### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GARS) # 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}}" "GARS" "glycyl-tRNA synthetase" "7" "p15" "unknown" "LRG_243" "UD_132085410417" "" "https://www.LOVD.nl/GARS" "" "1" "4162" "2617" "600287" "1" "1" "1" "1" "This database is one of the gene variant databases from the:.\r\nVariants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB. All variants submitted here will be shared with the IPNMDB." "" "g" "https://databases.lovd.nl/shared/refseq/GARS_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00001" "2012-05-23 00:00:00" "00006" "2018-11-11 19:58:03" "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}}" "00008352" "GARS" "glycyl-tRNA synthetase" "001" "NM_002047.2" "" "NP_002038.2" "" "" "" "-357" "2393" "2220" "30634181" "30673649" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00195" "HMN5A" "neuropathy, motor, distal, hereditary, type Va (HMN-5A)" "AD" "600794" "" "" "" "00006" "2013-09-10 21:00:12" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00199" "CMT2" "Charcot-Marie-Tooth disease, type 2 (CMT-2)" "" "" "" "" "" "00006" "2013-09-13 14:35:15" "00006" "2021-12-11 13:56:28" "02364" "CMT2D" "Charcot-Marie-Tooth disease, type 2D (CMT-2D)" "AD" "601472" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05111" "HMN" "neuropathy, motor, distal, hereditary (HMN)" "" "" "" "" "" "00006" "2016-01-11 01:33:03" "00006" "2016-03-20 12:15:43" "05113" "CMT" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "00006" "2016-01-11 01:40:57" "" "" "05384" "neuropathy" "neuropathy" "" "" "" "" "" "00006" "2018-01-27 20:34:06" "" "" "05618" "NMD" "neuromuscular disorder (NMD)" "" "" "" "" "" "00006" "2019-07-02 19:46:12" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "GARS" "00195" "GARS" "02364" ## Individuals ## Do not remove or alter this header ## ## Count = 77 "{{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}}" "00035904" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035905" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035906" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035907" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035908" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035909" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035910" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035911" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035912" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035913" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035914" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035915" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035916" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035917" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035918" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035919" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035920" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035921" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035922" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035923" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00050382" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00205492" "" "" "" "1" "" "00006" "{PMID:Abe 2009:19329989}, {OMIM600287:0006}" "" "" "" "Japan" "" "0" "" "" "" "" "00205493" "" "" "" "3" "" "00006" "{PMID:Sivakumar 2005:16014653}" "" "" "" "Bulgaria" "" "0" "" "" "" "" "00205494" "" "" "" "21" "" "00006" "{PMID:Sivakumar 2005:16014653}" "" "" "" "Bulgaria" "" "0" "" "" "" "" "00205495" "" "" "" "3" "" "00006" "{PMID:Antonellis 2003:12690580}, {OMIM600287:0001}" "" "" "" "United States" "" "0" "" "" "" "" "00205496" "" "" "" "14" "" "00006" "{PMID:Sivakumar 2005:16014653}" "" "" "" "United States" "" "0" "" "" "" "" "00205497" "" "" "" "5" "" "00006" "{PMID:James 2006:17101916}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00205498" "" "" "" "8" "" "00006" "{PMID:Sivakumar 2005:16014653}" "multi-generation family, 8 affecteds, 13 unaffected carriers" "" "" "Australia;United Kingdom (Great Britain)" "" "0" "" "" "" "Fam" "00205499" "" "" "" "6" "" "00006" "{PMID:Del Bo 2006:16534118}" "" "" "" "Italy" "" "0" "" "" "" "" "00205500" "" "" "" "6" "" "00006" "{PMID:Sivakumar 2005:16014653}" "" "" "" "France" "" "0" "" "" "Jewish-Sephardic" "" "00205501" "" "" "" "3" "" "00006" "{PMID:James 2006:17101916}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00205502" "" "" "" "1" "" "00006" "{PMID:James 2006:17101916}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00205503" "" "" "" "1" "" "00006" "{PMID:Rohkamm 2007:17663003}" "" "" "" "Ghana" "" "0" "" "" "" "" "00205504" "" "" "" "11" "" "00006" "{PMID:Sivakumar 2005:16014653}" "" "" "" "Mongolia" "" "0" "" "" "" "" "00205505" "" "" "" "6" "" "00006" "{PMID:Sivakumar 2005:16014653}" "" "" "" "Mongolia" "" "0" "" "" "" "" "00205506" "" "" "" "1" "" "00006" "{PMID:Abe 2009:19329989}" "" "" "" "Japan" "" "0" "" "" "" "" "00205507" "" "" "" "1" "" "00006" "{PMID:Abe 2009:19329989}" "" "" "" "Japan" "" "0" "" "" "" "" "00205508" "" "" "" "1" "" "00006" "{PMID:Abe 2009:19329989}" "" "" "" "Japan" "" "0" "" "" "" "" "00205509" "" "" "" "1" "" "00006" "{PMID:Abe 2009:19329989}" "" "" "" "Japan" "" "0" "" "" "" "" "00205510" "" "" "" "1" "" "00006" "{PMID:Abe 2009:19329989}" "" "" "" "Japan" "" "0" "" "" "" "" "00205511" "" "" "" "1" "" "00006" "{PMID:Abe 2009:19329989}" "" "" "" "Japan" "" "0" "" "" "" "" "00205512" "" "" "" "1" "" "00006" "{PMID:Abe 2009:19329989}" "" "" "" "Japan" "" "0" "" "" "" "" "00205513" "" "" "" "1" "" "00006" "{PMID:Abe 2009:19329989}" "" "" "" "Japan" "" "0" "" "" "" "" "00205514" "" "" "" "1" "" "00006" "{PMID:Abe 2009:19329989}" "" "" "" "Japan" "" "0" "" "" "" "" "00205515" "" "" "" "1" "" "00006" "{PMID:Abe 2009:19329989}" "" "" "" "Japan" "" "0" "" "" "" "" "00263912" "" "" "" "1" "" "01364" "" "" "" "" "Spain" "" "0" "" "" "" "?" "00289289" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00294425" "" "" "" "79" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294426" "" "" "" "15" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294427" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294428" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294429" "" "" "" "77" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296522" "" "" "" "1" "" "00006" "{PMID:Forrester 2020:31985473}" "" "" "" "" "" "0" "" "" "" "Pat2" "00296523" "" "" "" "2" "" "00006" "{PMID:Forrester 2020:31985473}" "2-generation family, patient with affected heterozygous carrier daugther" "" "" "" "" "0" "" "" "" "Pat1" "00296524" "" "" "" "1" "" "00006" "{PMID:Forrester 2020:31985473}" "patient and affected heterozygous carrier grand daughter" "" "" "" "" "0" "" "" "" "Pat7" "00296525" "" "" "" "1" "" "00006" "{PMID:Forrester 2020:31985473}" "" "" "" "" "" "0" "" "" "" "Pat8" "00296530" "" "" "" "1" "" "00006" "{PMID:Farwell 2015:25356970}" "" "" "" "" "" "0" "" "" "" "GARS" "00296547" "" "" "" "3" "" "00006" "{PMID:Boczonadi 2018:29648643}, {PMID:Forrester 2020:31985473}" "3-generation family, affected grandmother, mother and son" "M" "" "" "" "0" "" "" "" "FamPatIII1/Pat3" "00296553" "" "" "00296547" "1" "" "00006" "{PMID:Boczonadi 2018:29648643}" "mother" "F" "" "" "" "0" "" "" "" "Fam1PatII1" "00296554" "" "" "" "3" "" "00006" "{PMID:McMillan 2014:24669931}, {PMID:Boczonadi 2018:29648643}" "2-generation family, affected female and heterozygous carrier parents" "F" "" "Canada" "" "0" "" "" "" "Fam/Fam2PatII1" "00296555" "" "" "00296554" "1" "" "00006" "{PMID:McMillan 2014:24669931}, {PMID:Boczonadi 2018:29648643}" "father" "M" "" "Canada" "" "0" "" "" "" "Fam/Fam2father" "00296556" "" "" "00296554" "1" "" "00006" "{PMID:McMillan 2014:24669931}, {PMID:Boczonadi 2018:29648643}" "mother" "F" "" "Canada" "" "0" "" "" "" "Fam2mother" "00296557" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}. {PMID:Forrester 2020:31985473}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "GARS817G>A/Pat4" "00296558" "" "" "" "10" "" "00006" "{PMID:Forrester 2020:31985473}" "5-generation family, 10 affected (2F, 8M)" "M" "" "" "" "0" "" "" "" "Pat5" "00296559" "" "" "" "1" "" "00006" "{PMID:Forrester 2020:31985473}" "variant segregates in extensive family" "" "" "" "" "0" "" "" "" "Pat6" "00296598" "" "" "" "2" "" "00006" "{PMID:Kemp 2011:21169334}, {PMID:Taylor 2014:25058219}" "2 affected sibs" "F" "yes" "Turkey" "1m" "0" "" "" "" "Pat31" "00299991" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00300049" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00300051" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00300052" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00300151" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat4" "00374667" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3679" "00399031" "" "" "" "1" "" "00006" "{PMID:Gonzalez-Quereda 2020:32403337}" "patient" "M" "" "Spain" "" "0" "" "" "" "P79" "00399082" "" "" "" "1" "" "00006" "{PMID:Gonzalez-Quereda 2020:32403337}" "patient" "M" "" "Spain" "" "0" "" "" "" "P163" "00399539" "" "" "" "1" "" "04212" "{PMID:Yalcouye 2019:31173493}" "5-generation family, affected brother/sister, unaffected heterozygous carrier mother" "M" "yes" "Mali" ">35y" "0" "" "" "Barbara" "FamPatIV4" "00399540" "" "" "" "1" "" "04212" "{PMID:Yalcouye 2019:31173493}" "sister" "F" "yes" "Mali" ">19y" "0" "" "" "Barbara" "FamPatIV6" "00428312" "" "" "" "2" "" "04147" "{PMID:Yalcouye 2022:31173493}" "5-generation family, affected brother/sister (F, M), unaffected carrier mother" "M" "yes" "Mali" ">12y" "0" "" "" "Africa" "FamPatIV4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 61 "{{individualid}}" "{{diseaseid}}" "00035919" "00198" "00035920" "00198" "00035921" "00198" "00035922" "00198" "00050382" "00198" "00205492" "05113" "00205493" "00000" "00205494" "05111" "00205495" "05113" "00205496" "05113" "00205497" "05111" "00205498" "05111" "00205499" "00198" "00205500" "05111" "00205501" "05113" "00205502" "05111" "00205503" "05111" "00205504" "05111" "00205505" "05113" "00205506" "00000" "00205507" "00000" "00205508" "00000" "00205509" "00000" "00205510" "00000" "00205511" "00000" "00205512" "00000" "00205513" "00000" "00205514" "00000" "00205515" "00000" "00263912" "00199" "00289289" "00198" "00294425" "00198" "00294426" "00198" "00294427" "00198" "00294428" "00198" "00294429" "00198" "00296522" "05384" "00296523" "05384" "00296524" "05384" "00296525" "05384" "00296530" "00198" "00296547" "05384" "00296553" "05384" "00296554" "05384" "00296555" "05384" "00296556" "00000" "00296557" "05384" "00296558" "05384" "00296559" "05384" "00296598" "00198" "00299991" "00199" "00300049" "00199" "00300051" "05111" "00300052" "05111" "00300151" "05111" "00374667" "00198" "00399031" "05618" "00399082" "05618" "00399539" "05113" "00399540" "05113" "00428312" "02364" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00195, 00198, 00199, 02364, 05111, 05113, 05384, 05618 ## Count = 44 "{{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}}" "0000036994" "00198" "00050382" "00006" "Isolated (sporadic)" "" "intrauterine growth retardation, proportionate short stature, clinodactyly of the 5th finger, webbed neck, epicanthus, intellectual disability mild" "" "" "" "" "" "" "" "" "" "" "" "0000153663" "05113" "00205492" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CMT-2D" "Charcot-Marie-Tooth disease, type 2 (CMT-2)" "" "0000153664" "00000" "00205493" "00006" "Familial, autosomal dominant" "" "multi-generation family, 3-generation branch with 3 unaffected carriers (grandfather, daugther, granddaugther)" "" "" "" "" "" "" "" "" "" "" "" "0000153665" "05111" "00205494" "00006" "Familial, autosomal dominant" "" "multi-generation family, 21 affecteds, 5 tested, branch with unaffected carriers" "" "" "" "" "" "" "" "" "HMN-5A" "spinal muscular atrophy" "" "0000153666" "05113" "00205495" "00006" "Familial, autosomal dominant" "" "3-generation family, 3 affecteds" "" "" "" "" "" "" "" "" "CMT-2D" "Charcot-Marie-Tooth disease, type 2D (CMT-2D)" "" "0000153667" "05113" "00205496" "00006" "Familial, autosomal dominant" "" "multi-generation family, 14 affecteds, 8 tested" "" "" "" "" "" "" "" "" "CMT-2D" "Charcot-Marie-Tooth disease, type 2D (CMT-2D)" "" "0000153668" "05111" "00205497" "00006" "Familial, autosomal dominant" "" "4-generation family, affected mother, father, grandfather, 2 siblings" "" "" "" "" "" "" "" "" "HMN-5A" "distal hereditary motor neuropathy" "" "0000153669" "05111" "00205498" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "HMN-5A" "spinal muscular atrophy" "" "0000153670" "00198" "00205499" "00006" "Familial, autosomal dominant" "" "3-generation family, 5 affecteds, 1 unaffected carrier (young)" "" "" "" "" "" "" "" "" "HMN-5A, CMT-2D" "spinal muscular atrophy" "" "0000153671" "05111" "00205500" "00006" "Familial, autosomal dominant" "" "4-generation family, 6 affecteds" "" "" "" "" "" "" "" "" "HMN-5A" "spinal muscular atrophy" "" "0000153672" "05113" "00205501" "00006" "Familial, autosomal dominant" "" "4-generation family, several affecteds" "" "" "" "" "" "" "" "" "CMT-2D" "Charcot-Marie-Tooth disease, type 2 (CMT-2)" "" "0000153673" "05111" "00205502" "00006" "Isolated (sporadic)" "" "2-generation family, non-carrier parents" "" "" "" "" "" "" "" "" "HMN-5A" "spinal muscular atrophy, infantile" "" "0000153674" "05111" "00205503" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "HMN-5A" "distal hereditary motor neuropathy" "" "0000153675" "05111" "00205504" "00006" "Familial, autosomal dominant" "" "multi-generation family, 17 affecteds, 17 tested" "" "" "" "" "" "" "" "" "HMN-5A" "spinal muscular atrophy" "" "0000153676" "05113" "00205505" "00006" "Familial, autosomal dominant" "" "multi-generation family, 17 affecteds, 17 tested" "" "" "" "" "" "" "" "" "CMT-2D" "Charcot-Marie-Tooth disease, type 2D (CMT-2D)" "" "0000156301" "00198" "00035919" "01164" "Unknown" "" "distal und rechtsbetonte Paresen, atrophy of upper limbs, family history negative" "" "" "" "" "" "" "" "" "" "atrophy" "" "0000156302" "00198" "00035920" "01164" "Unknown" "" "generalised epilepsy with febrile seizure plus, komplexe Partialanfälle, mental retardation, learning disorder" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000156303" "00198" "00035921" "01164" "Unknown" "" "CMT2D" "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease (CMT)" "" "0000156304" "00198" "00035922" "01164" "Unknown" "" "Isolierte rein motorische Peroneuslähmung bds., Suralis-NLG normal MGZ 67710" "" "" "" "" "" "" "" "" "" "neuropathy" "" "0000222920" "00198" "00289289" "01164" "Unknown" "" "Demyelinating peripheral neuropathy (HP:0007108); Gait disturbance (HP:0001288)" "" "" "" "" "" "" "" "" "" "" "" "0000223929" "05384" "00296523" "00006" "Familial, autosomal dominant" "59y" "distal weakness/wasting upper and lower limbs" "" "" "" "" "" "" "" "" "CMT2D;HMN5A" "neuropathy" "" "0000223930" "05384" "00296524" "00006" "Familial, autosomal dominant" "49y" "eeakness in fingers, brisk deep tendon reflexes in upper limbs/knee; wasting in feet, asymmetric foot deformity, tiptoeing in\r\nchildhood" "" "" "" "" "" "" "" "" "CMT2D;HMN5A" "neuropathy" "" "0000223932" "05384" "00296525" "00006" "Familial, autosomal dominant" "52y" "numbness in both hands; foot drop, wasting of tibialis anterior, weakness foot dorsiflexion; nerve conduction study prolonged distal motor latency, prolonged F waves, small motor responses common peroneal and posterior tibial nerves, mildly reduced conduction velocities common peroneal nerve, low normal or slightly small sensory nerve action potential" "" "" "" "" "" "" "" "" "CMT2D;HMN5A" "neuropathy" "" "0000223936" "00198" "00296530" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT2D;HMN5A" "" "" "0000223942" "05384" "00296522" "00006" "Unknown" "01y" "severe muscle weakness, slightly more marked in lower limbs and distally; ventilator-dependent; needle EMG widespread and severe neurogenic changes; nerve conduction study severe reduction compound muscle action potential, slowing motor conduction velocity, normal sensory nerve action potential" "" "" "" "" "" "" "" "" "CMT2D;HMN5A" "neuropathy" "" "0000223955" "05384" "00296547" "00006" "Familial, autosomal dominant" "34y" "typical clinical and electrophysiological signs of dHMN-V, upper limb predominant distal neuropathy since early twenties; upper limbs dorsal interosseous muscle atrophy, weak thumb/index finger; lower limbs ankle dorsi and plantar flexion weakness" "" "" "" "" "" "" "" "" "CMT2D;HMN5A" "neuropathy" "" "0000223960" "05384" "00296553" "00006" "Familial, autosomal dominant" "" "typical clinical and electrophysiological signs of dHMN-V, upper limb predominant distal neuropathy since early twenties" "" "" "" "" "" "" "" "" "CMT2D;HMN5A" "neuropathy" "" "0000223961" "05384" "00296554" "00006" "Familial, autosomal dominant" "12y" "see paper; ..., 6y-developed non-compaction cardiomyopathy, exercise induced myalgia; white matter changes, increased lactate" "" "" "" "" "" "" "" "" "CMT2D;HMN5A" "neuropathy" "" "0000223962" "05384" "00296555" "00006" "Familial, autosomal dominant" "" "bilateral talipes, mild axonal neuropathy" "" "" "" "" "" "" "" "" "" "neuropathy" "" "0000223963" "05384" "00296557" "00006" "Isolated (sporadic)" "16y" "no upper limb weakness; lower limb pes cavus, tight Achilles tendon; chronic denervation in legs" "" "" "" "" "" "" "" "" "CMT2D;HMN5A" "neuropathy" "" "0000223964" "05384" "00296558" "00006" "Familial, autosomal dominant" "11y" "upper limb weakness in muscles around thumb, lower limbs pes cavus, hammer toes, ankle jerks depressed" "" "" "" "" "" "" "" "" "CMT2D;HMN5A" "neuropathy" "" "0000223965" "05384" "00296559" "00006" "Familial, autosomal dominant" "58y" "upper limb weakness/wasting in small muscles of hands; lower limb pain and weakness in feet; nerve conduction study upper limb normal compound muscle action potential,mild/moderate slowing motor conduction velocity, normal sensory nerve action potential; nerve conduction study upper limb potentials absent motor conduction velocity, lower limit of normal sensory nerve action potential; needle EMG length-dependent denervation changes" "" "" "" "" "" "" "" "" "CMT2D;HMN5A" "neuropathy" "" "0000224004" "00198" "00296598" "00006" "Familial, autosomal recessive" "1m" "deceased; muscle affected; central nervous system not affected; heart affected; liver not affected;" "1d" "" "" "" "" "" "" "" "" "multiple mitochondrial respiratory chain complex deficiency" "" "0000227312" "00199" "00299991" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "CMT2" "" "0000227370" "00199" "00300049" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "CMT2" "" "0000227372" "05111" "00300051" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "hereditar motor neuropathy" "" "0000227373" "05111" "00300052" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "hereditar motor neuropathy" "" "0000227472" "05111" "00300151" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "hereditar motor neuropathy" "" "0000269877" "00198" "00374667" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "obsessive disease, auditory hallucination" "" "0000292119" "05618" "00399031" "00006" "Unknown" "" "serum CK 173 U/L" "" "" "" "" "" "" "" "" "" "neuromuscular disorder" "" "0000292170" "05618" "00399082" "00006" "Unknown" "" "pes cavus" "" "" "" "" "" "" "" "" "" "neuromuscular disorder" "" "0000292644" "05113" "00399539" "04212" "Familial, autosomal dominant" "" "Distal upper limb muscle weakness (HP:0008959); distal upper limb muscle atrophy (HP:0007149); distal lower limb muscle weakness (HP:0009053); muscle atrophy, lower limb, distal (HP:0008944); distal sensory loss (HP:0002936); claw hands (HP:0001171); decreased reflexes (HP:0001265); steppage gait (HP:0003376)" "12y" "" "Hand muscle weakness (HP:0030237)" "" "" "" "" "" "" "" "" "0000292645" "05113" "00399540" "04212" "Familial, autosomal dominant" "" "Distal upper limb muscle weakness (HP:0008959); distal upper limb muscle atrophy (HP:0007149); distal lower limb muscle weakness (HP:0009053); muscle atrophy, lower limb, distal (HP:0008944); distal sensory loss (HP:0002936); steppage gait (HP:0003376); decreased reflexes (HP:0001265)" ">10y" "" "Difficulty walking (HP:0002355)" "" "" "" "" "" "" "" "" "0000319217" "02364" "00428312" "04147" "Familial, autosomal dominant" ">12y" "" "" "" "" "" "" "" "" "" "Charcot‐Marie‐Tooth disease Type 2D" "Charcot‐Marie‐Tooth disease" "" ## Screenings ## Do not remove or alter this header ## ## Count = 77 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000035974" "00035904" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035975" "00035905" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035976" "00035906" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035977" "00035907" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035978" "00035908" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035979" "00035909" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035980" "00035910" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035981" "00035911" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035982" "00035912" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035983" "00035913" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035984" "00035914" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035985" "00035915" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035986" "00035916" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035987" "00035917" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035988" "00035918" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035989" "00035919" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035990" "00035920" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035991" "00035921" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035992" "00035922" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035993" "00035923" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000050327" "00050382" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000206520" "00205492" "1" "00006" "00006" "2012-11-05 15:40:28" "" "" "DHPLC;SEQ" "DNA" "" "" "0000206521" "00205493" "1" "00006" "00006" "2012-11-05 15:40:28" "" "" "SEQ" "DNA" "" "" "0000206522" "00205494" "1" "00006" "00006" "2012-11-05 15:40:28" "" "" "SEQ" "DNA" "" "" "0000206523" "00205495" "1" "00006" "00006" "2012-11-05 15:40:28" "" "" "SEQ" "DNA" "" "" "0000206524" "00205496" "1" "00006" "00006" "2012-11-05 15:40:28" "" "" "SEQ" "DNA" "" "" "0000206525" "00205497" "1" "00006" "00006" "2012-11-05 15:40:28" "" "" "SEQ" "DNA" "" "" "0000206526" "00205498" "1" "00006" "00006" "2012-11-05 15:40:28" "" "" "SEQ" "DNA" "" "" "0000206527" "00205499" "1" "00006" "00006" "2012-11-05 15:40:28" "" "" "SEQ" "DNA" "" "" "0000206528" "00205500" "1" "00006" "00006" "2012-11-05 15:40:28" "" "" "SEQ" "DNA" "" "" "0000206529" "00205501" "1" "00006" "00006" "2012-11-05 15:40:28" "" "" "SEQ" "DNA" "" "" "0000206530" "00205502" "1" "00006" "00006" "2012-11-05 15:40:28" "" "" "SEQ" "DNA" "" "" "0000206531" "00205503" "1" "00006" "00006" "2012-11-05 15:40:28" "" "" "SEQ" "DNA" "" "" "0000206532" "00205504" "1" "00006" "00006" "2012-11-05 15:40:28" "" "" "SEQ" "DNA" "" "" "0000206533" "00205505" "1" "00006" "00006" "2012-11-05 15:40:28" "" "" "SEQ" "DNA" "" "" "0000206534" "00205506" "1" "00006" "00006" "2012-11-05 15:40:28" "" "" "DHPLC;SEQ" "DNA" "" "" "0000206535" "00205507" "1" "00006" "00006" "2012-11-05 15:40:28" "" "" "DHPLC;SEQ" "DNA" "" "" "0000206536" "00205508" "1" "00006" "00006" "2012-11-05 15:40:28" "" "" "DHPLC;SEQ" "DNA" "" "" "0000206537" "00205509" "1" "00006" "00006" "2012-11-05 15:40:28" "" "" "DHPLC;SEQ" "DNA" "" "" "0000206538" "00205510" "1" "00006" "00006" "2012-11-05 15:40:28" "" "" "DHPLC;SEQ" "DNA" "" "" "0000206539" "00205511" "1" "00006" "00006" "2012-11-05 15:40:28" "" "" "DHPLC;SEQ" "DNA" "" "" "0000206540" "00205512" "1" "00006" "00006" "2012-11-05 15:40:28" "" "" "DHPLC;SEQ" "DNA" "" "" "0000206541" "00205513" "1" "00006" "00006" "2012-11-05 15:40:28" "" "" "DHPLC;SEQ" "DNA" "" "" "0000206542" "00205514" "1" "00006" "00006" "2012-11-05 15:40:28" "" "" "DHPLC;SEQ" "DNA" "" "" "0000206543" "00205515" "1" "00006" "00006" "2012-11-05 15:40:28" "" "" "DHPLC;SEQ" "DNA" "" "" "0000265022" "00263912" "1" "01364" "01364" "2015-09-18 12:05:38" "" "" "SEQ" "DNA" "Blood" "" "0000290459" "00289289" "1" "01164" "01164" "2020-03-02 12:26:42" "" "" "SEQ-NG-S" "DNA" "" "" "0000295593" "00294425" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295594" "00294426" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295595" "00294427" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295596" "00294428" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295597" "00294429" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297632" "00296522" "1" "00006" "00006" "2020-04-08 09:08:25" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000297633" "00296523" "1" "00006" "00006" "2020-04-08 09:25:51" "" "" "SEQ" "DNA" "" "" "0000297634" "00296524" "1" "00006" "00006" "2020-04-08 09:29:14" "" "" "SEQ" "DNA" "" "" "0000297636" "00296525" "1" "00006" "00006" "2020-04-08 09:36:04" "" "" "SEQ" "DNA" "" "" "0000297640" "00296530" "1" "00006" "00006" "2020-04-08 09:40:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000297658" "00296547" "1" "00006" "00006" "2020-04-08 09:57:45" "" "" "SEQ" "DNA" "" "" "0000297663" "00296553" "1" "00006" "00006" "2020-04-08 10:03:27" "" "" "SEQ" "DNA" "" "" "0000297664" "00296554" "1" "00006" "00006" "2020-04-08 10:08:47" "" "" "SEQ" "DNA" "" "" "0000297665" "00296555" "1" "00006" "00006" "2020-04-08 10:13:22" "" "" "SEQ" "DNA" "" "" "0000297666" "00296556" "1" "00006" "00006" "2020-04-08 10:15:05" "" "" "SEQ" "DNA" "" "" "0000297667" "00296557" "1" "00006" "00006" "2020-04-08 10:32:01" "" "" "SEQ" "DNA" "" "WES" "0000297668" "00296558" "1" "00006" "00006" "2020-04-08 10:38:14" "" "" "SEQ" "DNA" "" "" "0000297669" "00296559" "1" "00006" "00006" "2020-04-08 10:45:43" "" "" "SEQ" "DNA" "" "" "0000297708" "00296598" "1" "00006" "00006" "2020-04-08 15:05:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000301107" "00299991" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301165" "00300049" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301167" "00300051" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301168" "00300052" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301267" "00300151" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000375861" "00374667" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000400276" "00399031" "1" "00006" "00006" "2022-01-15 16:40:49" "" "" "SEQ;SEQ-NG" "DNA" "" "166-gene panel" "0000400327" "00399082" "1" "00006" "00006" "2022-01-15 16:40:49" "" "" "SEQ;SEQ-NG" "DNA" "" "166-gene panel" "0000400782" "00399539" "1" "04212" "04212" "2022-01-21 15:27:55" "" "" "SEQ-NG" "DNA" "" "" "0000400783" "00399540" "1" "04212" "04212" "2022-01-21 15:31:54" "" "" "SEQ-NG" "DNA" "" "" "0000429724" "00428312" "1" "04147" "04147" "2022-12-30 22:26:18" "" "" "SEQ" "DNA" "Blood" "Panel of 50 genes and the mtDNA" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 68 "{{screeningid}}" "{{geneid}}" "0000035974" "GARS" "0000035975" "GARS" "0000035976" "GARS" "0000035977" "GARS" "0000035978" "GARS" "0000035979" "GARS" "0000035980" "GARS" "0000035981" "GARS" "0000035982" "GARS" "0000035983" "GARS" "0000035984" "GARS" "0000035985" "GARS" "0000035986" "GARS" "0000035987" "GARS" "0000035988" "GARS" "0000035989" "GARS" "0000035990" "GARS" "0000035991" "GARS" "0000035992" "GARS" "0000035993" "GARS" "0000206520" "GARS" "0000206521" "GARS" "0000206522" "GARS" "0000206523" "GARS" "0000206524" "GARS" "0000206525" "GARS" "0000206526" "GARS" "0000206527" "GARS" "0000206528" "GARS" "0000206529" "GARS" "0000206530" "GARS" "0000206531" "GARS" "0000206532" "GARS" "0000206533" "GARS" "0000206534" "GARS" "0000206535" "GARS" "0000206536" "GARS" "0000206537" "GARS" "0000206538" "GARS" "0000206539" "GARS" "0000206540" "GARS" "0000206541" "GARS" "0000206542" "GARS" "0000206543" "GARS" "0000265022" "GARS" "0000297632" "GARS" "0000297633" "GARS" "0000297634" "GARS" "0000297636" "GARS" "0000297640" "GARS" "0000297658" "GARS" "0000297663" "GARS" "0000297664" "GARS" "0000297665" "GARS" "0000297666" "GARS" "0000297667" "GARS" "0000297668" "GARS" "0000297669" "GARS" "0000301107" "GARS" "0000301165" "GARS" "0000301167" "GARS" "0000301168" "GARS" "0000301267" "GARS" "0000301267" "PMP22" "0000375861" "ATP8A2" "0000400782" "GARS" "0000400783" "GARS" "0000429724" "GARS" ## 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 = 168 "{{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}}" "0000063099" "1" "10" "7" "30671087" "30671087" "subst" "0.0248385" "01164" "GARS_000061" "g.30671087T>C" "" "" "" "" "" "Germline" "" "rs14270" "0" "" "" "g.30631471T>C" "" "benign" "" "0000063100" "1" "10" "7" "30661237" "30661237" "subst" "0" "01164" "GARS_000073" "g.30661237G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.30621621G>A" "" "benign" "" "0000063101" "1" "10" "7" "30640989" "30640989" "subst" "0" "01164" "GARS_000066" "g.30640989T>C" "" "" "" "" "" "Germline" "" "rs10280491" "0" "" "" "g.30601373T>C" "" "benign" "" "0000063102" "1" "50" "7" "30673527" "30673527" "del" "0" "01164" "GARS_000065" "g.30673527del" "" "" "" "*51delA" "" "Germline" "" "" "0" "" "" "g.30633911del" "" "VUS" "" "0000063103" "1" "50" "7" "30642708" "30642708" "subst" "0" "01164" "GARS_000067" "g.30642708G>A" "" "" "" "" "PolyPhen: benign" "Germline" "" "" "0" "" "" "g.30603092G>A" "" "VUS" "" "0000063104" "1" "10" "7" "30651922" "30651922" "del" "0" "01164" "GARS_000069" "g.30651922del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.30612306del" "" "benign" "" "0000063105" "1" "10" "7" "30668131" "30668131" "subst" "0.0243962" "01164" "GARS_000075" "g.30668131T>C" "" "" "" "" "" "Germline" "" "rs118002895" "0" "" "" "g.30628515T>C" "" "benign" "" "0000063106" "1" "50" "7" "30671921" "30671921" "subst" "0.00176719" "01164" "GARS_000062" "g.30671921C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.30632305C>T" "" "VUS" "" "0000063107" "1" "50" "7" "30634313" "30634313" "subst" "0" "01164" "GARS_000077" "g.30634313G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.30594697G>A" "" "VUS" "" "0000063108" "1" "50" "7" "30661201" "30661201" "subst" "0" "01164" "GARS_000072" "g.30661201A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.30621585A>G" "" "VUS" "" "0000063109" "1" "10" "7" "30655489" "30655489" "subst" "0.106748" "01164" "GARS_000016" "g.30655489A>T" "" "" "" "" "" "Germline" "" "rs2527878" "0" "" "" "g.30615873A>T" "" "benign" "" "0000063110" "1" "10" "7" "30673401" "30673401" "subst" "0.0363355" "01164" "GARS_000064" "g.30673401A>G" "" "" "" "" "" "Germline" "" "rs4593" "0" "" "" "g.30633785A>G" "" "benign" "" "0000063111" "1" "50" "7" "30673364" "30673364" "subst" "0" "01164" "GARS_000063" "g.30673364C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.30633748C>T" "" "VUS" "" "0000063112" "1" "10" "7" "30655542" "30655542" "subst" "0.0248637" "01164" "GARS_000071" "g.30655542T>C" "" "" "" "" "" "Germline" "" "rs11553502" "0" "" "" "g.30615926T>C" "" "benign" "" "0000063113" "1" "10" "7" "30634630" "30634630" "subst" "0.111548" "01164" "GARS_000012" "g.30634630G>C" "" "" "" "" "" "Germline" "" "rs2529438" "0" "" "" "g.30595014G>C" "" "benign" "" "0000063114" "1" "10" "7" "30662087" "30662087" "subst" "0.0333046" "01164" "GARS_000074" "g.30662087T>C" "" "" "" "" "" "Germline" "" "rs75855065" "0" "" "" "g.30622471T>C" "" "benign" "" "0000063115" "1" "50" "7" "30639664" "30639664" "subst" "0" "01164" "GARS_000079" "g.30639664A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.30600048A>T" "" "VUS" "" "0000063116" "1" "90" "7" "30640795" "30640795" "subst" "0" "01164" "GARS_000002" "g.30640795T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.30601179T>C" "" "pathogenic" "" "0000063117" "1" "50" "7" "30671002" "30671002" "subst" "0" "01164" "GARS_000076" "g.30671002T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.30631386T>C" "" "VUS" "" "0000063118" "1" "90" "7" "30651837" "30651837" "subst" "0" "01164" "GARS_000068" "g.30651837C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.30612221C>A" "" "pathogenic" "" "0000079307" "0" "90" "7" "23187650" "32932034" "del" "0" "00006" "ADCYAP1R1_000001" "g.23187650_32932034del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000246581" "0" "10" "7" "30673401" "30673401" "subst" "0.0363355" "02330" "GARS_000064" "g.30673401A>G" "" "" "" "GARS1(NM_002047.4):c.2145A>G (p.T715=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30633785A>G" "" "benign" "" "0000246644" "0" "90" "7" "30639612" "30639612" "subst" "0" "02330" "GARS_000011" "g.30639612A>G" "" "" "" "GARS1(NM_002047.4):c.374A>G (p.E125G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30599996A>G" "" "pathogenic" "" "0000246645" "0" "90" "7" "30661064" "30661064" "subst" "0" "02330" "GARS_000005" "g.30661064A>G" "" "" "" "GARS1(NM_002047.4):c.1415A>G (p.H472R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30621448A>G" "" "pathogenic" "" "0000246646" "0" "90" "7" "30651830" "30651830" "subst" "0" "02330" "GARS_000004" "g.30651830A>T" "" "" "" "GARS1(NM_002047.4):c.1000A>T (p.I334F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30612214A>T" "" "pathogenic" "" "0000246656" "0" "30" "7" "30638442" "30638442" "subst" "0.00025993" "02330" "GARS_000024" "g.30638442A>G" "" "" "" "GARS(NM_002047.2):c.253A>G (p.K85E, p.(Lys85Glu)), GARS1(NM_002047.4):c.253A>G (p.K85E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30598826A>G" "" "likely benign" "" "0000246659" "0" "50" "7" "30655580" "30655580" "subst" "0.000251789" "02330" "GARS_000035" "g.30655580A>G" "" "" "" "GARS1(NM_001316772.1):c.938A>G (p.N313S), GARS1(NM_002047.4):c.1100A>G (p.N367S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30615964A>G" "" "VUS" "" "0000276994" "0" "10" "7" "30651875" "30651875" "subst" "0.00171849" "02330" "GARS_000033" "g.30651875T>G" "" "" "" "GARS1(NM_002047.2):c.1031+14T>G, GARS1(NM_002047.4):c.1031+14T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30612259T>G" "" "benign" "" "0000276995" "0" "10" "7" "30655542" "30655542" "subst" "0.0248637" "02330" "GARS_000071" "g.30655542T>C" "" "" "" "GARS1(NM_002047.4):c.1062T>C (p.F354=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30615926T>C" "" "benign" "" "0000276996" "0" "10" "7" "30634548" "30634548" "subst" "0.0116482" "02330" "GARS_000053" "g.30634548C>T" "" "" "" "GARS1(NM_002047.4):c.11C>T (p.P4L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30594932C>T" "" "benign" "" "0000276997" "0" "10" "7" "30634661" "30634661" "subst" "0.704163" "02330" "GARS_000013" "g.30634661C>G" "" "" "" "GARS1(NM_002047.4):c.124C>G (p.P42A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30595045C>G" "" "benign" "" "0000276998" "0" "50" "7" "30661040" "30661040" "subst" "4.06108E-6" "02330" "GARS_000036" "g.30661040G>A" "" "" "" "GARS1(NM_002047.4):c.1391G>A (p.R464H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30621424G>A" "" "VUS" "" "0000276999" "0" "10" "7" "30662046" "30662046" "subst" "4.06147E-6" "02330" "GARS_000038" "g.30662046T>A" "" "" "" "GARS1(NM_002047.4):c.1581T>A (p.I527=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30622430T>A" "" "benign" "" "0000277000" "0" "10" "7" "30662087" "30662087" "subst" "0.0333046" "02330" "GARS_000074" "g.30662087T>C" "" "" "" "GARS1(NM_002047.4):c.1613+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30622471T>C" "" "benign" "" "0000277001" "0" "90" "7" "30665896" "30665896" "subst" "2.44326E-5" "02330" "GARS_000006" "g.30665896G>A" "" "" "" "GARS1(NM_002047.4):c.1660G>A (p.D554N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30626280G>A" "" "pathogenic" "" "0000277002" "0" "70" "7" "30668214" "30668214" "subst" "0" "02330" "GARS_000040" "g.30668214G>A" "" "" "" "GARS1(NM_002047.4):c.1738G>A (p.G580S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30628598G>A" "" "likely pathogenic" "" "0000277003" "0" "90" "7" "30668214" "30668214" "subst" "0" "02330" "GARS_000007" "g.30668214G>C" "" "" "" "GARS1(NM_002047.4):c.1738G>C (p.G580R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30628598G>C" "" "pathogenic" "" "0000277004" "0" "30" "7" "30668299" "30668299" "subst" "0.000113755" "02330" "GARS_000042" "g.30668299T>C" "" "" "" "GARS1(NM_002047.2):c.1809+14T>C, GARS1(NM_002047.4):c.1809+14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30628683T>C" "" "likely benign" "" "0000277005" "0" "10" "7" "30671087" "30671087" "subst" "0.0248385" "02330" "GARS_000061" "g.30671087T>C" "" "" "" "GARS1(NM_002047.4):c.1833T>C (p.V611=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30631471T>C" "" "benign" "" "0000277006" "0" "50" "7" "30671106" "30671106" "subst" "7.72823E-5" "02330" "GARS_000043" "g.30671106G>A" "" "" "" "GARS1(NM_002047.4):c.1852G>A (p.V618I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30631490G>A" "" "VUS" "" "0000277007" "0" "90" "7" "30671863" "30671863" "subst" "0.000203404" "02330" "GARS_000008" "g.30671863C>T" "" "" "" "GARS1(NM_002047.4):c.1904C>T (p.S635L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30632247C>T" "" "pathogenic" "" "0000277008" "0" "90" "7" "30671914" "30671914" "subst" "0" "02330" "GARS_000009" "g.30671914G>C" "" "" "" "GARS1(NM_002047.4):c.1955G>C (p.G652A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30632298G>C" "" "pathogenic" "" "0000277009" "0" "50" "7" "30671922" "30671922" "subst" "0" "02330" "GARS_000046" "g.30671922G>A" "" "" "" "GARS1(NM_002047.4):c.1963G>A (p.G655R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30632306G>A" "" "VUS" "" "0000277010" "0" "10" "7" "30673345" "30673345" "subst" "0.559692" "02330" "GARS_000020" "g.30673345C>T" "" "" "" "GARS1(NM_002047.4):c.2095-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30633729C>T" "" "benign" "" "0000277011" "0" "10" "7" "30634764" "30634764" "subst" "0.112933" "02330" "GARS_000014" "g.30634764C>T" "" "" "" "GARS1(NM_002047.4):c.222+5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30595148C>T" "" "benign" "" "0000277012" "0" "90" "7" "30639570" "30639570" "subst" "0" "02330" "GARS_000010" "g.30639570C>T" "" "" "" "GARS1(NM_002047.4):c.332C>T (p.A111V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30599954C>T" "" "pathogenic" "" "0000277013" "0" "90" "7" "30640794" "30640794" "subst" "0" "02330" "GARS_000029" "g.30640794C>T" "" "" "" "GARS1(NM_002047.4):c.547C>T (p.L183F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30601178C>T" "" "pathogenic" "" "0000277014" "0" "90" "7" "30649345" "30649345" "subst" "4.06577E-6" "02330" "GARS_000003" "g.30649345G>C" "" "" "" "GARS1(NM_002047.4):c.880G>C (p.G294R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30609729G>C" "" "pathogenic" "" "0000277015" "0" "10" "7" "30634630" "30634630" "subst" "0.111548" "02330" "GARS_000012" "g.30634630G>C" "" "" "" "GARS1(NM_002047.4):c.93G>C (p.L31=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30595014G>C" "" "benign" "" "0000280989" "0" "10" "7" "30634661" "30634661" "subst" "0.704163" "02325" "GARS_000013" "g.30634661C>G" "" "" "" "GARS1(NM_002047.4):c.124C>G (p.P42A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30595045C>G" "" "benign" "" "0000280990" "0" "10" "7" "30673345" "30673345" "subst" "0.559692" "02325" "GARS_000020" "g.30673345C>T" "" "" "" "GARS1(NM_002047.4):c.2095-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30633729C>T" "" "benign" "" "0000284581" "0" "10" "7" "30651875" "30651875" "subst" "0.00171849" "02326" "GARS_000033" "g.30651875T>G" "" "" "" "GARS1(NM_002047.2):c.1031+14T>G, GARS1(NM_002047.4):c.1031+14T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30612259T>G" "" "benign" "" "0000288211" "0" "50" "7" "30639648" "30639648" "subst" "0" "01943" "GARS_000028" "g.30639648C>T" "" "" "" "GARS(NM_002047.2):c.410C>T (p.A137V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30600032C>T" "" "VUS" "" "0000331499" "0" "50" "7" "30639646" "30639646" "subst" "0" "01804" "GARS_000027" "g.30639646A>T" "" "" "" "GARS(NM_002047.2):c.408A>T (p.(Gln136His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30600030A>T" "" "VUS" "" "0000337664" "0" "10" "7" "30634333" "30634333" "subst" "0" "02327" "GARS_000048" "g.30634333C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30594717C>T" "" "benign" "" "0000337665" "0" "10" "7" "30634764" "30634764" "subst" "0.112933" "02327" "GARS_000014" "g.30634764C>T" "" "" "" "GARS1(NM_002047.4):c.222+5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30595148C>T" "" "benign" "" "0000337668" "0" "10" "7" "30662087" "30662087" "subst" "0.0333046" "02327" "GARS_000074" "g.30662087T>C" "" "" "" "GARS1(NM_002047.4):c.1613+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30622471T>C" "" "benign" "" "0000337669" "0" "10" "7" "30673345" "30673345" "subst" "0.559692" "02327" "GARS_000020" "g.30673345C>T" "" "" "" "GARS1(NM_002047.4):c.2095-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30633729C>T" "" "benign" "" "0000339800" "0" "10" "7" "30634630" "30634630" "subst" "0.111548" "02327" "GARS_000012" "g.30634630G>C" "" "" "" "GARS1(NM_002047.4):c.93G>C (p.L31=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30595014G>C" "" "benign" "" "0000339801" "0" "10" "7" "30655542" "30655542" "subst" "0.0248637" "02327" "GARS_000071" "g.30655542T>C" "" "" "" "GARS1(NM_002047.4):c.1062T>C (p.F354=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30615926T>C" "" "benign" "" "0000339802" "0" "10" "7" "30671087" "30671087" "subst" "0.0248385" "02327" "GARS_000061" "g.30671087T>C" "" "" "" "GARS1(NM_002047.4):c.1833T>C (p.V611=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30631471T>C" "" "benign" "" "0000339803" "0" "10" "7" "30673401" "30673401" "subst" "0.0363355" "02327" "GARS_000064" "g.30673401A>G" "" "" "" "GARS1(NM_002047.4):c.2145A>G (p.T715=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30633785A>G" "" "benign" "" "0000348449" "0" "10" "7" "30634661" "30634661" "subst" "0.704163" "02327" "GARS_000013" "g.30634661C>G" "" "" "" "GARS1(NM_002047.4):c.124C>G (p.P42A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30595045C>G" "" "benign" "" "0000348479" "0" "10" "7" "30634548" "30634548" "subst" "0.0116482" "02327" "GARS_000053" "g.30634548C>T" "" "" "" "GARS1(NM_002047.4):c.11C>T (p.P4L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30594932C>T" "" "benign" "" "0000349911" "0" "50" "7" "30639639" "30639639" "subst" "4.06174E-6" "02327" "GARS_000050" "g.30639639A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30600023A>G" "" "VUS" "" "0000351089" "0" "50" "7" "30638425" "30638425" "subst" "8.12453E-5" "02327" "GARS_000049" "g.30638425G>A" "" "" "" "GARS1(NM_001316772.1):c.74G>A (p.R25Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30598809G>A" "" "VUS" "" "0000351090" "0" "50" "7" "30640809" "30640809" "subst" "0.000101549" "02327" "GARS_000051" "g.30640809G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30601193G>A" "" "VUS" "" "0000436128" "1" "90" "7" "30651723" "30651723" "subst" "0" "00006" "GARS_000001" "g.30651723C>T" "" "{PMID:Abe 2009:19329989}, {OMIM600287:0006}" "" "P244L" "not in 200 control chromosomes" "Unknown" "" "" "0" "" "" "g.30612107C>T" "" "pathogenic" "" "0000436129" "1" "90" "7" "30640795" "30640795" "subst" "0" "00006" "GARS_000002" "g.30640795T>C" "" "{PMID:Sivakumar 2005:16014653}" "" "904C>T (L129P)" "not in 376 control chromosomes" "Germline" "" "" "0" "" "" "g.30601179T>C" "" "pathogenic (dominant)" "" "0000436130" "1" "90" "7" "30640795" "30640795" "subst" "0" "00006" "GARS_000002" "g.30640795T>C" "" "{PMID:Antonellis 2003:12690580}, {OMIM600287:0002}" "" "904C>T (L129P)" "not in 376 control chromosomes" "Germline" "" "" "0" "" "" "g.30601179T>C" "" "pathogenic (dominant)" "" "0000436131" "1" "90" "7" "30649345" "30649345" "subst" "4.06577E-6" "00006" "GARS_000003" "g.30649345G>C" "" "{PMID:Antonellis 2003:12690580}, {OMIM600287:0001}" "" "1236G>C (G240R)" "" "Germline" "" "" "0" "" "" "g.30609729G>C" "" "pathogenic (dominant)" "" "0000436132" "1" "90" "7" "30649345" "30649345" "subst" "4.06577E-6" "00006" "GARS_000003" "g.30649345G>C" "" "{PMID:Antonellis 2003:12690580}, {OMIM600287:0001}" "" "1236G>C (G240R)" "not in 368 control chromosomes" "Germline" "" "" "0" "" "" "g.30609729G>C" "" "pathogenic (dominant)" "" "0000436133" "1" "90" "7" "30651830" "30651830" "subst" "0" "00006" "GARS_000004" "g.30651830A>T" "" "{PMID:James 2006:17101916}" "" "I120F" "" "Germline" "" "" "0" "" "" "g.30612214A>T" "" "pathogenic (dominant)" "" "0000436134" "1" "90" "7" "30661064" "30661064" "subst" "0" "00006" "GARS_000005" "g.30661064A>G" "" "{PMID:Sivakumar 2005:16014653}" "" "H418R" "not in 324 control chromosomes" "Germline" "" "" "0" "" "" "g.30621448A>G" "" "pathogenic (dominant)" "" "0000436135" "1" "90" "7" "30665896" "30665896" "subst" "2.44326E-5" "00006" "GARS_000006" "g.30665896G>A" "" "{PMID:Del Bo 2006:16534118}, {OMIM600287:0005}" "" "D500N" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.30626280G>A" "" "pathogenic (dominant)" "" "0000436136" "1" "90" "7" "30668214" "30668214" "subst" "0" "00006" "GARS_000007" "g.30668214G>C" "" "{PMID:Antonellis 2003:12690580}, {OMIM600287:0004}" "" "2094G>C (G526R)" "not in 360 control chromosomes" "Germline" "" "rs137852646" "0" "" "" "g.30628598G>C" "" "pathogenic (dominant)" "" "0000436137" "1" "90" "7" "30671863" "30671863" "subst" "0.000203404" "00006" "GARS_000008" "g.30671863C>T" "" "{PMID:James 2006:17101916}" "" "2260C>T (S581L)" "" "Germline" "" "" "0" "" "" "g.30632247C>T" "" "pathogenic (dominant)" "" "0000436138" "1" "90" "7" "30671914" "30671914" "subst" "0" "00006" "GARS_000009" "g.30671914G>C" "" "{PMID:James 2006:17101916}" "" "2313G>C (G598A)" "" "De novo" "" "" "0" "" "" "g.30632298G>C" "" "pathogenic" "" "0000436139" "1" "90" "7" "30639570" "30639570" "subst" "0" "00006" "GARS_000010" "g.30639570C>T" "" "{PMID:Rohkamm 2007:17663003}" "" "688C>T (A57V)" "" "Unknown" "" "" "0" "" "" "g.30599954C>T" "" "pathogenic" "" "0000436140" "1" "90" "7" "30639612" "30639612" "subst" "0" "00006" "GARS_000011" "g.30639612A>G" "" "{PMID:Antonellis 2003:12690580}, {OMIM600287:0003}" "" "730A>G (E71G)" "not in 398 control chromosomes" "Germline" "" "rs137852645" "0" "" "" "g.30599996A>G" "" "pathogenic (dominant)" "" "0000436141" "1" "90" "7" "30639612" "30639612" "subst" "0" "00006" "GARS_000011" "g.30639612A>G" "" "{PMID:Antonellis 2003:12690580}, {OMIM600287:0003}" "" "730A>G (E71G)" "not in 398 control chromosomes" "Germline" "" "rs137852645" "0" "" "" "g.30599996A>G" "" "pathogenic (dominant)" "" "0000436142" "0" "10" "7" "30634630" "30634630" "subst" "0.111548" "00006" "GARS_000012" "g.30634630G>C" "" "{PMID:Abe 2009:19329989}" "" "" "" "Germline" "" "rs2529438" "0" "" "" "g.30595014G>C" "" "benign" "" "0000436143" "0" "10" "7" "30634661" "30634661" "subst" "0.704163" "00006" "GARS_000013" "g.30634661C>G" "" "{PMID:Abe 2009:19329989}" "" "" "" "Germline" "" "rs1049402" "0" "" "" "g.30595045C>G" "" "benign" "" "0000436144" "0" "10" "7" "30634764" "30634764" "subst" "0.112933" "00006" "GARS_000014" "g.30634764C>T" "" "{PMID:Abe 2009:19329989}" "" "" "" "Germline" "" "rs2072236" "0" "" "" "g.30595148C>T" "" "benign" "" "0000436145" "0" "10" "7" "30634853" "30634855" "del" "0" "00006" "GARS_000015" "g.30634853_30634855del" "" "{PMID:Abe 2009:19329989}" "" "c.222+93_95delCCT" "" "Germline" "" "rs2527878" "0" "" "" "g.30595237_30595239del" "" "benign" "" "0000436146" "0" "10" "7" "30655489" "30655489" "subst" "0.106748" "00006" "GARS_000016" "g.30655489A>T" "" "{PMID:Abe 2009:19329989}" "" "" "" "Germline" "" "rs2709772" "0" "" "" "g.30615873A>T" "" "benign" "" "0000436147" "0" "10" "7" "30656991" "30656991" "subst" "0" "00006" "GARS_000017" "g.30656991A>G" "" "{PMID:Abe 2009:19329989}" "" "" "" "Germline" "" "" "0" "" "" "g.30617375A>G" "" "benign" "" "0000436148" "0" "10" "7" "30668192" "30668192" "subst" "0.00021118" "00006" "GARS_000018" "g.30668192G>A" "" "{PMID:Abe 2009:19329989}" "" "P518P" "" "Germline" "" "" "0" "" "" "g.30628576G>A" "" "benign" "" "0000436149" "0" "10" "7" "30672079" "30672079" "subst" "0" "00006" "GARS_000019" "g.30672079T>G" "" "{PMID:Abe 2009:19329989}" "" "" "" "Germline" "" "" "0" "" "" "g.30632463T>G" "" "benign" "" "0000436150" "0" "10" "7" "30673345" "30673345" "subst" "0.559692" "00006" "GARS_000020" "g.30673345C>T" "" "{PMID:Abe 2009:19329989}" "" "" "" "Germline" "" "rs2240401" "0" "" "" "g.30633729C>T" "" "benign" "" "0000436151" "0" "10" "7" "30673468" "30673468" "subst" "0.000170734" "00006" "GARS_000021" "g.30673468G>A" "" "{PMID:Abe 2009:19329989}" "" "Glu684Lys" "" "Germline" "" "" "0" "" "" "g.30633852G>A" "" "benign" "" "0000531809" "0" "10" "7" "30634596" "30634598" "del" "0" "02330" "GARS_000080" "g.30634596_30634598del" "" "" "" "GARS1(NM_002047.2):c.59_61delTGC (p.L20del), GARS1(NM_002047.4):c.59_61delTGC (p.L20del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30594980_30594982del" "" "benign" "" "0000531810" "0" "50" "7" "30638442" "30638442" "subst" "0.00025993" "01943" "GARS_000024" "g.30638442A>G" "" "" "" "GARS(NM_002047.2):c.253A>G (p.K85E, p.(Lys85Glu)), GARS1(NM_002047.4):c.253A>G (p.K85E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30598826A>G" "" "VUS" "" "0000531811" "0" "50" "7" "30639656" "30639656" "subst" "8.12407E-6" "02330" "GARS_000081" "g.30639656A>G" "" "" "" "GARS1(NM_002047.4):c.418A>G (p.I140V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30600040A>G" "" "VUS" "" "0000531812" "0" "70" "7" "30642678" "30642678" "subst" "0" "01804" "GARS_000082" "g.30642678G>C" "" "" "" "GARS(NM_002047.2):c.598G>C (p.(Asp200His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30603062G>C" "" "likely pathogenic" "" "0000531813" "0" "50" "7" "30649252" "30649252" "subst" "0.000138166" "02330" "GARS_000083" "g.30649252G>A" "" "" "" "GARS1(NM_001316772.1):c.625G>A (p.V209I), GARS1(NM_002047.2):c.787G>A (p.V263I), GARS1(NM_002047.4):c.787G>A (p.V263I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30609636G>A" "" "VUS" "" "0000531814" "0" "10" "7" "30649268" "30649268" "subst" "0.00339669" "02330" "GARS_000030" "g.30649268C>T" "" "" "" "GARS(NM_002047.2):c.803C>T (p.T268I), GARS1(NM_002047.2):c.803C>T (p.T268I), GARS1(NM_002047.4):c.803C>T (p.T268I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30609652C>T" "" "benign" "" "0000531815" "0" "70" "7" "30668181" "30668181" "subst" "0" "02327" "GARS_000084" "g.30668181G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30628565G>A" "" "likely pathogenic" "" "0000595605" "0" "70" "7" "30655651" "30655651" "subst" "2.84354E-5" "01364" "GARS_000085" "g.30655651C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.30616035C>T" "" "likely pathogenic" "" "0000611040" "0" "30" "7" "30634596" "30634598" "del" "0" "02325" "GARS_000080" "g.30634596_30634598del" "" "" "" "GARS1(NM_002047.2):c.59_61delTGC (p.L20del), GARS1(NM_002047.4):c.59_61delTGC (p.L20del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30594980_30594982del" "" "likely benign" "" "0000611041" "0" "30" "7" "30649268" "30649268" "subst" "0.00339669" "02325" "GARS_000030" "g.30649268C>T" "" "" "" "GARS(NM_002047.2):c.803C>T (p.T268I), GARS1(NM_002047.2):c.803C>T (p.T268I), GARS1(NM_002047.4):c.803C>T (p.T268I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30609652C>T" "" "likely benign" "" "0000611042" "0" "30" "7" "30651697" "30651697" "subst" "0.000215435" "02330" "GARS_000086" "g.30651697T>G" "" "" "" "GARS1(NM_002047.4):c.882-15T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30612081T>G" "" "likely benign" "" "0000611043" "0" "50" "7" "30668191" "30668191" "subst" "1.62448E-5" "02327" "GARS_000087" "g.30668191C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30628575C>T" "" "VUS" "" "0000611044" "0" "50" "7" "30668233" "30668233" "subst" "0" "02327" "GARS_000088" "g.30668233A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30628617A>G" "" "VUS" "" "0000611045" "0" "50" "7" "30671076" "30671076" "subst" "4.07E-6" "02327" "GARS_000089" "g.30671076C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30631460C>T" "" "VUS" "" "0000647127" "0" "50" "7" "30634539" "30634539" "subst" "0" "01164" "GARS_000090" "g.30634539T>C" "" "" "" "" "ACMG: PM2; PVS1 not selected, in-frame ATG <200nt from c.1A" "Germline" "" "" "0" "" "" "g.30594923T>C" "" "VUS" "ACMG" "0000652282" "1" "50" "7" "30634540" "30634540" "subst" "0" "03575" "GARS_000091" "g.30634540G>T" "79/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "79 heterozygous; {DB:CLININ7:30634540}" "Germline" "" "" "0" "" "" "g.30594924G>T" "" "VUS" "" "0000652283" "1" "30" "7" "30634548" "30634548" "subst" "0.0116482" "03575" "GARS_000053" "g.30634548C>T" "15/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "15 heterozygous, no homozygous; {DB:CLININrs62636572}" "Germline" "" "rs62636572" "0" "" "" "g.30594932C>T" "" "likely benign" "" "0000652284" "1" "30" "7" "30649231" "30649231" "subst" "3.65711E-5" "03575" "GARS_000092" "g.30649231G>C" "1/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs201399681}" "Germline" "" "rs201399681" "0" "" "" "g.30609615G>C" "" "likely benign" "" "0000652285" "1" "30" "7" "30649268" "30649268" "subst" "0.00339669" "03575" "GARS_000030" "g.30649268C>T" "2/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs2230310}" "Germline" "" "rs2230310" "0" "" "" "g.30609652C>T" "" "likely benign" "" "0000652286" "1" "30" "7" "30668131" "30668131" "subst" "0.0243962" "03575" "GARS_000075" "g.30668131T>C" "77/2790 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "77 heterozygous, no homozygous; {DB:CLININrs118002895}" "Germline" "" "rs118002895" "0" "" "" "g.30628515T>C" "" "likely benign" "" "0000655816" "0" "50" "7" "30634581" "30634581" "subst" "6.02996E-5" "02330" "GARS_000093" "g.30634581C>T" "" "" "" "GARS1(NM_002047.4):c.44C>T (p.A15V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30594965C>T" "" "VUS" "" "0000655817" "0" "50" "7" "30638491" "30638491" "subst" "0.000308863" "02327" "GARS_000094" "g.30638491G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30598875G>A" "" "VUS" "" "0000660237" "0" "90" "7" "30639611" "30639611" "subst" "0" "00006" "GARS_000095" "g.30639611G>A" "" "{PMID:Forrester 2020:31985473}" "" "" "ACMG PS4_SUP, PM2, PM5 ,PM6, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.30599995G>A" "" "pathogenic (dominant)" "ACMG" "0000660238" "1" "50" "7" "30634617" "30634617" "subst" "0" "00006" "GARS_000096" "g.30634617G>C" "" "{PMID:Forrester 2020:31985473}" "" "" "ACMG PM2, BP4" "De novo" "" "" "0" "" "" "g.30595001G>C" "" "VUS" "ACMG" "0000660239" "1" "70" "7" "30661993" "30661993" "subst" "0" "00006" "GARS_000097" "g.30661993A>C" "" "{PMID:Forrester 2020:31985473}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.30622377A>C" "" "likely pathogenic (dominant)" "ACMG" "0000660242" "1" "70" "7" "30665899" "30665899" "subst" "0" "00006" "GARS_000098" "g.30665899A>G" "" "{PMID:Forrester 2020:31985473}" "" "" "ACMG PM2, BP4" "Germline" "" "" "0" "" "" "g.30626283A>G" "" "likely pathogenic (dominant)" "ACMG" "0000660248" "0" "90" "7" "30639611" "30639611" "subst" "0" "00006" "GARS_000095" "g.30639611G>A" "" "{PMID:Farwell 2015:25356970}" "" "E125K" "" "De novo" "" "" "0" "" "" "g.30599995G>A" "" "pathogenic (dominant)" "" "0000660268" "21" "70" "7" "30642727" "30642727" "subst" "4.06194E-6" "00006" "GARS_000099" "g.30642727A>G" "" "{PMID:Boczonadi 2018:29648643}, {PMID:Forrester 2020:31985473}" "" "" "ACMG PM1, PM2, PP3, PP4_STR" "Germline" "yes" "" "0" "" "" "g.30603111A>G" "" "likely pathogenic (dominant)" "ACMG" "0000660271" "21" "70" "7" "30642727" "30642727" "subst" "4.06194E-6" "00006" "GARS_000099" "g.30642727A>G" "" "{PMID:Boczonadi 2018:29648643}" "" "" "" "Germline" "yes" "" "0" "" "" "g.30603111A>G" "" "likely pathogenic (dominant)" "" "0000660272" "11" "70" "7" "30671863" "30671863" "subst" "0.000203404" "00006" "GARS_000008" "g.30671863C>T" "" "{PMID:McMillan 2014:24669931}, {PMID:Boczonadi 2018:29648643}" "" "" "" "Germline" "" "" "0" "" "" "g.30632247C>T" "" "likely pathogenic (dominant)" "" "0000660273" "21" "50" "7" "30668263" "30668263" "subst" "0" "00006" "GARS_000100" "g.30668263G>A" "" "{PMID:McMillan 2014:24669931}, {PMID:Boczonadi 2018:29648643}" "" "" "" "Germline" "" "" "0" "" "" "g.30628647G>A" "" "VUS" "" "0000660274" "0" "70" "7" "30671863" "30671863" "subst" "0.000203404" "00006" "GARS_000008" "g.30671863C>T" "" "{PMID:McMillan 2014:24669931}, {PMID:Boczonadi 2018:29648643}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.30632247C>T" "" "likely pathogenic (dominant)" "" "0000660275" "0" "50" "7" "30668263" "30668263" "subst" "0" "00006" "GARS_000100" "g.30668263G>A" "" "{PMID:Boczonadi 2018:29648643}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.30628647G>A" "" "VUS" "" "0000660276" "0" "70" "7" "30651809" "30651809" "subst" "0" "00006" "GARS_000101" "g.30651809G>A" "" "{PMID:Antoniadi 2015:26392352}, {PMID:Forrester 2020:31985473}" "" "NM_002047.1:817G>A (Gly273Arg)" "ACMG PS4 SUP, PM1_SUP, PM2, PM6, PP3" "De novo" "" "" "0" "" "" "g.30612193G>A" "" "likely pathogenic (dominant)" "ACMG" "0000660277" "11" "90" "7" "30661064" "30661064" "subst" "0" "00006" "GARS_000005" "g.30661064A>G" "" "{PMID:Forrester 2020:31985473}" "" "" "" "Germline" "yes" "" "0" "" "" "g.30621448A>G" "" "pathogenic (dominant)" "" "0000660278" "1" "90" "7" "30661064" "30661064" "subst" "0" "00006" "GARS_000005" "g.30661064A>G" "" "{PMID:Forrester 2020:31985473}" "" "" "" "Germline" "yes" "" "0" "" "" "g.30621448A>G" "" "pathogenic (dominant)" "" "0000660317" "3" "70" "7" "30672024" "30672024" "subst" "4.06157E-6" "00006" "GARS_000102" "g.30672024C>T" "" "{PMID:Taylor 2014:25058219}" "" "" "" "Germline" "" "" "0" "" "" "g.30632408C>T" "" "likely pathogenic (recessive)" "" "0000664002" "0" "90" "7" "30661064" "30661064" "subst" "0" "00006" "GARS_000005" "g.30661064A>G" "" "{PMID:Antoniadi 2015:26392352}" "" "NM_002047.1:c.1253A>G" "" "Germline" "" "" "0" "" "" "g.30621448A>G" "" "pathogenic (dominant)" "" "0000664060" "0" "70" "7" "30638491" "30638491" "subst" "0.000308863" "00006" "GARS_000094" "g.30638491G>A" "" "{PMID:Antoniadi 2015:26392352}" "" "NM_002047.1:c.140G>A" "asymptomatic parent is heterozygous, incomplete penetrance recorded" "Germline" "" "rs200887429" "0" "" "" "g.30598875G>A" "" "likely pathogenic (!)" "" "0000664062" "0" "70" "7" "30651829" "30651829" "subst" "0" "00006" "GARS_000103" "g.30651829G>C" "" "{PMID:Antoniadi 2015:26392352}" "" "NM_002047.1:c.837G>C" "" "Germline" "" "" "0" "" "" "g.30612213G>C" "" "likely pathogenic (dominant)" "" "0000664063" "0" "70" "7" "30661993" "30661993" "subst" "0" "00006" "GARS_000097" "g.30661993A>C" "" "{PMID:Antoniadi 2015:26392352}" "" "NM_002047.1:c.1366A>C" "AD, segregates with disease" "Germline" "" "" "0" "" "" "g.30622377A>C" "" "likely pathogenic (dominant)" "" "0000664189" "0" "70" "7" "30642727" "30642727" "subst" "4.06194E-6" "00006" "GARS_000099" "g.30642727A>G" "" "{PMID:Antoniadi 2015:26392352}" "" "NM_002047.1:c.485A>G" "" "Germline" "" "" "0" "" "" "g.30603111A>G" "" "likely pathogenic (dominant)" "" "0000678094" "0" "30" "7" "30649268" "30649268" "subst" "0.00339669" "02326" "GARS_000030" "g.30649268C>T" "" "" "" "GARS(NM_002047.2):c.803C>T (p.T268I), GARS1(NM_002047.2):c.803C>T (p.T268I), GARS1(NM_002047.4):c.803C>T (p.T268I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678095" "0" "50" "7" "30651813" "30651813" "subst" "0" "02330" "GARS_000104" "g.30651813A>G" "" "" "" "GARS1(NM_001316772.1):c.821A>G (p.N274S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678096" "0" "50" "7" "30671128" "30671128" "subst" "0" "02330" "GARS_000105" "g.30671128A>G" "" "" "" "GARS1(NM_001316772.1):c.1712A>G (p.Q571R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721424" "0" "30" "7" "30643152" "30643152" "subst" "0.000195059" "02330" "GARS_000106" "g.30643152C>T" "" "" "" "GARS1(NM_001316772.1):c.537C>T (p.V179=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721425" "0" "30" "7" "30649252" "30649252" "subst" "0.000138166" "02326" "GARS_000083" "g.30649252G>A" "" "" "" "GARS1(NM_001316772.1):c.625G>A (p.V209I), GARS1(NM_002047.2):c.787G>A (p.V263I), GARS1(NM_002047.4):c.787G>A (p.V263I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721426" "0" "50" "7" "30649252" "30649252" "subst" "0.000138166" "02329" "GARS_000083" "g.30649252G>A" "" "" "" "GARS1(NM_001316772.1):c.625G>A (p.V209I), GARS1(NM_002047.2):c.787G>A (p.V263I), GARS1(NM_002047.4):c.787G>A (p.V263I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721427" "0" "30" "7" "30649268" "30649268" "subst" "0.00339669" "01943" "GARS_000030" "g.30649268C>T" "" "" "" "GARS(NM_002047.2):c.803C>T (p.T268I), GARS1(NM_002047.2):c.803C>T (p.T268I), GARS1(NM_002047.4):c.803C>T (p.T268I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721428" "0" "50" "7" "30651845" "30651845" "subst" "0" "02330" "GARS_000107" "g.30651845G>A" "" "" "" "GARS1(NM_001316772.1):c.853G>A (p.G285R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721429" "0" "50" "7" "30668230" "30668230" "subst" "2.43665E-5" "02330" "GARS_000108" "g.30668230T>C" "" "" "" "GARS1(NM_001316772.1):c.1592T>C (p.M531T), GARS1(NM_002047.4):c.1754T>C (p.M585T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000787566" "0" "50" "7" "30671109" "30671109" "subst" "1.22016E-5" "00000" "GARS_000109" "g.30671109C>T" "" "0" "" "" "" "Germline" "" "rs751239315" "0" "" "" "g.30631493C>T" "" "VUS" "" "0000803128" "0" "30" "7" "30640739" "30640739" "subst" "2.84282E-5" "02330" "GARS_000110" "g.30640739C>G" "" "" "" "GARS1(NM_001316772.1):c.330C>G (p.T110=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000833083" "1" "70" "7" "30661070" "30661070" "subst" "0" "00006" "GARS_000112" "g.30661070G>C" "" "{PMID:Gonzalez-Quereda 2020:32403337}" "" "" "" "Germline" "" "" "0" "" "" "g.30621454G>C" "" "likely pathogenic" "" "0000833134" "1" "70" "7" "30638451" "30638451" "subst" "4.87389E-5" "00006" "GARS_000111" "g.30638451C>G" "" "{PMID:Gonzalez-Quereda 2020:32403337}" "" "" "" "Germline" "" "" "0" "" "" "g.30598835C>G" "" "likely pathogenic" "" "0000833775" "21" "75" "7" "30649259" "30649259" "subst" "0" "04212" "GARS_000113" "g.30649259C>A" "" "{PMID:Yalcouye 2019:31173493}" "" "" "" "Germline" "" "" "0" "" "" "g.30609643C>A" "" "pathogenic (dominant)" "" "0000833776" "21" "75" "7" "30649259" "30649259" "subst" "0" "04212" "GARS_000113" "g.30649259C>A" "" "{PMID:Yalcouye 2019:31173493}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000851593" "0" "50" "7" "30638425" "30638425" "subst" "8.12453E-5" "02330" "GARS_000049" "g.30638425G>A" "" "" "" "GARS1(NM_001316772.1):c.74G>A (p.R25Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851594" "0" "10" "7" "30649212" "30649212" "subst" "0.00397838" "02330" "GARS_000114" "g.30649212T>C" "" "" "" "GARS1(NM_001316772.1):c.585T>C (p.Y195=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851595" "0" "10" "7" "30668237" "30668237" "subst" "0.00395974" "02330" "GARS_000115" "g.30668237G>A" "" "" "" "GARS1(NM_001316772.1):c.1599G>A (p.T533=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851596" "0" "10" "7" "30671845" "30671845" "subst" "0.000294108" "02330" "GARS_000116" "g.30671845T>C" "" "" "" "GARS1(NM_001316772.1):c.1742-18T>C, GARS1(NM_002047.2):c.1904-18T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887854" "0" "30" "7" "30634596" "30634598" "del" "0" "02326" "GARS_000080" "g.30634596_30634598del" "" "" "" "GARS1(NM_002047.2):c.59_61delTGC (p.L20del), GARS1(NM_002047.4):c.59_61delTGC (p.L20del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887855" "0" "10" "7" "30655643" "30655643" "subst" "0.00218135" "02330" "GARS_000117" "g.30655643G>A" "" "" "" "GARS(NM_002047.4):c.1163G>A (p.(Arg388Gln)), GARS1(NM_001316772.1):c.1001G>A (p.R334Q), GARS1(NM_002047.2):c.1163G>A (p.R388Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887856" "0" "50" "7" "30668230" "30668230" "subst" "2.43665E-5" "02325" "GARS_000108" "g.30668230T>C" "" "" "" "GARS1(NM_001316772.1):c.1592T>C (p.M531T), GARS1(NM_002047.4):c.1754T>C (p.M585T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887857" "0" "30" "7" "30668299" "30668299" "subst" "0.000113755" "02326" "GARS_000042" "g.30668299T>C" "" "" "" "GARS1(NM_002047.2):c.1809+14T>C, GARS1(NM_002047.4):c.1809+14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000909335" "21" "90" "7" "30649259" "30649259" "subst" "0" "04147" "GARS_000113" "g.30649259C>A" "" "{PMID:Yalcouye 2022:31173493}" "" "" "unaffected carrier mother" "Germline" "" "" "0" "" "" "g.30609643C>A" "" "pathogenic (!)" "ACMG" "0000924708" "0" "30" "7" "30655643" "30655643" "subst" "0.00218135" "02326" "GARS_000117" "g.30655643G>A" "" "" "" "GARS(NM_002047.4):c.1163G>A (p.(Arg388Gln)), GARS1(NM_001316772.1):c.1001G>A (p.R334Q), GARS1(NM_002047.2):c.1163G>A (p.R388Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929334" "0" "30" "7" "30656798" "30656798" "subst" "0" "02330" "GARS_000118" "g.30656798A>C" "" "" "" "GARS1(NM_001316772.1):c.1101A>C (p.G367=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929335" "0" "10" "7" "30671921" "30671921" "subst" "0.00176719" "02330" "GARS_000062" "g.30671921C>T" "" "" "" "GARS1(NM_002047.4):c.1962C>T (p.I654=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000964561" "0" "30" "7" "30671845" "30671845" "subst" "0.000294108" "02326" "GARS_000116" "g.30671845T>C" "" "" "" "GARS1(NM_001316772.1):c.1742-18T>C, GARS1(NM_002047.2):c.1904-18T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996450" "0" "30" "7" "30638442" "30638442" "subst" "0.00025993" "01804" "GARS_000024" "g.30638442A>G" "" "" "" "GARS(NM_002047.2):c.253A>G (p.K85E, p.(Lys85Glu)), GARS1(NM_002047.4):c.253A>G (p.K85E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996451" "0" "50" "7" "30649231" "30649231" "subst" "3.65711E-5" "01804" "GARS_000092" "g.30649231G>C" "" "" "" "GARS(NM_002047.2):c.766G>C (p.(Asp256His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996452" "0" "90" "7" "30651830" "30651830" "subst" "0" "02327" "GARS_000004" "g.30651830A>T" "" "" "" "GARS1(NM_002047.4):c.1000A>T (p.I334F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000996453" "0" "50" "7" "30665933" "30665933" "subst" "0" "01804" "GARS_000119" "g.30665933A>C" "" "" "" "GARS(NM_002047.2):c.1697A>C (p.(Tyr566Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996454" "0" "50" "7" "30672003" "30672003" "subst" "0" "01804" "GARS_000120" "g.30672003C>A" "" "" "" "GARS(NM_002047.2):c.2044C>A (p.(His682Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014343" "0" "30" "7" "30634519" "30634519" "subst" "6.39577E-5" "02330" "GARS_000121" "g.30634519A>C" "" "" "" "GARS1(NM_001316772.1):c.-181A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036338" "0" "30" "7" "30655643" "30655643" "subst" "0.00218135" "01804" "GARS_000117" "g.30655643G>A" "" "" "" "GARS(NM_002047.4):c.1163G>A (p.(Arg388Gln)), GARS1(NM_001316772.1):c.1001G>A (p.R334Q), GARS1(NM_002047.2):c.1163G>A (p.R388Q)" "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 GARS ## Count = 168 "{{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}}" "0000063099" "00008352" "10" "1833" "0" "1833" "0" "c.1833T>C" "r.(=)" "p.(=)" "" "0000063100" "00008352" "10" "1467" "121" "1467" "121" "c.1467+121G>A" "r.(=)" "p.(=)" "" "0000063101" "00008352" "10" "569" "173" "569" "173" "c.569+173T>C" "r.(=)" "p.(=)" "" "0000063102" "00008352" "50" "2271" "0" "2271" "0" "c.*51del" "r.(=)" "p.(=)" "" "0000063103" "00008352" "50" "628" "0" "628" "0" "c.628G>A" "r.(?)" "p.(Glu210Lys)" "" "0000063104" "00008352" "10" "1031" "61" "1031" "61" "c.1031+61del" "r.(=)" "p.(=)" "" "0000063105" "00008352" "10" "1700" "-45" "1700" "-45" "c.1700-45T>C" "r.(=)" "p.(=)" "" "0000063106" "00008352" "50" "1962" "0" "1962" "0" "c.1962C>T" "r.(=)" "p.(=)" "" "0000063107" "00008352" "50" "-225" "0" "-225" "0" "c.-225G>A" "r.(=)" "p.(=)" "" "0000063108" "00008352" "50" "1467" "85" "1467" "85" "c.1467+85A>G" "r.(=)" "p.(=)" "" "0000063109" "00008352" "10" "1032" "-23" "1032" "-23" "c.1032-23A>T" "r.(=)" "p.(=)" "" "0000063110" "00008352" "10" "2145" "0" "2145" "0" "c.2145A>G" "r.(=)" "p.(=)" "" "0000063111" "00008352" "50" "2108" "0" "2108" "0" "c.2108C>T" "r.(?)" "p.(Pro703Leu)" "" "0000063112" "00008352" "10" "1062" "0" "1062" "0" "c.1062T>C" "r.(=)" "p.(=)" "" "0000063113" "00008352" "10" "93" "0" "93" "0" "c.93G>C" "r.(=)" "p.(=)" "" "0000063114" "00008352" "10" "1613" "9" "1613" "9" "c.1613+9T>C" "r.(=)" "p.(=)" "" "0000063115" "00008352" "50" "426" "0" "426" "0" "c.426A>T" "r.(=)" "p.(=)" "" "0000063116" "00008352" "90" "548" "0" "548" "0" "c.548T>C" "r.(?)" "p.(Leu183Pro)" "" "0000063117" "00008352" "50" "1810" "-62" "1810" "-62" "c.1810-62T>C" "r.(=)" "p.(=)" "" "0000063118" "00008352" "90" "1007" "0" "1007" "0" "c.1007C>A" "r.(?)" "p.(Pro336His)" "" "0000079307" "00008352" "00" "-7446888" "0" "2260778" "0" "c.-7446888_*2258558del" "r.0" "p.0" "" "0000246581" "00008352" "10" "2145" "0" "2145" "0" "c.2145A>G" "r.(?)" "p.(Thr715=)" "" "0000246644" "00008352" "90" "374" "0" "374" "0" "c.374A>G" "r.(?)" "p.(Glu125Gly)" "" "0000246645" "00008352" "90" "1415" "0" "1415" "0" "c.1415A>G" "r.(?)" "p.(His472Arg)" "" "0000246646" "00008352" "90" "1000" "0" "1000" "0" "c.1000A>T" "r.(?)" "p.(Ile334Phe)" "" "0000246656" "00008352" "30" "253" "0" "253" "0" "c.253A>G" "r.(?)" "p.(Lys85Glu)" "" "0000246659" "00008352" "50" "1100" "0" "1100" "0" "c.1100A>G" "r.(?)" "p.(Asn367Ser)" "" "0000276994" "00008352" "10" "1031" "14" "1031" "14" "c.1031+14T>G" "r.(=)" "p.(=)" "" "0000276995" "00008352" "10" "1062" "0" "1062" "0" "c.1062T>C" "r.(?)" "p.(Phe354=)" "" "0000276996" "00008352" "10" "11" "0" "11" "0" "c.11C>T" "r.(?)" "p.(Pro4Leu)" "" "0000276997" "00008352" "10" "124" "0" "124" "0" "c.124C>G" "r.(?)" "p.(Pro42Ala)" "" "0000276998" "00008352" "50" "1391" "0" "1391" "0" "c.1391G>A" "r.(?)" "p.(Arg464His)" "" "0000276999" "00008352" "10" "1581" "0" "1581" "0" "c.1581T>A" "r.(?)" "p.(Ile527=)" "" "0000277000" "00008352" "10" "1613" "9" "1613" "9" "c.1613+9T>C" "r.(=)" "p.(=)" "" "0000277001" "00008352" "90" "1660" "0" "1660" "0" "c.1660G>A" "r.(?)" "p.(Asp554Asn)" "" "0000277002" "00008352" "70" "1738" "0" "1738" "0" "c.1738G>A" "r.(?)" "p.(Gly580Ser)" "" "0000277003" "00008352" "90" "1738" "0" "1738" "0" "c.1738G>C" "r.(?)" "p.(Gly580Arg)" "" "0000277004" "00008352" "30" "1809" "14" "1809" "14" "c.1809+14T>C" "r.(=)" "p.(=)" "" "0000277005" "00008352" "10" "1833" "0" "1833" "0" "c.1833T>C" "r.(?)" "p.(Val611=)" "" "0000277006" "00008352" "50" "1852" "0" "1852" "0" "c.1852G>A" "r.(?)" "p.(Val618Ile)" "" "0000277007" "00008352" "90" "1904" "0" "1904" "0" "c.1904C>T" "r.(?)" "p.(Ser635Leu)" "" "0000277008" "00008352" "90" "1955" "0" "1955" "0" "c.1955G>C" "r.(?)" "p.(Gly652Ala)" "" "0000277009" "00008352" "50" "1963" "0" "1963" "0" "c.1963G>A" "r.(?)" "p.(Gly655Arg)" "" "0000277010" "00008352" "10" "2095" "-6" "2095" "-6" "c.2095-6C>T" "r.(=)" "p.(=)" "" "0000277011" "00008352" "10" "222" "5" "222" "5" "c.222+5C>T" "r.spl?" "p.?" "" "0000277012" "00008352" "90" "332" "0" "332" "0" "c.332C>T" "r.(?)" "p.(Ala111Val)" "" "0000277013" "00008352" "90" "547" "0" "547" "0" "c.547C>T" "r.(?)" "p.(Leu183Phe)" "" "0000277014" "00008352" "90" "880" "0" "880" "0" "c.880G>C" "r.(?)" "p.(Gly294Arg)" "" "0000277015" "00008352" "10" "93" "0" "93" "0" "c.93G>C" "r.(?)" "p.(Leu31=)" "" "0000280989" "00008352" "10" "124" "0" "124" "0" "c.124C>G" "r.(?)" "p.(Pro42Ala)" "" "0000280990" "00008352" "10" "2095" "-6" "2095" "-6" "c.2095-6C>T" "r.(=)" "p.(=)" "" "0000284581" "00008352" "10" "1031" "14" "1031" "14" "c.1031+14T>G" "r.(=)" "p.(=)" "" "0000288211" "00008352" "50" "410" "0" "410" "0" "c.410C>T" "r.(?)" "p.(Ala137Val)" "" "0000331499" "00008352" "50" "408" "0" "408" "0" "c.408A>T" "r.(?)" "p.(Gln136His)" "" "0000337664" "00008352" "10" "-205" "0" "-205" "0" "c.-205C>T" "r.(?)" "p.(=)" "" "0000337665" "00008352" "10" "222" "5" "222" "5" "c.222+5C>T" "r.spl?" "p.?" "" "0000337668" "00008352" "10" "1613" "9" "1613" "9" "c.1613+9T>C" "r.(=)" "p.(=)" "" "0000337669" "00008352" "10" "2095" "-6" "2095" "-6" "c.2095-6C>T" "r.(=)" "p.(=)" "" "0000339800" "00008352" "10" "93" "0" "93" "0" "c.93G>C" "r.(?)" "p.(Leu31=)" "" "0000339801" "00008352" "10" "1062" "0" "1062" "0" "c.1062T>C" "r.(?)" "p.(Phe354=)" "" "0000339802" "00008352" "10" "1833" "0" "1833" "0" "c.1833T>C" "r.(?)" "p.(Val611=)" "" "0000339803" "00008352" "10" "2145" "0" "2145" "0" "c.2145A>G" "r.(?)" "p.(Thr715=)" "" "0000348449" "00008352" "10" "124" "0" "124" "0" "c.124C>G" "r.(?)" "p.(Pro42Ala)" "" "0000348479" "00008352" "10" "11" "0" "11" "0" "c.11C>T" "r.(?)" "p.(Pro4Leu)" "" "0000349911" "00008352" "50" "401" "0" "401" "0" "c.401A>G" "r.(?)" "p.(Tyr134Cys)" "" "0000351089" "00008352" "50" "236" "0" "236" "0" "c.236G>A" "r.(?)" "p.(Arg79Gln)" "" "0000351090" "00008352" "50" "562" "0" "562" "0" "c.562G>A" "r.(?)" "p.(Val188Ile)" "" "0000436128" "00008352" "90" "893" "0" "893" "0" "c.893C>T" "r.(?)" "p.(Pro298Leu)" "8" "0000436129" "00008352" "90" "548" "0" "548" "0" "c.548T>C" "r.(?)" "p.(Leu183Pro)" "4" "0000436130" "00008352" "90" "548" "0" "548" "0" "c.548T>C" "r.(?)" "p.(Leu183Pro)" "4" "0000436131" "00008352" "90" "880" "0" "880" "0" "c.880G>C" "r.(?)" "p.(Gly294Arg)" "7" "0000436132" "00008352" "90" "880" "0" "880" "0" "c.880G>C" "r.(?)" "p.(Gly294Arg)" "7" "0000436133" "00008352" "90" "1000" "0" "1000" "0" "c.1000A>T" "r.(?)" "p.(Ile334Phe)" "8" "0000436134" "00008352" "90" "1415" "0" "1415" "0" "c.1415A>G" "r.(?)" "p.(His472Arg)" "11" "0000436135" "00008352" "90" "1660" "0" "1660" "0" "c.1660G>A" "r.(?)" "p.(Asp554Asn)" "13" "0000436136" "00008352" "90" "1738" "0" "1738" "0" "c.1738G>C" "r.(?)" "p.(Gly580Arg)" "14" "0000436137" "00008352" "90" "1904" "0" "1904" "0" "c.1904C>T" "r.(spl?)" "p.(Ser635Leu)" "16" "0000436138" "00008352" "90" "1955" "0" "1955" "0" "c.1955G>C" "r.(?)" "p.(Gly652Ala)" "16" "0000436139" "00008352" "90" "332" "0" "332" "0" "c.332C>T" "r.(?)" "p.(Ala111Val)" "3" "0000436140" "00008352" "90" "374" "0" "374" "0" "c.374A>G" "r.(?)" "p.(Glu125Gly)" "3" "0000436141" "00008352" "90" "374" "0" "374" "0" "c.374A>G" "r.(?)" "p.(Glu125Gly)" "3" "0000436142" "00008352" "10" "93" "0" "93" "0" "c.93G>C" "r.(?)" "p.(=)" "1" "0000436143" "00008352" "10" "124" "0" "124" "0" "c.124C>G" "r.(?)" "p.(Pro42Ala)" "1" "0000436144" "00008352" "10" "222" "5" "222" "5" "c.222+5C>T" "r.(?)" "p.(=)" "2i" "0000436145" "00008352" "10" "222" "94" "222" "96" "c.222+94_222+96del" "r.(?)" "p.(=)" "2i" "0000436146" "00008352" "10" "1032" "-23" "1032" "-23" "c.1032-23A>T" "r.(?)" "p.(=)" "8i" "0000436147" "00008352" "10" "1359" "97" "1359" "97" "c.1359+97A>G" "r.(?)" "p.(=)" "10i" "0000436148" "00008352" "10" "1716" "0" "1716" "0" "c.1716G>A" "r.(?)" "p.(=)" "14" "0000436149" "00008352" "10" "2094" "26" "2094" "26" "c.2094+26T>G" "r.(?)" "p.(=)" "16i" "0000436150" "00008352" "10" "2095" "-6" "2095" "-6" "c.2095-6C>T" "r.(?)" "p.(=)" "16i" "0000436151" "00008352" "10" "2212" "0" "2212" "0" "c.2212G>A" "r.(?)" "p.(Glu738Lys)" "17" "0000531809" "00008352" "10" "59" "0" "61" "0" "c.59_61del" "r.(?)" "p.(Leu20del)" "" "0000531810" "00008352" "50" "253" "0" "253" "0" "c.253A>G" "r.(?)" "p.(Lys85Glu)" "" "0000531811" "00008352" "50" "418" "0" "418" "0" "c.418A>G" "r.(?)" "p.(Ile140Val)" "" "0000531812" "00008352" "70" "598" "0" "598" "0" "c.598G>C" "r.(?)" "p.(Asp200His)" "" "0000531813" "00008352" "50" "787" "0" "787" "0" "c.787G>A" "r.(?)" "p.(Val263Ile)" "" "0000531814" "00008352" "10" "803" "0" "803" "0" "c.803C>T" "r.(?)" "p.(Thr268Ile)" "" "0000531815" "00008352" "70" "1705" "0" "1705" "0" "c.1705G>A" "r.(?)" "p.(Glu569Lys)" "" "0000595605" "00008352" "70" "1171" "0" "1171" "0" "c.1171C>T" "r.(?)" "p.(Arg391Cys)" "" "0000611040" "00008352" "30" "59" "0" "61" "0" "c.59_61del" "r.(?)" "p.(Leu20del)" "" "0000611041" "00008352" "30" "803" "0" "803" "0" "c.803C>T" "r.(?)" "p.(Thr268Ile)" "" "0000611042" "00008352" "30" "882" "-15" "882" "-15" "c.882-15T>G" "r.(=)" "p.(=)" "" "0000611043" "00008352" "50" "1715" "0" "1715" "0" "c.1715C>T" "r.(?)" "p.(Pro572Leu)" "" "0000611044" "00008352" "50" "1757" "0" "1757" "0" "c.1757A>G" "r.(?)" "p.(Tyr586Cys)" "" "0000611045" "00008352" "50" "1822" "0" "1822" "0" "c.1822C>T" "r.(?)" "p.(Pro608Ser)" "" "0000647127" "00008352" "50" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "" "0000652282" "00008352" "50" "3" "0" "3" "0" "c.3G>T" "r.(?)" "p.(Met1?)" "" "0000652283" "00008352" "30" "11" "0" "11" "0" "c.11C>T" "r.(?)" "p.(Pro4Leu)" "" "0000652284" "00008352" "30" "766" "0" "766" "0" "c.766G>C" "r.(?)" "p.(Asp256His)" "" "0000652285" "00008352" "30" "803" "0" "803" "0" "c.803C>T" "r.(?)" "p.(Thr268Ile)" "" "0000652286" "00008352" "30" "1700" "-45" "1700" "-45" "c.1700-45T>C" "r.(=)" "p.(=)" "" "0000655816" "00008352" "50" "44" "0" "44" "0" "c.44C>T" "r.(?)" "p.(Ala15Val)" "" "0000655817" "00008352" "50" "302" "0" "302" "0" "c.302G>A" "r.(?)" "p.(Arg101His)" "" "0000660237" "00008352" "90" "373" "0" "373" "0" "c.373G>A" "r.(?)" "p.(Glu125Lys)" "" "0000660238" "00008352" "50" "80" "0" "80" "0" "c.80G>C" "r.(?)" "p.(Arg27Pro)" "" "0000660239" "00008352" "70" "1528" "0" "1528" "0" "c.1528A>C" "r.(?)" "p.(Lys510Gln)" "" "0000660242" "00008352" "70" "1663" "0" "1663" "0" "c.1663A>G" "r.(?)" "p.(Met555Val)" "" "0000660248" "00008352" "90" "373" "0" "373" "0" "c.373G>A" "r.(?)" "p.(Glu125Lys)" "" "0000660268" "00008352" "70" "647" "0" "647" "0" "c.647A>G" "r.(?)" "p.(His216Arg)" "" "0000660271" "00008352" "70" "647" "0" "647" "0" "c.647A>G" "r.(?)" "p.(His216Arg)" "" "0000660272" "00008352" "70" "1904" "0" "1904" "0" "c.1904C>T" "r.(?)" "p.(Ser635Leu)" "" "0000660273" "00008352" "50" "1787" "0" "1787" "0" "c.1787G>A" "r.(?)" "p.(Arg596Gln)" "" "0000660274" "00008352" "70" "1904" "0" "1904" "0" "c.1904C>T" "r.(?)" "p.(Ser635Leu)" "" "0000660275" "00008352" "50" "1787" "0" "1787" "0" "c.1787G>A" "r.(?)" "p.(Arg596Gln)" "" "0000660276" "00008352" "70" "979" "0" "979" "0" "c.979G>A" "r.(?)" "p.(Gly327Arg)" "" "0000660277" "00008352" "90" "1415" "0" "1415" "0" "c.1415A>G" "r.(?)" "p.(His472Arg)" "" "0000660278" "00008352" "90" "1415" "0" "1415" "0" "c.1415A>G" "r.(?)" "p.(His472Arg)" "" "0000660317" "00008352" "70" "2065" "0" "2065" "0" "c.2065C>T" "r.(?)" "p.(Arg689Cys)" "" "0000664002" "00008352" "90" "1415" "0" "1415" "0" "c.1415A>G" "r.(?)" "p.(His472Arg)" "" "0000664060" "00008352" "70" "302" "0" "302" "0" "c.302G>A" "r.(?)" "p.(Arg101His)" "" "0000664062" "00008352" "70" "999" "0" "999" "0" "c.999G>C" "r.(?)" "p.(Glu333Asp)" "" "0000664063" "00008352" "70" "1528" "0" "1528" "0" "c.1528A>C" "r.(?)" "p.(Lys510Gln)" "" "0000664189" "00008352" "70" "647" "0" "647" "0" "c.647A>G" "r.(?)" "p.(His216Arg)" "" "0000678094" "00008352" "30" "803" "0" "803" "0" "c.803C>T" "r.(?)" "p.(Thr268Ile)" "" "0000678095" "00008352" "50" "983" "0" "983" "0" "c.983A>G" "r.(?)" "p.(Asn328Ser)" "" "0000678096" "00008352" "50" "1874" "0" "1874" "0" "c.1874A>G" "r.(?)" "p.(Gln625Arg)" "" "0000721424" "00008352" "30" "699" "0" "699" "0" "c.699C>T" "r.(?)" "p.(Val233=)" "" "0000721425" "00008352" "30" "787" "0" "787" "0" "c.787G>A" "r.(?)" "p.(Val263Ile)" "" "0000721426" "00008352" "50" "787" "0" "787" "0" "c.787G>A" "r.(?)" "p.(Val263Ile)" "" "0000721427" "00008352" "30" "803" "0" "803" "0" "c.803C>T" "r.(?)" "p.(Thr268Ile)" "" "0000721428" "00008352" "50" "1015" "0" "1015" "0" "c.1015G>A" "r.(?)" "p.(Gly339Arg)" "" "0000721429" "00008352" "50" "1754" "0" "1754" "0" "c.1754T>C" "r.(?)" "p.(Met585Thr)" "" "0000787566" "00008352" "50" "1855" "0" "1855" "0" "c.1855C>T" "r.(?)" "p.(Leu619Phe)" "15" "0000803128" "00008352" "30" "492" "0" "492" "0" "c.492C>G" "r.(?)" "p.(Thr164=)" "" "0000833083" "00008352" "70" "1421" "0" "1421" "0" "c.1421G>C" "r.(?)" "p.(Arg474Pro)" "" "0000833134" "00008352" "70" "262" "0" "262" "0" "c.262C>G" "r.(?)" "p.(Gln88Glu)" "" "0000833775" "00008352" "75" "794" "0" "794" "0" "c.794C>A" "r.(?)" "p.(Ser265Tyr)" "" "0000833776" "00008352" "75" "794" "0" "794" "0" "c.794C>A" "r.(?)" "p.(Ser265Tyr)" "" "0000851593" "00008352" "50" "236" "0" "236" "0" "c.236G>A" "r.(?)" "p.(Arg79Gln)" "" "0000851594" "00008352" "10" "747" "0" "747" "0" "c.747T>C" "r.(?)" "p.(Tyr249=)" "" "0000851595" "00008352" "10" "1761" "0" "1761" "0" "c.1761G>A" "r.(?)" "p.(Thr587=)" "" "0000851596" "00008352" "10" "1904" "-18" "1904" "-18" "c.1904-18T>C" "r.(=)" "p.(=)" "" "0000887854" "00008352" "30" "59" "0" "61" "0" "c.59_61del" "r.(?)" "p.(Leu20del)" "" "0000887855" "00008352" "10" "1163" "0" "1163" "0" "c.1163G>A" "r.(?)" "p.(Arg388Gln)" "" "0000887856" "00008352" "50" "1754" "0" "1754" "0" "c.1754T>C" "r.(?)" "p.(Met585Thr)" "" "0000887857" "00008352" "30" "1809" "14" "1809" "14" "c.1809+14T>C" "r.(=)" "p.(=)" "" "0000909335" "00008352" "90" "794" "0" "794" "0" "c.794C>A" "r.(?)" "p.(Ser265Tyr)" "7" "0000924708" "00008352" "30" "1163" "0" "1163" "0" "c.1163G>A" "r.(?)" "p.(Arg388Gln)" "" "0000929334" "00008352" "30" "1263" "0" "1263" "0" "c.1263A>C" "r.(?)" "p.(=)" "" "0000929335" "00008352" "10" "1962" "0" "1962" "0" "c.1962C>T" "r.(?)" "p.(=)" "" "0000964561" "00008352" "30" "1904" "-18" "1904" "-18" "c.1904-18T>C" "r.(=)" "p.(=)" "" "0000996450" "00008352" "30" "253" "0" "253" "0" "c.253A>G" "r.(?)" "p.(Lys85Glu)" "" "0000996451" "00008352" "50" "766" "0" "766" "0" "c.766G>C" "r.(?)" "p.(Asp256His)" "" "0000996452" "00008352" "90" "1000" "0" "1000" "0" "c.1000A>T" "r.(?)" "p.(Ile334Phe)" "" "0000996453" "00008352" "50" "1697" "0" "1697" "0" "c.1697A>C" "r.(?)" "p.(Tyr566Ser)" "" "0000996454" "00008352" "50" "2044" "0" "2044" "0" "c.2044C>A" "r.(?)" "p.(His682Asn)" "" "0001014343" "00008352" "30" "-19" "0" "-19" "0" "c.-19A>C" "r.(?)" "p.(=)" "" "0001036338" "00008352" "30" "1163" "0" "1163" "0" "c.1163G>A" "r.(?)" "p.(Arg388Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 78 "{{screeningid}}" "{{variantid}}" "0000035974" "0000063099" "0000035975" "0000063100" "0000035976" "0000063101" "0000035977" "0000063102" "0000035978" "0000063103" "0000035979" "0000063104" "0000035980" "0000063105" "0000035981" "0000063106" "0000035982" "0000063107" "0000035983" "0000063108" "0000035984" "0000063109" "0000035985" "0000063110" "0000035986" "0000063111" "0000035987" "0000063112" "0000035988" "0000063113" "0000035989" "0000063114" "0000035990" "0000063115" "0000035991" "0000063116" "0000035992" "0000063117" "0000035993" "0000063118" "0000050327" "0000079307" "0000206520" "0000436128" "0000206521" "0000436129" "0000206522" "0000436130" "0000206523" "0000436131" "0000206524" "0000436132" "0000206525" "0000436133" "0000206526" "0000436134" "0000206527" "0000436135" "0000206528" "0000436136" "0000206529" "0000436137" "0000206530" "0000436138" "0000206531" "0000436139" "0000206532" "0000436140" "0000206533" "0000436141" "0000206534" "0000436142" "0000206535" "0000436143" "0000206536" "0000436144" "0000206537" "0000436145" "0000206538" "0000436146" "0000206539" "0000436147" "0000206540" "0000436148" "0000206541" "0000436149" "0000206542" "0000436150" "0000206543" "0000436151" "0000265022" "0000595605" "0000290459" "0000647127" "0000295593" "0000652282" "0000295594" "0000652283" "0000295595" "0000652284" "0000295596" "0000652285" "0000295597" "0000652286" "0000297632" "0000660237" "0000297633" "0000660238" "0000297634" "0000660239" "0000297636" "0000660242" "0000297640" "0000660248" "0000297658" "0000660268" "0000297663" "0000660271" "0000297664" "0000660272" "0000297664" "0000660273" "0000297665" "0000660274" "0000297666" "0000660275" "0000297667" "0000660276" "0000297668" "0000660277" "0000297669" "0000660278" "0000297708" "0000660317" "0000301107" "0000664002" "0000301165" "0000664060" "0000301167" "0000664062" "0000301168" "0000664063" "0000301267" "0000664189" "0000375861" "0000787566" "0000400276" "0000833083" "0000400327" "0000833134" "0000400782" "0000833775" "0000400783" "0000833776" "0000429724" "0000909335"