Qars Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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1001 records found for search term Qars

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8630874	CV86029	single nucleotide variant	NM_005051.2(QARS):c.1397C>T (p.Ser466Phe)	Malignant melanoma [RCV000066113]	not provided	3	49099639	49099639	Human		name
12833564	CV367665	single nucleotide variant	NM_005051.3(QARS1):c.-21T>C	not provided [RCV004711086]\|not specified [RCV000418754]	likely benign	3	49104754	49104754	Human		name
12842962	CV367666	single nucleotide variant	NM_005051.2(QARS1):c.-32C>A	not specified [RCV000435370]	likely benign	3	49104765	49104765	Human		name
13539007	CV500793	single nucleotide variant	NM_005051.3(QARS1):c.-20T>C	not specified [RCV000612677]	likely benign	3	49104753	49104753	Human		name
127247496	CV1071022	single nucleotide variant	NM_005051.3(QARS1):c.704-4G>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001399142]	likely benign	3	49101709	49101709	Human	1	name
127252344	CV1071028	single nucleotide variant	NM_005051.3(QARS1):c.265+7C>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001400332]	likely benign	3	49104317	49104317	Human	1	name
127236498	CV1092682	single nucleotide variant	NM_005051.3(QARS1):c.117+7G>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001433353]	likely benign	3	49104610	49104610	Human	1	name
127289995	CV1114192	single nucleotide variant	NM_005051.3(QARS1):c.631+7A>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001451064]	likely benign	3	49102198	49102198	Human	1	name
127302581	CV1135084	single nucleotide variant	NM_005051.3(QARS1):c.452-8G>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001499108]	likely benign	3	49103417	49103417	Human	1	name
151784507	CV1344703	single nucleotide variant	NM_005051.3(QARS1):c.376-1G>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002625361]	likely pathogenic	3	49103707	49103707	Human	1	name
151715714	CV1392804	single nucleotide variant	NM_005051.3(QARS1):c.117+6A>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002555322]	uncertain significance	3	49104611	49104611	Human	1	name
151764192	CV1447623	single nucleotide variant	NM_005051.3(QARS1):c.117+4C>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002552885]	uncertain significance	3	49104613	49104613	Human	1	name
151831969	CV1459571	single nucleotide variant	NM_005051.3(QARS1):c.631+1G>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002545644]	likely pathogenic	3	49102204	49102204	Human	1	name
151735389	CV1465790	single nucleotide variant	NM_005051.3(QARS1):c.631+1G>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002545327]	likely pathogenic	3	49102204	49102204	Human	1	name
151768696	CV1471751	single nucleotide variant	NM_005051.3(QARS1):c.570+1G>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002579650]	likely pathogenic	3	49102418	49102418	Human	1	name
151759660	CV1500825	single nucleotide variant	NM_005051.3(QARS1):c.570+5G>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002561533]	uncertain significance	3	49102414	49102414	Human	1	name
152078493	CV1564862	single nucleotide variant	NM_005051.3(QARS1):c.516+7G>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002560786]	likely benign	3	49103338	49103338	Human	1	name
152131557	CV1633061	single nucleotide variant	NM_005051.3(QARS1):c.877-5C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003025443]	likely benign	3	49100679	49100679	Human	1	name
155945693	CV1911284	single nucleotide variant	NM_005051.3(QARS1):c.977-4C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002615918]	likely benign	3	49100462	49100462	Human	1	name
156018818	CV1914803	single nucleotide variant	NM_005051.3(QARS1):c.632-8C>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002636604]	likely benign	3	49101907	49101907	Human	1	name
156007769	CV2054420	single nucleotide variant	NM_005051.3(QARS1):c.877-9C>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002819961]	uncertain significance	3	49100683	49100683	Human	1	name
156209041	CV2074147	single nucleotide variant	NM_005051.3(QARS1):c.571-4T>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002829225]	likely benign	3	49102269	49102269	Human	1	name
156266809	CV2097134	single nucleotide variant	NM_005051.3(QARS1):c.876+9G>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002877468]	likely benign	3	49101346	49101346	Human	1	name
156291308	CV2111416	single nucleotide variant	NM_005051.3(QARS1):c.117+8C>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002922164]	likely benign	3	49104609	49104609	Human	1	name
155941140	CV2142945	single nucleotide variant	NM_005051.3(QARS1):c.118-3C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002994062]	uncertain significance	3	49104474	49104474	Human	1	name
11345866	CV239241	single nucleotide variant	NM_005051.3(QARS1):c.117+4C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV000226554]\|QARS1-related disorder [RCV003947783]\|not provided [RCV004767186]	likely benign\|uncertain significance	3	49104613	49104613	Human	1	name , alternate_id
243049562	CV2416951	single nucleotide variant	NM_005051.3(QARS1):c.117+1G>T	not provided [RCV003151623]	likely pathogenic	3	49104616	49104616	Human		name
405136886	CV2907128	single nucleotide variant	NM_005051.3(QARS1):c.877-6T>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003583733]	likely benign	3	49100680	49100680	Human	1	name
405248413	CV2953131	single nucleotide variant	NM_005051.3(QARS1):c.375+8T>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003746789]	likely benign	3	49103855	49103855	Human	1	name
405250201	CV2993019	single nucleotide variant	NM_005051.3(QARS1):c.632-8C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003747310]	likely benign	3	49101907	49101907	Human	1	name
405247061	CV3026821	single nucleotide variant	NM_005051.3(QARS1):c.977-6C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003746221]	likely benign	3	49100464	49100464	Human	1	name
405247687	CV3048589	single nucleotide variant	NM_005051.3(QARS1):c.877-4C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003746468]	likely benign	3	49100678	49100678	Human	1	name
405250487	CV3078074	single nucleotide variant	NM_005051.3(QARS1):c.703+6T>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003747550]	uncertain significance	3	49101822	49101822	Human	1	name
12848075	CV367678	single nucleotide variant	NM_005051.3(QARS1):c.704-5G>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002525372]\|QARS1-related disorder [RCV003942377]\|not provided [RCV000655208]	likely benign	3	49101710	49101710	Human	1	name , alternate_id
12833556	CV367695	single nucleotide variant	NM_005051.3(QARS1):c.118-5C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001393018]\|not specified [RCV000418741]	likely benign	3	49104476	49104476	Human	1	name
597849802	CV3761721	single nucleotide variant	NM_005051.3(QARS1):c.703+7G>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005087817]	likely benign	3	49101821	49101821	Human	1	name
597904819	CV3784702	single nucleotide variant	NM_005051.3(QARS1):c.631+8G>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005127753]	likely benign	3	49102197	49102197	Human	1	name
597877397	CV3813380	single nucleotide variant	NM_005051.3(QARS1):c.265+7C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005149316]	likely benign	3	49104317	49104317	Human	1	name
597853422	CV3825177	single nucleotide variant	NM_005051.3(QARS1):c.790-9T>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005174025]	likely benign	3	49101450	49101450	Human	1	name
597902747	CV3851490	single nucleotide variant	NM_005051.3(QARS1):c.632-6C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005202267]	likely benign	3	49101905	49101905	Human	1	name
12889039	CV394043	single nucleotide variant	NM_005051.3(QARS1):c.571-3C>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003766551]	uncertain significance	3	49102268	49102268	Human	1	name
12884208	CV394047	single nucleotide variant	NM_005051.3(QARS1):c.118-6C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005208977]	likely benign	3	49104477	49104477	Human	1	name
13487935	CV443492	single nucleotide variant	NM_005051.3(QARS1):c.451+4A>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001205470]\|not provided [RCV000523397]	uncertain significance	3	49103627	49103627	Human	1	name
13538026	CV500895	single nucleotide variant	NM_005051.3(QARS1):c.789+3G>A	not specified [RCV000611234]	likely benign	3	49101617	49101617	Human		name
13626682	CV519622	single nucleotide variant	NM_005051.3(QARS1):c.117+5G>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV000655200]\|not provided [RCV001577835]	uncertain significance	3	49104612	49104612	Human	1	name
15159417	CV689743	single nucleotide variant	NM_005051.3(QARS1):c.452-7C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001466610]	likely benign	3	49103416	49103416	Human	1	name
15182492	CV777423	single nucleotide variant	NM_005051.3(QARS1):c.571-8T>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001479083]	likely benign	3	49102273	49102273	Human	1	name
15099626	CV787176	single nucleotide variant	NM_005051.3(QARS1):c.452-8G>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001432851]	likely benign	3	49103417	49103417	Human	1	name
26903545	CV850948	single nucleotide variant	NM_005051.3(QARS1):c.789+1G>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001050256]	likely pathogenic	3	49101619	49101619	Human	1	name
26902824	CV850950	single nucleotide variant	NM_005051.3(QARS1):c.452-4C>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001047935]	likely benign\|uncertain significance	3	49103413	49103413	Human	1	name
26901809	CV851394	single nucleotide variant	NM_005051.3(QARS1):c.977-3C>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001044648]	uncertain significance	3	49100461	49100461	Human	1	name
38483772	CV940758	single nucleotide variant	NM_005051.3(QARS1):c.451+5G>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001219100]	uncertain significance	3	49103626	49103626	Human	1	name
126765144	CV1025347	single nucleotide variant	NM_005051.3(QARS1):c.2277+3G>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001341920]	uncertain significance	3	49097989	49097989	Human	1	name
126910592	CV1042301	single nucleotide variant	NM_005051.3(QARS1):c.1055+7C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001368886]	likely benign\|uncertain significance	3	49100373	49100373	Human	1	name
127258065	CV1055370	single nucleotide variant	NM_005051.3(QARS1):c.1759-2A>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001379874]	likely pathogenic	3	49098991	49098991	Human	1	name
127242262	CV1055371	single nucleotide variant	NM_005051.3(QARS1):c.1164+1G>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001376894]\|not provided [RCV005094511]	likely pathogenic	3	49100189	49100189	Human	1	name
127275072	CV1071023	single nucleotide variant	NM_005051.3(QARS1):c.570+10G>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001406599]	likely benign	3	49102409	49102409	Human	1	name
127335205	CV1114193	single nucleotide variant	NM_005051.3(QARS1):c.376-10C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001474085]	likely benign	3	49103716	49103716	Human	1	name
127318840	CV1114194	single nucleotide variant	NM_005051.3(QARS1):c.265+10C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001466375]	likely benign	3	49104314	49104314	Human	1	name
127301868	CV1135075	single nucleotide variant	NM_005051.3(QARS1):c.2152-7C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001498968]	likely benign	3	49098124	49098124	Human	1	name
127337936	CV1135081	single nucleotide variant	NM_005051.3(QARS1):c.1758+7C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001493293]	likely benign	3	49099103	49099103	Human	1	name
150425574	CV1183371	single nucleotide variant	NM_005051.3(QARS1):c.516+30C>A	not provided [RCV001558181]	likely benign	3	49103315	49103315	Human		name
150425075	CV1183372	single nucleotide variant	NM_005051.3(QARS1):c.118-62G>A	not provided [RCV001557527]	likely benign	3	49104533	49104533	Human		name
150428202	CV1186626	single nucleotide variant	NM_005051.3(QARS1):c.789+63C>T	not provided [RCV001561953]	likely benign	3	49101557	49101557	Human		name
150418454	CV1193341	single nucleotide variant	NM_005051.3(QARS1):c.118-20C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002573207]\|not provided [RCV001569226]	likely benign	3	49104491	49104491	Human	1	name
150473320	CV1217609	single nucleotide variant	NM_005051.3(QARS1):c.517-61C>T	not provided [RCV001615620]\|not specified [RCV004594385]	benign	3	49102533	49102533	Human		name
150493446	CV1281967	single nucleotide variant	NM_005051.3(QARS1):c.632-74C>T	not provided [RCV001717011]	benign	3	49101973	49101973	Human		name
150503462	CV1285761	single nucleotide variant	NM_005051.3(QARS1):c.265+43C>T	not provided [RCV001719184]	benign	3	49104281	49104281	Human		name
150536677	CV1297122	single nucleotide variant	NM_005051.3(QARS1):c.1527-6C>G	not provided [RCV001763413]	uncertain significance	3	49099437	49099437	Human		name
150547601	CV1316102	single nucleotide variant	NM_005051.3(QARS1):c.1389-3C>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001785378]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	49099650	49099650	Human	1	name
151715427	CV1355122	single nucleotide variant	NM_005051.3(QARS1):c.1864-7T>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002562775]	uncertain significance	3	49098699	49098699	Human	1	name
151791305	CV1389243	single nucleotide variant	NM_005051.3(QARS1):c.1527-2A>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002642089]	likely pathogenic	3	49099433	49099433	Human	1	name
151765638	CV1393754	single nucleotide variant	NM_005051.3(QARS1):c.1759-5T>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002579638]	likely benign\|uncertain significance	3	49098994	49098994	Human	1	name
151795305	CV1411030	single nucleotide variant	NM_005051.3(QARS1):c.1526+1G>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002571354]	likely pathogenic	3	49099509	49099509	Human	1	name
151723586	CV1414172	single nucleotide variant	NM_005051.3(QARS1):c.571-17C>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002657734]	likely benign\|uncertain significance	3	49102282	49102282	Human	1	name
151855761	CV1421633	single nucleotide variant	NM_005051.3(QARS1):c.1164+6G>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002557615]	uncertain significance	3	49100184	49100184	Human	1	name
151743440	CV1431750	single nucleotide variant	NM_005051.3(QARS1):c.1957-5T>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002560497]	likely benign\|uncertain significance	3	49098485	49098485	Human	1	name
151709275	CV1514888	single nucleotide variant	NM_005051.3(QARS1):c.2277+1G>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002608027]	uncertain significance	3	49097991	49097991	Human	1	name
152110341	CV1519507	single nucleotide variant	NM_005051.3(QARS1):c.1863+7T>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003025490]	likely benign	3	49098878	49098878	Human	1	name
152045785	CV1525767	single nucleotide variant	NM_005051.3(QARS1):c.976+17G>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003061783]	likely benign	3	49100558	49100558	Human	1	name
152082151	CV1526139	single nucleotide variant	NM_005051.3(QARS1):c.265+19C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002553024]	likely benign	3	49104305	49104305	Human	1	name
152094463	CV1533746	single nucleotide variant	NM_005051.3(QARS1):c.877-12C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003007056]	likely benign	3	49100686	49100686	Human	1	name
152058626	CV1535941	single nucleotide variant	NM_005051.3(QARS1):c.1957-9C>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003070664]	likely benign	3	49098489	49098489	Human	1	name
152111063	CV1537096	single nucleotide variant	NM_005051.3(QARS1):c.704-14T>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002982106]	likely benign	3	49101719	49101719	Human	1	name
152162816	CV1537408	single nucleotide variant	NM_005051.3(QARS1):c.2277+9C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003025463]	likely benign	3	49097983	49097983	Human	1	name
152061664	CV1541210	single nucleotide variant	NM_005051.3(QARS1):c.118-20C>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002561581]	likely benign	3	49104491	49104491	Human	1	name
152041188	CV1558150	deletion	NM_005051.3(QARS1):c.790-10del	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003061772]	benign	3	49101451	49101451	Human	1	name
152168220	CV1558555	single nucleotide variant	NM_005051.3(QARS1):c.703+15C>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003015371]	likely benign	3	49101813	49101813	Human	1	name
152164476	CV1560709	single nucleotide variant	NM_005051.3(QARS1):c.266-18C>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003025469]	likely benign	3	49103990	49103990	Human	1	name
152056843	CV1567179	duplication	NM_005051.3(QARS1):c.1615-9dup	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003070663]	likely benign	3	49099261	49099262	Human	1	name
152138386	CV1572265	single nucleotide variant	NM_005051.3(QARS1):c.703+12T>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002982109]	likely benign	3	49101816	49101816	Human	1	name
152172907	CV1572489	single nucleotide variant	NM_005051.3(QARS1):c.376-20C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003025473]	likely benign	3	49103726	49103726	Human	1	name
152167929	CV1577575	single nucleotide variant	NM_005051.3(QARS1):c.1295+7G>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002562286]	likely benign	3	49099954	49099954	Human	1	name
152026368	CV1582804	single nucleotide variant	NM_005051.3(QARS1):c.1759-4A>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002552356]	likely benign	3	49098993	49098993	Human	1	name
152131186	CV1585617	single nucleotide variant	NM_005051.3(QARS1):c.118-15C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003025491]	likely benign	3	49104486	49104486	Human	1	name
152092737	CV1593194	single nucleotide variant	NM_005051.3(QARS1):c.976+11G>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003061726]	likely benign	3	49100564	49100564	Human	1	name
152085879	CV1599333	single nucleotide variant	NM_005051.3(QARS1):c.790-17C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002993473]	likely benign	3	49101458	49101458	Human	1	name
152090999	CV1602793	single nucleotide variant	NM_005051.3(QARS1):c.1615-7C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003093818]	likely benign	3	49099260	49099260	Human	1	name
152041323	CV1603169	single nucleotide variant	NM_005051.3(QARS1):c.876+18G>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002550516]	likely benign	3	49101337	49101337	Human	1	name
152111989	CV1604010	single nucleotide variant	NM_005051.3(QARS1):c.452-20C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002551241]	likely benign	3	49103429	49103429	Human	1	name
152127081	CV1642014	single nucleotide variant	NM_005051.3(QARS1):c.117+16C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003088998]	likely benign	3	49104601	49104601	Human	1	name
152113433	CV1644630	single nucleotide variant	NM_005051.3(QARS1):c.266-18C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002553684]	likely benign	3	49103990	49103990	Human	1	name
152074857	CV1652825	duplication	NM_005051.3(QARS1):c.977-18dup	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003081028]	likely benign	3	49100475	49100476	Human	1	name
152173105	CV1652907	single nucleotide variant	NM_005051.3(QARS1):c.790-14C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003070644]\|not provided [RCV004711877]	likely benign	3	49101455	49101455	Human	1	name
152119806	CV1654815	single nucleotide variant	NM_005051.3(QARS1):c.266-20C>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002561644]	likely benign	3	49103992	49103992	Human	1	name
152028471	CV1655252	single nucleotide variant	NM_005051.3(QARS1):c.451+11C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003025391]	likely benign	3	49103620	49103620	Human	1	name
156352337	CV1870245	deletion	NM_005051.3(QARS1):c.118-12del	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003064955]	benign	3	49104483	49104483	Human	1	name
156352349	CV1870246	single nucleotide variant	NM_005051.3(QARS1):c.118-13C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003064956]	likely benign	3	49104484	49104484	Human	1	name
156000690	CV1872825	single nucleotide variant	NM_005051.3(QARS1):c.703+10C>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003076569]	likely benign	3	49101818	49101818	Human	1	name
156394915	CV1877022	single nucleotide variant	NM_005051.3(QARS1):c.789+11A>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003068483]	likely benign	3	49101609	49101609	Human	1	name
156385204	CV1883738	single nucleotide variant	NM_005051.3(QARS1):c.1957-9C>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003093618]	likely benign	3	49098489	49098489	Human	1	name
156124706	CV1892815	single nucleotide variant	NM_005051.3(QARS1):c.451+10G>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003081587]	likely benign	3	49103621	49103621	Human	1	name
156411688	CV1893878	single nucleotide variant	NM_005051.3(QARS1):c.977-17G>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003072582]	likely benign	3	49100475	49100475	Human	1	name
156371755	CV1923626	single nucleotide variant	NM_005051.3(QARS1):c.117+15G>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002633448]	likely benign	3	49104602	49104602	Human	1	name
156292678	CV1926595	single nucleotide variant	NM_005051.3(QARS1):c.118-20C>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002628880]	likely benign	3	49104491	49104491	Human	1	name
156057918	CV1928874	single nucleotide variant	NM_005051.3(QARS1):c.1389-3C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002620842]	uncertain significance	3	49099650	49099650	Human	1	name
156186430	CV1933840	single nucleotide variant	NM_005051.3(QARS1):c.876+10T>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002625214]	likely benign	3	49101345	49101345	Human	1	name
156345041	CV1995113	single nucleotide variant	NM_005051.3(QARS1):c.876+17G>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002650525]	likely benign	3	49101338	49101338	Human	1	name
156366820	CV2010808	single nucleotide variant	NM_005051.3(QARS1):c.2085-2A>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002676620]	likely pathogenic	3	49098260	49098260	Human	1	name
156205453	CV2011197	single nucleotide variant	NM_005051.3(QARS1):c.1758+4G>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002700427]	uncertain significance	3	49099106	49099106	Human	1	name
156350515	CV2018725	single nucleotide variant	NM_005051.3(QARS1):c.1526+9G>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002720148]	likely benign	3	49099501	49099501	Human	1	name
155905279	CV2031400	single nucleotide variant	NM_005051.3(QARS1):c.2151+8C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002726433]	likely benign	3	49098184	49098184	Human	1	name
156314167	CV2031782	single nucleotide variant	NM_005051.3(QARS1):c.1864-9T>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002716705]	likely benign	3	49098701	49098701	Human	1	name
155953665	CV2033260	single nucleotide variant	NM_005051.3(QARS1):c.632-11G>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002730813]	likely benign	3	49101910	49101910	Human	1	name
156028635	CV2039744	single nucleotide variant	NM_005051.3(QARS1):c.1164+3G>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002781015]	uncertain significance	3	49100187	49100187	Human	1	name
155989787	CV2053201	single nucleotide variant	NM_005051.3(QARS1):c.451+15G>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002819153]	likely benign	3	49103616	49103616	Human	1	name
156031309	CV2078890	single nucleotide variant	NM_005051.3(QARS1):c.1615-4C>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002867066]	likely benign	3	49099257	49099257	Human	1	name
155981584	CV2090528	single nucleotide variant	NM_005051.3(QARS1):c.1864-5T>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002881960]	likely benign	3	49098697	49098697	Human	1	name
156204985	CV2103654	single nucleotide variant	NM_005051.3(QARS1):c.571-13G>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002931829]	likely benign	3	49102278	49102278	Human	1	name
156213670	CV2110807	single nucleotide variant	NM_005051.3(QARS1):c.117+11C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002918267]	likely benign	3	49104606	49104606	Human	1	name
156358144	CV2126229	single nucleotide variant	NM_005051.3(QARS1):c.452-13C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002966805]	uncertain significance	3	49103422	49103422	Human	1	name
156282129	CV2133877	single nucleotide variant	NM_005051.3(QARS1):c.1864-3T>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003009638]	uncertain significance	3	49098695	49098695	Human	1	name
156033371	CV2142270	single nucleotide variant	NM_005051.3(QARS1):c.1527-7T>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002976700]	likely benign	3	49099438	49099438	Human	1	name
155963704	CV2142400	single nucleotide variant	NM_005051.3(QARS1):c.570+14T>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002995279]	likely benign	3	49102405	49102405	Human	1	name
155924790	CV2144966	single nucleotide variant	NM_005051.3(QARS1):c.1759-9C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003013353]	likely benign	3	49098998	49098998	Human	1	name
156036689	CV2150245	single nucleotide variant	NM_005051.3(QARS1):c.790-13C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003018900]	likely benign	3	49101454	49101454	Human	1	name
156254614	CV2162877	single nucleotide variant	NM_005051.3(QARS1):c.2084+1G>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003026456]	likely pathogenic	3	49098352	49098352	Human	1	name
156034435	CV2182401	single nucleotide variant	NM_005051.3(QARS1):c.2085-6C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003036320]	likely benign	3	49098264	49098264	Human	1	name
405096333	CV2855482	single nucleotide variant	NM_005051.3(QARS1):c.2278-4C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003583283]	likely benign	3	49096083	49096083	Human	1	name
405134805	CV2867761	single nucleotide variant	NM_005051.3(QARS1):c.1864-7T>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003583376]	likely benign	3	49098699	49098699	Human	1	name
405096299	CV2868219	single nucleotide variant	NM_005051.3(QARS1):c.375+13C>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003583386]	likely benign	3	49103850	49103850	Human	1	name
405135473	CV2892785	single nucleotide variant	NM_005051.3(QARS1):c.2085-4G>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003583526]	likely benign	3	49098262	49098262	Human	1	name
405138353	CV2920465	single nucleotide variant	NM_005051.3(QARS1):c.1614+2T>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003583855]	likely pathogenic	3	49099342	49099342	Human	1	name
405248395	CV2941917	single nucleotide variant	NM_005051.3(QARS1):c.571-11G>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003746760]	likely benign	3	49102276	49102276	Human	1	name
405248192	CV2943453	single nucleotide variant	NM_005051.3(QARS1):c.376-15T>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003746702]	likely benign	3	49103721	49103721	Human	1	name
405248690	CV2962558	single nucleotide variant	NM_005051.3(QARS1):c.1296-5C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003746879]	likely benign	3	49099858	49099858	Human	1	name
405249909	CV2978887	single nucleotide variant	NM_005051.3(QARS1):c.1388+9G>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003747153]	likely benign	3	49099752	49099752	Human	1	name
405250215	CV2993433	single nucleotide variant	NM_005051.3(QARS1):c.632-13T>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003747329]	likely benign	3	49101912	49101912	Human	1	name
405250075	CV3002530	single nucleotide variant	NM_005051.3(QARS1):c.265+18C>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003747285]	likely benign	3	49104306	49104306	Human	1	name
405250080	CV3002811	single nucleotide variant	NM_005051.3(QARS1):c.631+16C>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003747296]	likely benign	3	49102189	49102189	Human	1	name
405247993	CV3045626	single nucleotide variant	NM_005051.3(QARS1):c.1526+8C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003746475]	likely benign	3	49099502	49099502	Human	1	name
405247841	CV3047247	single nucleotide variant	NM_005051.3(QARS1):c.570+10G>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003746414]	likely benign	3	49102409	49102409	Human	1	name
405247555	CV3047267	single nucleotide variant	NM_005051.3(QARS1):c.376-19A>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003746416]	likely benign	3	49103725	49103725	Human	1	name
405250182	CV3066784	single nucleotide variant	NM_005051.3(QARS1):c.118-14C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003747441]	likely benign	3	49104485	49104485	Human	1	name
405250360	CV3068555	single nucleotide variant	NM_005051.3(QARS1):c.118-11T>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003747493]	likely benign	3	49104482	49104482	Human	1	name
405250815	CV3072053	single nucleotide variant	NM_005051.3(QARS1):c.570+17C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003747637]	likely benign	3	49102402	49102402	Human	1	name
405117562	CV3134360	single nucleotide variant	NM_005051.3(QARS1):c.265+14C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003836962]	likely benign	3	49104310	49104310	Human	1	name
405016591	CV3139046	single nucleotide variant	NM_005051.3(QARS1):c.632-17T>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003829383]	likely benign	3	49101916	49101916	Human	1	name
405218845	CV3143786	single nucleotide variant	NM_005051.3(QARS1):c.703+12T>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003846756]	likely benign	3	49101816	49101816	Human	1	name
407454004	CV3416438	single nucleotide variant	NM_005051.3(QARS1):c.2085-7G>T	not provided [RCV004597696]	uncertain significance	3	49098265	49098265	Human		name
12840090	CV367291	single nucleotide variant	NM_005051.3(QARS1):c.703+17A>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002522357]\|not specified [RCV000430040]	likely benign	3	49101811	49101811	Human	1	name
12839190	CV367297	single nucleotide variant	NM_005051.3(QARS1):c.452-10A>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002522609]\|not specified [RCV000428358]	likely benign	3	49103419	49103419	Human	1	name
12843187	CV367299	single nucleotide variant	NM_005051.3(QARS1):c.451+18C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001465689]\|not specified [RCV000435775]	likely benign	3	49103613	49103613	Human	1	name
12839869	CV367314	single nucleotide variant	NM_005051.3(QARS1):c.117+17C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002525354]\|See cases [RCV001197406]\|not provided [RCV004711063]\|not specified [RCV000429626]	benign\|likely benign	3	49104600	49104600	Human	1	name
12836502	CV367632	single nucleotide variant	NM_005051.3(QARS1):c.2152-9T>C	not specified [RCV000423500]	likely benign	3	49098126	49098126	Human		name
12844453	CV367638	single nucleotide variant	NM_005051.3(QARS1):c.1957-9C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001450565]\|not provided [RCV000461634]	likely benign	3	49098489	49098489	Human	1	name
12845916	CV367662	single nucleotide variant	NM_005051.3(QARS1):c.1388+7G>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001523707]\|not provided [RCV000551557]\|not specified [RCV000440672]	benign\|likely benign	3	49099754	49099754	Human	1	name
12846871	CV367663	single nucleotide variant	NM_005051.3(QARS1):c.877-15G>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002526358]\|not specified [RCV000442481]	likely benign	3	49100689	49100689	Human	1	name
12845107	CV367664	single nucleotide variant	NM_005051.3(QARS1):c.516+13C>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002521777]\|not specified [RCV000439215]	likely benign	3	49103332	49103332	Human	1	name
12848432	CV367668	single nucleotide variant	NM_005051.3(QARS1):c.977-13C>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001513530]\|not provided [RCV004716426]\|not specified [RCV000445289]	benign	3	49100471	49100471	Human	1	name
12840384	CV367677	single nucleotide variant	NM_005051.3(QARS1):c.877-17T>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002524863]\|not specified [RCV000430603]	likely benign	3	49100691	49100691	Human	1	name
12834545	CV367683	single nucleotide variant	NM_005051.3(QARS1):c.632-20C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002521725]\|not specified [RCV000420135]	likely benign	3	49101919	49101919	Human	1	name
12846588	CV367684	single nucleotide variant	NM_005051.3(QARS1):c.451+19G>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002521639]\|not specified [RCV000441939]	likely benign	3	49103612	49103612	Human	1	name
12841506	CV367696	single nucleotide variant	NM_005051.3(QARS1):c.118-12C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005090756]\|not provided [RCV001703772]	likely benign	3	49104483	49104483	Human	1	name
12839630	CV368702	single nucleotide variant	NM_005051.3(QARS1):c.266-15G>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002525332]\|not specified [RCV000429182]	likely benign	3	49103987	49103987	Human	1	name
12840528	CV368706	single nucleotide variant	NM_005051.3(QARS1):c.266-17G>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002525441]\|not specified [RCV000430885]	likely benign\|uncertain significance	3	49103989	49103989	Human	1	name
597873967	CV3747404	single nucleotide variant	NM_005051.3(QARS1):c.703+15C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005069088]	likely benign	3	49101813	49101813	Human	1	name
597965717	CV3751432	single nucleotide variant	NM_005051.3(QARS1):c.1956+7G>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005082801]	likely benign	3	49098593	49098593	Human	1	name
597940638	CV3757223	single nucleotide variant	NM_005051.3(QARS1):c.790-12C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005077408]	likely benign	3	49101453	49101453	Human	1	name
597952403	CV3765636	single nucleotide variant	NM_005051.3(QARS1):c.516+15C>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005121280]	likely benign	3	49103330	49103330	Human	1	name
597907781	CV3773259	single nucleotide variant	NM_005051.3(QARS1):c.2084+1G>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005113324]	likely pathogenic	3	49098352	49098352	Human	1	name
597942500	CV3779929	single nucleotide variant	NM_005051.3(QARS1):c.451+15G>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005118938]	likely benign	3	49103616	49103616	Human	1	name
597880835	CV3783689	single nucleotide variant	NM_005051.3(QARS1):c.375+13C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005124185]	likely benign	3	49103850	49103850	Human	1	name
597968919	CV3791149	single nucleotide variant	NM_005051.3(QARS1):c.1758+1G>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005141181]	likely pathogenic	3	49099109	49099109	Human	1	name
597970720	CV3802062	single nucleotide variant	NM_005051.3(QARS1):c.516+16T>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005141854]	likely benign	3	49103329	49103329	Human	1	name
597937762	CV3807914	duplication	NM_005051.3(QARS1):c.1056-5dup	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005158293]	benign	3	49100302	49100303	Human	1	name
597942968	CV3816360	single nucleotide variant	NM_005051.3(QARS1):c.571-15T>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005159421]	likely benign	3	49102280	49102280	Human	1	name
597974123	CV3821099	single nucleotide variant	NM_005051.3(QARS1):c.789+13G>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005168420]	likely benign	3	49101607	49101607	Human	1	name
597832312	CV3830995	single nucleotide variant	NM_005051.3(QARS1):c.117+19C>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005170392]	likely benign	3	49104598	49104598	Human	1	name
597932966	CV3844579	single nucleotide variant	NM_005051.3(QARS1):c.1056-7C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005186086]	likely benign	3	49100305	49100305	Human	1	name
12893086	CV393626	duplication	NM_005051.3(QARS1):c.632-10dup	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001475436]\|not provided [RCV000474109]\|not specified [RCV000480216]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	3	49101907	49101908	Human	1	name
12886228	CV393842	single nucleotide variant	NM_005051.3(QARS1):c.1165-8C>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002525673]	likely benign	3	49100099	49100099	Human	1	name
12890589	CV393844	single nucleotide variant	NM_005051.3(QARS1):c.704-10G>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001402766]	likely benign	3	49101715	49101715	Human	1	name
13501344	CV452490	single nucleotide variant	NM_005051.3(QARS1):c.1615-9T>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001414315]\|not provided [RCV000540950]	likely benign	3	49099262	49099262	Human	1	name
13470303	CV452815	single nucleotide variant	NM_005051.3(QARS1):c.1164+6G>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003746535]	uncertain significance	3	49100184	49100184	Human	1	name
13531589	CV500581	single nucleotide variant	NM_005051.3(QARS1):c.632-13T>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002531624]\|not specified [RCV000606526]	likely benign	3	49101912	49101912	Human	1	name
13541454	CV500583	single nucleotide variant	NM_005051.3(QARS1):c.570+16G>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003583173]\|not specified [RCV000616180]	likely benign	3	49102403	49102403	Human	1	name
13541166	CV500916	single nucleotide variant	NM_005051.3(QARS1):c.571-17C>T	not specified [RCV000615768]	likely benign	3	49102282	49102282	Human		name
13626673	CV519382	single nucleotide variant	NM_005051.3(QARS1):c.2085-3C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV000655190]\|Inborn genetic diseases [RCV002534226]	uncertain significance	3	49098261	49098261	Human	2	name
14696301	CV622501	single nucleotide variant	NM_005051.3(QARS1):c.2085-3C>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV000785086]	likely pathogenic	3	49098261	49098261	Human	1	name
15154271	CV759213	single nucleotide variant	NM_005051.3(QARS1):c.1055+8C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001451174]	likely benign	3	49100372	49100372	Human	1	name
15125262	CV759277	single nucleotide variant	NM_005051.3(QARS1):c.1615-9T>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001401498]	likely benign	3	49099262	49099262	Human	1	name
38478952	CV939947	single nucleotide variant	NM_005051.3(QARS1):c.1615-2A>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001205775]	likely pathogenic\|conflicting interpretations of pathogenicity	3	49099255	49099255	Human	1	name
38480077	CV939948	single nucleotide variant	NM_005051.3(QARS1):c.1614+3A>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001206240]\|not provided [RCV001773462]	uncertain significance	3	49099341	49099341	Human	1	name
150336809	CV1171137	single nucleotide variant	NM_005051.3(QARS1):c.1957-48G>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001796599]\|not provided [RCV001541204]\|not specified [RCV004594331]	benign	3	49098528	49098528	Human	1	name
150418909	CV1179738	single nucleotide variant	NM_005051.3(QARS1):c.1956+25A>G	not provided [RCV001550807]	likely benign	3	49098575	49098575	Human		name
150423442	CV1183370	single nucleotide variant	NM_005051.3(QARS1):c.2278-40G>A	not provided [RCV001555326]	likely benign	3	49096119	49096119	Human		name
150427381	CV1186627	single nucleotide variant	NM_005051.3(QARS1):c.516+215T>A	not provided [RCV001560850]	likely benign	3	49103130	49103130	Human		name
150422009	CV1193339	single nucleotide variant	NM_005051.3(QARS1):c.2084+22G>T	not provided [RCV001570782]	likely benign	3	49098331	49098331	Human		name
150408024	CV1193340	single nucleotide variant	NM_005051.3(QARS1):c.517-214C>T	not provided [RCV001572508]	likely benign	3	49102686	49102686	Human		name
150443654	CV1205159	single nucleotide variant	NM_005051.3(QARS1):c.1957-10C>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002571173]\|not provided [RCV001584002]	likely benign	3	49098490	49098490	Human	1	name
150533423	CV1292724	single nucleotide variant	NM_005051.3(QARS1):c.1759-13T>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002539854]\|not provided [RCV001754332]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	3	49099002	49099002	Human	1	name
151840942	CV1367966	single nucleotide variant	NM_005051.3(QARS1):c.2085-12C>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002553479]\|not provided [RCV005241472]	uncertain significance	3	49098270	49098270	Human	1	name
152108199	CV1519972	single nucleotide variant	NM_005051.3(QARS1):c.1295+18T>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003061792]	likely benign	3	49099943	49099943	Human	1	name
152083538	CV1525340	duplication	NM_005051.3(QARS1):c.1389-20dup	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003070625]	likely benign	3	49099666	49099667	Human	1	name
152081249	CV1525995	single nucleotide variant	NM_005051.3(QARS1):c.2152-12C>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002553023]	likely benign	3	49098129	49098129	Human	1	name
152126185	CV1544697	single nucleotide variant	NM_005051.3(QARS1):c.1055+15A>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002552996]	likely benign	3	49100365	49100365	Human	1	name
152031386	CV1546548	single nucleotide variant	NM_005051.3(QARS1):c.2085-18C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003061764]	likely benign	3	49098276	49098276	Human	1	name
152075662	CV1551233	single nucleotide variant	NM_005051.3(QARS1):c.1295+17G>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002553710]	likely benign	3	49099944	49099944	Human	1	name
152076105	CV1551357	single nucleotide variant	NM_005051.3(QARS1):c.1863+17G>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002553712]	likely benign	3	49098868	49098868	Human	1	name
152071332	CV1552085	single nucleotide variant	NM_005051.3(QARS1):c.1863+10G>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003053385]	likely benign	3	49098875	49098875	Human	1	name
152164155	CV1560491	single nucleotide variant	NM_005051.3(QARS1):c.1296-19C>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003025468]	likely benign	3	49099872	49099872	Human	1	name
152097227	CV1566208	single nucleotide variant	NM_005051.3(QARS1):c.1527-14C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003007070]	likely benign	3	49099445	49099445	Human	1	name
152029913	CV1568746	single nucleotide variant	NM_005051.3(QARS1):c.2152-10C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003089029]	likely benign	3	49098127	49098127	Human	1	name
152122821	CV1570485	single nucleotide variant	NM_005051.3(QARS1):c.2152-20C>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002562324]	likely benign	3	49098137	49098137	Human	1	name
152072796	CV1597909	single nucleotide variant	NM_005051.3(QARS1):c.1864-12T>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002551311]	likely benign	3	49098704	49098704	Human	1	name
152172645	CV1599214	single nucleotide variant	NM_005051.3(QARS1):c.2085-14C>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003070641]	likely benign	3	49098272	49098272	Human	1	name
152160772	CV1601780	single nucleotide variant	NM_005051.3(QARS1):c.1615-17C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003033327]	likely benign	3	49099270	49099270	Human	1	name
152107277	CV1605253	single nucleotide variant	NM_005051.3(QARS1):c.1957-18C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003089071]	likely benign	3	49098498	49098498	Human	1	name
152102766	CV1605976	single nucleotide variant	NM_005051.3(QARS1):c.1056-12G>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003104172]	likely benign	3	49100310	49100310	Human	1	name
152121504	CV1613206	single nucleotide variant	NM_005051.3(QARS1):c.1388+18A>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003081062]	likely benign	3	49099743	49099743	Human	1	name
152049473	CV1615144	single nucleotide variant	NM_005051.3(QARS1):c.1296-16T>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003053409]	likely benign	3	49099869	49099869	Human	1	name
152124632	CV1629989	deletion	NM_005051.3(QARS1):c.2152-19del	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002551317]	likely benign	3	49098136	49098136	Human	1	name
152152799	CV1631253	single nucleotide variant	NM_005051.3(QARS1):c.1758+13C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003070602]	likely benign	3	49099097	49099097	Human	1	name
152077685	CV1632914	single nucleotide variant	NM_005051.3(QARS1):c.1055+20G>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002553008]	likely benign	3	49100360	49100360	Human	1	name
152126785	CV1641971	single nucleotide variant	NM_005051.3(QARS1):c.1863+11G>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003093796]	likely benign	3	49098874	49098874	Human	1	name
152065145	CV1652513	single nucleotide variant	NM_005051.3(QARS1):c.1295+20G>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003007048]	likely benign	3	49099941	49099941	Human	1	name
152099901	CV1655213	single nucleotide variant	NM_005051.3(QARS1):c.2151+13G>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003025389]	likely benign	3	49098179	49098179	Human	1	name
152102833	CV1656624	single nucleotide variant	NM_005051.3(QARS1):c.2085-13A>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003025398]	likely benign	3	49098271	49098271	Human	1	name
152063205	CV1663940	single nucleotide variant	NM_005051.3(QARS1):c.1526+11C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003053395]	likely benign	3	49099499	49099499	Human	1	name
152054184	CV1665395	single nucleotide variant	NM_005051.3(QARS1):c.1389-14C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002551246]	likely benign	3	49099661	49099661	Human	1	name
156379441	CV1876877	single nucleotide variant	NM_005051.3(QARS1):c.2151+12A>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003067043]	likely benign	3	49098180	49098180	Human	1	name
156081279	CV1883608	single nucleotide variant	NM_005051.3(QARS1):c.2084+19G>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003079875]	uncertain significance	3	49098334	49098334	Human	1	name
156235408	CV1885457	single nucleotide variant	NM_005051.3(QARS1):c.1526+13G>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003085539]	likely benign	3	49099497	49099497	Human	1	name
156388788	CV1888389	single nucleotide variant	NM_005051.3(QARS1):c.1863+10G>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003067796]	likely benign	3	49098875	49098875	Human	1	name
156411163	CV1892962	single nucleotide variant	NM_005051.3(QARS1):c.1165-17G>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003072360]	likely benign	3	49100108	49100108	Human	1	name
156172929	CV1930264	single nucleotide variant	NM_005051.3(QARS1):c.1614+11G>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002624771]	likely benign	3	49099333	49099333	Human	1	name
156227079	CV1991599	single nucleotide variant	NM_005051.3(QARS1):c.1296-14C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002626658]	likely benign	3	49099867	49099867	Human	1	name
156405025	CV1994164	single nucleotide variant	NM_005051.3(QARS1):c.1758+14A>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002658199]	likely benign	3	49099096	49099096	Human	1	name
156393932	CV2019386	deletion	NM_005051.3(QARS1):c.1864-10del	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002725337]	likely benign	3	49098702	49098702	Human	1	name
155991903	CV2049717	single nucleotide variant	NM_005051.3(QARS1):c.1864-19C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002819243]	likely benign	3	49098711	49098711	Human	1	name
155938088	CV2075132	single nucleotide variant	NM_005051.3(QARS1):c.1056-13C>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002861586]	likely benign	3	49100311	49100311	Human	1	name
155914016	CV2077849	single nucleotide variant	NM_005051.3(QARS1):c.1957-20T>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002858699]	likely benign	3	49098500	49098500	Human	1	name
156143609	CV2106219	single nucleotide variant	NM_005051.3(QARS1):c.2277+18C>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002928648]	likely benign	3	49097974	49097974	Human	1	name
156230346	CV2115571	single nucleotide variant	NM_005051.3(QARS1):c.1957-13C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002932804]	likely benign	3	49098493	49098493	Human	1	name
156032332	CV2116198	single nucleotide variant	NM_005051.3(QARS1):c.1957-11C>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002910122]	likely benign	3	49098491	49098491	Human	1	name
156278114	CV2137379	single nucleotide variant	NM_005051.3(QARS1):c.1164+20T>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003009501]	likely benign	3	49100170	49100170	Human	1	name
156083729	CV2138373	single nucleotide variant	NM_005051.3(QARS1):c.1296-11A>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002979350]	likely benign	3	49099864	49099864	Human	1	name
156212649	CV2142076	single nucleotide variant	NM_005051.3(QARS1):c.1056-10T>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002985654]	likely benign	3	49100308	49100308	Human	1	name
156110622	CV2146040	single nucleotide variant	NM_005051.3(QARS1):c.1527-18C>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003021396]	likely benign	3	49099449	49099449	Human	1	name
155966524	CV2180119	single nucleotide variant	NM_005051.3(QARS1):c.1759-13T>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003033193]	likely benign	3	49099002	49099002	Human	1	name
405134496	CV2867332	single nucleotide variant	NM_005051.3(QARS1):c.1389-16T>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003583364]	likely benign	3	49099663	49099663	Human	1	name
405135542	CV2882970	single nucleotide variant	NM_005051.3(QARS1):c.2084+14G>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003583545]	likely benign	3	49098339	49098339	Human	1	name
405134696	CV2892427	single nucleotide variant	NM_005051.3(QARS1):c.1296-20C>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003583508]	likely benign	3	49099873	49099873	Human	1	name
405136083	CV2905940	single nucleotide variant	NM_005051.3(QARS1):c.1056-16C>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003583654]	likely benign	3	49100314	49100314	Human	1	name
405140142	CV2918197	single nucleotide variant	NM_005051.3(QARS1):c.1295+10G>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003583905]	likely benign	3	49099951	49099951	Human	1	name
405137849	CV2919118	single nucleotide variant	NM_005051.3(QARS1):c.1164+11A>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003583801]	likely benign	3	49100179	49100179	Human	1	name
405248370	CV2938467	single nucleotide variant	NM_005051.3(QARS1):c.1055+11G>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003746753]	likely benign	3	49100369	49100369	Human	1	name
405248623	CV2955242	single nucleotide variant	NM_005051.3(QARS1):c.1056-15A>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003746857]	likely benign	3	49100313	49100313	Human	1	name
405248935	CV2959413	single nucleotide variant	NM_005051.3(QARS1):c.1295+12A>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003746872]	likely benign	3	49099949	49099949	Human	1	name
405248895	CV2960789	single nucleotide variant	NM_005051.3(QARS1):c.1389-12C>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003746820]	likely benign	3	49099659	49099659	Human	1	name
405247154	CV3019233	single nucleotide variant	NM_005051.3(QARS1):c.1957-14C>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003746190]	likely benign	3	49098494	49098494	Human	1	name
405250357	CV3058322	duplication	NM_005051.3(QARS1):c.1056-17dup	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003747492]	likely benign	3	49100314	49100315	Human	1	name
405250353	CV3061395	single nucleotide variant	NM_005051.3(QARS1):c.1056-11C>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003747490]	likely benign	3	49100309	49100309	Human	1	name
405250372	CV3061603	single nucleotide variant	NM_005051.3(QARS1):c.1957-11C>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003747498]	likely benign	3	49098491	49098491	Human	1	name
405250282	CV3067494	single nucleotide variant	NM_005051.3(QARS1):c.1864-14C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003747460]	likely benign	3	49098706	49098706	Human	1	name
405251142	CV3072412	single nucleotide variant	NM_005051.3(QARS1):c.2084+12G>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003747668]	likely benign	3	49098341	49098341	Human	1	name
405160180	CV3125018	single nucleotide variant	NM_005051.3(QARS1):c.1056-20C>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003818289]	likely benign	3	49100318	49100318	Human	1	name
405180840	CV3147405	single nucleotide variant	NM_005051.3(QARS1):c.2278-13C>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003842307]	likely benign	3	49096092	49096092	Human	1	name
402472848	CV3171771	single nucleotide variant	NM_005051.3(QARS1):c.2085-17C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003874555]	likely benign	3	49098275	49098275	Human	1	name
12837483	CV367273	single nucleotide variant	NM_005051.3(QARS1):c.2152-11C>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002521752]\|not provided [RCV001698161]	benign\|likely benign	3	49098128	49098128	Human	1	name
12835425	CV367276	single nucleotide variant	NM_005051.3(QARS1):c.1295+13T>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002521584]\|not specified [RCV000421643]	benign	3	49099948	49099948	Human	1	name
12838314	CV367644	single nucleotide variant	NM_005051.3(QARS1):c.1957-19C>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001520869]\|not provided [RCV004717586]\|not specified [RCV000426736]	benign\|likely benign	3	49098499	49098499	Human	1	name
12841593	CV367647	single nucleotide variant	NM_005051.3(QARS1):c.1863+18A>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002521821]\|not specified [RCV000432850]	likely benign	3	49098867	49098867	Human	1	name
12838977	CV367649	single nucleotide variant	NM_005051.3(QARS1):c.1615-17C>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003105900]\|not specified [RCV000427956]	benign	3	49099270	49099270	Human	1	name
12847747	CV367657	single nucleotide variant	NM_005051.3(QARS1):c.1527-18C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002521724]\|not specified [RCV000444038]	likely benign	3	49099449	49099449	Human	1	name
12837704	CV367667	single nucleotide variant	NM_005051.3(QARS1):c.1056-13C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002522448]\|not specified [RCV000425615]	likely benign	3	49100311	49100311	Human	1	name
12846820	CV368645	single nucleotide variant	NM_005051.3(QARS1):c.2151+11G>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002522421]\|not specified [RCV000442380]	likely benign	3	49098181	49098181	Human	1	name
12839291	CV368652	single nucleotide variant	NM_005051.3(QARS1):c.1864-15A>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002526337]\|not specified [RCV000428542]	likely benign	3	49098707	49098707	Human	1	name
12846140	CV368658	single nucleotide variant	NM_005051.3(QARS1):c.1863+14G>T	not specified [RCV000441096]	likely benign	3	49098871	49098871	Human		name
12840571	CV368663	single nucleotide variant	NM_005051.3(QARS1):c.1863+10G>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003583159]\|not specified [RCV000430971]	likely benign	3	49098875	49098875	Human	1	name
12840202	CV368673	single nucleotide variant	NM_005051.3(QARS1):c.1295+20G>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002525403]\|not provided [RCV004711069]\|not specified [RCV000430248]	benign\|likely benign	3	49099941	49099941	Human	1	name
597835336	CV3760814	single nucleotide variant	NM_005051.3(QARS1):c.1056-16C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005085365]	likely benign	3	49100314	49100314	Human	1	name
597944741	CV3776677	single nucleotide variant	NM_005051.3(QARS1):c.2277+17A>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005119533]	likely benign	3	49097975	49097975	Human	1	name
597945568	CV3779652	single nucleotide variant	NM_005051.3(QARS1):c.1296-19C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005134616]	likely benign	3	49099872	49099872	Human	1	name
597888375	CV3787731	single nucleotide variant	NM_005051.3(QARS1):c.1956+16A>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005125298]	likely benign	3	49098584	49098584	Human	1	name
597966045	CV3793891	single nucleotide variant	NM_005051.3(QARS1):c.1863+13G>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005140273]	likely benign	3	49098872	49098872	Human	1	name
597952120	CV3815703	single nucleotide variant	NM_005051.3(QARS1):c.2152-18T>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005161456]	likely benign	3	49098135	49098135	Human	1	name
597950199	CV3818935	single nucleotide variant	NM_005051.3(QARS1):c.1388+18A>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005161005]	likely benign	3	49099743	49099743	Human	1	name
597907686	CV3843041	single nucleotide variant	NM_005051.3(QARS1):c.1526+18G>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005182349]	likely benign	3	49099492	49099492	Human	1	name
597901882	CV3845506	single nucleotide variant	NM_005051.3(QARS1):c.2152-20C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005181316]	likely benign	3	49098137	49098137	Human	1	name
12883026	CV393839	duplication	NM_005051.3(QARS1):c.1957-14dup	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001515212]	benign	3	49098488	49098489	Human	1	name
13492531	CV452492	single nucleotide variant	NM_005051.3(QARS1):c.1055+10G>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001513684]\|QARS1-related disorder [RCV003905476]\|not provided [RCV000557515]	benign\|likely benign	3	49100370	49100370	Human	1	name , alternate_id
13465408	CV452747	single nucleotide variant	NM_005051.3(QARS1):c.1957-10C>G	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003746538]	likely benign	3	49098490	49098490	Human	1	name
13534496	CV500315	single nucleotide variant	NM_005051.3(QARS1):c.1388+17C>T	not specified [RCV000601907]	likely benign	3	49099744	49099744	Human		name
13537762	CV500575	single nucleotide variant	NM_005051.3(QARS1):c.1526+13G>C	not specified [RCV000610854]	likely benign	3	49099497	49099497	Human		name
13530257	CV500774	single nucleotide variant	NM_005051.3(QARS1):c.1957-14C>T	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003105998]\|not specified [RCV000600632]	likely benign	3	49098494	49098494	Human	1	name
13539684	CV500779	single nucleotide variant	NM_005051.3(QARS1):c.1863+14G>A	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005091723]\|not specified [RCV000613622]	likely benign	3	49098871	49098871	Human	1	name
13539424	CV500884	single nucleotide variant	NM_005051.3(QARS1):c.2151+13G>C	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002532779]\|not specified [RCV000613252]	likely benign	3	49098179	49098179	Human	1	name
156291683	CV2156377	deletion	NM_005051.3(QARS1):c.787_789+3del	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003009995]	likely pathogenic	3	49101617	49101622	Human	1	name
13626681	CV519609	duplication	NM_005051.3(QARS1):c.790-2_806dup	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005091878]	uncertain significance	3	49101424	49101425	Human	1	name
126921634	CV1042304	duplication	NM_005051.3(QARS1):c.570+2_570+4dup	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001363718]	uncertain significance	3	49102414	49102415	Human	1	name
152046740	CV1561494	duplication	NM_005051.3(QARS1):c.977-4_977-3dup	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003061732]	likely benign	3	49100460	49100461	Human	1	name
156331012	CV1884403	microsatellite	NM_005051.3(QARS1):c.266-9_266-6del	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003089798]	uncertain significance	3	49103978	49103981	Human		name
151782078	CV1446866	microsatellite	NM_005051.3(QARS1):c.2084+2_2084+3del	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002551190]	likely pathogenic	3	49098350	49098351	Human		name
155906618	CV2130817	deletion	NM_005051.3(QARS1):c.977-13_977-10del	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002967750]	likely benign	3	49100468	49100471	Human	1	name
12900712	CV406331	microsatellite	NM_005051.3(QARS1):c.1759-13_1759-7del	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001467484]\|not specified [RCV000483014]	likely benign	3	49098996	49099002	Human		name
152026676	CV1583026	duplication	NM_005051.3(QARS1):c.2278-21_2278-19dup	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002552358]	likely benign	3	49096097	49096098	Human	1	name
156117678	CV1994055	deletion	NM_005051.3(QARS1):c.2151+17_2151+18del	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002662730]	likely benign	3	49098174	49098175	Human	1	name
401931502	CV2798095	microsatellite	NM_005051.3(QARS1):c.1389-11_1389-10del	QARS1-related disorder [RCV003391343]	uncertain significance	3	49099657	49099658	Human		name , trait , alternate_id
12899615	CV406330	microsatellite	NM_005051.3(QARS1):c.1957-22_1957-20del	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002526605]\|not specified [RCV000480606]	likely benign	3	49098500	49098502	Human		name
12899041	CV406332	deletion	NM_005051.3(QARS1):c.1758+17_1758+18del	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002526622]\|not specified [RCV000479290]	benign\|likely benign	3	49099092	49099093	Human	1	name
152077220	CV1592194	indel	NM_005051.3(QARS1):c.117+20_117+21delinsGA	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003015246]	likely benign	3	49104596	49104597	Human		name
155903166	CV2083967	indel	NM_005051.3(QARS1):c.2277+16_2277+17delinsAC	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002857985]	uncertain significance	3	49097975	49097976	Human		name
127324782	CV1135080	single nucleotide variant	NM_005051.3(QARS1):c.1884G>A (p.Lys628=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001505751]\|QARS1-related disorder [RCV003966041]	likely benign	3	49098672	49098672	Human	1	name , alternate_id
8658687	CV132623	single nucleotide variant	NM_005051.3(QARS1):c.134G>T (p.Gly45Val)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV000114972]\|QARS1-related disorder [RCV003415881]\|not provided [RCV000494584]	pathogenic\|likely pathogenic	3	49104455	49104455	Human	1	name , alternate_id
12835356	CV367275	single nucleotide variant	NM_005051.3(QARS1):c.1426G>A (p.Val476Ile)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001521138]\|QARS1-related disorder [RCV003932582]\|not provided [RCV000464919]	benign\|likely benign\|conflicting interpretations of pathogenicity	3	49099610	49099610	Human	1	name , alternate_id
12843304	CV367322	single nucleotide variant	NM_005051.3(QARS1):c.25C>A (p.Leu9Ile)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001522612]\|QARS1-related disorder [RCV004752892]\|not provided [RCV000456406]	benign\|likely benign\|conflicting interpretations of pathogenicity	3	49104709	49104709	Human	1	name , alternate_id
12833031	CV367661	single nucleotide variant	NM_005051.3(QARS1):c.1014T>C (p.Tyr338=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001518699]\|QARS1-related disorder [RCV004752891]\|not provided [RCV000712882]\|not specified [RCV000417720]	benign	3	49100421	49100421	Human	1	name , alternate_id
12835388	CV368648	single nucleotide variant	NM_005051.3(QARS1):c.2064G>A (p.Glu688=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001512391]\|QARS1-related disorder [RCV003942384]\|not provided [RCV000470942]\|not specified [RCV003993960]	benign\|likely benign	3	49098373	49098373	Human	1	name , alternate_id
12841405	CV368682	single nucleotide variant	NM_005051.3(QARS1):c.930G>A (p.Glu310=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001469191]\|QARS1-related disorder [RCV003912745]\|not provided [RCV001704412]	likely benign	3	49100621	49100621	Human	1	name , alternate_id
12841687	CV368713	single nucleotide variant	NM_005051.3(QARS1):c.163C>T (p.Leu55=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001511167]\|QARS1-related disorder [RCV003902517]\|not provided [RCV003437176]\|not specified [RCV000433012]	benign	3	49104426	49104426	Human	1	name , alternate_id
12892823	CV393596	single nucleotide variant	NM_005051.3(QARS1):c.1760C>T (p.Ser587Phe)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001467022]\|QARS1-related disorder [RCV003942486]\|not provided [RCV000484581]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	3	49098988	49098988	Human	1	name , alternate_id
13486488	CV453025	single nucleotide variant	NM_005051.3(QARS1):c.2123C>T (p.Pro708Leu)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001406324]\|Inborn genetic diseases [RCV002527955]\|QARS1-related disorder [RCV003962619]\|not provided [RCV000531286]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	3	49098220	49098220	Human	2	name , alternate_id
13832635	CV590052	single nucleotide variant	NM_005051.3(QARS1):c.1132C>T (p.Arg378Cys)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001299085]\|QARS1-related disorder [RCV003411687]\|not provided [RCV001592938]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	49100222	49100222	Human	1	name , alternate_id
15124562	CV764002	single nucleotide variant	NM_005051.3(QARS1):c.954C>A (p.Ile318=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002544574]\|QARS1-related disorder [RCV004753128]	likely benign	3	49100597	49100597	Human	1	name , alternate_id
26901896	CV828284	single nucleotide variant	NM_005051.3(QARS1):c.800G>A (p.Arg267Gln)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001044950]\|QARS1-related disorder [RCV003405243]	uncertain significance	3	49101431	49101431	Human	1	name , alternate_id
12835548	CV367698	single nucleotide variant	NM_005051.3(QARS1):c.9T>C (p.Ala3=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001471438]\|not specified [RCV000421877]	likely benign	3	49104725	49104725	Human	1	name
15185825	CV764003	single nucleotide variant	NM_005051.3(QARS1):c.6G>T (p.Ala2=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001425276]	likely benign	3	49104728	49104728	Human	1	name
127280372	CV1071029	single nucleotide variant	NM_005051.3(QARS1):c.21G>A (p.Leu7=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001409740]\|not provided [RCV003438774]	likely benign	3	49104713	49104713	Human	1	name
127308804	CV1114195	single nucleotide variant	NM_005051.3(QARS1):c.19C>T (p.Leu7=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001456163]	likely benign	3	49104715	49104715	Human	1	name
152069991	CV1628286	single nucleotide variant	NM_005051.3(QARS1):c.18C>T (p.Ser6=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003088990]	likely benign	3	49104716	49104716	Human	1	name
152098554	CV1650374	single nucleotide variant	NM_005051.3(QARS1):c.15C>T (p.Asp5=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003070599]	likely benign	3	49104719	49104719	Human	1	name
156388817	CV2122246	single nucleotide variant	NM_005051.3(QARS1):c.10C>T (p.Leu4=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002943700]	likely benign	3	49104724	49104724	Human	1	name
15101457	CV686436	single nucleotide variant	NM_005051.3(QARS1):c.12A>G (p.Leu4=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001449153]	likely benign	3	49104722	49104722	Human	1	name
127337633	CV1135086	single nucleotide variant	NM_005051.3(QARS1):c.84T>C (p.Ala28=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001492956]	likely benign	3	49104650	49104650	Human	1	name
152063967	CV1644887	single nucleotide variant	NM_005051.3(QARS1):c.72C>G (p.Leu24=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003033298]	likely benign	3	49104662	49104662	Human	1	name
156443865	CV1941137	single nucleotide variant	NM_005051.3(QARS1):c.33T>C (p.Thr11=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003114774]	likely benign	3	49104701	49104701	Human	1	name
155937208	CV2045020	single nucleotide variant	NM_005051.3(QARS1):c.5C>A (p.Ala2Glu)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002774957]	uncertain significance	3	49104729	49104729	Human	1	name
156160884	CV2074235	single nucleotide variant	NM_005051.3(QARS1):c.3G>A (p.Met1Ile)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002851205]	pathogenic	3	49104731	49104731	Human	1	name
156211314	CV2170875	single nucleotide variant	NM_005051.3(QARS1):c.30C>T (p.Phe10=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003042342]	uncertain significance	3	49104704	49104704	Human	1	name
405096003	CV2861331	duplication	NM_005051.3(QARS1):c.16dup (p.Ser6fs)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003583263]	pathogenic	3	49104717	49104718	Human	1	name
12840234	CV367318	single nucleotide variant	NM_005051.3(QARS1):c.93G>A (p.Ala31=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001499168]\|not specified [RCV000430309]	likely benign	3	49104641	49104641	Human	1	name
597890937	CV3784919	single nucleotide variant	NM_005051.3(QARS1):c.57G>A (p.Lys19=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005125698]	likely benign	3	49104677	49104677	Human	1	name
597871229	CV3849289	single nucleotide variant	NM_005051.3(QARS1):c.42C>T (p.Gly14=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005197470]	likely benign	3	49104692	49104692	Human	1	name
13536652	CV500920	single nucleotide variant	NM_005051.3(QARS1):c.45G>C (p.Leu15=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001435042]\|not specified [RCV000609308]	likely benign	3	49104689	49104689	Human	1	name
26904913	CV828296	single nucleotide variant	NM_005051.3(QARS1):c.8C>T (p.Ala3Val)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001056274]	uncertain significance	3	49104726	49104726	Human	1	name
38463063	CV932002	single nucleotide variant	NM_005051.3(QARS1):c.4G>A (p.Ala2Thr)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001212291]\|Inborn genetic diseases [RCV002561783]	uncertain significance	3	49104730	49104730	Human	2	name
38473852	CV943608	single nucleotide variant	NM_005051.3(QARS1):c.2T>C (p.Met1Thr)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001231975]	pathogenic\|uncertain significance	3	49104732	49104732	Human	1	name
126917979	CV1042308	single nucleotide variant	NM_005051.3(QARS1):c.177G>A (p.Leu59=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001361468]	likely benign\|uncertain significance	3	49104412	49104412	Human	1	name
127283079	CV1092680	single nucleotide variant	NM_005051.3(QARS1):c.282G>A (p.Val94=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001448254]	likely benign	3	49103956	49103956	Human	1	name
127232066	CV1092681	single nucleotide variant	NM_005051.3(QARS1):c.270C>T (p.Ala90=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001421133]	likely benign	3	49103968	49103968	Human	1	name
127336299	CV1135085	single nucleotide variant	NM_005051.3(QARS1):c.183C>T (p.Ser61=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001492066]	likely benign	3	49104406	49104406	Human	1	name
150428387	CV1186628	single nucleotide variant	NM_005051.3(QARS1):c.17C>T (p.Ser6Phe)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002570734]\|not provided [RCV001562199]	uncertain significance	3	49104717	49104717	Human	1	name
151795891	CV1471120	single nucleotide variant	NM_005051.3(QARS1):c.25C>G (p.Leu9Val)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002560683]	uncertain significance	3	49104709	49104709	Human	1	name
152139262	CV1559933	single nucleotide variant	NM_005051.3(QARS1):c.207C>T (p.Leu69=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003081001]	likely benign	3	49104382	49104382	Human	1	name
152044366	CV1584276	single nucleotide variant	NM_005051.3(QARS1):c.138C>T (p.Ser46=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002552362]	likely benign	3	49104451	49104451	Human	1	name
155961595	CV1884874	single nucleotide variant	NM_005051.3(QARS1):c.10C>G (p.Leu4Val)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003074711]	uncertain significance	3	49104724	49104724	Human	1	name
156438420	CV1947024	single nucleotide variant	NM_005051.3(QARS1):c.243C>A (p.Ile81=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003108362]	likely benign	3	49104346	49104346	Human	1	name
156206162	CV1959297	single nucleotide variant	NM_005051.3(QARS1):c.156C>T (p.Thr52=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002574965]	likely benign	3	49104433	49104433	Human	1	name
156045912	CV2059838	single nucleotide variant	NM_005051.3(QARS1):c.159G>A (p.Gly53=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002796605]	likely benign	3	49104430	49104430	Human	1	name
156223634	CV2168507	single nucleotide variant	NM_005051.3(QARS1):c.135T>C (p.Gly45=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003042818]	likely benign	3	49104454	49104454	Human	1	name
156198662	CV2365154	single nucleotide variant	NM_005051.3(QARS1):c.19C>G (p.Leu7Val)	Inborn genetic diseases [RCV002985065]	uncertain significance	3	49104715	49104715	Human	1	name
405248416	CV2953177	single nucleotide variant	NM_005051.3(QARS1):c.195T>C (p.Asp65=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003746790]	likely benign	3	49104394	49104394	Human	1	name
405246675	CV3006937	single nucleotide variant	NM_005051.3(QARS1):c.273T>C (p.Leu91=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003746073]	likely benign	3	49103965	49103965	Human	1	name
405246768	CV3014279	single nucleotide variant	NM_005051.3(QARS1):c.259C>T (p.Leu87=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003746111]	likely benign	3	49104330	49104330	Human	1	name
405101496	CV3144339	single nucleotide variant	NM_005051.3(QARS1):c.255C>G (p.Pro85=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003852792]	likely benign	3	49104334	49104334	Human	1	name
12839059	CV367690	single nucleotide variant	NM_005051.3(QARS1):c.295T>C (p.Leu99=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001468075]\|not specified [RCV000428120]	likely benign	3	49103943	49103943	Human	1	name
12833483	CV368710	single nucleotide variant	NM_005051.3(QARS1):c.243C>T (p.Ile81=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002522494]\|not specified [RCV000418593]	likely benign	3	49104346	49104346	Human	1	name
597972153	CV3829484	single nucleotide variant	NM_005051.3(QARS1):c.180C>T (p.Ala60=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005167271]	likely benign	3	49104409	49104409	Human	1	name
597925024	CV3840493	single nucleotide variant	NM_005051.3(QARS1):c.130C>T (p.Leu44=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005184964]	likely benign	3	49104459	49104459	Human	1	name
13813778	CV559030	single nucleotide variant	NM_005051.3(QARS1):c.11T>C (p.Leu4Pro)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005092039]	uncertain significance	3	49104723	49104723	Human	1	name
38498722	CV943607	single nucleotide variant	NM_005051.3(QARS1):c.23C>T (p.Ser8Leu)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001227929]\|Inborn genetic diseases [RCV003259178]	uncertain significance	3	49104711	49104711	Human	2	name
126736397	CV1004830	single nucleotide variant	NM_005051.3(QARS1):c.35G>A (p.Ser12Asn)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001324658]	uncertain significance	3	49104699	49104699	Human	1	name
126764067	CV1025360	single nucleotide variant	NM_005051.3(QARS1):c.32C>G (p.Thr11Ser)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001341517]	uncertain significance	3	49104702	49104702	Human	1	name
126921303	CV1042309	single nucleotide variant	NM_005051.3(QARS1):c.64G>A (p.Glu22Lys)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001374313]	uncertain significance	3	49104670	49104670	Human	1	name
127270201	CV1071021	single nucleotide variant	NM_005051.3(QARS1):c.765G>A (p.Gln255=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001404915]	likely benign	3	49101644	49101644	Human	1	name
127242784	CV1071024	single nucleotide variant	NM_005051.3(QARS1):c.567C>T (p.Phe189=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001393400]	likely benign	3	49102422	49102422	Human	1	name
127249163	CV1071025	single nucleotide variant	NM_005051.3(QARS1):c.469C>T (p.Leu157=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001399545]	likely benign	3	49103392	49103392	Human	1	name
127277853	CV1071026	single nucleotide variant	NM_005051.3(QARS1):c.417G>A (p.Val139=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001408089]	likely benign	3	49103665	49103665	Human	1	name
127236994	CV1071027	single nucleotide variant	NM_005051.3(QARS1):c.321C>T (p.Phe107=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001397012]	likely benign	3	49103917	49103917	Human	1	name
127235482	CV1092678	single nucleotide variant	NM_005051.3(QARS1):c.633C>G (p.Gly211=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001433111]	likely benign	3	49101898	49101898	Human	1	name
127283801	CV1092679	single nucleotide variant	NM_005051.3(QARS1):c.471G>C (p.Leu157=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001448759]	likely benign	3	49103390	49103390	Human	1	name
151751172	CV1370649	single nucleotide variant	NM_005051.3(QARS1):c.96G>T (p.Gln32His)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002547976]	uncertain significance	3	49104638	49104638	Human	1	name
151890952	CV1473177	single nucleotide variant	NM_005051.3(QARS1):c.315G>A (p.Val105=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002552234]	likely benign\|uncertain significance	3	49103923	49103923	Human	1	name
151768174	CV1486156	single nucleotide variant	NM_005051.3(QARS1):c.973C>T (p.Leu325=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002545703]	uncertain significance	3	49100578	49100578	Human	1	name
151843726	CV1510939	single nucleotide variant	NM_005051.3(QARS1):c.31A>G (p.Thr11Ala)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002569227]	uncertain significance	3	49104703	49104703	Human	1	name
152046691	CV1519656	single nucleotide variant	NM_005051.3(QARS1):c.306C>T (p.Ile102=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003033322]	likely benign	3	49103932	49103932	Human	1	name
152067601	CV1529391	single nucleotide variant	NM_005051.3(QARS1):c.924G>A (p.Glu308=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003081077]	likely benign	3	49100627	49100627	Human	1	name
152149022	CV1545317	single nucleotide variant	NM_005051.3(QARS1):c.408G>A (p.Gln136=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003107964]	likely benign	3	49103674	49103674	Human	1	name
152062755	CV1563354	single nucleotide variant	NM_005051.3(QARS1):c.753T>C (p.Asn251=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002561588]	likely benign	3	49101656	49101656	Human	1	name
152091301	CV1594276	single nucleotide variant	NM_005051.3(QARS1):c.756A>G (p.Leu252=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003088992]	likely benign	3	49101653	49101653	Human	1	name
152053379	CV1595810	single nucleotide variant	NM_005051.3(QARS1):c.522C>T (p.Leu174=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002552366]	likely benign	3	49102467	49102467	Human	1	name
152163257	CV1606459	single nucleotide variant	NM_005051.3(QARS1):c.757C>T (p.Leu253=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003081094]	likely benign	3	49101652	49101652	Human	1	name
152131867	CV1633235	single nucleotide variant	NM_005051.3(QARS1):c.405C>T (p.Pro135=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003025445]	likely benign	3	49103677	49103677	Human	1	name
152157960	CV1639489	single nucleotide variant	NM_005051.3(QARS1):c.384T>C (p.Ala128=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002562247]	likely benign	3	49103698	49103698	Human	1	name
152097680	CV1639711	single nucleotide variant	NM_005051.3(QARS1):c.939G>A (p.Lys313=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003007027]	likely benign	3	49100612	49100612	Human	1	name
155645592	CV1708981	single nucleotide variant	NM_005051.3(QARS1):c.47G>C (p.Ser16Thr)	not provided [RCV002291857]	uncertain significance	3	49104687	49104687	Human		name
156253961	CV2025859	single nucleotide variant	NM_005051.3(QARS1):c.372G>A (p.Glu124=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002746086]	likely benign	3	49103866	49103866	Human	1	name
156168926	CV2041445	single nucleotide variant	NM_005051.3(QARS1):c.552T>C (p.Asp184=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002741800]	likely benign	3	49102437	49102437	Human	1	name
155990116	CV2053261	single nucleotide variant	NM_005051.3(QARS1):c.471G>A (p.Leu157=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002819167]	likely benign	3	49103390	49103390	Human	1	name
156195305	CV2083083	single nucleotide variant	NM_005051.3(QARS1):c.414G>A (p.Leu138=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002852272]	likely benign	3	49103668	49103668	Human	1	name
156309055	CV2111138	single nucleotide variant	NM_005051.3(QARS1):c.411C>G (p.Leu137=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002937058]	likely benign	3	49103671	49103671	Human	1	name
156221436	CV2144175	single nucleotide variant	NM_005051.3(QARS1):c.336C>T (p.Gly112=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003007397]	likely benign	3	49103902	49103902	Human	1	name
156107806	CV2161068	single nucleotide variant	NM_005051.3(QARS1):c.555G>A (p.Leu185=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003038823]	likely benign	3	49102434	49102434	Human	1	name
156141540	CV2167714	single nucleotide variant	NM_005051.3(QARS1):c.615G>A (p.Lys205=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003022537]	likely benign	3	49102221	49102221	Human	1	name
156213648	CV2176441	single nucleotide variant	NM_005051.3(QARS1):c.61C>A (p.Arg21Ser)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003024906]	uncertain significance	3	49104673	49104673	Human	1	name
11348522	CV239240	single nucleotide variant	NM_005051.3(QARS1):c.933A>G (p.Glu311=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001467048]	likely benign	3	49100618	49100618	Human	1	name
405136092	CV2902216	single nucleotide variant	NM_005051.3(QARS1):c.921T>C (p.Pro307=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003583655]	likely benign	3	49100630	49100630	Human	1	name
405138335	CV2914068	single nucleotide variant	NM_005051.3(QARS1):c.981C>T (p.Tyr327=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003583853]	likely benign	3	49100454	49100454	Human	1	name
405139355	CV2927082	single nucleotide variant	NM_005051.3(QARS1):c.442C>T (p.Leu148=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003583981]	likely benign	3	49103640	49103640	Human	1	name
405248637	CV2948745	single nucleotide variant	NM_005051.3(QARS1):c.675G>T (p.Arg225=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003746765]	likely benign	3	49101856	49101856	Human	1	name
405248546	CV2951163	single nucleotide variant	NM_005051.3(QARS1):c.345C>A (p.Val115=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003746831]	likely benign	3	49103893	49103893	Human	1	name
405248487	CV2957495	single nucleotide variant	NM_005051.3(QARS1):c.666G>A (p.Glu222=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003746811]	likely benign	3	49101865	49101865	Human	1	name
405248907	CV2961442	single nucleotide variant	NM_005051.3(QARS1):c.918C>T (p.Asn306=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003746835]	likely benign	3	49100633	49100633	Human	1	name
405249569	CV2979634	single nucleotide variant	NM_005051.3(QARS1):c.858C>T (p.Phe286=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003747182]	likely benign	3	49101373	49101373	Human	1	name
405249700	CV2984619	single nucleotide variant	NM_005051.3(QARS1):c.996C>T (p.Val332=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003747077]	likely benign	3	49100439	49100439	Human	1	name
405249807	CV2992415	single nucleotide variant	NM_005051.3(QARS1):c.420A>G (p.Glu140=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003747281]	likely benign	3	49103662	49103662	Human	1	name
405246792	CV3021612	single nucleotide variant	NM_005051.3(QARS1):c.846A>G (p.Lys282=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003746121]	likely benign	3	49101385	49101385	Human	1	name
405668270	CV3308245	single nucleotide variant	NM_005051.3(QARS1):c.35G>T (p.Ser12Ile)	Inborn genetic diseases [RCV004440717]	uncertain significance	3	49104699	49104699	Human	1	name
405668275	CV3308246	single nucleotide variant	NM_005051.3(QARS1):c.68C>G (p.Thr23Arg)	Inborn genetic diseases [RCV004440718]	uncertain significance	3	49104666	49104666	Human	1	name
407473989	CV3464961	single nucleotide variant	NM_005051.3(QARS1):c.37C>T (p.Leu13Phe)	Inborn genetic diseases [RCV004662885]	uncertain significance	3	49104697	49104697	Human	1	name
407499560	CV3464965	single nucleotide variant	NM_005051.3(QARS1):c.97C>A (p.Leu33Met)	Inborn genetic diseases [RCV004669342]	uncertain significance	3	49104637	49104637	Human	1	name
12845316	CV367284	single nucleotide variant	NM_005051.3(QARS1):c.837A>T (p.Gly279=)	not specified [RCV000439598]	likely benign	3	49101394	49101394	Human		name
12836227	CV367290	single nucleotide variant	NM_005051.3(QARS1):c.741A>G (p.Pro247=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001445637]\|not provided [RCV000655206]	likely benign	3	49101668	49101668	Human	1	name
12836524	CV367292	single nucleotide variant	NM_005051.3(QARS1):c.495C>T (p.Ile165=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001486568]\|not specified [RCV000423541]	likely benign	3	49103366	49103366	Human	1	name
12842893	CV367670	single nucleotide variant	NM_005051.3(QARS1):c.969C>T (p.Ala323=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002519554]\|not provided [RCV001720173]	likely benign	3	49100582	49100582	Human	1	name
12838833	CV367672	single nucleotide variant	NM_005051.3(QARS1):c.960C>T (p.Asp320=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001405357]\|not specified [RCV000427693]	likely benign	3	49100591	49100591	Human	1	name
12848099	CV367686	single nucleotide variant	NM_005051.3(QARS1):c.399C>T (p.His133=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001511072]\|not provided [RCV004716429]\|not specified [RCV000444678]	benign	3	49103683	49103683	Human	1	name
12844001	CV368689	single nucleotide variant	NM_005051.3(QARS1):c.693C>T (p.Phe231=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002525366]\|not specified [RCV000437226]	likely benign	3	49101838	49101838	Human	1	name
12841997	CV368698	single nucleotide variant	NM_005051.3(QARS1):c.549T>C (p.Ala183=)	not specified [RCV000433601]	likely benign	3	49102440	49102440	Human		name
597939668	CV3788570	single nucleotide variant	NM_005051.3(QARS1):c.915C>T (p.Thr305=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005133245]	likely benign	3	49100636	49100636	Human	1	name
597961889	CV3795297	single nucleotide variant	NM_005051.3(QARS1):c.456G>A (p.Glu152=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005138989]	likely benign	3	49103405	49103405	Human	1	name
597957929	CV3796843	single nucleotide variant	NM_005051.3(QARS1):c.426C>T (p.Tyr142=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005137741]	likely benign	3	49103656	49103656	Human	1	name
597905225	CV3803853	single nucleotide variant	NM_005051.3(QARS1):c.94C>T (p.Gln32Ter)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005153398]	pathogenic	3	49104640	49104640	Human	1	name
597936144	CV3811407	single nucleotide variant	NM_005051.3(QARS1):c.759A>G (p.Leu253=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005157922]	likely benign	3	49101650	49101650	Human	1	name
597858847	CV3850253	single nucleotide variant	NM_005051.3(QARS1):c.999A>G (p.Thr333=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005195586]	likely benign	3	49100436	49100436	Human	1	name
597907642	CV3853605	single nucleotide variant	NM_005051.3(QARS1):c.378G>A (p.Val126=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005203085]	likely benign	3	49103704	49103704	Human	1	name
12881697	CV393643	single nucleotide variant	NM_005051.3(QARS1):c.591A>G (p.Glu197=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003746523]	likely benign	3	49102245	49102245	Human	1	name
12890165	CV393651	single nucleotide variant	NM_005051.3(QARS1):c.339G>A (p.Val113=)	not provided [RCV001865417]	uncertain significance	3	49103899	49103899	Human		name
13213174	CV428205	single nucleotide variant	NM_005051.3(QARS1):c.780T>C (p.Thr260=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001418294]\|not provided [RCV000655207]\|not specified [RCV000499659]	likely benign	3	49101629	49101629	Human	1	name
13491761	CV452774	single nucleotide variant	NM_005051.3(QARS1):c.633C>T (p.Gly211=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003746541]	likely benign\|uncertain significance	3	49101898	49101898	Human	1	name
13474894	CV452776	single nucleotide variant	NM_005051.3(QARS1):c.83C>A (p.Ala28Asp)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV000526038]\|not provided [RCV001547476]	uncertain significance	3	49104651	49104651	Human	1	name
13478364	CV452836	single nucleotide variant	NM_005051.3(QARS1):c.828G>A (p.Leu276=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001450202]	likely benign	3	49101403	49101403	Human	1	name
13536483	CV500902	single nucleotide variant	NM_005051.3(QARS1):c.687T>G (p.Leu229=)	not specified [RCV000609066]	likely benign	3	49101844	49101844	Human		name
13533950	CV500909	single nucleotide variant	NM_005051.3(QARS1):c.609G>A (p.Thr203=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001415331]\|not provided [RCV000917905]	likely benign	3	49102227	49102227	Human	1	name
13532250	CV511501	single nucleotide variant	NM_005051.3(QARS1):c.40G>A (p.Gly14Ser)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002531887]\|Inborn genetic diseases [RCV000624033]	uncertain significance	3	49104694	49104694	Human	2	name
13626685	CV519409	single nucleotide variant	NM_005051.3(QARS1):c.720C>T (p.Thr240=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001428189]\|not provided [RCV000655204]	likely benign	3	49101689	49101689	Human	1	name
15145725	CV686433	single nucleotide variant	NM_005051.3(QARS1):c.948G>A (p.Thr316=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001441170]	likely benign	3	49100603	49100603	Human	1	name
15153430	CV686434	single nucleotide variant	NM_005051.3(QARS1):c.807G>A (p.Pro269=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001412543]	likely benign	3	49101424	49101424	Human	1	name
26906183	CV828295	single nucleotide variant	NM_005051.3(QARS1):c.92C>T (p.Ala31Val)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001061754]\|not provided [RCV004792699]	uncertain significance	3	49104642	49104642	Human	1	name
38492178	CV923255	single nucleotide variant	NM_005051.3(QARS1):c.90C>G (p.Ser30Arg)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001223367]	uncertain significance	3	49104644	49104644	Human	1	name
38497145	CV943606	single nucleotide variant	NM_005051.3(QARS1):c.90C>A (p.Ser30Arg)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001226875]	uncertain significance	3	49104644	49104644	Human	1	name
38491651	CV953522	deletion	NM_005051.3(QARS1):c.256del (p.Gln86fs)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001239582]	pathogenic	3	49104333	49104333	Human	1	name
126754417	CV1004829	single nucleotide variant	NM_005051.3(QARS1):c.140C>T (p.Thr47Ile)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001327504]\|Inborn genetic diseases [RCV003284204]	uncertain significance	3	49104449	49104449	Human	2	name
126766602	CV1025359	single nucleotide variant	NM_005051.3(QARS1):c.277T>C (p.Tyr93His)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001342492]	uncertain significance	3	49103961	49103961	Human	1	name
126912351	CV1042307	single nucleotide variant	NM_005051.3(QARS1):c.296T>C (p.Leu99Ser)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001369690]	uncertain significance	3	49103942	49103942	Human	1	name
127270434	CV1059845	deletion	NM_005051.3(QARS1):c.679del (p.Glu227fs)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001389844]	pathogenic	3	49101852	49101852	Human	1	name
127247719	CV1071020	single nucleotide variant	NM_005051.3(QARS1):c.2250C>T (p.Ser750=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001416956]	likely benign	3	49098019	49098019	Human	1	name
127265990	CV1092674	single nucleotide variant	NM_005051.3(QARS1):c.2073C>T (p.Leu691=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001429284]	likely benign	3	49098364	49098364	Human	1	name
127270741	CV1092675	single nucleotide variant	NM_005051.3(QARS1):c.1723C>T (p.Leu575=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001430717]	likely benign	3	49099145	49099145	Human	1	name
127256862	CV1092676	single nucleotide variant	NM_005051.3(QARS1):c.1701A>G (p.Arg567=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001426920]	likely benign	3	49099167	49099167	Human	1	name
127234076	CV1092677	single nucleotide variant	NM_005051.3(QARS1):c.1362A>G (p.Ser454=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001421947]	likely benign	3	49099787	49099787	Human	1	name
127329926	CV1114187	single nucleotide variant	NM_005051.3(QARS1):c.2220G>A (p.Lys740=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001470494]	likely benign	3	49098049	49098049	Human	1	name
127330123	CV1114188	single nucleotide variant	NM_005051.3(QARS1):c.2193T>C (p.Ser731=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001470673]	likely benign	3	49098076	49098076	Human	1	name
127302505	CV1114189	single nucleotide variant	NM_005051.3(QARS1):c.2046A>C (p.Ser682=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001461649]	likely benign	3	49098391	49098391	Human	1	name
127301363	CV1114190	single nucleotide variant	NM_005051.3(QARS1):c.1641A>G (p.Thr547=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001454118]	likely benign	3	49099227	49099227	Human	1	name
127336436	CV1114191	single nucleotide variant	NM_005051.3(QARS1):c.1329C>T (p.Cys443=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001474941]	likely benign	3	49099820	49099820	Human	1	name
127337909	CV1135076	single nucleotide variant	NM_005051.3(QARS1):c.2097G>A (p.Lys699=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001493264]	likely benign	3	49098246	49098246	Human	1	name
127336047	CV1135077	single nucleotide variant	NM_005051.3(QARS1):c.2031T>C (p.Phe677=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001491908]	likely benign	3	49098406	49098406	Human	1	name
127290518	CV1135078	single nucleotide variant	NM_005051.3(QARS1):c.2028C>T (p.Ala676=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001495997]	likely benign	3	49098409	49098409	Human	1	name
127316224	CV1135079	single nucleotide variant	NM_005051.3(QARS1):c.1929C>T (p.Tyr643=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001482744]	likely benign	3	49098627	49098627	Human	1	name
127324790	CV1135082	single nucleotide variant	NM_005051.3(QARS1):c.1203A>G (p.Thr401=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001485571]	likely benign	3	49100053	49100053	Human	1	name
127303242	CV1135083	single nucleotide variant	NM_005051.3(QARS1):c.1002T>C (p.Tyr334=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001499342]	likely benign	3	49100433	49100433	Human	1	name
150549696	CV1301149	single nucleotide variant	NM_005051.3(QARS1):c.149A>G (p.Lys50Arg)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005094994]\|not provided [RCV001765290]	uncertain significance	3	49104440	49104440	Human	1	name
8658689	CV132625	single nucleotide variant	NM_005051.3(QARS1):c.169T>C (p.Tyr57His)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV000114974]\|not provided [RCV004597742]	pathogenic\|likely pathogenic	3	49104420	49104420	Human	1	name
151754410	CV1340065	single nucleotide variant	NM_005051.3(QARS1):c.274G>C (p.Glu92Gln)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002551029]	uncertain significance	3	49103964	49103964	Human	1	name
151753676	CV1342949	single nucleotide variant	NM_005051.3(QARS1):c.1560G>A (p.Thr520=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002551163]	uncertain significance	3	49099398	49099398	Human	1	name
151854833	CV1344439	single nucleotide variant	NM_005051.3(QARS1):c.253C>T (p.Pro85Ser)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002556330]	uncertain significance	3	49104336	49104336	Human	1	name
151833456	CV1348278	single nucleotide variant	NM_005051.3(QARS1):c.200G>A (p.Arg67Gln)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002547938]	uncertain significance	3	49104389	49104389	Human	1	name
151822180	CV1351977	single nucleotide variant	NM_005051.3(QARS1):c.253C>A (p.Pro85Thr)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002545508]	uncertain significance	3	49104336	49104336	Human	1	name
151885835	CV1367026	single nucleotide variant	NM_005051.3(QARS1):c.155C>T (p.Thr52Ile)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002579555]	uncertain significance	3	49104434	49104434	Human	1	name
151719372	CV1373727	single nucleotide variant	NM_005051.3(QARS1):c.250G>A (p.Glu84Lys)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002553555]	uncertain significance	3	49104339	49104339	Human	1	name
151771302	CV1380342	single nucleotide variant	NM_005051.3(QARS1):c.199C>G (p.Arg67Gly)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002592527]	uncertain significance	3	49104390	49104390	Human	1	name
151794994	CV1435554	single nucleotide variant	NM_005051.3(QARS1):c.187C>G (p.Leu63Val)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002561563]	uncertain significance	3	49104402	49104402	Human	1	name
151885892	CV1445122	single nucleotide variant	NM_005051.3(QARS1):c.1314C>T (p.Tyr438=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002563639]	likely benign	3	49099835	49099835	Human	1	name
151867153	CV1468990	single nucleotide variant	NM_005051.3(QARS1):c.1194C>T (p.Gly398=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002548782]	likely benign\|uncertain significance	3	49100062	49100062	Human	1	name
151851872	CV1476034	single nucleotide variant	NM_005051.3(QARS1):c.226A>G (p.Ile76Val)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002642032]	uncertain significance	3	49104363	49104363	Human	1	name
151763898	CV1478338	single nucleotide variant	NM_005051.3(QARS1):c.1026A>G (p.Leu342=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002579631]	likely benign\|uncertain significance	3	49100409	49100409	Human	1	name
151878006	CV1483248	single nucleotide variant	NM_005051.3(QARS1):c.184C>T (p.Arg62Ter)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002552303]	pathogenic	3	49104405	49104405	Human	1	name
151739361	CV1492308	deletion	NM_005051.3(QARS1):c.441del (p.Leu148fs)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002545414]	pathogenic	3	49103641	49103641	Human	1	name
152148583	CV1528898	single nucleotide variant	NM_005051.3(QARS1):c.1176G>A (p.Lys392=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003053417]	likely benign	3	49100080	49100080	Human	1	name
152129584	CV1550797	single nucleotide variant	NM_005051.3(QARS1):c.1746T>C (p.Phe582=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003025487]	likely benign	3	49099122	49099122	Human	1	name
152065317	CV1576288	single nucleotide variant	NM_005051.3(QARS1):c.1221G>A (p.Val407=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002561605]	likely benign	3	49100035	49100035	Human	1	name
152142649	CV1607388	single nucleotide variant	NM_005051.3(QARS1):c.2163C>T (p.His721=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003015288]	likely benign	3	49098106	49098106	Human	1	name
152160974	CV1619254	single nucleotide variant	NM_005051.3(QARS1):c.2166G>T (p.Val722=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002552989]	likely benign	3	49098103	49098103	Human	1	name
152145238	CV1661529	single nucleotide variant	NM_005051.3(QARS1):c.1578C>T (p.Gly526=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002552999]	likely benign	3	49099380	49099380	Human	1	name
153302447	CV1688235	single nucleotide variant	NM_005051.3(QARS1):c.151G>C (p.Ala51Pro)	not provided [RCV002265461]	uncertain significance	3	49104438	49104438	Human		name
153347905	CV1694954	single nucleotide variant	NM_005051.3(QARS1):c.262A>C (p.Ser88Arg)	not provided [RCV002278884]	uncertain significance	3	49104327	49104327	Human		name
156330342	CV1877403	single nucleotide variant	NM_005051.3(QARS1):c.1564C>T (p.Leu522=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003063656]	likely benign	3	49099394	49099394	Human	1	name
156249775	CV1886957	single nucleotide variant	NM_005051.3(QARS1):c.2154A>G (p.Ala718=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003086061]	likely benign	3	49098115	49098115	Human	1	name
156036306	CV1890203	single nucleotide variant	NM_005051.3(QARS1):c.1830C>T (p.Pro610=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003078330]	likely benign	3	49098918	49098918	Human	1	name
156381070	CV1893602	single nucleotide variant	NM_005051.3(QARS1):c.1420C>T (p.Leu474=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003093277]	likely benign	3	49099616	49099616	Human	1	name
156296702	CV1923289	deletion	NM_005051.3(QARS1):c.406del (p.Gln136fs)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002647438]	pathogenic	3	49103676	49103676	Human	1	name
156439087	CV1943955	single nucleotide variant	NM_005051.3(QARS1):c.1038T>C (p.Ala346=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003109040]	likely benign	3	49100397	49100397	Human	1	name
156306528	CV1966479	single nucleotide variant	NM_005051.3(QARS1):c.1854C>T (p.Asp618=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002578474]	likely benign	3	49098894	49098894	Human	1	name
156375732	CV2000198	single nucleotide variant	NM_005051.3(QARS1):c.2325G>A (p.Val775=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002653275]	likely benign	3	49096032	49096032	Human	1	name
156142676	CV2002829	single nucleotide variant	NM_005051.3(QARS1):c.2313C>T (p.Asp771=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002663625]	likely benign	3	49096044	49096044	Human	1	name
156203557	CV2004306	single nucleotide variant	NM_005051.3(QARS1):c.1005G>T (p.Ala335=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002666582]	likely benign	3	49100430	49100430	Human	1	name
156067896	CV2054617	single nucleotide variant	NM_005051.3(QARS1):c.1347G>A (p.Glu449=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002797311]	likely benign	3	49099802	49099802	Human	1	name
156030815	CV2059126	single nucleotide variant	NM_005051.3(QARS1):c.1242C>T (p.Asp414=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002796043]	likely benign	3	49100014	49100014	Human	1	name
155970670	CV2062449	single nucleotide variant	NM_005051.3(QARS1):c.202C>G (p.Arg68Gly)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002842062]	uncertain significance	3	49104387	49104387	Human	1	name
155942483	CV2072268	single nucleotide variant	NM_005051.3(QARS1):c.2052T>A (p.Pro684=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002861870]	likely benign	3	49098385	49098385	Human	1	name
156037551	CV2089471	single nucleotide variant	NM_005051.3(QARS1):c.1278C>T (p.His426=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002867308]	likely benign	3	49099978	49099978	Human	1	name
156268077	CV2097216	single nucleotide variant	NM_005051.3(QARS1):c.1437T>C (p.Pro479=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002877509]	likely benign	3	49099599	49099599	Human	1	name
155981575	CV2098056	single nucleotide variant	NM_005051.3(QARS1):c.2136A>G (p.Leu712=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002907732]	likely benign	3	49098207	49098207	Human	1	name
156140559	CV2116718	single nucleotide variant	NM_005051.3(QARS1):c.1761C>T (p.Ser587=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002914891]	likely benign	3	49098987	49098987	Human	1	name
156022062	CV2148250	single nucleotide variant	NM_005051.3(QARS1):c.1725A>G (p.Leu575=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003018279]	likely benign	3	49099143	49099143	Human	1	name
156127095	CV2155345	deletion	NM_005051.3(QARS1):c.352del (p.Thr118fs)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003003212]	pathogenic	3	49103886	49103886	Human	1	name
155965037	CV2155926	single nucleotide variant	NM_005051.3(QARS1):c.1011C>T (p.Asp337=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003015655]	likely benign	3	49100424	49100424	Human	1	name
155942760	CV2158298	single nucleotide variant	NM_005051.3(QARS1):c.1776G>A (p.Val592=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003014378]	likely benign	3	49098972	49098972	Human	1	name
156084864	CV2170495	single nucleotide variant	NM_005051.3(QARS1):c.1374G>A (p.Lys458=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003038012]	likely benign	3	49099775	49099775	Human	1	name
156134543	CV2181433	single nucleotide variant	NM_005051.3(QARS1):c.1539C>T (p.Asp513=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003039817]	likely benign	3	49099419	49099419	Human	1	name
156358923	CV2183936	single nucleotide variant	NM_005051.3(QARS1):c.2130A>C (p.Gly710=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003048880]	likely benign	3	49098213	49098213	Human	1	name
156154344	CV2190740	single nucleotide variant	NM_005051.3(QARS1):c.2103T>C (p.Pro701=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003040479]	likely benign	3	49098240	49098240	Human	1	name
156032680	CV2259656	single nucleotide variant	NM_005051.3(QARS1):c.140C>G (p.Thr47Ser)	Inborn genetic diseases [RCV002821168]	uncertain significance	3	49104449	49104449	Human	1	name
11350061	CV239238	single nucleotide variant	NM_005051.3(QARS1):c.1635A>G (p.Gln545=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001522762]\|not provided [RCV000712884]\|not specified [RCV000439079]	benign	3	49099233	49099233	Human	1	name
401875995	CV2750168	single nucleotide variant	NM_005051.3(QARS1):c.184C>G (p.Arg62Gly)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003333613]	uncertain significance	3	49104405	49104405	Human	1	name
405134266	CV2874390	single nucleotide variant	NM_005051.3(QARS1):c.2143C>T (p.Leu715=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003583360]	likely benign	3	49098200	49098200	Human	1	name
405135000	CV2886343	single nucleotide variant	NM_005051.3(QARS1):c.1489A>C (p.Arg497=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003583539]	likely benign	3	49099547	49099547	Human	1	name
405136913	CV2903437	single nucleotide variant	NM_005051.3(QARS1):c.1500C>T (p.Leu500=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003583736]	likely benign	3	49099536	49099536	Human	1	name
405248610	CV2958874	single nucleotide variant	NM_005051.3(QARS1):c.1965T>C (p.Ser655=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003746853]	likely benign	3	49098472	49098472	Human	1	name
405248655	CV2959110	single nucleotide variant	NM_005051.3(QARS1):c.1359C>T (p.His453=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003746868]	likely benign	3	49099790	49099790	Human	1	name
405249033	CV2968637	single nucleotide variant	NM_005051.3(QARS1):c.1695C>T (p.Ala565=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003746966]	likely benign	3	49099173	49099173	Human	1	name
405248999	CV2974992	single nucleotide variant	NM_005051.3(QARS1):c.228A>G (p.Ile76Met)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003746954]	uncertain significance	3	49104361	49104361	Human	1	name
405249078	CV2975481	single nucleotide variant	NM_005051.3(QARS1):c.2100C>T (p.Asn700=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003746981]	likely benign	3	49098243	49098243	Human	1	name
405249659	CV2997735	single nucleotide variant	NM_005051.3(QARS1):c.1455C>T (p.Gly485=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003747220]	likely benign	3	49099581	49099581	Human	1	name
405249721	CV3001674	single nucleotide variant	NM_005051.3(QARS1):c.1216C>T (p.Leu406=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003747247]	likely benign	3	49100040	49100040	Human	1	name
405250088	CV3012149	single nucleotide variant	NM_005051.3(QARS1):c.1704C>A (p.Ala568=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003747401]	likely benign	3	49099164	49099164	Human	1	name
405246799	CV3018119	single nucleotide variant	NM_005051.3(QARS1):c.2061T>C (p.Cys687=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003746124]	likely benign	3	49098376	49098376	Human	1	name
405246817	CV3028342	single nucleotide variant	NM_005051.3(QARS1):c.1153C>T (p.Leu385=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003746130]	likely benign	3	49100201	49100201	Human	1	name
405250546	CV3073263	single nucleotide variant	NM_005051.3(QARS1):c.2238T>C (p.Leu746=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003747575]	likely benign	3	49098031	49098031	Human	1	name
405250625	CV3076545	single nucleotide variant	NM_005051.3(QARS1):c.2004A>G (p.Ala668=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003747607]	likely benign	3	49098433	49098433	Human	1	name
405209179	CV3162569	single nucleotide variant	NM_005051.3(QARS1):c.1888C>T (p.Leu630=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003861868]	likely benign	3	49098668	49098668	Human	1	name
405214102	CV3169984	deletion	NM_005051.3(QARS1):c.786del (p.Gln263fs)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003862589]	pathogenic	3	49101623	49101623	Human	1	name
402524430	CV3175905	single nucleotide variant	NM_005051.3(QARS1):c.1029T>C (p.Tyr343=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003880005]	likely benign	3	49100406	49100406	Human	1	name
405668264	CV3308244	single nucleotide variant	NM_005051.3(QARS1):c.263G>T (p.Ser88Ile)	Inborn genetic diseases [RCV004440716]	uncertain significance	3	49104326	49104326	Human	1	name
407427374	CV3410635	duplication	NM_005051.3(QARS1):c.561dup (p.Lys188fs)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV004586282]	pathogenic	3	49102427	49102428	Human	1	name
596921132	CV3534749	single nucleotide variant	NM_005051.3(QARS1):c.127A>G (p.Thr43Ala)	not provided [RCV004784306]	uncertain significance	3	49104462	49104462	Human		name
596929903	CV3538644	single nucleotide variant	NM_005051.3(QARS1):c.278A>T (p.Tyr93Phe)	not provided [RCV004792113]	uncertain significance	3	49103960	49103960	Human		name
12846555	CV367640	single nucleotide variant	NM_005051.3(QARS1):c.1671G>T (p.Val557=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001509821]\|not provided [RCV004711060]\|not specified [RCV000441868]	benign\|likely benign	3	49099197	49099197	Human	1	name
12842405	CV367641	single nucleotide variant	NM_005051.3(QARS1):c.2172T>C (p.Asp724=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002521741]\|not provided [RCV000867938]	likely benign	3	49098097	49098097	Human	1	name
12835179	CV367655	single nucleotide variant	NM_005051.3(QARS1):c.1542A>G (p.Pro514=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001474067]\|not provided [RCV000528507]	likely benign	3	49099416	49099416	Human	1	name
12839486	CV367656	single nucleotide variant	NM_005051.3(QARS1):c.1650A>G (p.Pro550=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002521797]\|not specified [RCV000428904]	likely benign	3	49099218	49099218	Human	1	name
12846520	CV367658	single nucleotide variant	NM_005051.3(QARS1):c.1047C>T (p.Leu349=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001505334]\|Inborn genetic diseases [RCV004955481]\|not provided [RCV001720209]	likely benign	3	49100388	49100388	Human	2	name
597932414	CV3742510	single nucleotide variant	NM_005051.3(QARS1):c.2166G>A (p.Val722=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005075948]	likely benign	3	49098103	49098103	Human	1	name
597859036	CV3755901	single nucleotide variant	NM_005051.3(QARS1):c.1425C>T (p.Asp475=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005089052]	likely benign	3	49099611	49099611	Human	1	name
597908462	CV3773548	single nucleotide variant	NM_005051.3(QARS1):c.1465C>T (p.Leu489=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005113419]	likely benign	3	49099571	49099571	Human	1	name
597972262	CV3790200	single nucleotide variant	NM_005051.3(QARS1):c.1554A>G (p.Thr518=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005142623]	likely benign	3	49099404	49099404	Human	1	name
597933381	CV3793385	single nucleotide variant	NM_005051.3(QARS1):c.1476T>C (p.Ala492=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005132041]	likely benign	3	49099560	49099560	Human	1	name
597968271	CV3794951	single nucleotide variant	NM_005051.3(QARS1):c.1341C>T (p.Ser447=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005140919]	likely benign	3	49099808	49099808	Human	1	name
597952525	CV3815801	single nucleotide variant	NM_005051.3(QARS1):c.1482C>G (p.Val494=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005161554]	likely benign	3	49099554	49099554	Human	1	name
597963052	CV3819522	single nucleotide variant	NM_005051.3(QARS1):c.1416T>C (p.Asn472=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005164238]	likely benign	3	49099620	49099620	Human	1	name
597847524	CV3823984	single nucleotide variant	NM_005051.3(QARS1):c.1458C>T (p.Arg486=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005173223]	likely benign	3	49099578	49099578	Human	1	name
597874433	CV3846372	single nucleotide variant	NM_005051.3(QARS1):c.2124T>C (p.Pro708=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005177255]	likely benign	3	49098219	49098219	Human	1	name
597899899	CV3850864	single nucleotide variant	NM_005051.3(QARS1):c.1611C>T (p.Ala537=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005201848]	likely benign	3	49099347	49099347	Human	1	name
597919564	CV3861718	single nucleotide variant	NM_005051.3(QARS1):c.2046A>G (p.Ser682=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005204874]	likely benign	3	49098391	49098391	Human	1	name
12891255	CV393841	single nucleotide variant	NM_005051.3(QARS1):c.1200C>G (p.Ala400=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003583160]\|not provided [RCV001568842]	likely benign	3	49100056	49100056	Human	1	name
12887726	CV393848	single nucleotide variant	NM_005051.3(QARS1):c.185G>A (p.Arg62Gln)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003746521]	uncertain significance	3	49104404	49104404	Human	1	name
12906778	CV414945	single nucleotide variant	NM_005051.3(QARS1):c.1158C>T (p.Leu386=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003583164]\|not provided [RCV000489636]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	3	49100196	49100196	Human	1	name
12906425	CV414946	single nucleotide variant	NM_005051.3(QARS1):c.297G>C (p.Leu99Phe)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV000536631]\|Inborn genetic diseases [RCV004023261]\|not provided [RCV000489200]	uncertain significance	3	49103941	49103941	Human	2	name
13466758	CV452488	single nucleotide variant	NM_005051.3(QARS1):c.2238T>G (p.Leu746=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003746539]	likely benign	3	49098031	49098031	Human	1	name
13484489	CV452489	single nucleotide variant	NM_005051.3(QARS1):c.1846A>C (p.Arg616=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001457751]	likely benign	3	49098902	49098902	Human	1	name
13496755	CV452740	single nucleotide variant	NM_005051.3(QARS1):c.2250C>A (p.Ser750=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003583170]	likely benign\|uncertain significance	3	49098019	49098019	Human	1	name
13485841	CV452750	single nucleotide variant	NM_005051.3(QARS1):c.1726C>A (p.Arg576=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003746537]	likely benign	3	49099142	49099142	Human	1	name
13502304	CV452810	single nucleotide variant	NM_005051.3(QARS1):c.1788A>G (p.Pro596=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003583169]	likely benign	3	49098960	49098960	Human	1	name
13493167	CV452813	single nucleotide variant	NM_005051.3(QARS1):c.1506T>C (p.Leu502=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003746536]	likely benign	3	49099530	49099530	Human	1	name
13504337	CV453034	single nucleotide variant	NM_005051.3(QARS1):c.1452T>C (p.Tyr484=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001491320]	likely benign	3	49099584	49099584	Human	1	name
13493858	CV453040	single nucleotide variant	NM_005051.3(QARS1):c.130C>A (p.Leu44Met)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003583168]	uncertain significance	3	49104459	49104459	Human	1	name
13531090	CV500569	single nucleotide variant	NM_005051.3(QARS1):c.1923A>G (p.Thr641=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002528579]\|not specified [RCV000600935]	likely benign	3	49098633	49098633	Human	1	name
13528421	CV500770	single nucleotide variant	NM_005051.3(QARS1):c.2304G>A (p.Leu768=)	not specified [RCV000600045]	likely benign	3	49096053	49096053	Human		name
13532670	CV500786	single nucleotide variant	NM_005051.3(QARS1):c.1827A>C (p.Ala609=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002531185]\|not provided [RCV000867390]	likely benign	3	49098921	49098921	Human	1	name
13541011	CV500788	single nucleotide variant	NM_005051.3(QARS1):c.1122C>T (p.Pro374=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001397928]\|not specified [RCV000615541]	likely benign	3	49100232	49100232	Human	1	name
13540513	CV500790	single nucleotide variant	NM_005051.3(QARS1):c.1032G>A (p.Ala344=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002529475]\|not provided [RCV001697445]	likely benign	3	49100403	49100403	Human	1	name
13535333	CV500891	single nucleotide variant	NM_005051.3(QARS1):c.1398C>G (p.Ser466=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001440843]\|not specified [RCV000607701]	likely benign	3	49099638	49099638	Human	1	name
13626686	CV519388	single nucleotide variant	NM_005051.3(QARS1):c.1659A>G (p.Leu553=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV000655209]	likely benign	3	49099209	49099209	Human	1	name
13626680	CV519586	single nucleotide variant	NM_005051.3(QARS1):c.125A>C (p.Gln42Pro)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV000655198]\|not provided [RCV001855344]	uncertain significance	3	49104464	49104464	Human	1	name
13803115	CV559028	single nucleotide variant	NM_005051.3(QARS1):c.131T>C (p.Leu44Pro)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV000698883]	uncertain significance	3	49104458	49104458	Human	1	name
13812594	CV563053	single nucleotide variant	NM_005051.3(QARS1):c.232A>C (p.Ser78Arg)	not provided [RCV001861916]	uncertain significance	3	49104357	49104357	Human		name
13815759	CV563054	single nucleotide variant	NM_005051.3(QARS1):c.143T>C (p.Ile48Thr)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV000705908]\|Inborn genetic diseases [RCV002536404]\|not provided [RCV001585658]	uncertain significance	3	49104446	49104446	Human	2	name
14399191	CV614266	single nucleotide variant	NM_005051.3(QARS1):c.1479T>C (p.Val493=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003583175]\|not provided [RCV003227856]	likely benign\|uncertain significance	3	49099557	49099557	Human	1	name
15149519	CV686432	single nucleotide variant	NM_005051.3(QARS1):c.1005G>A (p.Ala335=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001426878]	likely benign	3	49100430	49100430	Human	1	name
15162626	CV686435	single nucleotide variant	NM_005051.3(QARS1):c.229G>A (p.Ala77Thr)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001401405]\|Inborn genetic diseases [RCV005260463]	likely benign\|uncertain significance	3	49104360	49104360	Human	2	name
15101467	CV720522	single nucleotide variant	NM_005051.3(QARS1):c.2253G>T (p.Val751=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001411721]	likely benign	3	49098016	49098016	Human	1	name
15136399	CV748359	single nucleotide variant	NM_005051.3(QARS1):c.1557C>T (p.Leu519=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003583185]	likely benign	3	49099401	49099401	Human	1	name
15138352	CV764001	single nucleotide variant	NM_005051.3(QARS1):c.2184G>C (p.Val728=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001449291]	likely benign	3	49098085	49098085	Human	1	name
15138464	CV781732	single nucleotide variant	NM_005051.3(QARS1):c.2091G>A (p.Gln697=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003746567]	likely benign	3	49098252	49098252	Human	1	name
15122248	CV781733	single nucleotide variant	NM_005051.3(QARS1):c.1563C>G (p.Ala521=)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002549560]	likely benign	3	49099395	49099395	Human	1	name
21068569	CV795448	single nucleotide variant	NM_005051.3(QARS1):c.2193T>A (p.Ser731=)	not provided [RCV000998074]	uncertain significance	3	49098076	49098076	Human		name
26907212	CV828291	single nucleotide variant	NM_005051.3(QARS1):c.248C>T (p.Thr83Ile)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001067955]	uncertain significance	3	49104341	49104341	Human	1	name
26900332	CV828292	single nucleotide variant	NM_005051.3(QARS1):c.232A>G (p.Ser78Gly)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001039144]	uncertain significance	3	49104357	49104357	Human	1	name
26907628	CV828293	single nucleotide variant	NM_005051.3(QARS1):c.205C>T (p.Leu69Phe)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001070309]	uncertain significance	3	49104384	49104384	Human	1	name
26906736	CV828294	single nucleotide variant	NM_005051.3(QARS1):c.101G>C (p.Arg34Pro)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001064941]	uncertain significance	3	49104633	49104633	Human	1	name
38493202	CV923251	single nucleotide variant	NM_005051.3(QARS1):c.214C>T (p.Leu72Phe)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001224111]	uncertain significance	3	49104375	49104375	Human	1	name
38494502	CV923252	single nucleotide variant	NM_005051.3(QARS1):c.209C>T (p.Ser70Phe)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001225022]	uncertain significance	3	49104380	49104380	Human	1	name
38479570	CV923253	single nucleotide variant	NM_005051.3(QARS1):c.128C>G (p.Thr43Ser)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001217171]\|not provided [RCV002254956]	uncertain significance	3	49104461	49104461	Human	1	name
38488176	CV923254	single nucleotide variant	NM_005051.3(QARS1):c.107C>T (p.Ala36Val)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001221097]\|not provided [RCV002254957]	uncertain significance	3	49104627	49104627	Human	1	name
38467572	CV932000	single nucleotide variant	NM_005051.3(QARS1):c.224A>G (p.Tyr75Cys)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001212974]	uncertain significance	3	49104365	49104365	Human	1	name
38469233	CV932001	single nucleotide variant	NM_005051.3(QARS1):c.107C>G (p.Ala36Gly)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001202373]	uncertain significance	3	49104627	49104627	Human	1	name
126759562	CV989650	single nucleotide variant	NM_005051.3(QARS1):c.264C>A (p.Ser88Arg)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001299523]	uncertain significance	3	49104325	49104325	Human	1	name
126750726	CV1004828	single nucleotide variant	NM_005051.3(QARS1):c.513G>A (p.Met171Ile)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001326778]	uncertain significance	3	49103348	49103348	Human	1	name
126726237	CV1025356	single nucleotide variant	NM_005051.3(QARS1):c.977G>A (p.Gly326Asp)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001348394]\|not provided [RCV004793451]	uncertain significance	3	49100458	49100458	Human	1	name
126769717	CV1025357	single nucleotide variant	NM_005051.3(QARS1):c.827T>C (p.Leu276Pro)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001344074]	uncertain significance	3	49101404	49101404	Human	1	name
126731554	CV1025358	single nucleotide variant	NM_005051.3(QARS1):c.321C>A (p.Phe107Leu)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001349447]\|not provided [RCV001814309]	uncertain significance	3	49103917	49103917	Human	1	name
126917281	CV1042303	single nucleotide variant	NM_005051.3(QARS1):c.611C>T (p.Ala204Val)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001371986]\|Inborn genetic diseases [RCV002550141]	uncertain significance	3	49102225	49102225	Human	2	name
126914564	CV1042305	single nucleotide variant	NM_005051.3(QARS1):c.518T>G (p.Val173Gly)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001359584]	uncertain significance	3	49102471	49102471	Human	1	name
126924347	CV1042306	single nucleotide variant	NM_005051.3(QARS1):c.422G>A (p.Arg141His)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001366930]	uncertain significance	3	49103660	49103660	Human	1	name
127265346	CV1059843	duplication	NM_005051.3(QARS1):c.1690dup (p.Thr564fs)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001381438]	pathogenic	3	49099177	49099178	Human	1	name
127287908	CV1152108	single nucleotide variant	NM_005051.3(QARS1):c.971G>T (p.Trp324Leu)	not provided [RCV001508143]	uncertain significance	3	49100580	49100580	Human		name
150529730	CV1292949	single nucleotide variant	NM_005051.3(QARS1):c.419A>G (p.Glu140Gly)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002538739]\|not provided [RCV001756342]	uncertain significance	3	49103663	49103663	Human	1	name
150550186	CV1302345	single nucleotide variant	NM_005051.3(QARS1):c.533G>T (p.Gly178Val)	not provided [RCV001752797]	likely pathogenic\|uncertain significance	3	49102456	49102456	Human		name
150555556	CV1304701	single nucleotide variant	NM_005051.3(QARS1):c.988T>A (p.Tyr330Asn)	not provided [RCV001772949]	uncertain significance	3	49100447	49100447	Human		name
151724082	CV1350691	single nucleotide variant	NM_005051.3(QARS1):c.625G>A (p.Glu209Lys)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002553666]	uncertain significance	3	49102211	49102211	Human	1	name
151868882	CV1352830	single nucleotide variant	NM_005051.3(QARS1):c.388A>G (p.Ile130Val)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003107878]	uncertain significance	3	49103694	49103694	Human	1	name
151770663	CV1366245	single nucleotide variant	NM_005051.3(QARS1):c.455A>C (p.Glu152Ala)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002560525]	uncertain significance	3	49103406	49103406	Human	1	name
151835968	CV1366997	single nucleotide variant	NM_005051.3(QARS1):c.793C>T (p.Arg265Cys)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002286436]\|not provided [RCV004719216]	likely pathogenic\|uncertain significance	3	49101438	49101438	Human	1	name
151760919	CV1380264	single nucleotide variant	NM_005051.3(QARS1):c.514C>T (p.Gln172Ter)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002569142]	pathogenic	3	49103347	49103347	Human	1	name
151865342	CV1381006	single nucleotide variant	NM_005051.3(QARS1):c.421C>T (p.Arg141Cys)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002548764]	uncertain significance	3	49103661	49103661	Human	1	name
151812976	CV1382546	single nucleotide variant	NM_005051.3(QARS1):c.511A>G (p.Met171Val)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002551213]	uncertain significance	3	49103350	49103350	Human	1	name
151755752	CV1387914	single nucleotide variant	NM_005051.3(QARS1):c.695A>G (p.His232Arg)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002569340]	uncertain significance	3	49101836	49101836	Human	1	name
151711517	CV1395108	single nucleotide variant	NM_005051.3(QARS1):c.943T>C (p.Phe315Leu)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002571295]	uncertain significance	3	49100608	49100608	Human	1	name
151744772	CV1401636	single nucleotide variant	NM_005051.3(QARS1):c.889A>G (p.Ile297Val)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002550403]	uncertain significance	3	49100662	49100662	Human	1	name
151742966	CV1405117	single nucleotide variant	NM_005051.3(QARS1):c.377T>C (p.Val126Ala)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002550393]	uncertain significance	3	49103705	49103705	Human	1	name
151831005	CV1414249	single nucleotide variant	NM_005051.3(QARS1):c.584G>A (p.Arg195Gln)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002551055]\|Inborn genetic diseases [RCV004953221]	uncertain significance	3	49102252	49102252	Human	2	name
151885738	CV1418156	single nucleotide variant	NM_005051.3(QARS1):c.992A>G (p.Lys331Arg)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002554231]	uncertain significance	3	49100443	49100443	Human	1	name
151756900	CV1426232	deletion	NM_005051.3(QARS1):c.1194del (p.Glu399fs)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002563621]	pathogenic	3	49100062	49100062	Human	1	name
151882745	CV1443285	deletion	NM_005051.3(QARS1):c.2293del (p.Thr765fs)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003132547]\|not provided [RCV002037202]	uncertain significance	3	49096064	49096064	Human	1	name
151782919	CV1454753	deletion	NM_005051.3(QARS1):c.1075del (p.His359fs)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002564380]	pathogenic	3	49100279	49100279	Human	1	name
151825093	CV1456626	single nucleotide variant	NM_005051.3(QARS1):c.839A>T (p.His280Leu)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002545314]	uncertain significance	3	49101392	49101392	Human	1	name
151714194	CV1469610	single nucleotide variant	NM_005051.3(QARS1):c.905T>C (p.Phe302Ser)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002552245]	uncertain significance	3	49100646	49100646	Human	1	name
151836615	CV1469635	single nucleotide variant	NM_005051.3(QARS1):c.833T>C (p.Ile278Thr)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002552247]	uncertain significance	3	49101398	49101398	Human	1	name
151795841	CV1471104	single nucleotide variant	NM_005051.3(QARS1):c.337G>C (p.Val113Leu)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002560681]	uncertain significance	3	49103901	49103901	Human	1	name
151833659	CV1479072	single nucleotide variant	NM_005051.3(QARS1):c.539A>G (p.Lys180Arg)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002545650]	uncertain significance	3	49102450	49102450	Human	1	name
151721598	CV1491746	single nucleotide variant	NM_005051.3(QARS1):c.979T>C (p.Tyr327His)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002592556]	uncertain significance	3	49100456	49100456	Human	1	name
155269012	CV1705842	single nucleotide variant	NM_005051.3(QARS1):c.839A>G (p.His280Arg)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002286497]	uncertain significance	3	49101392	49101392	Human	1	name
156031805	CV1893699	single nucleotide variant	NM_005051.3(QARS1):c.319T>C (p.Phe107Leu)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003078138]	uncertain significance	3	49103919	49103919	Human	1	name
156205008	CV1913106	single nucleotide variant	NM_005051.3(QARS1):c.895T>C (p.Phe299Leu)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002595848]\|not provided [RCV003128959]	uncertain significance	3	49100656	49100656	Human	1	name
156153889	CV1926060	single nucleotide variant	NM_005051.3(QARS1):c.806C>T (p.Pro269Leu)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002624105]	uncertain significance	3	49101425	49101425	Human	1	name
156036173	CV1932749	single nucleotide variant	NM_005051.3(QARS1):c.884A>G (p.Asn295Ser)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002637381]	uncertain significance	3	49100667	49100667	Human	1	name
156155123	CV1957627	single nucleotide variant	NM_005051.3(QARS1):c.737C>T (p.Thr246Ile)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002573029]	uncertain significance	3	49101672	49101672	Human	1	name
156416163	CV1966501	single nucleotide variant	NM_005051.3(QARS1):c.815C>G (p.Pro272Arg)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002589559]	uncertain significance	3	49101416	49101416	Human	1	name
156374225	CV2003844	single nucleotide variant	NM_005051.3(QARS1):c.725G>A (p.Gly242Asp)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002653155]	uncertain significance	3	49101684	49101684	Human	1	name
156299444	CV2017240	single nucleotide variant	NM_005051.3(QARS1):c.553C>A (p.Leu185Met)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002715992]\|not provided [RCV004763448]	uncertain significance	3	49102436	49102436	Human	1	name
156202172	CV2021273	single nucleotide variant	NM_005051.3(QARS1):c.991A>G (p.Lys331Glu)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002711439]	uncertain significance	3	49100444	49100444	Human	1	name
156032576	CV2029845	single nucleotide variant	NM_005051.3(QARS1):c.972G>A (p.Trp324Ter)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002735867]	pathogenic	3	49100579	49100579	Human	1	name
156302860	CV2079598	single nucleotide variant	NM_005051.3(QARS1):c.950C>T (p.Ala317Val)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002857258]	uncertain significance	3	49100601	49100601	Human	1	name
156223462	CV2080978	single nucleotide variant	NM_005051.3(QARS1):c.425A>T (p.Tyr142Phe)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002853297]	uncertain significance	3	49103657	49103657	Human	1	name
156003896	CV2103499	single nucleotide variant	NM_005051.3(QARS1):c.346A>G (p.Ile116Val)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002908763]\|not provided [RCV003228101]	uncertain significance	3	49103892	49103892	Human	1	name
156300224	CV2119464	single nucleotide variant	NM_005051.3(QARS1):c.862T>C (p.Phe288Leu)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002962109]	uncertain significance	3	49101369	49101369	Human	1	name
155948116	CV2127273	single nucleotide variant	NM_005051.3(QARS1):c.832A>G (p.Ile278Val)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002971703]\|Inborn genetic diseases [RCV004661519]	uncertain significance	3	49101399	49101399	Human	2	name
156108005	CV2181133	single nucleotide variant	NM_005051.3(QARS1):c.991A>C (p.Lys331Gln)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003054979]	uncertain significance	3	49100444	49100444	Human	1	name
156045287	CV2234398	single nucleotide variant	NM_005051.3(QARS1):c.484G>A (p.Gly162Ser)	Inborn genetic diseases [RCV002781689]	uncertain significance	3	49103377	49103377	Human	1	name
156133175	CV2235384	single nucleotide variant	NM_005051.3(QARS1):c.461G>T (p.Arg154Leu)	Inborn genetic diseases [RCV002763064]	uncertain significance	3	49103400	49103400	Human	1	name
156236189	CV2245494	single nucleotide variant	NM_005051.3(QARS1):c.956G>A (p.Cys319Tyr)	Inborn genetic diseases [RCV002767969]	likely benign	3	49100595	49100595	Human	1	name
156209976	CV2309599	single nucleotide variant	NM_005051.3(QARS1):c.596C>T (p.Thr199Ile)	Inborn genetic diseases [RCV002875394]	uncertain significance	3	49102240	49102240	Human	1	name
401766179	CV2718138	single nucleotide variant	NM_005051.3(QARS1):c.882C>A (p.Asn294Lys)	Inborn genetic diseases [RCV003282478]	uncertain significance	3	49100669	49100669	Human	1	name
401739724	CV2738619	single nucleotide variant	NM_005051.3(QARS1):c.851T>G (p.Ile284Ser)	not provided [RCV003318013]	uncertain significance	3	49101380	49101380	Human		name
401797989	CV2739167	single nucleotide variant	NM_005051.3(QARS1):c.869A>G (p.Tyr290Cys)	not provided [RCV003318815]	uncertain significance	3	49101362	49101362	Human		name
401916862	CV2829534	single nucleotide variant	NM_005051.3(QARS1):c.799C>T (p.Arg267Trp)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003778466]\|Inborn genetic diseases [RCV004961315]\|not provided [RCV003443578]	uncertain significance	3	49101432	49101432	Human	2	name
405096103	CV2854769	duplication	NM_005051.3(QARS1):c.1930dup (p.Val644fs)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003583258]	pathogenic	3	49098625	49098626	Human	1	name
405246603	CV3016750	single nucleotide variant	NM_005051.3(QARS1):c.818A>C (p.Asn273Thr)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003746050]\|not provided [RCV005241542]	uncertain significance	3	49101413	49101413	Human	1	name
407425082	CV3411097	single nucleotide variant	NM_005051.3(QARS1):c.322G>T (p.Glu108Ter)	not provided [RCV004588787]	likely pathogenic	3	49103916	49103916	Human		name
407499558	CV3464964	single nucleotide variant	NM_005051.3(QARS1):c.347T>C (p.Ile116Thr)	Inborn genetic diseases [RCV004669341]	likely benign	3	49103891	49103891	Human	1	name
407574518	CV3499529	single nucleotide variant	NM_005051.3(QARS1):c.326G>A (p.Arg109Gln)	not provided [RCV004719524]	uncertain significance	3	49103912	49103912	Human		name
408385867	CV3520393	single nucleotide variant	NM_005051.3(QARS1):c.313G>A (p.Val105Met)	not provided [RCV004760214]	uncertain significance	3	49103925	49103925	Human		name
596942083	CV3543970	single nucleotide variant	NM_005051.3(QARS1):c.733G>A (p.Val245Ile)	not specified [RCV004799960]	uncertain significance	3	49101676	49101676	Human		name
596942085	CV3543971	single nucleotide variant	NM_005051.3(QARS1):c.860A>G (p.Asn287Ser)	not specified [RCV004799961]	uncertain significance	3	49101371	49101371	Human		name
596939989	CV3550738	single nucleotide variant	NM_005051.3(QARS1):c.630T>A (p.Asn210Lys)	not provided [RCV004814638]	uncertain significance	3	49102206	49102206	Human		name
597706879	CV3592619	single nucleotide variant	NM_005051.3(QARS1):c.742C>T (p.His248Tyr)	Inborn genetic diseases [RCV004957439]	uncertain significance	3	49101667	49101667	Human	1	name
12837332	CV367282	single nucleotide variant	NM_005051.3(QARS1):c.854A>G (p.Asn285Ser)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003583155]\|not provided [RCV004716435]\|not specified [RCV000424979]	benign	3	49101377	49101377	Human	6	name
12837332	CV367282	single nucleotide variant	NM_005051.3(QARS1):c.854A>G (p.Asn285Ser)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003583155]\|not provided [RCV004716435]\|not specified [RCV000424979]	benign	3	49101377	49101378	Human	6	name
598252437	CV3898299	single nucleotide variant	NM_005051.3(QARS1):c.536C>T (p.Pro179Leu)	Inborn genetic diseases [RCV005259424]	uncertain significance	3	49102453	49102453	Human	1	name
12883586	CV393652	single nucleotide variant	NM_005051.3(QARS1):c.316G>A (p.Asp106Asn)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV000461879]\|See cases [RCV004584386]\|not provided [RCV000498066]	uncertain significance	3	49103922	49103922	Human	1	name
12884168	CV393847	single nucleotide variant	NM_005051.3(QARS1):c.601C>T (p.Arg201Trp)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV000462966]\|Inborn genetic diseases [RCV004022720]\|not provided [RCV001584158]	uncertain significance	3	49102235	49102235	Human	2	name
12882461	CV394044	single nucleotide variant	NM_005051.3(QARS1):c.395G>C (p.Arg132Thr)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001501292]\|Inborn genetic diseases [RCV003168904]\|not provided [RCV000459703]	likely benign\|conflicting interpretations of pathogenicity	3	49103687	49103687	Human	2	name
617150371	CV4019040	single nucleotide variant	NM_005051.3(QARS1):c.946A>C (p.Thr316Pro)	not provided [RCV005423448]	uncertain significance	3	49100605	49100605	Human		name
12893326	CV406333	deletion	NM_005051.3(QARS1):c.1451del (p.Tyr484fs)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002525873]\|not provided [RCV000478623]	pathogenic\|likely pathogenic	3	49099585	49099585	Human	1	name
13483629	CV443488	single nucleotide variant	NM_005051.3(QARS1):c.884A>C (p.Asn295Thr)	not provided [RCV000522110]	uncertain significance	3	49100667	49100667	Human		name
13488459	CV443489	single nucleotide variant	NM_005051.3(QARS1):c.602G>A (p.Arg201Gln)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001315616]\|Inborn genetic diseases [RCV002528285]\|not provided [RCV000523568]	uncertain significance	3	49102234	49102234	Human	2	name
13481965	CV443490	single nucleotide variant	NM_005051.3(QARS1):c.557A>G (p.Glu186Gly)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002528290]\|not provided [RCV000521657]	uncertain significance	3	49102432	49102432	Human	1	name
13476242	CV443491	single nucleotide variant	NM_005051.3(QARS1):c.487A>G (p.Lys163Glu)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001339210]\|not provided [RCV000520099]	likely pathogenic\|uncertain significance	3	49103374	49103374	Human	1	name
13491040	CV452773	single nucleotide variant	NM_005051.3(QARS1):c.858C>A (p.Phe286Leu)	Inborn genetic diseases [RCV004669044]\|not provided [RCV001508144]	uncertain significance	3	49101373	49101373	Human	1	name
13480413	CV452834	single nucleotide variant	NM_005051.3(QARS1):c.902G>A (p.Arg301His)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003746542]	uncertain significance	3	49100649	49100649	Human	1	name
13496005	CV453037	single nucleotide variant	NM_005051.3(QARS1):c.673C>T (p.Arg225Trp)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001521368]\|not provided [RCV000537546]	benign	3	49101858	49101858	Human	1	name
13626678	CV519390	deletion	NM_005051.3(QARS1):c.1612del (p.Arg538fs)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005091877]	pathogenic	3	49099346	49099346	Human	1	name
13626672	CV519403	single nucleotide variant	NM_005051.3(QARS1):c.781G>C (p.Gly261Arg)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV004799229]	uncertain significance	3	49101628	49101628	Human	1	name
13626670	CV519611	single nucleotide variant	NM_005051.3(QARS1):c.643G>T (p.Asp215Tyr)	not provided [RCV001861667]	uncertain significance	3	49101888	49101888	Human		name
13706310	CV537424	single nucleotide variant	NM_005051.3(QARS1):c.722C>T (p.Pro241Leu)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002534305]\|not provided [RCV000658960]	uncertain significance	3	49101687	49101687	Human	1	name
13818381	CV559560	single nucleotide variant	NM_005051.3(QARS1):c.769C>A (p.Leu257Met)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV000707670]\|not provided [RCV001868316]	uncertain significance	3	49101640	49101640	Human	1	name
13810872	CV559562	single nucleotide variant	NM_005051.3(QARS1):c.610G>A (p.Ala204Thr)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV000688380]\|Inborn genetic diseases [RCV002544812]	uncertain significance	3	49102226	49102226	Human	2	name
13806312	CV561646	single nucleotide variant	NM_005051.3(QARS1):c.901C>T (p.Arg301Cys)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV000686178]\|Inborn genetic diseases [RCV004026226]\|not provided [RCV001797125]	uncertain significance	3	49100650	49100650	Human	2	name
13808804	CV561648	single nucleotide variant	NM_005051.3(QARS1):c.401G>A (p.Arg134Gln)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005092002]	uncertain significance	3	49103681	49103681	Human	1	name
13807538	CV563048	single nucleotide variant	NM_005051.3(QARS1):c.668A>G (p.Gln223Arg)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV000701185]	uncertain significance	3	49101863	49101863	Human	1	name
26906021	CV828285	single nucleotide variant	NM_005051.3(QARS1):c.793C>A (p.Arg265Ser)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001060691]	uncertain significance	3	49101438	49101438	Human	1	name
26900628	CV828286	single nucleotide variant	NM_005051.3(QARS1):c.665A>C (p.Glu222Ala)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001040122]	uncertain significance	3	49101866	49101866	Human	1	name
26900015	CV828287	single nucleotide variant	NM_005051.3(QARS1):c.623T>C (p.Val208Ala)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001038206]	uncertain significance	3	49102213	49102213	Human	1	name
26904859	CV828288	single nucleotide variant	NM_005051.3(QARS1):c.418G>C (p.Glu140Gln)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001056062]\|Inborn genetic diseases [RCV004960382]	uncertain significance	3	49103664	49103664	Human	2	name
26904213	CV828289	single nucleotide variant	NM_005051.3(QARS1):c.400C>T (p.Arg134Trp)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001052794]\|Inborn genetic diseases [RCV004031658]\|not provided [RCV002462290]	uncertain significance	3	49103682	49103682	Human	2	name
26904688	CV828290	single nucleotide variant	NM_005051.3(QARS1):c.337G>A (p.Val113Met)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001055282]\|Inborn genetic diseases [RCV004031750]\|not provided [RCV001508145]	uncertain significance	3	49103901	49103901	Human	2	name
38491341	CV923250	single nucleotide variant	NM_005051.3(QARS1):c.699G>T (p.Lys233Asn)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001222775]\|Inborn genetic diseases [RCV005262302]	uncertain significance	3	49101832	49101832	Human	2	name
38484255	CV931999	single nucleotide variant	NM_005051.3(QARS1):c.818A>G (p.Asn273Ser)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001207975]\|Inborn genetic diseases [RCV004960538]	uncertain significance	3	49101413	49101413	Human	2	name
38475846	CV943603	single nucleotide variant	NM_005051.3(QARS1):c.608C>T (p.Thr203Met)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001232806]	uncertain significance	3	49102228	49102228	Human	1	name
38474827	CV943604	single nucleotide variant	NM_005051.3(QARS1):c.460C>T (p.Arg154Trp)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001232355]	uncertain significance	3	49103401	49103401	Human	1	name
38470432	CV943605	duplication	NM_005051.3(QARS1):c.425dup (p.Tyr142Ter)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001230976]	pathogenic	3	49103656	49103657	Human	1	name
38491275	CV953518	single nucleotide variant	NM_005051.3(QARS1):c.947C>T (p.Thr316Met)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001239357]	uncertain significance	3	49100604	49100604	Human	1	name
38456348	CV953519	single nucleotide variant	NM_005051.3(QARS1):c.835G>A (p.Gly279Arg)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001245752]	uncertain significance	3	49101396	49101396	Human	1	name
38497410	CV953520	single nucleotide variant	NM_005051.3(QARS1):c.697A>C (p.Lys233Gln)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001243154]\|not provided [RCV001546574]	uncertain significance	3	49101834	49101834	Human	1	name
38468132	CV953521	single nucleotide variant	NM_005051.3(QARS1):c.461G>A (p.Arg154Gln)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001247979]\|Inborn genetic diseases [RCV003246816]\|not provided [RCV001557667]	uncertain significance	3	49103400	49103400	Human	2	name
40887963	CV973019	single nucleotide variant	NM_005051.3(QARS1):c.477G>A (p.Trp159Ter)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001265598]	pathogenic\|likely pathogenic	3	49103384	49103384	Human	1	name
41406962	CV982523	single nucleotide variant	NM_005051.3(QARS1):c.674G>A (p.Arg225Gln)	not provided [RCV001289160]	uncertain significance	3	49101857	49101857	Human		name
126734604	CV989647	single nucleotide variant	NM_005051.3(QARS1):c.937A>C (p.Lys313Gln)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001304464]	uncertain significance	3	49100614	49100614	Human	1	name
126757700	CV989648	single nucleotide variant	NM_005051.3(QARS1):c.794G>A (p.Arg265His)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001298965]	conflicting interpretations of pathogenicity\|uncertain significance	3	49101437	49101437	Human	1	name
126738385	CV989649	single nucleotide variant	NM_005051.3(QARS1):c.676G>C (p.Gly226Arg)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001295474]	uncertain significance	3	49101855	49101855	Human	1	name
126745385	CV1004823	single nucleotide variant	NM_005051.3(QARS1):c.2209C>A (p.Pro737Thr)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001325886]	uncertain significance	3	49098060	49098060	Human	1	name
126767912	CV1004824	single nucleotide variant	NM_005051.3(QARS1):c.2110C>G (p.Pro704Ala)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001321053]	uncertain significance	3	49098233	49098233	Human	1	name
126728447	CV1004825	single nucleotide variant	NM_005051.3(QARS1):c.1726C>T (p.Arg576Trp)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001312517]	uncertain significance	3	49099142	49099142	Human	1	name
126764211	CV1004826	single nucleotide variant	NM_005051.3(QARS1):c.1507G>A (p.Val503Ile)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001319550]	uncertain significance	3	49099529	49099529	Human	1	name
126764329	CV1004827	single nucleotide variant	NM_005051.3(QARS1):c.1457G>A (p.Arg486His)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001319604]	uncertain significance	3	49099579	49099579	Human	1	name
126768924	CV1025348	single nucleotide variant	NM_005051.3(QARS1):c.2149C>G (p.Leu717Val)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001343634]	uncertain significance	3	49098194	49098194	Human	1	name
126773932	CV1025349	single nucleotide variant	NM_005051.3(QARS1):c.1958G>T (p.Gly653Val)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001346642]	uncertain significance	3	49098479	49098479	Human	1	name
126762640	CV1025350	single nucleotide variant	NM_005051.3(QARS1):c.1855T>C (p.Phe619Leu)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001341027]	uncertain significance	3	49098893	49098893	Human	1	name
126772074	CV1025351	single nucleotide variant	NM_005051.3(QARS1):c.1486A>G (p.Lys496Glu)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001345405]	uncertain significance	3	49099550	49099550	Human	1	name
126774609	CV1025352	single nucleotide variant	NM_005051.3(QARS1):c.1417G>C (p.Ala473Pro)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001347419]	uncertain significance	3	49099619	49099619	Human	1	name
126774132	CV1025353	single nucleotide variant	NM_005051.3(QARS1):c.1390C>T (p.Arg464Cys)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001346873]	uncertain significance	3	49099646	49099646	Human	1	name
126750261	CV1025354	single nucleotide variant	NM_005051.3(QARS1):c.1279C>T (p.Arg427Cys)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001338009]\|not provided [RCV005054362]	uncertain significance	3	49099977	49099977	Human	1	name
126774798	CV1025355	single nucleotide variant	NM_005051.3(QARS1):c.1139T>G (p.Met380Arg)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001347640]	uncertain significance	3	49100215	49100215	Human	1	name
126923502	CV1042294	single nucleotide variant	NM_005051.3(QARS1):c.2291G>A (p.Arg764Gln)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001365918]	uncertain significance	3	49096066	49096066	Human	1	name
126918517	CV1042295	single nucleotide variant	NM_005051.3(QARS1):c.2249C>T (p.Ser750Phe)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001372701]	uncertain significance	3	49098020	49098020	Human	1	name
126924040	CV1042296	single nucleotide variant	NM_005051.3(QARS1):c.1925G>C (p.Gly642Ala)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001366560]	uncertain significance	3	49098631	49098631	Human	1	name
126921247	CV1042297	single nucleotide variant	NM_005051.3(QARS1):c.1805G>C (p.Gly602Ala)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001374280]\|not specified [RCV005236842]	uncertain significance	3	49098943	49098943	Human	1	name
126918703	CV1042298	single nucleotide variant	NM_005051.3(QARS1):c.1456C>T (p.Arg486Cys)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001372814]	uncertain significance	3	49099580	49099580	Human	1	name
126916695	CV1042299	single nucleotide variant	NM_005051.3(QARS1):c.1307C>A (p.Pro436His)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001371658]	uncertain significance	3	49099842	49099842	Human	1	name
126918363	CV1042300	single nucleotide variant	NM_005051.3(QARS1):c.1181A>G (p.Lys394Arg)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001361681]	uncertain significance	3	49100075	49100075	Human	1	name
126918397	CV1042302	single nucleotide variant	NM_005051.3(QARS1):c.1013A>G (p.Tyr338Cys)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001361697]\|Inborn genetic diseases [RCV003365366]	uncertain significance	3	49100422	49100422	Human	2	name
127261770	CV1059842	single nucleotide variant	NM_005051.3(QARS1):c.2080C>T (p.Arg694Ter)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001380568]	pathogenic	3	49098357	49098357	Human	1	name
127264394	CV1059844	duplication	NM_005051.3(QARS1):c.1485dup (p.Lys496Ter)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001381217]	pathogenic	3	49099550	49099551	Human	1	name
127289430	CV1152107	single nucleotide variant	NM_005051.3(QARS1):c.1778C>T (p.Pro593Leu)	not provided [RCV001509220]	uncertain significance	3	49098970	49098970	Human		name
150461335	CV1206447	single nucleotide variant	NM_005051.3(QARS1):c.1832T>C (p.Ile611Thr)	Inborn genetic diseases [RCV004952996]\|not provided [RCV001586848]	uncertain significance	3	49098916	49098916	Human	1	name
150529541	CV1292844	single nucleotide variant	NM_005051.3(QARS1):c.1292A>C (p.Lys431Thr)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002538737]\|not provided [RCV001756237]	uncertain significance	3	49099964	49099964	Human	1	name
150548978	CV1294884	single nucleotide variant	NM_005051.3(QARS1):c.1199C>T (p.Ala400Val)	not provided [RCV001764845]	uncertain significance	3	49100057	49100057	Human		name
150552972	CV1295652	single nucleotide variant	NM_005051.3(QARS1):c.1315G>A (p.Asp439Asn)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002543991]\|not provided [RCV001768584]	uncertain significance	3	49099834	49099834	Human	1	name
150554053	CV1296431	single nucleotide variant	NM_005051.3(QARS1):c.1189G>C (p.Glu397Gln)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002540277]\|not provided [RCV001770668]	uncertain significance	3	49100067	49100067	Human	1	name
150542621	CV1302654	single nucleotide variant	NM_005051.3(QARS1):c.1756A>C (p.Lys586Gln)	not provided [RCV001761344]	uncertain significance	3	49099112	49099112	Human		name
150542790	CV1302782	single nucleotide variant	NM_005051.3(QARS1):c.2234G>A (p.Arg745His)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002540459]\|Inborn genetic diseases [RCV002540458]\|not provided [RCV001761409]	uncertain significance	3	49098035	49098035	Human	2	name
150554692	CV1304414	single nucleotide variant	NM_005051.3(QARS1):c.1255C>T (p.Arg419Ter)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002540541]\|not provided [RCV001771384]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	49100001	49100001	Human	1	name
151236125	CV1319556	single nucleotide variant	NM_005051.3(QARS1):c.1231G>A (p.Gly411Ser)	not provided [RCV001797501]	uncertain significance	3	49100025	49100025	Human		name
8658688	CV132624	single nucleotide variant	NM_005051.3(QARS1):c.1207C>T (p.Arg403Trp)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV000114973]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	49100049	49100049	Human	1	name
8658690	CV132626	single nucleotide variant	NM_005051.3(QARS1):c.1543C>T (p.Arg515Trp)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV000114975]\|Intellectual disability, autosomal dominant 43 [RCV004764850]\|not provided [RCV000437593]	pathogenic\|likely pathogenic	3	49099415	49099415	Human	2	name
151662255	CV1332982	single nucleotide variant	NM_005051.3(QARS1):c.1270C>G (p.Pro424Ala)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001837214]	uncertain significance	3	49099986	49099986	Human	1	name
151864179	CV1336791	single nucleotide variant	NM_005051.3(QARS1):c.1385C>T (p.Ala462Val)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002543440]\|not provided [RCV002034833]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	49099764	49099764	Human	1	name
151761907	CV1340837	single nucleotide variant	NM_005051.3(QARS1):c.1758G>C (p.Lys586Asn)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002561547]	uncertain significance	3	49099110	49099110	Human	1	name
151735487	CV1354722	single nucleotide variant	NM_005051.3(QARS1):c.1052G>A (p.Arg351His)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002552872]	uncertain significance	3	49100383	49100383	Human	1	name
151715493	CV1355187	single nucleotide variant	NM_005051.3(QARS1):c.1687G>A (p.Asp563Asn)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002562778]	uncertain significance	3	49099181	49099181	Human	1	name
151749787	CV1357251	single nucleotide variant	NM_005051.3(QARS1):c.1031C>T (p.Ala344Val)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002547966]	uncertain significance	3	49100404	49100404	Human	1	name
151810607	CV1359294	single nucleotide variant	NM_005051.3(QARS1):c.1559C>G (p.Thr520Arg)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002625391]	uncertain significance	3	49099399	49099399	Human	1	name
151747917	CV1362417	single nucleotide variant	NM_005051.3(QARS1):c.1694C>T (p.Ala565Val)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002569284]	uncertain significance	3	49099174	49099174	Human	1	name
151844281	CV1375963	single nucleotide variant	NM_005051.3(QARS1):c.1156C>T (p.Leu386Phe)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002571279]	uncertain significance	3	49100198	49100198	Human	1	name
151806900	CV1382226	single nucleotide variant	NM_005051.3(QARS1):c.1872G>T (p.Glu624Asp)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002642022]	uncertain significance	3	49098684	49098684	Human	1	name
151768677	CV1383464	single nucleotide variant	NM_005051.3(QARS1):c.1667G>A (p.Cys556Tyr)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002548017]	uncertain significance	3	49099201	49099201	Human	1	name
151861086	CV1386155	single nucleotide variant	NM_005051.3(QARS1):c.1847G>A (p.Arg616Lys)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002550315]	uncertain significance	3	49098901	49098901	Human	1	name
151764620	CV1387347	single nucleotide variant	NM_005051.3(QARS1):c.2223C>G (p.Phe741Leu)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002563466]	uncertain significance	3	49098046	49098046	Human	1	name
151736485	CV1387807	single nucleotide variant	NM_005051.3(QARS1):c.1229A>G (p.Asp410Gly)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002573386]	uncertain significance	3	49100027	49100027	Human	1	name
151714540	CV1388545	single nucleotide variant	NM_005051.3(QARS1):c.1946A>G (p.His649Arg)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002571311]	uncertain significance	3	49098610	49098610	Human	1	name
151890184	CV1394744	single nucleotide variant	NM_005051.3(QARS1):c.1133G>A (p.Arg378His)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002552222]	uncertain significance	3	49100221	49100221	Human	1	name
151733501	CV1397899	single nucleotide variant	NM_005051.3(QARS1):c.1435C>T (p.Pro479Ser)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002571337]	uncertain significance	3	49099601	49099601	Human	1	name
151889594	CV1398880	single nucleotide variant	NM_005051.3(QARS1):c.1345G>T (p.Glu449Ter)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002550363]	pathogenic	3	49099804	49099804	Human	1	name
151771275	CV1404404	single nucleotide variant	NM_005051.3(QARS1):c.1746T>A (p.Phe582Leu)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002675449]	uncertain significance	3	49099122	49099122	Human	1	name
151744338	CV1408734	single nucleotide variant	NM_005051.3(QARS1):c.1691C>G (p.Thr564Arg)	not provided [RCV002042562]	uncertain significance	3	49099177	49099177	Human		name
151733773	CV1409359	single nucleotide variant	NM_005051.3(QARS1):c.1672C>T (p.Arg558Cys)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002555203]\|Inborn genetic diseases [RCV005262586]\|not provided [RCV004728906]	uncertain significance	3	49099196	49099196	Human	2	name
151737491	CV1410813	single nucleotide variant	NM_005051.3(QARS1):c.1787C>T (p.Pro596Leu)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002573396]	uncertain significance	3	49098961	49098961	Human	1	name
151730181	CV1412965	single nucleotide variant	NM_005051.3(QARS1):c.1826C>T (p.Ala609Val)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002563567]	uncertain significance	3	49098922	49098922	Human	1	name
151809357	CV1417221	single nucleotide variant	NM_005051.3(QARS1):c.1073G>T (p.Cys358Phe)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002657719]	uncertain significance	3	49100281	49100281	Human	1	name
151842560	CV1418268	single nucleotide variant	NM_005051.3(QARS1):c.2104G>A (p.Glu702Lys)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002554232]	uncertain significance	3	49098239	49098239	Human	1	name
151862609	CV1420269	single nucleotide variant	NM_005051.3(QARS1):c.2320A>G (p.Lys774Glu)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002592584]	uncertain significance	3	49096037	49096037	Human	1	name
151880616	CV1421484	single nucleotide variant	NM_005051.3(QARS1):c.2081G>A (p.Arg694Gln)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002552318]	uncertain significance	3	49098356	49098356	Human	1	name
151834148	CV1428941	single nucleotide variant	NM_005051.3(QARS1):c.1313A>G (p.Tyr438Cys)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002579537]	uncertain significance	3	49099836	49099836	Human	1	name
151864001	CV1431486	single nucleotide variant	NM_005051.3(QARS1):c.1876G>C (p.Gly626Arg)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002560488]	uncertain significance	3	49098680	49098680	Human	1	name
151804656	CV1432401	single nucleotide variant	NM_005051.3(QARS1):c.1274A>T (p.His425Leu)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002579530]	uncertain significance	3	49099982	49099982	Human	1	name
151761385	CV1433666	single nucleotide variant	NM_005051.3(QARS1):c.2265C>G (p.Ser755Arg)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002548930]	uncertain significance	3	49098004	49098004	Human	1	name
151869989	CV1436589	single nucleotide variant	NM_005051.3(QARS1):c.1654C>G (p.Leu552Val)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002579510]	uncertain significance	3	49099214	49099214	Human	1	name
151759779	CV1443842	single nucleotide variant	NM_005051.3(QARS1):c.1651C>T (p.His551Tyr)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002551151]	uncertain significance	3	49099217	49099217	Human	1	name
151772343	CV1444303	single nucleotide variant	NM_005051.3(QARS1):c.1085G>T (p.Gly362Val)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002560537]\|not provided [RCV001929647]	uncertain significance	3	49100269	49100269	Human	1	name
151760546	CV1448578	single nucleotide variant	NM_005051.3(QARS1):c.1739C>T (p.Thr580Ile)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002562172]	uncertain significance	3	49099129	49099129	Human	1	name
151832758	CV1456064	single nucleotide variant	NM_005051.3(QARS1):c.1067A>T (p.Tyr356Phe)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002545648]	uncertain significance	3	49100287	49100287	Human	1	name
151791954	CV1470985	single nucleotide variant	NM_005051.3(QARS1):c.1172G>A (p.Arg391His)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002560672]	uncertain significance	3	49100084	49100084	Human	1	name
151836289	CV1472961	single nucleotide variant	NM_005051.3(QARS1):c.1270C>T (p.Pro424Ser)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002545670]	uncertain significance	3	49099986	49099986	Human	1	name
151713038	CV1479767	single nucleotide variant	NM_005051.3(QARS1):c.1967G>C (p.Gly656Ala)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002552214]	uncertain significance	3	49098470	49098470	Human	1	name
151871821	CV1480564	single nucleotide variant	NM_005051.3(QARS1):c.1028A>G (p.Tyr343Cys)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002555405]	uncertain significance	3	49100407	49100407	Human	1	name
151771867	CV1481935	single nucleotide variant	NM_005051.3(QARS1):c.1094T>C (p.Leu365Pro)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002579687]	uncertain significance	3	49100260	49100260	Human	1	name
151793904	CV1482662	single nucleotide variant	NM_005051.3(QARS1):c.2270A>G (p.Gln757Arg)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002545715]	uncertain significance	3	49097999	49097999	Human	1	name
151809199	CV1483630	single nucleotide variant	NM_005051.3(QARS1):c.2122C>G (p.Pro708Ala)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002555693]	uncertain significance	3	49098221	49098221	Human	1	name
151876256	CV1484250	single nucleotide variant	NM_005051.3(QARS1):c.1757A>G (p.Lys586Arg)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002562045]	uncertain significance	3	49099111	49099111	Human	1	name
151767692	CV1486101	single nucleotide variant	NM_005051.3(QARS1):c.2226G>T (p.Gln742His)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002545439]	uncertain significance	3	49098043	49098043	Human	1	name
151728451	CV1486699	single nucleotide variant	NM_005051.3(QARS1):c.1423G>C (p.Asp475His)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002552293]	uncertain significance	3	49099613	49099613	Human	1	name
151787452	CV1488696	single nucleotide variant	NM_005051.3(QARS1):c.1571G>T (p.Arg524Leu)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002642073]	uncertain significance	3	49099387	49099387	Human	1	name
151819439	CV1490451	single nucleotide variant	NM_005051.3(QARS1):c.1930G>T (p.Val644Phe)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002562920]\|Inborn genetic diseases [RCV002562921]	uncertain significance	3	49098626	49098626	Human	2	name
151847753	CV1502380	single nucleotide variant	NM_005051.3(QARS1):c.2233C>T (p.Arg745Cys)	not provided [RCV001882185]	uncertain significance	3	49098036	49098036	Human		name
151728769	CV1515759	single nucleotide variant	NM_005051.3(QARS1):c.1223T>C (p.Met408Thr)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002625337]	uncertain significance	3	49100033	49100033	Human	1	name
151729468	CV1515845	single nucleotide variant	NM_005051.3(QARS1):c.2083C>G (p.Leu695Val)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002592676]\|Inborn genetic diseases [RCV003170457]	uncertain significance	3	49098354	49098354	Human	2	name
152980895	CV1676207	single nucleotide variant	NM_005051.3(QARS1):c.1420C>G (p.Leu474Val)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002245283]	uncertain significance	3	49099616	49099616	Human	1	name
155715588	CV1780406	single nucleotide variant	NM_005051.3(QARS1):c.1664C>G (p.Ala555Gly)	not provided [RCV002306010]	uncertain significance	3	49099204	49099204	Human		name
156167778	CV1866959	single nucleotide variant	NM_005051.3(QARS1):c.1746T>G (p.Phe582Leu)	not provided [RCV002508511]	uncertain significance	3	49099122	49099122	Human		name
156313526	CV1874648	single nucleotide variant	NM_005051.3(QARS1):c.1673G>A (p.Arg558His)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003062600]\|not provided [RCV004790330]	uncertain significance	3	49099195	49099195	Human	1	name
156385442	CV1891722	single nucleotide variant	NM_005051.3(QARS1):c.1276C>A (p.His426Asn)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003067518]	uncertain significance	3	49099980	49099980	Human	1	name
156409112	CV1922187	single nucleotide variant	NM_005051.3(QARS1):c.1648C>T (p.Pro550Ser)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002607458]	uncertain significance	3	49099220	49099220	Human	1	name
156442721	CV1948829	single nucleotide variant	NM_005051.3(QARS1):c.2277G>T (p.Lys759Asn)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003113072]	uncertain significance	3	49097992	49097992	Human	1	name
156395974	CV1958949	single nucleotide variant	NM_005051.3(QARS1):c.1168A>G (p.Met390Val)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002584363]	uncertain significance	3	49100088	49100088	Human	1	name
156356280	CV1962429	single nucleotide variant	NM_005051.3(QARS1):c.1288G>A (p.Asp430Asn)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002581412]\|Inborn genetic diseases [RCV004064564]	uncertain significance	3	49099968	49099968	Human	2	name
156305360	CV1966274	single nucleotide variant	NM_005051.3(QARS1):c.1162G>C (p.Glu388Gln)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002578421]	uncertain significance	3	49100192	49100192	Human	1	name
156079193	CV2011924	single nucleotide variant	NM_005051.3(QARS1):c.1930G>A (p.Val644Ile)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002705933]	uncertain significance	3	49098626	49098626	Human	1	name
156083557	CV2012103	single nucleotide variant	NM_005051.3(QARS1):c.1021C>T (p.Gln341Ter)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002706068]	pathogenic	3	49100414	49100414	Human	1	name
156106112	CV2038512	single nucleotide variant	NM_005051.3(QARS1):c.1886G>T (p.Arg629Leu)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002761498]	uncertain significance	3	49098670	49098670	Human	1	name
156151545	CV2049113	single nucleotide variant	NM_005051.3(QARS1):c.2142C>A (p.Asp714Glu)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002801307]	uncertain significance	3	49098201	49098201	Human	1	name
156280536	CV2049941	single nucleotide variant	NM_005051.3(QARS1):c.2114C>A (p.Thr705Asn)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002806975]	uncertain significance	3	49098229	49098229	Human	1	name
156102780	CV2051190	single nucleotide variant	NM_005051.3(QARS1):c.1613G>T (p.Arg538Leu)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002824618]	uncertain significance	3	49099345	49099345	Human	1	name
155986583	CV2056119	single nucleotide variant	NM_005051.3(QARS1):c.1954A>G (p.Lys652Glu)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002819008]	uncertain significance	3	49098602	49098602	Human	1	name
156337893	CV2057867	single nucleotide variant	NM_005051.3(QARS1):c.2167G>C (p.Val723Leu)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002811038]	uncertain significance	3	49098102	49098102	Human	1	name
155936049	CV2058015	single nucleotide variant	NM_005051.3(QARS1):c.1160T>C (p.Phe387Ser)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002815378]	uncertain significance	3	49100194	49100194	Human	1	name
156048115	CV2059936	single nucleotide variant	NM_005051.3(QARS1):c.1049T>G (p.Ile350Ser)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002796674]	uncertain significance	3	49100386	49100386	Human	1	name
156182748	CV2068568	single nucleotide variant	NM_005051.3(QARS1):c.1582C>G (p.Pro528Ala)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002851886]	uncertain significance	3	49099376	49099376	Human	1	name
156304975	CV2079731	single nucleotide variant	NM_005051.3(QARS1):c.1507G>T (p.Val503Leu)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002857362]	uncertain significance	3	49099529	49099529	Human	1	name
156252695	CV2098114	single nucleotide variant	NM_005051.3(QARS1):c.1114C>T (p.Pro372Ser)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002895317]	uncertain significance	3	49100240	49100240	Human	1	name
156311381	CV2107504	single nucleotide variant	NM_005051.3(QARS1):c.1747C>A (p.Pro583Thr)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002937185]	uncertain significance	3	49099121	49099121	Human	1	name
156142166	CV2110000	single nucleotide variant	NM_005051.3(QARS1):c.1571G>A (p.Arg524Gln)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002928595]	uncertain significance	3	49099387	49099387	Human	1	name
156024835	CV2112334	single nucleotide variant	NM_005051.3(QARS1):c.1735A>G (p.Ile579Val)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002909786]\|Inborn genetic diseases [RCV003170591]	uncertain significance	3	49099133	49099133	Human	2	name
156117990	CV2115807	single nucleotide variant	NM_005051.3(QARS1):c.1099G>A (p.Gly367Ser)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002927697]	uncertain significance	3	49100255	49100255	Human	1	name
156308912	CV2150078	single nucleotide variant	NM_005051.3(QARS1):c.1375G>A (p.Glu459Lys)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003028465]	uncertain significance	3	49099774	49099774	Human	1	name
155984618	CV2163352	single nucleotide variant	NM_005051.3(QARS1):c.1770C>G (p.Ile590Met)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003034038]	uncertain significance	3	49098978	49098978	Human	1	name
156131232	CV2169155	single nucleotide variant	NM_005051.3(QARS1):c.2220G>C (p.Lys740Asn)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003022185]	uncertain significance	3	49098049	49098049	Human	1	name
156199481	CV2169686	single nucleotide variant	NM_005051.3(QARS1):c.2312A>C (p.Asp771Ala)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003041920]	uncertain significance	3	49096045	49096045	Human	1	name
156226350	CV2176449	single nucleotide variant	NM_005051.3(QARS1):c.2116G>A (p.Glu706Lys)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003059140]	uncertain significance	3	49098227	49098227	Human	1	name
156206973	CV2179388	single nucleotide variant	NM_005051.3(QARS1):c.2092C>T (p.His698Tyr)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003024661]	uncertain significance	3	49098251	49098251	Human	1	name
156333476	CV2186605	single nucleotide variant	NM_005051.3(QARS1):c.1274A>G (p.His425Arg)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003063830]	uncertain significance	3	49099982	49099982	Human	1	name
156262144	CV2191086	single nucleotide variant	NM_005051.3(QARS1):c.2087T>G (p.Phe696Cys)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003044155]	uncertain significance	3	49098256	49098256	Human	1	name
156069735	CV2292818	single nucleotide variant	NM_005051.3(QARS1):c.1828C>T (p.Pro610Ser)	Inborn genetic diseases [RCV002886815]	likely benign	3	49098920	49098920	Human	1	name
156252298	CV2390022	single nucleotide variant	NM_005051.3(QARS1):c.1407G>C (p.Trp469Cys)	Inborn genetic diseases [RCV002768943]	uncertain significance	3	49099629	49099629	Human	1	name
11346683	CV239239	single nucleotide variant	NM_005051.3(QARS1):c.1453G>C (p.Gly485Arg)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV000229402]	uncertain significance	3	49099583	49099583	Human	1	name
243051042	CV2413660	single nucleotide variant	NM_005051.3(QARS1):c.1090G>C (p.Glu364Gln)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003130377]	uncertain significance	3	49100264	49100264	Human	1	name
243059791	CV2413661	single nucleotide variant	NM_005051.3(QARS1):c.1591G>A (p.Ala531Thr)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003135193]	uncertain significance	3	49099367	49099367	Human	1	name
401724059	CV2672217	single nucleotide variant	NM_005051.3(QARS1):c.1468C>T (p.His490Tyr)	Inborn genetic diseases [RCV003377943]\|not provided [RCV003239118]	uncertain significance	3	49099568	49099568	Human	1	name
401740385	CV2684345	single nucleotide variant	NM_005051.3(QARS1):c.2057T>C (p.Met686Thr)	Inborn genetic diseases [RCV003240650]	likely benign	3	49098380	49098380	Human	1	name
401881262	CV2784580	single nucleotide variant	NM_005051.3(QARS1):c.1463A>T (p.Asn488Ile)	Inborn genetic diseases [RCV003364904]	uncertain significance	3	49099573	49099573	Human	1	name
405248223	CV2946771	single nucleotide variant	NM_005051.3(QARS1):c.1401C>A (p.Tyr467Ter)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003746711]	pathogenic	3	49099635	49099635	Human	1	name
405248975	CV2971877	single nucleotide variant	NM_005051.3(QARS1):c.1265A>G (p.Tyr422Cys)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003746946]	uncertain significance	3	49099991	49099991	Human	1	name
405247389	CV3042478	single nucleotide variant	NM_005051.3(QARS1):c.1256G>A (p.Arg419Gln)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003746352]	uncertain significance	3	49100000	49100000	Human	1	name
405250658	CV3079977	single nucleotide variant	NM_005051.3(QARS1):c.1669G>A (p.Val557Met)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003747620]	uncertain significance	3	49099199	49099199	Human	1	name
405668253	CV3308242	single nucleotide variant	NM_005051.3(QARS1):c.1498C>G (p.Leu500Val)	Inborn genetic diseases [RCV004440714]	uncertain significance	3	49099538	49099538	Human	1	name
405668258	CV3308243	single nucleotide variant	NM_005051.3(QARS1):c.1945C>T (p.His649Tyr)	Inborn genetic diseases [RCV004440715]	uncertain significance	3	49098611	49098611	Human	1	name
407424817	CV3410958	single nucleotide variant	NM_005051.3(QARS1):c.2071C>G (p.Leu691Val)	not provided [RCV004588648]	uncertain significance	3	49098366	49098366	Human		name
407473991	CV3464962	single nucleotide variant	NM_005051.3(QARS1):c.1012T>C (p.Tyr338His)	Inborn genetic diseases [RCV004662886]	uncertain significance	3	49100423	49100423	Human	1	name
408373439	CV3502269	single nucleotide variant	NM_005051.3(QARS1):c.1012T>A (p.Tyr338Asn)	not provided [RCV004725856]	uncertain significance	3	49100423	49100423	Human		name
408388742	CV3520874	single nucleotide variant	NM_005051.3(QARS1):c.2137A>C (p.Ser713Arg)	not provided [RCV004761707]	uncertain significance	3	49098206	49098206	Human		name
408386397	CV3522500	single nucleotide variant	NM_005051.3(QARS1):c.1856T>G (p.Phe619Cys)	not provided [RCV004767860]	uncertain significance	3	49098892	49098892	Human		name
596929900	CV3538643	single nucleotide variant	NM_005051.3(QARS1):c.2164G>T (p.Val722Leu)	not provided [RCV004792112]	uncertain significance	3	49098105	49098105	Human		name
597706859	CV3592615	single nucleotide variant	NM_005051.3(QARS1):c.1663G>T (p.Ala555Ser)	Inborn genetic diseases [RCV004957436]	uncertain significance	3	49099205	49099205	Human	1	name
597706866	CV3592616	single nucleotide variant	NM_005051.3(QARS1):c.2261A>C (p.Asp754Ala)	Inborn genetic diseases [RCV004957437]	uncertain significance	3	49098008	49098008	Human	1	name
12740705	CV359468	single nucleotide variant	NM_005051.3(QARS1):c.1774G>C (p.Val592Leu)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002523942]\|not specified [RCV000412870]	uncertain significance	3	49098974	49098974	Human	1	name
12743289	CV361614	single nucleotide variant	NM_005051.3(QARS1):c.2068C>T (p.Arg690Cys)	not provided [RCV000416268]	likely pathogenic\|uncertain significance	3	49098369	49098369	Human		name
12742960	CV361615	single nucleotide variant	NM_005051.3(QARS1):c.1570C>T (p.Arg524Trp)	not provided [RCV000415807]\|not specified [RCV003488584]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	49099388	49099388	Human		name
12844511	CV367651	single nucleotide variant	NM_005051.3(QARS1):c.1559C>T (p.Thr520Met)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001238962]\|not provided [RCV000438114]	uncertain significance	3	49099399	49099399	Human	1	name
597943878	CV3754879	single nucleotide variant	NM_005051.3(QARS1):c.1786C>T (p.Pro596Ser)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005078068]	uncertain significance	3	49098962	49098962	Human	1	name
597942440	CV3779917	single nucleotide variant	NM_005051.3(QARS1):c.2089C>T (p.Gln697Ter)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005118926]	pathogenic	3	49098254	49098254	Human	1	name
597840566	CV3825339	single nucleotide variant	NM_005051.3(QARS1):c.1283C>T (p.Thr428Ile)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005172022]	uncertain significance	3	49099973	49099973	Human	1	name
597876676	CV3860154	single nucleotide variant	NM_005051.3(QARS1):c.1896G>A (p.Trp632Ter)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005198363]	pathogenic	3	49098660	49098660	Human	1	name
597845896	CV3880528	single nucleotide variant	NM_005051.3(QARS1):c.1288G>T (p.Asp430Tyr)	not provided [RCV005227416]	uncertain significance	3	49099968	49099968	Human		name
598126240	CV3886155	single nucleotide variant	NM_005051.3(QARS1):c.2254G>T (p.Asp752Tyr)	not provided [RCV005241958]	uncertain significance	3	49098015	49098015	Human		name
598234091	CV3893629	single nucleotide variant	NM_005051.3(QARS1):c.2206A>G (p.Lys736Glu)	not provided [RCV005256362]	uncertain significance	3	49098063	49098063	Human		name
598252433	CV3898298	single nucleotide variant	NM_005051.3(QARS1):c.1586C>G (p.Pro529Arg)	Inborn genetic diseases [RCV005259423]	uncertain significance	3	49099372	49099372	Human	1	name
12881431	CV393595	single nucleotide variant	NM_005051.3(QARS1):c.2195T>C (p.Val732Ala)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003746522]	uncertain significance	3	49098074	49098074	Human	1	name
12891990	CV393614	single nucleotide variant	NM_005051.3(QARS1):c.1267A>G (p.Thr423Ala)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV000477590]	uncertain significance	3	49099989	49099989	Human	1	name
12887306	CV393635	single nucleotide variant	NM_005051.3(QARS1):c.2210C>T (p.Pro737Leu)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV000468826]\|Inborn genetic diseases [RCV003352874]\|not provided [RCV003314596]	uncertain significance	3	49098059	49098059	Human	2	name
12883525	CV393638	single nucleotide variant	NM_005051.3(QARS1):c.1478T>A (p.Val493Asp)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003766550]	uncertain significance	3	49099558	49099558	Human	1	name
12892356	CV393642	single nucleotide variant	NM_005051.3(QARS1):c.1160T>G (p.Phe387Cys)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV000466870]\|Inborn genetic diseases [RCV005260129]\|not provided [RCV000487819]	uncertain significance	3	49100194	49100194	Human	2	name
616938061	CV4013878	single nucleotide variant	NM_005051.3(QARS1):c.1574G>A (p.Arg525Gln)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005413370]	uncertain significance	3	49099384	49099384	Human	1	name
616939154	CV4015484	single nucleotide variant	NM_005051.3(QARS1):c.1596C>G (p.Ile532Met)	not provided [RCV005412996]	uncertain significance	3	49099362	49099362	Human		name
12900143	CV406334	single nucleotide variant	NM_005051.3(QARS1):c.1418C>T (p.Ala473Val)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003583163]\|not provided [RCV000481762]	uncertain significance	3	49099618	49099618	Human	1	name
13212002	CV425570	single nucleotide variant	NM_005051.3(QARS1):c.1314C>G (p.Tyr438Ter)	not provided [RCV000498206]	likely pathogenic	3	49099835	49099835	Human		name
13485154	CV440823	single nucleotide variant	NM_005051.3(QARS1):c.1712T>C (p.Val571Ala)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV000697150]\|not provided [RCV001550562]\|not specified [RCV000518657]	uncertain significance	3	49099156	49099156	Human	1	name
13478563	CV443487	single nucleotide variant	NM_005051.3(QARS1):c.1246G>A (p.Val416Ile)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV000655203]\|Inborn genetic diseases [RCV003243166]\|not provided [RCV000520706]	uncertain significance	3	49100010	49100010	Human	2	name
13483427	CV443493	deletion	NM_005051.3(QARS1):c.55_57del (p.Lys19del)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001372292]\|not provided [RCV000522052]	uncertain significance	3	49104677	49104679	Human	1	name
13489259	CV452744	single nucleotide variant	NM_005051.3(QARS1):c.1999C>T (p.Arg667Trp)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV000555248]\|Inborn genetic diseases [RCV004955665]\|not provided [RCV003437289]	uncertain significance	3	49098438	49098438	Human	2	name
13491876	CV452771	single nucleotide variant	NM_005051.3(QARS1):c.1387C>T (p.Arg463Ter)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV004760598]	pathogenic	3	49099762	49099762	Human	1	name
13487508	CV452807	single nucleotide variant	NM_005051.3(QARS1):c.1832T>G (p.Ile611Ser)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV000554317]\|Inborn genetic diseases [RCV002527954]\|not provided [RCV000998075]	uncertain significance	3	49098916	49098916	Human	2	name
13473765	CV453027	single nucleotide variant	NM_005051.3(QARS1):c.1526G>A (p.Arg509Gln)	not provided [RCV001858061]	uncertain significance	3	49099510	49099510	Human		name
13536302	CV500312	single nucleotide variant	NM_005051.3(QARS1):c.1525C>T (p.Arg509Trp)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001510749]\|not provided [RCV000865891]	benign\|likely benign\|conflicting interpretations of pathogenicity	3	49099511	49099511	Human	1	name
13531242	CV511500	single nucleotide variant	NM_005051.3(QARS1):c.1573C>T (p.Arg525Trp)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001303875]\|Inborn genetic diseases [RCV000623160]	uncertain significance	3	49099385	49099385	Human	2	name
13626676	CV519373	single nucleotide variant	NM_005051.3(QARS1):c.2218A>C (p.Lys740Gln)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV000655193]	uncertain significance	3	49098051	49098051	Human	1	name
13626679	CV519378	single nucleotide variant	NM_005051.3(QARS1):c.2069G>A (p.Arg690His)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005208967]\|not provided [RCV001756110]	uncertain significance	3	49098368	49098368	Human	1	name
13626684	CV519384	single nucleotide variant	NM_005051.3(QARS1):c.1886G>A (p.Arg629His)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV005208969]	uncertain significance	3	49098670	49098670	Human	1	name
13626671	CV519385	single nucleotide variant	NM_005051.3(QARS1):c.1972G>C (p.Val658Leu)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV000655188]\|Inborn genetic diseases [RCV002534225]	uncertain significance	3	49098465	49098465	Human	2	name
13626674	CV519386	single nucleotide variant	NM_005051.3(QARS1):c.1195G>A (p.Glu399Lys)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV000655191]\|not provided [RCV001592835]	uncertain significance	3	49100061	49100061	Human	1	name
13626677	CV519400	single nucleotide variant	NM_005051.3(QARS1):c.1544G>A (p.Arg515Gln)	not provided [RCV001861668]	uncertain significance	3	49099414	49099414	Human		name
13626683	CV519565	single nucleotide variant	NM_005051.3(QARS1):c.2261A>G (p.Asp754Gly)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV000655201]\|Inborn genetic diseases [RCV004025951]\|not provided [RCV001584513]	uncertain significance	3	49098008	49098008	Human	2	name
13626675	CV519567	single nucleotide variant	NM_005051.3(QARS1):c.2174C>T (p.Ala725Val)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV000655192]	uncertain significance	3	49098095	49098095	Human	1	name
13626667	CV519570	single nucleotide variant	NM_005051.3(QARS1):c.1388G>A (p.Arg463Gln)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV000655184]	uncertain significance	3	49099761	49099761	Human	1	name
13626669	CV519607	single nucleotide variant	NM_005051.3(QARS1):c.1825G>A (p.Ala609Thr)	not provided [RCV001509219]	uncertain significance	3	49098923	49098923	Human		name
13705409	CV536649	single nucleotide variant	NM_005051.3(QARS1):c.1568G>A (p.Arg523Gln)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001242568]\|not provided [RCV000657936]	uncertain significance	3	49099390	49099390	Human	1	name
13706308	CV537423	single nucleotide variant	NM_005051.3(QARS1):c.1958G>A (p.Gly653Asp)	not provided [RCV000658959]	uncertain significance	3	49098479	49098479	Human		name
13809012	CV559020	single nucleotide variant	NM_005051.3(QARS1):c.1997G>T (p.Arg666Ile)	Inborn genetic diseases [RCV004957992]\|not provided [RCV001861904]	uncertain significance	3	49098440	49098440	Human	1	name
13806919	CV559022	single nucleotide variant	NM_005051.3(QARS1):c.1781A>C (p.Asn594Thr)	Inborn genetic diseases [RCV003344013]\|not provided [RCV001861914]	uncertain significance	3	49098967	49098967	Human	1	name
13808905	CV559024	single nucleotide variant	NM_005051.3(QARS1):c.1738A>G (p.Thr580Ala)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV000701814]	uncertain significance	3	49099130	49099130	Human	1	name
13813733	CV559026	single nucleotide variant	NM_005051.3(QARS1):c.1585C>T (p.Pro529Ser)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV000690365]\|Inborn genetic diseases [RCV002544874]\|not provided [RCV001545016]	uncertain significance	3	49099373	49099373	Human	2	name
13819189	CV559550	single nucleotide variant	NM_005051.3(QARS1):c.2311G>A (p.Asp771Asn)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV000694182]	uncertain significance	3	49096046	49096046	Human	1	name
13807235	CV559552	single nucleotide variant	NM_005051.3(QARS1):c.2215G>T (p.Asp739Tyr)	not provided [RCV001861902]	uncertain significance	3	49098054	49098054	Human		name
13804767	CV559554	single nucleotide variant	NM_005051.3(QARS1):c.1658T>A (p.Leu553Gln)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV000692882]\|not provided [RCV000712885]	uncertain significance	3	49099210	49099210	Human	1	name
13807607	CV559556	single nucleotide variant	NM_005051.3(QARS1):c.1582C>T (p.Pro528Ser)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV000686869]	uncertain significance	3	49099376	49099376	Human	1	name
13809878	CV559558	single nucleotide variant	NM_005051.3(QARS1):c.1163A>G (p.Glu388Gly)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV000687971]	uncertain significance	3	49100191	49100191	Human	1	name
13815457	CV561644	single nucleotide variant	NM_005051.3(QARS1):c.1301T>C (p.Ile434Thr)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV000691612]	uncertain significance	3	49099848	49099848	Human	1	name
13807867	CV563026	single nucleotide variant	NM_005051.3(QARS1):c.2164G>A (p.Val722Met)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV000687001]	uncertain significance	3	49098105	49098105	Human	1	name
13805840	CV563041	single nucleotide variant	NM_005051.3(QARS1):c.1567C>T (p.Arg523Ter)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV000685922]	pathogenic	3	49099391	49099391	Human	1	name
13820093	CV563046	single nucleotide variant	NM_005051.3(QARS1):c.1170G>A (p.Met390Ile)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV000694739]\|Inborn genetic diseases [RCV005260350]\|not provided [RCV001571716]	uncertain significance	3	49100086	49100086	Human	2	name
13811267	CV576761	single nucleotide variant	NM_005051.3(QARS1):c.1612C>T (p.Arg538Trp)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001371134]\|Inborn genetic diseases [RCV004669099]\|not provided [RCV000712883]	uncertain significance	3	49099346	49099346	Human	2	name
13831480	CV590051	single nucleotide variant	NM_005051.3(QARS1):c.1430A>G (p.Tyr477Cys)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002535425]\|not provided [RCV005251182]	likely pathogenic\|uncertain significance	3	49099606	49099606	Human	1	name
14979015	CV677997	single nucleotide variant	NM_005051.3(QARS1):c.1412G>A (p.Cys471Tyr)	Attention deficit hyperactivity disorder [RCV000851207]	uncertain significance	3	49099624	49099624	Human	2	name
15156703	CV686431	single nucleotide variant	NM_005051.3(QARS1):c.1870G>C (p.Glu624Gln)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001522147]\|not provided [RCV000868287]	benign\|likely benign	3	49098686	49098686	Human	1	name
38486109	CV801799	single nucleotide variant	NM_005051.3(QARS1):c.1613G>A (p.Arg538Gln)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001208751]\|Inborn genetic diseases [RCV002549245]\|Microcephaly [RCV001252759]\|not provided [RCV001563017]	uncertain significance	3	49099345	49099345	Human	4	name
25318941	CV816450	single nucleotide variant	NM_005051.3(QARS1):c.1058G>T (p.Gly353Val)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001027994]\|Microcephaly [RCV004798883]\|not provided [RCV003227895]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	49100296	49100296	Human	3	name
26907583	CV828257	single nucleotide variant	NM_005051.3(QARS1):c.2251G>A (p.Val751Met)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001070071]	uncertain significance	3	49098018	49098018	Human	1	name
26906352	CV828258	single nucleotide variant	NM_005051.3(QARS1):c.2215G>A (p.Asp739Asn)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001062871]\|Inborn genetic diseases [RCV004960408]\|not provided [RCV001759824]	likely benign\|uncertain significance	3	49098054	49098054	Human	2	name
26899981	CV828259	single nucleotide variant	NM_005051.3(QARS1):c.2210C>A (p.Pro737His)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001038101]	uncertain significance	3	49098059	49098059	Human	1	name
26904323	CV828260	single nucleotide variant	NM_005051.3(QARS1):c.2170G>C (p.Asp724His)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001053388]	uncertain significance	3	49098099	49098099	Human	1	name
26906411	CV828261	single nucleotide variant	NM_005051.3(QARS1):c.2153C>T (p.Ala718Val)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001063267]	uncertain significance	3	49098116	49098116	Human	1	name
26907770	CV828262	single nucleotide variant	NM_005051.3(QARS1):c.2152G>C (p.Ala718Pro)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001071304]	uncertain significance	3	49098117	49098117	Human	1	name
26902619	CV828263	single nucleotide variant	NM_005051.3(QARS1):c.2075A>G (p.Tyr692Cys)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001047364]\|not provided [RCV001759771]	uncertain significance	3	49098362	49098362	Human	1	name
26906309	CV828264	single nucleotide variant	NM_005051.3(QARS1):c.2000G>A (p.Arg667Gln)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001062626]	uncertain significance	3	49098437	49098437	Human	1	name
26906886	CV828265	single nucleotide variant	NM_005051.3(QARS1):c.1979G>C (p.Ser660Thr)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001065856]	uncertain significance	3	49098458	49098458	Human	1	name
26900622	CV828266	single nucleotide variant	NM_005051.3(QARS1):c.1928A>G (p.Tyr643Cys)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001040121]	uncertain significance	3	49098628	49098628	Human	1	name
26904446	CV828267	single nucleotide variant	NM_005051.3(QARS1):c.1732A>G (p.Ile578Val)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001054182]	uncertain significance	3	49099136	49099136	Human	1	name
26902740	CV828268	single nucleotide variant	NM_005051.3(QARS1):c.1727G>A (p.Arg576Gln)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001047721]	uncertain significance	3	49099141	49099141	Human	1	name
26906992	CV828269	single nucleotide variant	NM_005051.3(QARS1):c.1699C>T (p.Arg567Ter)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001066418]	pathogenic	3	49099169	49099169	Human	1	name
26900018	CV828270	single nucleotide variant	NM_005051.3(QARS1):c.1630G>A (p.Ala544Thr)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001038208]	uncertain significance	3	49099238	49099238	Human	1	name
26901979	CV828271	single nucleotide variant	NM_005051.3(QARS1):c.1561G>A (p.Ala521Thr)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001045315]	uncertain significance	3	49099397	49099397	Human	1	name
26902103	CV828272	single nucleotide variant	NM_005051.3(QARS1):c.1528G>A (p.Asp510Asn)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001045855]	uncertain significance	3	49099430	49099430	Human	1	name
26907263	CV828273	single nucleotide variant	NM_005051.3(QARS1):c.1342A>G (p.Ile448Val)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001068321]	uncertain significance	3	49099807	49099807	Human	1	name
26899669	CV828274	single nucleotide variant	NM_005051.3(QARS1):c.1307C>T (p.Pro436Leu)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001036990]	uncertain significance	3	49099842	49099842	Human	1	name
26902139	CV828275	single nucleotide variant	NM_005051.3(QARS1):c.1304A>G (p.Tyr435Cys)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001045976]\|not provided [RCV001732024]	uncertain significance	3	49099845	49099845	Human	1	name
26907660	CV828276	single nucleotide variant	NM_005051.3(QARS1):c.1286G>A (p.Gly429Glu)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001070504]	uncertain significance	3	49099970	49099970	Human	1	name
26904543	CV828277	single nucleotide variant	NM_005051.3(QARS1):c.1280G>A (p.Arg427His)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001054718]\|not provided [RCV001540903]	uncertain significance	3	49099976	49099976	Human	1	name
26906698	CV828278	single nucleotide variant	NM_005051.3(QARS1):c.1208G>A (p.Arg403Gln)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001064740]	uncertain significance	3	49100048	49100048	Human	1	name
26906461	CV828280	single nucleotide variant	NM_005051.3(QARS1):c.1060C>G (p.Leu354Val)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001063435]\|not provided [RCV001569572]	uncertain significance	3	49100294	49100294	Human	1	name
26901280	CV828282	single nucleotide variant	NM_005051.3(QARS1):c.1004C>T (p.Ala335Val)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001042547]	uncertain significance	3	49100431	49100431	Human	1	name
26901807	CV828283	single nucleotide variant	NM_005051.3(QARS1):c.1004C>G (p.Ala335Gly)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001044647]	uncertain significance	3	49100431	49100431	Human	1	name
38489603	CV923243	single nucleotide variant	NM_005051.3(QARS1):c.2317G>A (p.Gly773Arg)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001221774]\|not provided [RCV002272418]	uncertain significance	3	49096040	49096040	Human	1	name
38477777	CV923244	single nucleotide variant	NM_005051.3(QARS1):c.2173G>C (p.Ala725Pro)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001216299]	uncertain significance	3	49098096	49098096	Human	1	name
38475714	CV923245	single nucleotide variant	NM_005051.3(QARS1):c.1978A>T (p.Ser660Cys)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001215309]	uncertain significance	3	49098459	49098459	Human	1	name
38487643	CV923246	single nucleotide variant	NM_005051.3(QARS1):c.1822T>G (p.Phe608Val)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001220830]\|Inborn genetic diseases [RCV005262296]	uncertain significance	3	49098926	49098926	Human	2	name
38493229	CV923247	single nucleotide variant	NM_005051.3(QARS1):c.1700G>A (p.Arg567Gln)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001224133]\|not provided [RCV005232190]	likely pathogenic\|uncertain significance	3	49099168	49099168	Human	1	name
38475204	CV923248	single nucleotide variant	NM_005051.3(QARS1):c.1607G>C (p.Cys536Ser)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001215072]\|not provided [RCV001664758]	uncertain significance	3	49099351	49099351	Human	1	name
38477660	CV923249	single nucleotide variant	NM_005051.3(QARS1):c.1505T>G (p.Leu502Arg)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001216242]	uncertain significance	3	49099531	49099531	Human	1	name
38467337	CV931996	single nucleotide variant	NM_005051.3(QARS1):c.1741A>G (p.Asn581Asp)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001212925]\|Inborn genetic diseases [RCV002562387]	uncertain significance	3	49099127	49099127	Human	2	name
38469735	CV931997	single nucleotide variant	NM_005051.3(QARS1):c.1309A>T (p.Thr437Ser)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001213382]	uncertain significance	3	49099840	49099840	Human	1	name
38458438	CV931998	single nucleotide variant	NM_005051.3(QARS1):c.1081C>T (p.Arg361Ter)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001211409]	pathogenic	3	49100273	49100273	Human	1	name
38458233	CV943599	single nucleotide variant	NM_005051.3(QARS1):c.2093A>C (p.His698Pro)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001228856]	uncertain significance	3	49098250	49098250	Human	1	name
38461730	CV943600	single nucleotide variant	NM_005051.3(QARS1):c.1681C>G (p.Leu561Val)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001229589]	uncertain significance	3	49099187	49099187	Human	1	name
38488762	CV943601	single nucleotide variant	NM_005051.3(QARS1):c.1164G>T (p.Glu388Asp)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001238137]	uncertain significance	3	49100190	49100190	Human	1	name
38476883	CV943602	single nucleotide variant	NM_005051.3(QARS1):c.1036G>A (p.Ala346Thr)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001233262]	uncertain significance	3	49100399	49100399	Human	1	name
38494107	CV953516	single nucleotide variant	NM_005051.3(QARS1):c.1885C>T (p.Arg629Cys)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001241122]	uncertain significance	3	49098671	49098671	Human	1	name
38493749	CV953517	single nucleotide variant	NM_005051.3(QARS1):c.1051C>T (p.Arg351Cys)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001240864]\|Inborn genetic diseases [RCV004960624]\|not provided [RCV001545512]	uncertain significance	3	49100384	49100384	Human	2	name
39456356	CV965441	single nucleotide variant	NM_005051.3(QARS1):c.1132C>G (p.Arg378Gly)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001254913]	uncertain significance	3	49100222	49100222	Human	1	name
126759480	CV989642	single nucleotide variant	NM_005051.3(QARS1):c.2290C>T (p.Arg764Ter)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001299499]	uncertain significance	3	49096067	49096067	Human	1	name
126756156	CV989643	single nucleotide variant	NM_005051.3(QARS1):c.1841T>C (p.Ile614Thr)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001308034]	uncertain significance	3	49098907	49098907	Human	1	name
126756229	CV989644	single nucleotide variant	NM_005051.3(QARS1):c.1672C>A (p.Arg558Ser)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001298524]	uncertain significance	3	49099196	49099196	Human	1	name
126743529	CV989645	single nucleotide variant	NM_005051.3(QARS1):c.1253A>G (p.Tyr418Cys)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001305714]	uncertain significance	3	49100003	49100003	Human	1	name
126743013	CV989646	single nucleotide variant	NM_005051.3(QARS1):c.1097A>G (p.Lys366Arg)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001296124]	uncertain significance	3	49100257	49100257	Human	1	name
156278453	CV2046538	microsatellite	NM_005051.3(QARS1):c.559AAG[1] (p.Lys188del)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002770294]	uncertain significance	3	49102425	49102427	Human		name
156336645	CV1906100	inversion	NM_005051.3(QARS1):c.562_563inv (p.Lys188Leu)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003090106]	uncertain significance	3	49102426	49102427	Human		name
26907418	CV828279	microsatellite	NM_005051.3(QARS1):c.1141GAG[1] (p.Glu382del)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001069190]	uncertain significance	3	49100208	49100210	Human		name
126743474	CV1019840	insertion	NM_005051.3(QARS1):c.851_852insGC (p.Ile284fs)	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy [RCV001336780]	pathogenic	3	49101379	49101380	Human		name
150440922	CV1204473	microsatellite	NM_005051.3(QARS1):c.1362_1365del (p.Leu455fs)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002579441]\|not provided [RCV001583578]	pathogenic	3	49099784	49099787	Human		name
150544789	CV1315242	deletion	NM_005051.3(QARS1):c.1256_1260del (p.Arg419fs)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001783656]	likely pathogenic	3	49099996	49100000	Human		name
150544790	CV1315243	microsatellite	NM_005051.3(QARS1):c.1325_1326del (p.His442fs)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001783657]	likely pathogenic	3	49099823	49099824	Human		name
151872569	CV1366906	duplication	NM_005051.3(QARS1):c.1391_1401dup (p.Phe468fs)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002568523]	pathogenic	3	49099634	49099635	Human	1	name
151787421	CV1416700	deletion	NM_005051.3(QARS1):c.1272_1279del (p.His426fs)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002563562]	pathogenic	3	49099977	49099984	Human	1	name
151784756	CV1454659	microsatellite	NM_005051.3(QARS1):c.1978_1979del (p.Leu661fs)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002569143]	pathogenic	3	49098458	49098459	Human		name
405247900	CV3047552	deletion	NM_005051.3(QARS1):c.1634_1637del (p.Gln545fs)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003746430]	pathogenic	3	49099231	49099234	Human	1	name
13626668	CV519575	deletion	NM_005051.3(QARS1):c.1284_1285del (p.Asp430fs)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003333093]\|Inborn genetic diseases [RCV002534224]\|not provided [RCV001855342]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	49099971	49099972	Human	2	name
13813944	CV561642	microsatellite	NM_005051.3(QARS1):c.1691_1692del (p.Thr564fs)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003583174]	pathogenic	3	49099176	49099177	Human		name
26907662	CV828281	deletion	NM_005051.3(QARS1):c.1009_1012del (p.Asp337fs)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV001070505]\|not provided [RCV003238301]	pathogenic	3	49100423	49100426	Human	1	name
151857462	CV1410601	indel	NM_005051.3(QARS1):c.96_97delinsAA (p.Leu33Met)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV002562963]	uncertain significance	3	49104637	49104638	Human		name
401913286	CV2830303	deletion	NM_005051.3(QARS1):c.1739_1741del (p.Thr580del)	not provided [RCV003441518]	uncertain significance	3	49099127	49099129	Human		name
13468543	CV452837	deletion	NM_005051.3(QARS1):c.585del (p.Arg195_Leu196insTer)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003746540]	pathogenic	3	49102251	49102251	Human	1	name

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