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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Cerebellar Diseases (D002526)
Parent Node: Cerebellar Hypoplasia (C562568)
Parent Node: Diseases (C)
Parent Node: Microcephaly (D008831)
Parent Node: Seizures (D012640)
..Starting node ..MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY (OMIM:615760)
Child Nodes:
Sister Nodes:
..Adams Nance syndrome (C538224)
..Alcohol Withdrawal Seizures (D020270)
..Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism (C563370)
..ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES (OMIM:615553)
..Baraitser Rodeck Garner syndrome (C537906)
..Cerebroretinal Microangiopathy with Calcifications and Cysts (C567401)
..Chromosome 15q13.3 Microdeletion Syndrome (C567439)
..Convulsive Disorder, Familial, with Prenatal or Early Onset (C565678)
..Copper deficiency, familial benign (C535468)
..Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly (C563840)
..DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617171)
..Dysmyelination With Jaundice (C565610)
..Glycosylphosphatidylinositol deficiency (C537277)
..Hyper-Beta-Alaninemia (C562684)
..HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES (OMIM:614462) L: 00479;
..Hyperleucine-Isoleucinemia (C562674)
..HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY (OMIM:614300)
..Hyperphosphatemia, Polyuria, and Seizures (C565494)
..HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION (OMIM:616418)
..Hypoparathyroidism-retardation-dysmorphism syndrome (C537157)
..Hypotonia, Seizures, And Precocious Puberty (C567566)
..Infantile convulsions and paroxysmal choreoathetosis, familial (C535522)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES (OMIM:613970)
..Mental retardation, keratoconus, febrile seizures, and sinoatrial block (C537452)
..Mental retardation, X-linked, syndromic 5 (C535773)
..Methionine Malabsorption Syndrome (C562682)
..Microcephaly seizures genital hypoplasia (C537540)
..Microcephaly seizures mental retardation heart disorders (C537544)
..Microcephaly sparse hair mental retardation seizures (C537545)
..MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
..MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY (OMIM:615760)
..MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
..MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES (OMIM:614833)
..Muller Barth Menger syndrome (C537370)
..MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
..MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
..MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
..NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE (OMIM:617268)
..OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES (OMIM:616732)
..PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS (OMIM:600176)
..Partington X-linked mental retardation syndrome (C536300)
..Perniola Krajewska Carnevale syndrome (C536660)
..Phosphoglycerate Dehydrogenase Deficiency (C566618)
..Phosphoserine Aminotransferase Deficiency (C567032)
..Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency (C566449)
..Qazi Markouizos syndrome (C536259)
..SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME (OMIM:616632)
..Seizures, Febrile (D003294) 21
..SeSAME syndrome (C557674)
..Status Epilepticus (D013226) 1
..Tranebjaerg Svejgaard syndrome (C536978)
..WHITE-SUTTON SYNDROME (OMIM:616364)
..X-linked mental retardation Gustavson type (C536759)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

7945

Name:

MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY

Definition:

Alternative IDs:

ParentIDs:

MESH:C562568|MESH:D002526|MESH:D008831|MESH:D012640

TreeNumbers:

C05.660.207.620/615760 |C10.228.140.252/615760 |C10.500.507.400.500/615760 |C10.500/C562568/615760 |C10.597.742/615760 |C16.131.621.207.620/615760 |C16.131.666.507.400.500/615760 |C16.131.666/C562568/615760 |C23.888.592.742/615760 |F03.625.421/C562568/615760

Synonyms:

MSCCA

Slim Mappings:

Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms

Reference:

MedGen: 615760
MeSH: 615760
OMIM: 615760;
MSeqDR :
Genes: QARS;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0006855	Cerebellar vermis atrophy
3	HP:0002059	Cerebral atrophy
4	HP:0003429	CNS hypomyelination
5	HP:0009879	Cortical gyral simplification	HP:0040283
6	HP:0000286	Epicanthus
7	HP:0001290	Generalized hypotonia
8	HP:0001263	Global developmental delay NAMDC: Mental retardation
9	HP:0001263	Global developmental delay NAMDC: Delayed development (evidence of at least one of A through F)
10	HP:0001347	Hyperreflexia NAMDC: Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)	HP:0040283
11	HP:0002079	Hypoplasia of the corpus callosum
12	HP:0000601	Hypotelorism
13	HP:0000369	Low-set ears
14	HP:0000252	Microcephaly
15	HP:0000341	Narrow forehead
16	HP:0000358	Posteriorly rotated ears
17	HP:0003676	Progressive
18	HP:0000253	Progressive microcephaly
19	HP:0000340	Sloping forehead
20	HP:0002133	Status epilepticus
21	HP:0002119	Ventriculomegaly

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NC_000003.11:g.(?_45435946)_(49137751_?)dup	5859	QARS1	Uncertain significance	-1	RCV003116297;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	45435946	49137751		-
NM_005051.3(QARS1):c.2325G>A (p.Val775=)	5859	QARS1	Likely benign	-1	RCV002653275;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49133465	49133465		-
NM_005051.3(QARS1):c.2320A>G (p.Lys774Glu)	5859	QARS1	Uncertain significance	373300144	RCV002592584;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49133470	49133470	49133470	-
NM_005051.3(QARS1):c.2317G>A (p.Gly773Arg)	5859	QARS1	Uncertain significance	762570876	RCV001221774\|RCV002272418;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MedGen:CN517202	3	49133473	49133473	3:g.49133473C>T	-
NM_005051.3(QARS1):c.2313C>T (p.Asp771=)	5859	QARS1	Likely benign	-1	RCV002663625;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49133477	49133477		-
NM_005051.3(QARS1):c.2312A>C (p.Asp771Ala)	5859	QARS1	Uncertain significance	-1	RCV003041920;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49133478	49133478	NC_000003.11:g.49133478T>G	-
NM_005051.3(QARS1):c.2311G>A (p.Asp771Asn)	5859	QARS1	Uncertain significance	754648501	RCV000694182;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49133479	49133479	NC_000003.11:g.49133479C>T	-	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.2293del (p.Thr765fs)	5859	QARS1	Uncertain significance	2107087591	RCV002037202\|RCV003132547;	N	MedGen:C3661900\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49133497	49133497	49133496	-
NM_005051.3(QARS1):c.2291G>A (p.Arg764Gln)	5859	QARS1	Uncertain significance	1291965738	RCV001365918;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49133499	49133499	49133499	-
NM_005051.3(QARS1):c.2290C>T (p.Arg764Ter)	5859	QARS1	Uncertain significance	746327492	RCV001299499;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49133500	49133500	49133500	-
NM_005051.3(QARS1):c.2278-21_2278-19dup	5859	QARS1	Likely benign	1166032765	RCV002552358;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49133530	49133531	49133530	-
NM_005051.3(QARS1):c.2277+18C>A	5859	QARS1	Likely benign	-1	RCV002928648;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135407	49135407	NC_000003.11:g.49135407G>T	-
NM_005051.3(QARS1):c.2277+16_2277+17delinsAC	5859	QARS1	Uncertain significance	-1	RCV002857985;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135408	49135409	NC_000003.11:g.49135408_49135409delinsGT	-
NM_005051.3(QARS1):c.2277+9C>T	5859	QARS1	Likely benign	752322988	RCV003025463;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135416	49135416	49135416	-
NM_005051.3(QARS1):c.2277+3G>A	5859	QARS1	Uncertain significance	2042412962	RCV001341920;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135422	49135422	49135422	-
NM_005051.3(QARS1):c.2277+1G>C	5859	QARS1	Uncertain significance	1193194264	RCV002608027;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135424	49135424	49135424	-
NM_005051.3(QARS1):c.2277G>T (p.Lys759Asn)	5859	QARS1	Uncertain significance	-1	RCV003113072;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135425	49135425	NC_000003.11:g.49135425C>A	-
NM_005051.3(QARS1):c.2270A>G (p.Gln757Arg)	5859	QARS1	Uncertain significance	1426097729	RCV002545715;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135432	49135432	49135432	-
NM_005051.3(QARS1):c.2265C>G (p.Ser755Arg)	5859	QARS1	Uncertain significance	2042413109	RCV002548930;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135437	49135437	49135437	-
NM_005051.3(QARS1):c.2261A>G (p.Asp754Gly)	5859	QARS1	Uncertain significance	142480574	RCV000655201\|RCV001584513;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MedGen:CN517202	3	49135441	49135441	3:g.49135441T>C	ClinGen:CA2391464	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.2253G>T (p.Val751=)	5859	QARS1	Likely benign	751751662	RCV001411721;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135449	49135449	3:g.49135449C>A	-
NM_005051.3(QARS1):c.2251G>A (p.Val751Met)	5859	QARS1	Uncertain significance	781617872	RCV001070071;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135451	49135451	3:g.49135451C>T	-
NM_005051.3(QARS1):c.2250C>T (p.Ser750=)	5859	QARS1	Likely benign	748351582	RCV001416956;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135452	49135452	49135452	-
NM_005051.3(QARS1):c.2249C>T (p.Ser750Phe)	5859	QARS1	Uncertain significance	1293778465	RCV001372701;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135453	49135453	49135453	-
NM_005051.3(QARS1):c.2234G>A (p.Arg745His)	5859	QARS1	Uncertain significance	770019480	RCV001761409\|RCV002540459\|RCV002540458;	N	MedGen:C3661900\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MeSH:D030342,MedGen:C0950123	3	49135468	49135468	49135468	-
NM_005051.3(QARS1):c.2226G>T (p.Gln742His)	5859	QARS1	Uncertain significance	370685207	RCV002545439;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135476	49135476	49135476	-
NM_005051.3(QARS1):c.2223C>G (p.Phe741Leu)	5859	QARS1	Uncertain significance	1282040984	RCV002563466;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135479	49135479	49135479	-
NM_005051.3(QARS1):c.2220G>A (p.Lys740=)	5859	QARS1	Likely benign	777452461	RCV001470494;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135482	49135482	49135482	-
NM_005051.3(QARS1):c.2220G>C (p.Lys740Asn)	5859	QARS1	Uncertain significance	-1	RCV003022185;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135482	49135482	NC_000003.11:g.49135482C>G	-
NM_005051.3(QARS1):c.2218A>C (p.Lys740Gln)	5859	QARS1	Uncertain significance	925254000	RCV000655193;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135484	49135484	3:g.49135484T>G	ClinGen:CA74472173	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.2215G>A (p.Asp739Asn)	5859	QARS1	Uncertain significance	749055007	RCV001062871\|RCV001759824;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MedGen:CN517202	3	49135487	49135487	3:g.49135487C>T	-
NM_005051.3(QARS1):c.2210C>T (p.Pro737Leu)	5859	QARS1	Uncertain significance	772699618	RCV000468826\|RCV003314596\|RCV003352874;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	3	49135492	49135492	NC_000003.11:g.49135492G>A	ClinGen:CA2391476	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.2210C>A (p.Pro737His)	5859	QARS1	Uncertain significance	772699618	RCV001038101;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135492	49135492	3:g.49135492G>T	-
NM_005051.3(QARS1):c.2209C>A (p.Pro737Thr)	5859	QARS1	Uncertain significance	527864842	RCV001325886;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135493	49135493	49135493	-
NM_005051.3(QARS1):c.2193T>C (p.Ser731=)	5859	QARS1	Likely benign	1449000257	RCV001470673;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135509	49135509	49135509	-
NM_005051.3(QARS1):c.2184G>C (p.Val728=)	5859	QARS1	Likely benign	1377061002	RCV001449291;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135518	49135518	3:g.49135518C>G	-
NM_005051.3(QARS1):c.2174C>T (p.Ala725Val)	5859	QARS1	Uncertain significance	913919560	RCV000655192;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135528	49135528	3:g.49135528G>A	ClinGen:CA74472203	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.2173G>C (p.Ala725Pro)	5859	QARS1	Uncertain significance	2042414825	RCV001216299;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135529	49135529	3:g.49135529C>G	-
NM_005051.3(QARS1):c.2172T>C (p.Asp724=)	5859	QARS1	Likely benign	200663794	RCV000867938\|RCV002521741;	N	MedGen:C3661900\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135530	49135530	3:g.49135530A>G	ClinGen:CA2391484	CN169374 not specified;
NM_005051.3(QARS1):c.2170G>C (p.Asp724His)	5859	QARS1	Uncertain significance	2042414914	RCV001053388;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135532	49135532	3:g.49135532C>G	-
NM_005051.3(QARS1):c.2167G>C (p.Val723Leu)	5859	QARS1	Uncertain significance	-1	RCV002811038;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135535	49135535	NC_000003.11:g.49135535C>G	-
NM_005051.3(QARS1):c.2166G>T (p.Val722=)	5859	QARS1	Likely benign	752094317	RCV002552989;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135536	49135536	49135536	-
NM_005051.3(QARS1):c.2164G>A (p.Val722Met)	5859	QARS1	Uncertain significance	781454677	RCV000687001;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135538	49135538	NC_000003.11:g.49135538C>T	-	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.2163C>T (p.His721=)	5859	QARS1	Likely benign	752777280	RCV003015288;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135539	49135539	49135539	-
NM_005051.3(QARS1):c.2154A>G (p.Ala718=)	5859	QARS1	Likely benign	-1	RCV003086061;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135548	49135548		-
NM_005051.3(QARS1):c.2153C>T (p.Ala718Val)	5859	QARS1	Uncertain significance	1332410993	RCV001063267;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135549	49135549	3:g.49135549G>A	-
NM_005051.3(QARS1):c.2152G>C (p.Ala718Pro)	5859	QARS1	Uncertain significance	2042415174	RCV001071304;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135550	49135550	3:g.49135550C>G	-
NM_005051.3(QARS1):c.2152-7C>T	5859	QARS1	Likely benign	1293403830	RCV001498968;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135557	49135557	49135557	-
NM_005051.3(QARS1):c.2152-10C>T	5859	QARS1	Likely benign	749104266	RCV003089029;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135560	49135560	49135560	-
NM_005051.3(QARS1):c.2152-11C>G	5859	QARS1	Benign/Likely benign	373696203	RCV001698161\|RCV002521752;	N	MedGen:C3661900\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135561	49135561	3:g.49135561G>C	ClinGen:CA2391492	CN169374 not specified;
NM_005051.3(QARS1):c.2152-12C>G	5859	QARS1	Likely benign	2107095116	RCV002553023;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135562	49135562	49135562	-
NM_005051.3(QARS1):c.2152-19del	5859	QARS1	Likely benign	2107095132	RCV002551317;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135569	49135569	49135568	-
NM_005051.3(QARS1):c.2152-20C>A	5859	QARS1	Likely benign	2107095137	RCV002562324;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135570	49135570	49135570	-
NM_005051.3(QARS1):c.2151+17_2151+18del	5859	QARS1	Likely benign	-1	RCV002662730;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135607	49135608	NC_000003.11:g.49135607_49135608del	-
NM_005051.3(QARS1):c.2151+13G>C	5859	QARS1	Likely benign	1465310490	RCV000613252\|RCV002532779;	N	MedGen:CN169374\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135612	49135612	3:g.49135612C>G	ClinGen:CA433630122	CN169374 not specified;
NM_005051.3(QARS1):c.2151+13G>A	5859	QARS1	Likely benign	1465310490	RCV003025389;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135612	49135612	49135612	-
NM_005051.3(QARS1):c.2151+12A>G	5859	QARS1	Likely benign	-1	RCV003067043;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135613	49135613	NC_000003.11:g.49135613T>C	-
NM_005051.3(QARS1):c.2151+11G>T	5859	QARS1	Likely benign	774818694	RCV000442380\|RCV002522421;	N	MedGen:CN169374\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135614	49135614	3:g.49135614C>A	ClinGen:CA2391505	CN169374 not specified;
NM_005051.3(QARS1):c.2151+8C>T	5859	QARS1	Likely benign	-1	RCV002726433;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135617	49135617	NC_000003.11:g.49135617G>A	-
NM_005051.3(QARS1):c.2149C>G (p.Leu717Val)	5859	QARS1	Uncertain significance	760143907	RCV001343634;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135627	49135627	49135627	-
NM_005051.3(QARS1):c.2142C>A (p.Asp714Glu)	5859	QARS1	Uncertain significance	-1	RCV002801307;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135634	49135634	NC_000003.11:g.49135634G>T	-
NM_005051.3(QARS1):c.2136A>G (p.Leu712=)	5859	QARS1	Likely benign	-1	RCV002907732;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135640	49135640		-
NM_005051.3(QARS1):c.2130A>C (p.Gly710=)	5859	QARS1	Likely benign	-1	RCV003048880;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135646	49135646		-
NM_005051.3(QARS1):c.2123C>T (p.Pro708Leu)	5859	QARS1	Conflicting interpretations of pathogenicity	142327602	RCV000531286\|RCV001406324\|RCV002527955;	N	MedGen:C3661900\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MeSH:D030342,MedGen:C0950123	3	49135653	49135653	NC_000003.11:g.49135653G>A	ClinGen:CA2391512	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.2122C>G (p.Pro708Ala)	5859	QARS1	Uncertain significance	778699748	RCV002555693;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135654	49135654	49135654	-
NM_005051.3(QARS1):c.2116G>A (p.Glu706Lys)	5859	QARS1	Uncertain significance	-1	RCV003059140;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135660	49135660	NC_000003.11:g.49135660C>T	-
NM_005051.3(QARS1):c.2114C>A (p.Thr705Asn)	5859	QARS1	Uncertain significance	-1	RCV002806975;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135662	49135662	NC_000003.11:g.49135662G>T	-
NM_005051.3(QARS1):c.2110C>G (p.Pro704Ala)	5859	QARS1	Uncertain significance	527504481	RCV001321053;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135666	49135666	49135666	-
NM_005051.3(QARS1):c.2104G>A (p.Glu702Lys)	5859	QARS1	Uncertain significance	2107095526	RCV002554232;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135672	49135672	49135672	-
NM_005051.3(QARS1):c.2103T>C (p.Pro701=)	5859	QARS1	Likely benign	-1	RCV003040479;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135673	49135673		-
NM_005051.3(QARS1):c.2097G>A (p.Lys699=)	5859	QARS1	Likely benign	2107095560	RCV001493264;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135679	49135679	49135679	-
NM_005051.3(QARS1):c.2093A>C (p.His698Pro)	5859	QARS1	Uncertain significance	2042417727	RCV001228856;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135683	49135683	3:g.49135683T>G	-
NM_005051.3(QARS1):c.2092C>T (p.His698Tyr)	5859	QARS1	Uncertain significance	-1	RCV003024661;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135684	49135684	NC_000003.11:g.49135684G>A	-
NM_005051.3(QARS1):c.2087T>G (p.Phe696Cys)	5859	QARS1	Uncertain significance	-1	RCV003044155;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135689	49135689	NC_000003.11:g.49135689A>C	-
NM_005051.3(QARS1):c.2085-2A>G	5859	QARS1	Likely pathogenic	-1	RCV002676620;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135693	49135693	NC_000003.11:g.49135693T>C	-
NM_005051.3(QARS1):c.2085-3C>T	5859	QARS1	Uncertain significance	1024765171	RCV000655190\|RCV002534226;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MeSH:D030342,MedGen:C0950123	3	49135694	49135694	NC_000003.11:g.49135694G>A	ClinGen:CA74472297	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.2085-3C>A	5859	QARS1	Likely pathogenic	1024765171	RCV000785086;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135694	49135694	3:g.49135694G>T	-
NM_005051.3(QARS1):c.2085-6C>T	5859	QARS1	Likely benign	-1	RCV003036320;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135697	49135697	NC_000003.11:g.49135697G>A	-
NM_005051.3(QARS1):c.2085-12C>G	5859	QARS1	Uncertain significance	549153964	RCV002553479;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135703	49135703	49135703	-
NM_005051.3(QARS1):c.2085-13A>T	5859	QARS1	Likely benign	887349442	RCV003025398;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135704	49135704	49135704	-
NM_005051.3(QARS1):c.2085-14C>G	5859	QARS1	Likely benign	1280267884	RCV003070641;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135705	49135705	49135705	-
NM_005051.3(QARS1):c.2085-18C>T	5859	QARS1	Likely benign	1005774254	RCV003061764;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135709	49135709	49135709	-
NM_005051.3(QARS1):c.2084+19G>A	5859	QARS1	Uncertain significance	-1	RCV003079875;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135767	49135767	NC_000003.11:g.49135767C>T	-
NM_005051.3(QARS1):c.2084+2_2084+3del	5859	QARS1	Likely pathogenic	2107095933	RCV002551190;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135783	49135784	49135782	-
NM_005051.3(QARS1):c.2084+1G>T	5859	QARS1	Likely pathogenic	-1	RCV003026456;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135785	49135785	NC_000003.11:g.49135785C>A	-
NM_005051.3(QARS1):c.2083C>G (p.Leu695Val)	5859	QARS1	Uncertain significance	376482152	RCV002592676\|RCV003170457;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MeSH:D030342,MedGen:C0950123	3	49135787	49135787	49135787	-
NM_005051.3(QARS1):c.2081G>A (p.Arg694Gln)	5859	QARS1	Uncertain significance	772994973	RCV002552318;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135789	49135789	49135789	-
NM_005051.3(QARS1):c.2080C>T (p.Arg694Ter)	5859	QARS1	Pathogenic	746293241	RCV001380568;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135790	49135790	49135790	-
NM_005051.3(QARS1):c.2075A>G (p.Tyr692Cys)	5859	QARS1	Uncertain significance	557972227	RCV001047364\|RCV001759771;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MedGen:C3661900	3	49135795	49135795	3:g.49135795T>C	-
NM_005051.3(QARS1):c.2073C>T (p.Leu691=)	5859	QARS1	Likely benign	138588649	RCV001429284;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135797	49135797	49135797	-
NM_005051.3(QARS1):c.2064G>A (p.Glu688=)	5859	QARS1	Benign/Likely benign	144316335	RCV000470942\|RCV001512391;	N	MedGen:C3661900\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135806	49135806	3:g.49135806C>T	ClinGen:CA2391547	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.2052T>A (p.Pro684=)	5859	QARS1	Likely benign	-1	RCV002861870;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135818	49135818		-
NM_005051.3(QARS1):c.2046A>C (p.Ser682=)	5859	QARS1	Likely benign	750619032	RCV001461649;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135824	49135824	49135824	-
NM_005051.3(QARS1):c.2031T>C (p.Phe677=)	5859	QARS1	Likely benign	1477080186	RCV001491908;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135839	49135839	49135839	-
NM_005051.3(QARS1):c.2028C>T (p.Ala676=)	5859	QARS1	Likely benign	762780883	RCV001495997;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135842	49135842	49135842	-
NM_005051.3(QARS1):c.2000G>A (p.Arg667Gln)	5859	QARS1	Uncertain significance	1037325022	RCV001062626;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135870	49135870	3:g.49135870C>T	-
NM_005051.3(QARS1):c.1999C>T (p.Arg667Trp)	5859	QARS1	Uncertain significance	370587517	RCV000555248\|RCV003437289;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MedGen:C3661900	3	49135871	49135871	3:g.49135871G>A	ClinGen:CA2391554	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.1979G>C (p.Ser660Thr)	5859	QARS1	Uncertain significance	755672487	RCV001065856;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135891	49135891	3:g.49135891C>G	-
NM_005051.3(QARS1):c.1978_1979del (p.Leu661fs)	5859	QARS1	Pathogenic	1217013234	RCV002569143;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135891	49135892	49135890	-
NM_005051.3(QARS1):c.1978A>T (p.Ser660Cys)	5859	QARS1	Uncertain significance	2042421299	RCV001215309;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135892	49135892	3:g.49135892T>A	-
NM_005051.3(QARS1):c.1972G>C (p.Val658Leu)	5859	QARS1	Uncertain significance	748978904	RCV000655188\|RCV002534225;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MeSH:D030342,MedGen:C0950123	3	49135898	49135898	3:g.49135898C>G	ClinGen:CA2391559	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.1967G>C (p.Gly656Ala)	5859	QARS1	Uncertain significance	1298749529	RCV002552214;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135903	49135903	49135903	-
NM_005051.3(QARS1):c.1958G>T (p.Gly653Val)	5859	QARS1	Uncertain significance	770657741	RCV001346642;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135912	49135912	49135912	-
NM_005051.3(QARS1):c.1957-5T>G	5859	QARS1	Uncertain significance	747269470	RCV002560497;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135918	49135918	49135918	-
NM_005051.3(QARS1):c.1957-14dup	5859	QARS1	Benign	1553751493	RCV001515212;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135921	49135922	NC_000003.11:g.49135927dup	ClinGen:CA16611404	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.1957-9C>T	5859	QARS1	Likely benign	367776807	RCV000461634\|RCV001450565;	N	MedGen:C3661900\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135922	49135922	3:g.49135922G>A	ClinGen:CA2391563	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.1957-9C>A	5859	QARS1	Likely benign	367776807	RCV003070664;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135922	49135922	49135922	-
NM_005051.3(QARS1):c.1957-9C>G	5859	QARS1	Likely benign	-1	RCV003093618;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135922	49135922	NC_000003.11:g.49135922G>C	-
NM_005051.3(QARS1):c.1957-10C>A	5859	QARS1	Likely benign	367835872	RCV001584002\|RCV002571173;	N	MedGen:C3661900\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135923	49135923	49135923	-
NM_005051.3(QARS1):c.1957-11C>A	5859	QARS1	Likely benign	-1	RCV002910122;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135924	49135924	NC_000003.11:g.49135924G>T	-
NM_005051.3(QARS1):c.1957-13C>T	5859	QARS1	Likely benign	-1	RCV002932804;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135926	49135926	NC_000003.11:g.49135926G>A	-
NM_005051.3(QARS1):c.1957-14C>T	5859	QARS1	Likely benign	751375938	RCV000600632\|RCV003105998;	N	MedGen:CN169374\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135927	49135927	3:g.49135927G>A	ClinGen:CA2391570	CN169374 not specified;
NM_005051.3(QARS1):c.1957-18C>T	5859	QARS1	Likely benign	1376364091	RCV003089071;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135931	49135931	49135931	-
NM_005051.3(QARS1):c.1957-19C>G	5859	QARS1	Benign	112579679	RCV000426736\|RCV001520869;	N	MedGen:CN169374\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135932	49135932	3:g.49135932G>C	ClinGen:CA2391571	CN169374 not specified;
NM_005051.3(QARS1):c.1957-22_1957-20del	5859	QARS1	Likely benign	753102798	RCV000480606\|RCV002526605;	N	MedGen:CN169374\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135933	49135935	NC_000003.11:g.49135934GCA[1]	ClinGen:CA2391572	CN169374 not specified;
NM_005051.3(QARS1):c.1957-20T>C	5859	QARS1	Likely benign	-1	RCV002858699;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135933	49135933	NC_000003.11:g.49135933A>G	-
NM_005051.3(QARS1):c.1957-48G>C	5859	QARS1	Benign	13064784	RCV001541204\|RCV001796599;	N	MedGen:C3661900\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49135961	49135961	49135961	-
NM_005051.3(QARS1):c.1954A>G (p.Lys652Glu)	5859	QARS1	Uncertain significance	-1	RCV002819008;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136035	49136035	NC_000003.11:g.49136035T>C	-
NM_005051.3(QARS1):c.1946A>G (p.His649Arg)	5859	QARS1	Uncertain significance	2107096780	RCV002571311;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136043	49136043	49136043	-
NM_005051.3(QARS1):c.1930G>T (p.Val644Phe)	5859	QARS1	Uncertain significance	775375268	RCV002562920\|RCV002562921;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MeSH:D030342,MedGen:C0950123	3	49136059	49136059	49136059	-
NM_005051.3(QARS1):c.1930G>A (p.Val644Ile)	5859	QARS1	Uncertain significance	-1	RCV002705933;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136059	49136059	NC_000003.11:g.49136059C>T	-
NM_005051.3(QARS1):c.1929C>T (p.Tyr643=)	5859	QARS1	Likely benign	760702138	RCV001482744;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136060	49136060	49136060	-
NM_005051.3(QARS1):c.1928A>G (p.Tyr643Cys)	5859	QARS1	Uncertain significance	1396216642	RCV001040121;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136061	49136061	3:g.49136061T>C	-
NM_005051.3(QARS1):c.1925G>C (p.Gly642Ala)	5859	QARS1	Uncertain significance	2042423880	RCV001366560;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136064	49136064	49136064	-
NM_005051.3(QARS1):c.1923A>G (p.Thr641=)	5859	QARS1	Likely benign	764054134	RCV000600935\|RCV002528579;	N	MedGen:CN169374\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136066	49136066	3:g.49136066T>C	ClinGen:CA2391594	CN169374 not specified;
NM_005051.3(QARS1):c.1886G>T (p.Arg629Leu)	5859	QARS1	Uncertain significance	-1	RCV002761498;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136103	49136103	NC_000003.11:g.49136103C>A	-
NM_005051.3(QARS1):c.1885C>T (p.Arg629Cys)	5859	QARS1	Uncertain significance	979330776	RCV001241122;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136104	49136104	3:g.49136104G>A	-
NM_005051.3(QARS1):c.1884G>A (p.Lys628=)	5859	QARS1	Likely benign	764987448	RCV001505751;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136105	49136105	49136105	-
NM_005051.3(QARS1):c.1876G>C (p.Gly626Arg)	5859	QARS1	Uncertain significance	758025209	RCV002560488;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136113	49136113	49136113	-
NM_005051.3(QARS1):c.1872G>T (p.Glu624Asp)	5859	QARS1	Uncertain significance	537960607	RCV002642022;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136117	49136117	49136117	-
NM_005051.3(QARS1):c.1870G>C (p.Glu624Gln)	5859	QARS1	Benign/Likely benign	544950843	RCV000868287\|RCV001522147;	N	MedGen:C3661900\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136119	49136119	3:g.49136119C>G	-
NM_005051.3(QARS1):c.1864-3T>G	5859	QARS1	Uncertain significance	-1	RCV003009638;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136128	49136128	NC_000003.11:g.49136128A>C	-
NM_005051.3(QARS1):c.1864-5T>C	5859	QARS1	Likely benign	-1	RCV002881960;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136130	49136130	NC_000003.11:g.49136130A>G	-
NM_005051.3(QARS1):c.1864-7T>G	5859	QARS1	Uncertain significance	756620094	RCV002562775;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136132	49136132	49136132	-
NM_005051.3(QARS1):c.1864-9T>C	5859	QARS1	Likely benign	-1	RCV002716705;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136134	49136134	NC_000003.11:g.49136134A>G	-
NM_005051.3(QARS1):c.1864-10del	5859	QARS1	Likely benign	-1	RCV002725337;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136135	49136135	NC_000003.11:g.49136136del	-
NM_005051.3(QARS1):c.1864-12T>A	5859	QARS1	Likely benign	2042425058	RCV002551311;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136137	49136137	49136137	-
NM_005051.3(QARS1):c.1864-15A>G	5859	QARS1	Likely benign	374530633	RCV000428542\|RCV002526337;	N	MedGen:CN169374\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136140	49136140	3:g.49136140T>C	ClinGen:CA2391606	CN169374 not specified;
NM_005051.3(QARS1):c.1864-19C>T	5859	QARS1	Likely benign	-1	RCV002819243;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136144	49136144	NC_000003.11:g.49136144G>A	-
NM_005051.3(QARS1):c.1863+18A>C	5859	QARS1	Likely benign	375666402	RCV000432850\|RCV002521821;	N	MedGen:CN169374\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136300	49136300	3:g.49136300T>G	ClinGen:CA2391615	CN169374 not specified;
NM_005051.3(QARS1):c.1863+17G>C	5859	QARS1	Likely benign	2107097842	RCV002553712;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136301	49136301	49136301	-
NM_005051.3(QARS1):c.1863+11G>A	5859	QARS1	Likely benign	764681784	RCV003093796;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136307	49136307	49136307	-
NM_005051.3(QARS1):c.1863+10G>A	5859	QARS1	Likely benign	749903302	RCV003053385;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136308	49136308	49136308	-
NM_005051.3(QARS1):c.1863+10G>T	5859	QARS1	Likely benign	-1	RCV003067796;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136308	49136308	NC_000003.11:g.49136308C>A	-
NM_005051.3(QARS1):c.1863+7T>C	5859	QARS1	Likely benign	1368869759	RCV003025490;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136311	49136311	49136311	-
NM_005051.3(QARS1):c.1855T>C (p.Phe619Leu)	5859	QARS1	Uncertain significance	758004160	RCV001341027;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136326	49136326	49136326	-
NM_005051.3(QARS1):c.1854C>T (p.Asp618=)	5859	QARS1	Likely benign	-1	RCV002578474;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136327	49136327		-
NM_005051.3(QARS1):c.1847G>A (p.Arg616Lys)	5859	QARS1	Uncertain significance	2042428248	RCV002550315;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136334	49136334	49136334	-
NM_005051.3(QARS1):c.1846A>C (p.Arg616=)	5859	QARS1	Likely benign	765952139	RCV001457751;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136335	49136335	NC_000003.11:g.49136335T>G	ClinGen:CA2391621	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.1841T>C (p.Ile614Thr)	5859	QARS1	Uncertain significance	778303235	RCV001308034;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136340	49136340	49136340	-
NM_005051.3(QARS1):c.1832T>G (p.Ile611Ser)	5859	QARS1	Uncertain significance	757743183	RCV000554317\|RCV000998075\|RCV002527954;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	3	49136349	49136349	3:g.49136349A>C	ClinGen:CA2391626	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.1830C>T (p.Pro610=)	5859	QARS1	Likely benign	-1	RCV003078330;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136351	49136351		-
NM_005051.3(QARS1):c.1827A>C (p.Ala609=)	5859	QARS1	Likely benign	781219702	RCV000867390\|RCV002531185;	N	MedGen:C3661900\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136354	49136354	3:g.49136354T>G	ClinGen:CA2391629	CN169374 not specified;
NM_005051.3(QARS1):c.1826C>T (p.Ala609Val)	5859	QARS1	Uncertain significance	909987369	RCV002563567;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136355	49136355	49136355	-
NM_005051.3(QARS1):c.1822T>G (p.Phe608Val)	5859	QARS1	Uncertain significance	145548376	RCV001220830;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136359	49136359	3:g.49136359A>C	-
NM_005051.3(QARS1):c.1805G>C (p.Gly602Ala)	5859	QARS1	Uncertain significance	972789446	RCV001374280;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136376	49136376	49136376	-
NM_005051.3(QARS1):c.1787C>T (p.Pro596Leu)	5859	QARS1	Uncertain significance	148882908	RCV002573396;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136394	49136394	49136394	-
NM_005051.3(QARS1):c.1776G>A (p.Val592=)	5859	QARS1	Likely benign	-1	RCV003014378;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136405	49136405		-
NM_005051.3(QARS1):c.1774G>C (p.Val592Leu)	5859	QARS1	Uncertain significance	751191501	RCV000412870\|RCV002523942;	N	MedGen:CN169374\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136407	49136407	3:g.49136407C>G	ClinGen:CA2391639	CN169374 not specified;
NM_005051.3(QARS1):c.1770C>G (p.Ile590Met)	5859	QARS1	Uncertain significance	-1	RCV003034038;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136411	49136411	NC_000003.11:g.49136411G>C	-
NM_005051.3(QARS1):c.1761C>T (p.Ser587=)	5859	QARS1	Likely benign	-1	RCV002914891;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136420	49136420		-
NM_005051.3(QARS1):c.1760C>T (p.Ser587Phe)	5859	QARS1	Conflicting interpretations of pathogenicity	144563810	RCV000484581\|RCV001467022;	N	MedGen:C3661900\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136421	49136421	NC_000003.11:g.49136421G>A	ClinGen:CA2391640	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.1759-2A>G	5859	QARS1	Likely pathogenic	1232739970	RCV001379874;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136424	49136424	49136424	-
NM_005051.3(QARS1):c.1759-4A>G	5859	QARS1	Likely benign	764476246	RCV002552356;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136426	49136426	49136426	-
NM_005051.3(QARS1):c.1759-5T>G	5859	QARS1	Uncertain significance	2107098282	RCV002579638;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136427	49136427	49136427	-
NM_005051.3(QARS1):c.1759-13_1759-7del	5859	QARS1	Likely benign	781635166	RCV000483014\|RCV001467484;	N	MedGen:CN169374\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136429	49136435	3:g.49136429_49136435del	ClinGen:CA2391642	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.1759-9C>T	5859	QARS1	Likely benign	-1	RCV003013353;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136431	49136431	NC_000003.11:g.49136431G>A	-
NM_005051.3(QARS1):c.1759-13T>A	5859	QARS1	Conflicting interpretations of pathogenicity	375454834	RCV001754332\|RCV002539854;	N	MedGen:C3661900\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136435	49136435	49136435	-
NM_005051.3(QARS1):c.1759-13T>C	5859	QARS1	Likely benign	-1	RCV003033193;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136435	49136435	NC_000003.11:g.49136435A>G	-
NM_005051.3(QARS1):c.1758+17_1758+18del	5859	QARS1	Benign/Likely benign	372006503	RCV000479290\|RCV002526622;	N	MedGen:CN169374\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136525	49136526	NC_000003.11:g.49136525_49136526del	ClinGen:CA2391655	CN169374 not specified;
NM_005051.3(QARS1):c.1758+14A>T	5859	QARS1	Likely benign	-1	RCV002658199;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136529	49136529	NC_000003.11:g.49136529T>A	-
NM_005051.3(QARS1):c.1758+13C>T	5859	QARS1	Likely benign	773191970	RCV003070602;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136530	49136530	49136530	-
NM_005051.3(QARS1):c.1758+7C>T	5859	QARS1	Likely benign	762420621	RCV001493293;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136536	49136536	49136536	-
NM_005051.3(QARS1):c.1758+4G>A	5859	QARS1	Uncertain significance	-1	RCV002700427;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136539	49136539	NC_000003.11:g.49136539C>T	-
NM_005051.3(QARS1):c.1758G>C (p.Lys586Asn)	5859	QARS1	Uncertain significance	2107098742	RCV002561547;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136543	49136543	49136543	-
NM_005051.3(QARS1):c.1757A>G (p.Lys586Arg)	5859	QARS1	Uncertain significance	2107098749	RCV002562045;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136544	49136544	49136544	-
NM_005051.3(QARS1):c.1747C>A (p.Pro583Thr)	5859	QARS1	Uncertain significance	-1	RCV002937185;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136554	49136554	NC_000003.11:g.49136554G>T	-
NM_005051.3(QARS1):c.1746T>A (p.Phe582Leu)	5859	QARS1	Uncertain significance	762223639	RCV002675449;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136555	49136555	49136555	-
NM_005051.3(QARS1):c.1746T>C (p.Phe582=)	5859	QARS1	Likely benign	762223639	RCV003025487;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136555	49136555	49136555	-
NM_005051.3(QARS1):c.1741A>G (p.Asn581Asp)	5859	QARS1	Uncertain significance	777671697	RCV001212925\|RCV002562387;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MeSH:D030342,MedGen:C0950123	3	49136560	49136560	3:g.49136560T>C	-
NM_005051.3(QARS1):c.1739C>T (p.Thr580Ile)	5859	QARS1	Uncertain significance	2107098823	RCV002562172;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136562	49136562	49136562	-
NM_005051.3(QARS1):c.1738A>G (p.Thr580Ala)	5859	QARS1	Uncertain significance	750907390	RCV000701814;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136563	49136563	3:g.49136563T>C	-	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.1735A>G (p.Ile579Val)	5859	QARS1	Uncertain significance	-1	RCV002909786\|RCV003170591;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MeSH:D030342,MedGen:C0950123	3	49136566	49136566	NC_000003.11:g.49136566T>C	-
NM_005051.3(QARS1):c.1732A>G (p.Ile578Val)	5859	QARS1	Uncertain significance	758929887	RCV001054182;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136569	49136569	3:g.49136569T>C	-
NM_005051.3(QARS1):c.1727G>A (p.Arg576Gln)	5859	QARS1	Uncertain significance	983282837	RCV001047721;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136574	49136574	3:g.49136574C>T	-
NM_005051.3(QARS1):c.1726C>T (p.Arg576Trp)	5859	QARS1	Uncertain significance	780301490	RCV001312517;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136575	49136575	49136575	-
NM_005051.3(QARS1):c.1725A>G (p.Leu575=)	5859	QARS1	Likely benign	-1	RCV003018279;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136576	49136576		-
NM_005051.3(QARS1):c.1723C>T (p.Leu575=)	5859	QARS1	Likely benign	1468553612	RCV001430717;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136578	49136578	49136578	-
NM_005051.3(QARS1):c.1712T>C (p.Val571Ala)	5859	QARS1	Uncertain significance	755259427	RCV000518657\|RCV000697150\|RCV001550562;	N	MedGen:CN169374\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MedGen:CN517202	3	49136589	49136589	NC_000003.11:g.49136589A>G	ClinGen:CA2391670	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.1701A>G (p.Arg567=)	5859	QARS1	Likely benign	1363062208	RCV001426920;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136600	49136600	49136600	-
NM_005051.3(QARS1):c.1700G>A (p.Arg567Gln)	5859	QARS1	Uncertain significance	1468382416	RCV001224133;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136601	49136601	3:g.49136601C>T	-
NM_005051.3(QARS1):c.1699C>T (p.Arg567Ter)	5859	QARS1	Pathogenic	141184565	RCV001066418;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136602	49136602	3:g.49136602G>A	-
NM_005051.3(QARS1):c.1694C>T (p.Ala565Val)	5859	QARS1	Uncertain significance	2107098980	RCV002569284;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136607	49136607	49136607	-
NM_005051.3(QARS1):c.1690dup (p.Thr564fs)	5859	QARS1	Pathogenic	2107099019	RCV001381438;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136610	49136611	49136610	-
NM_005051.3(QARS1):c.1687G>A (p.Asp563Asn)	5859	QARS1	Uncertain significance	974143738	RCV002562778;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136614	49136614	49136614	-
NM_005051.3(QARS1):c.1681C>G (p.Leu561Val)	5859	QARS1	Uncertain significance	1559966804	RCV001229589;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136620	49136620	3:g.49136620G>C	-
NM_005051.3(QARS1):c.1673G>A (p.Arg558His)	5859	QARS1	Uncertain significance	-1	RCV003062600;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136628	49136628	NC_000003.11:g.49136628C>T	-
NM_005051.3(QARS1):c.1672C>A (p.Arg558Ser)	5859	QARS1	Uncertain significance	150328993	RCV001298524;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136629	49136629	49136629	-
NM_005051.3(QARS1):c.1672C>T (p.Arg558Cys)	5859	QARS1	Uncertain significance	150328993	RCV002555203;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136629	49136629	49136629	-
NM_005051.3(QARS1):c.1671G>T (p.Val557=)	5859	QARS1	Benign/Likely benign	115671018	RCV000441868\|RCV001509821;	N	MedGen:CN169374\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136630	49136630	3:g.49136630C>A	ClinGen:CA2391678	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.1667G>A (p.Cys556Tyr)	5859	QARS1	Uncertain significance	879232053	RCV002548017;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136634	49136634	49136634	-
NM_005051.3(QARS1):c.1659A>G (p.Leu553=)	5859	QARS1	Likely benign	1553751689	RCV000655209;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136642	49136642	3:g.49136642T>C	ClinGen:CA433630622	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.1658T>A (p.Leu553Gln)	5859	QARS1	Uncertain significance	1559966841	RCV000692882\|RCV000712885;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MedGen:CN517202	3	49136643	49136643	NC_000003.11:g.49136643A>T	-	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.1654C>G (p.Leu552Val)	5859	QARS1	Uncertain significance	2107099204	RCV002579510;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136647	49136647	49136647	-
NM_005051.3(QARS1):c.1651C>T (p.His551Tyr)	5859	QARS1	Uncertain significance	775185486	RCV002551151;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136650	49136650	49136650	-
NM_005051.3(QARS1):c.1650A>G (p.Pro550=)	5859	QARS1	Likely benign	762120492	RCV000428904\|RCV002521797;	N	MedGen:CN169374\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136651	49136651	3:g.49136651T>C	ClinGen:CA2391681	CN169374 not specified;
NM_005051.3(QARS1):c.1648C>T (p.Pro550Ser)	5859	QARS1	Uncertain significance	-1	RCV002607458;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136653	49136653	NC_000003.11:g.49136653G>A	-
NM_005051.3(QARS1):c.1641A>G (p.Thr547=)	5859	QARS1	Likely benign	1249686253	RCV001454118;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136660	49136660	49136660	-
NM_005051.3(QARS1):c.1635A>G (p.Gln545=)	5859	QARS1	Benign	113144521	RCV000439079\|RCV000712884\|RCV001522762;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136666	49136666	3:g.49136666T>C	ClinGen:CA2391685	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.1630G>A (p.Ala544Thr)	5859	QARS1	Uncertain significance	918156086	RCV001038208;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136671	49136671	3:g.49136671C>T	-
NM_005051.3(QARS1):c.1615-2A>T	5859	QARS1	Likely pathogenic	369802930	RCV001205775;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136688	49136688	3:g.49136688T>A	-
NM_005051.3(QARS1):c.1615-4C>G	5859	QARS1	Likely benign	-1	RCV002867066;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136690	49136690	NC_000003.11:g.49136690G>C	-
NM_005051.3(QARS1):c.1615-7C>T	5859	QARS1	Likely benign	2107099358	RCV003093818;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136693	49136693	49136693	-
NM_005051.3(QARS1):c.1615-9dup	5859	QARS1	Likely benign	1245507170	RCV003070663;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136694	49136695	49136694	-
NM_005051.3(QARS1):c.1615-9T>C	5859	QARS1	Likely benign	199903047	RCV000540950\|RCV001414315;	N	MedGen:C3661900\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136695	49136695	3:g.49136695A>G	ClinGen:CA2391687	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.1615-9T>G	5859	QARS1	Likely benign	199903047	RCV001401498;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136695	49136695	3:g.49136695A>C	-
NM_005051.3(QARS1):c.1615-17C>G	5859	QARS1	Benign	138271247	RCV000427956\|RCV003105900;	N	MedGen:CN169374\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136703	49136703	3:g.49136703G>C	ClinGen:CA2391688	CN169374 not specified;
NM_005051.3(QARS1):c.1615-17C>T	5859	QARS1	Likely benign	138271247	RCV003033327;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136703	49136703	49136703	-
NM_005051.3(QARS1):c.1614+11G>A	5859	QARS1	Likely benign	-1	RCV002624771;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136766	49136766	NC_000003.11:g.49136766C>T	-
NM_005051.3(QARS1):c.1614+3A>G	5859	QARS1	Uncertain significance	1485211824	RCV001206240\|RCV001773462;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MedGen:CN517202	3	49136774	49136774	3:g.49136774T>C	-
NM_005051.3(QARS1):c.1613G>A (p.Arg538Gln)	5859	QARS1	Uncertain significance	778807845	RCV001208751\|RCV001252759\|RCV001563017\|RCV002549245;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|Human Phenotype Ontology:HP:0000252,Human Phenotype Ontology:HP:0001366,Human Phenotype Ontology:HP:0005485,Human Phenotype Ontology:HP:0005489,Human Phenotype Ontology:HP:0005497,MONDO:MON	3	49136778	49136778	3:g.49136778C>T	-
NM_005051.3(QARS1):c.1613G>T (p.Arg538Leu)	5859	QARS1	Uncertain significance	-1	RCV002824618;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136778	49136778	NC_000003.11:g.49136778C>A	-
NM_005051.3(QARS1):c.1612C>T (p.Arg538Trp)	5859	QARS1	Uncertain significance	201176263	RCV000712883\|RCV001371134;	N	MedGen:CN517202\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136779	49136779	NC_000003.11:g.49136779G>A	-
NM_005051.3(QARS1):c.1607G>C (p.Cys536Ser)	5859	QARS1	Uncertain significance	771579029	RCV001215072\|RCV001664758;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MedGen:CN517202	3	49136784	49136784	3:g.49136784C>G	-
NM_005051.3(QARS1):c.1591G>A (p.Ala531Thr)	5859	QARS1	Uncertain significance	-1	RCV003135193;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136800	49136800	NC_000003.11:g.49136800C>T	-
NM_005051.3(QARS1):c.1585C>T (p.Pro529Ser)	5859	QARS1	Uncertain significance	373719958	RCV000690365\|RCV001545016\|RCV002544874;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	3	49136806	49136806	NC_000003.11:g.49136806G>A	-	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.1582C>T (p.Pro528Ser)	5859	QARS1	Uncertain significance	1559967000	RCV000686869;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136809	49136809	3:g.49136809G>A	-	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.1582C>G (p.Pro528Ala)	5859	QARS1	Uncertain significance	-1	RCV002851886;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136809	49136809	NC_000003.11:g.49136809G>C	-
NM_005051.3(QARS1):c.1578C>T (p.Gly526=)	5859	QARS1	Likely benign	763408207	RCV002552999;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136813	49136813	49136813	-
NM_005051.3(QARS1):c.1573C>T (p.Arg525Trp)	5859	QARS1	Uncertain significance	1553751726	RCV000623160\|RCV001303875;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136818	49136818	NC_000003.11:g.49136818G>A	ClinGen:CA352704941	C0950123 Inborn genetic diseases;
NM_005051.3(QARS1):c.1571G>T (p.Arg524Leu)	5859	QARS1	Uncertain significance	767053528	RCV002642073;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136820	49136820	49136820	-
NM_005051.3(QARS1):c.1571G>A (p.Arg524Gln)	5859	QARS1	Uncertain significance	-1	RCV002928595;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136820	49136820	NC_000003.11:g.49136820C>T	-
NM_005051.3(QARS1):c.1568G>A (p.Arg523Gln)	5859	QARS1	Uncertain significance	201013732	RCV000657936\|RCV001242568;	N	MedGen:C3661900\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136823	49136823	3:g.49136823C>T	-	CN517202 not provided;
NM_005051.3(QARS1):c.1567C>T (p.Arg523Ter)	5859	QARS1	Pathogenic	767667312	RCV000685922\|RCV001861901;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MedGen:CN517202	3	49136824	49136824	NC_000003.11:g.49136824G>A	-	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.1564C>T (p.Leu522=)	5859	QARS1	Likely benign	-1	RCV003063656;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136827	49136827		-
NM_005051.3(QARS1):c.1563C>G (p.Ala521=)	5859	QARS1	Likely benign	752671261	RCV002549560;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136828	49136828	3:g.49136828G>C	-
NM_005051.3(QARS1):c.1561G>A (p.Ala521Thr)	5859	QARS1	Uncertain significance	756375405	RCV001045315;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136830	49136830	3:g.49136830C>T	-
NM_005051.3(QARS1):c.1560G>A (p.Thr520=)	5859	QARS1	Uncertain significance	1216381228	RCV002551163;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136831	49136831	49136831	-
NM_005051.3(QARS1):c.1559C>T (p.Thr520Met)	5859	QARS1	Uncertain significance	764216449	RCV000438114\|RCV001238962;	N	MedGen:CN517202\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136832	49136832	3:g.49136832G>A	ClinGen:CA2391708	CN169374 not specified;
NM_005051.3(QARS1):c.1559C>G (p.Thr520Arg)	5859	QARS1	Uncertain significance	764216449	RCV002625391;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136832	49136832	49136832	-
NM_005051.3(QARS1):c.1543C>T (p.Arg515Trp)	5859	QARS1	Pathogenic/Likely pathogenic	587777334	RCV000114975\|RCV000437593;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MedGen:CN517202	3	49136848	49136848	3:g.49136848G>A	ClinGen:CA214476,UniProtKB:P47897#VAR_071192,OMIM:603727.0004	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.1542A>G (p.Pro514=)	5859	QARS1	Likely benign	370232570	RCV000528507\|RCV001474067;	N	MedGen:CN517202\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136849	49136849	3:g.49136849T>C	ClinGen:CA2391711	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.1539C>T (p.Asp513=)	5859	QARS1	Likely benign	-1	RCV003039817;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136852	49136852		-
NM_005051.3(QARS1):c.1528G>A (p.Asp510Asn)	5859	QARS1	Uncertain significance	2042436829	RCV001045855;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136863	49136863	3:g.49136863C>T	-
NM_005051.3(QARS1):c.1527-2A>G	5859	QARS1	Likely pathogenic	1331307146	RCV002642089;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136866	49136866	49136866	-
NM_005051.3(QARS1):c.1527-7T>C	5859	QARS1	Likely benign	-1	RCV002976700;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136871	49136871	NC_000003.11:g.49136871A>G	-
NM_005051.3(QARS1):c.1527-14C>T	5859	QARS1	Likely benign	746433798	RCV003007070;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136878	49136878	49136878	-
NM_005051.3(QARS1):c.1527-18C>T	5859	QARS1	Likely benign	374752377	RCV000444038\|RCV002521724;	N	MedGen:CN169374\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136882	49136882	3:g.49136882G>A	ClinGen:CA2391716	CN169374 not specified;
NM_005051.3(QARS1):c.1527-18C>A	5859	QARS1	Likely benign	-1	RCV003021396;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136882	49136882	NC_000003.11:g.49136882G>T	-
NM_005051.3(QARS1):c.1526+13G>A	5859	QARS1	Likely benign	-1	RCV003085539;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136930	49136930	NC_000003.11:g.49136930C>T	-
NM_005051.3(QARS1):c.1526+11C>T	5859	QARS1	Likely benign	2107100109	RCV003053395;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136932	49136932	49136932	-
NM_005051.3(QARS1):c.1526+9G>A	5859	QARS1	Likely benign	-1	RCV002720148;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136934	49136934	NC_000003.11:g.49136934C>T	-
NM_005051.3(QARS1):c.1526+1G>A	5859	QARS1	Likely pathogenic	372844870	RCV002571354;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136942	49136942	49136942	-
NM_005051.3(QARS1):c.1525C>T (p.Arg509Trp)	5859	QARS1	Conflicting interpretations of pathogenicity	553194272	RCV000865891\|RCV001510749;	N	MedGen:C3661900\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136944	49136944	3:g.49136944G>A	ClinGen:CA2391738	CN169374 not specified;
NM_005051.3(QARS1):c.1507G>A (p.Val503Ile)	5859	QARS1	Uncertain significance	1287967203	RCV001319550;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136962	49136962	49136962	-
NM_005051.3(QARS1):c.1507G>T (p.Val503Leu)	5859	QARS1	Uncertain significance	-1	RCV002857362;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136962	49136962	NC_000003.11:g.49136962C>A	-
NM_005051.3(QARS1):c.1505T>G (p.Leu502Arg)	5859	QARS1	Uncertain significance	2042438556	RCV001216242;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136964	49136964	3:g.49136964A>C	-
NM_005051.3(QARS1):c.1486A>G (p.Lys496Glu)	5859	QARS1	Uncertain significance	2042438753	RCV001345405;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136983	49136983	49136983	-
NM_005051.3(QARS1):c.1485dup (p.Lys496Ter)	5859	QARS1	Pathogenic	2042438780	RCV001381217;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49136983	49136984	49136983	-
NM_005051.3(QARS1):c.1457G>A (p.Arg486His)	5859	QARS1	Uncertain significance	1250051938	RCV001319604;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137012	49137012	49137012	-
NM_005051.3(QARS1):c.1456C>T (p.Arg486Cys)	5859	QARS1	Uncertain significance	750282631	RCV001372814;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137013	49137013	49137013	-
NM_005051.3(QARS1):c.1453G>C (p.Gly485Arg)	5859	QARS1	Uncertain significance	878854751	RCV000229402;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137016	49137016	3:g.49137016C>G	ClinGen:CA10582197	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.1452T>C (p.Tyr484=)	5859	QARS1	Likely benign	762645121	RCV001491320;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137017	49137017	3:g.49137017A>G	ClinGen:CA2391748	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.1451del (p.Tyr484fs)	5859	QARS1	Pathogenic/Likely pathogenic	1064795119	RCV000478623\|RCV002525873;	N	MedGen:CN517202\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137018	49137018	NC_000003.11:g.49137018del	ClinGen:CA16617988	CN517202 not provided;
NM_005051.3(QARS1):c.1437T>C (p.Pro479=)	5859	QARS1	Likely benign	-1	RCV002877509;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137032	49137032		-
NM_005051.3(QARS1):c.1435C>T (p.Pro479Ser)	5859	QARS1	Uncertain significance	766391690	RCV002571337;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137034	49137034	49137034	-
NM_005051.3(QARS1):c.1430A>G (p.Tyr477Cys)	5859	QARS1	Conflicting interpretations of pathogenicity	1172486173	RCV000735296\|RCV002535425\|RCV003156114;	N	11 conditions\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|	3	49137039	49137039	NC_000003.11:g.49137039T>C	-
NM_005051.3(QARS1):c.1426G>A (p.Val476Ile)	5859	QARS1	Conflicting interpretations of pathogenicity	144092780	RCV000464919\|RCV001521138;	N	MedGen:C3661900\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137043	49137043	3:g.49137043C>T	ClinGen:CA2391750	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.1423G>C (p.Asp475His)	5859	QARS1	Uncertain significance	1367183765	RCV002552293;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137046	49137046	49137046	-
NM_005051.3(QARS1):c.1420C>G (p.Leu474Val)	5859	QARS1	Uncertain significance	754909328	RCV002245283;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137049	49137049	49137049	-
NM_005051.3(QARS1):c.1420C>T (p.Leu474=)	5859	QARS1	Likely benign	-1	RCV003093277;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137049	49137049		-
NM_005051.3(QARS1):c.1417G>C (p.Ala473Pro)	5859	QARS1	Uncertain significance	2042439830	RCV001347419;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137052	49137052	49137052	-
NM_005051.3(QARS1):c.1391_1401dup (p.Phe468fs)	5859	QARS1	Pathogenic	2107100555	RCV002568523;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137067	49137068	49137067	-
NM_005051.3(QARS1):c.1398C>G (p.Ser466=)	5859	QARS1	Likely benign	370978363	RCV000607701\|RCV001440843;	N	MedGen:CN169374\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137071	49137071	3:g.49137071G>C	ClinGen:CA74473447	CN169374 not specified;
NM_005051.3(QARS1):c.1390C>T (p.Arg464Cys)	5859	QARS1	Uncertain significance	141072684	RCV001346873;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137079	49137079	49137079	-
NM_005051.3(QARS1):c.1389-3C>A	5859	QARS1	Conflicting interpretations of pathogenicity	368358627	RCV001785378;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137083	49137083	49137083	-
NM_005051.3(QARS1):c.1389-3C>T	5859	QARS1	Uncertain significance	-1	RCV002620842;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137083	49137083	NC_000003.11:g.49137083G>A	-
NM_005051.3(QARS1):c.1389-14C>T	5859	QARS1	Likely benign	1281496185	RCV002551246;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137094	49137094	49137094	-
NM_005051.3(QARS1):c.1389-20dup	5859	QARS1	Likely benign	754961432	RCV003070625;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137099	49137100	49137099	-
NM_005051.3(QARS1):c.1388+18A>G	5859	QARS1	Likely benign	774150476	RCV003081062;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137176	49137176	49137176	-
NM_005051.3(QARS1):c.1388+7G>A	5859	QARS1	Benign/Likely benign	201234869	RCV000440672\|RCV000551557\|RCV001523707;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137187	49137187	3:g.49137187C>T	ClinGen:CA2391770	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.1388G>A (p.Arg463Gln)	5859	QARS1	Uncertain significance	374178767	RCV000655184;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137194	49137194	3:g.49137194C>T	ClinGen:CA74473619	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.1385C>T (p.Ala462Val)	5859	QARS1	Conflicting interpretations of pathogenicity	373289986	RCV002034833\|RCV002543440;	N	MedGen:C3661900\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137197	49137197	49137197	-
NM_005051.3(QARS1):c.1375G>A (p.Glu459Lys)	5859	QARS1	Uncertain significance	-1	RCV003028465;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137207	49137207	NC_000003.11:g.49137207C>T	-
NM_005051.3(QARS1):c.1374G>A (p.Lys458=)	5859	QARS1	Likely benign	-1	RCV003038012;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137208	49137208		-
NM_005051.3(QARS1):c.1362_1365del (p.Leu455fs)	5859	QARS1	Pathogenic	747938605	RCV001583578\|RCV002579441;	N	MedGen:C3661900\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137217	49137220	49137216	-
NM_005051.3(QARS1):c.1362A>G (p.Ser454=)	5859	QARS1	Likely benign	755542401	RCV001421947;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137220	49137220	49137220	-
NM_005051.3(QARS1):c.1347G>A (p.Glu449=)	5859	QARS1	Likely benign	-1	RCV002797311;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137235	49137235		-
NM_005051.3(QARS1):c.1345G>T (p.Glu449Ter)	5859	QARS1	Pathogenic	957599864	RCV002550363;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137237	49137237	49137237	-
NM_005051.3(QARS1):c.1342A>G (p.Ile448Val)	5859	QARS1	Uncertain significance	2042443370	RCV001068321;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137240	49137240	3:g.49137240T>C	-
NM_005051.3(QARS1):c.1329C>T (p.Cys443=)	5859	QARS1	Likely benign	749498572	RCV001474941;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137253	49137253	49137253	-
NM_005051.3(QARS1):c.1325_1326del (p.His442fs)	5859	QARS1	Likely pathogenic	2107101318	RCV001783657;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137256	49137257	49137255	-
NM_005051.3(QARS1):c.1315G>A (p.Asp439Asn)	5859	QARS1	Uncertain significance	764347049	RCV001768584\|RCV002543991;	N	MedGen:C3661900\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137267	49137267	49137267	-
NM_005051.3(QARS1):c.1314C>T (p.Tyr438=)	5859	QARS1	Likely benign	1294643628	RCV002563639;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137268	49137268	49137268	-
NM_005051.3(QARS1):c.1313A>G (p.Tyr438Cys)	5859	QARS1	Uncertain significance	1020521977	RCV002579537;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137269	49137269	49137269	-
NM_005051.3(QARS1):c.1309A>T (p.Thr437Ser)	5859	QARS1	Uncertain significance	2042443898	RCV001213382;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137273	49137273	3:g.49137273T>A	-
NM_005051.3(QARS1):c.1307C>T (p.Pro436Leu)	5859	QARS1	Uncertain significance	1456791515	RCV001036990;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137275	49137275	3:g.49137275G>A	-
NM_005051.3(QARS1):c.1307C>A (p.Pro436His)	5859	QARS1	Uncertain significance	1456791515	RCV001371658;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137275	49137275	49137275	-
NM_005051.3(QARS1):c.1304A>G (p.Tyr435Cys)	5859	QARS1	Uncertain significance	143462532	RCV001045976\|RCV001732024;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MedGen:CN517202	3	49137278	49137278	3:g.49137278T>C	-
NM_005051.3(QARS1):c.1301T>C (p.Ile434Thr)	5859	QARS1	Uncertain significance	1559967530	RCV000691612;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137281	49137281	NC_000003.11:g.49137281A>G	-	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.1296-11A>G	5859	QARS1	Likely benign	-1	RCV002979350;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137297	49137297	NC_000003.11:g.49137297T>C	-
NM_005051.3(QARS1):c.1296-14C>T	5859	QARS1	Likely benign	-1	RCV002626658;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137300	49137300	NC_000003.11:g.49137300G>A	-
NM_005051.3(QARS1):c.1296-16T>C	5859	QARS1	Likely benign	976282467	RCV003053409;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137302	49137302	49137302	-
NM_005051.3(QARS1):c.1296-19C>G	5859	QARS1	Likely benign	753331885	RCV003025468;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137305	49137305	49137305	-
NM_005051.3(QARS1):c.1295+20G>C	5859	QARS1	Benign/Likely benign	377586991	RCV000430248\|RCV002525403;	N	MedGen:CN169374\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137374	49137374	3:g.49137374C>G	ClinGen:CA2391813	CN169374 not specified;
NM_005051.3(QARS1):c.1295+20G>A	5859	QARS1	Likely benign	377586991	RCV003007048;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137374	49137374	49137374	-
NM_005051.3(QARS1):c.1295+18T>C	5859	QARS1	Likely benign	761369646	RCV003061792;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137376	49137376	49137376	-
NM_005051.3(QARS1):c.1295+17G>T	5859	QARS1	Likely benign	764843548	RCV002553710;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137377	49137377	49137377	-
NM_005051.3(QARS1):c.1295+13T>C	5859	QARS1	Benign	149070379	RCV000421643\|RCV002521584;	N	MedGen:CN169374\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137381	49137381	3:g.49137381A>G	ClinGen:CA2391818	CN169374 not specified;
NM_005051.3(QARS1):c.1295+7G>A	5859	QARS1	Likely benign	767895338	RCV002562286;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137387	49137387	49137387	-
NM_005051.3(QARS1):c.1292A>C (p.Lys431Thr)	5859	QARS1	Uncertain significance	778340693	RCV001756237\|RCV002538737;	N	MedGen:C3661900\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137397	49137397	49137397	-
NM_005051.3(QARS1):c.1288G>A (p.Asp430Asn)	5859	QARS1	Uncertain significance	-1	RCV002581412;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137401	49137401	NC_000003.11:g.49137401C>T	-
NM_005051.3(QARS1):c.1286G>A (p.Gly429Glu)	5859	QARS1	Uncertain significance	2042446400	RCV001070504;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137403	49137403	3:g.49137403C>T	-
NM_005051.3(QARS1):c.1284_1285del (p.Asp430fs)	5859	QARS1	Conflicting interpretations of pathogenicity	775652214	RCV001855342\|RCV002534224\|RCV003333093;	N	MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137404	49137405	3:g.49137404_49137405del	ClinGen:CA2391825	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.1280G>A (p.Arg427His)	5859	QARS1	Uncertain significance	148004466	RCV001054718\|RCV001540903;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MedGen:CN517202	3	49137409	49137409	3:g.49137409C>T	-
NM_005051.3(QARS1):c.1279C>T (p.Arg427Cys)	5859	QARS1	Uncertain significance	746114521	RCV001338009;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137410	49137410	49137410	-
NM_005051.3(QARS1):c.1272_1279del (p.His426fs)	5859	QARS1	Pathogenic	1238347256	RCV002563562;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137410	49137417	49137409	-
NM_005051.3(QARS1):c.1278C>T (p.His426=)	5859	QARS1	Likely benign	-1	RCV002867308;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137411	49137411		-
NM_005051.3(QARS1):c.1276C>A (p.His426Asn)	5859	QARS1	Uncertain significance	-1	RCV003067518;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137413	49137413	NC_000003.11:g.49137413G>T	-
NM_005051.3(QARS1):c.1274A>T (p.His425Leu)	5859	QARS1	Uncertain significance	2107101880	RCV002579530;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137415	49137415	49137415	-
NM_005051.3(QARS1):c.1274A>G (p.His425Arg)	5859	QARS1	Uncertain significance	-1	RCV003063830;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137415	49137415	NC_000003.11:g.49137415T>C	-
NM_005051.3(QARS1):c.1270C>G (p.Pro424Ala)	5859	QARS1	Uncertain significance	918533004	RCV001837214;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137419	49137419	49137419	-
NM_005051.3(QARS1):c.1270C>T (p.Pro424Ser)	5859	QARS1	Uncertain significance	918533004	RCV002545670;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137419	49137419	49137419	-
NM_005051.3(QARS1):c.1267A>G (p.Thr423Ala)	5859	QARS1	Uncertain significance	746791896	RCV000477590;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137422	49137422	NC_000003.11:g.49137422T>C	ClinGen:CA2391833	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.1255C>T (p.Arg419Ter)	5859	QARS1	Conflicting interpretations of pathogenicity	769378726	RCV001771384\|RCV002540541;	N	MedGen:C3661900\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137434	49137434	49137434	-
NM_005051.3(QARS1):c.1253A>G (p.Tyr418Cys)	5859	QARS1	Uncertain significance	772662033	RCV001305714;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137436	49137436	49137436	-
NM_005051.3(QARS1):c.1246G>A (p.Val416Ile)	5859	QARS1	Uncertain significance	147076980	RCV000520706\|RCV000655203\|RCV003243166;	N	MedGen:C3661900\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MeSH:D030342,MedGen:C0950123	3	49137443	49137443	3:g.49137443C>T	ClinGen:CA2391839	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.1242C>T (p.Asp414=)	5859	QARS1	Likely benign	-1	RCV002796043;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137447	49137447		-
NM_005051.3(QARS1):c.1229A>G (p.Asp410Gly)	5859	QARS1	Uncertain significance	2107102098	RCV002573386;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137460	49137460	49137460	-
NM_005051.3(QARS1):c.1223T>C (p.Met408Thr)	5859	QARS1	Uncertain significance	2107102130	RCV002625337;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137466	49137466	49137466	-
NM_005051.3(QARS1):c.1221G>A (p.Val407=)	5859	QARS1	Likely benign	2107102134	RCV002561605;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137468	49137468	49137468	-
NM_005051.3(QARS1):c.1208G>A (p.Arg403Gln)	5859	QARS1	Uncertain significance	370681625	RCV001064740;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137481	49137481	3:g.49137481C>T	-
NM_005051.3(QARS1):c.1207C>T (p.Arg403Trp)	5859	QARS1	Conflicting interpretations of pathogenicity	587777332	RCV000114973;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137482	49137482	3:g.49137482G>A	ClinGen:CA214474,UniProtKB:P47897#VAR_071191,OMIM:603727.0002	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.1203A>G (p.Thr401=)	5859	QARS1	Likely benign	578209547	RCV001485571;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137486	49137486	49137486	-
NM_005051.3(QARS1):c.1195G>A (p.Glu399Lys)	5859	QARS1	Uncertain significance	143072084	RCV000655191\|RCV001592835;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MedGen:CN517202	3	49137494	49137494	3:g.49137494C>T	ClinGen:CA2391845	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.1194del (p.Glu399fs)	5859	QARS1	Pathogenic	2107102230	RCV002563621;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137495	49137495	49137494	-
NM_005051.3(QARS1):c.1194C>T (p.Gly398=)	5859	QARS1	Likely benign	200860200	RCV002548782;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137495	49137495	49137495	-
NM_005051.3(QARS1):c.1189G>C (p.Glu397Gln)	5859	QARS1	Uncertain significance	758759632	RCV001770668\|RCV002540277;	N	MedGen:C3661900\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137500	49137500	49137500	-
NM_005051.3(QARS1):c.1181A>G (p.Lys394Arg)	5859	QARS1	Uncertain significance	2107102257	RCV001361681;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137508	49137508	49137508	-
NM_005051.3(QARS1):c.1176G>A (p.Lys392=)	5859	QARS1	Likely benign	2042448418	RCV003053417;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137513	49137513	49137513	-
NM_005051.3(QARS1):c.1172G>A (p.Arg391His)	5859	QARS1	Uncertain significance	746827969	RCV002560672;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137517	49137517	49137517	-
NM_005051.3(QARS1):c.1170G>A (p.Met390Ile)	5859	QARS1	Uncertain significance	1559967769	RCV000694739\|RCV001571716;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MedGen:CN517202	3	49137519	49137519	NC_000003.11:g.49137519C>T	-	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.1168A>G (p.Met390Val)	5859	QARS1	Uncertain significance	-1	RCV002584363;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137521	49137521	NC_000003.11:g.49137521T>C	-
NM_005051.3(QARS1):c.1165-8C>G	5859	QARS1	Likely benign	769561465	RCV002525673;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137532	49137532	NC_000003.11:g.49137532G>C	ClinGen:CA2391853	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.1165-17G>A	5859	QARS1	Likely benign	-1	RCV003072360;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137541	49137541	NC_000003.11:g.49137541C>T	-
NM_005051.3(QARS1):c.1164+20T>C	5859	QARS1	Likely benign	-1	RCV003009501;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137603	49137603	NC_000003.11:g.49137603A>G	-
NM_005051.3(QARS1):c.1164+6G>C	5859	QARS1	Uncertain significance	1553751939	RCV002557615;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137617	49137617	49137617	-
NM_005051.3(QARS1):c.1164+3G>A	5859	QARS1	Uncertain significance	-1	RCV002781015;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137620	49137620	NC_000003.11:g.49137620C>T	-
NM_005051.3(QARS1):c.1164+1G>C	5859	QARS1	Likely pathogenic	1262558494	RCV001376894;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137622	49137622	49137622	-
NM_005051.3(QARS1):c.1164G>T (p.Glu388Asp)	5859	QARS1	Uncertain significance	201842141	RCV001238137;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137623	49137623	3:g.49137623C>A	-
NM_005051.3(QARS1):c.1163A>G (p.Glu388Gly)	5859	QARS1	Uncertain significance	777424712	RCV000687971;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137624	49137624	3:g.49137624T>C	-	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.1162G>C (p.Glu388Gln)	5859	QARS1	Uncertain significance	-1	RCV002578421;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137625	49137625	NC_000003.11:g.49137625C>G	-
NM_005051.3(QARS1):c.1160T>G (p.Phe387Cys)	5859	QARS1	Uncertain significance	899079673	RCV000466870\|RCV000487819;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MedGen:C3661900	3	49137627	49137627	NC_000003.11:g.49137627A>C	ClinGen:CA16611312	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.1160T>C (p.Phe387Ser)	5859	QARS1	Uncertain significance	-1	RCV002815378;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137627	49137627	NC_000003.11:g.49137627A>G	-
NM_005051.3(QARS1):c.1156C>T (p.Leu386Phe)	5859	QARS1	Uncertain significance	1291156079	RCV002571279;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137631	49137631	49137631	-
NM_005051.3(QARS1):c.1141GAG[1] (p.Glu382del)	5859	QARS1	Uncertain significance	2042450960	RCV001069190;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137641	49137643	3:g.49137641_49137643del	-
NM_005051.3(QARS1):c.1139T>G (p.Met380Arg)	5859	QARS1	Uncertain significance	2042451058	RCV001347640;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137648	49137648	49137648	-
NM_005051.3(QARS1):c.1133G>A (p.Arg378His)	5859	QARS1	Uncertain significance	777116688	RCV002552222;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137654	49137654	49137654	-
NM_005051.3(QARS1):c.1132C>T (p.Arg378Cys)	5859	QARS1	Conflicting interpretations of pathogenicity	185476065	RCV000735295\|RCV001299085\|RCV001592938\|RCV003156113\|RCV003411687;	N	11 conditions\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MedGen:C3661900\|\|	3	49137655	49137655	NC_000003.11:g.49137655G>A	-
NM_005051.3(QARS1):c.1132C>G (p.Arg378Gly)	5859	QARS1	Uncertain significance	185476065	RCV001254913;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137655	49137655	3:g.49137655G>C	-
NM_005051.3(QARS1):c.1122C>T (p.Pro374=)	5859	QARS1	Likely benign	572025824	RCV000615541\|RCV001397928;	N	MedGen:CN169374\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137665	49137665	3:g.49137665G>A	ClinGen:CA2391881	CN169374 not specified;
NM_005051.3(QARS1):c.1114C>T (p.Pro372Ser)	5859	QARS1	Uncertain significance	-1	RCV002895317;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137673	49137673	NC_000003.11:g.49137673G>A	-
NM_005051.3(QARS1):c.1099G>A (p.Gly367Ser)	5859	QARS1	Uncertain significance	-1	RCV002927697;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137688	49137688	NC_000003.11:g.49137688C>T	-
NM_005051.3(QARS1):c.1097A>G (p.Lys366Arg)	5859	QARS1	Uncertain significance	2042451493	RCV001296124;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137690	49137690	49137690	-
NM_005051.3(QARS1):c.1094T>C (p.Leu365Pro)	5859	QARS1	Uncertain significance	962759884	RCV002579687;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137693	49137693	49137693	-
NM_005051.3(QARS1):c.1090G>C (p.Glu364Gln)	5859	QARS1	Uncertain significance	-1	RCV003130377;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137697	49137697	NC_000003.11:g.49137697C>G	-
NM_005051.3(QARS1):c.1085G>T (p.Gly362Val)	5859	QARS1	Uncertain significance	763512186	RCV001929647\|RCV002560537;	N	MedGen:C3661900\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137702	49137702	49137702	-
NM_005051.3(QARS1):c.1081C>T (p.Arg361Ter)	5859	QARS1	Pathogenic	751537797	RCV001211409;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137706	49137706	3:g.49137706G>A	-
NM_005051.3(QARS1):c.1075del (p.His359fs)	5859	QARS1	Pathogenic	2042451819	RCV002564380;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137712	49137712	49137711	-
NM_005051.3(QARS1):c.1073G>T (p.Cys358Phe)	5859	QARS1	Uncertain significance	2042451884	RCV002657719;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137714	49137714	49137714	-
NM_005051.3(QARS1):c.1067A>T (p.Tyr356Phe)	5859	QARS1	Uncertain significance	2107103019	RCV002545648;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137720	49137720	49137720	-
NM_005051.3(QARS1):c.1060C>G (p.Leu354Val)	5859	QARS1	Uncertain significance	1370961350	RCV001063435\|RCV001569572;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MedGen:CN517202	3	49137727	49137727	3:g.49137727G>C	-
NM_005051.3(QARS1):c.1058G>T (p.Gly353Val)	5859	QARS1	Conflicting interpretations of pathogenicity	752600100	RCV001027994\|RCV003227895;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MedGen:CN517202	3	49137729	49137729	3:g.49137729C>A	-
NM_005051.3(QARS1):c.1056-10T>C	5859	QARS1	Likely benign	-1	RCV002985654;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137741	49137741	NC_000003.11:g.49137741A>G	-
NM_005051.3(QARS1):c.1056-12G>A	5859	QARS1	Likely benign	777731620	RCV003104172;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137743	49137743	49137743	-
NM_005051.3(QARS1):c.1056-13C>T	5859	QARS1	Likely benign	369771745	RCV000425615\|RCV002522448;	N	MedGen:CN169374\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137744	49137744	3:g.49137744G>A	ClinGen:CA2391891	CN169374 not specified;
NM_005051.3(QARS1):c.1056-13C>G	5859	QARS1	Likely benign	-1	RCV002861586;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137744	49137744	NC_000003.11:g.49137744G>C	-
NM_005051.3(QARS1):c.1055+20G>A	5859	QARS1	Likely benign	763569700	RCV002553008;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137793	49137793	49137793	-
NM_005051.3(QARS1):c.1055+15A>G	5859	QARS1	Likely benign	759522611	RCV002552996;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137798	49137798	49137798	-
NM_005051.3(QARS1):c.1055+10G>C	5859	QARS1	Benign/Likely benign	372899947	RCV000557515\|RCV001513684;	N	MedGen:C3661900\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137803	49137803	NC_000003.11:g.49137803C>G	ClinGen:CA2391905	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.1055+8C>T	5859	QARS1	Likely benign	1559967983	RCV001451174;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137805	49137805	3:g.49137805G>A	-
NM_005051.3(QARS1):c.1055+7C>T	5859	QARS1	Likely benign	2107103323	RCV001368886;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137806	49137806	49137806	-
NM_005051.3(QARS1):c.1052G>A (p.Arg351His)	5859	QARS1	Uncertain significance	1450459883	RCV002552872;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137816	49137816	49137816	-
NM_005051.3(QARS1):c.1051C>T (p.Arg351Cys)	5859	QARS1	Uncertain significance	763901654	RCV001240864\|RCV001545512;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MedGen:C3661900	3	49137817	49137817	3:g.49137817G>A	-
NM_005051.3(QARS1):c.1049T>G (p.Ile350Ser)	5859	QARS1	Uncertain significance	-1	RCV002796674;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137819	49137819	NC_000003.11:g.49137819A>C	-
NM_005051.3(QARS1):c.1047C>T (p.Leu349=)	5859	QARS1	Likely benign	200795712	RCV001505334\|RCV001720209;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MedGen:C3661900	3	49137821	49137821	3:g.49137821G>A	ClinGen:CA2391909	CN169374 not specified;
NM_005051.3(QARS1):c.1038T>C (p.Ala346=)	5859	QARS1	Likely benign	-1	RCV003109040;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137830	49137830		-
NM_005051.3(QARS1):c.1036G>A (p.Ala346Thr)	5859	QARS1	Uncertain significance	2042453818	RCV001233262;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137832	49137832	3:g.49137832C>T	-
NM_005051.3(QARS1):c.1032G>A (p.Ala344=)	5859	QARS1	Likely benign	565068821	RCV001697445\|RCV002529475;	N	MedGen:C3661900\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137836	49137836	3:g.49137836C>T	ClinGen:CA74474909	CN169374 not specified;
NM_005051.3(QARS1):c.1031C>T (p.Ala344Val)	5859	QARS1	Uncertain significance	749995144	RCV002547966;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137837	49137837	49137837	-
NM_005051.3(QARS1):c.1028A>G (p.Tyr343Cys)	5859	QARS1	Uncertain significance	2042454007	RCV002555405;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137840	49137840	49137840	-
NM_005051.3(QARS1):c.1026A>G (p.Leu342=)	5859	QARS1	Uncertain significance	1559968026	RCV002579631;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137842	49137842	49137842	-
NM_005051.3(QARS1):c.1021C>T (p.Gln341Ter)	5859	QARS1	Pathogenic	-1	RCV002706068;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137847	49137847	NC_000003.11:g.49137847G>A	-
NM_005051.3(QARS1):c.1014T>C (p.Tyr338=)	5859	QARS1	Benign	138685078	RCV000417720\|RCV000712882\|RCV001518699;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137854	49137854	3:g.49137854A>G	ClinGen:CA2391913	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.1013A>G (p.Tyr338Cys)	5859	QARS1	Uncertain significance	1174267054	RCV001361697\|RCV003365366;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MeSH:D030342,MedGen:C0950123	3	49137855	49137855	49137855	-
NM_005051.3(QARS1):c.1009_1012del (p.Asp337fs)	5859	QARS1	Pathogenic	1186557939	RCV001070505\|RCV003238301;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MedGen:CN517202	3	49137856	49137859	3:g.49137856_49137859del	-
NM_005051.3(QARS1):c.1011C>T (p.Asp337=)	5859	QARS1	Likely benign	-1	RCV003015655;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137857	49137857		-
NM_005051.3(QARS1):c.1005G>A (p.Ala335=)	5859	QARS1	Likely benign	779575422	RCV001426878;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137863	49137863	3:g.49137863C>T	-
NM_005051.3(QARS1):c.1005G>T (p.Ala335=)	5859	QARS1	Likely benign	-1	RCV002666582;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137863	49137863		-
NM_005051.3(QARS1):c.1004C>T (p.Ala335Val)	5859	QARS1	Uncertain significance	778484822	RCV001042547;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137864	49137864	3:g.49137864G>A	-
NM_005051.3(QARS1):c.1004C>G (p.Ala335Gly)	5859	QARS1	Uncertain significance	778484822	RCV001044647;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137864	49137864	3:g.49137864G>C	-
NM_005051.3(QARS1):c.1002T>C (p.Tyr334=)	5859	QARS1	Likely benign	778288296	RCV001499342;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137866	49137866	49137866	-
NM_005051.3(QARS1):c.992A>G (p.Lys331Arg)	5859	QARS1	Uncertain significance	2107103604	RCV002554231;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137876	49137876	49137876	-
NM_005051.3(QARS1):c.991A>G (p.Lys331Glu)	5859	QARS1	Uncertain significance	-1	RCV002711439;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137877	49137877	NC_000003.11:g.49137877T>C	-
NM_005051.3(QARS1):c.991A>C (p.Lys331Gln)	5859	QARS1	Uncertain significance	-1	RCV003054979;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137877	49137877	NC_000003.11:g.49137877T>G	-
NM_005051.3(QARS1):c.979T>C (p.Tyr327His)	5859	QARS1	Uncertain significance	1435075957	RCV002592556;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137889	49137889	49137889	-
NM_005051.3(QARS1):c.977G>A (p.Gly326Asp)	5859	QARS1	Uncertain significance	746002985	RCV001348394;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137891	49137891	49137891	-
NM_005051.3(QARS1):c.977-4_977-3dup	5859	QARS1	Likely benign	955013342	RCV003061732;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137893	49137894	49137893	-
NM_005051.3(QARS1):c.977-3C>G	5859	QARS1	Uncertain significance	1333221962	RCV001044648;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137894	49137894	3:g.49137894G>C	-
NM_005051.3(QARS1):c.977-4C>T	5859	QARS1	Likely benign	-1	RCV002615918;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137895	49137895	NC_000003.11:g.49137895G>A	-
NM_005051.3(QARS1):c.977-13_977-10del	5859	QARS1	Likely benign	-1	RCV002967750;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137901	49137904	NC_000003.11:g.49137903_49137906del	-
NM_005051.3(QARS1):c.977-13C>A	5859	QARS1	Benign	4521268	RCV000445289\|RCV001513530;	N	MedGen:CN169374\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137904	49137904	3:g.49137904G>T	ClinGen:CA2391922	CN169374 not specified;
NM_005051.3(QARS1):c.977-18dup	5859	QARS1	Likely benign	750040700	RCV003081028;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137908	49137909	49137908	-
NM_005051.3(QARS1):c.977-17G>A	5859	QARS1	Likely benign	-1	RCV003072582;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137908	49137908	NC_000003.11:g.49137908C>T	-
NM_005051.3(QARS1):c.976+17G>C	5859	QARS1	Likely benign	527696905	RCV003061783;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137991	49137991	49137991	-
NM_005051.3(QARS1):c.976+11G>C	5859	QARS1	Likely benign	549390023	RCV003061726;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49137997	49137997	49137997	-
NM_005051.3(QARS1):c.973C>T (p.Leu325=)	5859	QARS1	Uncertain significance	2107103966	RCV002545703;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49138011	49138011	49138011	-
NM_005051.3(QARS1):c.972G>A (p.Trp324Ter)	5859	QARS1	Pathogenic	-1	RCV002735867;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49138012	49138012	NC_000003.11:g.49138012C>T	-
NM_005051.3(QARS1):c.969C>T (p.Ala323=)	5859	QARS1	Likely benign	373752424	RCV001720173\|RCV002519554;	N	MedGen:C3661900\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49138015	49138015	3:g.49138015G>A	ClinGen:CA2391934	CN169374 not specified;
NM_005051.3(QARS1):c.960C>T (p.Asp320=)	5859	QARS1	Likely benign	780978358	RCV000427693\|RCV001405357;	N	MedGen:CN169374\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49138024	49138024	3:g.49138024G>A	ClinGen:CA2391936	CN169374 not specified;
NM_005051.3(QARS1):c.954C>A (p.Ile318=)	5859	QARS1	Likely benign	1403428399	RCV002544574;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49138030	49138030	3:g.49138030G>T	-
NM_005051.3(QARS1):c.950C>T (p.Ala317Val)	5859	QARS1	Uncertain significance	-1	RCV002857258;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49138034	49138034	NC_000003.11:g.49138034G>A	-
NM_005051.3(QARS1):c.948G>A (p.Thr316=)	5859	QARS1	Likely benign	749720721	RCV001441170;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49138036	49138036	3:g.49138036C>T	-
NM_005051.3(QARS1):c.947C>T (p.Thr316Met)	5859	QARS1	Uncertain significance	151217558	RCV001239357;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49138037	49138037	3:g.49138037G>A	-
NM_005051.3(QARS1):c.943T>C (p.Phe315Leu)	5859	QARS1	Uncertain significance	779300608	RCV002571295;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49138041	49138041	49138041	-
NM_005051.3(QARS1):c.939G>A (p.Lys313=)	5859	QARS1	Likely benign	765145509	RCV003007027;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49138045	49138045	49138045	-
NM_005051.3(QARS1):c.937A>C (p.Lys313Gln)	5859	QARS1	Uncertain significance	746386543	RCV001304464;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49138047	49138047	49138047	-
NM_005051.3(QARS1):c.933A>G (p.Glu311=)	5859	QARS1	Likely benign	775610674	RCV001467048;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49138051	49138051	3:g.49138051T>C	ClinGen:CA2391942	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.930G>A (p.Glu310=)	5859	QARS1	Likely benign	377081629	RCV001469191\|RCV001704412;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MedGen:CN517202	3	49138054	49138054	3:g.49138054C>T	ClinGen:CA2391943	CN169374 not specified;
NM_005051.3(QARS1):c.924G>A (p.Glu308=)	5859	QARS1	Likely benign	1207601282	RCV003081077;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49138060	49138060	49138060	-
NM_005051.3(QARS1):c.905T>C (p.Phe302Ser)	5859	QARS1	Uncertain significance	2107104202	RCV002552245;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49138079	49138079	49138079	-
NM_005051.3(QARS1):c.901C>T (p.Arg301Cys)	5859	QARS1	Uncertain significance	1370265763	RCV000686178\|RCV001797125;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MedGen:CN517202	3	49138083	49138083	3:g.49138083G>A	-	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.895T>C (p.Phe299Leu)	5859	QARS1	Uncertain significance	-1	RCV002595848\|RCV003128959;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MedGen:CN517202	3	49138089	49138089	NC_000003.11:g.49138089A>G	-
NM_005051.3(QARS1):c.889A>G (p.Ile297Val)	5859	QARS1	Uncertain significance	962335441	RCV002550403;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49138095	49138095	49138095	-
NM_005051.3(QARS1):c.884A>G (p.Asn295Ser)	5859	QARS1	Uncertain significance	-1	RCV002637381;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49138100	49138100	NC_000003.11:g.49138100T>C	-
NM_005051.3(QARS1):c.877-5C>T	5859	QARS1	Likely benign	2107104334	RCV003025443;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49138112	49138112	49138112	-
NM_005051.3(QARS1):c.877-9C>G	5859	QARS1	Uncertain significance	-1	RCV002819961;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49138116	49138116	NC_000003.11:g.49138116G>C	-
NM_005051.3(QARS1):c.877-12C>T	5859	QARS1	Likely benign	1197276215	RCV003007056;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49138119	49138119	49138119	-
NM_005051.3(QARS1):c.877-15G>A	5859	QARS1	Likely benign	368949211	RCV000442481\|RCV002526358;	N	MedGen:CN169374\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49138122	49138122	3:g.49138122C>T	ClinGen:CA2391955	CN169374 not specified;
NM_005051.3(QARS1):c.877-17T>C	5859	QARS1	Likely benign	374002070	RCV000430603\|RCV002524863;	N	MedGen:CN169374\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49138124	49138124	3:g.49138124A>G	ClinGen:CA2391956	CN169374 not specified;
NM_005051.3(QARS1):c.876+18G>C	5859	QARS1	Likely benign	1247192471	RCV002550516;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49138770	49138770	49138770	-
NM_005051.3(QARS1):c.876+17G>A	5859	QARS1	Likely benign	-1	RCV002650525;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49138771	49138771	NC_000003.11:g.49138771C>T	-
NM_005051.3(QARS1):c.876+10T>C	5859	QARS1	Likely benign	-1	RCV002625214;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49138778	49138778	NC_000003.11:g.49138778A>G	-
NM_005051.3(QARS1):c.876+9G>C	5859	QARS1	Likely benign	-1	RCV002877468;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49138779	49138779	NC_000003.11:g.49138779C>G	-
NM_005051.3(QARS1):c.862T>C (p.Phe288Leu)	5859	QARS1	Uncertain significance	-1	RCV002962109;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49138802	49138802	NC_000003.11:g.49138802A>G	-
NM_005051.3(QARS1):c.839A>T (p.His280Leu)	5859	QARS1	Uncertain significance	2107106158	RCV002545314;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49138825	49138825	49138825	-
NM_005051.3(QARS1):c.839A>G (p.His280Arg)	5859	QARS1	Uncertain significance	-1	RCV002286497;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49138825	49138825	49138825	-
NM_005051.3(QARS1):c.835G>A (p.Gly279Arg)	5859	QARS1	Uncertain significance	2042468435	RCV001245752;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49138829	49138829	3:g.49138829C>T	-
NM_005051.3(QARS1):c.833T>C (p.Ile278Thr)	5859	QARS1	Uncertain significance	2107106208	RCV002552247;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49138831	49138831	49138831	-
NM_005051.3(QARS1):c.832A>G (p.Ile278Val)	5859	QARS1	Uncertain significance	-1	RCV002971703;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49138832	49138832	NC_000003.11:g.49138832T>C	-
NM_005051.3(QARS1):c.828G>A (p.Leu276=)	5859	QARS1	Likely benign	547663940	RCV001450202;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49138836	49138836	NC_000003.11:g.49138836C>T	ClinGen:CA2391997	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.827T>C (p.Leu276Pro)	5859	QARS1	Uncertain significance	2042468624	RCV001344074;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49138837	49138837	49138837	-
NM_005051.3(QARS1):c.818A>G (p.Asn273Ser)	5859	QARS1	Uncertain significance	200736711	RCV001207975;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49138846	49138846	3:g.49138846T>C	-
NM_005051.3(QARS1):c.815C>G (p.Pro272Arg)	5859	QARS1	Uncertain significance	-1	RCV002589559;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49138849	49138849	NC_000003.11:g.49138849G>C	-
NM_005051.3(QARS1):c.807G>A (p.Pro269=)	5859	QARS1	Likely benign	752771374	RCV001412543;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49138857	49138857	3:g.49138857C>T	-
NM_005051.3(QARS1):c.806C>T (p.Pro269Leu)	5859	QARS1	Uncertain significance	-1	RCV002624105;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49138858	49138858	NC_000003.11:g.49138858G>A	-
NM_005051.3(QARS1):c.800G>A (p.Arg267Gln)	5859	QARS1	Uncertain significance	777675321	RCV001044950\|RCV003405243;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|	3	49138864	49138864	3:g.49138864C>T	-
NM_005051.3(QARS1):c.794G>A (p.Arg265His)	5859	QARS1	Conflicting interpretations of pathogenicity	916890735	RCV001298965;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49138870	49138870	49138870	-
NM_005051.3(QARS1):c.793C>A (p.Arg265Ser)	5859	QARS1	Uncertain significance	1559968699	RCV001060691;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49138871	49138871	3:g.49138871G>T	-
NM_005051.3(QARS1):c.793C>T (p.Arg265Cys)	5859	QARS1	Uncertain significance	1559968699	RCV002286436;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49138871	49138871	49138871	-
NM_005051.3(QARS1):c.790-10del	5859	QARS1	Benign	748134575	RCV003061772;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49138884	49138884	49138883	-
NM_005051.3(QARS1):c.790-13C>T	5859	QARS1	Likely benign	-1	RCV003018900;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49138887	49138887	NC_000003.11:g.49138887G>A	-
NM_005051.3(QARS1):c.790-14C>T	5859	QARS1	Likely benign	201610281	RCV003070644;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49138888	49138888	49138888	-
NM_005051.3(QARS1):c.790-17C>T	5859	QARS1	Likely benign	2042470074	RCV002993473;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49138891	49138891	49138891	-
NM_005051.3(QARS1):c.789+11A>G	5859	QARS1	Likely benign	-1	RCV003068483;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139042	49139042	NC_000003.11:g.49139042T>C	-
NM_005051.3(QARS1):c.787_789+3del	5859	QARS1	Likely pathogenic	-1	RCV003009995;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139050	49139055	NC_000003.11:g.49139051_49139056del	-
NM_005051.3(QARS1):c.789+1G>T	5859	QARS1	Likely pathogenic	2042472129	RCV001050256;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139052	49139052	3:g.49139052C>A	-
NM_005051.3(QARS1):c.780T>C (p.Thr260=)	5859	QARS1	Likely benign	367793549	RCV000499659\|RCV000655207\|RCV001418294;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139062	49139062	3:g.49139062A>G	ClinGen:CA2392028	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.769C>A (p.Leu257Met)	5859	QARS1	Uncertain significance	1037854666	RCV000707670\|RCV001868316;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MedGen:CN517202	3	49139073	49139073	3:g.49139073G>T	-	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.765G>A (p.Gln255=)	5859	QARS1	Likely benign	138204612	RCV001404915;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139077	49139077	49139077	-
NM_005051.3(QARS1):c.757C>T (p.Leu253=)	5859	QARS1	Likely benign	2107106936	RCV003081094;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139085	49139085	49139085	-
NM_005051.3(QARS1):c.756A>G (p.Leu252=)	5859	QARS1	Likely benign	2107106945	RCV003088992;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139086	49139086	49139086	-
NM_005051.3(QARS1):c.753T>C (p.Asn251=)	5859	QARS1	Likely benign	1290974855	RCV002561588;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139089	49139089	49139089	-
NM_005051.3(QARS1):c.741A>G (p.Pro247=)	5859	QARS1	Likely benign	779428867	RCV000655206\|RCV001445637;	N	MedGen:CN517202\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139101	49139101	3:g.49139101T>C	ClinGen:CA2392032	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.737C>T (p.Thr246Ile)	5859	QARS1	Uncertain significance	-1	RCV002573029;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139105	49139105	NC_000003.11:g.49139105G>A	-
NM_005051.3(QARS1):c.725G>A (p.Gly242Asp)	5859	QARS1	Uncertain significance	-1	RCV002653155;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139117	49139117	NC_000003.11:g.49139117C>T	-
NM_005051.3(QARS1):c.722C>T (p.Pro241Leu)	5859	QARS1	Uncertain significance	1553752233	RCV000658960\|RCV002534305;	N	MedGen:C3661900\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139120	49139120	3:g.49139120G>A	-	CN517202 not provided;
NM_005051.3(QARS1):c.720C>T (p.Thr240=)	5859	QARS1	Likely benign	143724892	RCV000655204\|RCV001428189;	N	MedGen:C3661900\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139122	49139122	3:g.49139122G>A	ClinGen:CA2392035	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.704-4G>A	5859	QARS1	Likely benign	2107107147	RCV001399142;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139142	49139142	49139142	-
NM_005051.3(QARS1):c.704-5G>T	5859	QARS1	Likely benign	775662720	RCV000655208\|RCV002525372;	N	MedGen:CN517202\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139143	49139143	3:g.49139143C>A	ClinGen:CA2392039	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.704-10G>C	5859	QARS1	Likely benign	761251190	RCV001402766;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139148	49139148	NC_000003.11:g.49139148C>G	ClinGen:CA2392040	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.704-14T>C	5859	QARS1	Likely benign	750060365	RCV002982106;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139152	49139152	49139152	-
NM_005051.3(QARS1):c.703+17A>T	5859	QARS1	Likely benign	60002662	RCV000430040\|RCV002522357;	N	MedGen:CN169374\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139244	49139244	3:g.49139244T>A	ClinGen:CA2392050	CN169374 not specified;
NM_005051.3(QARS1):c.703+15C>G	5859	QARS1	Likely benign	747697693	RCV003015371;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139246	49139246	49139246	-
NM_005051.3(QARS1):c.703+12T>C	5859	QARS1	Likely benign	769326974	RCV002982109;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139249	49139249	49139249	-
NM_005051.3(QARS1):c.703+10C>G	5859	QARS1	Likely benign	-1	RCV003076569;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139251	49139251	NC_000003.11:g.49139251G>C	-
NM_005051.3(QARS1):c.699G>T (p.Lys233Asn)	5859	QARS1	Uncertain significance	2042475313	RCV001222775;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139265	49139265	3:g.49139265C>A	-
NM_005051.3(QARS1):c.697A>C (p.Lys233Gln)	5859	QARS1	Uncertain significance	1248234116	RCV001243154\|RCV001546574;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MedGen:CN517202	3	49139267	49139267	3:g.49139267T>G	-
NM_005051.3(QARS1):c.695A>G (p.His232Arg)	5859	QARS1	Uncertain significance	2107107384	RCV002569340;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139269	49139269	49139269	-
NM_005051.3(QARS1):c.693C>T (p.Phe231=)	5859	QARS1	Likely benign	760938297	RCV000437226\|RCV002525366;	N	MedGen:CN169374\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139271	49139271	3:g.49139271G>A	ClinGen:CA2392057	CN169374 not specified;
NM_005051.3(QARS1):c.679del (p.Glu227fs)	5859	QARS1	Pathogenic	772343264	RCV001389844;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139285	49139285	49139284	-
NM_005051.3(QARS1):c.676G>C (p.Gly226Arg)	5859	QARS1	Uncertain significance	769241806	RCV001295474;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139288	49139288	49139288	-
NM_005051.3(QARS1):c.673C>T (p.Arg225Trp)	5859	QARS1	Benign	142517070	RCV000537546\|RCV001521368;	N	MedGen:C3661900\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139291	49139291	3:g.49139291G>A	ClinGen:CA2392062	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.668A>G (p.Gln223Arg)	5859	QARS1	Uncertain significance	750460731	RCV000701185;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139296	49139296	NC_000003.11:g.49139296T>C	-	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.665A>C (p.Glu222Ala)	5859	QARS1	Uncertain significance	1349950171	RCV001040122;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139299	49139299	3:g.49139299T>G	-
NM_005051.3(QARS1):c.633C>G (p.Gly211=)	5859	QARS1	Likely benign	752655908	RCV001433111;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139331	49139331	49139331	-
NM_005051.3(QARS1):c.632-10dup	5859	QARS1	Conflicting interpretations of pathogenicity	775642346	RCV000474109\|RCV000480216\|RCV001475436;	N	MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139340	49139341	NC_000003.11:g.49139342dup	ClinGen:CA2392072	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.632-8C>A	5859	QARS1	Likely benign	-1	RCV002636604;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139340	49139340	NC_000003.11:g.49139340G>T	-
NM_005051.3(QARS1):c.632-11G>T	5859	QARS1	Likely benign	-1	RCV002730813;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139343	49139343	NC_000003.11:g.49139343C>A	-
NM_005051.3(QARS1):c.632-13T>C	5859	QARS1	Likely benign	532499007	RCV000606526\|RCV002531624;	N	MedGen:CN169374\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139345	49139345	3:g.49139345A>G	ClinGen:CA2392074	CN169374 not specified;
NM_005051.3(QARS1):c.632-20C>T	5859	QARS1	Likely benign	367637023	RCV000420135\|RCV002521725;	N	MedGen:CN169374\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139352	49139352	3:g.49139352G>A	ClinGen:CA2392075	CN169374 not specified;
NM_005051.3(QARS1):c.631+7A>C	5859	QARS1	Likely benign	2042480160	RCV001451064;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139631	49139631	49139631	-
NM_005051.3(QARS1):c.631+1G>A	5859	QARS1	Likely pathogenic	1230015326	RCV002545644;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139637	49139637	49139637	-
NM_005051.3(QARS1):c.631+1G>C	5859	QARS1	Likely pathogenic	1230015326	RCV002545327;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139637	49139637	49139637	-
NM_005051.3(QARS1):c.625G>A (p.Glu209Lys)	5859	QARS1	Uncertain significance	2042480469	RCV002553666;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139644	49139644	49139644	-
NM_005051.3(QARS1):c.623T>C (p.Val208Ala)	5859	QARS1	Uncertain significance	2042480502	RCV001038206;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139646	49139646	3:g.49139646A>G	-
NM_005051.3(QARS1):c.615G>A (p.Lys205=)	5859	QARS1	Likely benign	-1	RCV003022537;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139654	49139654		-
NM_005051.3(QARS1):c.611C>T (p.Ala204Val)	5859	QARS1	Uncertain significance	911977359	RCV001371986\|RCV002550141;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MeSH:D030342,MedGen:C0950123	3	49139658	49139658	49139658	-
NM_005051.3(QARS1):c.610G>A (p.Ala204Thr)	5859	QARS1	Uncertain significance	148374607	RCV000688380\|RCV002544812;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MeSH:D030342,MedGen:C0950123	3	49139659	49139659	3:g.49139659C>T	-	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.609G>A (p.Thr203=)	5859	QARS1	Likely benign	764009927	RCV000917905\|RCV001415331;	N	MedGen:CN517202\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139660	49139660	3:g.49139660C>T	ClinGen:CA2392089	CN169374 not specified;
NM_005051.3(QARS1):c.608C>T (p.Thr203Met)	5859	QARS1	Uncertain significance	371204910	RCV001232806;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139661	49139661	3:g.49139661G>A	-
NM_005051.3(QARS1):c.602G>A (p.Arg201Gln)	5859	QARS1	Uncertain significance	192040640	RCV000523568\|RCV001315616\|RCV002528285;	N	MedGen:C3661900\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MeSH:D030342,MedGen:C0950123	3	49139667	49139667	3:g.49139667C>T	ClinGen:CA2392090	CN169374 not specified;
NM_005051.3(QARS1):c.601C>T (p.Arg201Trp)	5859	QARS1	Uncertain significance	200703354	RCV000462966\|RCV001584158;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MedGen:C3661900	3	49139668	49139668	NC_000003.11:g.49139668G>A	ClinGen:CA2392091	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.584G>A (p.Arg195Gln)	5859	QARS1	Uncertain significance	781731563	RCV002551055;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139685	49139685	49139685	-
NM_005051.3(QARS1):c.571-4T>C	5859	QARS1	Likely benign	-1	RCV002829225;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139702	49139702	NC_000003.11:g.49139702A>G	-
NM_005051.3(QARS1):c.571-8T>G	5859	QARS1	Likely benign	1460148528	RCV001479083;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139706	49139706	3:g.49139706A>C	-
NM_005051.3(QARS1):c.571-13G>A	5859	QARS1	Likely benign	-1	RCV002931829;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139711	49139711	NC_000003.11:g.49139711C>T	-
NM_005051.3(QARS1):c.571-17C>G	5859	QARS1	Uncertain significance	773560133	RCV002657734;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139715	49139715	49139715	-
NM_005051.3(QARS1):c.570+14T>C	5859	QARS1	Likely benign	-1	RCV002995279;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139838	49139838	NC_000003.11:g.49139838A>G	-
NM_005051.3(QARS1):c.570+10G>A	5859	QARS1	Likely benign	375202901	RCV001406599;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139842	49139842	49139842	-
NM_005051.3(QARS1):c.570+2_570+4dup	5859	QARS1	Uncertain significance	2107108872	RCV001363718;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139847	49139848	49139847	-
NM_005051.3(QARS1):c.570+5G>A	5859	QARS1	Uncertain significance	2107108867	RCV002561533;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139847	49139847	49139847	-
NM_005051.3(QARS1):c.570+1G>A	5859	QARS1	Likely pathogenic	2107108875	RCV002579650;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139851	49139851	49139851	-
NM_005051.3(QARS1):c.567C>T (p.Phe189=)	5859	QARS1	Likely benign	892777693	RCV001393400;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139855	49139855	49139855	-
NM_005051.3(QARS1):c.559AAG[1] (p.Lys188del)	5859	QARS1	Uncertain significance	-1	RCV002770294;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139858	49139860	NC_000003.11:g.49139860TCT[1]	-
NM_005051.3(QARS1):c.562_563inv (p.Lys188Leu)	5859	QARS1	Uncertain significance	-1	RCV003090106;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139859	49139860	NC_000003.11:g.49139859_49139860inv	-
NM_005051.3(QARS1):c.557A>G (p.Glu186Gly)	5859	QARS1	Uncertain significance	1346246672	RCV000521657\|RCV002528290;	N	MedGen:CN517202\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139865	49139865	3:g.49139865T>C	ClinGen:CA352716787	CN169374 not specified;
NM_005051.3(QARS1):c.555G>A (p.Leu185=)	5859	QARS1	Likely benign	-1	RCV003038823;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139867	49139867		-
NM_005051.3(QARS1):c.553C>A (p.Leu185Met)	5859	QARS1	Uncertain significance	-1	RCV002715992;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139869	49139869	NC_000003.11:g.49139869G>T	-
NM_005051.3(QARS1):c.552T>C (p.Asp184=)	5859	QARS1	Likely benign	-1	RCV002741800;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139870	49139870		-
NM_005051.3(QARS1):c.539A>G (p.Lys180Arg)	5859	QARS1	Uncertain significance	1052975324	RCV002545650;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139883	49139883	49139883	-
NM_005051.3(QARS1):c.522C>T (p.Leu174=)	5859	QARS1	Likely benign	778151037	RCV002552366;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139900	49139900	49139900	-
NM_005051.3(QARS1):c.518T>G (p.Val173Gly)	5859	QARS1	Uncertain significance	2107109072	RCV001359584;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49139904	49139904	49139904	-
NM_005051.3(QARS1):c.516+13C>A	5859	QARS1	Likely benign	754227489	RCV000439215\|RCV002521777;	N	MedGen:CN169374\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49140765	49140765	3:g.49140765G>T	ClinGen:CA2392136	CN169374 not specified;
NM_005051.3(QARS1):c.516+7G>A	5859	QARS1	Likely benign	1242336173	RCV002560786;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49140771	49140771	49140771	-
NM_005051.3(QARS1):c.514C>T (p.Gln172Ter)	5859	QARS1	Pathogenic	2107111037	RCV002569142;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49140780	49140780	49140780	-
NM_005051.3(QARS1):c.513G>A (p.Met171Ile)	5859	QARS1	Uncertain significance	1158546093	RCV001326778;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49140781	49140781	49140781	-
NM_005051.3(QARS1):c.511A>G (p.Met171Val)	5859	QARS1	Uncertain significance	2107111057	RCV002551213;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49140783	49140783	49140783	-
NM_005051.3(QARS1):c.495C>T (p.Ile165=)	5859	QARS1	Likely benign	375725197	RCV000423541\|RCV001486568;	N	MedGen:CN169374\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49140799	49140799	3:g.49140799G>A	ClinGen:CA2392142	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.487A>G (p.Lys163Glu)	5859	QARS1	Conflicting interpretations of pathogenicity	1398173228	RCV000520099\|RCV001339210;	N	MedGen:CN517202\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49140807	49140807	3:g.49140807T>C	ClinGen:CA352718660	CN169374 not specified;
NM_005051.3(QARS1):c.477G>A (p.Trp159Ter)	5859	QARS1	Pathogenic/Likely pathogenic	776344968	RCV001265598;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49140817	49140817	3:g.49140817C>T	-
NM_005051.3(QARS1):c.471G>C (p.Leu157=)	5859	QARS1	Likely benign	1337917654	RCV001448759;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49140823	49140823	49140823	-
NM_005051.3(QARS1):c.471G>A (p.Leu157=)	5859	QARS1	Likely benign	-1	RCV002819167;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49140823	49140823		-
NM_005051.3(QARS1):c.469C>T (p.Leu157=)	5859	QARS1	Likely benign	1382502921	RCV001399545;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49140825	49140825	49140825	-
NM_005051.3(QARS1):c.461G>A (p.Arg154Gln)	5859	QARS1	Uncertain significance	201032950	RCV001247979\|RCV001557667\|RCV003246816;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	3	49140833	49140833	3:g.49140833C>T	-
NM_005051.3(QARS1):c.460C>T (p.Arg154Trp)	5859	QARS1	Uncertain significance	766000850	RCV001232355;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49140834	49140834	3:g.49140834G>A	-
NM_005051.3(QARS1):c.455A>C (p.Glu152Ala)	5859	QARS1	Uncertain significance	2042496370	RCV002560525;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49140839	49140839	49140839	-
NM_005051.3(QARS1):c.452-4C>A	5859	QARS1	Likely benign	759329857	RCV001047935;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49140846	49140846	3:g.49140846G>T	-
NM_005051.3(QARS1):c.452-7C>T	5859	QARS1	Likely benign	767186986	RCV001466610;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49140849	49140849	3:g.49140849G>A	-
NM_005051.3(QARS1):c.452-8G>A	5859	QARS1	Likely benign	1408295828	RCV001432851;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49140850	49140850	3:g.49140850C>T	-
NM_005051.3(QARS1):c.452-8G>T	5859	QARS1	Likely benign	1408295828	RCV001499108;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49140850	49140850	49140850	-
NM_005051.3(QARS1):c.452-10A>G	5859	QARS1	Likely benign	754207465	RCV000428358\|RCV002522609;	N	MedGen:CN169374\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49140852	49140852	3:g.49140852T>C	ClinGen:CA2392153	CN169374 not specified;
NM_005051.3(QARS1):c.452-13C>T	5859	QARS1	Uncertain significance	-1	RCV002966805;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49140855	49140855	NC_000003.11:g.49140855G>A	-
NM_005051.3(QARS1):c.452-20C>T	5859	QARS1	Likely benign	1001075230	RCV002551241;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49140862	49140862	49140862	-
NM_005051.3(QARS1):c.451+19G>A	5859	QARS1	Likely benign	369141824	RCV000441939\|RCV002521639;	N	MedGen:CN169374\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141045	49141045	3:g.49141045C>T	ClinGen:CA2392166	CN169374 not specified;
NM_005051.3(QARS1):c.451+18C>T	5859	QARS1	Likely benign	202145473	RCV000435775\|RCV001465689;	N	MedGen:CN169374\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141046	49141046	3:g.49141046G>A	ClinGen:CA2392167	CN169374 not specified;
NM_005051.3(QARS1):c.451+15G>T	5859	QARS1	Likely benign	-1	RCV002819153;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141049	49141049	NC_000003.11:g.49141049C>A	-
NM_005051.3(QARS1):c.451+11C>T	5859	QARS1	Likely benign	1222502699	RCV003025391;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141053	49141053	49141053	-
NM_005051.3(QARS1):c.451+10G>A	5859	QARS1	Likely benign	-1	RCV003081587;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141054	49141054	NC_000003.11:g.49141054C>T	-
NM_005051.3(QARS1):c.451+5G>C	5859	QARS1	Uncertain significance	376304606	RCV001219100;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141059	49141059	3:g.49141059C>G	-
NM_005051.3(QARS1):c.451+4A>C	5859	QARS1	Uncertain significance	370688039	RCV000523397\|RCV001205470;	N	MedGen:CN517202\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141060	49141060	3:g.49141060T>G	ClinGen:CA2392171	CN169374 not specified;
NM_005051.3(QARS1):c.441del (p.Leu148fs)	5859	QARS1	Pathogenic	2107111718	RCV002545414;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141074	49141074	49141073	-
NM_005051.3(QARS1):c.425dup (p.Tyr142Ter)	5859	QARS1	Pathogenic	2042500119	RCV001230976;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141089	49141090	3:g.49141089_49141090insT	-
NM_005051.3(QARS1):c.425A>T (p.Tyr142Phe)	5859	QARS1	Uncertain significance	-1	RCV002853297;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141090	49141090	NC_000003.11:g.49141090T>A	-
NM_005051.3(QARS1):c.422G>A (p.Arg141His)	5859	QARS1	Uncertain significance	1293633518	RCV001366930;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141093	49141093	49141093	-
NM_005051.3(QARS1):c.421C>T (p.Arg141Cys)	5859	QARS1	Uncertain significance	765585957	RCV002548764;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141094	49141094	49141094	-
NM_005051.3(QARS1):c.419A>G (p.Glu140Gly)	5859	QARS1	Uncertain significance	750778308	RCV001756342\|RCV002538739;	N	MedGen:C3661900\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141096	49141096	49141096	-
NM_005051.3(QARS1):c.418G>C (p.Glu140Gln)	5859	QARS1	Uncertain significance	896454620	RCV001056062;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141097	49141097	3:g.49141097C>G	-
NM_005051.3(QARS1):c.417G>A (p.Val139=)	5859	QARS1	Likely benign	758959179	RCV001408089;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141098	49141098	49141098	-
NM_005051.3(QARS1):c.414G>A (p.Leu138=)	5859	QARS1	Likely benign	-1	RCV002852272;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141101	49141101		-
NM_005051.3(QARS1):c.411C>G (p.Leu137=)	5859	QARS1	Likely benign	-1	RCV002937058;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141104	49141104		-
NM_005051.3(QARS1):c.408G>A (p.Gln136=)	5859	QARS1	Likely benign	766846621	RCV003107964;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141107	49141107	49141107	-
NM_005051.3(QARS1):c.406del (p.Gln136fs)	5859	QARS1	Pathogenic	-1	RCV002647438;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141109	49141109	NC_000003.11:g.49141112del	-
NM_005051.3(QARS1):c.405C>T (p.Pro135=)	5859	QARS1	Likely benign	1559970173	RCV003025445;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141110	49141110	49141110	-
NM_005051.3(QARS1):c.400C>T (p.Arg134Trp)	5859	QARS1	Uncertain significance	142831772	RCV001052794\|RCV002462290;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MedGen:CN517202	3	49141115	49141115	3:g.49141115G>A	-
NM_005051.3(QARS1):c.399C>T (p.His133=)	5859	QARS1	Benign	5030795	RCV000444678\|RCV001511072;	N	MedGen:CN169374\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141116	49141116	3:g.49141116G>A	ClinGen:CA2392181	CN169374 not specified;
NM_005051.3(QARS1):c.395G>C (p.Arg132Thr)	5859	QARS1	Conflicting interpretations of pathogenicity	530494890	RCV000459703\|RCV001501292\|RCV003168904;	N	MedGen:CN517202\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MeSH:D030342,MedGen:C0950123	3	49141120	49141120	NC_000003.11:g.49141120C>G	ClinGen:CA2392182	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.388A>G (p.Ile130Val)	5859	QARS1	Uncertain significance	777778390	RCV003107878;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141127	49141127	49141127	-
NM_005051.3(QARS1):c.384T>C (p.Ala128=)	5859	QARS1	Likely benign	2107111944	RCV002562247;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141131	49141131	49141131	-
NM_005051.3(QARS1):c.377T>C (p.Val126Ala)	5859	QARS1	Uncertain significance	749082327	RCV002550393;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141138	49141138	49141138	-
NM_005051.3(QARS1):c.376-1G>A	5859	QARS1	Likely pathogenic	2107112006	RCV002625361;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141140	49141140	49141140	-
NM_005051.3(QARS1):c.376-10C>T	5859	QARS1	Likely benign	771043693	RCV001474085;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141149	49141149	49141149	-
NM_005051.3(QARS1):c.376-20C>T	5859	QARS1	Likely benign	2107112057	RCV003025473;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141159	49141159	49141159	-
NM_005051.3(QARS1):c.372G>A (p.Glu124=)	5859	QARS1	Likely benign	-1	RCV002746086;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141299	49141299		-
NM_005051.3(QARS1):c.352del (p.Thr118fs)	5859	QARS1	Pathogenic	-1	RCV003003212;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141319	49141319	NC_000003.11:g.49141319del	-
NM_005051.3(QARS1):c.346A>G (p.Ile116Val)	5859	QARS1	Uncertain significance	-1	RCV002908763\|RCV003228101;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MedGen:CN517202	3	49141325	49141325	NC_000003.11:g.49141325T>C	-
NM_005051.3(QARS1):c.337G>A (p.Val113Met)	5859	QARS1	Uncertain significance	767616063	RCV001055282\|RCV001508145;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MedGen:CN517202	3	49141334	49141334	3:g.49141334C>T	-
NM_005051.3(QARS1):c.337G>C (p.Val113Leu)	5859	QARS1	Uncertain significance	767616063	RCV002560681;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141334	49141334	49141334	-
NM_005051.3(QARS1):c.336C>T (p.Gly112=)	5859	QARS1	Likely benign	-1	RCV003007397;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141335	49141335		-
NM_005051.3(QARS1):c.321C>A (p.Phe107Leu)	5859	QARS1	Uncertain significance	201359259	RCV001349447\|RCV001814309;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MedGen:CN517202	3	49141350	49141350	49141350	-
NM_005051.3(QARS1):c.321C>T (p.Phe107=)	5859	QARS1	Likely benign	201359259	RCV001397012;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141350	49141350	49141350	-
NM_005051.3(QARS1):c.319T>C (p.Phe107Leu)	5859	QARS1	Uncertain significance	-1	RCV003078138;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141352	49141352	NC_000003.11:g.49141352A>G	-
NM_005051.3(QARS1):c.316G>A (p.Asp106Asn)	5859	QARS1	Uncertain significance	141983717	RCV000461879\|RCV000498066\|RCV002227163;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MedGen:C3661900\|Human Phenotype Ontology:HP:0000754,Human Phenotype Ontology:HP:0001255,Human Phenotype Ontology:HP:0001263,Human Phenotype Ontology:HP:0001277,Human Phenotype Ontology:HP:0	3	49141355	49141355	NC_000003.11:g.49141355C>T	ClinGen:CA2392217	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.315G>A (p.Val105=)	5859	QARS1	Likely benign	2107112640	RCV002552234;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141356	49141356	49141356	-
NM_005051.3(QARS1):c.306C>T (p.Ile102=)	5859	QARS1	Likely benign	752872267	RCV003033322;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141365	49141365	49141365	-
NM_005051.3(QARS1):c.297G>C (p.Leu99Phe)	5859	QARS1	Uncertain significance	147794116	RCV000489200\|RCV000536631;	N	MedGen:CN517202\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141374	49141374	3:g.49141374C>G	ClinGen:CA2392222	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.296T>C (p.Leu99Ser)	5859	QARS1	Uncertain significance	2107112761	RCV001369690;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141375	49141375	49141375	-
NM_005051.3(QARS1):c.295T>C (p.Leu99=)	5859	QARS1	Likely benign	754138545	RCV000428120\|RCV001468075;	N	MedGen:CN169374\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141376	49141376	3:g.49141376A>G	ClinGen:CA2392223	CN169374 not specified;
NM_005051.3(QARS1):c.282G>A (p.Val94=)	5859	QARS1	Likely benign	189971021	RCV001448254;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141389	49141389	49141389	-
NM_005051.3(QARS1):c.277T>C (p.Tyr93His)	5859	QARS1	Uncertain significance	1205366710	RCV001342492;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141394	49141394	49141394	-
NM_005051.3(QARS1):c.274G>C (p.Glu92Gln)	5859	QARS1	Uncertain significance	201997520	RCV002551029;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141397	49141397	49141397	-
NM_005051.3(QARS1):c.270C>T (p.Ala90=)	5859	QARS1	Likely benign	2042505160	RCV001421133;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141401	49141401	49141401	-
NM_005051.3(QARS1):c.266-9_266-6del	5859	QARS1	Uncertain significance	-1	RCV003089798;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141411	49141414	NC_000003.11:g.49141411AAGA[1]	-
NM_005051.3(QARS1):c.266-15G>A	5859	QARS1	Likely benign	761737038	RCV000429182\|RCV002525332;	N	MedGen:CN169374\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141420	49141420	3:g.49141420C>T	ClinGen:CA2392229	CN169374 not specified;
NM_005051.3(QARS1):c.266-17G>A	5859	QARS1	Conflicting interpretations of pathogenicity	1057523447	RCV000430885\|RCV002525441;	N	MedGen:CN169374\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141422	49141422	3:g.49141422C>T	ClinGen:CA16604977	CN169374 not specified;
NM_005051.3(QARS1):c.266-18C>G	5859	QARS1	Likely benign	965125528	RCV003025469;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141423	49141423	49141423	-
NM_005051.3(QARS1):c.266-18C>T	5859	QARS1	Likely benign	965125528	RCV002553684;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141423	49141423	49141423	-
NM_005051.3(QARS1):c.266-20C>G	5859	QARS1	Likely benign	2107112964	RCV002561644;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141425	49141425	49141425	-
NM_005051.3(QARS1):c.265+19C>T	5859	QARS1	Likely benign	1297129770	RCV002553024;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141738	49141738	49141738	-
NM_005051.3(QARS1):c.265+10C>T	5859	QARS1	Likely benign	2107113755	RCV001466375;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141747	49141747	49141747	-
NM_005051.3(QARS1):c.265+7C>A	5859	QARS1	Likely benign	763169989	RCV001400332;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141750	49141750	49141750	-
NM_005051.3(QARS1):c.264C>A (p.Ser88Arg)	5859	QARS1	Uncertain significance	1483058377	RCV001299523;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141758	49141758	49141758	-
NM_005051.3(QARS1):c.256del (p.Gln86fs)	5859	QARS1	Pathogenic	2042510074	RCV001239582;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141766	49141766	3:g.49141766_49141766del	-
NM_005051.3(QARS1):c.253C>T (p.Pro85Ser)	5859	QARS1	Uncertain significance	1264945460	RCV002556330;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141769	49141769	49141769	-
NM_005051.3(QARS1):c.253C>A (p.Pro85Thr)	5859	QARS1	Uncertain significance	1264945460	RCV002545508;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141769	49141769	49141769	-
NM_005051.3(QARS1):c.252_253insAAG (p.Glu84_Pro85insLys)	5859	QARS1	Uncertain significance	2042510195	RCV002563588;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141769	49141770	49141769	-
NM_005051.3(QARS1):c.250G>A (p.Glu84Lys)	5859	QARS1	Uncertain significance	2042510296	RCV002553555;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141772	49141772	49141772	-
NM_005051.3(QARS1):c.248C>T (p.Thr83Ile)	5859	QARS1	Uncertain significance	2042510350	RCV001067955;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141774	49141774	3:g.49141774G>A	-
NM_005051.3(QARS1):c.243C>T (p.Ile81=)	5859	QARS1	Likely benign	754974684	RCV000418593\|RCV002522494;	N	MedGen:CN169374\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141779	49141779	3:g.49141779G>A	ClinGen:CA16604979	CN169374 not specified;
NM_005051.3(QARS1):c.243C>A (p.Ile81=)	5859	QARS1	Likely benign	-1	RCV003108362;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141779	49141779		-
NM_005051.3(QARS1):c.232A>G (p.Ser78Gly)	5859	QARS1	Uncertain significance	767410688	RCV001039144;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141790	49141790	3:g.49141790T>C	-
NM_005051.3(QARS1):c.229G>A (p.Ala77Thr)	5859	QARS1	Likely benign	752251563	RCV001401405;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141793	49141793	3:g.49141793C>T	-
NM_005051.3(QARS1):c.226A>G (p.Ile76Val)	5859	QARS1	Uncertain significance	755600734	RCV002642032;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141796	49141796	49141796	-
NM_005051.3(QARS1):c.224A>G (p.Tyr75Cys)	5859	QARS1	Uncertain significance	2042510780	RCV001212974;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141798	49141798	3:g.49141798T>C	-
NM_005051.3(QARS1):c.214C>T (p.Leu72Phe)	5859	QARS1	Uncertain significance	1362208293	RCV001224111;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141808	49141808	3:g.49141808G>A	-
NM_005051.3(QARS1):c.209C>T (p.Ser70Phe)	5859	QARS1	Uncertain significance	748894610	RCV001225022;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141813	49141813	3:g.49141813G>A	-
NM_005051.3(QARS1):c.207C>T (p.Leu69=)	5859	QARS1	Likely benign	1267599526	RCV003081001;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141815	49141815	49141815	-
NM_005051.3(QARS1):c.205C>T (p.Leu69Phe)	5859	QARS1	Uncertain significance	1223986953	RCV001070309;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141817	49141817	3:g.49141817G>A	-
NM_005051.3(QARS1):c.202C>G (p.Arg68Gly)	5859	QARS1	Uncertain significance	-1	RCV002842062;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141820	49141820	NC_000003.11:g.49141820G>C	-
NM_005051.3(QARS1):c.200G>A (p.Arg67Gln)	5859	QARS1	Uncertain significance	1575404377	RCV002547938;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141822	49141822	49141822	-
NM_005051.3(QARS1):c.199C>G (p.Arg67Gly)	5859	QARS1	Uncertain significance	780618692	RCV002592527;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141823	49141823	49141823	-
NM_005051.3(QARS1):c.187C>G (p.Leu63Val)	5859	QARS1	Uncertain significance	540260992	RCV002561563;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141835	49141835	49141835	-
NM_005051.3(QARS1):c.184C>T (p.Arg62Ter)	5859	QARS1	Pathogenic	2042511461	RCV002552303;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141838	49141838	49141838	-
NM_005051.3(QARS1):c.184C>G (p.Arg62Gly)	5859	QARS1	Uncertain significance	-1	RCV003333613;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141838	49141838		-
NM_005051.3(QARS1):c.183C>T (p.Ser61=)	5859	QARS1	Likely benign	2107114186	RCV001492066;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141839	49141839	49141839	-
NM_005051.3(QARS1):c.177G>A (p.Leu59=)	5859	QARS1	Likely benign	748629167	RCV001361468;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141845	49141845	49141845	-
NM_005051.3(QARS1):c.169T>C (p.Tyr57His)	5859	QARS1	Pathogenic	587777333	RCV000114974;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141853	49141853	3:g.49141853A>G	ClinGen:CA214475,UniProtKB:P47897#VAR_071190,OMIM:603727.0003	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.163C>T (p.Leu55=)	5859	QARS1	Benign	58012546	RCV000433012\|RCV001511167\|RCV003437176;	N	MedGen:CN169374\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MedGen:C3661900	3	49141859	49141859	3:g.49141859G>A	ClinGen:CA2392282	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.159G>A (p.Gly53=)	5859	QARS1	Likely benign	-1	RCV002796605;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141863	49141863		-
NM_005051.3(QARS1):c.156C>T (p.Thr52=)	5859	QARS1	Likely benign	-1	RCV002574965;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141866	49141866		-
NM_005051.3(QARS1):c.155C>T (p.Thr52Ile)	5859	QARS1	Uncertain significance	371410194	RCV002579555;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141867	49141867	49141867	-
NM_005051.3(QARS1):c.143T>C (p.Ile48Thr)	5859	QARS1	Uncertain significance	201397059	RCV000705908\|RCV001585658\|RCV002536404;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	3	49141879	49141879	NC_000003.11:g.49141879A>G	-	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.140C>T (p.Thr47Ile)	5859	QARS1	Uncertain significance	1342775742	RCV001327504\|RCV003284204;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MeSH:D030342,MedGen:C0950123	3	49141882	49141882	49141882	-
NM_005051.3(QARS1):c.138C>T (p.Ser46=)	5859	QARS1	Likely benign	1559970939	RCV002552362;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141884	49141884	49141884	-
NM_005051.3(QARS1):c.135T>C (p.Gly45=)	5859	QARS1	Likely benign	-1	RCV003042818;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141887	49141887		-
NM_005051.3(QARS1):c.134G>T (p.Gly45Val)	5859	QARS1	Pathogenic/Likely pathogenic	587777331	RCV000114972\|RCV000494584\|RCV003415881;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MedGen:C3661900\|	3	49141888	49141888	3:g.49141888C>A	UniProtKB:P47897#VAR_071189,OMIM:603727.0001,ClinGen:CA214473	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.131T>C (p.Leu44Pro)	5859	QARS1	Uncertain significance	1559970954	RCV000698883;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141891	49141891	NC_000003.11:g.49141891A>G	-	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.128C>G (p.Thr43Ser)	5859	QARS1	Uncertain significance	550717519	RCV001217171\|RCV002254956;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MedGen:CN517202	3	49141894	49141894	3:g.49141894G>C	-
NM_005051.3(QARS1):c.125A>C (p.Gln42Pro)	5859	QARS1	Uncertain significance	546520104	RCV000655198\|RCV001855344;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MedGen:C3661900	3	49141897	49141897	3:g.49141897T>G	ClinGen:CA2392290	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.118-3C>T	5859	QARS1	Uncertain significance	-1	RCV002994062;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141907	49141907	NC_000003.11:g.49141907G>A	-
NM_005051.3(QARS1):c.118-5C>T	5859	QARS1	Likely benign	778689182	RCV000418741\|RCV001393018;	N	MedGen:CN169374\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141909	49141909	3:g.49141909G>A	ClinGen:CA2392292	CN169374 not specified;
NM_005051.3(QARS1):c.118-12del	5859	QARS1	Benign	-1	RCV003064955;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141916	49141916	NC_000003.11:g.49141919del	-
NM_005051.3(QARS1):c.118-13C>T	5859	QARS1	Likely benign	-1	RCV003064956;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141917	49141917	NC_000003.11:g.49141917G>A	-
NM_005051.3(QARS1):c.118-15C>T	5859	QARS1	Likely benign	748618405	RCV003025491;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141919	49141919	49141919	-
NM_005051.3(QARS1):c.118-20C>T	5859	QARS1	Likely benign	770321868	RCV001569226\|RCV002573207;	N	MedGen:C3661900\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141924	49141924	49141924	-
NM_005051.3(QARS1):c.118-20C>G	5859	QARS1	Likely benign	770321868	RCV002561581;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141924	49141924	49141924	-
NM_005051.3(QARS1):c.118-20C>A	5859	QARS1	Likely benign	-1	RCV002628880;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49141924	49141924	NC_000003.11:g.49141924G>T	-
NM_005051.3(QARS1):c.117+20_117+21delinsGA	5859	QARS1	Likely benign	2107114770	RCV003015246;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49142029	49142030	49142029	-
NM_005051.3(QARS1):c.117+17C>T	5859	QARS1	Benign/Likely benign	202012811	RCV000429626\|RCV001197406\|RCV002525354;	N	MedGen:CN169374\|\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49142033	49142033	3:g.49142033G>A	ClinGen:CA2392313	CN169374 not specified;
NM_005051.3(QARS1):c.117+16C>T	5859	QARS1	Likely benign	2107114792	RCV003088998;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49142034	49142034	49142034	-
NM_005051.3(QARS1):c.117+15G>A	5859	QARS1	Likely benign	-1	RCV002633448;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49142035	49142035	NC_000003.11:g.49142035C>T	-
NM_005051.3(QARS1):c.117+11C>T	5859	QARS1	Likely benign	-1	RCV002918267;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49142039	49142039	NC_000003.11:g.49142039G>A	-
NM_005051.3(QARS1):c.117+8C>A	5859	QARS1	Likely benign	-1	RCV002922164;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49142042	49142042	NC_000003.11:g.49142042G>T	-
NM_005051.3(QARS1):c.117+7G>A	5859	QARS1	Likely benign	2042515687	RCV001433353;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49142043	49142043	49142043	-
NM_005051.3(QARS1):c.117+6A>C	5859	QARS1	Uncertain significance	1397101113	RCV002555322;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49142044	49142044	49142044	-
NM_005051.3(QARS1):c.117+5G>A	5859	QARS1	Uncertain significance	151099269	RCV000655200\|RCV001577835;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MedGen:C3661900	3	49142045	49142045	3:g.49142045C>T	ClinGen:CA2392318	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.117+4C>T	5859	QARS1	Uncertain significance	749708983	RCV000226554;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49142046	49142046	3:g.49142046G>A	ClinGen:CA2392319	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.117+4C>G	5859	QARS1	Uncertain significance	749708983	RCV002552885;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49142046	49142046	49142046	-
NM_005051.3(QARS1):c.107C>T (p.Ala36Val)	5859	QARS1	Uncertain significance	1575404644	RCV001221097\|RCV002254957;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MedGen:CN517202	3	49142060	49142060	3:g.49142060G>A	-
NM_005051.3(QARS1):c.107C>G (p.Ala36Gly)	5859	QARS1	Uncertain significance	1575404644	RCV001202373;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49142060	49142060	3:g.49142060G>C	-
NM_005051.3(QARS1):c.101G>C (p.Arg34Pro)	5859	QARS1	Uncertain significance	1261477095	RCV001064941;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49142066	49142066	3:g.49142066C>G	-
NM_005051.3(QARS1):c.96_97delinsAA (p.Leu33Met)	5859	QARS1	Uncertain significance	2107114987	RCV002562963;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49142070	49142071	49142070	-
NM_005051.3(QARS1):c.96G>T (p.Gln32His)	5859	QARS1	Uncertain significance	201606430	RCV002547976;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49142071	49142071	49142071	-
NM_005051.3(QARS1):c.93G>A (p.Ala31=)	5859	QARS1	Likely benign	768289723	RCV000430309\|RCV001499168;	N	MedGen:CN169374\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49142074	49142074	3:g.49142074C>T	ClinGen:CA2392326	CN169374 not specified;
NM_005051.3(QARS1):c.92C>T (p.Ala31Val)	5859	QARS1	Uncertain significance	371969519	RCV001061754;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49142075	49142075	3:g.49142075G>A	-
NM_005051.3(QARS1):c.90C>G (p.Ser30Arg)	5859	QARS1	Uncertain significance	1221014964	RCV001223367;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49142077	49142077	3:g.49142077G>C	-
NM_005051.3(QARS1):c.90C>A (p.Ser30Arg)	5859	QARS1	Uncertain significance	1221014964	RCV001226875;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49142077	49142077	3:g.49142077G>T	-
NM_005051.3(QARS1):c.84T>C (p.Ala28=)	5859	QARS1	Likely benign	2107115030	RCV001492956;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49142083	49142083	49142083	-
NM_005051.3(QARS1):c.83C>A (p.Ala28Asp)	5859	QARS1	Uncertain significance	148998142	RCV000526038\|RCV001547476;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MedGen:C3661900	3	49142084	49142084	3:g.49142084G>T	ClinGen:CA2392328	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.72C>G (p.Leu24=)	5859	QARS1	Likely benign	2042516875	RCV003033298;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49142095	49142095	49142095	-
NM_005051.3(QARS1):c.64G>A (p.Glu22Lys)	5859	QARS1	Uncertain significance	2042517058	RCV001374313;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49142103	49142103	49142103	-
NM_005051.3(QARS1):c.61C>A (p.Arg21Ser)	5859	QARS1	Uncertain significance	-1	RCV003024906;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49142106	49142106	NC_000003.11:g.49142106G>T	-
NM_005051.3(QARS1):c.55_57del (p.Lys19del)	5859	QARS1	Uncertain significance	1170759657	RCV000522052\|RCV001372292;	N	MedGen:CN517202\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49142110	49142112	NC_000003.11:g.49142112_49142114del	ClinGen:CA543047984	CN169374 not specified;
NM_005051.3(QARS1):c.45G>C (p.Leu15=)	5859	QARS1	Likely benign	756522994	RCV000609308\|RCV001435042;	N	MedGen:CN169374\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49142122	49142122	3:g.49142122C>G	ClinGen:CA2392334	CN169374 not specified;
NM_005051.3(QARS1):c.40G>A (p.Gly14Ser)	5859	QARS1	Uncertain significance	1553752741	RCV000624033\|RCV002531887;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49142127	49142127	NC_000003.11:g.49142127C>T	ClinGen:CA352724141	C0950123 Inborn genetic diseases;
NM_005051.3(QARS1):c.35G>A (p.Ser12Asn)	5859	QARS1	Uncertain significance	1333683203	RCV001324658;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49142132	49142132	49142132	-
NM_005051.3(QARS1):c.33T>C (p.Thr11=)	5859	QARS1	Likely benign	-1	RCV003114774;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49142134	49142134		-
NM_005051.3(QARS1):c.32C>G (p.Thr11Ser)	5859	QARS1	Uncertain significance	1461865905	RCV001341517;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49142135	49142135	49142135	-
NM_005051.3(QARS1):c.31A>G (p.Thr11Ala)	5859	QARS1	Uncertain significance	2042517964	RCV002569227;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49142136	49142136	49142136	-
NM_005051.3(QARS1):c.30C>T (p.Phe10=)	5859	QARS1	Uncertain significance	-1	RCV003042342;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49142137	49142137		-
NM_005051.3(QARS1):c.25C>A (p.Leu9Ile)	5859	QARS1	Conflicting interpretations of pathogenicity	62621067	RCV000456406\|RCV001522612;	N	MedGen:C3661900\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49142142	49142142	3:g.49142142G>T	ClinGen:CA2392339	C4014239 615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;
NM_005051.3(QARS1):c.25C>G (p.Leu9Val)	5859	QARS1	Uncertain significance	62621067	RCV002560683;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49142142	49142142	49142142	-
NM_005051.3(QARS1):c.23C>T (p.Ser8Leu)	5859	QARS1	Uncertain significance	773096335	RCV001227929\|RCV003259178;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MeSH:D030342,MedGen:C0950123	3	49142144	49142144	3:g.49142144G>A	-
NM_005051.3(QARS1):c.21G>A (p.Leu7=)	5859	QARS1	Likely benign	2107115428	RCV001409740\|RCV003438774;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MedGen:C3661900	3	49142146	49142146	49142146	-
NM_005051.3(QARS1):c.19C>T (p.Leu7=)	5859	QARS1	Likely benign	758656563	RCV001456163;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49142148	49142148	49142148	-
NM_005051.3(QARS1):c.18C>T (p.Ser6=)	5859	QARS1	Likely benign	780349624	RCV003088990;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49142149	49142149	49142149	-
NM_005051.3(QARS1):c.17C>T (p.Ser6Phe)	5859	QARS1	Uncertain significance	2107115484	RCV001562199\|RCV002570734;	N	MedGen:C3661900\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49142150	49142150	49142150	-
NM_005051.3(QARS1):c.15C>T (p.Asp5=)	5859	QARS1	Likely benign	1204792104	RCV003070599;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49142152	49142152	49142152	-
NM_005051.3(QARS1):c.12A>G (p.Leu4=)	5859	QARS1	Likely benign	1253715637	RCV001449153;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49142155	49142155	3:g.49142155T>C	-
NM_005051.3(QARS1):c.10C>G (p.Leu4Val)	5859	QARS1	Uncertain significance	-1	RCV003074711;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49142157	49142157	NC_000003.11:g.49142157G>C	-
NM_005051.3(QARS1):c.10C>T (p.Leu4=)	5859	QARS1	Likely benign	-1	RCV002943700;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49142157	49142157		-
NM_005051.3(QARS1):c.9T>C (p.Ala3=)	5859	QARS1	Likely benign	776233744	RCV000421877\|RCV001471438;	N	MedGen:CN169374\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49142158	49142158	3:g.49142158A>G	ClinGen:CA2392345	CN169374 not specified;
NM_005051.3(QARS1):c.8C>T (p.Ala3Val)	5859	QARS1	Uncertain significance	748155291	RCV001056274;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49142159	49142159	3:g.49142159G>A	-
NM_005051.3(QARS1):c.6G>T (p.Ala2=)	5859	QARS1	Likely benign	1575404829	RCV001425276;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49142161	49142161	3:g.49142161C>A	-
NM_005051.3(QARS1):c.5C>A (p.Ala2Glu)	5859	QARS1	Uncertain significance	-1	RCV002774957;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49142162	49142162	NC_000003.11:g.49142162G>T	-
NM_005051.3(QARS1):c.4G>A (p.Ala2Thr)	5859	QARS1	Uncertain significance	1375795727	RCV001212291\|RCV002561783;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437\|MeSH:D030342,MedGen:C0950123	3	49142163	49142163	3:g.49142163C>T	-
NM_005051.3(QARS1):c.3G>A (p.Met1Ile)	5859	QARS1	Pathogenic	-1	RCV002851205;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49142164	49142164	NC_000003.11:g.49142164C>T	-
NM_005051.3(QARS1):c.2T>C (p.Met1Thr)	5859	QARS1	Pathogenic	2042518770	RCV001231975;	N	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760, Orphanet:404437	3	49142165	49142165	3:g.49142165A>G	-

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