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More than 1000 records found for search term Rars (Displaying 1000)
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
8625985CV81129single nucleotide variantNM_002887.3(RARS):c.1441G>A (p.Glu481Lys)Malignant melanoma [RCV000061207]not provided5168510675168510675Humanname
150420928CV1197598single nucleotide variantNM_020320.5(RARS2):c.-1C>Gnot provided [RCV001577823]uncertain significance68758995887589958Humanname
8692629CV142596single nucleotide variantNM_020320.5(RARS2):c.-8A>CPontocerebellar hypoplasia type 6 [RCV000397282]|RARS2-related disorder [RCV003965065]|not specified [RCV000193180]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance68758996587589965Human1name , alternate_id
329848606CV2523350single nucleotide variantNM_002887.4(RARS1):c.-5G>Anot provided [RCV003225364]uncertain significance5168486494168486494Humanname
21071534CV790667single nucleotide variantNM_020320.5(RARS2):c.-2A>GPontocerebellar hypoplasia type 6 [RCV000987753]|not provided [RCV000118121]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance68758995987589959Human1name
150426563CV1187143single nucleotide variantNM_020320.5(RARS2):c.*55G>Tnot provided [RCV001559735]likely benign68751435887514358Humanname
8692628CV142595single nucleotide variantNM_020320.4(RARS2):c.-34T>Gnot specified [RCV000127723]benign68758999187589991Humanname
11604348CV304374single nucleotide variantNM_020320.5(RARS2):c.-13C>TPontocerebellar hypoplasia type 6 [RCV000308701]|not specified [RCV000442454]benign|likely benign|uncertain significance68758997087589970Human1name
12838756CV368505single nucleotide variantNM_002887.3(RARS1):c.-45C>Anot specified [RCV000427552]benign5168486454168486454Humanname
12841435CV368512single nucleotide variantNM_002887.3(RARS1):c.-45C>Tnot specified [RCV000432583]likely benign5168486454168486454Humanname
12840385CV368791single nucleotide variantNM_020320.5(RARS2):c.-12G>Anot specified [RCV000430606]likely benign68758996987589969Humanname
127282957CV1074108single nucleotide variantNM_020320.5(RARS2):c.36+9C>Anot provided [RCV001411481]likely benign68758991387589913Humanname
127279233CV1074109single nucleotide variantNM_020320.5(RARS2):c.36+8T>Cnot provided [RCV001408957]likely benign68758991487589914Humanname
127291772CV1138175single nucleotide variantNM_020320.5(RARS2):c.36+7A>Gnot provided [RCV001496360]likely benign68758991587589915Humanname
150504802CV1211466duplicationNM_020320.5(RARS2):c.*101dupRARS2-related disorder [RCV003980737]|not provided [RCV001595631]benign68751431187514312Human1name , alternate_id
150445473CV1248309single nucleotide variantNM_020320.5(RARS2):c.*241C>Tnot provided [RCV001667015]benign68751417287514172Humanname
150497493CV1281388deletionNM_020320.5(RARS2):c.*101delnot provided [RCV001717860]benign68751431287514312Humanname
150493595CV1282077single nucleotide variantNM_020320.5(RARS2):c.36+4T>CInborn genetic diseases [RCV002538659]|not provided [RCV001717040]likely benign|conflicting interpretations of pathogenicity|uncertain significance68758991887589918Human1name
150488331CV1283998single nucleotide variantNM_020320.5(RARS2):c.*115G>Anot provided [RCV001716084]benign68751429887514298Humanname
152040526CV1644151single nucleotide variantNM_020320.5(RARS2):c.36+9C>Gnot provided [RCV002126024]likely benign68758991387589913Humanname
152983692CV1672312single nucleotide variantNM_002887.4(RARS1):c.46-8T>Cnot provided [RCV002238045]benign5168488594168488594Humanname
9686566CV171797single nucleotide variantNM_002887.4(RARS1):c.45+1G>THypomyelinating leukodystrophy 9 [RCV000149499]pathogenic5168486544168486544Human1name
156437643CV1940976single nucleotide variantNM_020320.5(RARS2):c.36+9C>Tnot provided [RCV003107183]likely benign68758991387589913Humanname
243051557CV2415948single nucleotide variantNM_020320.5(RARS2):c.36+1G>TPontocerebellar hypoplasia type 6 [RCV003148572]|not provided [RCV003679162]likely pathogenic68758992187589921Human1name
401947970CV2833287single nucleotide variantNM_020320.5(RARS2):c.36+2T>APontocerebellar hypoplasia type 6 [RCV003471804]|not provided [RCV003779094]likely pathogenic68758992087589920Human1name
405211239CV2917207single nucleotide variantNM_020320.5(RARS2):c.37-4T>Cnot provided [RCV003567197]likely benign68756959487569594Humanname
405659485CV3312223single nucleotide variantNM_002887.4(RARS1):c.45+6G>AInborn genetic diseases [RCV004438543]uncertain significance5168486549168486549Human1name
405659490CV3312224single nucleotide variantNM_002887.4(RARS1):c.46-4A>GInborn genetic diseases [RCV004438544]uncertain significance5168488598168488598Human1name
597847877CV3792873deletionNM_020320.5(RARS2):c.37-3delnot provided [RCV005145009]benign68756959387569593Humanname
598129517CV3886932single nucleotide variantNM_020320.5(RARS2):c.*110G>Anot provided [RCV005244992]likely benign68751430387514303Humanname
38492043CV960615single nucleotide variantNM_020320.5(RARS2):c.36+1G>Anot provided [RCV001239856]likely pathogenic68758992187589921Humanname
126727156CV1016801single nucleotide variantNM_020320.5(RARS2):c.536-5G>APontocerebellar hypoplasia type 6 [RCV001332321]|not specified [RCV001586133]uncertain significance68754199987541999Human1name
126740397CV1020068single nucleotide variantNM_002887.4(RARS1):c.180+2T>Cnot provided [RCV002790959]pathogenic|likely pathogenic5168488738168488738Humanname
127254340CV1055639single nucleotide variantNM_020320.5(RARS2):c.879-1G>CPontocerebellar hypoplasia type 6 [RCV003462959]|not provided [RCV001379135]pathogenic|likely pathogenic68752465387524653Human1name
127251928CV1055640single nucleotide variantNM_020320.5(RARS2):c.771+1G>Tnot provided [RCV001378651]likely pathogenic68753078387530783Humanname
127250594CV1055642single nucleotide variantNM_020320.5(RARS2):c.297+1G>Anot provided [RCV001378388]pathogenic|likely pathogenic68756270187562701Humanname
127265603CV1060919deletionNM_020320.5(RARS2):c.297+1delnot provided [RCV001388495]pathogenic68756270187562701Humanname
127251503CV1074107single nucleotide variantNM_020320.5(RARS2):c.396-9T>Cnot provided [RCV001417797]likely benign68754865587548655Humanname
127277156CV1095672single nucleotide variantNM_020320.5(RARS2):c.771+7G>Tnot provided [RCV001444224]likely benign68753077787530777Humanname
127233688CV1095679single nucleotide variantNM_020320.5(RARS2):c.298-4T>Gnot provided [RCV001421839]likely benign68755550987555509Humanname
127312294CV1117261single nucleotide variantNM_020320.5(RARS2):c.613-7C>Tnot provided [RCV001457113]likely benign68753094987530949Humanname
127325495CV1138165single nucleotide variantNM_020320.5(RARS2):c.613-9T>Cnot provided [RCV001485819]likely benign68753095187530951Humanname
150424772CV1183892single nucleotide variantNM_020320.5(RARS2):c.213+5G>Anot provided [RCV001557108]likely benign|conflicting interpretations of pathogenicity68756412587564125Humanname
150411884CV1197596single nucleotide variantNM_020320.5(RARS2):c.37-89A>Gnot provided [RCV001574171]likely benign68756967987569679Humanname
150436590CV1234083single nucleotide variantNM_002887.4(RARS1):c.45+55C>Tnot provided [RCV001644210]benign5168486598168486598Humanname
151776273CV1413736deletionNM_020320.5(RARS2):c.879-2delPontocerebellar hypoplasia type 6 [RCV005042635]|not provided [RCV001971657]likely pathogenic68752465487524654Human1name
151724974CV1437184single nucleotide variantNM_020320.5(RARS2):c.771+2T>GPontocerebellar hypoplasia type 6 [RCV003464384]|not provided [RCV002004151]likely pathogenic68753078287530782Human1name
151801069CV1442234single nucleotide variantNM_020320.5(RARS2):c.771+1G>Anot provided [RCV002011576]likely pathogenic68753078387530783Humanname
151738721CV1455102single nucleotide variantNM_020320.5(RARS2):c.772-1G>APontocerebellar hypoplasia type 6 [RCV002492238]|not provided [RCV002005600]likely pathogenic68752964987529649Human1name
152144646CV1582549single nucleotide variantNM_020320.5(RARS2):c.111-6C>Tnot provided [RCV002201050]likely benign68756423887564238Humanname
8555856CV15930single nucleotide variantNM_020320.5(RARS2):c.110+5A>GPontocerebellar hypoplasia type 6 [RCV000000939]|not provided [RCV001093189]pathogenic68756951287569512Human1name
152037832CV1596511single nucleotide variantNM_020320.5(RARS2):c.535+8C>Tnot provided [RCV002125635]likely benign68754560887545608Humanname
152036541CV1605330single nucleotide variantNM_020320.5(RARS2):c.36+10C>Tnot provided [RCV002087303]likely benign68758991287589912Humanname
152074814CV1611120single nucleotide variantNM_020320.5(RARS2):c.213+9G>Cnot provided [RCV002130073]likely benign68756412187564121Humanname
152039423CV1617141single nucleotide variantNM_020320.5(RARS2):c.535+9A>Gnot provided [RCV002087734]likely benign68754560787545607Humanname
152069761CV1640229single nucleotide variantNM_020320.5(RARS2):c.612+9G>Tnot provided [RCV002147915]likely benign68754190987541909Humanname
152983691CV1672311single nucleotide variantNM_002887.4(RARS1):c.45+19G>Anot provided [RCV002238044]likely benign5168486562168486562Humanname
152983699CV1672322single nucleotide variantNM_002887.4(RARS1):c.823-8A>Gnot provided [RCV002238052]likely benign5168500583168500583Humanname
155733771CV1781109single nucleotide variantNM_020320.5(RARS2):c.612+2T>Anot provided [RCV002308897]likely pathogenic68754191687541916Humanname
156361068CV1874230single nucleotide variantNM_020320.5(RARS2):c.974+8G>Anot provided [RCV003065619]likely benign68752454987524549Humanname
156056532CV1892092single nucleotide variantNM_020320.5(RARS2):c.878+5G>TPontocerebellar hypoplasia type 6 [RCV003465947]|not provided [RCV003079068]likely pathogenic68752953787529537Human1name
156106003CV1917214single nucleotide variantNM_020320.5(RARS2):c.395+9G>Anot provided [RCV002592450]likely benign68755539987555399Humanname
156050707CV1931867single nucleotide variantNM_020320.5(RARS2):c.974+1G>Anot provided [RCV002620595]likely pathogenic68752455687524556Humanname
156269728CV1970894single nucleotide variantNM_020320.5(RARS2):c.395+2T>Cnot provided [RCV002598051]likely pathogenic68755540687555406Humanname
156331165CV2061350deletionNM_020320.5(RARS2):c.395+1delnot provided [RCV002810687]pathogenic68755540787555407Humanname
156115413CV2065776single nucleotide variantNM_020320.5(RARS2):c.395+3G>Tnot provided [RCV002871057]uncertain significance68755540587555405Humanname
156111120CV2069015single nucleotide variantNM_020320.5(RARS2):c.396-8T>Cnot provided [RCV002870901]likely benign68754865487548654Humanname
156044890CV2094302single nucleotide variantNM_020320.5(RARS2):c.297+7A>Gnot provided [RCV002885956]likely benign68756269587562695Humanname
10409608CV211285deletionNM_020320.5(RARS2):c.772-3delPontocerebellar hypoplasia type 6 [RCV001273125]|not provided [RCV001556648]|not specified [RCV000196463]pathogenic|likely pathogenic|likely benign|uncertain significance|no classifications from unflagged records68752965187529651Human1name
156338242CV2188182single nucleotide variantNM_020320.5(RARS2):c.613-7C>Gnot provided [RCV003064088]uncertain significance68753094987530949Humanname
243050728CV2415564single nucleotide variantNM_002887.4(RARS1):c.180+5G>AHypomyelinating leukodystrophy 9 [RCV003148162]uncertain significance5168488741168488741Human1name
401720618CV2737282single nucleotide variantNM_020320.5(RARS2):c.536-1G>APontocerebellar hypoplasia type 6 [RCV003314221]likely pathogenic68754199587541995Human1name
401948090CV2833268single nucleotide variantNM_020320.5(RARS2):c.452-1G>APontocerebellar hypoplasia type 6 [RCV003471794]likely pathogenic68754570087545700Human1name
401948084CV2833271single nucleotide variantNM_020320.5(RARS2):c.297+1G>TPontocerebellar hypoplasia type 6 [RCV003471796]|not provided [RCV003689097]pathogenic|likely pathogenic68756270187562701Human1name
401948081CV2833272single nucleotide variantNM_020320.5(RARS2):c.395+1G>APontocerebellar hypoplasia type 6 [RCV003471797]|not provided [RCV003661063]likely pathogenic68755540787555407Human1name
401948076CV2833275single nucleotide variantNM_020320.5(RARS2):c.297+1G>CPontocerebellar hypoplasia type 6 [RCV003471799]|Pontoneocerebellar hypoplasia [RCV003492880]|not provided [RCV003779093]pathogenic|likely pathogenic68756270187562701Human3name
401947979CV2833294single nucleotide variantNM_020320.5(RARS2):c.535+2T>GPontocerebellar hypoplasia type 6 [RCV003471808]likely pathogenic68754561487545614Human1name
401943963CV2833299single nucleotide variantNM_020320.5(RARS2):c.111-2A>GPontocerebellar hypoplasia type 6 [RCV003463479]|not provided [RCV003779095]likely pathogenic68756423487564234Human1name
404993257CV2852663single nucleotide variantNM_020320.5(RARS2):c.213+4C>TRARS2-related disorder [RCV003954226]|not specified [RCV003490843]likely benign|uncertain significance68756412687564126Human1name , alternate_id
402514506CV2855572single nucleotide variantNM_020320.5(RARS2):c.396-1G>Anot provided [RCV003547291]likely pathogenic68754864787548647Humanname
402492248CV2863190single nucleotide variantNM_020320.5(RARS2):c.613-1G>Anot provided [RCV003573132]likely pathogenic68753094387530943Humanname
405237364CV2881157single nucleotide variantNM_020320.5(RARS2):c.396-2A>Gnot provided [RCV003556661]likely pathogenic68754864887548648Humanname
402464648CV2916368deletionNM_020320.5(RARS2):c.396-5delnot provided [RCV003569061]benign68754865187548651Humanname
405185278CV2921215single nucleotide variantNM_020320.5(RARS2):c.37-19T>Gnot provided [RCV003564394]likely benign68756960987569609Humanname
405214816CV2925128single nucleotide variantNM_002887.4(RARS1):c.580-4C>Gnot provided [RCV003567578]likely benign5168495311168495311Humanname
402503459CV2933379single nucleotide variantNM_020320.5(RARS2):c.37-13T>Anot provided [RCV003574233]likely benign68756960387569603Humanname
402521344CV2940155single nucleotide variantNM_020320.5(RARS2):c.36+16C>Tnot provided [RCV003663328]likely benign68758990687589906Humanname
405087491CV2943219single nucleotide variantNM_020320.5(RARS2):c.37-15C>Gnot provided [RCV003664980]likely benign68756960587569605Humanname
405069156CV2944734single nucleotide variantNM_020320.5(RARS2):c.536-6T>Cnot provided [RCV003663875]likely benign68754200087542000Humanname
405155995CV2949442single nucleotide variantNM_002887.4(RARS1):c.181-8T>Anot provided [RCV003674263]likely benign5168492651168492651Humanname
405172294CV2961456single nucleotide variantNM_020320.5(RARS2):c.110+9T>Cnot provided [RCV003675517]likely benign68756950887569508Humanname
405233264CV2965474single nucleotide variantNM_020320.5(RARS2):c.37-16T>Cnot provided [RCV003682606]likely benign68756960687569606Humanname
405226684CV2967178single nucleotide variantNM_020320.5(RARS2):c.612+8G>Anot provided [RCV003681541]likely benign68754191087541910Humanname
405212104CV2974445duplicationNM_020320.5(RARS2):c.613-3dupnot provided [RCV003679544]benign68753094487530945Humanname
405248587CV2990269single nucleotide variantNM_020320.5(RARS2):c.535+9A>Tnot provided [RCV003685954]likely benign68754560787545607Humanname
404993487CV2995916single nucleotide variantNM_020320.5(RARS2):c.37-19T>Cnot provided [RCV003692513]likely benign68756960987569609Humanname
405154099CV3027969single nucleotide variantNM_020320.5(RARS2):c.36+16C>Anot provided [RCV003703492]likely benign68758990687589906Humanname
405086575CV3028517single nucleotide variantNM_020320.5(RARS2):c.535+1G>Cnot provided [RCV003699443]likely pathogenic68754561587545615Humanname
405182728CV3031874single nucleotide variantNM_020320.5(RARS2):c.36+13G>Anot provided [RCV003705702]likely benign68758990987589909Humanname
11600138CV304366single nucleotide variantNM_020320.5(RARS2):c.879-6T>CPontocerebellar hypoplasia type 6 [RCV000271469]|RARS2-related disorder [RCV003902394]|not provided [RCV000876768]benign|uncertain significance68752465887524658Human1name , alternate_id
405216944CV3055773single nucleotide variantNM_020320.5(RARS2):c.36+16C>Gnot provided [RCV003732775]likely benign68758990687589906Humanname
405194457CV3062823single nucleotide variantNM_020320.5(RARS2):c.36+20C>Tnot provided [RCV003730038]likely benign68758990287589902Humanname
405159049CV3065108single nucleotide variantNM_002887.4(RARS1):c.579+8T>Gnot provided [RCV003726860]likely benign5168494658168494658Humanname
405032892CV3075104single nucleotide variantNM_020320.5(RARS2):c.536-8C>Tnot provided [RCV003739281]likely benign68754200287542002Humanname
405119499CV3131099single nucleotide variantNM_020320.5(RARS2):c.36+17G>Cnot provided [RCV003837155]likely benign68758990587589905Humanname
404986105CV3135420single nucleotide variantNM_020320.5(RARS2):c.772-4T>Cnot provided [RCV003826715]likely benign68752965287529652Humanname
405083544CV3137591single nucleotide variantNM_020320.5(RARS2):c.36+15G>Anot provided [RCV003834300]likely benign68758990787589907Humanname
405251796CV3181358single nucleotide variantNM_020320.5(RARS2):c.36+11C>Tnot provided [RCV003870360]likely benign68758991187589911Humanname
405281045CV3223840single nucleotide variantNM_020320.5(RARS2):c.878+3A>Gnot specified [RCV003988218]uncertain significance68752953987529539Humanname
405659478CV3312221single nucleotide variantNM_002887.4(RARS1):c.369+3G>AInborn genetic diseases [RCV004438541]uncertain significance5168492850168492850Human1name
405867838CV3396663single nucleotide variantNM_020320.5(RARS2):c.612+2T>GPontocerebellar hypoplasia type 6 [RCV004560535]likely pathogenic68754191687541916Human1name
405871167CV3399266single nucleotide variantNM_020320.5(RARS2):c.298-1G>APontocerebellar hypoplasia type 6 [RCV004574697]pathogenic68755550687555506Human1name
405871168CV3399267single nucleotide variantNM_020320.5(RARS2):c.613-2A>CPontocerebellar hypoplasia type 6 [RCV004574698]likely pathogenic68753094487530944Human1name
405871179CV3399273single nucleotide variantNM_020320.5(RARS2):c.451+1G>APontocerebellar hypoplasia type 6 [RCV004574704]likely pathogenic68754859087548590Human1name
596931323CV3531659deletionNM_020320.5(RARS2):c.878+5delnot provided [RCV004781221]uncertain significance68752953787529537Humanname
12843586CV368519single nucleotide variantNM_002887.4(RARS1):c.479-5A>Gnot provided [RCV001697810]likely benign5168494545168494545Humanname
12835080CV368782single nucleotide variantNM_020320.5(RARS2):c.451+9T>Cnot specified [RCV000421070]likely benign68754858287548582Humanname
12840438CV369334single nucleotide variantNM_020320.5(RARS2):c.536-7A>Gnot provided [RCV002063466]|not specified [RCV000430710]likely benign68754200187542001Humanname
597686006CV3718704single nucleotide variantNM_020320.5(RARS2):c.214-2A>GPontocerebellar hypoplasia type 6 [RCV005045875]likely pathogenic68756278787562787Human1name
597686017CV3718705single nucleotide variantNM_020320.5(RARS2):c.110+2T>GPontocerebellar hypoplasia type 6 [RCV005045876]likely pathogenic68756951587569515Human1name
13526283CV501271single nucleotide variantNM_002887.4(RARS1):c.46-16G>Tnot specified [RCV000603930]likely benign5168488586168488586Humanname
13526854CV502117single nucleotide variantNM_020320.5(RARS2):c.772-4T>Gnot specified [RCV000604695]likely benign68752965287529652Humanname
15132470CV775108single nucleotide variantNM_020320.5(RARS2):c.878+7T>Cnot provided [RCV000942405]likely benign68752953587529535Humanname
15127042CV775225single nucleotide variantNM_020320.5(RARS2):c.974+8G>Tnot provided [RCV000941482]likely benign68752454987524549Humanname
15106118CV787484single nucleotide variantNM_020320.5(RARS2):c.110+8A>Gnot provided [RCV000976572]likely benign68756950987569509Humanname
38487323CV940053single nucleotide variantNM_020320.5(RARS2):c.297+2T>GPontocerebellar hypoplasia type 6 [RCV002491637]|not provided [RCV001209269]pathogenic|likely pathogenic68756270087562700Human1name
127247185CV1074097single nucleotide variantNM_020320.5(RARS2):c.1416-6G>Cnot provided [RCV001416864]likely benign68751827087518270Humanname
127238735CV1074105single nucleotide variantNM_020320.5(RARS2):c.771+10G>Anot provided [RCV001392526]likely benign68753077487530774Humanname
127257774CV1095667single nucleotide variantNM_020320.5(RARS2):c.1587-9C>Gnot provided [RCV001437957]likely benign68751502987515029Humanname
127280753CV1095677single nucleotide variantNM_020320.5(RARS2):c.451+10T>Cnot provided [RCV001446707]likely benign68754858187548581Humanname
127308685CV1117243single nucleotide variantNM_020320.5(RARS2):c.1651-8T>Cnot provided [RCV001456139]likely benign68751450787514507Humanname
127298986CV1117246single nucleotide variantNM_020320.5(RARS2):c.1512-7C>Anot provided [RCV001460683]likely benign68751688787516887Humanname
127332382CV1117251single nucleotide variantNM_020320.5(RARS2):c.1237+9A>Cnot provided [RCV001472182]likely benign68751957487519574Humanname
127321965CV1117253single nucleotide variantNM_020320.5(RARS2):c.1113-7C>Tnot provided [RCV001467420]likely benign68751971487519714Humanname
127315229CV1138163single nucleotide variantNM_020320.5(RARS2):c.878+10G>Anot provided [RCV001502660]likely benign68752953287529532Humanname
127308152CV1138169single nucleotide variantNM_020320.5(RARS2):c.395+10C>Tnot provided [RCV001500722]likely benign68755539887555398Humanname
127311602CV1138172single nucleotide variantNM_020320.5(RARS2):c.213+10C>Tnot provided [RCV001501647]likely benign68756412087564120Humanname
127328613CV1138173single nucleotide variantNM_020320.5(RARS2):c.110+10A>Tnot provided [RCV001486868]likely benign68756950787569507Humanname
127296862CV1154995duplicationNM_002887.4(RARS1):c.1626-4dupnot provided [RCV001512665]benign5168517803168517804Humanname
127320194CV1155512duplicationNM_020320.5(RARS2):c.396-12dupnot provided [RCV001522512]benign68754865087548651Humanname
150409155CV1175149single nucleotide variantNM_020320.5(RARS2):c.111-21C>TPontocerebellar hypoplasia type 6 [RCV001543860]|not provided [RCV001638144]benign68756425387564253Human1name
150416394CV1180239single nucleotide variantNM_020320.5(RARS2):c.613-48A>Gnot provided [RCV001549604]likely benign68753099087530990Humanname
150428177CV1186902single nucleotide variantNM_002887.4(RARS1):c.45+276G>Anot provided [RCV001561916]likely benign5168486819168486819Humanname
150428444CV1187144single nucleotide variantNM_020320.5(RARS2):c.111-41T>Anot provided [RCV001562277]likely benign68756427387564273Humanname
150412795CV1190340single nucleotide variantNM_002887.4(RARS1):c.180+61C>Gnot provided [RCV001567017]likely benign5168488797168488797Humanname
150405808CV1190566single nucleotide variantNM_020320.5(RARS2):c.396-13A>Tnot provided [RCV001564452]benign|likely benign68754865987548659Humanname
150420608CV1193842single nucleotide variantNM_020320.5(RARS2):c.111-50C>Anot provided [RCV001570196]likely benign68756428287564282Humanname
150420915CV1197597single nucleotide variantNM_020320.5(RARS2):c.36+193T>Anot provided [RCV001577818]likely benign68758972987589729Humanname
150495305CV1204979deletionNM_020320.5(RARS2):c.37-304delnot provided [RCV001593471]likely benign68756989487569894Humanname
150431118CV1206243single nucleotide variantNM_002887.4(RARS1):c.580-43T>Cnot provided [RCV001580891]likely benign5168495272168495272Humanname
150467159CV1207049single nucleotide variantNM_020320.5(RARS2):c.36+283G>Cnot provided [RCV001587841]likely benign68758963987589639Humanname
150447875CV1216179single nucleotide variantNM_002887.4(RARS1):c.45+252C>Tnot provided [RCV001611477]benign5168486795168486795Humanname
150505112CV1222812single nucleotide variantNM_002887.4(RARS1):c.181-41T>AHypomyelinating leukodystrophy 9 [RCV001796619]|not provided [RCV001621746]benign5168492618168492618Human1name
150492523CV1225491single nucleotide variantNM_020320.5(RARS2):c.37-336A>Gnot provided [RCV001619006]benign68756992687569926Humanname
150516956CV1227395single nucleotide variantNM_002887.4(RARS1):c.702-59T>Gnot provided [RCV001639496]benign5168497169168497169Humanname
150511506CV1229479single nucleotide variantNM_002887.4(RARS1):c.823-55A>Tnot provided [RCV001637408]benign5168500536168500536Humanname
150457954CV1237147single nucleotide variantNM_002887.4(RARS1):c.478+40C>GHypomyelinating leukodystrophy 9 [RCV001796636]|not provided [RCV001648826]benign5168494042168494042Human1name
150498478CV1282048single nucleotide variantNM_002887.4(RARS1):c.701+22A>Gnot provided [RCV001718026]benign5168495458168495458Humanname
150544808CV1315256single nucleotide variantNM_020320.5(RARS2):c.1416-2A>CPontocerebellar hypoplasia type 6 [RCV001783670]likely pathogenic68751826687518266Human1name
151785589CV1369425single nucleotide variantNM_020320.5(RARS2):c.1511+2T>Cnot provided [RCV002046571]likely pathogenic68751816787518167Humanname
8692626CV142593single nucleotide variantNM_020320.5(RARS2):c.111-20G>Anot provided [RCV002055769]|not specified [RCV000127719]benign68756425287564252Humanname
8692630CV142597single nucleotide variantNM_020320.5(RARS2):c.878+17A>Gnot provided [RCV002055770]|not specified [RCV000127726]benign68752952587529525Humanname
8692631CV142598single nucleotide variantNM_020320.5(RARS2):c.878+19T>Gnot provided [RCV002055771]|not specified [RCV000127727]benign68752952387529523Humanname
8692633CV142600single nucleotide variantNM_020320.5(RARS2):c.975-14C>TPontocerebellar hypoplasia type 6 [RCV000306525]|not provided [RCV002055772]|not specified [RCV000127729]benign|likely benign|uncertain significance68752153887521538Human1name
151873231CV1429686single nucleotide variantNM_020320.5(RARS2):c.1587-1G>Cnot provided [RCV001998618]likely pathogenic68751502187515021Humanname
151849424CV1451923single nucleotide variantNM_020320.5(RARS2):c.1415+2T>CPontocerebellar hypoplasia type 6 [RCV002486675]|not provided [RCV002016372]likely pathogenic68751862887518628Human1name
151716192CV1472758single nucleotide variantNM_020320.5(RARS2):c.1238-2A>GPontocerebellar hypoplasia type 6 [RCV003464161]|not provided [RCV002039374]likely pathogenic68751889387518893Human1name
151734677CV1501267single nucleotide variantNM_020320.5(RARS2):c.1511+1G>APontoneocerebellar hypoplasia [RCV003317564]|not provided [RCV002005150]likely pathogenic68751816887518168Human2name
152142314CV1586627single nucleotide variantNM_020320.5(RARS2):c.1036-4C>Anot provided [RCV002178220]likely benign68752026087520260Humanname
152068006CV1600459single nucleotide variantNM_020320.5(RARS2):c.297+16T>Cnot provided [RCV002111060]likely benign68756268687562686Humanname
152054281CV1633028single nucleotide variantNM_020320.5(RARS2):c.1416-9T>Cnot provided [RCV002127584]likely benign68751827387518273Humanname
152043753CV1637737single nucleotide variantNM_020320.5(RARS2):c.1511+7T>Cnot provided [RCV002144842]likely benign68751816287518162Humanname
152138149CV1657790single nucleotide variantNM_020320.5(RARS2):c.1036-5C>Tnot provided [RCV002177694]likely benign68752026187520261Humanname
152978253CV1672314single nucleotide variantNM_002887.4(RARS1):c.369+10T>Anot provided [RCV002236519]likely benign5168492857168492857Humanname
152978258CV1672315single nucleotide variantNM_002887.4(RARS1):c.369+14A>Gnot provided [RCV002236520]likely benign5168492861168492861Humanname
152983693CV1672316single nucleotide variantNM_002887.4(RARS1):c.370-12A>Gnot provided [RCV002238046]likely benign5168493882168493882Humanname
152983697CV1672320single nucleotide variantNM_002887.4(RARS1):c.701+19C>Tnot provided [RCV002238050]likely benign5168495455168495455Humanname
152983710CV1672337single nucleotide variantNM_002887.4(RARS1):c.1347-9A>Gnot provided [RCV002238063]likely benign|conflicting interpretations of pathogenicity5168510572168510572Humanname
152983711CV1672338single nucleotide variantNM_002887.4(RARS1):c.1347-7T>Gnot provided [RCV002238064]likely benign5168510574168510574Humanname
152983712CV1672339single nucleotide variantNM_002887.4(RARS1):c.1347-3T>Cnot provided [RCV002238065]uncertain significance5168510578168510578Humanname
152983720CV1672349single nucleotide variantNM_002887.4(RARS1):c.1873+5G>Anot provided [RCV002238073]uncertain significance5168518067168518067Humanname
152978298CV1672353single nucleotide variantNM_002887.4(RARS1):c.1874-1G>Cnot provided [RCV002236530]uncertain significance5168519080168519080Humanname
153350010CV1693882single nucleotide variantNM_002887.4(RARS1):c.370-26A>Gnot provided [RCV002276446]uncertain significance5168493868168493868Humanname
155803730CV1858296single nucleotide variantNM_020320.5(RARS2):c.1237+1G>CPontocerebellar hypoplasia type 6 [RCV003465770]|not provided [RCV002462605]likely pathogenic68751958287519582Human1name
155999675CV1872729single nucleotide variantNM_002887.4(RARS1):c.702-10T>Anot provided [RCV003076521]uncertain significance5168497218168497218Humanname
156173726CV1881487single nucleotide variantNM_020320.5(RARS2):c.975-18A>Cnot provided [RCV003083319]likely benign68752154287521542Humanname
156363423CV1881511single nucleotide variantNM_020320.5(RARS2):c.214-18G>Anot provided [RCV003065786]likely benign68756280387562803Humanname
156403201CV1885681single nucleotide variantNM_020320.5(RARS2):c.1650+4C>Tnot provided [RCV003069424]|not specified [RCV004765663]uncertain significance68751495387514953Humanname
156361843CV1899056single nucleotide variantNM_020320.5(RARS2):c.879-17C>Gnot provided [RCV003091764]likely benign68752466987524669Humanname
156214935CV1903250single nucleotide variantNM_020320.5(RARS2):c.1415+6A>Gnot provided [RCV003084757]uncertain significance68751862487518624Humanname
156129014CV1924532single nucleotide variantNM_020320.5(RARS2):c.536-16C>Tnot provided [RCV002640638]likely benign68754201087542010Humanname
156354111CV1962241single nucleotide variantNM_020320.5(RARS2):c.1586+8A>Gnot provided [RCV002581268]likely benign68751679887516798Humanname
156381240CV1964300single nucleotide variantNM_002887.4(RARS1):c.823-15T>Anot provided [RCV002583181]likely benign5168500576168500576Humanname
156216540CV1980336single nucleotide variantNM_002887.4(RARS1):c.953-16T>Gnot provided [RCV002626284]likely benign5168501985168501985Humanname
155902402CV1999263single nucleotide variantNM_020320.5(RARS2):c.1416-8T>Cnot provided [RCV002681184]likely benign68751827287518272Humanname
156308320CV1999943single nucleotide variantNM_020320.5(RARS2):c.111-16C>Tnot provided [RCV002671493]likely benign68756424887564248Humanname
156084514CV2012147single nucleotide variantNM_002887.4(RARS1):c.1058-5C>Tnot provided [RCV002706100]likely benign5168506016168506016Humanname
156232412CV2024532single nucleotide variantNM_020320.5(RARS2):c.1113-4T>Gnot provided [RCV002745357]likely benign68751971187519711Humanname
156371509CV2031154single nucleotide variantNM_020320.5(RARS2):c.536-10A>Gnot provided [RCV002721552]likely benign68754200487542004Humanname
156373451CV2052594single nucleotide variantNM_020320.5(RARS2):c.1415+8G>Tnot provided [RCV002814485]likely benign68751862287518622Humanname
156288362CV2068659single nucleotide variantNM_002887.4(RARS1):c.822+19T>Gnot provided [RCV002856646]likely benign5168497367168497367Humanname
155958728CV2087173single nucleotide variantNM_020320.5(RARS2):c.1416-1G>Anot provided [RCV002862752]likely pathogenic68751826587518265Humanname
155969287CV2139636single nucleotide variantNM_020320.5(RARS2):c.1511+4T>GInborn genetic diseases [RCV002995545]|not provided [RCV002995546]|not specified [RCV005239587]uncertain significance68751816587518165Human1name
156082863CV2144560single nucleotide variantNM_020320.5(RARS2):c.1512-1G>APontocerebellar hypoplasia type 6 [RCV003464650]|not provided [RCV003020408]likely pathogenic68751688187516881Human1name
156025708CV2145667single nucleotide variantNM_020320.5(RARS2):c.1650+8A>Tnot provided [RCV003018447]likely benign68751494987514949Humanname
156191336CV2162080single nucleotide variantNM_002887.4(RARS1):c.579+12C>Tnot provided [RCV003041660]likely benign5168494662168494662Humanname
156372008CV2174673single nucleotide variantNM_020320.5(RARS2):c.1112+2T>Anot provided [RCV003049780]likely pathogenic68752017887520178Humanname
11548039CV252542single nucleotide variantNM_020320.5(RARS2):c.111-19T>GPontocerebellar hypoplasia type 6 [RCV001543859]|not provided [RCV001711825]|not specified [RCV000248561]benign68756425187564251Human1name
401918229CV2825533single nucleotide variantNM_002887.4(RARS1):c.1873+4A>Tnot provided [RCV003429980]likely benign5168518066168518066Humanname
401943894CV2833261single nucleotide variantNM_020320.5(RARS2):c.1306-1G>APontocerebellar hypoplasia type 6 [RCV003463457]likely pathogenic68751874087518740Human1name
401948074CV2833277single nucleotide variantNM_020320.5(RARS2):c.1650+1G>TPontocerebellar hypoplasia type 6 [RCV003471800]|not provided [RCV003738472]pathogenic|likely pathogenic68751495687514956Human1name
401943937CV2833284single nucleotide variantNM_020320.5(RARS2):c.1305+2T>CPontocerebellar hypoplasia type 6 [RCV003463470]likely pathogenic68751882287518822Human1name
401943948CV2833292single nucleotide variantNM_020320.5(RARS2):c.1035+2T>GPontocerebellar hypoplasia type 6 [RCV003463474]|not provided [RCV003689098]likely pathogenic68752146287521462Human1name
401943955CV2833296single nucleotide variantNM_020320.5(RARS2):c.1415+1G>APontocerebellar hypoplasia type 6 [RCV003463476]|not provided [RCV003553965]likely pathogenic68751862987518629Human1name
401943960CV2833298single nucleotide variantNM_020320.5(RARS2):c.1113-2A>GPontocerebellar hypoplasia type 6 [RCV003463478]|not provided [RCV003679224]likely pathogenic68751970987519709Human1name
402475717CV2857045single nucleotide variantNM_020320.5(RARS2):c.298-19A>Gnot provided [RCV003543337]likely benign68755552487555524Humanname
405083127CV2865025deletionNM_020320.5(RARS2):c.772-15delnot provided [RCV003549380]likely benign68752966387529663Humanname
405195927CV2868816single nucleotide variantNM_020320.5(RARS2):c.613-15C>Tnot provided [RCV003550829]likely benign68753095787530957Humanname
405219439CV2870119single nucleotide variantNM_020320.5(RARS2):c.1512-8T>Anot provided [RCV003553656]likely benign68751688887516888Humanname
402499423CV2872004deletionNM_020320.5(RARS2):c.1587-9delnot provided [RCV003545746]likely benign68751502987515029Humanname
405194609CV2872395single nucleotide variantNM_020320.5(RARS2):c.1035+1G>Tnot provided [RCV003550671]likely pathogenic68752146387521463Humanname
402521562CV2899981single nucleotide variantNM_020320.5(RARS2):c.772-16T>Anot provided [RCV003575897]likely benign68752966487529664Humanname
402521665CV2900003single nucleotide variantNM_020320.5(RARS2):c.771+19T>Gnot provided [RCV003575905]likely benign68753076587530765Humanname
405112079CV2900389single nucleotide variantNM_020320.5(RARS2):c.613-13A>Gnot provided [RCV003558022]likely benign68753095587530955Humanname
402473168CV2908828single nucleotide variantNM_020320.5(RARS2):c.613-10G>Anot provided [RCV003570931]likely benign68753095287530952Humanname
405180355CV2913967single nucleotide variantNM_020320.5(RARS2):c.1587-7G>Anot provided [RCV003563905]likely benign68751502787515027Humanname
405202519CV2915031single nucleotide variantNM_020320.5(RARS2):c.1650+8A>Gnot provided [RCV003566089]likely benign68751494987514949Humanname
402474535CV2919535single nucleotide variantNM_020320.5(RARS2):c.110+11A>Tnot provided [RCV003571081]likely benign68756950687569506Humanname
405070136CV2933313single nucleotide variantNM_020320.5(RARS2):c.395+11A>Gnot provided [RCV003581064]likely benign68755539787555397Humanname
402525331CV2937127single nucleotide variantNM_020320.5(RARS2):c.612+12A>Gnot provided [RCV003663609]likely benign68754190687541906Humanname
405100652CV2948115single nucleotide variantNM_020320.5(RARS2):c.1587-7G>Cnot provided [RCV003666101]likely benign68751502787515027Humanname
405175839CV2951870single nucleotide variantNM_020320.5(RARS2):c.213+15T>Gnot provided [RCV003675820]likely benign68756411587564115Humanname
405121196CV2952316single nucleotide variantNM_020320.5(RARS2):c.298-18C>Tnot provided [RCV003671415]likely benign68755552387555523Humanname
405130238CV2953646single nucleotide variantNM_020320.5(RARS2):c.536-18T>Cnot provided [RCV003672344]likely benign68754201287542012Humanname
405173868CV2955377single nucleotide variantNM_020320.5(RARS2):c.297+18T>Cnot provided [RCV003675603]likely benign68756268487562684Humanname
405118333CV2955717single nucleotide variantNM_020320.5(RARS2):c.395+15C>Anot provided [RCV003671120]likely benign68755539387555393Humanname
405151218CV2957072single nucleotide variantNM_020320.5(RARS2):c.395+19T>Gnot provided [RCV003670072]likely benign68755538987555389Humanname
405214415CV2971335single nucleotide variantNM_020320.5(RARS2):c.771+19T>Anot provided [RCV003679730]likely benign68753076587530765Humanname
405236046CV2973320single nucleotide variantNM_020320.5(RARS2):c.1036-5C>Anot provided [RCV003683099]uncertain significance68752026187520261Humanname
402496755CV2988604single nucleotide variantNM_020320.5(RARS2):c.771+18C>Gnot provided [RCV003714258]likely benign68753076687530766Humanname
402478870CV2990308duplicationNM_020320.5(RARS2):c.878+17dupnot provided [RCV003686382]likely benign68752952487529525Humanname
405016649CV2991659single nucleotide variantNM_020320.5(RARS2):c.975-15G>Anot provided [RCV003694464]likely benign68752153987521539Humanname
404996570CV2992566single nucleotide variantNM_020320.5(RARS2):c.395+14C>Gnot provided [RCV003692759]likely benign68755539487555394Humanname
402497129CV3006015single nucleotide variantNM_020320.5(RARS2):c.772-16T>Cnot provided [RCV003688121]likely benign68752966487529664Humanname
405032976CV3009253single nucleotide variantNM_020320.5(RARS2):c.395+12C>Tnot provided [RCV003695711]likely benign68755539687555396Humanname
404978603CV3012269deletionNM_020320.5(RARS2):c.1650+1delnot provided [RCV003690756]pathogenic68751495687514956Humanname
402524526CV3015108single nucleotide variantNM_020320.5(RARS2):c.111-15G>Cnot provided [RCV003690543]likely benign68756424787564247Humanname
405161105CV3021456single nucleotide variantNM_020320.5(RARS2):c.213+14A>Cnot provided [RCV003703908]likely benign68756411687564116Humanname
405161977CV3021667single nucleotide variantNM_020320.5(RARS2):c.396-16C>Tnot provided [RCV003704028]likely benign68754866287548662Humanname
405060994CV3029970deletionNM_020320.5(RARS2):c.297+18delnot provided [RCV003697659]likely benign68756268487562684Humanname
405118340CV3030448duplicationNM_020320.5(RARS2):c.110+13dupnot provided [RCV003700481]likely benign68756950387569504Humanname
405183699CV3032015single nucleotide variantNM_020320.5(RARS2):c.1650+9T>Cnot provided [RCV003705799]likely benign68751494887514948Humanname
402486927CV3034029deletionNM_020320.5(RARS2):c.879-12delnot provided [RCV003713389]benign68752466487524664Humanname
402500991CV3035233single nucleotide variantNM_002887.4(RARS1):c.1058-5C>Gnot provided [RCV003714640]likely benign5168506016168506016Humanname
405156331CV3037392single nucleotide variantNM_020320.5(RARS2):c.974+14G>Cnot provided [RCV003703645]likely benign68752454387524543Humanname
405195371CV3037555single nucleotide variantNM_020320.5(RARS2):c.1306-4T>Gnot provided [RCV003706856]likely benign68751874387518743Humanname
405242439CV3042803single nucleotide variantNM_020320.5(RARS2):c.878+16T>Cnot provided [RCV003719491]likely benign68752952687529526Humanname
405252968CV3044142single nucleotide variantNM_020320.5(RARS2):c.396-12T>Anot provided [RCV003722369]likely benign68754865887548658Humanname
405132282CV3051265single nucleotide variantNM_020320.5(RARS2):c.298-13C>Gnot provided [RCV003724933]likely benign68755551887555518Humanname
405250788CV3053134single nucleotide variantNM_020320.5(RARS2):c.396-13A>Gnot provided [RCV003721718]likely benign68754865987548659Humanname
405180547CV3060359single nucleotide variantNM_020320.5(RARS2):c.536-17A>Gnot provided [RCV003728612]likely benign68754201187542011Humanname
405158277CV3061554single nucleotide variantNM_020320.5(RARS2):c.213+18T>Cnot provided [RCV003726914]likely benign68756411287564112Humanname
405209598CV3062092single nucleotide variantNM_020320.5(RARS2):c.451+12G>Anot provided [RCV003731805]likely benign68754857987548579Humanname
405212353CV3063043single nucleotide variantNM_020320.5(RARS2):c.974+18G>Anot provided [RCV003732105]likely benign68752453987524539Humanname
405043336CV3064170single nucleotide variantNM_020320.5(RARS2):c.613-18G>Anot provided [RCV003740002]likely benign68753096087530960Humanname
405190132CV3069244single nucleotide variantNM_020320.5(RARS2):c.110+18T>Cnot provided [RCV003729539]likely benign68756949987569499Humanname
405241624CV3070379single nucleotide variantNM_020320.5(RARS2):c.297+15A>Gnot provided [RCV003737401]likely benign68756268787562687Humanname
405031826CV3077700single nucleotide variantNM_020320.5(RARS2):c.772-11A>Cnot provided [RCV003739206]likely benign68752965987529659Humanname
405235815CV3079367single nucleotide variantNM_020320.5(RARS2):c.213+19C>Tnot provided [RCV003735810]likely benign68756411187564111Humanname
405236956CV3080656single nucleotide variantNM_020320.5(RARS2):c.975-13C>Tnot provided [RCV003736064]likely benign68752153787521537Humanname
11648124CV308982single nucleotide variantNM_020320.5(RARS2):c.1511+3A>GPontocerebellar hypoplasia type 6 [RCV000280406]uncertain significance68751816687518166Human1name
11660703CV308999single nucleotide variantNM_020320.5(RARS2):c.1036-9C>TPontocerebellar hypoplasia type 6 [RCV000369663]|not provided [RCV003565414]likely benign|uncertain significance68752026587520265Human1name
405136339CV3115737single nucleotide variantNM_020320.5(RARS2):c.772-20T>Cnot provided [RCV003816394]likely benign68752966887529668Humanname
404983831CV3121570single nucleotide variantNM_020320.5(RARS2):c.395+13C>Anot provided [RCV003826369]likely benign68755539587555395Humanname
405167735CV3122270single nucleotide variantNM_020320.5(RARS2):c.879-17C>Anot provided [RCV003818859]likely benign68752466987524669Humanname
405135876CV3130581single nucleotide variantNM_020320.5(RARS2):c.395+11A>Tnot provided [RCV003838814]likely benign68755539787555397Humanname
405141591CV3131257single nucleotide variantNM_020320.5(RARS2):c.771+11A>Gnot provided [RCV003839297]likely benign68753077387530773Humanname
405107081CV3136227deletionNM_020320.5(RARS2):c.110+19delnot provided [RCV003835573]likely benign68756949887569498Humanname
405105552CV3139908single nucleotide variantNM_020320.5(RARS2):c.111-14A>Gnot provided [RCV003835319]likely benign68756424687564246Humanname
405068946CV3145231single nucleotide variantNM_020320.5(RARS2):c.771+14C>Tnot provided [RCV003850816]likely benign68753077087530770Humanname
405165582CV3149388single nucleotide variantNM_020320.5(RARS2):c.878+17A>Cnot provided [RCV003841050]likely benign68752952587529525Humanname
405192711CV3149798single nucleotide variantNM_002887.4(RARS1):c.580-20T>Anot provided [RCV003843524]likely benign5168495295168495295Humanname
405175074CV3152224single nucleotide variantNM_020320.5(RARS2):c.213+19C>Gnot provided [RCV003858179]likely benign68756411187564111Humanname
405151374CV3162936single nucleotide variantNM_020320.5(RARS2):c.536-19T>Cnot provided [RCV003856379]likely benign68754201387542013Humanname
405134298CV3163969single nucleotide variantNM_020320.5(RARS2):c.536-12T>Cnot provided [RCV003854957]likely benign68754200687542006Humanname
405234434CV3168423single nucleotide variantNM_020320.5(RARS2):c.214-14T>Cnot provided [RCV003865897]likely benign68756279987562799Humanname
405255608CV3172589single nucleotide variantNM_020320.5(RARS2):c.612+11A>Gnot provided [RCV003872527]likely benign68754190787541907Humanname
405254410CV3175117single nucleotide variantNM_020320.5(RARS2):c.451+19A>Gnot provided [RCV003871569]likely benign68754857287548572Humanname
404990543CV3176228single nucleotide variantNM_020320.5(RARS2):c.879-11C>Tnot provided [RCV003881553]likely benign68752466387524663Humanname
402510762CV3178327single nucleotide variantNM_020320.5(RARS2):c.771+11A>Cnot provided [RCV003878944]likely benign68753077387530773Humanname
405229357CV3180425single nucleotide variantNM_020320.5(RARS2):c.214-15A>Tnot provided [RCV003864846]likely benign68756280087562800Humanname
405249713CV3180522single nucleotide variantNM_020320.5(RARS2):c.452-19A>Gnot provided [RCV003869799]likely benign68754571887545718Humanname
405659459CV3312216single nucleotide variantNM_002887.4(RARS1):c.1453-5C>TInborn genetic diseases [RCV004438536]uncertain significance5168516773168516773Human1name
405871159CV3399261single nucleotide variantNM_020320.5(RARS2):c.1416-1G>CPontocerebellar hypoplasia type 6 [RCV004574692]likely pathogenic68751826587518265Human1name
405871160CV3399262single nucleotide variantNM_020320.5(RARS2):c.1651-2A>GPontocerebellar hypoplasia type 6 [RCV004574693]pathogenic68751450187514501Human1name
12847453CV368092single nucleotide variantNM_002887.4(RARS1):c.823-20T>Anot provided [RCV001523102]|not specified [RCV000443508]benign5168500571168500571Humanname
12847448CV368096single nucleotide variantNM_002887.4(RARS1):c.1626-5T>Cnot specified [RCV000443496]likely benign5168517810168517810Humanname
12845319CV368369single nucleotide variantNM_002887.4(RARS1):c.701+20G>Anot provided [RCV002230254]|not specified [RCV000439602]benign|likely benign5168495456168495456Humanname
12834274CV369098single nucleotide variantNM_020320.5(RARS2):c.395+14C>Tnot provided [RCV003558381]|not specified [RCV000420079]likely benign68755539487555394Humanname
12841307CV369329single nucleotide variantNM_020320.5(RARS2):c.879-10G>Anot provided [RCV000885447]likely benign68752466287524662Humanname
597685903CV3718694single nucleotide variantNM_020320.5(RARS2):c.1586+3A>TPontocerebellar hypoplasia type 6 [RCV005045865]likely pathogenic68751680387516803Human1name
597685915CV3718695single nucleotide variantNM_020320.5(RARS2):c.1586+1G>TPontocerebellar hypoplasia type 6 [RCV005045866]|not provided [RCV005105277]likely pathogenic68751680587516805Human1name
597685952CV3718699single nucleotide variantNM_020320.5(RARS2):c.1415+1G>TPontocerebellar hypoplasia type 6 [RCV005045870]likely pathogenic68751862987518629Human1name
597845697CV3736321single nucleotide variantNM_020320.5(RARS2):c.878+12T>Cnot provided [RCV005065669]likely benign68752953087529530Humanname
597949905CV3746045single nucleotide variantNM_020320.5(RARS2):c.297+11G>Anot provided [RCV005079229]likely benign68756269187562691Humanname
597961362CV3753230single nucleotide variantNM_020320.5(RARS2):c.111-12G>Anot provided [RCV005081730]likely benign68756424487564244Humanname
597963878CV3754223single nucleotide variantNM_002887.4(RARS1):c.701+19C>Anot provided [RCV005082330]likely benign5168495455168495455Humanname
597953978CV3757124single nucleotide variantNM_020320.5(RARS2):c.974+10C>Gnot provided [RCV005079985]likely benign68752454787524547Humanname
597926962CV3819811single nucleotide variantNM_020320.5(RARS2):c.1512-2A>Cnot provided [RCV005156511]likely pathogenic68751688287516882Humanname
597970849CV3832649single nucleotide variantNM_002887.4(RARS1):c.952+13G>Tnot provided [RCV005166728]likely benign5168500733168500733Humanname
597930719CV3837610single nucleotide variantNM_020320.5(RARS2):c.451+12G>Cnot provided [RCV005185770]likely benign68754857987548579Humanname
13508834CV481454single nucleotide variantNM_020320.5(RARS2):c.1237+1G>APontocerebellar hypoplasia type 6 [RCV000578404]pathogenic68751958287519582Human1name
13539621CV501273single nucleotide variantNM_002887.4(RARS1):c.822+15C>Tnot provided [RCV002233004]|not specified [RCV000613529]benign|likely benign5168497363168497363Humanname
13527300CV502118single nucleotide variantNM_020320.5(RARS2):c.111-15G>Anot provided [RCV003558460]|not specified [RCV000605123]likely benign68756424787564247Humanname
14689513CV621039single nucleotide variantNM_020320.5(RARS2):c.1650+5G>ACongenital cerebellar hypoplasia [RCV001258002]|Pontocerebellar hypoplasia type 6 [RCV000779648]|not provided [RCV003319421]|not specified [RCV003230590]likely pathogenic|uncertain significance68751495287514952Human3name
14725474CV661123single nucleotide variantNM_002887.4(RARS1):c.46-251C>Tnot provided [RCV000833455]benign5168488351168488351Humanname
14742640CV661250single nucleotide variantNM_002887.4(RARS1):c.823-12A>Gnot provided [RCV000841532]likely benign5168500579168500579Humanname
14731665CV662015single nucleotide variantNM_020320.5(RARS2):c.974+90T>CPontocerebellar hypoplasia type 6 [RCV001543855]|not provided [RCV000836236]benign68752446787524467Human1name
14724503CV662402single nucleotide variantNM_020320.5(RARS2):c.535+60T>CPontocerebellar hypoplasia type 6 [RCV001543857]|not provided [RCV000833014]likely benign68754555687545556Human1name
14719467CV662404single nucleotide variantNM_020320.5(RARS2):c.452-21A>GPontocerebellar hypoplasia type 6 [RCV001543856]|not provided [RCV000830791]benign68754572087545720Human1name
14723929CV662430single nucleotide variantNM_020320.5(RARS2):c.975-43G>APontocerebellar hypoplasia type 6 [RCV001543854]|not provided [RCV000832756]benign68752156787521567Human1name
14709857CV662435single nucleotide variantNM_020320.5(RARS2):c.878+94C>Tnot provided [RCV000827535]likely benign68752944887529448Humanname
15117526CV695333single nucleotide variantNM_020320.5(RARS2):c.1512-6T>CInborn genetic diseases [RCV002539170]|Pontocerebellar hypoplasia type 6 [RCV001830917]|not provided [RCV000873516]likely benign|uncertain significance68751688687516886Human2name
15113098CV695334single nucleotide variantNM_020320.5(RARS2):c.613-10G>Tnot provided [RCV000872665]likely benign68753095287530952Humanname
15166847CV730352single nucleotide variantNM_002887.4(RARS1):c.1873+9C>Tnot provided [RCV000882722]likely benign5168518071168518071Humanname
15188907CV730441single nucleotide variantNM_020320.5(RARS2):c.1306-7G>Anot provided [RCV000887673]likely benign68751874687518746Humanname
15174545CV744134single nucleotide variantNM_002887.4(RARS1):c.181-10T>Anot provided [RCV000905989]likely benign5168492649168492649Humanname
15117747CV759506single nucleotide variantNM_020320.5(RARS2):c.1512-4T>CPontocerebellar hypoplasia type 6 [RCV001273124]|not provided [RCV000917851]likely benign|conflicting interpretations of pathogenicity|uncertain significance68751688487516884Human1name
15200700CV759674single nucleotide variantNM_020320.5(RARS2):c.1306-8C>TPontocerebellar hypoplasia type 6 [RCV001160818]|RARS2-related disorder [RCV003950771]|not provided [RCV000912920]likely benign|uncertain significance68751874787518747Human1name , alternate_id
15124868CV775227single nucleotide variantNM_020320.5(RARS2):c.772-10A>Tnot provided [RCV000941111]likely benign68752965887529658Humanname
28885686CV859413single nucleotide variantNM_002887.4(RARS1):c.1452+1G>Anot provided [RCV001091692]pathogenic|likely pathogenic5168510687168510687Humanname
28868353CV900277single nucleotide variantNM_020320.5(RARS2):c.879-13T>CPontocerebellar hypoplasia type 6 [RCV001162443]uncertain significance68752466587524665Human1name
38463421CV920230single nucleotide variantNM_020320.5(RARS2):c.1305+1G>APontocerebellar hypoplasia type 6 [RCV001199065]pathogenic68751882387518823Human1name
127238356CV1074102single nucleotide variantNM_020320.5(RARS2):c.1035+10C>TRARS2-related disorder [RCV003963317]|not provided [RCV001415087]likely benign68752145487521454Human1name , alternate_id
127299540CV1154994single nucleotide variantNM_002887.4(RARS1):c.1453-15T>Gnot provided [RCV001513737]benign5168516763168516763Humanname
150339361CV1167354duplicationNM_002887.4(RARS1):c.1237-43dupHypomyelinating leukodystrophy 9 [RCV001796592]|not provided [RCV001534178]benign5168506668168506669Human1name
150340142CV1168097single nucleotide variantNM_020320.5(RARS2):c.1651-31A>Gnot provided [RCV001535033]likely benign68751453087514530Humanname
150409152CV1175148single nucleotide variantNM_020320.5(RARS2):c.451+140G>APontocerebellar hypoplasia type 6 [RCV001543858]|not provided [RCV001676041]benign68754845187548451Human1name
150408433CV1176599single nucleotide variantNM_002887.4(RARS1):c.370-120T>Anot provided [RCV001545888]likely benign5168493774168493774Humanname
150405543CV1176828duplicationNM_020320.5(RARS2):c.1237+36dupnot provided [RCV001544908]likely benign68751954687519547Humanname
150411220CV1176829single nucleotide variantNM_020320.5(RARS2):c.452-299G>Anot provided [RCV001547047]likely benign68754599887545998Humanname
150421644CV1180237single nucleotide variantNM_020320.5(RARS2):c.1238-43C>Tnot provided [RCV001552112]likely benign68751893487518934Humanname
150422813CV1180238single nucleotide variantNM_020320.5(RARS2):c.975-212C>Gnot provided [RCV001553156]likely benign68752173687521736Humanname
150416171CV1180241single nucleotide variantNM_020320.5(RARS2):c.111-118A>Gnot provided [RCV001549472]likely benign68756435087564350Humanname
150425169CV1183619single nucleotide variantNM_002887.4(RARS1):c.952+218A>Tnot provided [RCV001557649]likely benign5168500938168500938Humanname
150426792CV1186903single nucleotide variantNM_002887.4(RARS1):c.1346+14A>Gnot provided [RCV001560028]benign|likely benign5168506845168506845Humanname
150429338CV1187145single nucleotide variantNM_020320.5(RARS2):c.111-195T>Gnot provided [RCV001563468]likely benign68756442787564427Humanname
150410882CV1190341single nucleotide variantNM_002887.4(RARS1):c.822+139C>Tnot provided [RCV001566281]likely benign5168497487168497487Humanname
150418310CV1193579single nucleotide variantNM_002887.4(RARS1):c.180+175G>Anot provided [RCV001569158]likely benign5168488911168488911Humanname
150421548CV1193841single nucleotide variantNM_020320.5(RARS2):c.396-105A>Gnot provided [RCV001570590]likely benign68754875187548751Humanname
150421972CV1197354single nucleotide variantNM_002887.4(RARS1):c.181-136G>Anot provided [RCV001578253]likely benign5168492523168492523Humanname
150412782CV1197595single nucleotide variantNM_020320.5(RARS2):c.536-105A>Gnot provided [RCV001574434]likely benign68754209987542099Humanname
150465644CV1201110single nucleotide variantNM_002887.4(RARS1):c.580-247T>Cnot provided [RCV001587590]likely benign5168495068168495068Humanname
150437869CV1201323duplicationNM_020320.5(RARS2):c.975-178dupnot provided [RCV001583135]likely benign68752169787521698Humanname
150430866CV1204034single nucleotide variantNM_020320.5(RARS2):c.1651-87G>Anot provided [RCV001580809]likely benign68751458687514586Humanname
150451726CV1205430single nucleotide variantNM_002887.4(RARS1):c.181-193C>Anot provided [RCV001585330]likely benign5168492466168492466Humanname
150463514CV1206743deletionNM_002887.4(RARS1):c.1237-43delnot provided [RCV001587144]likely benign5168506669168506669Humanname
150508818CV1214141single nucleotide variantNM_020320.5(RARS2):c.214-122G>Anot provided [RCV001596662]likely benign68756290787562907Humanname
150446207CV1215623single nucleotide variantNM_020320.5(RARS2):c.879-173G>Anot provided [RCV001611216]benign68752482587524825Humanname
150457518CV1219626deletionNM_002887.4(RARS1):c.580-299delnot provided [RCV001612842]benign5168495003168495003Humanname
150486283CV1225719single nucleotide variantNM_020320.5(RARS2):c.975-201T>Cnot provided [RCV001617880]benign68752172587521725Humanname
150486594CV1225767single nucleotide variantNM_002887.4(RARS1):c.579+146G>Anot provided [RCV001617928]benign5168494796168494796Humanname
150508137CV1229564deletionNM_002887.4(RARS1):c.369+170delnot provided [RCV001636142]benign5168493012168493012Humanname
150445390CV1233170single nucleotide variantNM_002887.4(RARS1):c.370-273G>Anot provided [RCV001645843]benign5168493621168493621Humanname
150501953CV1241089single nucleotide variantNM_020320.5(RARS2):c.612+199C>Tnot provided [RCV001656985]benign68754171987541719Humanname
150445020CV1249505single nucleotide variantNM_020320.5(RARS2):c.771+300T>Gnot provided [RCV001666938]benign68753048487530484Humanname
150485322CV1250204single nucleotide variantNM_020320.5(RARS2):c.396-288G>Tnot provided [RCV001673817]benign68754893487548934Humanname
150475659CV1251748deletionNM_020320.5(RARS2):c.535+130delnot provided [RCV001671946]benign68754548687545486Humanname
150477494CV1252022single nucleotide variantNM_002887.4(RARS1):c.1873+77G>Anot provided [RCV001672221]benign5168518139168518139Humanname
150463548CV1253819duplicationNM_002887.4(RARS1):c.370-240dupnot provided [RCV001669861]benign5168493633168493634Humanname
150441981CV1264359single nucleotide variantNM_002887.4(RARS1):c.701+192T>Gnot provided [RCV001679342]benign5168495628168495628Humanname
150443086CV1264542duplicationNM_002887.4(RARS1):c.1625+83dupnot provided [RCV001679526]benign5168517020168517021Humanname
150462621CV1273036single nucleotide variantNM_020320.5(RARS2):c.111-303C>Anot provided [RCV001693793]benign68756453587564535Humanname
150455599CV1278378duplicationNM_002887.4(RARS1):c.580-299dupnot provided [RCV001708993]benign5168495002168495003Humanname
150474181CV1281724deletionNM_002887.4(RARS1):c.822+184delnot provided [RCV001713652]benign5168497523168497523Humanname
150498377CV1281974single nucleotide variantNM_002887.4(RARS1):c.181-116G>Anot provided [RCV001718009]benign5168492543168492543Humanname
150478511CV1281975single nucleotide variantNM_002887.4(RARS1):c.701+137C>Tnot provided [RCV001714307]benign5168495573168495573Humanname
150493455CV1281976single nucleotide variantNM_002887.4(RARS1):c.702-110T>Cnot provided [RCV001717013]benign5168497118168497118Humanname
150487820CV1283900deletionNM_020320.5(RARS2):c.772-251delnot provided [RCV001716011]benign68752989987529899Humanname
150514597CV1285256single nucleotide variantNM_020320.5(RARS2):c.536-157A>Tnot provided [RCV001722709]benign68754215187542151Humanname
150521118CV1290854single nucleotide variantNM_020320.5(RARS2):c.535+129T>Cnot provided [RCV001732498]benign68754548787545487Humanname
150539124CV1299847single nucleotide variantNM_020320.5(RARS2):c.1651-12T>Gnot provided [RCV001765316]uncertain significance68751451187514511Humanname
152139165CV1562774single nucleotide variantNM_020320.5(RARS2):c.1587-10C>Tnot provided [RCV002100530]likely benign68751503087515030Humanname
152058713CV1597261single nucleotide variantNM_020320.5(RARS2):c.1651-16T>Anot provided [RCV002128089]likely benign68751451587514515Humanname
152095247CV1603914single nucleotide variantNM_020320.5(RARS2):c.1415+10G>Cnot provided [RCV002213272]likely benign68751862087518620Humanname
152983702CV1672329single nucleotide variantNM_002887.4(RARS1):c.1058-16G>Anot provided [RCV002238055]likely benign5168506005168506005Humanname
152983707CV1672334single nucleotide variantNM_002887.4(RARS1):c.1236+20T>Cnot provided [RCV002238060]benign5168506219168506219Humanname
152983709CV1672336single nucleotide variantNM_002887.4(RARS1):c.1347-20G>Cnot provided [RCV002238062]likely benign5168510561168510561Humanname
152978294CV1672352deletionNM_002887.4(RARS1):c.1873+33delnot provided [RCV002236529]benign5168518072168518072Humanname
156284721CV1884734single nucleotide variantNM_020320.5(RARS2):c.1112+12A>Cnot provided [RCV003061199]likely benign68752016887520168Humanname
156374055CV1902003single nucleotide variantNM_020320.5(RARS2):c.1112+12A>Gnot provided [RCV003092709]likely benign68752016887520168Humanname
156412539CV1968719single nucleotide variantNM_002887.4(RARS1):c.1237-13G>Anot provided [RCV002608572]likely benign5168506709168506709Humanname
156416942CV1970119single nucleotide variantNM_020320.5(RARS2):c.1036-16A>Gnot provided [RCV002589956]likely benign68752027287520272Humanname
156194519CV1994828deletionNM_020320.5(RARS2):c.1587-18delnot provided [RCV002643419]likely benign68751503887515038Humanname
156308805CV1999965single nucleotide variantNM_020320.5(RARS2):c.1035+11A>Gnot provided [RCV002671515]likely benign68752145387521453Humanname
156023442CV2040833single nucleotide variantNM_020320.5(RARS2):c.1415+18G>Anot provided [RCV002795695]likely benign68751861287518612Humanname
156322966CV2166874single nucleotide variantNM_020320.5(RARS2):c.1512-10C>Tnot provided [RCV003029300]likely benign68751689087516890Humanname
156325478CV2184277single nucleotide variantNM_020320.5(RARS2):c.1306-11T>Anot provided [RCV003046908]uncertain significance68751875087518750Humanname
243059800CV2413688single nucleotide variantNM_002887.4(RARS1):c.1452+12C>AHypomyelinating leukodystrophy 9 [RCV003135209]likely benign|uncertain significance5168510698168510698Human1name
11551506CV252541single nucleotide variantNM_020320.5(RARS2):c.1305+18C>TPontocerebellar hypoplasia type 6 [RCV001543852]|not provided [RCV001636810]|not specified [RCV000253136]benign68751880687518806Human1name
405016499CV2855784deletionNM_020320.5(RARS2):c.1587-17delnot provided [RCV003577180]likely benign68751503787515037Humanname
405165538CV2905898duplicationNM_020320.5(RARS2):c.1113-11dupnot provided [RCV003562711]likely benign68751971787519718Humanname
402497204CV2906014single nucleotide variantNM_020320.5(RARS2):c.1112+11C>Gnot provided [RCV003573623]likely benign68752016987520169Humanname
402479652CV2909954single nucleotide variantNM_020320.5(RARS2):c.1113-10A>Gnot provided [RCV003571819]likely benign68751971787519717Humanname
405170062CV2911726single nucleotide variantNM_020320.5(RARS2):c.1512-18G>Anot provided [RCV003562972]likely benign68751689887516898Humanname
405213061CV2918261single nucleotide variantNM_020320.5(RARS2):c.1511+18G>Anot provided [RCV003567409]likely benign68751815187518151Humanname
402485090CV2931547single nucleotide variantNM_020320.5(RARS2):c.1306-12C>Gnot provided [RCV003572451]likely benign68751875187518751Humanname
402504363CV2947456single nucleotide variantNM_020320.5(RARS2):c.1113-14G>Tnot provided [RCV003661921]likely benign68751972187519721Humanname
405153290CV2950610single nucleotide variantNM_020320.5(RARS2):c.1305+17A>Cnot provided [RCV003670203]likely benign68751880787518807Humanname
405163834CV2960583single nucleotide variantNM_020320.5(RARS2):c.1587-12T>Cnot provided [RCV003674880]likely benign68751503287515032Humanname
405212605CV2974406single nucleotide variantNM_020320.5(RARS2):c.1305+14C>Tnot provided [RCV003679526]likely benign68751881087518810Humanname
402494479CV2982145single nucleotide variantNM_020320.5(RARS2):c.1415+17G>Cnot provided [RCV003714049]likely benign68751861387518613Humanname
404983861CV2986543single nucleotide variantNM_020320.5(RARS2):c.1415+12C>Gnot provided [RCV003691595]likely benign68751861887518618Humanname
405249024CV2987128single nucleotide variantNM_020320.5(RARS2):c.1035+18A>Tnot provided [RCV003686035]likely benign68752144687521446Humanname
404991437CV2999334single nucleotide variantNM_020320.5(RARS2):c.1306-18T>Cnot provided [RCV003692320]likely benign68751875787518757Humanname
404987092CV3001449single nucleotide variantNM_020320.5(RARS2):c.1416-18C>Tnot provided [RCV003691826]likely benign68751828287518282Humanname
405121775CV3004145single nucleotide variantNM_020320.5(RARS2):c.1651-19T>Gnot provided [RCV003723966]likely benign68751451887514518Humanname
405005882CV3009924single nucleotide variantNM_020320.5(RARS2):c.1512-14C>Gnot provided [RCV003693515]likely benign68751689487516894Humanname
404978266CV3012206single nucleotide variantNM_020320.5(RARS2):c.1511+18G>Cnot provided [RCV003690721]likely benign68751815187518151Humanname
405158673CV3014423single nucleotide variantNM_020320.5(RARS2):c.1112+16T>Cnot provided [RCV003703731]likely benign68752016487520164Humanname
405177364CV3049618single nucleotide variantNM_020320.5(RARS2):c.1586+11A>Gnot provided [RCV003728460]likely benign68751679587516795Humanname
405252150CV3050835single nucleotide variantNM_020320.5(RARS2):c.1415+16A>Cnot provided [RCV003722092]likely benign68751861487518614Humanname
405244116CV3054147single nucleotide variantNM_020320.5(RARS2):c.1113-16A>Cnot provided [RCV003719902]likely benign68751972387519723Humanname
405254435CV3055360single nucleotide variantNM_020320.5(RARS2):c.1238-19C>Anot provided [RCV003723010]likely benign68751891087518910Humanname
405180713CV3057192single nucleotide variantNM_020320.5(RARS2):c.1238-20G>Anot provided [RCV003728745]likely benign68751891187518911Humanname
405241376CV3060986single nucleotide variantNM_020320.5(RARS2):c.1305+17A>Gnot provided [RCV003737250]likely benign68751880787518807Humanname
405161916CV3062511single nucleotide variantNM_020320.5(RARS2):c.1036-18A>Gnot provided [RCV003727097]likely benign68752027487520274Humanname
405205916CV3068280single nucleotide variantNM_020320.5(RARS2):c.1305+12C>Tnot provided [RCV003731307]likely benign68751881287518812Humanname
405226744CV3069377single nucleotide variantNM_020320.5(RARS2):c.1512-19T>Cnot provided [RCV003734183]likely benign68751689987516899Humanname
405025287CV3073279single nucleotide variantNM_020320.5(RARS2):c.1305+19C>Tnot provided [RCV003738736]likely benign68751880587518805Humanname
405242991CV3074589single nucleotide variantNM_020320.5(RARS2):c.1035+11A>Cnot provided [RCV003737696]likely benign68752145387521453Humanname
405025981CV3079229single nucleotide variantNM_020320.5(RARS2):c.1036-14A>Gnot provided [RCV003738789]likely benign68752027087520270Humanname
405134331CV3115569single nucleotide variantNM_020320.5(RARS2):c.1237+19T>Cnot provided [RCV003816226]likely benign68751956487519564Humanname
405136277CV3115732single nucleotide variantNM_020320.5(RARS2):c.1587-20T>Cnot provided [RCV003816389]likely benign68751504087515040Humanname
405213239CV3127609deletionNM_020320.5(RARS2):c.1512-14delnot provided [RCV003823657]likely benign68751689487516894Humanname
404989340CV3131822single nucleotide variantNM_020320.5(RARS2):c.1238-17G>Tnot provided [RCV003826950]likely benign68751890887518908Humanname
405050018CV3138000duplicationNM_020320.5(RARS2):c.1586+11dupnot provided [RCV003832038]likely benign68751679487516795Humanname
405068053CV3140138single nucleotide variantNM_020320.5(RARS2):c.1651-12T>Cnot provided [RCV003833293]likely benign68751451187514511Humanname
405045085CV3141594single nucleotide variantNM_020320.5(RARS2):c.1415+20A>Gnot provided [RCV003831695]likely benign68751861087518610Humanname
405225192CV3142316single nucleotide variantNM_020320.5(RARS2):c.1113-19T>Cnot provided [RCV003847855]likely benign68751972687519726Humanname
405228188CV3143015single nucleotide variantNM_020320.5(RARS2):c.1586+16C>Tnot provided [RCV003848358]likely benign68751679087516790Humanname
405230319CV3153859single nucleotide variantNM_020320.5(RARS2):c.1035+16A>Cnot provided [RCV003848727]likely benign68752144887521448Humanname
405246171CV3162244single nucleotide variantNM_020320.5(RARS2):c.1512-13T>Cnot provided [RCV003868763]likely benign68751689387516893Humanname
402470070CV3171057single nucleotide variantNM_020320.5(RARS2):c.1512-15C>Tnot provided [RCV003874020]likely benign68751689587516895Humanname
402468096CV3174251single nucleotide variantNM_020320.5(RARS2):c.1650+13G>Cnot provided [RCV003873534]likely benign68751494487514944Humanname
405250719CV3180823single nucleotide variantNM_020320.5(RARS2):c.1415+16A>Gnot provided [RCV003870101]likely benign68751861487518614Humanname
402503836CV3181411single nucleotide variantNM_020320.5(RARS2):c.1306-11T>Cnot provided [RCV003878245]likely benign68751875087518750Humanname
402489451CV3181983single nucleotide variantNM_020320.5(RARS2):c.1113-21A>Cnot provided [RCV003876652]likely pathogenic68751972887519728Humanname
12741098CV359789single nucleotide variantNM_020320.5(RARS2):c.1305+20T>Cnot specified [RCV000414081]uncertain significance68751880487518804Humanname
12835762CV368099single nucleotide variantNM_002887.4(RARS1):c.1874-10A>Gnot provided [RCV001513711]|not specified [RCV000422247]benign5168519071168519071Humanname
12835868CV368371single nucleotide variantNM_002887.4(RARS1):c.1236+17G>Anot provided [RCV002230248]|not specified [RCV000422419]benign|likely benign5168506216168506216Humanname
12844843CV369761single nucleotide variantNM_002887.4(RARS1):c.1236+11A>Gnot provided [RCV001515838]|not specified [RCV000438722]benign5168506210168506210Humanname
597921877CV3738436single nucleotide variantNM_020320.5(RARS2):c.1586+19G>Anot provided [RCV005074843]likely benign68751678787516787Humanname
597938481CV3775101duplicationNM_020320.5(RARS2):c.1237+16dupnot provided [RCV005117927]benign68751956687519567Humanname
597887324CV3804280single nucleotide variantNM_020320.5(RARS2):c.1415+14G>Tnot provided [RCV005150731]likely benign68751861687518616Humanname
597898215CV3826599single nucleotide variantNM_002887.4(RARS1):c.1236+19A>Gnot provided [RCV005180732]likely benign5168506218168506218Humanname
13525351CV500763single nucleotide variantNM_002887.4(RARS1):c.1453-17T>GHypomyelinating leukodystrophy 9 [RCV002491247]|not provided [RCV002232570]|not specified [RCV000603039]benign|likely benign5168516761168516761Human1name
14713100CV660821single nucleotide variantNM_002887.4(RARS1):c.370-302C>Gnot provided [RCV000828621]benign5168493592168493592Humanname
14713103CV660823single nucleotide variantNM_002887.4(RARS1):c.370-174G>Tnot provided [RCV000828622]benign5168493720168493720Humanname
14713119CV661068single nucleotide variantNM_002887.4(RARS1):c.953-260G>Anot provided [RCV000828626]benign5168501741168501741Humanname
14725475CV661126single nucleotide variantNM_002887.4(RARS1):c.479-201G>Anot provided [RCV000833456]benign5168494349168494349Humanname
14713111CV661131single nucleotide variantNM_002887.4(RARS1):c.580-225A>Gnot provided [RCV000828624]benign5168495090168495090Humanname
14721975CV661241single nucleotide variantNM_002887.4(RARS1):c.369+217A>Gnot provided [RCV000831904]benign5168493064168493064Humanname
14745859CV661245single nucleotide variantNM_002887.4(RARS1):c.479-166A>Gnot provided [RCV000843823]benign5168494384168494384Humanname
14735314CV662028single nucleotide variantNM_020320.5(RARS2):c.396-243C>Gnot provided [RCV000837950]benign68754888987548889Humanname
14741917CV662392single nucleotide variantNM_020320.5(RARS2):c.1587-10C>GPontocerebellar hypoplasia type 6 [RCV001830854]|not provided [RCV000841018]likely benign68751503087515030Human1name
14726206CV662397single nucleotide variantNM_020320.5(RARS2):c.536-115C>Tnot provided [RCV000833768]benign68754210987542109Humanname
14711037CV662416single nucleotide variantNM_020320.5(RARS2):c.110+294C>Tnot provided [RCV000827903]likely benign68756922387569223Humanname
14719505CV662427single nucleotide variantNM_020320.5(RARS2):c.1512-43T>CPontocerebellar hypoplasia type 6 [RCV001543851]|not provided [RCV000830808]benign68751692387516923Human1name
14723932CV662428single nucleotide variantNM_020320.5(RARS2):c.1237+38G>APontocerebellar hypoplasia type 6 [RCV001543853]|not provided [RCV000832757]benign68751954587519545Human1name
15131568CV775259single nucleotide variantNM_020320.5(RARS2):c.1035+10C>Anot provided [RCV000942246]likely benign68752145487521454Humanname
15113381CV787518single nucleotide variantNM_020320.5(RARS2):c.1237+10G>Tnot provided [RCV000978008]likely benign68751957387519573Humanname
127246278CV1055641single nucleotide variantNM_020320.5(RARS2):c.613-3927C>TPontocerebellar hypoplasia type 6 [RCV003469627]|Pontoneocerebellar hypoplasia [RCV003226466]|not provided [RCV001377571]pathogenic|likely pathogenic68753486987534869Human3name
150423825CV1183621single nucleotide variantNM_002887.4(RARS1):c.1452+110A>Cnot provided [RCV001555850]likely benign5168510796168510796Humanname
150429418CV1186904single nucleotide variantNM_002887.4(RARS1):c.1347-164T>Cnot provided [RCV001563575]likely benign5168510417168510417Humanname
150406681CV1190342deletionNM_002887.4(RARS1):c.1057+279delnot provided [RCV001564752]likely benign5168502384168502384Humanname
150415046CV1190565single nucleotide variantNM_020320.5(RARS2):c.1512-253G>Anot provided [RCV001567810]likely benign68751713387517133Humanname
150421965CV1193840single nucleotide variantNM_020320.5(RARS2):c.1035+295T>Cnot provided [RCV001570763]likely benign68752116987521169Humanname
150415003CV1197593single nucleotide variantNM_020320.5(RARS2):c.1416-152C>Anot provided [RCV001575206]likely benign68751841687518416Humanname
150432080CV1200527duplicationNM_020320.5(RARS2):c.1415+143dupnot provided [RCV001581250]likely benign68751847587518476Humanname
150432990CV1203496single nucleotide variantNM_002887.4(RARS1):c.1626-230A>Cnot provided [RCV001581651]likely benign5168517585168517585Humanname
150461745CV1206498deletionNM_002887.4(RARS1):c.1057+277delnot provided [RCV001586899]likely benign5168502382168502382Humanname
150479293CV1207812single nucleotide variantNM_002887.4(RARS1):c.1057+195A>Gnot provided [RCV001590088]likely benign5168502300168502300Humanname
150510876CV1210606duplicationNM_002887.4(RARS1):c.1057+278dupnot provided [RCV001597785]benign5168502382168502383Humanname
150511344CV1212716single nucleotide variantNM_020320.5(RARS2):c.613-4137C>Tnot provided [RCV001597947]benign68753507987535079Humanname
150437573CV1220742duplicationNM_002887.4(RARS1):c.1057+276dupnot provided [RCV001609727]benign5168502380168502381Humanname
150460059CV1231276single nucleotide variantNM_002887.4(RARS1):c.1057+277A>Tnot provided [RCV001640840]benign5168502382168502382Humanname
150453550CV1231841single nucleotide variantNM_002887.4(RARS1):c.1346+117A>Gnot provided [RCV001648148]benign5168506948168506948Humanname
150473368CV1234267single nucleotide variantNM_002887.4(RARS1):c.1626-127C>Tnot provided [RCV001651586]benign5168517688168517688Humanname
150488900CV1237553single nucleotide variantNM_020320.5(RARS2):c.1650+208C>Tnot provided [RCV001654402]benign68751474987514749Humanname
150491799CV1238060single nucleotide variantNM_020320.5(RARS2):c.1650+180A>Gnot provided [RCV001654906]benign68751477787514777Humanname
150502069CV1241128single nucleotide variantNM_002887.4(RARS1):c.1057+281T>Anot provided [RCV001657024]benign5168502386168502386Humanname
150465557CV1252901single nucleotide variantNM_002887.4(RARS1):c.1058-190T>Cnot provided [RCV001670225]benign5168505831168505831Humanname
150462104CV1253325single nucleotide variantNM_020320.5(RARS2):c.1237+169T>Cnot provided [RCV001669654]benign68751941487519414Humanname
150468697CV1259534single nucleotide variantNM_002887.4(RARS1):c.1237-180G>Anot provided [RCV001683834]benign5168506542168506542Humanname
150453255CV1260492single nucleotide variantNM_002887.4(RARS1):c.1625+220T>Cnot provided [RCV001680983]benign5168517170168517170Humanname
150438724CV1264866single nucleotide variantNM_002887.4(RARS1):c.1057+292A>Tnot provided [RCV001678859]benign5168502397168502397Humanname
150460203CV1268460deletionNM_002887.4(RARS1):c.1058-286delnot provided [RCV001693457]benign5168505715168505715Humanname
150455380CV1277785single nucleotide variantNM_020320.5(RARS2):c.1238-293T>Cnot provided [RCV001708962]benign68751918487519184Humanname
150493462CV1281978single nucleotide variantNM_002887.4(RARS1):c.1453-151C>Tnot provided [RCV001717014]benign5168516627168516627Humanname
156022177CV2184634microsatelliteNM_020320.5(RARS2):c.110+13AC[3]not provided [RCV003035784]likely benign68756950087569501Humanname
401915855CV2820548single nucleotide variantNM_020320.5(RARS2):c.1586+893T>Anot provided [RCV003428891]likely benign68751591387515913Humanname
402503446CV2933378deletionNM_020320.5(RARS2):c.37-12_44delnot provided [RCV003574232]likely pathogenic68756958387569602Humanname
405263974CV3185268single nucleotide variantNM_020320.5(RARS2):c.1586+873C>Gnot provided [RCV003885832]likely benign|uncertain significance68751593387515933Humanname
12901564CV406698microsatelliteNM_002887.4(RARS1):c.823-16AT[7]RARS1-related disorder [RCV003962334]|not provided [RCV001704600]benign|likely benign5168500574168500575Humanname , alternate_id
12902456CV406943microsatelliteNM_020320.5(RARS2):c.452-22TA[2]not provided [RCV002526523]|not specified [RCV000487132]benign|likely benign68754571687545717Humanname
14723358CV660827single nucleotide variantNM_002887.4(RARS1):c.1346+235G>Tnot provided [RCV000832499]benign5168507066168507066Humanname
14723361CV660830single nucleotide variantNM_002887.4(RARS1):c.1626-279C>Tnot provided [RCV000832500]benign5168517536168517536Humanname
14713146CV660833single nucleotide variantNM_002887.4(RARS1):c.1626-278C>Tnot provided [RCV000828634]benign5168517537168517537Humanname
14725478CV660834single nucleotide variantNM_002887.4(RARS1):c.1626-259C>Anot provided [RCV000833457]benign5168517556168517556Humanname
14713149CV660836single nucleotide variantNM_002887.4(RARS1):c.1626-255T>Cnot provided [RCV000828635]benign5168517560168517560Humanname
14713128CV661079single nucleotide variantNM_002887.4(RARS1):c.1347-333C>Gnot provided [RCV000828628]benign5168510248168510248Humanname
14713134CV661087single nucleotide variantNM_002887.4(RARS1):c.1347-171G>Anot provided [RCV000828630]benign5168510410168510410Humanname
14713137CV661095single nucleotide variantNM_002887.4(RARS1):c.1452+233G>Anot provided [RCV000828631]benign5168510919168510919Humanname
14713142CV661105single nucleotide variantNM_002887.4(RARS1):c.1625+249G>Anot provided [RCV000828633]benign5168517199168517199Humanname
14713123CV661142single nucleotide variantNM_002887.4(RARS1):c.1236+226A>Gnot provided [RCV000828627]benign5168506425168506425Humanname
14721984CV661157single nucleotide variantNM_002887.4(RARS1):c.1346+161A>Cnot provided [RCV000831908]likely benign5168506992168506992Humanname
14713154CV661164single nucleotide variantNM_002887.4(RARS1):c.1873+162C>Tnot provided [RCV000828636]benign5168518224168518224Humanname
14721980CV661251single nucleotide variantNM_002887.4(RARS1):c.1057+235C>Gnot provided [RCV000831906]likely benign5168502340168502340Humanname
14713141CV661252single nucleotide variantNM_002887.4(RARS1):c.1452+271A>Tnot provided [RCV000828632]benign5168510957168510957Humanname
14726252CV662390single nucleotide variantNM_020320.5(RARS2):c.1036-153T>Anot provided [RCV000833788]likely benign68752040987520409Humanname
14745861CV662396single nucleotide variantNM_020320.5(RARS2):c.613-3988G>Anot provided [RCV000843825]benign68753493087534930Humanname
14733881CV662429single nucleotide variantNM_020320.5(RARS2):c.1036-136T>Cnot provided [RCV000837301]likely benign68752039287520392Humanname
243053670CV2405576deletionNM_020320.5(RARS2):c.610_612+2delPontocerebellar hypoplasia type 6 [RCV003131293]likely pathogenic68754191687541920Human1name
405295261CV3211167duplicationNM_020320.5(RARS2):c.*100_*101dupRARS2-related disorder [RCV003937153]likely benign68751431187514312Humanname , trait , alternate_id
12902294CV406695deletionNM_002887.3(RARS1):c.-57_-32del26not specified [RCV000486761]likely benign5168486429168486454Humanname
150503674CV1257843microsatelliteNM_020320.5(RARS2):c.1238-285TA[7]not provided [RCV001677531]benign68751916487519165Humanname
150420035CV1197355microsatelliteNM_002887.4(RARS1):c.1057+257AT[13]not provided [RCV001577438]likely benign5168502361168502362Humanname
10410180CV211284deletionNM_020320.5(RARS2):c.772-4_772-3delPontocerebellar hypoplasia type 6 [RCV001833151]|not provided [RCV002517255]|not specified [RCV000197657]likely benign|uncertain significance68752965187529652Human1name
405199062CV2901152duplicationNM_002887.4(RARS1):c.1870_1873+4dupnot provided [RCV003565745]uncertain significance5168518058168518059Humanname
405177581CV3049468deletionNM_020320.5(RARS2):c.395+1_395+9delnot provided [RCV003728405]likely pathogenic68755539987555407Humanname
405123743CV3126403deletionNM_020320.5(RARS2):c.36+17_36+39delnot provided [RCV003815155]likely benign68758988387589905Humanname
402518305CV3179113deletionNM_020320.5(RARS2):c.37-15_37-14delnot provided [RCV003879546]likely benign68756960487569605Humanname
597947019CV3771594deletionNM_020320.5(RARS2):c.37-20_37-19delnot provided [RCV005120119]likely benign68756960987569610Humanname
127320919CV1138153deletionNM_020320.5(RARS2):c.1512-9_1512-7delnot provided [RCV001484384]likely benign68751688787516889Humanname
150443045CV1287824microsatelliteNM_002887.4(RARS1):c.45+116_45+117delnot provided [RCV001725545]benign5168486657168486658Humanname
402492034CV3008229deletionNM_020320.5(RARS2):c.1416-8_1416-7delnot provided [RCV003687628]likely benign68751827187518272Humanname
408389343CV3529342deletionNM_020320.5(RARS2):c.111-201_111-8delnot provided [RCV004774164]uncertain significance68756424087564433Humanname
15116828CV787388microsatelliteNM_020320.5(RARS2):c.1511+6_1511+8delnot provided [RCV000978656]likely benign68751816187518163Humanname
150421224CV1180240deletionNM_020320.5(RARS2):c.395+98_395+105delnot provided [RCV001551914]likely benign68755530387555310Humanname
156355061CV2062570deletionNM_020320.5(RARS2):c.1511+8_1511+10delnot provided [RCV002812070]uncertain significance68751815987518161Humanname
405100372CV2937965insertionNM_020320.5(RARS2):c.395+11_395+12insTnot provided [RCV003665734]likely benign68755539687555397Humanname
405242530CV2971036duplicationNM_020320.5(RARS2):c.1586+5_1586+12dupnot provided [RCV003684298]likely benign68751679387516794Humanname
14723927CV662406insertionNM_020320.5(RARS2):c.452-83_452-82insCnot provided [RCV000832755]benign68754578187545782Humanname
150423324CV1183891deletionNM_020320.5(RARS2):c.298-262_298-259delnot provided [RCV001555165]likely benign68755576487555767Humanname
150416897CV1193580duplicationNM_002887.4(RARS1):c.370-244_370-240dupnot provided [RCV001568537]likely benign5168493633168493634Humanname
150488652CV1208289duplicationNM_002887.4(RARS1):c.1237-44_1237-43dupnot provided [RCV001592149]likely benign5168506668168506669Humanname
150434533CV1215913duplicationNM_002887.4(RARS1):c.370-243_370-240dupnot provided [RCV001609101]benign5168493633168493634Humanname
150473045CV1252342duplicationNM_002887.4(RARS1):c.370-241_370-240dupnot provided [RCV001671544]benign5168493633168493634Humanname
152978287CV1672351deletionNM_002887.4(RARS1):c.1873+18_1873+33delnot provided [RCV002236528]likely benign5168518072168518087Humanname
156092240CV1895649duplicationNM_002887.4(RARS1):c.1873+15_1873+33dupnot provided [RCV003080266]likely benign5168518071168518072Humanname
156380773CV1899819deletionNM_002887.4(RARS1):c.1873+21_1873+33delnot provided [RCV003093255]likely benign5168518072168518084Humanname
155943582CV2062027duplicationNM_002887.4(RARS1):c.1873+30_1873+33dupnot provided [RCV002815848]benign5168518071168518072Humanname
156340192CV2092664deletionNM_002887.4(RARS1):c.1873+32_1873+33delnot provided [RCV002900434]benign5168518072168518073Humanname
156102025CV2117245duplicationNM_002887.4(RARS1):c.1873+18_1873+33dupnot provided [RCV002952774]likely benign5168518071168518072Humanname
156041247CV2117753duplicationNM_002887.4(RARS1):c.1873+19_1873+33dupnot provided [RCV002923925]likely benign5168518071168518072Humanname
156038462CV2120201duplicationNM_002887.4(RARS1):c.1873+20_1873+33dupnot provided [RCV002949522]likely benign5168518071168518072Humanname
156374150CV2123927deletionNM_002887.4(RARS1):c.1873+22_1873+33delnot provided [RCV002942569]likely benign5168518072168518083Humanname
402495752CV2875246duplicationNM_002887.4(RARS1):c.1873+16_1873+33dupnot provided [RCV003545404]likely benign5168518071168518072Humanname
402497194CV2906013microsatelliteNM_020320.5(RARS2):c.1036-23_1036-19delnot provided [RCV003573622]likely benign68752027587520279Humanname
405014459CV2994554deletionNM_020320.5(RARS2):c.1305+17_1305+20delnot provided [RCV003694265]likely benign68751880487518807Humanname
405137694CV3019501duplicationNM_002887.4(RARS1):c.1873+23_1873+33dupnot provided [RCV003702239]likely benign5168518071168518072Humanname
597922036CV3808120deletionNM_020320.5(RARS2):c.1416-18_1416-13delnot provided [RCV005155828]likely benign68751827787518282Humanname
13525432CV502115deletionNM_020320.5(RARS2):c.1651-14_1651-10delnot provided [RCV001425773]|not specified [RCV000603160]likely benign68751450987514513Humanname
150406931CV1176600deletionNM_002887.4(RARS1):c.1058-288_1058-286delnot provided [RCV001545422]likely benign5168505715168505717Humanname
150496969CV1219328deletionNM_020320.5(RARS2):c.1238-250_1238-249delnot provided [RCV001619997]benign68751914087519141Humanname
150453788CV1231875deletionNM_002887.4(RARS1):c.1058-287_1058-286delnot provided [RCV001648182]benign5168505715168505716Humanname
150505682CV1255535deletionNM_020320.5(RARS2):c.1238-262_1238-258delnot provided [RCV001677982]benign68751914987519153Humanname
150487098CV1283742deletionNM_002887.4(RARS1):c.1058-290_1058-286delnot provided [RCV001715895]benign5168505715168505719Humanname
243049791CV2417106deletionNM_002887.4(RARS1):c.1625+191_1625+192delnot provided [RCV003151976]likely benign5168517134168517135Humanname
150461952CV1234844insertionNM_002887.4(RARS1):c.1057+280_1057+281insAnot provided [RCV001649426]benign5168502385168502386Humanname
405154425CV2950609insertionNM_020320.5(RARS2):c.1305+18_1305+19insTATnot provided [RCV003670202]likely benign68751880587518806Humanname
405251502CV3050013insertionNM_020320.5(RARS2):c.1306-15_1306-14insAATnot provided [RCV003721924]likely benign68751875387518754Humanname
14723747CV661136insertionNM_002887.4(RARS1):c.953-272_953-271insTATnot provided [RCV000832674]benign5168501727168501728Humanname
150423530CV1183620insertionNM_002887.4(RARS1):c.1057+278_1057+279insTTnot provided [RCV001555449]likely benign5168502382168502383Humanname
150443340CV1232567insertionNM_002887.4(RARS1):c.1057+276_1057+277insTTnot provided [RCV001645535]benign5168502380168502381Humanname
150480538CV1221989insertionNM_002887.4(RARS1):c.1057+276_1057+277insTTTnot provided [RCV001616786]benign5168502380168502381Humanname
150479799CV1239447insertionNM_002887.4(RARS1):c.1057+278_1057+279insTTTnot provided [RCV001652610]benign5168502382168502383Humanname
14745860CV662019insertionNM_020320.5(RARS2):c.613-4111_613-4110insGATAAnot provided [RCV000843824]benign68753505287535053Humanname
156022586CV2128687insertionNM_002887.4(RARS1):c.1873+8_1873+9insTTTTTTTTTTTTTTTnot provided [RCV002948846]likely benign5168518069168518070Humanname
15166844CV730351insertionNM_002887.4(RARS1):c.1873+8_1873+9insTTTTTTTTTTTTTTTTTTTTTTTnot provided [RCV000882721]benign5168518069168518070Humanname
15117205CV744219insertionNM_002887.4(RARS1):c.1873+8_1873+9insTTTTTTTTTTTTTTTTTTTTTTTTTnot provided [RCV000895337]likely benign5168518069168518070Humanname
156362690CV2119601insertionNM_002887.4(RARS1):c.1873+33_1873+34insTTTTTTTTTTTTTTTTTTTTTTTTTTnot provided [RCV002967082]likely benign5168518071168518072Humanname
156371694CV2109938insertionNM_002887.4(RARS1):c.1873+33_1873+34insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTnot provided [RCV002942375]likely benign5168518071168518072Humanname
150493481CV1281991insertionNM_002887.4(RARS1):c.1626-73_1626-72insTGATTTACGTGAATCACTTAGTACATATTTTCnot provided [RCV001717018]benign5168517738168517739Humanname
152978283CV1672350insertionNM_002887.4(RARS1):c.1873+33_1873+34insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTnot provided [RCV002236527]likely benign5168518071168518072Humanname
15146446CV744216insertionNM_002887.4(RARS1):c.1873+8_1873+9insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTnot provided [RCV000900325]benign5168518069168518070Humanname
10398661CV204466single nucleotide variantRARS2, -2A-GPontocerebellar hypoplasia type 6 [RCV000190402]pathogenicHumanname
150414302CV1190567single nucleotide variantNM_020320.5(RARS2):c.28G>A (p.Ala10Thr)Inborn genetic diseases [RCV002569039]|Pontocerebellar hypoplasia type 6 [RCV001832774]|RARS2-related disorder [RCV003931200]|not provided [RCV001567474]uncertain significance68758993087589930Human2name , alternate_id
150412855CV1197353single nucleotide variantNM_002887.4(RARS1):c.82C>T (p.Arg28Trp)RARS1-related disorder [RCV003931215]|not provided [RCV001574454]benign|likely benign5168488638168488638Human1name , alternate_id
150481565CV1244123single nucleotide variantNM_002887.4(RARS1):c.206C>T (p.Pro69Leu)Hypomyelinating leukodystrophy 9 [RCV003147641]|Inborn genetic diseases [RCV004039551]|RARS1-related disorder [RCV003968430]|not provided [RCV001652969]likely benign|uncertain significance5168492684168492684Human2name , alternate_id
8660496CV135544single nucleotide variantNM_020320.5(RARS2):c.703G>A (p.Val235Met)Pontocerebellar hypoplasia type 6 [RCV000999762]|RARS2-related disorder [RCV003964988]|not provided [RCV000676832]|not specified [RCV000118126]benign|likely benign68753085287530852Human1name , alternate_id
8692634CV142601single nucleotide variantNM_020320.5(RARS2):c.1410C>A (p.Leu470=)Pontocerebellar hypoplasia type 6 [RCV001160816]|RARS2-related disorder [RCV003925263]|not provided [RCV000872079]|not specified [RCV000127731]benign|likely benign68751863587518635Human1name , alternate_id
152983713CV1672342single nucleotide variantNM_002887.4(RARS1):c.1465G>A (p.Glu489Lys)Inborn genetic diseases [RCV004047276]|RARS1-related disorder [RCV003926335]|not provided [RCV002238066]likely benign|conflicting interpretations of pathogenicity5168516790168516790Human2alternate_id
155937677CV1867918single nucleotide variantNM_020320.5(RARS2):c.734G>A (p.Arg245Gln)Inborn genetic diseases [RCV002571584]|RARS2-related disorder [RCV003408294]|not provided [RCV002574729]|not specified [RCV002510253]pathogenic|likely pathogenic|uncertain significance68753082187530821Human2alternate_id
10409684CV211267duplicationNM_020320.5(RARS2):c.1582_1583dup (p.Leu528fs)Pontocerebellar hypoplasia type 6 [RCV003462310]|RARS2-related disorder [RCV003401073]|not provided [RCV000196620]pathogenic|likely pathogenic68751680887516809Human1alternate_id
401927359CV2797073deletionNM_002887.4(RARS1):c.1795del (p.Asp599fs)RARS1-related disorder [RCV003406235]likely pathogenic5168517984168517984Humantrait , alternate_id
11608020CV309108single nucleotide variantNM_020320.5(RARS2):c.207A>G (p.Ala69=)Pontocerebellar hypoplasia type 6 [RCV000350296]|RARS2-related disorder [RCV003972507]|not provided [RCV000943541]|not specified [RCV000431672]benign|likely benign|uncertain significance68756413687564136Human1name , alternate_id
405270544CV3213272single nucleotide variantNM_002887.4(RARS1):c.1221T>C (p.Val407=)RARS1-related disorder [RCV003971372]likely benign5168506184168506184Humanname , trait , alternate_id
12833415CV368527single nucleotide variantNM_002887.4(RARS1):c.1239T>G (p.Ser413=)RARS1-related disorder [RCV003972650]|not provided [RCV002522409]|not specified [RCV000418449]likely benign5168506724168506724Human1name , alternate_id
12848097CV369735single nucleotide variantNM_002887.4(RARS1):c.982G>A (p.Val328Ile)RARS1-related disorder [RCV003972597]|not provided [RCV000973186]|not specified [RCV000444672]benign5168502030168502030Human1alternate_id
12839257CV369738single nucleotide variantNM_002887.4(RARS1):c.1127T>A (p.Val376Glu)Hypomyelinating leukodystrophy 9 [RCV001731680]|RARS1-related disorder [RCV003959899]|not provided [RCV002525344]|not specified [RCV000428474]benign|likely benign5168506090168506090Human1alternate_id
12858964CV389132single nucleotide variantNM_020320.5(RARS2):c.1327T>C (p.Ser443Pro)Abnormal brain morphology [RCV000454292]|Inborn genetic diseases [RCV002522741]|Pontocerebellar hypoplasia type 6 [RCV003463833]|Pontoneocerebellar hypoplasia [RCV002282147]|RARS2-related disorder [RCV003418144]|not provided [RCV002225614]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance68751871887518718Human5alternate_id
13538176CV501275single nucleotide variantNM_002887.4(RARS1):c.1696T>C (p.Leu566=)RARS1-related disorder [RCV003935666]|not provided [RCV001697570]likely benign5168517885168517885Human1name , alternate_id
127271910CV1095682single nucleotide variantNM_020320.5(RARS2):c.6G>C (p.Ala2=)not provided [RCV001441988]likely benign68758995287589952Humanname
127290570CV1117264single nucleotide variantNM_020320.5(RARS2):c.6G>T (p.Ala2=)not provided [RCV001458474]likely benign68758995287589952Humanname
152983685CV1672305single nucleotide variantNM_002887.4(RARS1):c.6C>T (p.Asp2=)not provided [RCV002238038]likely benign5168486504168486504Humanname
152983686CV1672306single nucleotide variantNM_002887.4(RARS1):c.9A>C (p.Val3=)not provided [RCV002238039]likely benign5168486507168486507Humanname
12846523CV368075single nucleotide variantNM_002887.4(RARS1):c.9A>G (p.Val3=)not specified [RCV000441800]likely benign5168486507168486507Humanname
12838969CV368786single nucleotide variantNM_020320.5(RARS2):c.9C>T (p.Cys3=)not provided [RCV000913522]|not specified [RCV000427942]likely benign68758994987589949Humanname
15101195CV782686single nucleotide variantNM_020320.5(RARS2):c.6G>A (p.Ala2=)Pontocerebellar hypoplasia type 6 [RCV001275000]|not provided [RCV000975542]likely benign68758995287589952Human1name
127292783CV1117263single nucleotide variantNM_020320.5(RARS2):c.24T>C (p.Ala8=)not provided [RCV001451824]likely benign68758993487589934Humanname
127308728CV1138176single nucleotide variantNM_020320.5(RARS2):c.21C>A (p.Arg7=)not provided [RCV001500853]likely benign68758993787589937Humanname
152120759CV1547446single nucleotide variantNM_020320.5(RARS2):c.21C>G (p.Arg7=)not provided [RCV002081518]likely benign68758993787589937Humanname
152106990CV1577765single nucleotide variantNM_020320.5(RARS2):c.12C>G (p.Gly4=)not provided [RCV002096309]likely benign68758994687589946Humanname
152983687CV1672307single nucleotide variantNM_002887.4(RARS1):c.10C>T (p.Leu4=)not provided [RCV002238040]benign5168486508168486508Humanname
152983688CV1672308single nucleotide variantNM_002887.4(RARS1):c.15G>T (p.Val5=)not provided [RCV002238041]likely benign5168486513168486513Humanname
152983690CV1672310single nucleotide variantNM_002887.4(RARS1):c.24C>T (p.Cys8=)not provided [RCV002238043]likely benign5168486522168486522Humanname
155996614CV1875908single nucleotide variantNM_020320.5(RARS2):c.18C>G (p.Arg6=)not provided [RCV003076375]likely benign68758994087589940Humanname
156352236CV1997928single nucleotide variantNM_020320.5(RARS2):c.21C>T (p.Arg7=)not provided [RCV002675675]likely benign68758993787589937Humanname
405131299CV3011037single nucleotide variantNM_020320.5(RARS2):c.27T>A (p.Ile9=)not provided [RCV003701666]likely benign68758993187589931Humanname
405235109CV3040659single nucleotide variantNM_002887.4(RARS1):c.12G>C (p.Leu4=)not provided [RCV003712123]likely benign5168486510168486510Humanname
402468040CV3174238single nucleotide variantNM_020320.5(RARS2):c.12C>T (p.Gly4=)not provided [RCV003873521]likely benign68758994687589946Humanname
597859498CV3769959single nucleotide variantNM_020320.5(RARS2):c.15T>C (p.Phe5=)not provided [RCV005105810]likely benign68758994387589943Humanname
126740402CV1020066single nucleotide variantNM_002887.4(RARS1):c.2T>G (p.Met1Arg)Leukodystrophy, hypomyelinating, 9 [RCV001335989]pathogenic5168486500168486500Humanname
126740407CV1020067single nucleotide variantNM_002887.4(RARS1):c.36G>C (p.Leu12=)Hypomyelinating leukodystrophy 9 [RCV001335990]|not provided [RCV002546755]likely benign|uncertain significance5168486534168486534Human1name
127269294CV1060924single nucleotide variantNM_020320.5(RARS2):c.9C>A (p.Cys3Ter)Pontocerebellar hypoplasia type 6 [RCV003463029]|not provided [RCV001389477]pathogenic|likely pathogenic68758994987589949Human1name
127238104CV1060925single nucleotide variantNM_020320.5(RARS2):c.3G>A (p.Met1Ile)Pontoneocerebellar hypoplasia [RCV001797837]|not provided [RCV001382953]pathogenic68758995587589955Human2name
127262100CV1095680single nucleotide variantNM_020320.5(RARS2):c.96A>G (p.Pro32=)not provided [RCV001438867]likely benign68756953187569531Humanname
127267254CV1095681single nucleotide variantNM_020320.5(RARS2):c.60A>G (p.Pro20=)not provided [RCV001440508]likely benign68756956787569567Humanname
127319943CV1138174single nucleotide variantNM_020320.5(RARS2):c.69C>T (p.Asn23=)not provided [RCV001504251]likely benign68756955887569558Humanname
150497155CV1208708single nucleotide variantNM_002887.4(RARS1):c.3G>T (p.Met1Ile)not provided [RCV001593924]pathogenic5168486501168486501Humanname
150521488CV1289148single nucleotide variantNM_020320.5(RARS2):c.7T>C (p.Cys3Arg)not provided [RCV001725913]uncertain significance68758995187589951Humanname
150554965CV1309955single nucleotide variantNM_020320.5(RARS2):c.9C>G (p.Cys3Trp)not provided [RCV003237693]uncertain significance68758994987589949Humanname
8660495CV135543single nucleotide variantNM_020320.5(RARS2):c.63A>G (p.Pro21=)Pontocerebellar hypoplasia type 6 [RCV000295839]|not provided [RCV000676837]|not specified [RCV000118125]benign|likely benign68756956487569564Human1name
151882867CV1364394single nucleotide variantNM_020320.5(RARS2):c.2T>C (p.Met1Thr)Pontocerebellar hypoplasia type 6 [RCV005042591]|not provided [RCV001999931]pathogenic68758995687589956Human1name
151786711CV1393302single nucleotide variantNM_020320.5(RARS2):c.1A>C (p.Met1Leu)Pontocerebellar hypoplasia type 6 [RCV005042600]|not provided [RCV001972623]pathogenic|likely pathogenic68758995787589957Human1name
151730999CV1425718single nucleotide variantNM_020320.5(RARS2):c.3G>T (p.Met1Ile)Pontocerebellar hypoplasia type 6 [RCV005042584]|not provided [RCV002004774]pathogenic68758995587589955Human1name
151736341CV1464604single nucleotide variantNM_020320.5(RARS2):c.2T>A (p.Met1Lys)not provided [RCV001946619]pathogenic68758995687589956Humanname
152035619CV1545781single nucleotide variantNM_020320.5(RARS2):c.70T>C (p.Leu24=)not provided [RCV002164890]likely benign68756955787569557Humanname
9686565CV171796single nucleotide variantNM_002887.4(RARS1):c.5A>G (p.Asp2Gly)Hypomyelinating leukodystrophy 9 [RCV000149498]|not provided [RCV002228537]pathogenic5168486503168486503Human1name
9686568CV171799single nucleotide variantNM_002887.4(RARS1):c.1A>G (p.Met1Val)Hypomyelinating leukodystrophy 9 [RCV000149501]|not provided [RCV000314506]pathogenic5168486499168486499Human1name
155800450CV1863599single nucleotide variantNM_020320.5(RARS2):c.4G>A (p.Ala2Thr)not provided [RCV002474022]uncertain significance68758995487589954Humanname
156357341CV1913898single nucleotide variantNM_002887.4(RARS1):c.7G>C (p.Val3Leu)Inborn genetic diseases [RCV003269485]|not provided [RCV002632430]uncertain significance5168486505168486505Human1name
10050836CV192515single nucleotide variantNM_020320.5(RARS2):c.78A>C (p.Thr26=)Pontocerebellar hypoplasia type 6 [RCV001159553]|not provided [RCV000676836]likely benign|conflicting interpretations of pathogenicity|uncertain significance68756954987569549Human1name
156128353CV1993158single nucleotide variantNM_002887.4(RARS1):c.85T>C (p.Leu29=)not provided [RCV002623214]likely benign5168488641168488641Humanname
11060102CV226903single nucleotide variantNM_020320.5(RARS2):c.1A>G (p.Met1Val)Inborn genetic diseases [RCV000210553]|Pontocerebellar hypoplasia type 6 [RCV000680147]|not provided [RCV000657931]pathogenic|likely pathogenic68758995787589957Human2name
402494452CV2978455single nucleotide variantNM_020320.5(RARS2):c.78A>G (p.Thr26=)not provided [RCV003714104]likely benign68756954987569549Humanname
402509120CV2989400single nucleotide variantNM_020320.5(RARS2):c.45A>G (p.Arg15=)not provided [RCV003689306]likely benign68756958287569582Humanname
597707935CV3592922single nucleotide variantNM_002887.4(RARS1):c.8T>C (p.Val3Ala)Inborn genetic diseases [RCV004957603]uncertain significance5168486506168486506Human1name
12850027CV368072single nucleotide variantNM_002887.4(RARS1):c.2T>C (p.Met1Thr)Hypomyelinating leukodystrophy 9 [RCV000785104]|Inborn genetic diseases [RCV004659032]|not provided [RCV000440377]pathogenic|likely pathogenic5168486500168486500Human2name
12838953CV368366single nucleotide variantNM_002887.4(RARS1):c.7G>A (p.Val3Ile)Hypomyelinating leukodystrophy 9 [RCV000986120]|not provided [RCV001511711]|not specified [RCV000427919]benign5168486505168486505Human1name
597686029CV3718706single nucleotide variantNM_020320.5(RARS2):c.3G>C (p.Met1Ile)Pontocerebellar hypoplasia type 6 [RCV005045877]likely pathogenic68758995587589955Human1name
13509186CV481730single nucleotide variantNM_002887.4(RARS1):c.2T>A (p.Met1Lys)not provided [RCV000579090]pathogenic5168486500168486500Humanname
26902565CV857621single nucleotide variantNM_020320.5(RARS2):c.5C>T (p.Ala2Val)Pontocerebellar hypoplasia type 6 [RCV001089497]|not provided [RCV002051916]|not specified [RCV005236591]uncertain significance68758995387589953Human1name
28904220CV859566single nucleotide variantNM_020320.5(RARS2):c.2T>G (p.Met1Arg)Pontocerebellar hypoplasia type 6 [RCV002482168]|Pontoneocerebellar hypoplasia [RCV001806024]|not provided [RCV001093190]pathogenic|likely pathogenic68758995687589956Human3name
38597470CV963143single nucleotide variantNM_020320.5(RARS2):c.1A>T (p.Met1Leu)Pontocerebellar hypoplasia type 6 [RCV001251132]|not provided [RCV001310929]pathogenic|likely pathogenic68758995787589957Human1name
126746872CV1016533single nucleotide variantNM_002887.4(RARS1):c.11T>A (p.Leu4Gln)Hypomyelinating leukodystrophy 9 [RCV001330998]uncertain significance5168486509168486509Human1name
127317851CV1155513single nucleotide variantNM_020320.5(RARS2):c.13T>C (p.Phe5Leu)Inborn genetic diseases [RCV002568039]|not provided [RCV001521342]benign|uncertain significance68758994587589945Human1name
151885877CV1428473deletionNM_020320.5(RARS2):c.68del (p.Asn23fs)not provided [RCV002037852]pathogenic68756955987569559Humanname
152114721CV1552425single nucleotide variantNM_020320.5(RARS2):c.264A>G (p.Val88=)not provided [RCV002153507]likely benign68756273587562735Humanname
152123890CV1587323single nucleotide variantNM_020320.5(RARS2):c.102C>T (p.Ser34=)not provided [RCV002136065]likely benign68756952587569525Humanname
152983689CV1672309single nucleotide variantNM_002887.4(RARS1):c.23G>T (p.Cys8Phe)not provided [RCV002238042]uncertain significance5168486521168486521Humanname
155266718CV1699279single nucleotide variantNM_002887.4(RARS1):c.19G>C (p.Glu7Gln)not provided [RCV002283074]uncertain significance5168486517168486517Humanname
155645660CV1709014single nucleotide variantNM_002887.4(RARS1):c.17C>T (p.Ser6Phe)not provided [RCV002291890]uncertain significance5168486515168486515Humanname
155797324CV1863273single nucleotide variantNM_020320.5(RARS2):c.25A>G (p.Ile9Val)Pontocerebellar hypoplasia type 6 [RCV002470547]|not specified [RCV004782939]conflicting interpretations of pathogenicity|uncertain significance68758993387589933Human1name
156357180CV1877596single nucleotide variantNM_020320.5(RARS2):c.22G>T (p.Ala8Ser)not provided [RCV003065336]uncertain significance68758993687589936Humanname
155996135CV1986901single nucleotide variantNM_020320.5(RARS2):c.204A>G (p.Leu68=)not provided [RCV002618240]likely benign68756413987564139Humanname
156228866CV1991707single nucleotide variantNM_002887.4(RARS1):c.20A>T (p.Glu7Val)not provided [RCV002626720]uncertain significance5168486518168486518Humanname
156163950CV2056522single nucleotide variantNM_020320.5(RARS2):c.288C>T (p.Leu96=)not provided [RCV002801735]likely benign68756271187562711Humanname
155925204CV2099525single nucleotide variantNM_002887.4(RARS1):c.231T>C (p.Ile77=)not provided [RCV002903536]likely benign5168492709168492709Humanname
10409577CV211293single nucleotide variantNM_020320.5(RARS2):c.19C>T (p.Arg7Cys)Inborn genetic diseases [RCV004955332]|Pontocerebellar hypoplasia type 6 [RCV001833149]|not provided [RCV001705131]uncertain significance68758993987589939Human2name
155911258CV2141653single nucleotide variantNM_020320.5(RARS2):c.16C>T (p.Arg6Cys)Pontocerebellar hypoplasia type 6 [RCV004572492]|not provided [RCV002968067]likely pathogenic|uncertain significance68758994287589942Human1name
243064083CV2413691single nucleotide variantNM_020320.5(RARS2):c.19C>A (p.Arg7Ser)Pontocerebellar hypoplasia type 6 [RCV003142699]uncertain significance68758993987589939Human1name
402491817CV2877786single nucleotide variantNM_020320.5(RARS2):c.180T>C (p.Asp60=)not provided [RCV003545018]likely benign68756416387564163Humanname
405128738CV2883908single nucleotide variantNM_020320.5(RARS2):c.217A>C (p.Arg73=)not provided [RCV003559831]likely benign68756278287562782Humanname
405169736CV2911853deletionNM_020320.5(RARS2):c.31del (p.Cys11fs)not provided [RCV003563023]pathogenic68758992787589927Humanname
402484186CV2998234single nucleotide variantNM_020320.5(RARS2):c.132T>C (p.Leu44=)not provided [RCV003686901]likely benign68756421187564211Humanname
404979838CV3009728single nucleotide variantNM_020320.5(RARS2):c.153A>G (p.Glu51=)not provided [RCV003691041]likely benign68756419087564190Humanname
402490070CV3011687single nucleotide variantNM_020320.5(RARS2):c.132T>G (p.Leu44=)not provided [RCV003687448]likely benign68756421187564211Humanname
11592958CV301229single nucleotide variantNM_020320.5(RARS2):c.26T>C (p.Ile9Thr)Pontocerebellar hypoplasia type 6 [RCV000343741]|not provided [RCV002524510]uncertain significance68758993287589932Human1name
404978848CV3013163single nucleotide variantNM_020320.5(RARS2):c.177A>G (p.Pro59=)not provided [RCV003690862]likely benign68756416687564166Humanname
405131766CV3021875single nucleotide variantNM_020320.5(RARS2):c.105A>G (p.Gln35=)not provided [RCV003701760]likely benign68756952287569522Humanname
405179882CV3148832single nucleotide variantNM_020320.5(RARS2):c.159C>T (p.Asp53=)not provided [RCV003858610]likely benign68756418487564184Humanname
405871441CV3399260deletionNM_020320.5(RARS2):c.59del (p.Pro20fs)Pontocerebellar hypoplasia type 6 [RCV004574691]likely pathogenic68756956887569568Human1name
408373115CV3502125single nucleotide variantNM_020320.5(RARS2):c.16C>G (p.Arg6Gly)not provided [RCV004725712]uncertain significance68758994287589942Humanname
12844569CV368085single nucleotide variantNM_002887.4(RARS1):c.243A>G (p.Gln81=)not provided [RCV001513705]|not specified [RCV000438227]benign5168492721168492721Humanname
12840331CV369339single nucleotide variantNM_020320.5(RARS2):c.201A>G (p.Arg67=)not provided [RCV000923119]likely benign68756414287564142Humanname
597862002CV3766432single nucleotide variantNM_020320.5(RARS2):c.117A>C (p.Val39=)not provided [RCV005106157]likely benign68756422687564226Humanname
598125895CV3883338single nucleotide variantNM_020320.5(RARS2):c.23C>G (p.Ala8Gly)Pontocerebellar hypoplasia type 6 [RCV005233209]likely pathogenic68758993587589935Human1name
617153257CV4018617single nucleotide variantNM_020320.5(RARS2):c.14T>C (p.Phe5Ser)not specified [RCV005418879]uncertain significance68758994487589944Humanname
12913509CV421606deletionNM_020320.5(RARS2):c.42del (p.Arg15fs)Mitochondrial disease [RCV005355996]|Pontocerebellar hypoplasia type 6 [RCV002489215]|not provided [RCV000493905]pathogenic|likely pathogenic68756958587569585Human2name
13537536CV501444single nucleotide variantNM_002887.4(RARS1):c.198G>A (p.Arg66=)not specified [RCV000610544]likely benign5168492676168492676Humanname
13527330CV501493single nucleotide variantNM_020320.5(RARS2):c.294A>C (p.Thr98=)not specified [RCV000599716]likely benign68756270587562705Humanname
15153400CV749402single nucleotide variantNM_002887.4(RARS1):c.204A>G (p.Lys68=)not provided [RCV000924053]likely benign5168492682168492682Humanname
15131462CV765908single nucleotide variantNM_020320.5(RARS2):c.234G>T (p.Val78=)not provided [RCV000942228]likely benign68756276587562765Humanname
15104456CV782685single nucleotide variantNM_020320.5(RARS2):c.15T>A (p.Phe5Leu)Pontocerebellar hypoplasia type 6 [RCV001832231]|not provided [RCV000976226]likely benign|conflicting interpretations of pathogenicity68758994387589943Human1name
126752312CV1006033single nucleotide variantNM_002887.4(RARS1):c.76A>T (p.Ile26Phe)not provided [RCV001327089]uncertain significance5168488632168488632Humanname
126732617CV1020303single nucleotide variantNM_020320.5(RARS2):c.340T>C (p.Leu114=)Pontocerebellar hypoplasia type 6 [RCV001334070]uncertain significance68755546387555463Human1name
127236396CV1074103single nucleotide variantNM_020320.5(RARS2):c.903C>A (p.Leu301=)not provided [RCV001414664]likely benign68752462887524628Humanname
127273186CV1074104single nucleotide variantNM_020320.5(RARS2):c.885A>G (p.Gly295=)Pontocerebellar hypoplasia type 6 [RCV001831438]|not provided [RCV001405931]likely benign68752464687524646Human1name
127254004CV1074106single nucleotide variantNM_020320.5(RARS2):c.433T>C (p.Leu145=)not provided [RCV001418463]likely benign68754860987548609Humanname
127264201CV1095671single nucleotide variantNM_020320.5(RARS2):c.867A>G (p.Leu289=)not provided [RCV001439574]likely benign68752955387529553Humanname
127284382CV1095673single nucleotide variantNM_020320.5(RARS2):c.645T>C (p.Asp215=)not provided [RCV001449386]likely benign68753091087530910Humanname
127271294CV1095674single nucleotide variantNM_020320.5(RARS2):c.621A>G (p.Val207=)not provided [RCV001430894]likely benign68753093487530934Humanname
127237658CV1095675single nucleotide variantNM_020320.5(RARS2):c.594T>A (p.Pro198=)not provided [RCV001422738]likely benign68754193687541936Humanname
127284321CV1095676single nucleotide variantNM_020320.5(RARS2):c.525C>A (p.Gly175=)not provided [RCV001449309]likely benign68754562687545626Humanname
127239033CV1095678single nucleotide variantNM_020320.5(RARS2):c.426T>C (p.Val142=)not provided [RCV001423046]likely benign68754861687548616Humanname
127294142CV1117255single nucleotide variantNM_020320.5(RARS2):c.972C>T (p.Thr324=)not provided [RCV001476728]likely benign68752455987524559Humanname
127326322CV1117256single nucleotide variantNM_020320.5(RARS2):c.864C>T (p.Leu288=)not provided [RCV001468715]likely benign68752955687529556Humanname
127295785CV1117257single nucleotide variantNM_020320.5(RARS2):c.739T>C (p.Leu247=)not provided [RCV001459816]likely benign68753081687530816Humanname
127326749CV1117258single nucleotide variantNM_020320.5(RARS2):c.717A>T (p.Ser239=)not provided [RCV001468861]likely benign68753083887530838Humanname
127313585CV1117259single nucleotide variantNM_020320.5(RARS2):c.657A>G (p.Val219=)not provided [RCV001457496]likely benign68753089887530898Humanname
127288804CV1117260single nucleotide variantNM_020320.5(RARS2):c.648T>C (p.Asp216=)not provided [RCV001450633]likely benign68753090787530907Humanname
127294033CV1117262single nucleotide variantNM_020320.5(RARS2):c.336T>C (p.Tyr112=)not provided [RCV001476708]likely benign68755546787555467Humanname
127301639CV1138162single nucleotide variantNM_020320.5(RARS2):c.966T>C (p.Tyr322=)not provided [RCV001498897]likely benign68752456587524565Humanname
127319609CV1138164single nucleotide variantNM_020320.5(RARS2):c.732T>C (p.Phe244=)not provided [RCV001483936]likely benign68753082387530823Humanname
127308769CV1138166single nucleotide variantNM_020320.5(RARS2):c.588C>G (p.Ser196=)not provided [RCV001480688]likely benign68754194287541942Humanname
127310109CV1138167single nucleotide variantNM_020320.5(RARS2):c.489T>C (p.His163=)not provided [RCV001501230]likely benign68754566287545662Humanname
127309750CV1138168single nucleotide variantNM_020320.5(RARS2):c.414A>G (p.Lys138=)not provided [RCV001501148]likely benign68754862887548628Humanname
127319265CV1138170single nucleotide variantNM_020320.5(RARS2):c.357C>T (p.Phe119=)not provided [RCV001483789]likely benign68755544687555446Humanname
127323650CV1138171single nucleotide variantNM_020320.5(RARS2):c.339A>T (p.Gly113=)not provided [RCV001485295]likely benign68755546487555464Humanname
150542627CV1302656single nucleotide variantNM_020320.5(RARS2):c.34C>G (p.Gln12Glu)not provided [RCV001761346]uncertain significance68758992487589924Humanname
150544804CV1315253deletionNM_002887.4(RARS1):c.204del (p.Lys68fs)Hypomyelinating leukodystrophy 9 [RCV001783667]likely pathogenic5168492680168492680Humanname
8660494CV135542single nucleotide variantNM_020320.5(RARS2):c.606C>T (p.Leu202=)Pontocerebellar hypoplasia type 6 [RCV000999763]|not provided [RCV000676833]|not specified [RCV000118124]benign|likely benign|conflicting interpretations of pathogenicity68754192487541924Human1name
8692627CV142594single nucleotide variantNM_020320.5(RARS2):c.456T>C (p.Asn152=)Pontocerebellar hypoplasia type 6 [RCV001164483]|not provided [RCV000676834]|not specified [RCV000127721]benign|likely benign|uncertain significance68754569587545695Human1name
8692632CV142599single nucleotide variantNM_020320.5(RARS2):c.888G>C (p.Thr296=)Pontocerebellar hypoplasia type 6 [RCV000363564]|not provided [RCV000872919]|not specified [RCV000193629]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance68752464387524643Human1name
152106027CV1527279single nucleotide variantNM_020320.5(RARS2):c.555C>T (p.Phe185=)not provided [RCV002079621]likely benign68754197587541975Humanname
152070551CV1535386single nucleotide variantNM_020320.5(RARS2):c.561G>C (p.Leu187=)not provided [RCV002111390]likely benign68754196987541969Humanname
152060006CV1536213single nucleotide variantNM_020320.5(RARS2):c.495A>G (p.Val165=)not provided [RCV002146661]likely benign68754565687545656Humanname
152060773CV1540679single nucleotide variantNM_020320.5(RARS2):c.804A>G (p.Gly268=)not provided [RCV002110085]likely benign68752961687529616Humanname
152074257CV1557480single nucleotide variantNM_020320.5(RARS2):c.558G>A (p.Gln186=)not provided [RCV002130004]likely benign68754197287541972Humanname
152137136CV1580365single nucleotide variantNM_020320.5(RARS2):c.984A>G (p.Ala328=)not provided [RCV002156283]likely benign68752151587521515Humanname
152125594CV1580926single nucleotide variantNM_020320.5(RARS2):c.447C>T (p.Ile149=)not provided [RCV002082171]likely benign68754859587548595Humanname
152049785CV1585606single nucleotide variantNM_020320.5(RARS2):c.423T>C (p.His141=)not provided [RCV002145537]likely benign68754861987548619Humanname
152039787CV1592845single nucleotide variantNM_020320.5(RARS2):c.585G>A (p.Gln195=)not provided [RCV002188082]likely benign68754194587541945Humanname
152099237CV1611856single nucleotide variantNM_020320.5(RARS2):c.801A>G (p.Ser267=)not provided [RCV002172879]likely benign68752961987529619Humanname
152134533CV1638409single nucleotide variantNM_020320.5(RARS2):c.309A>G (p.Gln103=)not provided [RCV002083324]likely benign68755549487555494Humanname
152126436CV1646351single nucleotide variantNM_020320.5(RARS2):c.720G>C (p.Leu240=)not provided [RCV002217470]likely benign68753083587530835Humanname
152067597CV1647210single nucleotide variantNM_020320.5(RARS2):c.369C>A (p.Pro123=)not provided [RCV002129181]likely benign68755543487555434Humanname
152074574CV1647545single nucleotide variantNM_020320.5(RARS2):c.762G>C (p.Arg254=)not provided [RCV002210424]likely benign68753079387530793Humanname
152064831CV1652443single nucleotide variantNM_020320.5(RARS2):c.531G>A (p.Gln177=)not provided [RCV002090750]likely benign68754562087545620Humanname
152983698CV1672321single nucleotide variantNM_002887.4(RARS1):c.747C>T (p.Ile249=)not provided [RCV002238051]likely benign5168497273168497273Humanname
152978260CV1672325single nucleotide variantNM_002887.4(RARS1):c.885T>C (p.Val295=)not provided [RCV002236521]likely benign5168500653168500653Humanname
152978261CV1672326single nucleotide variantNM_002887.4(RARS1):c.897T>C (p.Gly299=)not provided [RCV002236522]likely benign5168500665168500665Humanname
156394077CV1876302single nucleotide variantNM_020320.5(RARS2):c.516C>T (p.Gly172=)not provided [RCV003068376]uncertain significance68754563587545635Humanname
156156057CV1896277single nucleotide variantNM_002887.4(RARS1):c.675T>C (p.Phe225=)not provided [RCV003082714]likely benign5168495410168495410Humanname
156308758CV1912804single nucleotide variantNM_020320.5(RARS2):c.59C>T (p.Pro20Leu)not provided [RCV002599533]uncertain significance68756956887569568Humanname
156092078CV1963351single nucleotide variantNM_002887.4(RARS1):c.83G>A (p.Arg28Gln)not provided [RCV002570259]uncertain significance5168488639168488639Humanname
156392940CV1965088single nucleotide variantNM_020320.5(RARS2):c.43A>G (p.Arg15Gly)not provided [RCV002584047]uncertain significance68756958487569584Humanname
156380375CV1968568single nucleotide variantNM_002887.4(RARS1):c.55A>G (p.Ile19Val)not provided [RCV002603923]uncertain significance5168488611168488611Humanname
156118054CV1982611single nucleotide variantNM_020320.5(RARS2):c.360T>C (p.Ser120=)not provided [RCV002622837]likely benign68755544387555443Humanname
156265228CV2054137single nucleotide variantNM_002887.4(RARS1):c.528C>T (p.Thr176=)not provided [RCV002792152]likely benign5168494599168494599Humanname
156355919CV2062771single nucleotide variantNM_020320.5(RARS2):c.696G>C (p.Leu232=)not provided [RCV002812126]likely benign68753085987530859Humanname
156314099CV2063635single nucleotide variantNM_020320.5(RARS2):c.685C>A (p.Arg229=)not provided [RCV002834293]likely benign68753087087530870Humanname
156302080CV2069980single nucleotide variantNM_020320.5(RARS2):c.868C>T (p.Leu290=)not provided [RCV002833668]likely benign68752955287529552Humanname
155988726CV2070550single nucleotide variantNM_020320.5(RARS2):c.705G>A (p.Val235=)not provided [RCV002842866]likely benign68753085087530850Humanname
10403472CV207425single nucleotide variantNM_020320.5(RARS2):c.726A>G (p.Gln242=)Pontocerebellar hypoplasia type 6 [RCV001164481]|not provided [RCV000872362]|not specified [RCV000192607]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance68753082987530829Human1name
155982105CV2078532single nucleotide variantNM_020320.5(RARS2):c.600G>A (p.Gln200=)not provided [RCV002863819]likely benign68754193087541930Humanname
156335532CV2099414single nucleotide variantNM_002887.4(RARS1):c.777T>C (p.Tyr259=)not provided [RCV002900180]likely benign5168497303168497303Humanname
156387759CV2122143single nucleotide variantNM_002887.4(RARS1):c.882A>G (p.Val294=)not provided [RCV002943620]likely benign5168500650168500650Humanname
156295070CV2162617single nucleotide variantNM_020320.5(RARS2):c.912T>C (p.Asn304=)not provided [RCV003045299]likely benign68752461987524619Humanname
156215128CV2171194single nucleotide variantNM_020320.5(RARS2):c.933T>C (p.Cys311=)not provided [RCV003042489]likely benign68752459887524598Humanname
12907410CV227304deletionNM_020320.5(RARS2):c.189del (p.Gln64fs)Pontocerebellar hypoplasia type 6 [RCV000490434]uncertain significance68756415487564154Human1name
329395768CV2454544single nucleotide variantNM_002887.4(RARS1):c.41A>G (p.Gln14Arg)Inborn genetic diseases [RCV003194599]uncertain significance5168486539168486539Human1name
401740670CV2702583single nucleotide variantNM_020320.5(RARS2):c.85T>A (p.Ser29Thr)Inborn genetic diseases [RCV003292425]uncertain significance68756954287569542Human1name
401761172CV2706243single nucleotide variantNM_020320.5(RARS2):c.62C>T (p.Pro21Leu)Inborn genetic diseases [RCV003257464]uncertain significance68756956587569565Human1name
11638386CV273972single nucleotide variantNM_020320.5(RARS2):c.888G>A (p.Thr296=)Pontocerebellar hypoplasia type 6 [RCV001162442]|not provided [RCV000726374]likely benign|conflicting interpretations of pathogenicity|uncertain significance68752464387524643Human1name
401877058CV2767811single nucleotide variantNM_020320.5(RARS2):c.47T>C (p.Val16Ala)Inborn genetic diseases [RCV003348287]uncertain significance68756958087569580Human1name
401947975CV2833290duplicationNM_020320.5(RARS2):c.156dup (p.Asp53fs)Pontocerebellar hypoplasia type 6 [RCV003471806]likely pathogenic68756418687564187Human1name
405085505CV2865937single nucleotide variantNM_020320.5(RARS2):c.759T>C (p.Ile253=)not provided [RCV003549537]likely benign68753079687530796Humanname
402522775CV2867428deletionNM_020320.5(RARS2):c.103del (p.Gln35fs)not provided [RCV003547792]pathogenic68756952487569524Humanname
405048522CV2886769single nucleotide variantNM_002887.4(RARS1):c.29C>T (p.Ala10Val)not provided [RCV003579623]uncertain significance5168486527168486527Humanname
405164951CV2905615single nucleotide variantNM_020320.5(RARS2):c.333A>G (p.Lys111=)not provided [RCV003562593]likely benign68755547087555470Humanname
402466619CV2914871single nucleotide variantNM_020320.5(RARS2):c.762G>T (p.Arg254=)not provided [RCV003569492]likely benign68753079387530793Humanname
405187217CV2917646single nucleotide variantNM_020320.5(RARS2):c.552C>T (p.Gly184=)not provided [RCV003564547]likely benign68754197887541978Humanname
405223195CV2919016single nucleotide variantNM_020320.5(RARS2):c.924C>G (p.Ser308=)not provided [RCV003568746]likely benign68752460787524607Humanname
402482589CV2921810single nucleotide variantNM_020320.5(RARS2):c.453A>G (p.Gly151=)not provided [RCV003572230]likely benign68754569887545698Humanname
405061495CV2926361single nucleotide variantNM_020320.5(RARS2):c.543G>A (p.Leu181=)not provided [RCV003580507]likely benign68754198787541987Humanname
402469358CV2930953single nucleotide variantNM_020320.5(RARS2):c.672G>A (p.Gln224=)not provided [RCV003570088]likely benign68753088387530883Humanname
405037092CV2932790single nucleotide variantNM_020320.5(RARS2):c.441T>C (p.Ser147=)not provided [RCV003578762]likely benign68754860187548601Humanname
405012559CV2933949single nucleotide variantNM_020320.5(RARS2):c.300A>G (p.Thr100=)not provided [RCV003576862]likely benign68755550387555503Humanname
405121034CV2957664single nucleotide variantNM_020320.5(RARS2):c.369C>T (p.Pro123=)not provided [RCV003667366]likely benign68755543487555434Humanname
405142664CV2958848single nucleotide variantNM_020320.5(RARS2):c.582G>A (p.Leu194=)not provided [RCV003673372]likely benign68754194887541948Humanname
405139524CV2970383single nucleotide variantNM_020320.5(RARS2):c.861A>T (p.Gly287=)not provided [RCV003669076]likely benign68752955987529559Humanname
402486731CV2999088single nucleotide variantNM_020320.5(RARS2):c.312A>G (p.Gln104=)not provided [RCV003687129]likely benign68755549187555491Humanname
402495790CV3005767single nucleotide variantNM_020320.5(RARS2):c.756C>T (p.Tyr252=)not provided [RCV003687998]likely benign68753079987530799Humanname
11590960CV301228single nucleotide variantNM_020320.5(RARS2):c.783A>G (p.Val261=)Pontocerebellar hypoplasia type 6 [RCV000324358]|not provided [RCV001428875]likely benign|uncertain significance68752963787529637Human1name
405236916CV3032917single nucleotide variantNM_020320.5(RARS2):c.621A>C (p.Val207=)not provided [RCV003712518]likely benign68753093487530934Humanname
405234714CV3073980single nucleotide variantNM_020320.5(RARS2):c.684A>G (p.Gln228=)not provided [RCV003735634]likely benign68753087187530871Humanname
405236787CV3076790single nucleotide variantNM_020320.5(RARS2):c.34C>T (p.Gln12Ter)not provided [RCV003736037]pathogenic68758992487589924Humanname
405041514CV3141149single nucleotide variantNM_020320.5(RARS2):c.804A>C (p.Gly268=)not provided [RCV003831442]likely benign68752961687529616Humanname
405157107CV3152563single nucleotide variantNM_020320.5(RARS2):c.702T>C (p.Asp234=)not provided [RCV003840490]likely benign68753085387530853Humanname
405221554CV3158141single nucleotide variantNM_020320.5(RARS2):c.660A>G (p.Ala220=)not provided [RCV003863636]likely benign68753089587530895Humanname
405129223CV3163321single nucleotide variantNM_020320.5(RARS2):c.865C>T (p.Leu289=)not provided [RCV003854502]likely benign68752955587529555Humanname
405131803CV3163747single nucleotide variantNM_020320.5(RARS2):c.699C>T (p.Gly233=)not provided [RCV003854735]likely benign68753085687530856Humanname
405659482CV3312222single nucleotide variantNM_002887.4(RARS1):c.43C>G (p.Gln15Glu)Inborn genetic diseases [RCV004438542]uncertain significance5168486541168486541Human1name
405871174CV3399270single nucleotide variantNM_020320.5(RARS2):c.71T>A (p.Leu24Ter)Pontocerebellar hypoplasia type 6 [RCV004574701]likely pathogenic68756955687569556Human1name
12834553CV368517single nucleotide variantNM_002887.4(RARS1):c.342G>A (p.Gln114=)not provided [RCV001513706]|not specified [RCV000420149]benign5168492820168492820Humanname
12840498CV368523single nucleotide variantNM_002887.4(RARS1):c.729C>A (p.Thr243=)not provided [RCV001513707]|not specified [RCV000430829]benign5168497255168497255Humanname
12843092CV368781single nucleotide variantNM_020320.5(RARS2):c.660A>C (p.Ala220=)Pontocerebellar hypoplasia type 6 [RCV001164482]|not provided [RCV000878762]|not specified [RCV000435603]benign|likely benign68753089587530895Human1name
12846161CV369331single nucleotide variantNM_020320.5(RARS2):c.588C>T (p.Ser196=)not provided [RCV002063455]|not specified [RCV000441131]likely benign68754194287541942Humanname
12837525CV369336single nucleotide variantNM_020320.5(RARS2):c.318T>A (p.Ile106=)not provided [RCV000872100]|not specified [RCV000425318]likely benign68755548587555485Humanname
597830718CV3743256inversionNM_002887.4(RARS1):c.7_8inv (p.Val3Thr)not provided [RCV005062264]uncertain significance5168486505168486506Humanname
597848607CV3746494single nucleotide variantNM_002887.4(RARS1):c.360T>C (p.Gly120=)not provided [RCV005060313]likely benign5168492838168492838Humanname
597856140CV3748008single nucleotide variantNM_002887.4(RARS1):c.981C>T (p.Asp327=)not provided [RCV005066829]likely benign5168502029168502029Humanname
597899721CV3782925single nucleotide variantNM_002887.4(RARS1):c.49G>T (p.Glu17Ter)not provided [RCV005126945]pathogenic5168488605168488605Humanname
597857931CV3822335single nucleotide variantNM_020320.5(RARS2):c.384G>A (p.Val128=)not provided [RCV005174633]likely benign68755541987555419Humanname
597872127CV3849441single nucleotide variantNM_020320.5(RARS2):c.687A>G (p.Arg229=)not provided [RCV005197622]likely benign68753086887530868Humanname
8568670CV39869single nucleotide variantNM_020320.5(RARS2):c.35A>G (p.Gln12Arg)Inborn genetic diseases [RCV000623258]|Pontocerebellar hypoplasia type 6 [RCV000023899]|not provided [RCV000816795]pathogenic|likely pathogenic|drug response|uncertain significance|no classifications from unflagged records68758992387589923Human2name
13540356CV501485single nucleotide variantNM_020320.5(RARS2):c.688T>C (p.Leu230=)not provided [RCV000917466]|not specified [RCV000614584]likely benign68753086787530867Humanname
15190641CV699684single nucleotide variantNM_020320.5(RARS2):c.582G>T (p.Leu194=)not provided [RCV000954537]likely benign68754194887541948Humanname
15175564CV735809single nucleotide variantNM_020320.5(RARS2):c.735G>A (p.Arg245=)Pontocerebellar hypoplasia type 6 [RCV001273126]|not provided [RCV000906245]likely benign|uncertain significance68753082087530820Human1name
15173831CV765906single nucleotide variantNM_020320.5(RARS2):c.999A>G (p.Arg333=)not provided [RCV000928368]likely benign68752150087521500Humanname
15121380CV765907single nucleotide variantNM_020320.5(RARS2):c.444C>T (p.Thr148=)Pontocerebellar hypoplasia type 6 [RCV001273018]|not provided [RCV000940513]likely benign68754859887548598Human1name
15134822CV782684single nucleotide variantNM_020320.5(RARS2):c.580C>T (p.Leu194=)not provided [RCV000981816]likely benign68754195087541950Humanname
38476278CV923989single nucleotide variantNM_002887.4(RARS1):c.44A>G (p.Gln15Arg)not provided [RCV001215565]uncertain significance5168486542168486542Humanname
38598395CV965415single nucleotide variantNM_020320.5(RARS2):c.29C>T (p.Ala10Val)Pontocerebellar hypoplasia type 6 [RCV001254879]likely pathogenic|uncertain significance68758992987589929Human1name
126746874CV1016534single nucleotide variantNM_002887.4(RARS1):c.161G>A (p.Arg54Gln)Hypomyelinating leukodystrophy 9 [RCV001330999]|not provided [RCV002546435]uncertain significance5168488717168488717Human1name
127271400CV1060916duplicationNM_020320.5(RARS2):c.928dup (p.Ile310fs)Pontocerebellar hypoplasia type 6 [RCV002499819]|not provided [RCV001390148]pathogenic|likely pathogenic68752460287524603Human1name
127269155CV1060918deletionNM_020320.5(RARS2):c.437del (p.Arg146fs)not provided [RCV001382327]pathogenic68754860587548605Humanname
127261184CV1060923single nucleotide variantNM_020320.5(RARS2):c.184C>T (p.Gln62Ter)not provided [RCV001380481]pathogenic68756415987564159Humanname
127247766CV1074094single nucleotide variantNM_020320.5(RARS2):c.1677C>T (p.Val559=)not provided [RCV001394317]likely benign68751447387514473Humanname
127281560CV1074095single nucleotide variantNM_020320.5(RARS2):c.1629T>C (p.Asp543=)not provided [RCV001410571]likely benign68751497887514978Humanname
127272653CV1074096single nucleotide variantNM_020320.5(RARS2):c.1617A>G (p.Leu539=)not provided [RCV001405771]likely benign68751499087514990Humanname
127249500CV1074098single nucleotide variantNM_020320.5(RARS2):c.1326A>G (p.Leu442=)not provided [RCV001417334]likely benign68751871987518719Humanname
127235939CV1074099single nucleotide variantNM_020320.5(RARS2):c.1284G>T (p.Gly428=)not provided [RCV001414574]likely benign68751884587518845Humanname
127235806CV1074100single nucleotide variantNM_020320.5(RARS2):c.1167T>C (p.Asp389=)not provided [RCV001391956]likely benign68751965387519653Humanname
127254908CV1074101single nucleotide variantNM_020320.5(RARS2):c.1095A>C (p.Gly365=)not provided [RCV001400888]likely benign68752019787520197Humanname
127240267CV1095666single nucleotide variantNM_020320.5(RARS2):c.1602G>A (p.Val534=)not provided [RCV001434195]likely benign68751500587515005Humanname
127281688CV1095668single nucleotide variantNM_020320.5(RARS2):c.1578A>T (p.Leu526=)not provided [RCV001447302]likely benign68751681487516814Humanname
127266353CV1095669single nucleotide variantNM_020320.5(RARS2):c.1521G>A (p.Glu507=)not provided [RCV001440221]likely benign68751687187516871Humanname
127277565CV1095670single nucleotide variantNM_020320.5(RARS2):c.1368C>T (p.Arg456=)not provided [RCV001444498]likely benign68751867787518677Humanname
127299809CV1117244single nucleotide variantNM_020320.5(RARS2):c.1581T>G (p.Thr527=)not provided [RCV001453672]likely benign68751681187516811Humanname
127324806CV1117245single nucleotide variantNM_020320.5(RARS2):c.1515C>T (p.Phe505=)not provided [RCV001468285]likely benign68751687787516877Humanname
127314487CV1117247single nucleotide variantNM_020320.5(RARS2):c.1404C>G (p.Ala468=)not provided [RCV001464987]likely benign68751864187518641Humanname
127293467CV1117248single nucleotide variantNM_020320.5(RARS2):c.1371G>A (p.Gly457=)not provided [RCV001476600]likely benign68751867487518674Humanname
127318149CV1117249single nucleotide variantNM_020320.5(RARS2):c.1368C>A (p.Arg456=)not provided [RCV001466090]likely benign68751867787518677Humanname
127336768CV1117250single nucleotide variantNM_020320.5(RARS2):c.1276A>C (p.Arg426=)not provided [RCV001475210]likely benign68751885387518853Humanname
127298695CV1117252single nucleotide variantNM_020320.5(RARS2):c.1155T>G (p.Thr385=)not provided [RCV001460617]likely benign68751966587519665Humanname
127333048CV1117254single nucleotide variantNM_020320.5(RARS2):c.1044A>G (p.Lys348=)not provided [RCV001472643]likely benign68752024887520248Humanname
127310193CV1138152single nucleotide variantNM_020320.5(RARS2):c.1596A>G (p.Ala532=)not provided [RCV001501249]likely benign68751501187515011Humanname
127316421CV1138154single nucleotide variantNM_020320.5(RARS2):c.1503T>C (p.His501=)not provided [RCV001503015]likely benign68751817787518177Humanname
127318896CV1138155single nucleotide variantNM_020320.5(RARS2):c.1446G>C (p.Leu482=)not provided [RCV001483650]likely benign68751823487518234Humanname
127330320CV1138156single nucleotide variantNM_020320.5(RARS2):c.1401C>T (p.His467=)not provided [RCV001488052]likely benign68751864487518644Humanname
127320734CV1138157single nucleotide variantNM_020320.5(RARS2):c.1377A>G (p.Thr459=)not provided [RCV001484335]likely benign68751866887518668Humanname
127326468CV1138158single nucleotide variantNM_020320.5(RARS2):c.1296C>T (p.Leu432=)not provided [RCV001506317]likely benign68751883387518833Humanname
127287466CV1138159single nucleotide variantNM_020320.5(RARS2):c.1281C>T (p.Val427=)not provided [RCV001494928]likely benign68751884887518848Humanname
127330385CV1138160single nucleotide variantNM_020320.5(RARS2):c.1143G>A (p.Gln381=)not provided [RCV001488127]likely benign68751967787519677Humanname
150437074CV1200921single nucleotide variantNM_020320.5(RARS2):c.1077A>G (p.Gln359=)not provided [RCV001583001]likely benign68752021587520215Humanname
150489359CV1208423single nucleotide variantNM_002887.4(RARS1):c.220A>G (p.Ile74Val)Inborn genetic diseases [RCV004039518]|not provided [RCV001592283]uncertain significance5168492698168492698Human1name
150544807CV1315255single nucleotide variantNM_002887.4(RARS1):c.104T>G (p.Leu35Ter)Hypomyelinating leukodystrophy 9 [RCV001783669]likely pathogenic5168488660168488660Humanname
151232938CV1317670single nucleotide variantNM_002887.4(RARS1):c.208A>G (p.Thr70Ala)Inborn genetic diseases [RCV005262536]|not provided [RCV001787436]likely benign|uncertain significance5168492686168492686Human1name
151352241CV1322327single nucleotide variantNM_002887.4(RARS1):c.175C>T (p.Arg59Ter)not provided [RCV001806950]likely pathogenic5168488731168488731Humanname
8660492CV135540single nucleotide variantNM_020320.5(RARS2):c.155A>T (p.Lys52Ile)Pontocerebellar hypoplasia type 6 [RCV000388565]|not provided [RCV000676835]|not specified [RCV000118122]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance68756418887564188Human1name
8660493CV135541single nucleotide variantNM_020320.5(RARS2):c.1704A>G (p.Lys568=)Congenital disorder of glycosylation [RCV000272477]|Pontocerebellar hypoplasia type 6 [RCV001159447]|Pontoneocerebellar hypoplasia [RCV000334377]|not provided [RCV000676829]|not specified [RCV000118123]benign|likely benign68751444687514446Human4name
151762361CV1393590duplicationNM_020320.5(RARS2):c.940dup (p.Met314fs)not provided [RCV001949299]pathogenic68752459087524591Humanname
151721391CV1421021single nucleotide variantNM_020320.5(RARS2):c.136G>T (p.Val46Leu)not provided [RCV002040133]uncertain significance68756420787564207Humanname
151873361CV1470167deletionNM_020320.5(RARS2):c.996del (p.Arg333fs)not provided [RCV001885556]pathogenic68752150387521503Humanname
152159076CV1521908single nucleotide variantNM_020320.5(RARS2):c.1470A>G (p.Leu490=)not provided [RCV002180602]likely benign68751821087518210Humanname
152051716CV1538794single nucleotide variantNM_020320.5(RARS2):c.1674T>C (p.Ala558=)not provided [RCV002189492]likely benign68751447687514476Humanname
152158161CV1541934single nucleotide variantNM_020320.5(RARS2):c.1458C>T (p.Asn486=)not provided [RCV002103272]likely benign68751822287518222Humanname
152105271CV1572449single nucleotide variantNM_020320.5(RARS2):c.1615C>T (p.Leu539=)not provided [RCV002152317]likely benign68751499287514992Humanname
152025680CV1586478single nucleotide variantNM_020320.5(RARS2):c.1284G>A (p.Gly428=)not provided [RCV002184901]likely benign68751884587518845Humanname
152164916CV1595678single nucleotide variantNM_020320.5(RARS2):c.1308C>T (p.Asp436=)not provided [RCV002204133]likely benign68751873787518737Humanname
152078768CV1602186single nucleotide variantNM_020320.5(RARS2):c.1164A>G (p.Gly388=)not provided [RCV002149031]likely benign68751965687519656Humanname
152048541CV1623007single nucleotide variantNM_020320.5(RARS2):c.1203A>G (p.Gln401=)not provided [RCV002126941]likely benign68751961787519617Humanname
152032621CV1629468single nucleotide variantNM_020320.5(RARS2):c.1464T>C (p.Ala488=)not provided [RCV002106402]likely benign68751821687518216Humanname
152156863CV1630444single nucleotide variantNM_020320.5(RARS2):c.1215A>C (p.Leu405=)not provided [RCV002122539]likely benign68751960587519605Humanname
152126664CV1641957single nucleotide variantNM_020320.5(RARS2):c.1387C>T (p.Leu463=)not provided [RCV002176262]likely benign68751865887518658Humanname
152047246CV1656734single nucleotide variantNM_020320.5(RARS2):c.1260A>T (p.Pro420=)not provided [RCV002126791]likely benign68751886987518869Humanname
152164051CV1662569single nucleotide variantNM_020320.5(RARS2):c.1213C>T (p.Leu405=)not provided [RCV002141441]likely benign68751960787519607Humanname
152978249CV1672313single nucleotide variantNM_002887.4(RARS1):c.272C>T (p.Ala91Val)Hypomyelinating leukodystrophy 9 [RCV002471260]|not provided [RCV002236518]uncertain significance5168492750168492750Human1name
152983700CV1672323duplicationNM_002887.4(RARS1):c.825dup (p.Ser276fs)not provided [RCV002238053]pathogenic|conflicting interpretations of pathogenicity5168500591168500592Humanname
152983703CV1672330single nucleotide variantNM_002887.4(RARS1):c.1165C>T (p.Leu389=)not provided [RCV002238056]likely benign5168506128168506128Humanname
152983705CV1672332single nucleotide variantNM_002887.4(RARS1):c.1200A>G (p.Lys400=)not provided [RCV002238058]likely benign5168506163168506163Humanname
152983708CV1672335single nucleotide variantNM_002887.4(RARS1):c.1251G>A (p.Gln417=)not provided [RCV002238061]likely benign5168506736168506736Humanname
152983715CV1672344single nucleotide variantNM_002887.4(RARS1):c.1500T>C (p.Tyr500=)not provided [RCV002238068]likely benign5168516825168516825Humanname
152983716CV1672345single nucleotide variantNM_002887.4(RARS1):c.1536G>T (p.Arg512=)not provided [RCV002238069]likely benign5168516861168516861Humanname
155645851CV1709207single nucleotide variantNM_020320.5(RARS2):c.212A>G (p.Lys71Arg)not provided [RCV002292083]uncertain significance68756413187564131Humanname
156025053CV1896112duplicationNM_020320.5(RARS2):c.839dup (p.Leu280fs)Pontocerebellar hypoplasia type 6 [RCV005045286]|not provided [RCV003100387]pathogenic|likely pathogenic68752958087529581Human1name
156356601CV1901106single nucleotide variantNM_002887.4(RARS1):c.1557C>T (p.Ser519=)not provided [RCV002602208]likely benign5168516882168516882Humanname
156412489CV1904459single nucleotide variantNM_002887.4(RARS1):c.1911A>G (p.Leu637=)not provided [RCV002587837]likely benign5168519118168519118Humanname
156027134CV1913890single nucleotide variantNM_002887.4(RARS1):c.1266T>C (p.Ala422=)not provided [RCV002619683]likely benign5168506751168506751Humanname
156416864CV1970062single nucleotide variantNM_020320.5(RARS2):c.162T>A (p.Asn54Lys)not provided [RCV002589915]uncertain significance68756418187564181Humanname
156038607CV2052652single nucleotide variantNM_020320.5(RARS2):c.1554C>T (p.Pro518=)not provided [RCV002796350]likely benign68751683887516838Humanname
156257289CV2056891single nucleotide variantNM_020320.5(RARS2):c.1722T>A (p.Pro574=)not provided [RCV002791895]likely benign68751442887514428Humanname
155956485CV2087012deletionNM_020320.5(RARS2):c.638del (p.Ala213fs)not provided [RCV002862632]pathogenic68753091787530917Humanname
156186365CV2098806single nucleotide variantNM_002887.4(RARS1):c.1194G>A (p.Glu398=)not provided [RCV002917309]likely benign5168506157168506157Humanname
10411075CV211279duplicationNM_020320.5(RARS2):c.898dup (p.Asp300fs)Pontocerebellar hypoplasia type 6 [RCV004567404]|not provided [RCV000199506]pathogenic|likely pathogenic68752463287524633Human1name
10410307CV211290single nucleotide variantNM_020320.5(RARS2):c.196A>G (p.Lys66Glu)not specified [RCV000197915]likely benign68756414787564147Humanname
10411103CV211291single nucleotide variantNM_020320.5(RARS2):c.155A>G (p.Lys52Arg)not specified [RCV000199562]likely benign68756418887564188Humanname
10411523CV211292single nucleotide variantNM_020320.5(RARS2):c.152A>G (p.Glu51Gly)Pontocerebellar hypoplasia type 6 [RCV001273019]|not provided [RCV000200441]likely pathogenic|uncertain significance68756419187564191Human1name
155903147CV2127083single nucleotide variantNM_020320.5(RARS2):c.1281C>G (p.Val427=)not provided [RCV002967543]likely benign68751884887518848Humanname
156212228CV2127802single nucleotide variantNM_020320.5(RARS2):c.259A>T (p.Thr87Ser)not provided [RCV002957793]uncertain significance68756274087562740Humanname
156071407CV2172639single nucleotide variantNM_020320.5(RARS2):c.1713A>C (p.Gly571=)not provided [RCV003053727]likely benign68751443787514437Humanname
156122212CV2175002single nucleotide variantNM_020320.5(RARS2):c.1248A>G (p.Glu416=)not provided [RCV003055512]likely benign68751888187518881Humanname
156173591CV2188338single nucleotide variantNM_002887.4(RARS1):c.1429T>C (p.Leu477=)not provided [RCV003041110]likely benign5168510663168510663Humanname
156155886CV2190842single nucleotide variantNM_002887.4(RARS1):c.257A>G (p.His86Arg)not provided [RCV003040528]uncertain significance5168492735168492735Humanname
329349813CV2421597single nucleotide variantNM_020320.5(RARS2):c.122A>G (p.Asp41Gly)Pontocerebellar hypoplasia type 6 [RCV003159087]uncertain significance68756422187564221Human1name
401918257CV2825532single nucleotide variantNM_002887.4(RARS1):c.1149C>A (p.Thr383=)not provided [RCV003429979]likely benign5168506112168506112Humanname
401943913CV2833267deletionNM_020320.5(RARS2):c.998del (p.Arg333fs)Pontocerebellar hypoplasia type 6 [RCV003463463]likely pathogenic68752150187521501Human1name
401943931CV2833281deletionNM_020320.5(RARS2):c.795del (p.Glu265fs)Pontocerebellar hypoplasia type 6 [RCV003463468]pathogenic68752962587529625Human1name
401943943CV2833286deletionNM_020320.5(RARS2):c.617del (p.Tyr206fs)Pontocerebellar hypoplasia type 6 [RCV003463472]likely pathogenic68753093887530938Human1name
401947984CV2833301deletionNM_020320.5(RARS2):c.333del (p.Lys111fs)Pontocerebellar hypoplasia type 6 [RCV003471811]likely pathogenic68755547087555470Human1name
401944770CV2840591single nucleotide variantNM_020320.5(RARS2):c.185A>T (p.Gln62Leu)not provided [RCV003457477]uncertain significance68756415887564158Humanname
402477445CV2853763deletionNM_020320.5(RARS2):c.349del (p.Glu117fs)not provided [RCV003543611]pathogenic68755545487555454Humanname
405176449CV2864568single nucleotide variantNM_020320.5(RARS2):c.1272A>T (p.Ala424=)not provided [RCV003542716]likely benign68751885787518857Humanname
405020884CV2866418deletionNM_020320.5(RARS2):c.914del (p.Gly305fs)not provided [RCV003577567]pathogenic68752461787524617Humanname
405175231CV2915546duplicationNM_020320.5(RARS2):c.958dup (p.Ser320fs)not provided [RCV003563478]pathogenic68752457287524573Humanname
402496435CV2942842single nucleotide variantNM_020320.5(RARS2):c.253C>T (p.Gln85Ter)not provided [RCV003661177]pathogenic|likely pathogenic68756274687562746Humanname
402501636CV2943765single nucleotide variantNM_020320.5(RARS2):c.170C>G (p.Ser57Ter)Pontocerebellar hypoplasia type 6 [RCV004574151]|not provided [RCV003661672]pathogenic|likely pathogenic68756417387564173Human1name
402489986CV2948936single nucleotide variantNM_020320.5(RARS2):c.190C>T (p.Gln64Ter)not provided [RCV003660455]pathogenic68756415387564153Humanname
405156723CV2960910single nucleotide variantNM_020320.5(RARS2):c.1155T>C (p.Thr385=)not provided [RCV003670437]likely benign68751966587519665Humanname
405196126CV2965928single nucleotide variantNM_020320.5(RARS2):c.1299T>C (p.Ile433=)not provided [RCV003677575]likely benign68751883087518830Humanname
405242862CV2967376single nucleotide variantNM_020320.5(RARS2):c.1413C>T (p.His471=)not provided [RCV003684392]likely benign68751863287518632Humanname
405198543CV2972986single nucleotide variantNM_020320.5(RARS2):c.1260A>G (p.Pro420=)not provided [RCV003677874]likely benign68751886987518869Humanname
405213662CV2984993single nucleotide variantNM_020320.5(RARS2):c.1410C>T (p.Leu470=)not provided [RCV003709011]likely benign68751863587518635Humanname
404996852CV2992604single nucleotide variantNM_020320.5(RARS2):c.1554C>G (p.Pro518=)not provided [RCV003692782]likely benign68751683887516838Humanname
402520569CV3000222duplicationNM_020320.5(RARS2):c.524dup (p.Met176fs)not provided [RCV003716330]pathogenic68754562687545627Humanname
404980707CV3006198deletionNM_020320.5(RARS2):c.459del (p.Phe153fs)not provided [RCV003691189]pathogenic68754569287545692Humanname
405078223CV3008131single nucleotide variantNM_020320.5(RARS2):c.1539T>G (p.Ser513=)not provided [RCV003716852]likely benign68751685387516853Humanname
405205013CV3033627single nucleotide variantNM_020320.5(RARS2):c.1569T>C (p.Ser523=)not provided [RCV003707891]likely benign68751682387516823Humanname
402486196CV3033928single nucleotide variantNM_020320.5(RARS2):c.1686C>T (p.Val562=)not provided [RCV003713318]likely benign68751446487514464Humanname
402482098CV3041719single nucleotide variantNM_020320.5(RARS2):c.1374C>T (p.Asp458=)not provided [RCV003712958]likely benign68751867187518671Humanname
11602700CV309012single nucleotide variantNM_020320.5(RARS2):c.245G>A (p.Ser82Asn)Pontocerebellar hypoplasia type 6 [RCV000292981]|not provided [RCV000941300]likely benign|uncertain significance68756275487562754Human1name
405048971CV3150813single nucleotide variantNM_020320.5(RARS2):c.149T>C (p.Leu50Ser)not provided [RCV003849417]uncertain significance68756419487564194Humanname
405185166CV3160111single nucleotide variantNM_020320.5(RARS2):c.127C>T (p.Gln43Ter)not provided [RCV003859166]pathogenic68756421687564216Humanname
402469225CV3174703single nucleotide variantNM_020320.5(RARS2):c.1128C>G (p.Pro376=)not provided [RCV003873813]likely benign68751969287519692Humanname
405659447CV3312213single nucleotide variantNM_002887.4(RARS1):c.101G>T (p.Cys34Phe)Inborn genetic diseases [RCV004438533]uncertain significance5168488657168488657Human1name
405659471CV3312219single nucleotide variantNM_002887.4(RARS1):c.235C>T (p.Arg79Cys)Inborn genetic diseases [RCV004438539]uncertain significance5168492713168492713Human1name
405867786CV3396605single nucleotide variantNM_020320.5(RARS2):c.124T>A (p.Phe42Ile)Pontocerebellar hypoplasia type 6 [RCV004560476]|not provided [RCV004767570]uncertain significance68756421987564219Human1name
596931222CV3531555single nucleotide variantNM_002887.4(RARS1):c.242A>G (p.Gln81Arg)not provided [RCV004781117]uncertain significance5168492720168492720Humanname
596942261CV3544038deletionNM_002887.4(RARS1):c.999del (p.Glu335fs)Hypomyelinating leukodystrophy 9 [RCV004800028]pathogenic5168502047168502047Human1name
597707993CV3592932single nucleotide variantNM_020320.5(RARS2):c.1035G>A (p.Val345=)Inborn genetic diseases [RCV004957612]uncertain significance68752146487521464Human1name
12838440CV368373single nucleotide variantNM_002887.4(RARS1):c.1410A>T (p.Leu470=)not provided [RCV000946897]|not specified [RCV000426970]benign|likely benign5168510644168510644Humanname
12836807CV368381single nucleotide variantNM_002887.4(RARS1):c.1497G>A (p.Ala499=)Hypomyelinating leukodystrophy 9 [RCV001796040]|not provided [RCV001511712]|not specified [RCV000424065]benign5168516822168516822Human1name
12841397CV368382single nucleotide variantNM_002887.4(RARS1):c.1917A>G (p.Glu639=)not provided [RCV001704527]benign|likely benign5168519124168519124Humanname
12841232CV368530single nucleotide variantNM_002887.4(RARS1):c.1368G>A (p.Ser456=)not provided [RCV001521047]|not specified [RCV000432208]benign5168510602168510602Humanname
12835518CV368549single nucleotide variantNM_002887.4(RARS1):c.1428G>A (p.Lys476=)not specified [RCV000421815]likely benign5168510662168510662Humanname
12841093CV368778single nucleotide variantNM_020320.5(RARS2):c.1263A>G (p.Gln421=)not provided [RCV001461037]|not specified [RCV000431971]likely benign68751886687518866Humanname
12844953CV369736single nucleotide variantNM_002887.4(RARS1):c.1092A>G (p.Val364=)not provided [RCV001513708]|not specified [RCV000438930]benign5168506055168506055Humanname
12833306CV369743single nucleotide variantNM_002887.4(RARS1):c.1188A>G (p.Leu396=)not provided [RCV001513709]|not specified [RCV000418252]benign5168506151168506151Humanname
597904856CV3742023single nucleotide variantNM_002887.4(RARS1):c.160C>T (p.Arg54Ter)not provided [RCV005072807]pathogenic5168488716168488716Humanname
597962422CV3753700single nucleotide variantNM_020320.5(RARS2):c.1575T>C (p.Leu525=)not provided [RCV005082004]likely benign68751681787516817Humanname
597893062CV3763419single nucleotide variantNM_020320.5(RARS2):c.295A>G (p.Lys99Glu)not provided [RCV005110999]uncertain significance68756270487562704Humanname
597959284CV3797526single nucleotide variantNM_002887.4(RARS1):c.1740G>A (p.Arg580=)not provided [RCV005138213]likely benign5168517929168517929Humanname
597949984CV3818886single nucleotide variantNM_020320.5(RARS2):c.1473A>G (p.Gln491=)not provided [RCV005160956]uncertain significance68751820787518207Humanname
597970130CV3821952single nucleotide variantNM_002887.4(RARS1):c.1704T>C (p.His568=)not provided [RCV005166415]likely benign5168517893168517893Humanname
597863861CV3823065single nucleotide variantNM_020320.5(RARS2):c.1071A>G (p.Val357=)not provided [RCV005175415]likely benign68752022187520221Humanname
597836195CV3828381single nucleotide variantNM_002887.4(RARS1):c.1134A>C (p.Ser378=)not provided [RCV005171273]likely benign5168506097168506097Humanname
598203529CV3896495deletionNM_002887.4(RARS1):c.639del (p.Arg213fs)Hypomyelinating leukodystrophy 9 [RCV005356730]likely pathogenic5168495373168495373Human1name
617152619CV4020837single nucleotide variantNM_020320.5(RARS2):c.265A>C (p.Asn89His)not provided [RCV005428590]uncertain significance68756273487562734Humanname
13215227CV428634deletionNM_020320.5(RARS2):c.370del (p.Gln124fs)Pontocerebellar hypoplasia type 6 [RCV000502246]likely pathogenic68755543387555433Human1name
13535213CV501095single nucleotide variantNM_002887.4(RARS1):c.1650T>C (p.Ile550=)not provided [RCV002232737]|not specified [RCV000607613]likely benign5168517839168517839Humanname
13531691CV501482single nucleotide variantNM_020320.5(RARS2):c.1287C>T (p.Leu429=)not provided [RCV001431017]|not specified [RCV000606558]likely benign68751884287518842Humanname
13794657CV552109single nucleotide variantNM_020320.5(RARS2):c.214C>G (p.Leu72Val)Pontocerebellar hypoplasia type 6 [RCV000680081]uncertain significance68756278587562785Human1name
15116109CV692076single nucleotide variantNM_020320.5(RARS2):c.1518C>T (p.Asp506=)Pontocerebellar hypoplasia type 6 [RCV001273123]|not provided [RCV000873266]likely benign|uncertain significance68751687487516874Human1name
15202891CV699006single nucleotide variantNM_002887.4(RARS1):c.1494T>G (p.Val498=)not provided [RCV000958093]likely benign5168516819168516819Humanname
15156878CV750271single nucleotide variantNM_020320.5(RARS2):c.1692C>G (p.Ala564=)Pontocerebellar hypoplasia type 6 [RCV001273121]|not provided [RCV000924752]likely benign|uncertain significance68751445887514458Human1name
15134195CV765902single nucleotide variantNM_020320.5(RARS2):c.1563C>T (p.Ile521=)not provided [RCV000942703]likely benign68751682987516829Humanname
15184830CV765903single nucleotide variantNM_020320.5(RARS2):c.1170C>T (p.Val390=)Pontocerebellar hypoplasia type 6 [RCV001273017]|not provided [RCV000930898]likely benign68751965087519650Human1name
15100924CV765904single nucleotide variantNM_020320.5(RARS2):c.1152G>A (p.Lys384=)not provided [RCV000936704]likely benign68751966887519668Humanname
15128019CV765905single nucleotide variantNM_020320.5(RARS2):c.1122C>T (p.His374=)not provided [RCV000941644]likely benign68751969887519698Humanname
15145780CV782680single nucleotide variantNM_020320.5(RARS2):c.1736A>G (p.Ter579=)not provided [RCV000983726]likely benign68751441487514414Humanname
15127165CV782681single nucleotide variantNM_020320.5(RARS2):c.1635T>A (p.Pro545=)not provided [RCV000980500]likely benign68751497287514972Humanname
15110267CV782682single nucleotide variantNM_020320.5(RARS2):c.1545C>T (p.Asp515=)not provided [RCV000977403]likely benign68751684787516847Humanname
15114367CV782683single nucleotide variantNM_020320.5(RARS2):c.1095A>T (p.Gly365=)not provided [RCV000978205]likely benign68752019787520197Humanname
21069168CV795672single nucleotide variantNM_002887.4(RARS1):c.1665C>G (p.Leu555=)not provided [RCV000998489]uncertain significance5168517854168517854Humanname
40904945CV978369single nucleotide variantNM_020320.5(RARS2):c.262G>A (p.Val88Ile)Pontocerebellar hypoplasia type 6 [RCV001278031]uncertain significance68756273787562737Human1name
40904946CV978370single nucleotide variantNM_020320.5(RARS2):c.110A>G (p.Glu37Gly)Pontocerebellar hypoplasia type 6 [RCV001278032]uncertain significance68756951787569517Human1name
8660497CV135545single nucleotide variantNM_020320.5(RARS2):c.872A>G (p.Lys291Arg)Pontocerebellar hypoplasia type 6 [RCV000328822]|not provided [RCV000676831]|not specified [RCV000118127]benign|likely benign68752954887529548Human1name
8660498CV135546single nucleotide variantNM_020320.5(RARS2):c.991A>G (p.Ile331Val)Pontocerebellar hypoplasia type 6 [RCV000399916]|not provided [RCV000676830]|not specified [RCV000118128]benign|likely benign68752150887521508Human1name
9686567CV171798microsatelliteNM_002887.4(RARS1):c.96_97del (p.Cys32fs)Hypomyelinating leukodystrophy 9 [RCV000149500]pathogenic5168488650168488651Humanname
405659501CV3312227single nucleotide variantNM_002887.4(RARS1):c.657G>T (p.Glu219Asp)Inborn genetic diseases [RCV004438547]uncertain significance5168495392168495392Human1name
405871442CV3399264single nucleotide variantNM_020320.5(RARS2):c.529C>T (p.Gln177Ter)Pontocerebellar hypoplasia type 6 [RCV004574695]likely pathogenic68754562287545622Human1name
405871165CV3399265deletionNM_020320.5(RARS2):c.1522del (p.Val508fs)Pontocerebellar hypoplasia type 6 [RCV004574696]likely pathogenic68751687087516870Human1name
405871170CV3399268single nucleotide variantNM_020320.5(RARS2):c.740T>A (p.Leu247Ter)Pontocerebellar hypoplasia type 6 [RCV004574699]likely pathogenic68753081587530815Human1name
405871172CV3399269single nucleotide variantNM_020320.5(RARS2):c.475G>T (p.Glu159Ter)Pontocerebellar hypoplasia type 6 [RCV004574700]likely pathogenic68754567687545676Human1name
407428164CV3412365single nucleotide variantNM_020320.5(RARS2):c.733C>T (p.Arg245Trp)Pontocerebellar hypoplasia type 6 [RCV004787138]|not provided [RCV004593533]likely pathogenic|uncertain significance68753082287530822Human1name
407466696CV3472418single nucleotide variantNM_002887.4(RARS1):c.689A>G (p.Tyr230Cys)Inborn genetic diseases [RCV004660533]uncertain significance5168495424168495424Human1name
407466700CV3472419single nucleotide variantNM_002887.4(RARS1):c.796A>G (p.Ile266Val)Inborn genetic diseases [RCV004660534]|not provided [RCV005103397]uncertain significance5168497322168497322Human1name
407466703CV3472421single nucleotide variantNM_002887.4(RARS1):c.634C>G (p.Leu212Val)Inborn genetic diseases [RCV004660535]uncertain significance5168495369168495369Human1name
407500662CV3472422single nucleotide variantNM_020320.5(RARS2):c.655G>A (p.Val219Ile)Inborn genetic diseases [RCV004669604]likely benign68753090087530900Human1name
407574435CV3499446single nucleotide variantNM_020320.5(RARS2):c.761G>A (p.Arg254Gln)not provided [RCV004719440]uncertain significance68753079487530794Humanname
408388775CV3522771single nucleotide variantNM_002887.4(RARS1):c.694G>A (p.Val232Met)Inborn genetic diseases [RCV005264563]|not provided [RCV004769152]uncertain significance5168495429168495429Human1name
408382083CV3523995single nucleotide variantNM_020320.5(RARS2):c.437G>A (p.Arg146His)not provided [RCV004766393]uncertain significance68754860587548605Humanname
408383830CV3525862single nucleotide variantNM_020320.5(RARS2):c.760C>T (p.Arg254Trp)not specified [RCV004766772]uncertain significance68753079587530795Humanname
408384126CV3525919single nucleotide variantNM_020320.5(RARS2):c.601C>G (p.His201Asp)not specified [RCV004766829]uncertain significance68754192987541929Humanname
408394076CV3526336single nucleotide variantNM_020320.5(RARS2):c.602A>G (p.His201Arg)Pontocerebellar hypoplasia type 6 [RCV004771768]uncertain significance68754192887541928Human1name
596924393CV3532248single nucleotide variantNM_002887.4(RARS1):c.675T>G (p.Phe225Leu)not provided [RCV004777359]uncertain significance5168495410168495410Humanname
596928306CV3540168duplicationNM_002887.4(RARS1):c.1579dup (p.Arg527fs)not provided [RCV004791161]likely pathogenic5168516903168516904Humanname
597650090CV3551861single nucleotide variantNM_020320.5(RARS2):c.431A>T (p.His144Leu)not provided [RCV004820574]uncertain significance68754861187548611Humanname
597685934CV3718696deletionNM_020320.5(RARS2):c.1548del (p.Gln517fs)Pontocerebellar hypoplasia type 6 [RCV005045868]likely pathogenic68751684487516844Human1name
597685962CV3718700duplicationNM_020320.5(RARS2):c.1325dup (p.Leu442fs)Pontocerebellar hypoplasia type 6 [RCV005045871]likely pathogenic68751871987518720Human1name
616935123CV4009327single nucleotide variantNM_002887.4(RARS1):c.710A>G (p.His237Arg)not provided [RCV005402499]uncertain significance5168497236168497236Humanname
617150475CV4018978single nucleotide variantNM_020320.5(RARS2):c.695T>C (p.Leu232Pro)not provided [RCV005423386]uncertain significance68753086087530860Humanname
40904943CV978367single nucleotide variantNM_020320.5(RARS2):c.709G>A (p.Ala237Thr)Inborn genetic diseases [RCV002541671]|Pontocerebellar hypoplasia type 6 [RCV001278029]uncertain significance68753084687530846Human2name
40904944CV978368single nucleotide variantNM_020320.5(RARS2):c.637G>A (p.Ala213Thr)Pontocerebellar hypoplasia type 6 [RCV001278030]uncertain significance68753091887530918Human1name
41408069CV980693single nucleotide variantNM_020320.5(RARS2):c.901C>T (p.Leu301Phe)Pontocerebellar hypoplasia type 6 [RCV004799575]|not provided [RCV002537914]uncertain significance68752463087524630Human1name