### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TINF2) # 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}}" "TINF2" "TERF1 (TRF1)-interacting nuclear factor 2" "14" "q12" "unknown" "NG_016650.1" "UD_132119102495" "" "http://www.LOVD.nl/TINF2" "The TINF2 Telomerase Database " "1" "11824" "26277" "604319" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland. As a start data were copied from the Telomerase Database TERC (TR) gene." "" "g" "http://databases.lovd.nl/shared/refseq/TINF2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-06-25 14:53:28" "00000" "2025-07-08 13:22:38" ## 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}}" "00021156" "TINF2" "transcript variant 1" "001" "NM_001099274.1" "" "NP_001092744.1" "" "" "" "-342" "1510" "1356" "24711880" "24708849" "" "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" "02055" "Revesz" "Revesz syndrome" "AD" "268130" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02823" "anemia" "anemia, aplastic, incl. susceptibility to" "" "609135" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-02-28 09:08:20" "03511" "DKCA3" "dyskeratosis congenita, autosomal dominant, type 3 (DKCA-3)" "AD" "613990" "" "" "" "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 = 2 "{{geneid}}" "{{diseaseid}}" "TINF2" "02055" "TINF2" "03511" ## Individuals ## Do not remove or alter this header ## ## Count = 34 "{{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}}" "00100470" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2012:21199492}" "" "" "" "" "" "0" "" "" "" "21199492-?" "00100471" "" "" "" "1" "" "00006" "{PMID:Walne 2008:18669893}" "" "" "" "" "" "0" "" "" "" "18669893-?" "00100472" "" "" "" "1" "" "00006" "{PMID:Walne 2008:18669893}" "" "" "" "" "" "0" "" "" "" "18669893-?" "00100473" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2011:21931702}" "" "" "" "" "" "0" "" "" "" "21931702-?" "00100474" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2012:21199492}" "" "" "" "" "" "0" "" "" "" "21199492-?" "00100475" "" "" "" "1" "" "00006" "{PMID:Sasa 2012:21477109}" "" "" "" "" "" "0" "" "" "" "21477109-?" "00100476" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2012:21199492}" "" "" "" "" "" "0" "" "" "" "21199492-?" "00100477" "" "" "" "1" "" "00006" "{PMID:Walne 2008:18669893}" "" "" "" "" "" "0" "" "" "" "18669893-?" "00100478" "" "" "" "1" "" "00006" "{PMID:Savage 2008:18252230}" "" "" "" "" "" "0" "" "" "" "18252230-?" "00100479" "" "" "" "1" "" "00006" "{PMID:Sasa 2012:21477109}" "" "" "" "" "" "0" "" "" "" "21477109-?" "00100480" "" "" "" "1" "" "00006" "{PMID:Walne 2008:18669893}" "" "" "" "" "" "0" "" "" "" "18669893-?" "00100481" "" "" "" "1" "" "00006" "{PMID:Savage 2008:18252230}" "" "" "" "" "" "0" "" "" "" "18252230-?" "00100482" "" "" "" "1" "" "00006" "{PMID:Walne 2008:18669893}" "" "" "" "" "" "0" "" "" "" "18669893-?" "00100483" "" "" "" "1" "" "00006" "{PMID:Savage 2008:18252230}" "" "" "" "" "" "0" "" "" "" "18252230-?" "00100484" "" "" "" "1" "" "00006" "{PMID:Walne 2008:18669893}" "" "" "" "" "" "0" "" "" "" "18669893-?" "00100485" "" "" "" "1" "" "00006" "{PMID:Walne 2008:18669893}" "" "" "" "" "" "0" "" "" "" "18669893-?" "00100486" "" "" "" "1" "" "00006" "{PMID:Walne 2008:18669893}" "" "" "" "" "" "0" "" "" "" "18669893-?" "00100487" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2012:21199492}" "" "" "" "" "" "0" "" "" "" "21199492-?" "00100488" "" "" "" "1" "" "00006" "{PMID:Walne 2008:18669893}" "" "" "" "" "" "0" "" "" "" "18669893-?" "00100489" "" "" "" "1" "" "00006" "{PMID:Walne 2008:18669893}" "" "" "" "" "" "0" "" "" "" "18669893-?" "00100490" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2012:21199492}" "" "" "" "" "" "0" "" "" "" "21199492-?" "00100491" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2012:21199492}" "" "" "" "" "" "0" "" "" "" "21199492-?" "00100492" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2012:21199492}" "" "" "" "" "" "0" "" "" "" "21199492-?" "00100493" "" "" "" "1" "" "00006" "{PMID:Walne 2008:18669893}" "" "" "" "" "" "0" "" "" "" "18669893-?" "00100494" "" "" "" "1" "" "00006" "{PMID:Walne 2008:18669893}" "" "" "" "" "" "0" "" "" "" "18669893-?" "00100495" "" "" "" "1" "" "00006" "{PMID:Walne 2008:18669893}" "" "" "" "" "" "0" "" "" "" "18669893-?" "00100496" "" "" "" "1" "" "00006" "{PMID:Walne 2008:18669893}" "" "" "" "" "" "0" "" "" "" "18669893-?" "00100497" "" "" "" "1" "" "00006" "{PMID:Walne 2008:18669893}" "" "" "" "" "" "0" "" "" "" "18669893-?" "00291020" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291021" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00362789" "" "" "" "1" "" "00006" "{PMID:Tsangaris 2011:21659346}" "" "" "" "Canada" "" "0" "" "" "" "" "00362790" "" "" "" "1" "" "00006" "{PMID:Tsangaris 2011:21659346}" "" "" "" "Canada" "" "0" "" "" "" "" "00362791" "" "" "" "1" "" "00006" "{PMID:Tsangaris 2011:21659346}" "" "" "" "Canada" "" "0" "" "" "" "" "00362792" "" "" "" "1" "" "00006" "{PMID:Tsangaris 2011:21659346}" "" "" "" "Canada" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 34 "{{individualid}}" "{{diseaseid}}" "00100470" "00198" "00100471" "02823" "00100472" "02823" "00100473" "02823" "00100474" "03511" "00100475" "03511" "00100476" "00198" "00100477" "03511" "00100478" "03511" "00100479" "02055" "00100480" "00198" "00100481" "02055" "00100482" "03511" "00100483" "03511" "00100484" "03511" "00100485" "03511" "00100486" "03511" "00100487" "00198" "00100488" "03511" "00100489" "03511" "00100490" "03511" "00100491" "00198" "00100492" "00198" "00100493" "03511" "00100494" "03511" "00100495" "03511" "00100496" "03511" "00100497" "03511" "00291020" "00198" "00291021" "00198" "00362789" "00198" "00362790" "00198" "00362791" "00198" "00362792" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02055, 02823, 03511 ## Count = 32 "{{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}}" "0000078671" "00198" "00100470" "00006" "Unknown" "" "bone marrow failure" "" "" "" "" "" "" "" "" "" "" "" "0000078672" "02823" "00100471" "00006" "Unknown" "" "aplastic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000078673" "02823" "00100472" "00006" "Unknown" "" "aplastic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000078674" "02823" "00100473" "00006" "Unknown" "" "aplastic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000078675" "03511" "00100474" "00006" "Unknown" "" "mucocutaneous features, bone marrow failure, dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "0000078676" "03511" "00100475" "00006" "Unknown" "" "mucocutaneous features, bone marrow failure, dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "0000078677" "00198" "00100476" "00006" "Unknown" "" "nail distrophy, bone marrow failure, lichenoid tongue, dry skin, intrauterine frowth retardation" "" "" "" "" "" "" "" "" "" "" "" "0000078678" "03511" "00100477" "00006" "Familial, autosomal dominant" "" "autosomal-dominant dyskeratosis congenita, Hoyeraal Hreidarsson syndrome, and Revesz syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000078679" "03511" "00100478" "00006" "Familial, autosomal dominant" "" "autosomal-dominant dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "0000078680" "02055" "00100479" "00006" "Unknown" "" "dyskeratosis congenita, Revesz syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000078681" "00198" "00100480" "00006" "Unknown" "" "low wbc" "" "" "" "" "" "" "" "" "" "" "" "0000078682" "02055" "00100481" "00006" "Familial, autosomal dominant" "" "autosomal-dominant dyskeratosis congenita, Revesz syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000078683" "03511" "00100482" "00006" "Familial, autosomal dominant" "" "autosomal-dominant dyskeratosis congenita and aplastic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000078684" "03511" "00100483" "00006" "Familial, autosomal dominant" "" "autosomal-dominant dyskeratosis congenita, Hoyeraal Hreidarsson syndrome, and Revesz syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000078685" "03511" "00100484" "00006" "Familial, autosomal dominant" "" "autosomal-dominant dyskeratosis congenita and Hoyeraal Hreidarsson syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000078686" "03511" "00100485" "00006" "Familial, autosomal dominant" "" "autosomal-dominant dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "0000078687" "03511" "00100486" "00006" "Familial, autosomal dominant" "" "autosomal-dominant dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "0000078688" "00198" "00100487" "00006" "Unknown" "" "nail distrophy, bone marrow failure" "" "" "" "" "" "" "" "" "" "" "" "0000078689" "03511" "00100488" "00006" "Familial, autosomal dominant" "" "autosomal-dominant dyskeratosis congenita and aplastic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000078690" "03511" "00100489" "00006" "Familial, autosomal dominant" "" "autosomal-dominant dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "0000078691" "03511" "00100490" "00006" "Unknown" "" "dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "0000078692" "00198" "00100491" "00006" "Unknown" "" "bone marrow failure, hair loss, dental loss, pulmonary disease, short stature, osteoporosis" "" "" "" "" "" "" "" "" "" "" "" "0000078693" "00198" "00100492" "00006" "Unknown" "" "nail distrophy, bone marrow failure, microcephaly, low immunoglobulins" "" "" "" "" "" "" "" "" "" "" "" "0000078694" "03511" "00100493" "00006" "Familial, autosomal dominant" "" "autosomal-dominant dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "0000078695" "03511" "00100494" "00006" "Familial, autosomal dominant" "" "autosomal-dominant dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "0000078696" "03511" "00100495" "00006" "Familial, autosomal dominant" "" "autosomal-dominant dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "0000078697" "03511" "00100496" "00006" "Familial, autosomal dominant" "" "autosomal-dominant dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "0000078698" "03511" "00100497" "00006" "Familial, autosomal dominant" "" "autosomal-dominant dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "0000258159" "00198" "00362789" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Dyskeratosis congenita" "" "0000258160" "00198" "00362790" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Dyskeratosis congenita" "" "0000258161" "00198" "00362791" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Dyskeratosis congenita" "" "0000258162" "00198" "00362792" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Dyskeratosis congenita" "" ## Screenings ## Do not remove or alter this header ## ## Count = 34 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000100878" "00100470" "1" "00006" "01921" "2013-04-23 12:00:00" "" "" "SEQ" "DNA" "" "" "0000100879" "00100471" "1" "00006" "01921" "2013-04-23 12:00:00" "" "" "SEQ" "DNA" "" "" "0000100880" "00100472" "1" "00006" "01921" "2013-04-23 12:00:00" "" "" "SEQ" "DNA" "" "" "0000100881" "00100473" "1" "00006" "01921" "2013-04-23 12:00:00" "" "" "SEQ" "DNA" "" "" "0000100882" "00100474" "1" "00006" "01921" "2013-04-23 12:00:00" "" "" "SEQ" "DNA" "" "" "0000100883" "00100475" "1" "00006" "01921" "2013-04-23 12:00:00" "" "" "SEQ" "DNA" "" "" "0000100884" "00100476" "1" "00006" "01921" "2013-04-23 12:00:00" "" "" "SEQ" "DNA" "" "" "0000100885" "00100477" "1" "00006" "01921" "2013-04-23 12:00:00" "" "" "SEQ" "DNA" "" "" "0000100886" "00100478" "1" "00006" "01921" "2013-04-23 12:00:00" "" "" "SEQ" "DNA" "" "" "0000100887" "00100479" "1" "00006" "01921" "2013-04-23 12:00:00" "" "" "SEQ" "DNA" "" "" "0000100888" "00100480" "1" "00006" "01921" "2013-04-23 12:00:00" "" "" "SEQ" "DNA" "" "" "0000100889" "00100481" "1" "00006" "01921" "2013-04-23 12:00:00" "" "" "SEQ" "DNA" "" "" "0000100890" "00100482" "1" "00006" "01921" "2013-04-23 12:00:00" "" "" "SEQ" "DNA" "" "" "0000100891" "00100483" "1" "00006" "01921" "2013-04-23 12:00:00" "" "" "SEQ" "DNA" "" "" "0000100892" "00100484" "1" "00006" "01921" "2013-04-23 12:00:00" "" "" "SEQ" "DNA" "" "" "0000100893" "00100485" "1" "00006" "01921" "2013-04-23 12:00:00" "" "" "SEQ" "DNA" "" "" "0000100894" "00100486" "1" "00006" "01921" "2013-04-23 12:00:00" "" "" "SEQ" "DNA" "" "" "0000100895" "00100487" "1" "00006" "01921" "2013-04-23 12:00:00" "" "" "SEQ" "DNA" "" "" "0000100896" "00100488" "1" "00006" "01921" "2013-04-23 12:00:00" "" "" "SEQ" "DNA" "" "" "0000100897" "00100489" "1" "00006" "01921" "2013-04-23 12:00:00" "" "" "SEQ" "DNA" "" "" "0000100898" "00100490" "1" "00006" "01921" "2013-04-23 12:00:00" "" "" "SEQ" "DNA" "" "" "0000100899" "00100491" "1" "00006" "01921" "2013-04-23 12:00:00" "" "" "SEQ" "DNA" "" "" "0000100900" "00100492" "1" "00006" "01921" "2013-04-23 12:00:00" "" "" "SEQ" "DNA" "" "" "0000100901" "00100493" "1" "00006" "01921" "2013-04-23 12:00:00" "" "" "SEQ" "DNA" "" "" "0000100902" "00100494" "1" "00006" "01921" "2013-04-23 12:00:00" "" "" "SEQ" "DNA" "" "" "0000100903" "00100495" "1" "00006" "01921" "2013-04-23 12:00:00" "" "" "SEQ" "DNA" "" "" "0000100904" "00100496" "1" "00006" "01921" "2013-04-23 12:00:00" "" "" "SEQ" "DNA" "" "" "0000100905" "00100497" "1" "00006" "01921" "2013-04-23 12:00:00" "" "" "SEQ" "DNA" "" "" "0000292188" "00291020" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292189" "00291021" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000364017" "00362789" "1" "00006" "00006" "2021-04-23 13:33:15" "" "" "SEQ" "DNA" "" "" "0000364018" "00362790" "1" "00006" "00006" "2021-04-23 13:33:15" "" "" "SEQ" "DNA" "" "" "0000364019" "00362791" "1" "00006" "00006" "2021-04-23 13:33:15" "" "" "SEQ" "DNA" "" "" "0000364020" "00362792" "1" "00006" "00006" "2021-04-23 13:33:15" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 32 "{{screeningid}}" "{{geneid}}" "0000100878" "TINF2" "0000100879" "TINF2" "0000100880" "TINF2" "0000100881" "TINF2" "0000100882" "TINF2" "0000100883" "TINF2" "0000100884" "TINF2" "0000100885" "TINF2" "0000100886" "TINF2" "0000100887" "TINF2" "0000100888" "TINF2" "0000100889" "TINF2" "0000100890" "TINF2" "0000100891" "TINF2" "0000100892" "TINF2" "0000100893" "TINF2" "0000100894" "TINF2" "0000100895" "TINF2" "0000100896" "TINF2" "0000100897" "TINF2" "0000100898" "TINF2" "0000100899" "TINF2" "0000100900" "TINF2" "0000100901" "TINF2" "0000100902" "TINF2" "0000100903" "TINF2" "0000100904" "TINF2" "0000100905" "TINF2" "0000364017" "TINF2" "0000364018" "TINF2" "0000364019" "TINF2" "0000364020" "TINF2" ## 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 = 89 "{{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}}" "0000163269" "1" "90" "14" "24710046" "24710046" "subst" "2.04108E-5" "00006" "TINF2_000001" "g.24710046G>A" "" "{PMID:Vulliamy 2012:21199492}" "" "" "{DB-TEL:tinf2}" "Germline" "" "" "0" "" "" "g.24240840G>A" "" "pathogenic" "" "0000163270" "1" "90" "14" "24709980" "24709980" "subst" "0.00081807" "00006" "TINF2_000002" "g.24709980G>A" "" "{PMID:Walne 2008:18669893}" "" "" "{DB-TEL:tinf2}" "Germline" "" "" "0" "" "" "g.24240774G>A" "" "pathogenic" "" "0000163271" "1" "90" "14" "24709952" "24709952" "subst" "0.00114068" "00006" "TINF2_000003" "g.24709952G>T" "" "{PMID:Walne 2008:18669893}" "" "" "{DB-TEL:tinf2}" "Germline" "" "" "0" "" "" "g.24240746G>T" "" "pathogenic" "" "0000163272" "1" "90" "14" "24709875" "24709875" "subst" "0" "00006" "TINF2_000004" "g.24709875G>A" "" "{PMID:Vulliamy 2011:21931702}" "" "" "{DB-TEL:tinf2}" "Germline" "" "" "0" "" "" "g.24240669G>A" "" "pathogenic" "" "0000163273" "1" "90" "14" "24709881" "24709881" "subst" "0" "00006" "TINF2_000005" "g.24709881G>A" "" "{PMID:Vulliamy 2012:21199492}" "" "" "{DB-TEL:tinf2}" "Germline" "" "" "0" "" "" "g.24240675G>A" "" "pathogenic" "" "0000163274" "1" "90" "14" "24709881" "24709881" "subst" "0" "00006" "TINF2_000005" "g.24709881G>A" "" "{PMID:Sasa 2012:21477109}" "" "" "{DB-TEL:tinf2}" "Germline" "" "" "0" "" "" "g.24240675G>A" "" "pathogenic" "" "0000163275" "1" "90" "14" "24709860" "24709860" "del" "0" "00006" "TINF2_000006" "g.24709860del" "" "{PMID:Vulliamy 2012:21199492}" "" "" "{DB-TEL:tinf2}" "Germline" "" "" "0" "" "" "g.24240654del" "" "pathogenic" "" "0000163276" "1" "90" "14" "24709848" "24709848" "subst" "0" "00006" "TINF2_000007" "g.24709848T>A" "" "{PMID:Walne 2008:18669893}" "" "" "{DB-TEL:tinf2}" "Germline" "" "" "0" "" "" "g.24240642T>A" "" "pathogenic" "" "0000163277" "1" "90" "14" "24709848" "24709848" "subst" "0" "00006" "TINF2_000008" "g.24709848T>C" "" "{PMID:Savage 2008:18252230}" "" "" "{DB-TEL:tinf2}" "Germline" "" "" "0" "" "" "g.24240642T>C" "" "pathogenic" "" "0000163278" "1" "90" "14" "24709848" "24709848" "del" "0" "00006" "TINF2_000009" "g.24709848del" "" "{PMID:Sasa 2012:21477109}" "" "" "{DB-TEL:tinf2}" "Germline" "" "" "0" "" "" "g.24240642del" "" "pathogenic" "" "0000163279" "1" "90" "14" "24709845" "24709845" "subst" "0.000109668" "00006" "TINF2_000010" "g.24709845C>T" "" "{PMID:Walne 2008:18669893}" "" "" "{DB-TEL:tinf2}" "Germline" "" "" "0" "" "" "g.24240639C>T" "" "pathogenic" "" "0000163280" "1" "90" "14" "24709842" "24709842" "subst" "0" "00006" "TINF2_000011" "g.24709842G>T" "" "{PMID:Savage 2008:18252230}" "" "" "{DB-TEL:tinf2}" "Germline" "" "" "0" "" "" "g.24240636G>T" "" "pathogenic" "" "0000163281" "1" "90" "14" "24709842" "24709842" "subst" "0" "00006" "TINF2_000012" "g.24709842G>A" "" "{PMID:Walne 2008:18669893}" "" "" "{DB-TEL:tinf2}" "Germline" "" "" "0" "" "" "g.24240636G>A" "" "pathogenic" "" "0000163282" "1" "90" "14" "24709841" "24709841" "subst" "0" "00006" "TINF2_000013" "g.24709841C>T" "" "{PMID:Savage 2008:18252230}" "" "" "{DB-TEL:tinf2}" "Germline" "" "" "0" "" "" "g.24240635C>T" "" "pathogenic" "" "0000163283" "1" "90" "14" "24709839" "24709839" "subst" "0" "00006" "TINF2_000014" "g.24709839G>A" "" "{PMID:Walne 2008:18669893}" "" "" "{DB-TEL:tinf2}" "Germline" "" "" "0" "" "" "g.24240633G>A" "" "pathogenic" "" "0000163284" "1" "90" "14" "24709839" "24709839" "subst" "0" "00006" "TINF2_000015" "g.24709839G>C" "" "{PMID:Walne 2008:18669893}" "" "" "{DB-TEL:tinf2}" "Germline" "" "" "0" "" "" "g.24240633G>C" "" "pathogenic" "" "0000163285" "1" "90" "14" "24709838" "24709838" "subst" "0" "00006" "TINF2_000016" "g.24709838G>T" "" "{PMID:Walne 2008:18669893}" "" "" "{DB-TEL:tinf2}" "Germline" "" "" "0" "" "" "g.24240632G>T" "" "pathogenic" "" "0000163286" "1" "90" "14" "24709840" "24709840" "del" "0" "00006" "TINF2_000017" "g.24709840del" "" "{PMID:Vulliamy 2012:21199492}" "" "" "{DB-TEL:tinf2}" "Germline" "" "" "0" "" "" "g.24240634del" "" "pathogenic" "" "0000163287" "1" "90" "14" "24709840" "24709840" "dup" "0" "00006" "TINF2_000018" "g.24709840dup" "" "{PMID:Walne 2008:18669893}" "" "" "{DB-TEL:tinf2}" "Germline" "" "" "0" "" "" "g.24240634dup" "" "pathogenic" "" "0000163288" "1" "90" "14" "24709836" "24709836" "subst" "0" "00006" "TINF2_000019" "g.24709836T>C" "" "{PMID:Walne 2008:18669893}" "" "" "{DB-TEL:tinf2}" "Germline" "" "" "0" "" "" "g.24240630T>C" "" "pathogenic" "" "0000163289" "1" "90" "14" "24709835" "24709835" "subst" "0" "00006" "TINF2_000020" "g.24709835G>T" "" "{PMID:Vulliamy 2012:21199492}" "" "" "{DB-TEL:tinf2}" "Germline" "" "" "0" "" "" "g.24240629G>T" "" "pathogenic" "" "0000163290" "1" "90" "14" "24709835" "24709835" "subst" "0" "00006" "TINF2_000021" "g.24709835G>C" "" "{PMID:Vulliamy 2012:21199492}" "" "" "{DB-TEL:tinf2}" "Germline" "" "" "0" "" "" "g.24240629G>C" "" "pathogenic" "" "0000163291" "1" "90" "14" "24709829" "24709829" "delins" "0" "00006" "TINF2_000022" "g.24709829delinsGC" "" "{PMID:Vulliamy 2012:21199492}" "" "857delTinsGC" "{DB-TEL:tinf2}" "Germline" "" "" "0" "" "" "g.24240623delinsGC" "" "pathogenic" "" "0000163292" "1" "90" "14" "24709826" "24709826" "subst" "0" "00006" "TINF2_000023" "g.24709826A>G" "" "{PMID:Walne 2008:18669893}" "" "" "{DB-TEL:tinf2}" "Germline" "" "" "0" "" "" "g.24240620A>G" "" "pathogenic" "" "0000163293" "1" "90" "14" "24709820" "24709821" "delins" "0" "00006" "TINF2_000024" "g.24709820_24709821delinsCT" "" "{PMID:Walne 2008:18669893}" "" "" "{DB-TEL:tinf2}" "Germline" "" "" "0" "" "" "g.24240614_24240615delinsCT" "" "pathogenic" "" "0000163294" "1" "90" "14" "24709821" "24709821" "dup" "0" "00006" "TINF2_000025" "g.24709821dup" "" "{PMID:Walne 2008:18669893}" "" "" "{DB-TEL:tinf2}" "Germline" "" "" "0" "" "" "g.24240615dup" "" "pathogenic" "" "0000163295" "1" "90" "14" "24709815" "24709815" "subst" "0" "00006" "TINF2_000026" "g.24709815T>C" "" "{PMID:Walne 2008:18669893}" "" "" "{DB-TEL:tinf2}" "Germline" "" "" "0" "" "" "g.24240609T>C" "" "pathogenic" "" "0000163296" "1" "90" "14" "24709796" "24709796" "del" "0" "00006" "TINF2_000027" "g.24709796del" "" "{PMID:Walne 2008:18669893}" "" "" "{DB-TEL:tinf2}" "Germline" "" "" "0" "" "" "g.24240590del" "" "pathogenic" "" "0000311856" "0" "10" "14" "24711465" "24711465" "subst" "0.00177334" "02325" "TINF2_000032" "g.24711465C>G" "" "" "" "TINF2(NM_012461.2):c.74G>C (p.G25A), TINF2(NM_012461.3):c.74G>C (p.G25A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24242259C>G" "" "benign" "" "0000316621" "0" "30" "14" "24709506" "24709506" "subst" "0.00551209" "01943" "TINF2_000035" "g.24709506C>T" "" "" "" "TINF2(NM_001099274.1):c.1092G>A (p.L364=, p.(Leu364=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24240300C>T" "" "likely benign" "" "0000316622" "0" "30" "14" "24709075" "24709075" "subst" "8.12189E-6" "01943" "TINF2_000034" "g.24709075G>A" "" "" "" "TINF2(NM_001099274.1):c.1284C>T (p.Y428=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24239869G>A" "" "likely benign" "" "0000316623" "0" "30" "14" "24709047" "24709047" "subst" "1.21829E-5" "01943" "TINF2_000033" "g.24709047G>C" "" "" "" "TINF2(NM_001099274.1):c.1312C>G (p.P438A, p.(Pro438Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24239841G>C" "" "likely benign" "" "0000316624" "0" "50" "14" "24711511" "24711511" "subst" "5.45952E-5" "01943" "TINF2_000038" "g.24711511C>A" "" "" "" "TINF2(NM_012461.2):c.28G>T (p.A10S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24242305C>A" "" "VUS" "" "0000316625" "0" "30" "14" "24709915" "24709915" "subst" "0.00093707" "01943" "TINF2_000037" "g.24709915G>A" "" "" "" "TINF2(NM_012461.2):c.771C>T (p.H257=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24240709G>A" "" "likely benign" "" "0000316626" "0" "30" "14" "24709773" "24709773" "subst" "8.12203E-6" "01943" "TINF2_000036" "g.24709773T>C" "" "" "" "TINF2(NM_001099274.3):c.913A>G (p.S305G), TINF2(NM_012461.2):c.913A>G (p.S305G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24240567T>C" "" "likely benign" "" "0000323623" "0" "30" "14" "24705323" "24705323" "subst" "1.62483E-5" "01804" "GMPR2_000001" "g.24705323C>T" "" "" "" "GMPR2(NM_001002000.2):c.442C>T (p.(Arg148Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24236117C>T" "" "likely benign" "" "0000345222" "0" "70" "14" "24710226" "24710226" "subst" "0" "02327" "TINF2_000030" "g.24710226C>G" "" "" "" "TINF2(NM_001099274.1):c.604G>C (p.(Glu202Gln)), TINF2(NM_012461.2):c.604G>C (p.E202Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24241020C>G" "" "likely pathogenic" "" "0000345918" "0" "30" "14" "24711465" "24711465" "subst" "0.00177334" "02327" "TINF2_000032" "g.24711465C>G" "" "" "" "TINF2(NM_012461.2):c.74G>C (p.G25A), TINF2(NM_012461.3):c.74G>C (p.G25A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24242259C>G" "" "likely benign" "" "0000348797" "0" "70" "14" "24710273" "24710273" "del" "0" "02327" "TINF2_000031" "g.24710273del" "" "" "" "TINF2(NM_012461.2):c.557delC (p.S186Ffs*24)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24241067del" "" "likely pathogenic" "" "0000552440" "0" "50" "14" "24709047" "24709047" "subst" "1.21829E-5" "01804" "TINF2_000033" "g.24709047G>C" "" "" "" "TINF2(NM_001099274.1):c.1312C>G (p.P438A, p.(Pro438Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24239841G>C" "" "VUS" "" "0000552441" "0" "50" "14" "24709275" "24709275" "subst" "4.06134E-6" "01943" "GMPR2_000002" "g.24709275C>T" "" "" "" "TINF2(NM_001099274.1):c.1216G>A (p.G406R), TINF2(NM_001099274.3):c.1216G>A (p.G406R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24240069C>T" "" "VUS" "" "0000552442" "0" "50" "14" "24709325" "24709325" "subst" "0.000125924" "01943" "GMPR2_000003" "g.24709325A>G" "" "" "" "TINF2(NM_001099274.1):c.1166T>C (p.I389T), TINF2(NM_001099274.3):c.1166T>C (p.(Ile389Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24240119A>G" "" "VUS" "" "0000552443" "0" "30" "14" "24709867" "24709867" "subst" "2.03216E-5" "01943" "GMPR2_000004" "g.24709867G>A" "" "" "" "TINF2(NM_012461.2):c.819C>T (p.A273=), TINF2(NM_012461.3):c.819C>T (p.A273=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24240661G>A" "" "likely benign" "" "0000552444" "0" "50" "14" "24709952" "24709952" "subst" "0.00114068" "01943" "TINF2_000003" "g.24709952G>T" "" "" "" "TINF2(NM_001099274.1):c.734C>A (p.(Ser245Tyr)), TINF2(NM_001099274.3):c.734C>A (p.S245Y), TINF2(NM_012461.2):c.734C>A (p.S245Y), TINF2(NM_012461.3)..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24240746G>T" "" "VUS" "" "0000552446" "0" "50" "14" "24710226" "24710226" "subst" "0" "01943" "TINF2_000030" "g.24710226C>G" "" "" "" "TINF2(NM_001099274.1):c.604G>C (p.(Glu202Gln)), TINF2(NM_012461.2):c.604G>C (p.E202Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24241020C>G" "" "VUS" "" "0000552447" "0" "50" "14" "24710226" "24710226" "subst" "0" "01804" "TINF2_000030" "g.24710226C>G" "" "" "" "TINF2(NM_001099274.1):c.604G>C (p.(Glu202Gln)), TINF2(NM_012461.2):c.604G>C (p.E202Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24241020C>G" "" "VUS" "" "0000552448" "0" "30" "14" "24710965" "24710965" "subst" "4.48266E-5" "01943" "GMPR2_000006" "g.24710965C>T" "" "" "" "TINF2(NM_012461.2):c.315G>A (p.R105=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24241759C>T" "" "likely benign" "" "0000552449" "0" "30" "14" "24711207" "24711207" "subst" "0" "01943" "GMPR2_000007" "g.24711207G>C" "" "" "" "TINF2(NM_012461.2):c.193-7C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24242001G>C" "" "likely benign" "" "0000614940" "0" "30" "14" "24709050" "24709050" "subst" "2.84273E-5" "01943" "GMPR2_000008" "g.24709050T>C" "" "" "" "TINF2(NM_001099274.1):c.1309A>G (p.I437V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24239844T>C" "" "likely benign" "" "0000614941" "0" "50" "14" "24709828" "24709828" "subst" "0" "02325" "GMPR2_000010" "g.24709828C>G" "" "" "" "TINF2(NM_012461.3):c.858G>C (p.M286I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24240622C>G" "" "VUS" "" "0000614942" "0" "30" "14" "24709963" "24709963" "subst" "0" "01943" "GMPR2_000011" "g.24709963A>T" "" "" "" "TINF2(NM_012461.2):c.723T>A (p.P241=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24240757A>T" "" "likely benign" "" "0000614943" "0" "30" "14" "24710252" "24710252" "subst" "0" "01943" "GMPR2_000012" "g.24710252C>G" "" "" "" "TINF2(NM_012461.2):c.578G>C (p.G193A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24241046C>G" "" "likely benign" "" "0000614944" "0" "30" "14" "24710917" "24710917" "subst" "4.09175E-6" "01943" "GMPR2_000013" "g.24710917C>G" "" "" "" "TINF2(NM_012461.2):c.363G>C (p.L121=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24241711C>G" "" "likely benign" "" "0000623132" "0" "30" "14" "24709057" "24709057" "subst" "7.71599E-5" "02326" "GMPR2_000009" "g.24709057G>A" "" "" "" "TINF2(NM_001099274.1):c.1302C>T (p.H434=), TINF2(NM_001099274.3):c.1302C>T (p.H434=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24239851G>A" "" "likely benign" "" "0000648877" "1" "30" "14" "24709325" "24709325" "subst" "0.000125924" "03575" "GMPR2_000003" "g.24709325A>G" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs192423622}" "Germline" "" "rs192423622" "0" "" "" "g.24240119A>G" "" "likely benign" "" "0000648878" "1" "90" "14" "24709841" "24709841" "subst" "0" "03575" "TINF2_000013" "g.24709841C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs121918544}" "Germline" "" "rs121918544" "0" "" "" "g.24240635C>T" "" "pathogenic" "" "0000657430" "0" "30" "14" "24709059" "24709059" "subst" "0" "01943" "GMPR2_000014" "g.24709059G>A" "" "" "" "TINF2(NM_001099274.1):c.1300C>T (p.H434Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24239853G>A" "" "likely benign" "" "0000657431" "0" "30" "14" "24709506" "24709506" "subst" "0.00551209" "01804" "TINF2_000035" "g.24709506C>T" "" "" "" "TINF2(NM_001099274.1):c.1092G>A (p.L364=, p.(Leu364=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24240300C>T" "" "likely benign" "" "0000657432" "0" "30" "14" "24709867" "24709867" "subst" "2.03216E-5" "02326" "GMPR2_000004" "g.24709867G>A" "" "" "" "TINF2(NM_012461.2):c.819C>T (p.A273=), TINF2(NM_012461.3):c.819C>T (p.A273=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24240661G>A" "" "likely benign" "" "0000657433" "0" "30" "14" "24709952" "24709952" "subst" "0.00114068" "02326" "TINF2_000003" "g.24709952G>T" "" "" "" "TINF2(NM_001099274.1):c.734C>A (p.(Ser245Tyr)), TINF2(NM_001099274.3):c.734C>A (p.S245Y), TINF2(NM_012461.2):c.734C>A (p.S245Y), TINF2(NM_012461.3)..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24240746G>T" "" "likely benign" "" "0000691649" "0" "50" "14" "24710453" "24710453" "subst" "0" "01943" "GMPR2_000015" "g.24710453A>G" "" "" "" "TINF2(NM_001099274.1):c.464T>C (p.(Leu155Ser)), TINF2(NM_012461.2):c.464T>C (p.L155S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724747" "0" "90" "14" "24710273" "24710273" "del" "0" "01943" "TINF2_000031" "g.24710273del" "" "" "" "TINF2(NM_012461.2):c.557delC (p.S186Ffs*24)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000724748" "0" "30" "14" "24711465" "24711465" "subst" "0.00177334" "01943" "TINF2_000032" "g.24711465C>G" "" "" "" "TINF2(NM_012461.2):c.74G>C (p.G25A), TINF2(NM_012461.3):c.74G>C (p.G25A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000764727" "0" "70" "14" "24709842" "24709842" "subst" "0" "00006" "TINF2_000012" "g.24709842G>A" "" "{PMID:Tsangaris 2011:21659346}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.24240636G>A" "" "likely pathogenic (recessive)" "" "0000764728" "0" "70" "14" "24709841" "24709841" "subst" "0" "00006" "TINF2_000013" "g.24709841C>T" "" "{PMID:Tsangaris 2011:21659346}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.24240635C>T" "" "likely pathogenic (recessive)" "" "0000764729" "0" "70" "14" "24709839" "24709839" "subst" "0" "00006" "TINF2_000014" "g.24709839G>A" "" "{PMID:Tsangaris 2011:21659346}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.24240633G>A" "" "likely pathogenic (recessive)" "" "0000764730" "0" "70" "14" "24709826" "24709826" "subst" "0" "00006" "TINF2_000023" "g.24709826A>G" "" "{PMID:Tsangaris 2011:21659346}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.24240620A>G" "" "likely pathogenic (recessive)" "" "0000806384" "0" "50" "14" "24711501" "24711501" "subst" "0" "02325" "GMPR2_000016" "g.24711501C>A" "" "" "" "TINF2(NM_001099274.3):c.38G>T (p.R13L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853820" "0" "30" "14" "24709057" "24709057" "subst" "7.71599E-5" "01943" "GMPR2_000009" "g.24709057G>A" "" "" "" "TINF2(NM_001099274.1):c.1302C>T (p.H434=), TINF2(NM_001099274.3):c.1302C>T (p.H434=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863547" "0" "10" "14" "24709123" "24709123" "subst" "0.00465426" "01804" "GMPR2_000017" "g.24709123G>A" "" "" "" "TINF2(NM_001099274.1):c.1236C>T (p.(Asn412=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000891765" "0" "50" "14" "24709701" "24709701" "subst" "0" "02325" "GMPR2_000018" "g.24709701T>C" "" "" "" "TINF2(NM_001099274.3):c.985A>G (p.K329E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000891766" "0" "50" "14" "24709952" "24709952" "subst" "0.00114068" "02325" "TINF2_000003" "g.24709952G>T" "" "" "" "TINF2(NM_001099274.1):c.734C>A (p.(Ser245Tyr)), TINF2(NM_001099274.3):c.734C>A (p.S245Y), TINF2(NM_012461.2):c.734C>A (p.S245Y), TINF2(NM_012461.3)..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000891767" "0" "50" "14" "24710453" "24710453" "subst" "0" "01804" "GMPR2_000015" "g.24710453A>G" "" "" "" "TINF2(NM_001099274.1):c.464T>C (p.(Leu155Ser)), TINF2(NM_012461.2):c.464T>C (p.L155S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914183" "0" "50" "14" "24709275" "24709275" "subst" "4.06134E-6" "02325" "GMPR2_000002" "g.24709275C>T" "" "" "" "TINF2(NM_001099274.1):c.1216G>A (p.G406R), TINF2(NM_001099274.3):c.1216G>A (p.G406R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925867" "0" "50" "14" "24709623" "24709626" "del" "0" "02325" "GMPR2_000019" "g.24709623_24709626del" "" "" "" "TINF2(NM_001099274.3):c.1061+4_1061+7delAGTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925868" "0" "70" "14" "24710467" "24710468" "ins" "0" "02326" "GMPR2_000020" "g.24710467_24710468insTGATC" "" "" "" "TINF2(NM_001099274.3):c.450_451insATCAG (p.L151Ifs*26)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000980862" "0" "70" "14" "24709642" "24709642" "del" "4.06128E-6" "02327" "GMPR2_000022" "g.24709642del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001000945" "0" "30" "14" "24708755" "24708755" "subst" "0" "01804" "GMPR2_000023" "g.24708755C>T" "" "" "" "TINF2(NM_001099274.1):c.*248G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000946" "0" "30" "14" "24709259" "24709259" "subst" "4.06098E-6" "01804" "GMPR2_000024" "g.24709259T>C" "" "" "" "TINF2(NM_012461.2):c.*362A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000948" "0" "90" "14" "24709841" "24709841" "subst" "0" "01804" "TINF2_000013" "g.24709841C>T" "" "" "" "TINF2(NM_001099274.1):c.845G>A (p.(Arg282His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001000949" "0" "30" "14" "24709952" "24709952" "subst" "0.00114068" "01804" "TINF2_000003" "g.24709952G>T" "" "" "" "TINF2(NM_001099274.1):c.734C>A (p.(Ser245Tyr)), TINF2(NM_001099274.3):c.734C>A (p.S245Y), TINF2(NM_012461.2):c.734C>A (p.S245Y), TINF2(NM_012461.3)..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000950" "0" "30" "14" "24710240" "24710240" "subst" "7.71592E-5" "01804" "GMPR2_000026" "g.24710240C>T" "" "" "" "TINF2(NM_001099274.1):c.590G>A (p.(Gly197Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000951" "0" "50" "14" "24710264" "24710264" "subst" "0" "01804" "GMPR2_000027" "g.24710264C>T" "" "" "" "TINF2(NM_001099274.1):c.566G>A (p.(Trp189*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015151" "0" "50" "14" "24709773" "24709773" "subst" "8.12203E-6" "02329" "TINF2_000036" "g.24709773T>C" "" "" "" "TINF2(NM_001099274.3):c.913A>G (p.S305G), TINF2(NM_012461.2):c.913A>G (p.S305G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039932" "0" "30" "14" "24709123" "24709123" "subst" "0.00465426" "02327" "GMPR2_000017" "g.24709123G>A" "" "" "" "TINF2(NM_001099274.1):c.1236C>T (p.(Asn412=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039933" "0" "30" "14" "24709325" "24709325" "subst" "0.000125924" "01804" "GMPR2_000003" "g.24709325A>G" "" "" "" "TINF2(NM_001099274.1):c.1166T>C (p.I389T), TINF2(NM_001099274.3):c.1166T>C (p.(Ile389Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039934" "0" "50" "14" "24709511" "24709511" "subst" "0" "01804" "GMPR2_000028" "g.24709511G>A" "" "" "" "TINF2(NM_001099274.3):c.1087C>T (p.(Pro363Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039935" "0" "90" "14" "24709842" "24709842" "subst" "0" "02327" "TINF2_000012" "g.24709842G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001046469" "0" "10" "14" "24709506" "24709506" "subst" "0.00551209" "02327" "TINF2_000035" "g.24709506C>T" "" "" "" "TINF2(NM_001099274.1):c.1092G>A (p.L364=, p.(Leu364=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 TINF2 ## Count = 89 "{{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}}" "0000163269" "00021156" "90" "640" "0" "640" "0" "c.640C>T" "r.(?)" "p.(Pro214Ser)" "6" "0000163270" "00021156" "90" "706" "0" "706" "0" "c.706C>T" "r.(?)" "p.(Pro236Ser)" "6" "0000163271" "00021156" "90" "734" "0" "734" "0" "c.734C>A" "r.(?)" "p.(Ser245Tyr)" "6" "0000163272" "00021156" "90" "811" "0" "811" "0" "c.811C>T" "r.(?)" "p.(Gln271*)" "6" "0000163273" "00021156" "90" "805" "0" "805" "0" "c.805C>T" "r.(?)" "p.(Gln269*)" "6" "0000163274" "00021156" "90" "805" "0" "805" "0" "c.805C>T" "r.(?)" "p.(Gln269*)" "6" "0000163275" "00021156" "90" "826" "0" "826" "0" "c.826del" "r.(?)" "p.(Arg276Glyfs*41)" "6" "0000163276" "00021156" "90" "838" "0" "838" "0" "c.838A>T" "r.(?)" "p.(Lys280*)" "6" "0000163277" "00021156" "90" "838" "0" "838" "0" "c.838A>G" "r.(?)" "p.(Lys280Glu)" "6" "0000163278" "00021156" "90" "839" "0" "839" "0" "c.839del" "r.(?)" "p.(Lys280ArgfsTer37)" "6" "0000163279" "00021156" "90" "841" "0" "841" "0" "c.841G>A" "r.(?)" "p.(Glu281Lys)" "6" "0000163280" "00021156" "90" "844" "0" "844" "0" "c.844C>A" "r.(?)" "p.(Arg282Ser)" "6" "0000163281" "00021156" "90" "844" "0" "844" "0" "c.844C>T" "r.(?)" "p.(Arg282Cys)" "6" "0000163282" "00021156" "90" "845" "0" "845" "0" "c.845G>A" "r.(?)" "p.(Arg282His)" "6" "0000163283" "00021156" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Pro283Ser)" "6" "0000163284" "00021156" "90" "847" "0" "847" "0" "c.847C>G" "r.(?)" "p.(Pro283Ala)" "6" "0000163285" "00021156" "90" "848" "0" "848" "0" "c.848C>A" "r.(?)" "p.(Pro283His)" "6" "0000163286" "00021156" "90" "849" "0" "849" "0" "c.849del" "r.(?)" "p.(Thr284Glnfs*33)" "6" "0000163287" "00021156" "90" "849" "0" "849" "0" "c.849dup" "r.(?)" "p.(Thr284Hisfs*8)" "6" "0000163288" "00021156" "90" "850" "0" "850" "0" "c.850A>G" "r.(?)" "p.(Thr284Ala)" "6" "0000163289" "00021156" "90" "851" "0" "851" "0" "c.851C>A" "r.(?)" "p.(Thr284Lys)" "6" "0000163290" "00021156" "90" "851" "0" "851" "0" "c.851C>G" "r.(?)" "p.(Thr284Arg)" "6" "0000163291" "00021156" "90" "857" "0" "857" "0" "c.857delinsGC" "r.(?)" "p.(Met286Serfs*5)" "6" "0000163292" "00021156" "90" "860" "0" "860" "0" "c.860T>C" "r.(?)" "p.(Leu287Pro)" "6" "0000163293" "00021156" "90" "865" "0" "866" "0" "c.865_866delinsAG" "r.(?)" "p.(Pro289Ser)" "6" "0000163294" "00021156" "90" "867" "0" "867" "0" "c.867dup" "r.(?)" "p.(Phe290Leufs*2)" "6" "0000163295" "00021156" "90" "871" "0" "871" "0" "c.871A>G" "r.(?)" "p.(Arg291Gly)" "6" "0000163296" "00021156" "90" "892" "0" "892" "0" "c.892del" "r.(?)" "p.(Gln298Argfs*19)" "6" "0000311856" "00021156" "10" "74" "0" "74" "0" "c.74G>C" "r.(?)" "p.(Gly25Ala)" "" "0000316621" "00021156" "30" "1092" "0" "1092" "0" "c.1092G>A" "r.(?)" "p.(Leu364=)" "" "0000316622" "00021156" "30" "1284" "0" "1284" "0" "c.1284C>T" "r.(?)" "p.(Tyr428=)" "" "0000316623" "00021156" "30" "1312" "0" "1312" "0" "c.1312C>G" "r.(?)" "p.(Pro438Ala)" "" "0000316624" "00021156" "50" "28" "0" "28" "0" "c.28G>T" "r.(?)" "p.(Ala10Ser)" "" "0000316625" "00021156" "30" "771" "0" "771" "0" "c.771C>T" "r.(?)" "p.(His257=)" "" "0000316626" "00021156" "30" "913" "0" "913" "0" "c.913A>G" "r.(?)" "p.(Ser305Gly)" "" "0000323623" "00021156" "30" "5036" "0" "5036" "0" "c.*3680G>A" "r.(=)" "p.(=)" "" "0000345222" "00021156" "70" "604" "0" "604" "0" "c.604G>C" "r.(?)" "p.(Glu202Gln)" "" "0000345918" "00021156" "30" "74" "0" "74" "0" "c.74G>C" "r.(?)" "p.(Gly25Ala)" "" "0000348797" "00021156" "70" "557" "0" "557" "0" "c.557del" "r.(?)" "p.(Ser186PhefsTer24)" "" "0000552440" "00021156" "50" "1312" "0" "1312" "0" "c.1312C>G" "r.(?)" "p.(Pro438Ala)" "" "0000552441" "00021156" "50" "1216" "0" "1216" "0" "c.1216G>A" "r.(?)" "p.(Gly406Arg)" "" "0000552442" "00021156" "50" "1166" "0" "1166" "0" "c.1166T>C" "r.(?)" "p.(Ile389Thr)" "" "0000552443" "00021156" "30" "819" "0" "819" "0" "c.819C>T" "r.(?)" "p.(Ala273=)" "" "0000552444" "00021156" "50" "734" "0" "734" "0" "c.734C>A" "r.(?)" "p.(Ser245Tyr)" "" "0000552446" "00021156" "50" "604" "0" "604" "0" "c.604G>C" "r.(?)" "p.(Glu202Gln)" "" "0000552447" "00021156" "50" "604" "0" "604" "0" "c.604G>C" "r.(?)" "p.(Glu202Gln)" "" "0000552448" "00021156" "30" "315" "0" "315" "0" "c.315G>A" "r.(?)" "p.(Arg105=)" "" "0000552449" "00021156" "30" "193" "-7" "193" "-7" "c.193-7C>G" "r.(=)" "p.(=)" "" "0000614940" "00021156" "30" "1309" "0" "1309" "0" "c.1309A>G" "r.(?)" "p.(Ile437Val)" "" "0000614941" "00021156" "50" "858" "0" "858" "0" "c.858G>C" "r.(?)" "p.(Met286Ile)" "" "0000614942" "00021156" "30" "723" "0" "723" "0" "c.723T>A" "r.(?)" "p.(Pro241=)" "" "0000614943" "00021156" "30" "578" "0" "578" "0" "c.578G>C" "r.(?)" "p.(Gly193Ala)" "" "0000614944" "00021156" "30" "363" "0" "363" "0" "c.363G>C" "r.(?)" "p.(Leu121=)" "" "0000623132" "00021156" "30" "1302" "0" "1302" "0" "c.1302C>T" "r.(?)" "p.(His434=)" "" "0000648877" "00021156" "30" "1166" "0" "1166" "0" "c.1166T>C" "r.(?)" "p.(Ile389Thr)" "" "0000648878" "00021156" "90" "845" "0" "845" "0" "c.845G>A" "r.(?)" "p.(Arg282His)" "" "0000657430" "00021156" "30" "1300" "0" "1300" "0" "c.1300C>T" "r.(?)" "p.(His434Tyr)" "" "0000657431" "00021156" "30" "1092" "0" "1092" "0" "c.1092G>A" "r.(?)" "p.(Leu364=)" "" "0000657432" "00021156" "30" "819" "0" "819" "0" "c.819C>T" "r.(?)" "p.(Ala273=)" "" "0000657433" "00021156" "30" "734" "0" "734" "0" "c.734C>A" "r.(?)" "p.(Ser245Tyr)" "" "0000691649" "00021156" "50" "464" "0" "464" "0" "c.464T>C" "r.(?)" "p.(Leu155Ser)" "" "0000724747" "00021156" "90" "557" "0" "557" "0" "c.557del" "r.(?)" "p.(Ser186PhefsTer24)" "" "0000724748" "00021156" "30" "74" "0" "74" "0" "c.74G>C" "r.(?)" "p.(Gly25Ala)" "" "0000764727" "00021156" "70" "844" "0" "844" "0" "c.844C>T" "r.(?)" "p.(Arg282Cys)" "" "0000764728" "00021156" "70" "845" "0" "845" "0" "c.845G>A" "r.(?)" "p.(Arg282His)" "" "0000764729" "00021156" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Pro283Ser)" "" "0000764730" "00021156" "70" "860" "0" "860" "0" "c.860T>C" "r.(?)" "p.(Leu287Pro)" "" "0000806384" "00021156" "50" "38" "0" "38" "0" "c.38G>T" "r.(?)" "p.(Arg13Leu)" "" "0000853820" "00021156" "30" "1302" "0" "1302" "0" "c.1302C>T" "r.(?)" "p.(His434=)" "" "0000863547" "00021156" "10" "1236" "0" "1236" "0" "c.1236C>T" "r.(?)" "p.(Asn412=)" "" "0000891765" "00021156" "50" "985" "0" "985" "0" "c.985A>G" "r.(?)" "p.(Lys329Glu)" "" "0000891766" "00021156" "50" "734" "0" "734" "0" "c.734C>A" "r.(?)" "p.(Ser245Tyr)" "" "0000891767" "00021156" "50" "464" "0" "464" "0" "c.464T>C" "r.(?)" "p.(Leu155Ser)" "" "0000914183" "00021156" "50" "1216" "0" "1216" "0" "c.1216G>A" "r.(?)" "p.(Gly406Arg)" "" "0000925867" "00021156" "50" "1061" "4" "1061" "7" "c.1061+4_1061+7del" "r.spl?" "p.?" "" "0000925868" "00021156" "70" "450" "0" "451" "0" "c.450_451insATCAG" "r.(?)" "p.(Leu151Ilefs*26)" "" "0000980862" "00021156" "70" "1044" "0" "1044" "0" "c.1044del" "r.(?)" "p.(Ala349Profs*16)" "" "0001000945" "00021156" "30" "1604" "0" "1604" "0" "c.*248G>A" "r.(=)" "p.(=)" "" "0001000946" "00021156" "30" "1221" "11" "1221" "11" "c.1221+11A>G" "r.(=)" "p.(=)" "" "0001000948" "00021156" "90" "845" "0" "845" "0" "c.845G>A" "r.(?)" "p.(Arg282His)" "" "0001000949" "00021156" "30" "734" "0" "734" "0" "c.734C>A" "r.(?)" "p.(Ser245Tyr)" "" "0001000950" "00021156" "30" "590" "0" "590" "0" "c.590G>A" "r.(?)" "p.(Gly197Glu)" "" "0001000951" "00021156" "50" "566" "0" "566" "0" "c.566G>A" "r.(?)" "p.(Trp189*)" "" "0001015151" "00021156" "50" "913" "0" "913" "0" "c.913A>G" "r.(?)" "p.(Ser305Gly)" "" "0001039932" "00021156" "30" "1236" "0" "1236" "0" "c.1236C>T" "r.(?)" "p.(Asn412=)" "" "0001039933" "00021156" "30" "1166" "0" "1166" "0" "c.1166T>C" "r.(?)" "p.(Ile389Thr)" "" "0001039934" "00021156" "50" "1087" "0" "1087" "0" "c.1087C>T" "r.(?)" "p.(Pro363Ser)" "" "0001039935" "00021156" "90" "844" "0" "844" "0" "c.844C>T" "r.(?)" "p.(Arg282Cys)" "" "0001046469" "00021156" "10" "1092" "0" "1092" "0" "c.1092G>A" "r.(?)" "p.(Leu364=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 34 "{{screeningid}}" "{{variantid}}" "0000100878" "0000163269" "0000100879" "0000163270" "0000100880" "0000163271" "0000100881" "0000163272" "0000100882" "0000163273" "0000100883" "0000163274" "0000100884" "0000163275" "0000100885" "0000163276" "0000100886" "0000163277" "0000100887" "0000163278" "0000100888" "0000163279" "0000100889" "0000163280" "0000100890" "0000163281" "0000100891" "0000163282" "0000100892" "0000163283" "0000100893" "0000163284" "0000100894" "0000163285" "0000100895" "0000163286" "0000100896" "0000163287" "0000100897" "0000163288" "0000100898" "0000163289" "0000100899" "0000163290" "0000100900" "0000163291" "0000100901" "0000163292" "0000100902" "0000163293" "0000100903" "0000163294" "0000100904" "0000163295" "0000100905" "0000163296" "0000292188" "0000648877" "0000292189" "0000648878" "0000364017" "0000764727" "0000364018" "0000764728" "0000364019" "0000764729" "0000364020" "0000764730"