### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = LAT) # 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}}" "LAT" "linker for activation of T cells" "16" "q13" "unknown" "NC_000016.9" "UD_132462962139" "" "https://www.LOVD.nl/LAT" "" "1" "18874" "27040" "602354" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/LAT_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-05-23 17:00:16" "00000" "2022-11-01 13:41:49" ## 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}}" "00010978" "LAT" "transcript variant 2" "003" "NM_001014987.1" "" "NP_001014987.1" "" "" "" "-352" "1304" "702" "28996387" "29002104" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{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" "04187" "POF" "ovarian failure, premature (POF)" "" "" "" "" "" "00006" "2015-02-14 15:50:12" "00006" "2015-12-08 23:53:05" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05292" "IMD" "immunodeficiency (IMD)" "" "" "" "" "" "00006" "2017-06-24 18:16:32" "00006" "2017-10-24 17:01:05" "05793" "IMD74" "immunodeficiency, type 74, COVID19-related, X-linked" "XLR" "301051" "" "" "" "00006" "2020-07-24 22:16:50" "00006" "2025-08-26 15:50:59" "06300" "IMD52" "Immunodeficiency, type 52" "AR" "617514" "" "" "" "00006" "2021-12-10 23:20:41" "00006" "2022-05-23 16:58:44" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "LAT" "05292" "LAT" "06300" ## Individuals ## Do not remove or alter this header ## ## Count = 14 "{{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}}" "00050458" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050683" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected sibling(s)" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00334304" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334376" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334498" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334523" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334876" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334918" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00335006" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00335037" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00335038" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00335042" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00390025" "" "" "" "1" "" "00000" "{PMID:Ruberto 2020:32507954}" "" "?" "" "Italy" "" "0" "" "" "" "3" "00408189" "" "" "" "2" "" "04217" "{PMID:Chu 2021:34868246}" "3 generation family, 2 affected sisters (2F), 1 affected, unaffected heterozygous carrier parents" "F" "?" "China" ">31y" "0" "" "" "" "FamPatII1/2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 14 "{{individualid}}" "{{diseaseid}}" "00050458" "00198" "00050683" "00198" "00334304" "05793" "00334376" "05793" "00334498" "05793" "00334523" "05793" "00334876" "05793" "00334918" "05793" "00335006" "05793" "00335037" "05793" "00335038" "05793" "00335042" "05793" "00390025" "04214" "00408189" "04187" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 04187, 04214, 05292, 05793, 06300 ## Count = 14 "{{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}}" "0000037070" "00198" "00050458" "00006" "Isolated (sporadic)" "" "microcephaly, intrauterine growth retardation, global developmental delay, abnormal size of the palpebral fissures, prominent nose, short 4th metacarpal, clinodactyly of the 5th finger, cutaneous syndactyly of toes, aggressive behavior" "" "" "" "" "" "" "" "" "" "" "" "0000037295" "00198" "00050683" "00006" "Unknown" "" "microcephaly, abnormality of the outer ear, prominent metopic ridge, narrow mouth, inferior vermis hypoplasia, delayed speech and language development" "" "" "" "" "" "" "" "" "" "" "" "0000253114" "05793" "00334304" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253170" "05793" "00334376" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253211" "05793" "00334498" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253217" "05793" "00334523" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253269" "05793" "00334876" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253273" "05793" "00334918" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253288" "05793" "00335006" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253319" "05793" "00335037" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253320" "05793" "00335038" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253324" "05793" "00335042" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000283565" "04214" "00390025" "00000" "Unknown" "11m" "Pale and tilted optic disk associated to hypoplasia, tortuous retinal vessels, non-homogeneous macula" "" "" "" "" "" "" "" "" "Retinal dystrophy" "" "" "0000300319" "04187" "00408189" "04217" "Familial, autosomal recessive" "29y" "" "" "31y" "oligomenorrhea (HP:0000876); Female infertility (HP:0008222)" "" "" "" "" "" "POF" "Diminished ovarian reserve (DOR)" "" ## Screenings ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050403" "00050458" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050628" "00050683" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000335532" "00334304" "1" "04011" "04011" "2021-02-27 06:42:14" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335604" "00334376" "1" "04011" "04011" "2021-02-28 10:56:47" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335727" "00334498" "1" "04011" "04011" "2021-03-01 06:59:25" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335751" "00334523" "1" "04011" "04011" "2021-03-01 10:57:35" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336105" "00334876" "1" "04011" "04011" "2021-03-02 09:44:29" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336148" "00334918" "1" "04011" "04011" "2021-03-02 13:22:00" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336235" "00335006" "1" "04011" "04011" "2021-03-03 01:28:35" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336266" "00335037" "1" "04011" "04011" "2021-03-03 06:11:42" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336267" "00335038" "1" "04011" "04011" "2021-03-03 06:18:02" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336271" "00335042" "1" "04011" "04011" "2021-03-03 06:38:11" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000391266" "00390025" "1" "00000" "03840" "2021-11-08 12:01:50" "" "" "arrayCGH" "DNA" "" "targeted sequencing with 1 of 4 panels of OFTALMOgenics probes" "0000409444" "00408189" "1" "04217" "04217" "2022-04-17 00:07:56" "" "" "PCR;SEQ-NG" "DNA;protein" "Blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000391266" "CLN3" ## 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 = 28 "{{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}}" "0000079383" "0" "90" "16" "21530207" "29332245" "del" "0" "00006" "CLN3_000009" "g.21530207_29332245del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "g.21518886_29320924del" "" "pathogenic" "" "0000079608" "0" "90" "16" "27183151" "31888684" "dup" "0" "00006" "CLN3_000010" "g.27183151_31888684dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "mosaicism, copy number 3 in 0.33 cells" "Somatic" "" "" "0" "" "" "g.27171830_31877363dup" "" "pathogenic" "" "0000324690" "0" "30" "16" "28993852" "28993852" "subst" "0" "01804" "SPNS1_000001" "g.28993852A>G" "" "" "" "SPNS1(NM_001142448.1):c.1141A>G (p.(Ile381Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28982531A>G" "" "likely benign" "" "0000557793" "0" "30" "16" "28997868" "28997868" "subst" "0.0027475" "01943" "LAT_000001" "g.28997868T>C" "" "" "" "LAT(NM_014387.3):c.318T>C (p.S106=), LAT(NM_014387.4):c.318T>C (p.S106=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28986547T>C" "" "likely benign" "" "0000557794" "0" "30" "16" "28997868" "28997868" "subst" "0.0027475" "02326" "LAT_000001" "g.28997868T>C" "" "" "" "LAT(NM_014387.3):c.318T>C (p.S106=), LAT(NM_014387.4):c.318T>C (p.S106=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28986547T>C" "" "likely benign" "" "0000557795" "0" "30" "16" "28997940" "28997940" "subst" "0.00164625" "01943" "LAT_000002" "g.28997940G>A" "" "" "" "LAT(NM_014387.3):c.390G>A (p.P130=), LAT(NM_014387.4):c.390G>A (p.P130=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28986619G>A" "" "likely benign" "" "0000557796" "0" "30" "16" "28997940" "28997940" "subst" "0.00164625" "02326" "LAT_000002" "g.28997940G>A" "" "" "" "LAT(NM_014387.3):c.390G>A (p.P130=), LAT(NM_014387.4):c.390G>A (p.P130=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28986619G>A" "" "likely benign" "" "0000680519" "0" "50" "16" "28997734" "28997734" "subst" "4.10058E-6" "01943" "LAT_000003" "g.28997734C>T" "" "" "" "LAT(NM_014387.3):c.277C>T (p.R93W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000733999" "0" "70" "16" "28997060" "28997060" "subst" "0" "04011" "LAT_000004" "g.28997060G>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734240" "0" "70" "16" "28996757" "28996757" "subst" "0.000748333" "04011" "LAT_000004" "g.28996757G>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734508" "0" "70" "16" "28996749" "28996749" "subst" "0" "04011" "LAT_000005" "g.28996749C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734567" "0" "70" "16" "28996757" "28996757" "subst" "0.000748333" "04011" "LAT_000004" "g.28996757G>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735139" "0" "70" "16" "28998167" "28998167" "subst" "2.03112E-5" "04011" "LAT_000007" "g.28998167C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735238" "0" "70" "16" "28997537" "28997537" "subst" "0.00128406" "04011" "LAT_000006" "g.28997537C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735397" "0" "70" "16" "28996757" "28996757" "subst" "0.000748333" "04011" "LAT_000004" "g.28996757G>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735509" "0" "70" "16" "28996757" "28996757" "subst" "0.000748333" "04011" "LAT_000004" "g.28996757G>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735520" "0" "70" "16" "28997537" "28997537" "subst" "0.00128406" "04011" "LAT_000006" "g.28997537C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735539" "0" "70" "16" "28997537" "28997537" "subst" "0.00128406" "04011" "LAT_000006" "g.28997537C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000807338" "0" "30" "16" "28996234" "28996234" "subst" "0.00374337" "02326" "LAT_000008" "g.28996234G>T" "" "" "" "LAT(NM_001014989.2):c.52G>T (p.A18S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807339" "0" "30" "16" "29001171" "29001171" "subst" "0.00321847" "02326" "LAT_000009" "g.29001171C>T" "" "" "" "LAT(NM_001014987.2):c.622+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807340" "0" "30" "16" "29001288" "29001288" "subst" "1.62666E-5" "01943" "LAT_000010" "g.29001288G>A" "" "" "" "LAT(NM_014387.3):c.744G>A (p.E248=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000820998" "0" "70" "16" "28100001" "34600000" "del" "0" "00000" "CRYM_000000" "g.28100001_34600000del" "" "{PMID:Ruberto 2020:32507954}" "" "CGH array, microdeletion in 16p11.2" "zygosity not written; probable breakpoints; pathogenic in literature; genes ANKS4B,CRYM,NPIPB3,SMG1P3,RRN3P3,MIR3680-1,MIR3680-2,SLC7A5P2,LOC101927814,METTL9,IGSF6,OTOA,OTOAP1,RRN3P1,NPIPB4,NPIPB5,UQCRC2,PDZD9,MOSMO,VWA3A,EEF2K,POLR3E,CDR2,MFSD13B,HS3ST2,USP31,SCNN1G,SCNN1B,COG7,GGA2,EARS2,UBFD1,NDUFAB1,PALB2,DCTN5,PLK1,ERN2,CHP2" "Unknown" "?" "" "0" "" "" "g.28500001_35300000del" "" "likely pathogenic" "" "0000846613" "11" "90" "16" "28997537" "28997537" "subst" "0.00128406" "04217" "LAT_000006" "g.28997537C>T" "" "{PMID:Chu 2021:34868246}" "" "" "" "Germline" "yes" "" "0" "" "" "g.28986216C>T" "" "pathogenic (recessive)" "" "0000846614" "21" "90" "16" "28997473" "28997473" "subst" "0" "04217" "LAT_000011" "g.28997473C>G" "" "{PMID:Chu 2021:34868246}" "" "" "" "Germline" "yes" "" "0" "" "" "g.28986152C>G" "" "pathogenic (recessive)" "" "0000864738" "0" "30" "16" "28997041" "28997041" "subst" "0.000393989" "01943" "LAT_000012" "g.28997041C>T" "" "" "" "LAT(NM_001014987.2):c.108C>T (p.Y36=), LAT(NM_014387.3):c.108C>T (p.Y36=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892909" "0" "30" "16" "28997041" "28997041" "subst" "0.000393989" "02326" "LAT_000012" "g.28997041C>T" "" "" "" "LAT(NM_001014987.2):c.108C>T (p.Y36=), LAT(NM_014387.3):c.108C>T (p.Y36=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892910" "0" "30" "16" "28997075" "28997075" "subst" "0.00428187" "02326" "LAT_000013" "g.28997075A>G" "" "" "" "LAT(NM_001014987.2):c.128+14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892911" "0" "30" "16" "29000867" "29000867" "subst" "0.000617253" "02326" "LAT_000014" "g.29000867C>T" "" "" "" "LAT(NM_001014987.2):c.513C>T (p.Y171=)" "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 LAT ## Count = 28 "{{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}}" "0000079383" "00010978" "00" "-7466532" "0" "331445" "0" "c.-7466532_*330743del" "r.0?" "p.0?" "" "0000079608" "00010978" "00" "-1813588" "0" "2887884" "0" "c.-1813588_*2887182dup" "" "" "" "0000324690" "00010978" "30" "-2887" "0" "-2887" "0" "c.-2887A>G" "r.(?)" "p.(=)" "" "0000557793" "00010978" "30" "318" "0" "318" "0" "c.318T>C" "r.(?)" "p.(Ser106=)" "" "0000557794" "00010978" "30" "318" "0" "318" "0" "c.318T>C" "r.(?)" "p.(Ser106=)" "" "0000557795" "00010978" "30" "341" "-38" "341" "-38" "c.341-38G>A" "r.(=)" "p.(=)" "" "0000557796" "00010978" "30" "341" "-38" "341" "-38" "c.341-38G>A" "r.(=)" "p.(=)" "" "0000680519" "00010978" "50" "277" "0" "277" "0" "c.277C>T" "r.(?)" "p.(Arg93Trp)" "" "0000733999" "00010978" "50" "19" "0" "19" "0" "c.19G>T" "r.(?)" "p.(Val7Phe)" "" "0000734240" "00010978" "50" "19" "0" "19" "0" "c.19G>T" "r.(?)" "p.(Val7Phe)" "" "0000734508" "00010978" "50" "11" "0" "11" "0" "c.11C>T" "r.(?)" "p.(Ala4Val)" "" "0000734567" "00010978" "50" "19" "0" "19" "0" "c.19G>T" "r.(?)" "p.(Val7Phe)" "" "0000735139" "00010978" "50" "446" "0" "446" "0" "c.446C>T" "r.(?)" "p.(Ser149Leu)" "" "0000735238" "00010978" "50" "245" "0" "245" "0" "c.245C>T" "r.(?)" "p.(Pro82Leu)" "" "0000735397" "00010978" "50" "19" "0" "19" "0" "c.19G>T" "r.(?)" "p.(Val7Phe)" "" "0000735509" "00010978" "50" "19" "0" "19" "0" "c.19G>T" "r.(?)" "p.(Val7Phe)" "" "0000735520" "00010978" "50" "245" "0" "245" "0" "c.245C>T" "r.(?)" "p.(Pro82Leu)" "" "0000735539" "00010978" "50" "245" "0" "245" "0" "c.245C>T" "r.(?)" "p.(Pro82Leu)" "" "0000807338" "00010978" "30" "-505" "0" "-505" "0" "c.-505G>T" "r.(?)" "p.(=)" "" "0000807339" "00010978" "30" "622" "11" "622" "11" "c.622+11C>T" "r.(=)" "p.(=)" "" "0000807340" "00010978" "30" "657" "0" "657" "0" "c.657G>A" "r.(?)" "p.(Glu219=)" "" "0000820998" "00010978" "70" "-896738" "0" "5599200" "0" "c.-896738_*5598498del" "r.0?" "p.0?" "" "0000846613" "00010978" "90" "245" "0" "245" "0" "c.245C>T" "r.(?)" "p.(Pro82Leu)" "" "0000846614" "00010978" "90" "181" "0" "181" "0" "c.181C>G" "r.(?)" "p.(Pro61Ala)" "" "0000864738" "00010978" "30" "108" "0" "108" "0" "c.108C>T" "r.(?)" "p.(Tyr36=)" "" "0000892909" "00010978" "30" "108" "0" "108" "0" "c.108C>T" "r.(?)" "p.(Tyr36=)" "" "0000892910" "00010978" "30" "128" "14" "128" "14" "c.128+14A>G" "r.(=)" "p.(=)" "" "0000892911" "00010978" "30" "513" "0" "513" "0" "c.513C>T" "r.(?)" "p.(Tyr171=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{variantid}}" "0000050403" "0000079383" "0000050628" "0000079608" "0000335532" "0000733999" "0000335604" "0000734240" "0000335727" "0000734508" "0000335751" "0000734567" "0000336105" "0000735139" "0000336148" "0000735238" "0000336235" "0000735397" "0000336266" "0000735509" "0000336267" "0000735520" "0000336271" "0000735539" "0000391266" "0000820998" "0000409444" "0000846613" "0000409444" "0000846614"