-18 12:13:07" "SEQ" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 10
"{{screeningid}}" "{{geneid}}"
"0000373619" "TEAD1"
"0000373622" "TEAD1"
"0000377513" "TEAD1"
"0000392605" "TEAD1"
"0000409701" "TEAD1"
"0000418777" "TEAD1"
"0000418782" "TEAD1"
"0000418783" "TEAD1"
"0000418784" "TEAD1"
"0000418785" "TEAD1"
## 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 = 30
"{{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}}"
"0000012930" "0" "50" "11" "12822588" "12822588" "subst" "0" "00037" "TEAD1_000001" "g.12822588G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.12801041G>A" "" "VUS" ""
"0000309110" "0" "30" "11" "12904559" "12904559" "subst" "4.06114E-6" "02330" "TEAD1_000003" "g.12904559G>T" "" "" "" "TEAD1(NM_021961.6):c.586G>T (p.A196S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12883012G>T" "" "likely benign" ""
"0000309111" "0" "10" "11" "12904648" "12904648" "subst" "0.00306988" "02330" "TEAD1_000004" "g.12904648C>T" "" "" "" "TEAD1(NM_021961.5):c.675C>T (p.L225=), TEAD1(NM_021961.6):c.675C>T (p.L225=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12883101C>T" "" "benign" ""
"0000309112" "0" "30" "11" "12946538" "12946538" "subst" "4.06124E-6" "02330" "TEAD1_000005" "g.12946538T>C" "" "" "" "TEAD1(NM_021961.6):c.953T>C (p.M318T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12924991T>C" "" "likely benign" ""
"0000316422" "0" "30" "11" "12904541" "12904541" "subst" "1.21847E-5" "01943" "TEAD1_000002" "g.12904541C>G" "" "" "" "TEAD1(NM_021961.5):c.575-7C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12882994C>G" "" "likely benign" ""
"0000316423" "0" "30" "11" "12904648" "12904648" "subst" "0.00306988" "01943" "TEAD1_000004" "g.12904648C>T" "" "" "" "TEAD1(NM_021961.5):c.675C>T (p.L225=), TEAD1(NM_021961.6):c.675C>T (p.L225=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12883101C>T" "" "likely benign" ""
"0000348825" "0" "30" "11" "12785838" "12785838" "subst" "4.06372E-6" "02327" "TEAD1_000006" "g.12785838G>A" "" "" "" "TEAD1(NM_021961.6):c.59G>A (p.S20N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12764291G>A" "" "likely benign" ""
"0000543013" "0" "10" "11" "12951705" "12951705" "subst" "0.000174928" "02330" "TEAD1_000007" "g.12951705C>T" "" "" "" "TEAD1(NM_021961.6):c.1015-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12930158C>T" "" "benign" ""
"0000543014" "0" "30" "11" "12951716" "12951716" "subst" "0.000260201" "01943" "TEAD1_000008" "g.12951716C>T" "" "" "" "TEAD1(NM_021961.5):c.1015-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12930169C>T" "" "likely benign" ""
"0000622596" "0" "30" "11" "12923524" "12923524" "subst" "4.87341E-5" "01943" "TEAD1_000009" "g.12923524A>G" "" "" "" "TEAD1(NM_021961.5):c.737A>G (p.N246S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12901977A>G" "" "likely benign" ""
"0000679108" "0" "30" "11" "12883870" "12883870" "subst" "0.000402776" "01943" "TEAD1_000010" "g.12883870A>G" "" "" "" "TEAD1(NM_021961.5):c.267+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000783768" "0" "90" "11" "12904591" "12904591" "subst" "0" "00006" "TEAD1_000011" "g.12904591G>A" "" "{PMID:Schrauwen 2015:26091538}" "" "" "" "De novo" "" "" "0" "" "" "g.12883044G>A" "" "pathogenic (dominant)" ""
"0000783771" "1" "90" "11" "12958749" "12958749" "subst" "0" "00006" "TEAD1_000012" "g.12958749T>C" "" "{PMID:Fossdale 2004:15016762}" "" "" "" "Germline" "yes" "" "0" "" "" "g.12937202T>C" "" "pathogenic (dominant)" ""
"0000789875" "0" "50" "11" "12951769" "12951769" "subst" "4.0622E-6" "00000" "TEAD1_000013" "g.12951769C>T" "" "{PMID:Avela 2019:31087526}" "" "c.1063C>T" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000804998" "0" "30" "11" "12785818" "12785818" "subst" "0.000276382" "01943" "TEAD1_000014" "g.12785818C>T" "" "" "" "TEAD1(NM_021961.5):c.39C>T (p.A13=), TEAD1(NM_021961.6):c.39C>T (p.A13=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000805003" "0" "30" "11" "12901397" "12901397" "subst" "0.000265207" "01943" "TEAD1_000015" "g.12901397A>G" "" "" "" "TEAD1(NM_021961.5):c.465+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000822948" "0" "70" "11" "0" "0" "" "0" "00000" "DRD4_000002" "g.?" "" "{PMID:Méjécase 2020:32783370}" "" "TEAD1 Multi-exon (1-8) duplication" "heterozygous" "Unknown" "?" "" "0" "" "" "g.?" "" "likely pathogenic" ""
"0000846905" "21" "50" "11" "12951769" "12951769" "subst" "4.0622E-6" "00000" "TEAD1_000013" "g.12951769C>T" "gnomAD 0% in Finnish, all 0.00071%; not in HGMD" "{PMID:Avela 2019:31087526}" "" "TEAD1 c.1063C>T p., Arg355Cys)" "heterozygous (VUS), present in unaffected mother" "Germline" "yes" "" "0" "" "" "g.12930222C>T" "" "VUS" ""
"0000852826" "0" "30" "11" "12923663" "12923666" "del" "0" "01943" "TEAD1_000018" "g.12923663_12923666del" "" "" "" "TEAD1(NM_021961.5):c.873+3_873+6delGAGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000862368" "0" "30" "11" "12904577" "12904577" "subst" "0" "01943" "TEAD1_000016" "g.12904577T>A" "" "" "" "TEAD1(NM_021961.5):c.604T>A (p.S202T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000862369" "0" "30" "11" "12923491" "12923491" "subst" "3.65515E-5" "01943" "TEAD1_000017" "g.12923491A>G" "" "" "" "TEAD1(NM_021961.5):c.704A>G (p.N235S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000878626" "10" "70" "11" "12958749" "12958749" "subst" "0" "00000" "TEAD1_000012" "g.12958749T>C" "" "{PMID:Jonasson 2007:17339054}" "" "TEAD1 Y421H" "heterozygous" "Germline" "yes" "" "0" "" "" "g.12937202T>C" "" "likely pathogenic" ""
"0000878632" "20" "90" "11" "12958749" "12958749" "subst" "0" "00000" "TEAD1_000012" "g.12958749T>C" "" "{PMID:Tosi 2009:19410955}" "" "TEAD1 T1261C" "heterozygous; no protein annotation" "Germline" "?" "" "0" "" "" "g.12937202T>C" "" "pathogenic" ""
"0000878633" "0" "70" "11" "12958749" "12958749" "subst" "0" "00000" "TEAD1_000019" "g.12958749T>A" "" "{PMID:Grubisa 2021:33864784}" "" "TEAD1 c.1261T>A, p.Tyr421Asn" "heterozygous" "Germline" "?" "" "0" "" "" "g.12937202T>A" "" "likely pathogenic" ""
"0000878634" "11" "70" "11" "12958749" "12958749" "subst" "0" "00000" "TEAD1_000019" "g.12958749T>A" "" "{PMID:Grubisa 2021:33864784}" "" "TEAD1 c.1261T>A, p.Tyr421Asn" "heterozygous" "Germline" "?" "" "0" "" "" "g.12937202T>A" "" "likely pathogenic" ""
"0000878635" "11" "70" "11" "12958749" "12958749" "subst" "0" "00000" "TEAD1_000019" "g.12958749T>A" "" "{PMID:Grubisa 2021:33864784}" "" "TEAD1 c.1261T>A, p.Tyr421Asn" "heterozygous" "Germline" "?" "" "0" "" "" "g.12937202T>A" "" "likely pathogenic" ""
"0000889695" "0" "50" "11" "12785838" "12785838" "subst" "4.06372E-6" "02325" "TEAD1_000006" "g.12785838G>A" "" "" "" "TEAD1(NM_021961.6):c.59G>A (p.S20N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000913528" "0" "30" "11" "12785858" "12785858" "subst" "4.06415E-6" "02327" "TEAD1_000020" "g.12785858A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000949613" "0" "30" "11" "12901402" "12901402" "subst" "0.000187852" "02330" "TEAD1_000021" "g.12901402C>T" "" "" "" "TEAD1(NM_021961.6):c.465+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001014765" "0" "30" "11" "12785818" "12785818" "subst" "0.000276382" "02330" "TEAD1_000014" "g.12785818C>T" "" "" "" "TEAD1(NM_021961.5):c.39C>T (p.A13=), TEAD1(NM_021961.6):c.39C>T (p.A13=)" "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 TEAD1
## Count = 30
"{{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}}"
"0000012930" "00001585" "50" "202" "36607" "202" "36607" "c.202+36607G>A" "r.(=)" "p.(=)" ""
"0000309110" "00001585" "30" "586" "0" "586" "0" "c.586G>T" "r.(?)" "p.(Ala196Ser)" ""
"0000309111" "00001585" "10" "675" "0" "675" "0" "c.675C>T" "r.(?)" "p.(Leu225=)" ""
"0000309112" "00001585" "30" "953" "0" "953" "0" "c.953T>C" "r.(?)" "p.(Met318Thr)" ""
"0000316422" "00001585" "30" "575" "-7" "575" "-7" "c.575-7C>G" "r.(=)" "p.(=)" ""
"0000316423" "00001585" "30" "675" "0" "675" "0" "c.675C>T" "r.(?)" "p.(Leu225=)" ""
"0000348825" "00001585" "30" "59" "0" "59" "0" "c.59G>A" "r.(?)" "p.(Ser20Asn)" ""
"0000543013" "00001585" "10" "1015" "-16" "1015" "-16" "c.1015-16C>T" "r.(=)" "p.(=)" ""
"0000543014" "00001585" "30" "1015" "-5" "1015" "-5" "c.1015-5C>T" "r.spl?" "p.?" ""
"0000622596" "00001585" "30" "737" "0" "737" "0" "c.737A>G" "r.(?)" "p.(Asn246Ser)" ""
"0000679108" "00001585" "30" "267" "9" "267" "9" "c.267+9A>G" "r.(=)" "p.(=)" ""
"0000783768" "00001585" "90" "618" "0" "618" "0" "c.618G>A" "r.?" "p.(Trp206Ter)" ""
"0000783771" "00001585" "90" "1261" "0" "1261" "0" "c.1261T>C" "r.(?)" "p.(Tyr421His)" ""
"0000789875" "00001585" "50" "1063" "0" "1063" "0" "c.1063C>T" "r.?" "p.?" "12"
"0000804998" "00001585" "30" "39" "0" "39" "0" "c.39C>T" "r.(?)" "p.(Ala13=)" ""
"0000805003" "00001585" "30" "465" "8" "465" "8" "c.465+8A>G" "r.(=)" "p.(=)" ""
"0000822948" "00001585" "70" "0" "0" "0" "0" "c.?" "r.spl" "p.(?)" ""
"0000846905" "00001585" "50" "1063" "0" "1063" "0" "c.1063C>T" "r.(?)" "p.(Arg355Cys)" ""
"0000852826" "00001585" "30" "873" "3" "873" "6" "c.873+3_873+6del" "r.spl?" "p.?" ""
"0000862368" "00001585" "30" "604" "0" "604" "0" "c.604T>A" "r.(?)" "p.(Ser202Thr)" ""
"0000862369" "00001585" "30" "704" "0" "704" "0" "c.704A>G" "r.(?)" "p.(Asn235Ser)" ""
"0000878626" "00001585" "70" "1261" "0" "1261" "0" "c.1261T>C" "r.(?)" "p.(Tyr421His)" "1"
"0000878632" "00001585" "90" "1261" "0" "1261" "0" "c.1261T>C" "r.(?)" "p.(Tyr421His)" "1"
"0000878633" "00001585" "70" "1261" "0" "1261" "0" "c.1261T>A" "r.(?)" "p.(Tyr421Asn)" "1"
"0000878634" "00001585" "70" "1261" "0" "1261" "0" "c.1261T>A" "r.(?)" "p.(Tyr421Asn)" "1"
"0000878635" "00001585" "70" "1261" "0" "1261" "0" "c.1261T>A" "r.(?)" "p.(Tyr421Asn)" "1"
"0000889695" "00001585" "50" "59" "0" "59" "0" "c.59G>A" "r.(?)" "p.(Ser20Asn)" ""
"0000913528" "00001585" "30" "79" "0" "79" "0" "c.79A>G" "r.(?)" "p.(Ile27Val)" ""
"0000949613" "00001585" "30" "465" "13" "465" "13" "c.465+13C>T" "r.(=)" "p.(=)" ""
"0001014765" "00001585" "30" "39" "0" "39" "0" "c.39C>T" "r.(?)" "p.(Ala13=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 11
"{{screeningid}}" "{{variantid}}"
"0000000210" "0000012930"
"0000373619" "0000783768"
"0000373622" "0000783771"
"0000377513" "0000789875"
"0000392605" "0000822948"
"0000409701" "0000846905"
"0000418777" "0000878626"
"0000418782" "0000878632"
"0000418783" "0000878633"
"0000418784" "0000878634"
"0000418785" "0000878635"