### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TDRD7) # 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}}" "TDRD7" "tudor domain containing 7" "9" "q22.33" "unknown" "NG_028984.1" "UD_132085317715" "" "https://www.LOVD.nl/TDRD7" "" "1" "30831" "23424" "611258" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/TDRD7_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-08-08 15:13:22" "00006" "2025-11-25 19:19:10" ## 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}}" "00020943" "TDRD7" "tudor domain containing 7" "001" "NM_014290.2" "" "NP_055105.2" "" "" "" "-225" "3539" "3297" "100174302" "100258407" "" "0000-00-00 00:00:00" "" "" ## 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" "00296" "CTRCT" "cataract (CTRCT)" "" "" "" "" "" "00006" "2014-01-16 08:42:13" "00006" "2015-03-07 14:30:33" "00325" "SPG" "paraplegia, spastic (SPG)" "" "" "" "" "" "00006" "2014-02-15 22:29:17" "00006" "2016-11-28 13:01:43" "03484" "CTRCT36;CATC4" "cataract, type 36 (CTRCT-36, cataract, autosomal recessive congenital 4 (CATC-4))" "AR" "613887" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TDRD7" "03484" ## Individuals ## Do not remove or alter this header ## ## Count = 15 "{{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}}" "00260852" "" "" "" "4" "" "00006" "{PMID:Lachke 2011:21436445}" "2-generation family, 4 affected 2F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "" "" "0" "" "" "" "FamF3R" "00260853" "" "" "" "1" "" "00006" "{PMID:Lachke 2011:21436445}" "" "rM" "" "United States" "" "0" "" "" "" "DGAP186" "00260854" "" "" "" "5" "" "00006" "{PMID:Chen 2017:28418495}" "2-generation family, 5 affected (3F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "Fam60152" "00260855" "" "" "" "2" "" "00006" "{PMID:Tan 2019:31048812}" "5-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives" "M" "yes" "China" "" "0" "" "" "Han" "Fam1PatIV3" "00260856" "" "" "" "2" "" "00006" "{PMID:Tan 2019:31048812}" "5-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives" "M" "yes" "China" "" "0" "" "" "Han" "Fam2" "00414393" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "F" "" "China" "" "0" "" "" "" "WHP60" "00434085" "" "" "" "1" "" "00006" "{PMID:Li 2016:27307692}" "" "" "" "China" "" "0" "" "" "" "Pat62" "00434129" "" "" "" "2" "" "00006" "{PMID:Li 2019:31842807}" "2-generation family, affected mother/son" "M" "" "China" "" "0" "" "" "" "Fam1PatII1" "00434130" "" "" "" "3" "" "00006" "{PMID:Li 2019:31842807}" "2-generation family, affected mother/2 daughters" "F" "" "China" "" "0" "" "" "" "Fam2PatII1" "00434131" "" "" "" "5" "" "00006" "{PMID:Li 2019:31842807}" "4-generation family, 5 affected (5F)" "F" "" "China" "" "0" "" "" "" "Fam3PatIV1" "00434132" "" "" "" "4" "" "00006" "{PMID:Li 2019:31842807}" "4-generation family, 4 affected (2F, 2M)" "F" "" "China" "" "0" "" "" "" "Fam4PatIV1" "00434185" "" "" "" "1" "" "00006" "{PMID:Fernandez-Alcalde 2021:33923544}" "" "" "" "Spain" "" "0" "" "" "" "Fam30" "00434250" "" "" "" "1" "" "00006" "{PMID:Jackson 2020:32830442}" "" "" "" "Bangladesh" "" "0" "" "" "Asia" "Fam12720" "00446434" "" "" "" "2" "" "00006" "{PMID:Liu 2023:37337769}" "2-generation family, affected brother/sister, unaffected parents" "M" "" "China" "" "0" "" "" "" "Fam17Pat49" "00470010" "" "" "" "1" "" "00006" "{PMID:Lecca 2024:38840272}" "2-generation family, 1 affected, unaffected carrier parents" "F" "" "Italy" "" "0" "" "" "" "FamPPat25" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00260852" "00296" "00260853" "00198" "00260854" "00296" "00260855" "00198" "00260856" "00198" "00414393" "00198" "00434085" "00296" "00434129" "00296" "00434130" "00296" "00434131" "00296" "00434132" "00296" "00434185" "00296" "00434250" "00198" "00446434" "00296" "00470010" "00325" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00296, 00325, 03484 ## Count = 15 "{{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}}" "0000199384" "00296" "00260852" "00006" "Familial, autosomal recessive" "" "see paper; ...," "" "" "" "" "" "" "" "" "CTRCT-36" "congenital cataract" "" "0000199385" "00198" "00260853" "00006" "Unknown" "" "see paper; ..., at birth severe hypospadias, absence of testes in bifid scrotal sac; later testes descended, hypospadias treated with testosterone injection combined with surgery; 2y-left leukocoria, bilateral, progressive cataracts" "" "" "" "" "" "" "" "" "" "hypospadias, cataract" "" "0000199386" "00296" "00260854" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CTRCT-36" "congenital cataract" "" "0000199387" "00198" "00260855" "00006" "Familial, autosomal recessive" "" "see paper; ..., congenital cataract, azoospermia" "" "" "" "" "" "" "" "" "" "congenital cataract, azoospermia" "" "0000199388" "00198" "00260856" "00006" "Familial, autosomal recessive" "" "see paper; ..., congenital cataract, azoospermia" "" "" "" "" "" "" "" "" "" "congenital cataract, azoospermia" "" "0000306228" "00198" "00414393" "00000" "Unknown" "" "Cataract 36;Cataract 42" "" "" "" "" "" "" "" "" "" "" "" "0000324461" "00296" "00434085" "00006" "Familial, autosomal dominant" "" "bilateral posterior polar cataract" "" "" "" "" "" "" "" "" "" "cataract" "" "0000324483" "00296" "00434129" "00006" "Familial, autosomal dominant" "" "see paper; ..., nuclear cataract, white opacities" "" "" "" "" "" "" "" "" "CTRCT1" "cataract" "" "0000324484" "00296" "00434130" "00006" "Familial, autosomal dominant" "" "see paper; ..., nuclear/lamellar cataract, blue punctate opacities" "" "" "" "" "" "" "" "" "CTRCT14" "cataract" "" "0000324485" "00296" "00434131" "00006" "Familial, autosomal dominant" "" "see paper; ..., total cataract" "" "" "" "" "" "" "" "" "CTRCT33" "cataract" "" "0000324486" "00296" "00434132" "00006" "Familial, autosomal dominant" "" "see paper; ..., total cataract" "" "" "" "" "" "" "" "" "CTRCT6" "cataract" "" "0000324543" "00296" "00434185" "00006" "Familial, autosomal recessive" "" "posterior polar cataract; no microphthalmia; no microcornea; no iris malformations" "" "" "" "" "" "" "" "" "" "cataract" "" "0000324608" "00198" "00434250" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CTRCT36" "cataract" "" "0000335656" "00296" "00446434" "00006" "Familial, autosomal recessive" "" "bilateral congenital cataract" "" "" "" "" "" "" "" "" "CTRCT36" "congenital catarct" "" "0000355155" "00325" "00470010" "00006" "Familial, autosomal recessive" "12y" "see paper; ..., non-syndromic, bilateral cataract" "1d" "" "" "" "" "" "" "" "CTRCT36" "bilateral cataract" "" ## Screenings ## Do not remove or alter this header ## ## Count = 15 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000261956" "00260852" "1" "00006" "00006" "2019-08-09 08:50:17" "" "" "SEQ" "DNA" "" "" "0000261957" "00260853" "1" "00006" "00006" "2019-08-09 09:02:30" "" "" "FISH;microscope" "DNA" "" "" "0000261958" "00260854" "1" "00006" "00006" "2019-08-09 09:23:14" "" "" "SEQ" "DNA" "" "" "0000261959" "00260855" "1" "00006" "00006" "2019-08-09 09:37:23" "" "" "SEQ" "DNA" "" "" "0000261960" "00260856" "1" "00006" "00006" "2019-08-09 09:41:37" "" "" "SEQ" "DNA" "" "" "0000415673" "00414393" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000435552" "00434085" "1" "00006" "00006" "2023-03-19 16:52:56" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000435596" "00434129" "1" "00006" "00006" "2023-03-20 14:55:46" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000435597" "00434130" "1" "00006" "00006" "2023-03-20 14:55:46" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000435598" "00434131" "1" "00006" "00006" "2023-03-20 14:55:46" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000435599" "00434132" "1" "00006" "00006" "2023-03-20 14:55:46" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000435653" "00434185" "1" "00006" "00006" "2023-03-21 17:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000435718" "00434250" "1" "00006" "00006" "2023-03-22 17:30:10" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448007" "00446434" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000471678" "00470010" "1" "00006" "00006" "2025-11-25 19:19:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000261956" "TDRD7" "0000261957" "NR5A1" "0000261957" "TDRD7" "0000261958" "TDRD7" "0000261959" "TDRD7" "0000261960" "TDRD7" "0000415673" "TDRD7" ## 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 = 49 "{{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}}" "0000255976" "0" "50" "9" "100201568" "100201568" "subst" "0.00216775" "01943" "TDRD7_000001" "g.100201568A>G" "" "" "" "TDRD7(NM_014290.2):c.605A>G (p.H202R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.97439286A>G" "" "VUS" "" "0000316419" "0" "10" "9" "100234633" "100234633" "subst" "0.00645051" "01943" "TDRD7_000002" "g.100234633T>C" "" "" "" "TDRD7(NM_014290.2):c.1800T>C (p.C600=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.97472351T>C" "" "benign" "" "0000316420" "0" "50" "9" "100245206" "100245206" "subst" "0.00101629" "01943" "TDRD7_000003" "g.100245206C>T" "" "" "" "TDRD7(NM_014290.2):c.2488C>T (p.R830C), TDRD7(NM_014290.3):c.2488C>T (p.(Arg830Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.97482924C>T" "" "VUS" "" "0000316421" "0" "30" "9" "100257997" "100257997" "subst" "0.000154315" "01943" "TDRD7_000004" "g.100257997T>C" "" "" "" "TDRD7(NM_014290.2):c.3129T>C (p.H1043=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.97495715T>C" "" "likely benign" "" "0000535540" "0" "30" "9" "100194441" "100194441" "subst" "5.29053E-5" "01943" "TDRD7_000005" "g.100194441A>G" "" "" "" "TDRD7(NM_014290.2):c.484A>G (p.M162V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.97432159A>G" "" "likely benign" "" "0000535541" "0" "30" "9" "100201517" "100201517" "subst" "0" "01943" "TDRD7_000006" "g.100201517A>T" "" "" "" "TDRD7(NM_014290.2):c.564-10A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.97439235A>T" "" "likely benign" "" "0000535542" "0" "30" "9" "100201518" "100201518" "subst" "0" "01943" "TDRD7_000007" "g.100201518A>T" "" "" "" "TDRD7(NM_014290.2):c.564-9A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.97439236A>T" "" "likely benign" "" "0000535543" "0" "30" "9" "100201520" "100201520" "subst" "0" "01943" "TDRD7_000008" "g.100201520A>T" "" "" "" "TDRD7(NM_014290.2):c.564-7A>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.97439238A>T" "" "likely benign" "" "0000535544" "0" "30" "9" "100201520" "100201520" "subst" "0" "01804" "TDRD7_000008" "g.100201520A>T" "" "" "" "TDRD7(NM_014290.2):c.564-7A>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.97439238A>T" "" "likely benign" "" "0000535545" "0" "30" "9" "100201522" "100201522" "subst" "0" "01943" "TDRD7_000009" "g.100201522C>T" "" "" "" "TDRD7(NM_014290.2):c.564-5C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.97439240C>T" "" "likely benign" "" "0000535546" "0" "30" "9" "100201522" "100201522" "subst" "0" "01804" "TDRD7_000009" "g.100201522C>T" "" "" "" "TDRD7(NM_014290.2):c.564-5C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.97439240C>T" "" "likely benign" "" "0000535547" "0" "30" "9" "100201542" "100201542" "subst" "0.000193178" "01943" "TDRD7_000010" "g.100201542G>A" "" "" "" "TDRD7(NM_014290.2):c.579G>A (p.A193=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.97439260G>A" "" "likely benign" "" "0000535548" "0" "50" "9" "100240743" "100240743" "subst" "6.0985E-5" "01943" "TDRD7_000011" "g.100240743G>A" "" "" "" "TDRD7(NM_014290.2):c.2189G>A (p.R730Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.97478461G>A" "" "VUS" "" "0000592082" "3" "90" "9" "100234685" "100234687" "del" "0" "00006" "TDRD7_000012" "g.100234685_100234687del" "" "{PMID:Lachke 2011:21436445}" "" "" "" "Germline" "yes" "" "0" "" "" "g.97472403_97472405del" "" "pathogenic (recessive)" "" "0000592083" "0" "90" "9" "100195138" "127243515" "inv" "0" "00006" "TDRD7_000013" "g.(100192473_100195138)_(127243515_127269693)inv" "" "{PMID:Lachke 2011:21436445}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "46,XY,inv(9)(q22.33q34.11)" "" "" "pathogenic" "" "0000592085" "3" "90" "9" "100222733" "100222733" "del" "4.06855E-6" "00006" "TDRD7_000014" "g.100222733del" "" "{PMID:Chen 2017:28418495}" "" "" "" "Germline" "yes" "" "0" "" "1129delG" "g.97460451del" "" "pathogenic (recessive)" "" "0000592086" "3" "90" "9" "100193335" "100193335" "dup" "0" "00006" "TDRD7_000015" "g.100193335dup" "" "{PMID:Tan 2019:31048812}" "" "324_325insA" "" "Germline" "yes" "" "0" "" "" "g.97431053dup" "" "pathogenic (recessive)" "" "0000592087" "3" "90" "9" "100203991" "100203991" "dup" "0" "00006" "TDRD7_000016" "g.100203991dup" "" "{PMID:Tan 2019:31048812}" "" "688_689insA" "" "Germline" "yes" "" "0" "" "" "g.97441709dup" "" "pathogenic (recessive)" "" "0000622099" "0" "30" "9" "100245640" "100245640" "subst" "1.6372E-5" "01943" "TDRD7_000017" "g.100245640C>T" "" "" "" "TDRD7(NM_014290.2):c.2915+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.97483358C>T" "" "likely benign" "" "0000656162" "0" "50" "9" "100234725" "100234725" "subst" "3.67602E-5" "01943" "TDRD7_000018" "g.100234725A>G" "" "" "" "TDRD7(NM_014290.2):c.1892A>G (p.N631S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.97472443A>G" "" "VUS" "" "0000678461" "0" "30" "9" "100193238" "100193238" "subst" "0.001147" "01943" "TDRD7_000019" "g.100193238C>T" "" "" "" "TDRD7(NM_014290.2):c.231C>T (p.C77=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678462" "0" "30" "9" "100222858" "100222858" "subst" "0" "01943" "TDRD7_000020" "g.100222858G>A" "" "" "" "TDRD7(NM_014290.2):c.1254G>A (p.G418=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690333" "0" "50" "9" "100194394" "100194394" "subst" "0.000378489" "01943" "TDRD7_000021" "g.100194394A>G" "" "" "" "TDRD7(NM_014290.2):c.437A>G (p.K146R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690334" "0" "30" "9" "100234786" "100234786" "subst" "0.000168824" "01943" "TDRD7_000022" "g.100234786G>A" "" "" "" "TDRD7(NM_014290.2):c.1944+9G>A, TDRD7(NM_014290.3):c.1944+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722123" "0" "30" "9" "100190807" "100190807" "subst" "8.13114E-6" "01943" "TDRD7_000023" "g.100190807T>C" "" "" "" "TDRD7(NM_014290.2):c.60T>C (p.N20=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722124" "0" "50" "9" "100243198" "100243198" "subst" "6.50338E-5" "01943" "TDRD7_000024" "g.100243198A>G" "" "" "" "TDRD7(NM_014290.2):c.2390A>G (p.N797S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852026" "0" "30" "9" "100235915" "100235915" "subst" "0.000349915" "01943" "TDRD7_000025" "g.100235915C>T" "" "" "" "TDRD7(NM_014290.2):c.2079+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852027" "0" "50" "9" "100237749" "100237749" "subst" "8.18599E-6" "01943" "TDRD7_000026" "g.100237749G>A" "" "" "" "TDRD7(NM_014290.2):c.2164G>A (p.E722K), TDRD7(NM_014290.3):c.2164G>A (p.(Glu722Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852028" "0" "50" "9" "100245569" "100245569" "subst" "4.06971E-6" "01943" "TDRD7_000027" "g.100245569G>A" "" "" "" "TDRD7(NM_014290.2):c.2851G>A (p.V951M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000873522" "0" "70" "9" "100203991" "100203991" "dup" "0" "00000" "TDRD7_000016" "g.100203991dup" "160" "{PMID:Sun 2018:30076350}" "" "TDRD7(NM_014290.2):c.688_689insA(p.Y230Terfs*1); CRYBA2(NM_057094.1):c.457T>C(p.Y153H)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.97441709dup" "" "likely pathogenic" "" "0000921552" "1" "90" "9" "100190830" "100190830" "subst" "8.12955E-6" "00006" "TDRD7_000029" "g.100190830A>C" "" "{PMID:Li 2016:27307692}" "" "" "" "Germline" "" "" "0" "" "" "g.97428548A>C" "" "pathogenic" "" "0000921634" "0" "30" "9" "100194348" "100194348" "subst" "0.000418842" "00006" "TDRD7_000030" "g.100194348A>G" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs200841827" "0" "" "" "g.97432066A>G" "" "likely benign" "" "0000921635" "3" "30" "9" "100194406" "100194406" "subst" "0.507161" "00006" "TDRD7_000031" "g.100194406T>C" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs2045732" "0" "" "" "g.97432124T>C" "" "likely benign" "" "0000921659" "0" "30" "9" "100190780" "100190780" "subst" "0.507255" "00006" "TDRD7_000028" "g.100190780A>G" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs1381532" "0" "" "" "g.97428498A>G" "" "likely benign" "" "0000921660" "0" "30" "9" "100194406" "100194406" "subst" "0.507161" "00006" "TDRD7_000031" "g.100194406T>C" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs2045732" "0" "" "" "g.97432124T>C" "" "likely benign" "" "0000921687" "3" "30" "9" "100190780" "100190780" "subst" "0.507255" "00006" "TDRD7_000028" "g.100190780A>G" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs1381532" "0" "" "" "g.97428498A>G" "" "likely benign" "" "0000921688" "3" "30" "9" "100194406" "100194406" "subst" "0.507161" "00006" "TDRD7_000031" "g.100194406T>C" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs2045732" "0" "" "" "g.97432124T>C" "" "likely benign" "" "0000921689" "0" "30" "9" "100201551" "100201551" "subst" "0.0500945" "00006" "TDRD7_000032" "g.100201551A>G" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs7853578" "0" "" "" "g.97439269A>G" "" "likely benign" "" "0000921713" "0" "30" "9" "100190780" "100190780" "subst" "0.507255" "00006" "TDRD7_000028" "g.100190780A>G" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs1381532" "0" "" "" "g.97428498A>G" "" "likely benign" "" "0000921714" "0" "30" "9" "100194406" "100194406" "subst" "0.507161" "00006" "TDRD7_000031" "g.100194406T>C" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs2045732" "0" "" "" "g.97432124T>C" "" "likely benign" "" "0000921814" "21" "50" "9" "100222689" "100222689" "subst" "4.06686E-6" "00006" "TDRD7_000033" "g.100222689C>T" "" "{PMID:Fernandez-Alcalde 2021:33923544}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.97460407C>T" "" "VUS" "" "0000921891" "3" "90" "9" "100227272" "100227272" "subst" "1.22034E-5" "00006" "TDRD7_000034" "g.100227272C>T" "" "{PMID:Jackson 2020:32830442}" "" "" "" "Germline" "" "" "0" "" "" "g.97464990C>T" "" "pathogenic (recessive)" "" "0000957387" "3" "70" "9" "100232938" "100232938" "dup" "0" "00006" "TDRD7_000035" "g.100232938dup" "" "{PMID:Liu 2023:37337769}" "" "" "" "Germline" "yes" "" "0" "" "" "g.97470656dup" "" "likely pathogenic (recessive)" "" "0001037098" "0" "50" "9" "100201526" "100201526" "subst" "0" "01804" "TDRD7_000036" "g.100201526G>C" "" "" "" "TDRD7(NM_014290.3):c.564-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037099" "0" "30" "9" "100234786" "100234786" "subst" "0.000168824" "01804" "TDRD7_000022" "g.100234786G>A" "" "" "" "TDRD7(NM_014290.2):c.1944+9G>A, TDRD7(NM_014290.3):c.1944+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037100" "0" "50" "9" "100237749" "100237749" "subst" "8.18599E-6" "01804" "TDRD7_000026" "g.100237749G>A" "" "" "" "TDRD7(NM_014290.2):c.2164G>A (p.E722K), TDRD7(NM_014290.3):c.2164G>A (p.(Glu722Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037101" "0" "30" "9" "100245206" "100245206" "subst" "0.00101629" "01804" "TDRD7_000003" "g.100245206C>T" "" "" "" "TDRD7(NM_014290.2):c.2488C>T (p.R830C), TDRD7(NM_014290.3):c.2488C>T (p.(Arg830Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001059902" "1" "70" "9" "100245378" "100245378" "del" "0" "00006" "TDRD7_000038" "g.100245378del" "" "{PMID:Lecca 2024:38840272}" "" "" "ACMG PVS1, PM2_P" "Germline" "" "" "0" "" "" "g.97483096del" "" "likely pathogenic (recessive)" "ACMG" "0001059932" "2" "50" "9" "100222709" "100222709" "subst" "4.06765E-6" "00006" "TDRD7_000037" "g.100222709T>G" "" "{PMID:Lecca 2024:38840272}" "" "" "ACMG PM2_P, PM3_M" "Germline/De novo (untested)" "" "" "0" "" "" "g.97460427T>G" "" "VUS" "ACMG" ## 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 TDRD7 ## Count = 49 "{{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}}" "0000255976" "00020943" "50" "605" "0" "605" "0" "c.605A>G" "r.(?)" "p.(His202Arg)" "" "0000316419" "00020943" "10" "1800" "0" "1800" "0" "c.1800T>C" "r.(?)" "p.(Cys600=)" "" "0000316420" "00020943" "50" "2488" "0" "2488" "0" "c.2488C>T" "r.(?)" "p.(Arg830Cys)" "" "0000316421" "00020943" "30" "3129" "0" "3129" "0" "c.3129T>C" "r.(?)" "p.(His1043=)" "" "0000535540" "00020943" "30" "484" "0" "484" "0" "c.484A>G" "r.(?)" "p.(Met162Val)" "" "0000535541" "00020943" "30" "564" "-10" "564" "-10" "c.564-10A>T" "r.(=)" "p.(=)" "" "0000535542" "00020943" "30" "564" "-9" "564" "-9" "c.564-9A>T" "r.(=)" "p.(=)" "" "0000535543" "00020943" "30" "564" "-7" "564" "-7" "c.564-7A>T" "r.(=)" "p.(=)" "" "0000535544" "00020943" "30" "564" "-7" "564" "-7" "c.564-7A>T" "r.(=)" "p.(=)" "" "0000535545" "00020943" "30" "564" "-5" "564" "-5" "c.564-5C>T" "r.spl?" "p.?" "" "0000535546" "00020943" "30" "564" "-5" "564" "-5" "c.564-5C>T" "r.spl?" "p.?" "" "0000535547" "00020943" "30" "579" "0" "579" "0" "c.579G>A" "r.(?)" "p.(Ala193=)" "" "0000535548" "00020943" "50" "2189" "0" "2189" "0" "c.2189G>A" "r.(?)" "p.(Arg730Gln)" "" "0000592082" "00020943" "90" "1852" "0" "1854" "0" "c.1852_1854del" "r.(?)" "p.(Val618del)" "" "0000592083" "00020943" "90" "0" "" "0" "" "c.(208-742_563+618)::[NM_004959.4:(-181_*1522)]" "r.?" "p.?" "2i_4i" "0000592085" "00020943" "90" "1129" "0" "1129" "0" "c.1129del" "r.(?)" "p.(Ala377Profs*2)" "" "0000592086" "00020943" "90" "328" "0" "328" "0" "c.328dup" "r.(?)" "p.(Thr110Asnfs*30)" "" "0000592087" "00020943" "90" "689" "0" "689" "0" "c.689dup" "r.(?)" "p.(Tyr230*)" "" "0000622099" "00020943" "30" "2915" "7" "2915" "7" "c.2915+7C>T" "r.(=)" "p.(=)" "" "0000656162" "00020943" "50" "1892" "0" "1892" "0" "c.1892A>G" "r.(?)" "p.(Asn631Ser)" "" "0000678461" "00020943" "30" "231" "0" "231" "0" "c.231C>T" "r.(?)" "p.(Cys77=)" "" "0000678462" "00020943" "30" "1254" "0" "1254" "0" "c.1254G>A" "r.(?)" "p.(Gly418=)" "" "0000690333" "00020943" "50" "437" "0" "437" "0" "c.437A>G" "r.(?)" "p.(Lys146Arg)" "" "0000690334" "00020943" "30" "1944" "9" "1944" "9" "c.1944+9G>A" "r.(=)" "p.(=)" "" "0000722123" "00020943" "30" "60" "0" "60" "0" "c.60T>C" "r.(?)" "p.(Asn20=)" "" "0000722124" "00020943" "50" "2390" "0" "2390" "0" "c.2390A>G" "r.(?)" "p.(Asn797Ser)" "" "0000852026" "00020943" "30" "2079" "7" "2079" "7" "c.2079+7C>T" "r.(=)" "p.(=)" "" "0000852027" "00020943" "50" "2164" "0" "2164" "0" "c.2164G>A" "r.(?)" "p.(Glu722Lys)" "" "0000852028" "00020943" "50" "2851" "0" "2851" "0" "c.2851G>A" "r.(?)" "p.(Val951Met)" "" "0000873522" "00020943" "70" "689" "0" "689" "0" "c.689dup" "r.(?)" "p.(Tyr230*)" "" "0000921552" "00020943" "90" "83" "0" "83" "0" "c.83A>C" "r.(?)" "p.(Gln28Pro)" "" "0000921634" "00020943" "30" "391" "0" "391" "0" "c.391A>G" "r.(?)" "p.(Asn131Asp)" "" "0000921635" "00020943" "30" "449" "0" "449" "0" "c.449T>C" "r.(?)" "p.(Val150Ala)" "" "0000921659" "00020943" "30" "33" "0" "33" "0" "c.33A>G" "r.(?)" "p.(Leu11=)" "" "0000921660" "00020943" "30" "449" "0" "449" "0" "c.449T>C" "r.(?)" "p.(Val150Ala)" "" "0000921687" "00020943" "30" "33" "0" "33" "0" "c.33A>G" "r.(?)" "p.(Leu11=)" "" "0000921688" "00020943" "30" "449" "0" "449" "0" "c.449T>C" "r.(?)" "p.(Val150Ala)" "" "0000921689" "00020943" "30" "588" "0" "588" "0" "c.588A>G" "r.(?)" "p.(Gln196=)" "" "0000921713" "00020943" "30" "33" "0" "33" "0" "c.33A>G" "r.(?)" "p.(Leu11=)" "" "0000921714" "00020943" "30" "449" "0" "449" "0" "c.449T>C" "r.(?)" "p.(Val150Ala)" "" "0000921814" "00020943" "50" "1085" "0" "1085" "0" "c.1085C>T" "r.(?)" "p.(Pro362Leu)" "" "0000921891" "00020943" "90" "1591" "0" "1591" "0" "c.1591C>T" "r.(?)" "p.(Arg531Trp)" "" "0000957387" "00020943" "70" "1728" "0" "1728" "0" "c.1728dup" "r.(?)" "p.(Cys577MetfsTer2)" "" "0001037098" "00020943" "50" "564" "-1" "564" "-1" "c.564-1G>C" "r.spl?" "p.?" "" "0001037099" "00020943" "30" "1944" "9" "1944" "9" "c.1944+9G>A" "r.(=)" "p.(=)" "" "0001037100" "00020943" "50" "2164" "0" "2164" "0" "c.2164G>A" "r.(?)" "p.(Glu722Lys)" "" "0001037101" "00020943" "30" "2488" "0" "2488" "0" "c.2488C>T" "r.(?)" "p.(Arg830Cys)" "" "0001059902" "00020943" "70" "2660" "0" "2660" "0" "c.2660del" "r.(?)" "p.(Lys887SerfsTer55)" "" "0001059932" "00020943" "50" "1105" "0" "1105" "0" "c.1105T>G" "r.(?)" "p.(Tyr369Asp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{variantid}}" "0000261956" "0000592082" "0000261957" "0000592083" "0000261958" "0000592085" "0000261959" "0000592086" "0000261960" "0000592087" "0000415673" "0000873522" "0000435552" "0000921552" "0000435596" "0000921634" "0000435596" "0000921635" "0000435597" "0000921659" "0000435597" "0000921660" "0000435598" "0000921687" "0000435598" "0000921688" "0000435598" "0000921689" "0000435599" "0000921713" "0000435599" "0000921714" "0000435653" "0000921814" "0000435718" "0000921891" "0000448007" "0000957387" "0000471678" "0001059902" "0000471678" "0001059932"