### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = IARS2) # 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}}" "IARS2" "isoleucyl-tRNA synthetase 2, mitochondrial" "1" "q41" "unknown" "NG_041799.1" "UD_134712702060" "" "https://www.LOVD.nl/IARS2" "" "1" "29685" "55699" "612801" "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/IARS2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-04-09 20:32:14" "00000" "2025-11-01 13:22:20" ## 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}}" "00009760" "IARS2" "isoleucyl-tRNA synthetase 2, mitochondrial" "001" "NM_018060.3" "" "NP_060530.3" "" "" "" "-104" "3445" "3039" "220267455" "220321383" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{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" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04505" "CAGSSS" "cataracts?, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia (CAGSSS)" "AR" "616007" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "IARS2" "04505" ## 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}}" "00163754" "" "" "" "1" "" "02404" "{PMID:Vona 2018:30419932}" "5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Iran" "" "0" "Yes" "" "" "Fam1PatV3" "00163757" "" "" "" "3" "" "00006" "{PMID:Schwartzentruber 2014:25130867}" "7-generation family, 3 affecteds (2F, 1M), unaffected heterozygous carrier parents/relatives" "M" "yes" "Canada" "" "0" "" "" "French-Canadian" "FamPatVII1" "00163758" "" "" "" "1" "" "00006" "{PMID:Schwartzentruber 2014:25130867}" "" "M" "" "United States" "01y06m" "0" "" "" "white, Scandinavian" "Fam2Pat4" "00181201" "" "" "" "2" "" "02404" "{PMID:Vona 2018:30419932}" "4-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives" "F" "yes" "Iran" "" "0" "" "" "" "Fam2PatIV1" "00296727" "" "" "00181201" "1" "" "00006" "{PMID:Vona 2018:30419932}" "sister" "F" "" "Iran" "" "0" "" "" "" "Fam2PatIV4" "00296728" "" "" "00163757" "1" "" "00006" "{PMID:Schwartzentruber 2014:25130867}," "" "F" "yes" "Canada" "" "0" "" "" "French-Canadian" "FamPat2" "00296729" "" "" "00163757" "1" "" "00006" "{PMID:Schwartzentruber 2014:25130867}" "" "M" "yes" "Canada" "" "0" "" "" "French-Canadian" "FamPat3" "00296730" "" "" "" "1" "" "00006" "{PMID:Moosa 2017:28328135}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Denmark" "" "0" "" "" "" "Pat" "00296731" "" "" "" "2" "" "00006" "{PMID:Takezawa 2018:30041933}" "2-generation family, 2 sisters, unaffected heterozygous carrier parents" "F" "" "Japan" "" "0" "" "" "" "FamPatII1" "00296732" "" "" "00296731" "1" "" "00006" "{PMID:Takezawa 2018:30041933}" "sister" "F" "no" "Japan" "" "0" "" "" "" "FamPatII2" "00331483" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "F" "yes" "" "" "0" "" "" "Arab" "15DG2022" "00390427" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G001037" "00444340" "" "" "" "1" "" "00006" "{PMID:Li 2018:29914532}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "" "China" "" "0" "" "" "" "FamPat6" "00444341" "" "" "" "2" "" "00006" "{PMID:Li 2018:29914532}" "2-generation family, 2 affected brothers, unaffected heterozygous parents" "M" "" "China" "" "0" "" "" "" "Fam10PatII1/2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 14 "{{individualid}}" "{{diseaseid}}" "00163754" "04505" "00163757" "04505" "00163758" "00198" "00181201" "04505" "00296727" "04505" "00296728" "04505" "00296729" "04505" "00296730" "04505" "00296731" "00198" "00296732" "00198" "00331483" "05517" "00390427" "04214" "00444340" "00296" "00444341" "00296" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00296, 04214, 04505, 05517 ## 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}}" "0000128886" "04505" "00163754" "02404" "Familial, autosomal recessive" "20y08m" "bilateral nystagmus (HP:0000639), congenital cataract (HP:0000519), corneal opacification (HP:0007759), central adrenal insufficiency, growth hormone deficiency, no hypoglycemic episodes, congenital type II esophageal achalasia, short stature, no hip dislocation, mild scoliosis, spondylo-epimeta-physeal dysplasia, no Leigh syndrome, no West syndrome, neurodevelopment delay, no intellectual disability, chronic sensorimotor distal axonal polyneuropathy; 13y-moderate bilateral sensorineural hearing loss" "" "" "" "" "" "" "" "" "CAGSSS with additional type II esophageal achalasia and adrenal insufficiency" "" "" "0000128887" "04505" "00163757" "00006" "Familial, autosomal recessive" "08y" "see paper; ..., 1m-bilateral nystagmus (HP:0000639), 17m-cataract (HP:0000518), 5y-progressive corneal opacification (HP:0007759), adrenal insufficiency, growth hormone deficiency, hypoglycemic episodes, 2y-bilateral sensorineural stable hearing, 32y-type II esophageal achalasia, disproportionate short stature, 2y-hip dislocation, mild scoliosis, spondylo-epimeta-physeal dysplasia, no Leigh syndrome, no West syndrome, mild neurodevelopment delay, no intellectual disability, 9y6m-peripheral neuropathy" "" "" "" "" "" "" "" "" "CAGSSS" "" "" "0000128888" "00198" "00163758" "00006" "Familial, autosomal recessive" "00y18m" "see paper; ..., 18m-deceased, no bilateral nystagmus (-HP:0000639), no cataract (-HP:0000518), no corneal opacification (-HP:0007759), no adrenal insufficiency, hypoglycemic episodes, no hearing loss, no type II esophageal achalasia, no short stature, no hip dislocation, no scoliosis, no spondylo-epimeta-physeal dysplasia, Leigh syndrome features, no West syndrome, neurodevelopment delay, no peripheral neuropathy" "00y00m28d" "" "severe cerebral degeneration" "" "" "" "" "" "Leigh syndrome" "severe cerebral degeneration" "" "0000224127" "04505" "00181201" "00006" "Familial, autosomal recessive" "35y" "bilateral nystagmus (HP:0000639), congenital cataract (HP:0000519), corneal opacification (HP:0007759), no endocrine disturbances, no hypoglycemic episodes, no hearing loss, no type II esophageal achalasia, short stature, no hip dislocation, no spine abnormality, spondylo-epimeta-physeal dysplasia, disproportional shortening first metacarpal, reduced bone density, no Leigh syndrome, no West syndrome, no intellectual disability, no peripheral neuropathy" "" "" "" "" "" "" "" "" "CAGSSS" "" "" "0000224128" "04505" "00296727" "00006" "Familial, autosomal recessive" "27y" "bilateral nystagmus (HP:0000639), congenital cataract (HP:0000519), corneal opacification (HP:0007759), no endocrine disturbances, no hypoglycemic episodes, no hearing loss, no congenital type II esophageal achalasia, short stature, no hip dislocation, no scoliosis, spondylo-epimeta-physeal dysplasia, disproportional shortening first metacarpal, no Leigh syndrome, no West syndrome, no neurodevelopment delay, no intellectual disability, no peripheral neuropathy" "" "" "" "" "" "" "" "" "" "" "" "0000224129" "04505" "00296728" "00006" "Familial, autosomal recessive" "06y" "see paper; ..., 5m-bilateral nystagmus (HP:0000639), 5m-cataract (HP:0000518), 5y-corneal opacification (HP:0007759), no adrenal insufficiency, no hypoglycemic episodes, 21m-moderate bilateral sensorineural hearing loss, no type II esophageal achalasia, short stature, congenital hip dislocation, scoliosis, spondylo-epimeta-physeal dysplasia, no Leigh syndrome, no West syndrome, neurodevelopment delay, early childhood peripheral neuropathy" "" "" "" "" "" "" "" "" "CAGSSS" "" "" "0000224130" "04505" "00296729" "00006" "Familial, autosomal recessive" "16y06m" "see paper; ..., 3m-bilateral nystagmus (HP:0000639), 3m-cataract (HP:0000518), 16y5m-corneal opacification (HP:0007759), no adrenal insufficiency, hypoglycemic episodes, no hearing loss, no type II esophageal achalasia, short stature, 18m-hip dislocation, scoliosis, spondylo-epimeta-physeal dysplasia, no Leigh syndrome, no West syndrome, neurodevelopment delay, no intellectual disability, 8m-peripheral neuropathy" "" "" "" "" "" "" "" "" "CAGSSS" "" "" "0000224131" "04505" "00296730" "00006" "Familial, autosomal recessive" "08y" "see paper; ..., bilateral nystagmus (HP:0000639), 3y-cataract (HP:0000518),no corneal opacification (-HP:0007759), no adrenal insufficiency, no hypoglycemic episodes, 8y-bilateral sensorineural hearing loss, no type II esophageal achalasia, disproportionate short stature (-6SD), congenital hip dislocation, abnormal vertebral bodies, spondylo-epimeta-physeal dysplasia, no Leigh syndrome, no West syndrome, neurodevelopment delay, no intellectual disability, peripheral neuropathy, early childhood pain insensitivity" "" "" "" "" "" "" "" "" "CAGSSS" "" "" "0000224132" "00198" "00296731" "00006" "Familial, autosomal recessive" "08y" "see paper; ..., no bilateral nystagmus (-HP:0000639), congenital cataract (HP:0000518),no corneal opacification (-HP:0007759), no adrenal insufficiency, no hypoglycemic episodes, no hearing loss, no type II esophageal achalasia, short stature, no hip dislocation, spinal abnormalities, no spondylo-epimeta-physeal dysplasia, Leigh syndrome, West syndrome, neurodevelopment delay, no peripheral neuropathy" "00y07m" "" "infantile spasms" "" "" "" "" "" "" "" "" "0000224133" "00198" "00296732" "00006" "Familial, autosomal recessive" "05y" "see paper; ..., no bilateral nystagmus (-HP:0000639), no cataract (-HP:0000518),no corneal opacification (-HP:0007759), no adrenal insufficiency, no hypoglycemic episodes, no hearing loss, no type II esophageal achalasia, short stature, no hip dislocation, spinal abnormalities, no spondylo-epimeta-physeal dysplasia, Leigh syndrome, West syndrome, neurodevelopment delay, no peripheral neuropathy" "" "" "" "" "" "" "" "" "" "" "" "0000249675" "05517" "00331483" "00000" "Familial, autosomal recessive" "" "Congenital cataract, Growth hormone deficiency, Bilateral conductive hearing impairment No" "" "" "" "" "" "" "" "" "" "skeletal dysplasia" "" "0000283965" "04214" "00390427" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000333593" "00296" "00444340" "00006" "Familial, autosomal recessive" "" "perinuclear cararact" "5m" "" "" "" "" "" "" "" "" "cataract" "" "0000333594" "00296" "00444341" "00006" "Familial, autosomal recessive" "" "cataract" "6m" "" "" "" "" "" "" "" "" "cataract" "" ## 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}}" "0000164617" "00163754" "1" "02404" "02404" "2018-04-09 08:01:34" "" "" "SEQ-NG-I" "DNA" "Whole blood" "WES" "0000164619" "00163757" "1" "00006" "00006" "2018-04-09 20:45:46" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000164620" "00163758" "1" "00006" "00006" "2018-04-09 21:01:16" "" "" "SEQ" "DNA;RNA" "" "1092 gene panel" "0000182159" "00181201" "1" "02404" "02404" "2018-10-03 18:51:46" "" "" "SEQ-NG-I" "DNA" "" "" "0000297837" "00296727" "1" "00006" "00006" "2020-04-11 11:17:49" "" "" "SEQ" "DNA" "" "" "0000297838" "00296728" "1" "00006" "00006" "2020-04-11 11:33:56" "" "" "SEQ" "DNA" "" "" "0000297839" "00296729" "1" "00006" "00006" "2020-04-11 11:36:59" "" "" "SEQ" "DNA" "" "" "0000297840" "00296730" "1" "00006" "00006" "2020-04-11 11:56:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000297841" "00296731" "1" "00006" "00006" "2020-04-11 12:22:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000297842" "00296732" "1" "00006" "00006" "2020-04-11 12:26:36" "" "" "SEQ" "DNA" "" "WES" "0000332702" "00331483" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000391668" "00390427" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000445908" "00444340" "1" "00006" "00006" "2023-12-21 22:12:43" "" "" "SEQ;SEQ-NG" "DNA" "" "80 gene panel" "0000445909" "00444341" "1" "00006" "00006" "2023-12-21 22:12:43" "" "" "SEQ;SEQ-NG" "DNA" "" "80 gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{geneid}}" "0000164619" "IARS2" "0000164620" "IARS2" "0000297837" "IARS2" "0000297838" "IARS2" "0000297839" "IARS2" "0000297840" "IARS2" "0000297841" "IARS2" "0000297842" "IARS2" "0000332702" "IARS2" "0000391668" "USH2A" ## 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}}" "0000306692" "0" "30" "1" "220325114" "220325114" "subst" "1.22088E-5" "01943" "RAB3GAP2_000007" "g.220325114T>C" "" "" "" "RAB3GAP2(NM_012414.3):c.3868-8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.220151772T>C" "" "likely benign" "" "0000306693" "0" "10" "1" "220325050" "220325050" "subst" "0.000845281" "01943" "RAB3GAP2_000006" "g.220325050C>G" "" "" "" "RAB3GAP2(NM_012414.3):c.3924G>C (p.T1308=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.220151708C>G" "" "benign" "" "0000306694" "0" "30" "1" "220324715" "220324715" "subst" "0.000762839" "01943" "RAB3GAP2_000005" "g.220324715T>C" "" "" "" "RAB3GAP2(NM_012414.3):c.4060A>G (p.I1354V, p.(Ile1354Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.220151373T>C" "" "likely benign" "" "0000321295" "0" "50" "1" "220267829" "220267829" "subst" "1.03868E-5" "01804" "IARS2_000004" "g.220267829C>T" "" "" "" "IARS2(NM_018060.3):c.267+4C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.220094487C>T" "" "VUS" "" "0000321296" "0" "30" "1" "220311332" "220311332" "subst" "0.00132394" "01804" "IARS2_000002" "g.220311332G>A" "" "" "" "IARS2(NM_018060.3):c.2122G>A (p.(Glu708Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.220137990G>A" "" "likely benign" "" "0000321297" "0" "30" "1" "220312366" "220312366" "subst" "2.03566E-5" "01804" "IARS2_000003" "g.220312366G>A" "" "" "" "IARS2(NM_018060.3):c.2192G>A (p.(Arg731His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.220139024G>A" "" "likely benign" "" "0000321298" "0" "50" "1" "220324715" "220324715" "subst" "0.000762839" "01804" "RAB3GAP2_000005" "g.220324715T>C" "" "" "" "RAB3GAP2(NM_012414.3):c.4060A>G (p.I1354V, p.(Ile1354Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.220151373T>C" "" "VUS" "" "0000368172" "3" "70" "1" "220316450" "220316450" "subst" "0" "02404" "IARS2_000006" "g.220316450C>T" "" "{PMID:Vona 2018:30419932}" "" "" "" "Germline" "yes" "" "0" "" "" "g.220143108C>T" "" "likely pathogenic (recessive)" "" "0000368177" "3" "90" "1" "220316451" "220316451" "subst" "0" "00006" "IARS2_000001" "g.220316451C>T" "" "{PMID:Schwartzentruber 2014:25130867}, {OMIM612801:0001}" "" "" "homozygosity mapping, not in 540 control exomes" "Germline" "yes" "rs587783070" "0" "" "" "g.220143109C>T" "" "pathogenic (recessive)" "" "0000368178" "11" "90" "1" "220300169" "220300169" "subst" "4.12633E-6" "00006" "IARS2_000005" "g.220300169G>A" "" "{PMID:Schwartzentruber 2014:25130867}, {OMIM612801:0002}" "" "" "" "Germline" "" "" "0" "" "" "g.220126827G>A" "" "likely pathogenic (recessive)" "" "0000368179" "21" "50" "1" "220311332" "220311332" "subst" "0.00132394" "00006" "IARS2_000002" "g.220311332G>A" "" "{PMID:Schwartzentruber 2014:25130867}, {OMIM612801:0003}" "" "" "" "Germline" "" "rs143722284" "0" "" "" "g.220137990G>A" "" "VUS" "" "0000406027" "0" "70" "1" "220312456" "220312456" "subst" "0" "02404" "IARS2_000007" "g.220312456A>G" "" "{PMID:Vona 2018:30419932}" "" "" "" "Germline" "yes" "" "0" "" "" "g.220139114A>G" "" "likely pathogenic (recessive)" "" "0000505477" "0" "30" "1" "220325008" "220325008" "subst" "0.000576936" "01943" "RAB3GAP2_000047" "g.220325008T>C" "" "" "" "RAB3GAP2(NM_012414.3):c.3966A>G (p.K1322=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.220151666T>C" "" "likely benign" "" "0000605193" "0" "50" "1" "220324706" "220324706" "subst" "4.10139E-6" "02325" "RAB3GAP2_000064" "g.220324706T>C" "" "" "" "RAB3GAP2(NM_012414.4):c.4069A>G (p.T1357A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.220151364T>C" "" "VUS" "" "0000660516" "3" "70" "1" "220312456" "220312456" "subst" "0" "00006" "IARS2_000007" "g.220312456A>G" "" "{PMID:Vona 2018:30419932}" "" "" "" "Germline" "yes" "" "0" "" "" "g.220139114A>G" "" "likely pathogenic (recessive)" "" "0000660517" "3" "90" "1" "220316451" "220316451" "subst" "0" "00006" "IARS2_000001" "g.220316451C>T" "" "{PMID:Schwartzentruber 2014:25130867}" "" "" "" "Germline" "yes" "" "0" "" "" "g.220143109C>T" "" "pathogenic (recessive)" "" "0000660518" "3" "90" "1" "220316451" "220316451" "subst" "0" "00006" "IARS2_000001" "g.220316451C>T" "" "{PMID:Schwartzentruber 2014:25130867}" "" "" "" "Germline" "yes" "" "0" "" "" "g.220143109C>T" "" "pathogenic (recessive)" "" "0000660519" "3" "70" "1" "220316345" "220316345" "subst" "2.03151E-5" "00006" "IARS2_000015" "g.220316345G>A" "" "{PMID:Moosa 2017:28328135}" "" "" "" "Germline" "" "" "0" "" "" "g.220143003G>A" "" "likely pathogenic (recessive)" "" "0000660520" "11" "70" "1" "220275600" "220275600" "subst" "0" "00006" "IARS2_000016" "g.220275600T>C" "" "{PMID:Takezawa 2018:30041933}" "" "Phe227Ser" "" "Germline" "yes" "" "0" "" "" "g.220102258T>C" "" "likely pathogenic (recessive)" "" "0000660521" "21" "70" "1" "220315180" "220315180" "subst" "1.2187E-5" "00006" "IARS2_000017" "g.220315180G>A" "" "{PMID:Takezawa 2018:30041933}" "" "" "" "Germline" "yes" "" "0" "" "" "g.220141838G>A" "" "likely pathogenic (recessive)" "" "0000660522" "11" "70" "1" "220275600" "220275600" "subst" "0" "00006" "IARS2_000016" "g.220275600T>C" "" "{PMID:Takezawa 2018:30041933}" "" "" "" "Germline" "yes" "" "0" "" "" "g.220102258T>C" "" "likely pathogenic (recessive)" "" "0000660523" "21" "70" "1" "220315180" "220315180" "subst" "1.2187E-5" "00006" "IARS2_000017" "g.220315180G>A" "" "{PMID:Takezawa 2018:30041933}" "" "" "" "Germline" "yes" "" "0" "" "" "g.220141838G>A" "" "likely pathogenic (recessive)" "" "0000675663" "0" "30" "1" "220325047" "220325047" "subst" "0" "01943" "RAB3GAP2_000067" "g.220325047C>A" "" "" "" "RAB3GAP2(NM_012414.3):c.3927G>T (p.G1309=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729984" "3" "90" "1" "220316345" "220316345" "subst" "2.03151E-5" "00000" "IARS2_000015" "g.220316345G>A" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_018060.3:c.2620G>A:p.(Gly874Arg)" "" "Germline" "" "" "0" "" "" "g.220143003G>A" "" "pathogenic (recessive)" "" "0000799106" "0" "70" "1" "220315179" "220315179" "subst" "8.12592E-6" "02327" "IARS2_000018" "g.220315179C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000799107" "0" "90" "1" "220315180" "220315180" "subst" "1.2187E-5" "02327" "IARS2_000017" "g.220315180G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000821616" "0" "70" "1" "216240159" "222780953" "del" "0" "00000" "USH2A_000000" "g.216240159_222780953del" "" "{PMID:Turro 2020:32581362}" "" "chr1:g.216240159_222780953del" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "likely pathogenic" "" "0000857287" "0" "30" "1" "220325020" "220325020" "subst" "4.06286E-6" "01943" "RAB3GAP2_000090" "g.220325020G>T" "" "" "" "RAB3GAP2(NM_012414.3):c.3954C>A (p.H1318Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947152" "0" "50" "1" "220276854" "220276854" "subst" "0.000389857" "01804" "IARS2_000019" "g.220276854C>T" "" "" "" "IARS2(NM_018060.3):c.1016C>T (p.(Ser339Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000954105" "11" "70" "1" "220275527" "220275527" "subst" "0" "00006" "IARS2_000020" "g.220275527G>C" "" "{PMID:Li 2018:29914532}" "" "" "" "Germline" "" "" "0" "" "" "g.220102185G>C" "" "likely pathogenic (dominant)" "" "0000954106" "21" "90" "1" "220315176" "220315176" "subst" "1.21894E-5" "00006" "IARS2_000021" "g.220315176C>T" "" "{PMID:Li 2018:29914532}" "" "" "" "Germline" "" "" "0" "" "" "g.220141834C>T" "" "pathogenic (recessive)" "" "0000954115" "21" "70" "1" "220316300" "220316300" "subst" "0.000146811" "00006" "IARS2_000022" "g.220316300T>C" "" "{PMID:Li 2018:29914532}" "" "" "" "Germline" "" "" "0" "" "" "g.220142958T>C" "" "likely pathogenic (dominant)" "" "0000954116" "11" "70" "1" "220316300" "220316300" "subst" "0.000146811" "00006" "IARS2_000022" "g.220316300T>C" "" "{PMID:Li 2018:29914532}" "" "" "" "Germline" "" "" "0" "" "" "g.220142958T>C" "" "likely pathogenic (dominant)" "" "0000960828" "0" "30" "1" "220267581" "220267581" "subst" "0.0280996" "01804" "BPNT1_000001" "g.220267581G>T" "" "" "" "IARS2(NM_018060.3):c.23G>T (p.(Arg8Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973639" "0" "50" "1" "220273779" "220273840" "del" "0" "01804" "IARS2_000023" "g.220273779_220273840del" "" "" "" "IARS2(NM_018060.4):c.391-53_399del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973640" "0" "50" "1" "220275468" "220275468" "dup" "0" "01804" "IARS2_000024" "g.220275468dup" "" "" "" "IARS2(NM_018060.4):c.551-3dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973642" "0" "30" "1" "220298570" "220298570" "dup" "0" "01804" "IARS2_000025" "g.220298570dup" "" "" "" "IARS2(NM_018060.4):c.1641-9dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973643" "0" "50" "1" "220300177" "220300177" "subst" "0" "01804" "IARS2_000026" "g.220300177T>G" "" "" "" "IARS2(NM_018060.4):c.1829T>G (p.(Val610Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973644" "0" "50" "1" "220313538" "220313538" "subst" "0" "01804" "IARS2_000027" "g.220313538A>G" "" "" "" "IARS2(NM_018060.4):c.2321A>G (p.(Tyr774Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973645" "0" "50" "1" "220315180" "220315180" "subst" "3.6561E-5" "01804" "IARS2_000028" "g.220315180G>T" "" "" "" "IARS2(NM_018060.4):c.2450G>T (p.(Arg817Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031669" "0" "30" "1" "220269438" "220269438" "dup" "0" "01804" "IARS2_000029" "g.220269438dup" "" "" "" "IARS2(NM_018060.4):c.268-8dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031670" "0" "50" "1" "220275535" "220275535" "subst" "0" "01804" "IARS2_000030" "g.220275535G>T" "" "" "" "IARS2(NM_018060.4):c.615G>T (p.(Met205Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031671" "0" "50" "1" "220279352" "220279352" "subst" "0" "01804" "IARS2_000031" "g.220279352G>C" "" "" "" "IARS2(NM_018060.4):c.1186G>C (p.(Ala396Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031672" "0" "50" "1" "220284182" "220284182" "subst" "0" "01804" "IARS2_000032" "g.220284182A>G" "" "" "" "IARS2(NM_018060.4):c.1382A>G (p.(His461Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031673" "0" "50" "1" "220313631" "220313631" "subst" "0" "01804" "IARS2_000033" "g.220313631G>T" "" "" "" "IARS2(NM_018060.4):c.2414G>T (p.(Arg805Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050428" "0" "50" "1" "220275475" "220275475" "subst" "7.90861E-5" "01804" "IARS2_000034" "g.220275475A>T" "" "" "" "IARS2(NM_018060.4):c.555A>T (p.(Arg185Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050429" "0" "50" "1" "220275522" "220275522" "subst" "8.17094E-6" "01804" "IARS2_000035" "g.220275522G>A" "" "" "" "IARS2(NM_018060.4):c.602G>A (p.(Arg201His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050430" "0" "30" "1" "220275628" "220275628" "subst" "0" "01804" "IARS2_000036" "g.220275628G>A" "" "" "" "IARS2(NM_018060.4):c.699+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001050431" "0" "50" "1" "220275842" "220275842" "subst" "8.13524E-6" "01804" "IARS2_000037" "g.220275842C>T" "" "" "" "IARS2(NM_018060.4):c.755C>T (p.(Ala252Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 IARS2 ## 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}}" "0000306692" "00009760" "30" "7176" "0" "7176" "0" "c.*4137T>C" "r.(=)" "p.(=)" "" "0000306693" "00009760" "10" "7112" "0" "7112" "0" "c.*4073C>G" "r.(=)" "p.(=)" "" "0000306694" "00009760" "30" "6777" "0" "6777" "0" "c.*3738T>C" "r.(=)" "p.(=)" "" "0000321295" "00009760" "50" "267" "4" "267" "4" "c.267+4C>T" "r.spl?" "p.?" "" "0000321296" "00009760" "30" "2122" "0" "2122" "0" "c.2122G>A" "r.(?)" "p.(Glu708Lys)" "" "0000321297" "00009760" "30" "2192" "0" "2192" "0" "c.2192G>A" "r.(?)" "p.(Arg731His)" "" "0000321298" "00009760" "50" "6777" "0" "6777" "0" "c.*3738T>C" "r.(=)" "p.(=)" "" "0000368172" "00009760" "70" "2725" "0" "2725" "0" "c.2725C>T" "r.(?)" "p.(Pro909Ser)" "21" "0000368177" "00009760" "90" "2726" "0" "2726" "0" "c.2726C>T" "r.(?)" "p.(Pro909Leu)" "21" "0000368178" "00009760" "90" "1821" "0" "1821" "0" "c.1821G>A" "r.(?)" "p.(Trp607*)" "14" "0000368179" "00009760" "50" "2122" "0" "2122" "0" "c.2122G>A" "r.(?)" "p.(Glu708Lys)" "17" "0000406027" "00009760" "70" "2282" "0" "2282" "0" "c.2282A>G" "r.(?)" "p.(His761Arg)" "18" "0000505477" "00009760" "30" "7070" "0" "7070" "0" "c.*4031T>C" "r.(=)" "p.(=)" "" "0000605193" "00009760" "50" "6768" "0" "6768" "0" "c.*3729T>C" "r.(=)" "p.(=)" "" "0000660516" "00009760" "70" "2282" "0" "2282" "0" "c.2282A>G" "r.(?)" "p.(His761Arg)" "" "0000660517" "00009760" "90" "2726" "0" "2726" "0" "c.2726C>T" "r.(?)" "p.(Pro909Leu)" "" "0000660518" "00009760" "90" "2726" "0" "2726" "0" "c.2726C>T" "r.(?)" "p.(Pro909Leu)" "" "0000660519" "00009760" "70" "2620" "0" "2620" "0" "c.2620G>A" "r.(?)" "p.(Gly874Arg)" "" "0000660520" "00009760" "70" "680" "0" "680" "0" "c.680T>C" "r.(?)" "p.(Phe227Ser)" "" "0000660521" "00009760" "70" "2450" "0" "2450" "0" "c.2450G>A" "r.(?)" "p.(Arg817His)" "" "0000660522" "00009760" "70" "680" "0" "680" "0" "c.680T>C" "r.(?)" "p.(Phe227Ser)" "" "0000660523" "00009760" "70" "2450" "0" "2450" "0" "c.2450G>A" "r.(?)" "p.(Arg817His)" "" "0000675663" "00009760" "30" "7109" "0" "7109" "0" "c.*4070C>A" "r.(=)" "p.(=)" "" "0000729984" "00009760" "90" "2620" "0" "2620" "0" "c.2620G>A" "r.(?)" "p.(Gly874Arg)" "" "0000799106" "00009760" "70" "2449" "0" "2449" "0" "c.2449C>T" "r.(?)" "p.(Arg817Cys)" "" "0000799107" "00009760" "90" "2450" "0" "2450" "0" "c.2450G>A" "r.(?)" "p.(Arg817His)" "" "0000821616" "00009760" "70" "-104" "-4027296" "3445" "2459570" "c.-4027400_*2459976del" "r.0?" "p.0?" "" "0000857287" "00009760" "30" "7082" "0" "7082" "0" "c.*4043G>T" "r.(=)" "p.(=)" "" "0000947152" "00009760" "50" "1016" "0" "1016" "0" "c.1016C>T" "r.(?)" "p.(Ser339Phe)" "" "0000954105" "00009760" "70" "607" "0" "607" "0" "c.607G>C" "r.(?)" "p.(Gly203Arg)" "" "0000954106" "00009760" "90" "2446" "0" "2446" "0" "c.2446C>T" "r.(?)" "p.(Arg816Ter)" "" "0000954115" "00009760" "70" "2575" "0" "2575" "0" "c.2575T>C" "r.(?)" "p.(Phe859Leu)" "" "0000954116" "00009760" "70" "2575" "0" "2575" "0" "c.2575T>C" "r.(?)" "p.(Phe859Leu)" "" "0000960828" "00009760" "30" "23" "0" "23" "0" "c.23G>T" "r.(?)" "p.(Arg8Leu)" "" "0000973639" "00009760" "50" "391" "-53" "399" "0" "c.391-53_399del" "r.spl?" "p.?" "" "0000973640" "00009760" "50" "551" "-3" "551" "-3" "c.551-3dup" "r.spl?" "p.?" "" "0000973642" "00009760" "30" "1641" "-9" "1641" "-9" "c.1641-9dup" "r.(=)" "p.(=)" "" "0000973643" "00009760" "50" "1829" "0" "1829" "0" "c.1829T>G" "r.(?)" "p.(Val610Gly)" "" "0000973644" "00009760" "50" "2321" "0" "2321" "0" "c.2321A>G" "r.(?)" "p.(Tyr774Cys)" "" "0000973645" "00009760" "50" "2450" "0" "2450" "0" "c.2450G>T" "r.(?)" "p.(Arg817Leu)" "" "0001031669" "00009760" "30" "268" "-8" "268" "-8" "c.268-8dup" "r.(=)" "p.(=)" "" "0001031670" "00009760" "50" "615" "0" "615" "0" "c.615G>T" "r.(?)" "p.(Met205Ile)" "" "0001031671" "00009760" "50" "1186" "0" "1186" "0" "c.1186G>C" "r.(?)" "p.(Ala396Pro)" "" "0001031672" "00009760" "50" "1382" "0" "1382" "0" "c.1382A>G" "r.(?)" "p.(His461Arg)" "" "0001031673" "00009760" "50" "2414" "0" "2414" "0" "c.2414G>T" "r.(?)" "p.(Arg805Met)" "" "0001050428" "00009760" "50" "555" "0" "555" "0" "c.555A>T" "r.(?)" "p.(Arg185Ser)" "" "0001050429" "00009760" "50" "602" "0" "602" "0" "c.602G>A" "r.(?)" "p.(Arg201His)" "" "0001050430" "00009760" "30" "699" "9" "699" "9" "c.699+9G>A" "r.(=)" "p.(=)" "" "0001050431" "00009760" "50" "755" "0" "755" "0" "c.755C>T" "r.(?)" "p.(Ala252Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{variantid}}" "0000164617" "0000368172" "0000164619" "0000368177" "0000164620" "0000368178" "0000164620" "0000368179" "0000182159" "0000406027" "0000297837" "0000660516" "0000297838" "0000660517" "0000297839" "0000660518" "0000297840" "0000660519" "0000297841" "0000660520" "0000297841" "0000660521" "0000297842" "0000660522" "0000297842" "0000660523" "0000332702" "0000729984" "0000391668" "0000821616" "0000445908" "0000954105" "0000445908" "0000954115" "0000445909" "0000954106" "0000445909" "0000954116"