Mars Variant Search Result - Rat Genome Database

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1001 records found for search term Mars

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
126733519	CV1021090	single nucleotide variant	NM_004990.4(MARS1):c.1294-19C>G	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV001334345]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002546680]	likely benign\|uncertain significance	12	57504206	57504206	Human	2	name , trait
150448117	CV1161969	single nucleotide variant	NM_004990.4(MARS1):c.1793G>A (p.Arg598His)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV001647326]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002241368]	likely pathogenic\|uncertain significance	12	57512790	57512790	Human	2	trait
9586995	CV165834	single nucleotide variant	NM_004990.4(MARS1):c.1852C>T (p.Arg618Cys)	Charcot-Marie-Tooth disease [RCV000192267]\|Charcot-Marie-Tooth disease axonal type 2U [RCV000144083]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV000677354]\|Severe early-onset pulmonary alveolar proteinosis due to MARS ... (more) t-weight:700;'>MARS deficiency [RCV002512554]\|not provided [RCV000478608]\|not specified [RCV003993825]	pathogenic\|likely pathogenic\|uncertain significance	12	57512849	57512849	Human	3	trait
10047431	CV187251	single nucleotide variant	NC_000012.11:g.57892346A>G	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV000172999]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003765082]	pathogenic\|uncertain significance	12	57498563	57498563	Human	2	trait
13489638	CV445060	single nucleotide variant	NM_004990.4(MARS1):c.854T>C (p.Ile285Thr)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002231212]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV004771477]\|not provided [RCV000523955]	uncertain significance	12	57498240	57498240	Human	2	trait
13475929	CV463228	single nucleotide variant	NM_004990.4(MARS1):c.365C>A (p.Thr122Asn)	See cases [RCV002245011]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV000554258]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003446155]\|not provided [RCV003133 ... (more) 353]	uncertain significance	12	57489509	57489509	Human	2	trait
14393721	CV609853	single nucleotide variant	NM_004990.4(MARS1):c.631G>A (p.Ala211Thr)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV001254627]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002533788]\|not provided [RCV000756321]\|not specified [RCV00 ... (more) 4027124]	uncertain significance	12	57490347	57490347	Human	2	trait
21069903	CV791264	single nucleotide variant	NM_004990.4(MARS1):c.1244G>T (p.Gly415Val)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV000988866]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002236000]	uncertain significance	12	57500473	57500473	Human	2	trait
8624249	CV79355	single nucleotide variant	NM_004990.4(MARS1):c.1108T>C (p.Phe370Leu)	Charcot-Marie-Tooth disease [RCV001173433]\|MARS-related disorder [RCV000709860]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV000059332]\|Severe early-onset pulmonary alveolar proteinosis due to ... (more) MARS deficiency [RCV002514303]\|not provided [RCV000521595]\|not specified [RCV004019069]	pathogenic\|likely pathogenic\|uncertain significance\|not provided	12	57500337	57500337	Human	3	trait
8573600	CV79356	single nucleotide variant	NM_004990.4(MARS1):c.1568T>C (p.Ile523Thr)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV000059333]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005213203]	pathogenic\|uncertain significance	12	57512036	57512036	Human	2	trait
38597375	CV965224	single nucleotide variant	NM_004990.4(MARS1):c.2390C>T (p.Thr797Ile)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV001254626]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV001364651]\|not specified [RCV004035338]	likely benign\|uncertain significance	12	57515335	57515335	Human	2	trait
405279499	CV3217478	single nucleotide variant	NM_138395.4(MARS2):c.-3A>G	MARS2-related disorder [RCV003976882]	likely benign	2	197705403	197705403	Human		name , trait , alternate_id
150460817	CV1275876	single nucleotide variant	NM_138395.4(MARS2):c.-26T>G	not provided [RCV001709814]	benign	2	197705380	197705380	Human		name
13467350	CV411579	single nucleotide variant	NM_004990.4(MARS1):c.-18C>T	Hereditary spastic paraplegia [RCV000516038]\|not provided [RCV004691787]\|not specified [RCV005239077]	uncertain significance	12	57488073	57488073	Human	1	name
127300869	CV1157010	deletion	NM_004990.4(MARS1):c.415-5del	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV001514418]	benign	12	57489891	57489891	Human	2	name
152984747	CV1673578	single nucleotide variant	NM_004990.4(MARS1):c.110-5A>G	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239185]	likely benign	12	57489014	57489014	Human	2	name
152984750	CV1673581	single nucleotide variant	NM_004990.4(MARS1):c.200+4A>G	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239188]	uncertain significance	12	57489113	57489113	Human	2	name
152984752	CV1673583	single nucleotide variant	NM_004990.4(MARS1):c.201-3C>T	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239190]	uncertain significance	12	57489264	57489264	Human	2	name
152984775	CV1673610	single nucleotide variant	NM_004990.4(MARS1):c.887+5A>G	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239213]	uncertain significance	12	57498278	57498278	Human	2	name
155802559	CV1857557	single nucleotide variant	NM_004990.4(MARS1):c.491-5C>G	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005227777]\|not specified [RCV004067467]	likely benign\|uncertain significance	12	57490202	57490202	Human	2	name
156269366	CV1899304	single nucleotide variant	NM_004990.4(MARS1):c.415-9C>T	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003086725]	likely benign	12	57489887	57489887	Human	2	name
156228782	CV2085106	single nucleotide variant	NM_004990.4(MARS1):c.888-5T>C	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002876154]	likely benign	12	57498415	57498415	Human	2	name
156378905	CV2117801	single nucleotide variant	NM_004990.4(MARS1):c.490+9T>C	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002942984]	likely benign	12	57489980	57489980	Human	2	name
405010944	CV3083389	single nucleotide variant	NM_004990.4(MARS1):c.888-7C>T	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003784336]	likely benign	12	57498413	57498413	Human	2	name
405013260	CV3083757	single nucleotide variant	NM_004990.4(MARS1):c.414+1G>T	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003784550]	uncertain significance	12	57489559	57489559	Human	2	name
405030634	CV3095211	single nucleotide variant	NM_004990.4(MARS1):c.664-5T>C	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003796417]	likely benign	12	57490533	57490533	Human	2	name
405030860	CV3098385	single nucleotide variant	NM_004990.4(MARS1):c.279+5G>A	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003806678]	uncertain significance	12	57489350	57489350	Human	2	name
405164503	CV3110105	single nucleotide variant	NM_004990.4(MARS1):c.663+9T>C	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003802464]	likely benign	12	57490388	57490388	Human	2	name
405260115	CV3186562	single nucleotide variant	NM_004990.4(MARS1):c.887+1G>A	not provided [RCV003884321]	uncertain significance	12	57498274	57498274	Human		name
408366399	CV3507277	single nucleotide variant	NM_004990.4(MARS1):c.771-1G>A	MARS1-related disorder [RCV004756579]	uncertain significance	12	57498156	57498156	Human		name , trait , alternate_id
408394587	CV3521505	single nucleotide variant	NM_004990.4(MARS1):c.280-1G>A	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV004764302]	uncertain significance	12	57489423	57489423	Human	1	name
597909648	CV3870819	single nucleotide variant	NM_004990.4(MARS1):c.887+4G>T	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005221681]	uncertain significance	12	57498277	57498277	Human	2	name
597849278	CV3872937	single nucleotide variant	NM_004990.4(MARS1):c.491-3C>T	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005212574]	uncertain significance	12	57490204	57490204	Human	2	name
597836425	CV3875558	single nucleotide variant	NM_004990.4(MARS1):c.415-5C>T	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005225603]	likely benign	12	57489891	57489891	Human	2	name
597928504	CV3878842	single nucleotide variant	NM_004990.4(MARS1):c.664-5T>A	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005224501]	likely benign	12	57490533	57490533	Human	2	name
597915673	CV3879017	single nucleotide variant	NM_004990.4(MARS1):c.200+4A>T	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005222553]	uncertain significance	12	57489113	57489113	Human	2	name
13472543	CV463104	single nucleotide variant	NM_004990.4(MARS1):c.414+9G>C	MARS1-related disorder [RCV003925707]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV001503150]\|not provided [RCV004704094]	likely benign	12	57489567	57489567	Human	2	name , alternate_id
13472512	CV463108	single nucleotide variant	NM_004990.4(MARS1):c.663+8A>C	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV000532347]	likely benign	12	57490387	57490387	Human	2	name
13539442	CV504562	single nucleotide variant	NM_004990.4(MARS1):c.415-5C>A	Charcot-Marie-Tooth disease [RCV001174274]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV000946122]\|not provided [RCV001697533]	likely benign	12	57489891	57489891	Human	3	name
15143485	CV695577	single nucleotide variant	NM_004990.4(MARS1):c.110-5A>C	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV001476823]	likely benign	12	57489014	57489014	Human	2	name
15125854	CV695578	single nucleotide variant	NM_004990.4(MARS1):c.491-5C>A	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002235932]	likely benign	12	57490202	57490202	Human	2	name
15201316	CV775914	single nucleotide variant	NM_004990.4(MARS1):c.201-7T>G	not provided [RCV000935629]	likely benign	12	57489260	57489260	Human		name
34890180	CV905672	single nucleotide variant	NM_004990.4(MARS1):c.414+8G>A	Charcot-Marie-Tooth disease [RCV001173660]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002240748]	likely benign	12	57489566	57489566	Human	3	name
38485919	CV941038	single nucleotide variant	NM_004990.4(MARS1):c.415-5C>G	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV001220067]	uncertain significance	12	57489891	57489891	Human	2	name
126760664	CV1031059	single nucleotide variant	NM_004990.4(MARS1):c.1636-7C>G	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV001340469]	likely benign\|uncertain significance	12	57512229	57512229	Human	2	name
150479951	CV1239476	single nucleotide variant	NM_004990.4(MARS1):c.490+47G>A	not provided [RCV001652639]	benign	12	57490018	57490018	Human		name
150501234	CV1284195	single nucleotide variant	NM_004990.4(MARS1):c.110-26T>A	not provided [RCV001718560]	benign	12	57488993	57488993	Human		name
152984746	CV1673577	single nucleotide variant	NM_004990.4(MARS1):c.110-13A>T	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239184]	likely benign	12	57489006	57489006	Human	2	name
152984751	CV1673582	single nucleotide variant	NM_004990.4(MARS1):c.201-13T>C	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239189]	likely benign	12	57489254	57489254	Human	2	name
152985048	CV1673588	single nucleotide variant	NM_004990.4(MARS1):c.279+18G>A	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239685]	likely benign	12	57489363	57489363	Human	2	name
152984765	CV1673597	single nucleotide variant	NM_004990.4(MARS1):c.490+20C>T	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239203]	benign	12	57489991	57489991	Human	2	name
152984766	CV1673598	single nucleotide variant	NM_004990.4(MARS1):c.491-10A>T	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239204]	likely benign	12	57490197	57490197	Human	2	name
152984770	CV1673605	single nucleotide variant	NM_004990.4(MARS1):c.771-13C>G	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239208]	likely benign	12	57498144	57498144	Human	2	name
152985052	CV1673611	single nucleotide variant	NM_004990.4(MARS1):c.887+12T>G	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239689]	likely benign	12	57498285	57498285	Human	2	name
152985053	CV1673612	single nucleotide variant	NM_004990.4(MARS1):c.887+16C>G	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239690]	likely benign	12	57498289	57498289	Human	2	name
152985054	CV1673613	single nucleotide variant	NM_004990.4(MARS1):c.887+16C>T	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239691]	likely benign	12	57498289	57498289	Human	2	name
152984776	CV1673614	single nucleotide variant	NM_004990.4(MARS1):c.888-17A>G	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239214]	likely benign	12	57498403	57498403	Human	2	name
152984783	CV1673621	single nucleotide variant	NM_004990.4(MARS1):c.1091+3A>G	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239221]	uncertain significance	12	57498626	57498626	Human	2	name
152984784	CV1673622	single nucleotide variant	NM_004990.4(MARS1):c.1091+4A>G	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239222]	uncertain significance	12	57498627	57498627	Human	2	name
152984785	CV1673623	single nucleotide variant	NM_004990.4(MARS1):c.1092-6C>T	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239223]	likely benign	12	57500315	57500315	Human	2	name
152984789	CV1673628	single nucleotide variant	NM_004990.4(MARS1):c.1293+5G>A	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239227]\|not specified [RCV003235687]	uncertain significance	12	57500527	57500527	Human	2	name
152984792	CV1673631	single nucleotide variant	NM_004990.4(MARS1):c.1294-5C>G	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239230]	likely benign\|uncertain significance	12	57504220	57504220	Human	2	name
152984816	CV1673659	single nucleotide variant	NM_004990.4(MARS1):c.1754-1G>A	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239254]	uncertain significance	12	57512750	57512750	Human	2	name
152978510	CV1673676	single nucleotide variant	NM_004990.4(MARS1):c.2100-4C>T	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002236562]	likely benign	12	57514950	57514950	Human	2	name
152978525	CV1673682	single nucleotide variant	NM_004990.4(MARS1):c.2204+3A>C	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002236565]	uncertain significance	12	57515061	57515061	Human	2	name
152985073	CV1673706	single nucleotide variant	NM_004990.4(MARS1):c.2557-8T>C	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239710]	likely benign	12	57516427	57516427	Human	2	name
155801954	CV1857039	duplication	NM_004990.4(MARS1):c.2392-5dup	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003775462]\|not specified [RCV004066508]	benign\|uncertain significance	12	57515908	57515909	Human	2	name
155800426	CV1863575	single nucleotide variant	NM_004990.4(MARS1):c.1635+1G>A	not provided [RCV002473998]	uncertain significance	12	57512104	57512104	Human		name
156253221	CV1867979	single nucleotide variant	NM_004990.4(MARS1):c.2204+3A>G	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003060100]	uncertain significance	12	57515061	57515061	Human	2	name
155942133	CV1868947	single nucleotide variant	NM_004990.4(MARS1):c.200+18G>A	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003073613]	likely benign	12	57489127	57489127	Human	2	name
155953406	CV1876484	single nucleotide variant	NM_004990.4(MARS1):c.201-20G>A	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003074280]	likely benign	12	57489247	57489247	Human	2	name
156128334	CV1889225	single nucleotide variant	NM_004990.4(MARS1):c.771-10T>G	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003081731]	likely benign	12	57498147	57498147	Human	2	name
156088963	CV1899159	single nucleotide variant	NM_004990.4(MARS1):c.2556+3A>T	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003080136]	uncertain significance	12	57516340	57516340	Human	2	name
156365578	CV1906205	single nucleotide variant	NM_004990.4(MARS1):c.2204+9G>A	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003092029]	uncertain significance	12	57515067	57515067	Human	2	name
156372568	CV1923735	single nucleotide variant	NM_004990.4(MARS1):c.2099+9C>T	MARS1-related disorder [RCV003906554]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002633532]	likely benign	12	57514860	57514860	Human	2	name , alternate_id
156373303	CV1923819	single nucleotide variant	NM_004990.4(MARS1):c.1968-6A>C	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002633599]	likely benign	12	57514714	57514714	Human	2	name
156151525	CV1929347	single nucleotide variant	NM_004990.4(MARS1):c.490+19A>G	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002624020]	likely benign	12	57489990	57489990	Human	2	name
156305986	CV1930332	single nucleotide variant	NM_004990.4(MARS1):c.1294-4G>A	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002629496]	likely benign	12	57504221	57504221	Human	2	name
156436731	CV1940302	deletion	NM_004990.4(MARS1):c.1539+7del	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003106254]	benign	12	57511871	57511871	Human	2	name
156122613	CV1952804	single nucleotide variant	NM_004990.4(MARS1):c.415-13A>G	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002571924]\|not specified [RCV003491123]	likely benign	12	57489883	57489883	Human	2	name
156415879	CV1966309	single nucleotide variant	NM_004990.4(MARS1):c.1293+9A>C	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002589410]	likely benign	12	57500531	57500531	Human	2	name
156013659	CV2009005	single nucleotide variant	NM_004990.4(MARS1):c.1369-6T>C	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002690650]	likely benign	12	57511692	57511692	Human	2	name
156125783	CV2012380	single nucleotide variant	NM_004990.4(MARS1):c.280-12C>A	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002696214]	likely benign	12	57489412	57489412	Human	2	name
155975436	CV2079478	single nucleotide variant	NM_004990.4(MARS1):c.2204+6T>C	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002881682]	uncertain significance	12	57515064	57515064	Human	2	name
156312745	CV2087509	single nucleotide variant	NM_004990.4(MARS1):c.109+19G>T	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002857761]	likely benign	12	57488218	57488218	Human	2	name
156035100	CV2112767	single nucleotide variant	NM_004990.4(MARS1):c.888-14A>G	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002910234]	likely benign	12	57498406	57498406	Human	2	name
156237588	CV2119207	single nucleotide variant	NM_004990.4(MARS1):c.201-16C>T	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002958751]	likely benign	12	57489251	57489251	Human	2	name
156373901	CV2123901	single nucleotide variant	NM_004990.4(MARS1):c.200+11G>A	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002942549]	likely benign	12	57489120	57489120	Human	2	name
155971134	CV2139744	single nucleotide variant	NM_004990.4(MARS1):c.1635+4A>G	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002995631]	uncertain significance	12	57512107	57512107	Human	2	name
401724915	CV2735793	single nucleotide variant	NM_004990.4(MARS1):c.1635+2T>C	not provided [RCV003312236]	uncertain significance	12	57512105	57512105	Human		name
401932267	CV2807143	single nucleotide variant	NM_004990.4(MARS1):c.1092-6C>G	not provided [RCV003391926]	uncertain significance	12	57500315	57500315	Human		name
405051136	CV3081655	single nucleotide variant	NM_004990.4(MARS1):c.1968-1G>A	not provided [RCV003740615]	uncertain significance	12	57514719	57514719	Human		name
405050326	CV3084588	single nucleotide variant	NM_004990.4(MARS1):c.1092-3C>T	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003797995]	uncertain significance	12	57500318	57500318	Human	2	name
405026128	CV3085194	single nucleotide variant	NM_004990.4(MARS1):c.2556+5G>A	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003796060]	uncertain significance	12	57516342	57516342	Human	2	name
405020091	CV3087980	single nucleotide variant	NM_004990.4(MARS1):c.491-15C>T	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003795540]	likely benign	12	57490192	57490192	Human	2	name
402512602	CV3089372	duplication	NM_004990.4(MARS1):c.2099+6dup	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003780404]	likely benign\|uncertain significance	12	57514856	57514857	Human	2	name
404993874	CV3091569	single nucleotide variant	NM_004990.4(MARS1):c.415-14T>G	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003793044]	likely benign	12	57489882	57489882	Human	2	name
405031879	CV3092695	single nucleotide variant	NM_004990.4(MARS1):c.2464-6C>T	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003786206]	likely benign	12	57516239	57516239	Human	2	name
402499127	CV3092804	single nucleotide variant	NM_004990.4(MARS1):c.663+19C>G	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003788268]	likely benign	12	57490398	57490398	Human	2	name
402499768	CV3092985	single nucleotide variant	NM_004990.4(MARS1):c.1294-6T>C	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003788449]	likely benign	12	57504219	57504219	Human	2	name
404986120	CV3096837	single nucleotide variant	NM_004990.4(MARS1):c.663+14C>T	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003792226]	likely benign	12	57490393	57490393	Human	2	name
405027247	CV3098100	single nucleotide variant	NM_004990.4(MARS1):c.201-14C>G	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003806393]	uncertain significance	12	57489253	57489253	Human	2	name
404978197	CV3098961	single nucleotide variant	NM_004990.4(MARS1):c.2391+1G>C	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003790941]	uncertain significance	12	57515337	57515337	Human	2	name
405076726	CV3100339	single nucleotide variant	NM_004990.4(MARS1):c.279+17G>A	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003799892]	likely benign	12	57489362	57489362	Human	2	name
405014979	CV3106685	single nucleotide variant	NM_004990.4(MARS1):c.2100-1G>A	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003795022]	uncertain significance	12	57514953	57514953	Human	2	name
405111155	CV3110758	single nucleotide variant	NM_004990.4(MARS1):c.414+11T>C	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003813661]	likely benign	12	57489569	57489569	Human	2	name
405155088	CV3111276	single nucleotide variant	NM_004990.4(MARS1):c.770+19T>C	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003801732]	likely benign	12	57490663	57490663	Human	2	name
405108890	CV3112429	single nucleotide variant	NM_004990.4(MARS1):c.2556+4T>A	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003813272]	uncertain significance	12	57516341	57516341	Human	2	name
405038068	CV3114044	single nucleotide variant	NM_004990.4(MARS1):c.1754-6G>A	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003807258]	likely benign	12	57512745	57512745	Human	2	name
405080685	CV3114831	single nucleotide variant	NM_004990.4(MARS1):c.2556+3A>G	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003810394]	uncertain significance	12	57516340	57516340	Human	2	name
12743174	CV361552	single nucleotide variant	NM_004990.4(MARS1):c.1753+7A>G	Charcot-Marie-Tooth disease [RCV001174278]\|MARS1-related disorder [RCV003922682]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV001082355]\|not provided [RCV000416119]\|not specified [RCV000433793 ... (more) ]	benign\|likely benign\|uncertain significance	12	57512360	57512360	Human	3	name , alternate_id
12846663	CV372486	single nucleotide variant	NM_004990.4(MARS1):c.1636-4C>T	not specified [RCV000442065]	likely benign	12	57512232	57512232	Human		name
12846091	CV373173	single nucleotide variant	NM_004990.4(MARS1):c.280-14C>T	Charcot-Marie-Tooth disease [RCV001174279]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002230011]\|not provided [RCV001702644]\|not specified [RCV000441002]	benign\|likely benign	12	57489410	57489410	Human	3	name
12840814	CV373177	single nucleotide variant	NM_004990.4(MARS1):c.1294-5C>T	Charcot-Marie-Tooth disease [RCV001173668]\|MARS1-related disorder [RCV004755917]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV000552049]\|not provided [RCV001721364]\|not specified [RCV004022434 ... (more) ]	benign\|likely benign	12	57504220	57504220	Human	3	name , alternate_id
12841121	CV373198	single nucleotide variant	NM_004990.4(MARS1):c.1540-3C>T	MARS1-related disorder [RCV003392242]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002230049]\|not specified [RCV000432010]	likely benign\|uncertain significance	12	57512005	57512005	Human	2	name , alternate_id
12843958	CV375352	single nucleotide variant	NM_004990.4(MARS1):c.490+14A>G	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002230066]\|not specified [RCV000437151]	benign\|likely benign	12	57489985	57489985	Human	2	name
12843967	CV375365	single nucleotide variant	NM_004990.4(MARS1):c.887+17G>A	Charcot-Marie-Tooth disease [RCV001173658]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002230080]\|not specified [RCV000437163]	likely benign	12	57498290	57498290	Human	3	name
597890171	CV3867533	single nucleotide variant	NM_004990.4(MARS1):c.1294-9C>T	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005218724]	likely benign	12	57504216	57504216	Human	2	name
597840432	CV3867890	deletion	NM_004990.4(MARS1):c.1540-6del	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005211086]	likely benign	12	57512001	57512001	Human	2	name
597894445	CV3868518	single nucleotide variant	NM_004990.4(MARS1):c.414+19T>A	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005219372]	likely benign	12	57489577	57489577	Human	2	name
597867437	CV3869268	single nucleotide variant	NM_004990.4(MARS1):c.1091+9C>A	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005215198]	likely benign	12	57498632	57498632	Human	2	name
597855803	CV3870576	single nucleotide variant	NM_004990.4(MARS1):c.770+11A>G	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005228777]	likely benign	12	57490655	57490655	Human	2	name
597889745	CV3871241	single nucleotide variant	NM_004990.4(MARS1):c.280-19C>T	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005218573]	likely benign	12	57489405	57489405	Human	2	name
597877128	CV3871544	single nucleotide variant	NM_004990.4(MARS1):c.414+15G>C	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005216760]	likely benign	12	57489573	57489573	Human	2	name
597890558	CV3871612	single nucleotide variant	NM_004990.4(MARS1):c.1539+3A>G	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005218780]	uncertain significance	12	57511871	57511871	Human	2	name
597926844	CV3874042	single nucleotide variant	NM_004990.4(MARS1):c.490+13C>T	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005224314]	likely benign	12	57489984	57489984	Human	2	name
597886903	CV3876433	single nucleotide variant	NM_004990.4(MARS1):c.1293+9A>G	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005218179]	likely benign	12	57500531	57500531	Human	2	name
597858328	CV3877930	single nucleotide variant	NM_004990.4(MARS1):c.887+15T>A	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005229240]	likely benign	12	57498288	57498288	Human	2	name
597841630	CV3878110	single nucleotide variant	NM_004990.4(MARS1):c.770+17C>G	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005226597]	likely benign	12	57490661	57490661	Human	2	name
597928628	CV3878907	single nucleotide variant	NM_004990.4(MARS1):c.279+12G>T	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005224568]	likely benign	12	57489357	57489357	Human	2	name
597914876	CV3880195	single nucleotide variant	NM_004990.4(MARS1):c.1539+9C>T	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005222435]	likely benign	12	57511877	57511877	Human	2	name
616934531	CV4012539	single nucleotide variant	NM_004990.4(MARS1):c.2464-2A>C	not specified [RCV005409576]	uncertain significance	12	57516243	57516243	Human		name
12913562	CV421946	duplication	NM_004990.4(MARS1):c.1091+2dup	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV000652563]\|not provided [RCV001696821]	uncertain significance	12	57498624	57498625	Human	2	name
13472373	CV445063	single nucleotide variant	NM_004990.4(MARS1):c.2204+1G>T	not provided [RCV000519112]	uncertain significance	12	57515059	57515059	Human		name
13474415	CV463122	single nucleotide variant	NM_004990.4(MARS1):c.1754-4C>A	MARS1-related disorder [RCV003962599]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV000544897]\|not specified [RCV000602509]	likely benign	12	57512747	57512747	Human	2	name , alternate_id
13509858	CV482028	single nucleotide variant	NM_004990.4(MARS1):c.2464-7T>C	not provided [RCV000578938]	uncertain significance	12	57516238	57516238	Human		name
13536081	CV503993	single nucleotide variant	NM_004990.4(MARS1):c.109+18G>C	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002232720]\|not specified [RCV000608480]	benign\|likely benign	12	57488217	57488217	Human	2	name
13530573	CV504010	single nucleotide variant	NM_004990.4(MARS1):c.110-10C>T	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV000878542]\|not specified [RCV000606173]	likely benign	12	57489009	57489009	Human	2	name
13536306	CV504016	single nucleotide variant	NM_004990.4(MARS1):c.664-12C>T	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003767582]\|not specified [RCV000608812]	likely benign	12	57490526	57490526	Human	2	name
13534775	CV504332	single nucleotide variant	NM_004990.4(MARS1):c.280-18A>G	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002232600]\|not specified [RCV000602002]	benign\|likely benign	12	57489406	57489406	Human	2	name
13530073	CV504563	single nucleotide variant	NM_004990.4(MARS1):c.771-15C>G	Charcot-Marie-Tooth disease [RCV001173665]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002232735]\|not provided [RCV004705700]\|not specified [RCV000605980]	likely benign	12	57498142	57498142	Human	3	name
13624717	CV527606	single nucleotide variant	NM_004990.4(MARS1):c.1369-7A>C	Charcot-Marie-Tooth disease axonal type 2U [RCV001334346]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV000652568]	likely benign\|uncertain significance	12	57511691	57511691	Human	2	name
13812780	CV565643	single nucleotide variant	NM_004990.4(MARS1):c.1968-8C>T	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV000703922]	uncertain significance	12	57514712	57514712	Human	2	name
14718804	CV652336	single nucleotide variant	NM_004990.4(MARS1):c.1754-1G>C	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV000813221]	uncertain significance	12	57512750	57512750	Human	2	name
14711791	CV666883	single nucleotide variant	NM_004990.4(MARS1):c.201-10C>T	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005213411]\|not provided [RCV000828164]	likely benign	12	57489257	57489257	Human	2	name
15168853	CV760180	single nucleotide variant	NM_004990.4(MARS1):c.2556+9C>T	not provided [RCV000927380]	likely benign	12	57516346	57516346	Human		name
15159998	CV760233	single nucleotide variant	NM_004990.4(MARS1):c.1294-4G>C	not provided [RCV000925395]	likely benign	12	57504221	57504221	Human		name
15099602	CV776074	single nucleotide variant	NM_004990.4(MARS1):c.2100-8C>T	not provided [RCV000936506]	likely benign	12	57514946	57514946	Human		name
15154640	CV778106	single nucleotide variant	NM_004990.4(MARS1):c.1636-9T>C	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV000946329]	likely benign	12	57512227	57512227	Human	2	name
34890192	CV905671	single nucleotide variant	NM_004990.4(MARS1):c.280-13C>T	Charcot-Marie-Tooth disease [RCV001173671]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002240917]	likely benign	12	57489411	57489411	Human	3	name
34890178	CV905673	single nucleotide variant	NM_004990.4(MARS1):c.663+11G>A	Charcot-Marie-Tooth disease [RCV001173659]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002240747]	likely benign	12	57490390	57490390	Human	3	name
34890175	CV905674	single nucleotide variant	NM_004990.4(MARS1):c.663+20C>T	Charcot-Marie-Tooth disease [RCV001173654]	likely benign	12	57490399	57490399	Human	1	name
34890695	CV905675	single nucleotide variant	NM_004990.4(MARS1):c.887+17G>C	Charcot-Marie-Tooth disease [RCV001174277]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002240750]\|not provided [RCV002227251]	benign\|likely benign	12	57498290	57498290	Human	3	name
34890011	CV905676	single nucleotide variant	NM_004990.4(MARS1):c.1368+3A>T	Charcot-Marie-Tooth disease [RCV001173429]	uncertain significance	12	57504302	57504302	Human	1	name
34890190	CV905679	single nucleotide variant	NM_004990.4(MARS1):c.2392-8T>A	Charcot-Marie-Tooth disease [RCV001173670]	likely benign	12	57515912	57515912	Human	1	name
38476006	CV940273	single nucleotide variant	NM_004990.4(MARS1):c.1967+3A>G	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV001204493]\|not specified [RCV004033619]	uncertain significance	12	57512967	57512967	Human	2	name
38464370	CV960049	single nucleotide variant	NM_004990.4(MARS1):c.2556+1G>A	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV001229978]	uncertain significance	12	57516338	57516338	Human	2	name
127234342	CV977065	single nucleotide variant	NM_004990.4(MARS1):c.2391+3A>G	Charcot-Marie-Tooth disease axonal type 2U [RCV001391546]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002241654]	pathogenic\|uncertain significance	12	57515339	57515339	Human	2	name
150453390	CV1219826	single nucleotide variant	NM_004990.4(MARS1):c.1369-69A>G	not provided [RCV001612207]	benign	12	57511629	57511629	Human		name
150511395	CV1242703	single nucleotide variant	NM_004990.4(MARS1):c.771-136T>C	not provided [RCV001661055]	benign	12	57498021	57498021	Human		name
150441702	CV1246778	single nucleotide variant	NM_004990.4(MARS1):c.109+112A>G	not provided [RCV001666432]	benign	12	57488311	57488311	Human		name
150474140	CV1252521	single nucleotide variant	NM_004990.4(MARS1):c.1539+36A>G	not provided [RCV001671724]	benign	12	57511904	57511904	Human		name
152035178	CV1670103	single nucleotide variant	NM_004990.4(MARS1):c.2100-19C>G	not provided [RCV002223637]	uncertain significance	12	57514935	57514935	Human		name
152984790	CV1673629	single nucleotide variant	NM_004990.4(MARS1):c.1293+16C>A	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239228]	likely benign	12	57500538	57500538	Human	2	name
152984791	CV1673630	single nucleotide variant	NM_004990.4(MARS1):c.1293+17C>T	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239229]	likely benign	12	57500539	57500539	Human	2	name
152985057	CV1673648	deletion	NM_004990.4(MARS1):c.1539+10del	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239694]	likely benign	12	57511876	57511876	Human	2	name
152984809	CV1673652	single nucleotide variant	NM_004990.4(MARS1):c.1635+11C>A	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239247]	likely benign	12	57512114	57512114	Human	2	name
152984810	CV1673653	single nucleotide variant	NM_004990.4(MARS1):c.1635+11C>G	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239248]	likely benign	12	57512114	57512114	Human	2	name
152984815	CV1673658	single nucleotide variant	NM_004990.4(MARS1):c.1754-11C>T	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239253]	likely benign	12	57512740	57512740	Human	2	name
152984819	CV1673667	deletion	NM_004990.4(MARS1):c.1967+18del	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239257]	benign	12	57512979	57512979	Human	2	name
152984820	CV1673668	single nucleotide variant	NM_004990.4(MARS1):c.1968-19T>C	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239258]	likely benign	12	57514701	57514701	Human	2	name
152978564	CV1673696	single nucleotide variant	NM_004990.4(MARS1):c.2391+13G>A	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002236575]	likely benign	12	57515349	57515349	Human	2	name
152978592	CV1673702	single nucleotide variant	NM_004990.4(MARS1):c.2464-13T>C	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002236581]	likely benign	12	57516232	57516232	Human	2	name
152985072	CV1673705	single nucleotide variant	NM_004990.4(MARS1):c.2557-12C>A	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239709]	likely benign	12	57516423	57516423	Human	2	name
155960126	CV1900323	single nucleotide variant	NM_004990.4(MARS1):c.1091+20G>A	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003095802]	likely benign	12	57498643	57498643	Human	2	name
155945304	CV1911252	single nucleotide variant	NM_004990.4(MARS1):c.1967+15G>T	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002615895]	likely benign\|uncertain significance	12	57512979	57512979	Human	2	name
156041637	CV1926892	single nucleotide variant	NM_004990.4(MARS1):c.1294-13T>C	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002637599]	likely benign\|uncertain significance	12	57504212	57504212	Human	2	name
156447104	CV1944741	single nucleotide variant	NM_004990.4(MARS1):c.1968-20C>T	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003118631]	likely benign	12	57514700	57514700	Human	2	name
156014026	CV2013332	single nucleotide variant	NM_004990.4(MARS1):c.2205-16G>A	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002735046]	likely benign	12	57515134	57515134	Human	2	name
156170112	CV2041513	single nucleotide variant	NM_004990.4(MARS1):c.2557-11C>T	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002741834]	likely benign	12	57516424	57516424	Human	2	name
156040512	CV2044021	single nucleotide variant	NM_004990.4(MARS1):c.2557-15C>A	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002781473]	likely benign	12	57516420	57516420	Human	2	name
156163319	CV2044993	single nucleotide variant	NM_004990.4(MARS1):c.1754-17C>G	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002741624]	likely benign	12	57512734	57512734	Human	2	name
156140442	CV2082292	single nucleotide variant	NM_004990.4(MARS1):c.2099+13C>T	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002871963]	likely benign	12	57514864	57514864	Human	2	name
156026906	CV2129039	single nucleotide variant	NM_004990.4(MARS1):c.1636-16A>G	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002949049]	likely benign	12	57512220	57512220	Human	2	name
156316597	CV2140331	single nucleotide variant	NM_004990.4(MARS1):c.1753+16G>A	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003011424]	likely benign	12	57512369	57512369	Human	2	name
155921732	CV2148469	single nucleotide variant	NM_004990.4(MARS1):c.1092-18C>T	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003013220]	likely benign	12	57500303	57500303	Human	2	name
156129541	CV2155699	single nucleotide variant	NM_004990.4(MARS1):c.1636-17T>G	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003003302]	likely benign	12	57512219	57512219	Human	2	name
156244482	CV2187302	single nucleotide variant	NM_004990.4(MARS1):c.1540-16T>C	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003059778]	likely benign	12	57511992	57511992	Human	2	name
405025770	CV3082117	single nucleotide variant	NM_004990.4(MARS1):c.2464-12G>A	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003785724]	likely benign	12	57516233	57516233	Human	2	name
405013465	CV3083777	single nucleotide variant	NM_004990.4(MARS1):c.1091+15A>T	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003784570]	likely benign	12	57498638	57498638	Human	2	name
405014818	CV3083900	single nucleotide variant	NM_004990.4(MARS1):c.1369-10G>A	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003784693]	likely benign	12	57511688	57511688	Human	2	name
404983163	CV3086936	single nucleotide variant	NM_004990.4(MARS1):c.2205-10T>C	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003781556]	likely benign	12	57515140	57515140	Human	2	name
404984071	CV3087206	single nucleotide variant	NM_004990.4(MARS1):c.1754-15T>C	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003781669]	likely benign	12	57512736	57512736	Human	2	name
402523241	CV3088288	single nucleotide variant	NM_004990.4(MARS1):c.1967+12T>G	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003790625]	likely benign	12	57512976	57512976	Human	2	name
405017991	CV3091655	single nucleotide variant	NM_004990.4(MARS1):c.2099+12A>T	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003795322]	likely benign	12	57514863	57514863	Human	2	name
402518426	CV3091727	single nucleotide variant	NM_004990.4(MARS1):c.2204+19T>C	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003790173]	likely benign	12	57515077	57515077	Human	2	name
405051991	CV3097912	single nucleotide variant	NM_004990.4(MARS1):c.1539+14T>G	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003808325]	likely benign	12	57511882	57511882	Human	2	name
405002888	CV3102115	single nucleotide variant	NM_004990.4(MARS1):c.2464-18A>G	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003804161]	likely benign	12	57516227	57516227	Human	2	name
405045571	CV3103928	single nucleotide variant	NM_004990.4(MARS1):c.2392-12C>A	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003797646]	likely benign	12	57515908	57515908	Human	2	name
405109910	CV3112587	single nucleotide variant	NM_004990.4(MARS1):c.1091+19G>A	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003813430]	likely benign	12	57498642	57498642	Human	2	name
12838584	CV372487	single nucleotide variant	NM_004990.4(MARS1):c.2204+11G>A	Charcot-Marie-Tooth disease [RCV001174280]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002230250]\|not provided [RCV001702451]\|not specified [RCV000427227]	benign\|likely benign	12	57515069	57515069	Human	3	name
12833316	CV373405	single nucleotide variant	NM_004990.4(MARS1):c.1369-11C>T	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002230068]\|not specified [RCV000418268]	benign\|likely benign	12	57511687	57511687	Human	2	name
597883743	CV3866044	single nucleotide variant	NM_004990.4(MARS1):c.2204+14G>A	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005217709]	likely benign	12	57515072	57515072	Human	2	name
597890266	CV3867547	single nucleotide variant	NM_004990.4(MARS1):c.1540-20T>C	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005218738]	likely benign	12	57511988	57511988	Human	2	name
597877827	CV3871807	single nucleotide variant	NM_004990.4(MARS1):c.2205-18A>G	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005216858]	likely benign	12	57515132	57515132	Human	2	name
597851175	CV3873362	deletion	NM_004990.4(MARS1):c.2556+19del	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005212804]	likely benign	12	57516356	57516356	Human	2	name
597860012	CV3874713	single nucleotide variant	NM_004990.4(MARS1):c.1540-18C>T	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005214054]	likely benign	12	57511990	57511990	Human	2	name
597863220	CV3875344	single nucleotide variant	NM_004990.4(MARS1):c.2463+17C>T	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005214521]	likely benign	12	57516008	57516008	Human	2	name
597851710	CV3877122	single nucleotide variant	NM_004990.4(MARS1):c.1967+11G>C	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005228350]	likely benign	12	57512975	57512975	Human	2	name
597858345	CV3877932	single nucleotide variant	NM_004990.4(MARS1):c.2205-17T>C	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005229242]	likely benign	12	57515133	57515133	Human	2	name
597834578	CV3878692	single nucleotide variant	NM_004990.4(MARS1):c.1967+11G>A	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005225062]	likely benign	12	57512975	57512975	Human	2	name
597914099	CV3880084	single nucleotide variant	NM_004990.4(MARS1):c.1293+12G>T	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005222323]	likely benign	12	57500534	57500534	Human	2	name
13525015	CV504025	single nucleotide variant	NM_004990.4(MARS1):c.2204+10C>T	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV000951643]\|not specified [RCV000602576]	likely benign	12	57515068	57515068	Human	2	name
13530590	CV504342	single nucleotide variant	NM_004990.4(MARS1):c.1539+12T>G	not specified [RCV000606179]	likely benign	12	57511880	57511880	Human		name
15099694	CV760236	single nucleotide variant	NM_004990.4(MARS1):c.1968-10C>T	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV001489684]	likely benign	12	57514710	57514710	Human	2	name
34890173	CV905677	single nucleotide variant	NM_004990.4(MARS1):c.1368+15C>T	Charcot-Marie-Tooth disease [RCV001173653]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002557492]	likely benign	12	57504314	57504314	Human	3	name
34890188	CV905678	single nucleotide variant	NM_004990.4(MARS1):c.1369-14C>T	Charcot-Marie-Tooth disease [RCV001173669]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002240916]	likely benign	12	57511684	57511684	Human	3	name
34890177	CV905680	single nucleotide variant	NM_004990.4(MARS1):c.2557-14C>T	Charcot-Marie-Tooth disease [RCV001173656]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003769851]	likely benign	12	57516421	57516421	Human	3	name
34890183	CV905681	single nucleotide variant	NM_004990.4(MARS1):c.2557-13C>A	Charcot-Marie-Tooth disease [RCV001173663]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002240914]	likely benign	12	57516422	57516422	Human	3	name
34890181	CV905682	single nucleotide variant	NM_004990.4(MARS1):c.2557-13C>G	Charcot-Marie-Tooth disease [RCV001173662]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003769852]	likely benign	12	57516422	57516422	Human	3	name
34890693	CV905683	single nucleotide variant	NM_004990.4(MARS1):c.2557-12C>G	Charcot-Marie-Tooth disease [RCV001174273]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002240919]	benign\|likely benign	12	57516423	57516423	Human	3	name
150489182	CV1284193	single nucleotide variant	NM_004990.4(MARS1):c.1369-132G>C	not provided [RCV001716234]	benign	12	57511566	57511566	Human		name
150463512	CV1235066	duplication	NM_138395.4(MARS2):c.166_168dup	not provided [RCV001649648]	benign	2	197707352	197707353	Human		name
150541549	CV1306442	deletion	NM_138395.4(MARS2):c.248_261del	not provided [RCV001768064]	likely benign	2	197707434	197707447	Human		name
152979000	CV1673576	microsatellite	NM_004990.4(MARS1):c.109+7GTGCTG[3]	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239684]	uncertain significance	12	57488205	57488206	Human		name
405018913	CV3094150	deletion	NM_004990.4(MARS1):c.1531_1539+14del	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003785000]	uncertain significance	12	57511856	57511878	Human	2	name
152978568	CV1673697	deletion	NM_004990.4(MARS1):c.2392-7_2392-5del	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002236576]	benign	12	57515909	57515911	Human	2	name
152978588	CV1673701	microsatellite	NM_004990.4(MARS1):c.2464-9_2464-7del	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002236580]	likely benign	12	57516231	57516233	Human		name
155802531	CV1857531	microsatellite	NM_004990.4(MARS1):c.1968-5_1968-2del	not specified [RCV004067457]	uncertain significance	12	57514711	57514714	Human		name
156099626	CV2087931	microsatellite	NM_004990.4(MARS1):c.109+16_109+21del	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002848032]	likely benign	12	57488206	57488211	Human		name
156329888	CV2161294	deletion	NM_004990.4(MARS1):c.1369-6_1369-2del	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003029707]	uncertain significance	12	57511691	57511695	Human	2	name
156117071	CV2174049	deletion	NM_004990.4(MARS1):c.770+18_770+19del	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003055319]	uncertain significance	12	57490662	57490663	Human	2	name
13538194	CV504570	microsatellite	NM_004990.4(MARS1):c.2204+4_2204+7del	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002232240]\|not specified [RCV000611469]	likely benign\|uncertain significance	12	57515057	57515060	Human		name
597836916	CV3874513	microsatellite	NM_004990.4(MARS1):c.2205-11_2205-9del	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005210434]	likely benign	12	57515136	57515138	Human		name
152984827	CV1673675	microsatellite	NM_004990.4(MARS1):c.2099+18_2099+19del	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239265]	likely benign	12	57514867	57514868	Human		name
155801951	CV1857037	indel	NM_004990.4(MARS1):c.2205-2_2220delinsC	not specified [RCV004066507]	uncertain significance	12	57515148	57515165	Human		name
10401538	CV205311	single nucleotide variant	NM_001365902.3(NFIX):c.361C>T (p.Arg121Cys)	Inborn genetic diseases [RCV000190740]\|Malan overgrowth syndrome [RCV003152692]\|Marshall-Smith syndrome [RCV001250542]\|Marshall-Smith syndrome [RCV001270871]\|not provided [RCV001311170]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	19	13025354	13025354	Human	3	trait
13522061	CV490221	single nucleotide variant	NM_001854.4(COL11A1):c.4547G>T (p.Gly1516Val)	COL11A1-related disorder [RCV004737861]\|Marshall syndrome [RCV000624108]\|Marshall syndrome [RCV001799515]\|Stickler syndrome type 2 [RCV001824151]\|not provided [RCV000591257]	pathogenic\|likely pathogenic	1	102888730	102888730	Human	3	trait
8555129	CV106533	duplication	MARS2, DUP2	Spastic ataxia 3 [RCV000087061]	pathogenic				Human	1	name
8555168	CV24728	single nucleotide variant	NC_012920.1(MT-ND6):m.14459G>A	Leber optic atrophy [RCV000010327]\|Leber optic atrophy and dystonia [RCV000010326]\|Leigh syndrome [RCV000144019]\|Leigh syndrome due to mitochondrial complex I deficiency [RCV000010328]\|MELAS syndrome [RCV005252672]\|Mitochondrial disease [RCV001796715]\|not provided [RCV004696634]	pathogenic	MT	14459	14459	Human	6	alternate_id
8555169	CV24729	single nucleotide variant	NC_012920.1(MT-ND6):m.14596A>T	Leber optic atrophy [RCV000055704]\|Leber optic atrophy and dystonia [RCV000010329]\|Mitochondrial disease [RCV004791208]	pathogenic\|uncertain significance\|not provided	MT	14596	14596	Human	3	alternate_id
8555175	CV24747	single nucleotide variant	NC_012920.1(MT-ND4):m.11778G>A	Leber optic atrophy [RCV000010354]\|Leber optic atrophy and dystonia [RCV005252674]\|Leber optic atrophy, susceptibility to [RCV002288481]\|Mitochondrial disease [RCV002260593]\|Optic atrophy [RCV004814876]\|Retinal dystrophy [RCV004814875]\|not provided [RCV000224219]\|not specified [RCV002285007]	pathogenic\|likely pathogenic	MT	11778	11778	Human	8	alternate_id
8555176	CV24749	single nucleotide variant	NC_012920.1(MT-ND4):m.11696G>A	Leber optic atrophy [RCV000055697]\|Leber optic atrophy and dystonia [RCV000010356]\|Leigh syndrome [RCV000854742]	pathogenic\|benign\|not provided	MT	11696	11696	Human	3	alternate_id
8555046	CV24750	single nucleotide variant	NC_012920.1(MT-ND4):m.11777C>A	Leber optic atrophy [RCV000854746]\|Leber optic atrophy and dystonia [RCV005252675]\|Leigh syndrome [RCV000144013]\|Mitochondrial complex I deficiency [RCV000010357]\|Mitochondrial disease [RCV002260594]	pathogenic\|likely pathogenic\|not provided	MT	11777	11777	Human	5	alternate_id
8555050	CV24754	single nucleotide variant	NC_012920.1(MT-ND3):m.10197G>A	Leber optic atrophy and dystonia [RCV000010363]\|Leigh syndrome [RCV000144011]\|Mitochondrial DNA-Associated Leigh Syndrome and NARP [RCV002247309]\|Mitochondrial complex 1 deficiency, mitochondrial type 1 [RCV000010362]\|Mitochondrial disease [RCV002291213]\|Mitochondrial myopathy, episodic, with optic ... (more) atrophy and reversible leukoencephalopathy [RCV004767000]\|See cases [RCV004017234]\|not provided [RCV000507278]\|not specified [RCV002285008]	pathogenic\|likely pathogenic	MT	10197	10197	Human	6	alternate_id
8555062	CV24772	single nucleotide variant	NC_012920.1(MT-ND1):m.3697G>A	Leber optic atrophy [RCV000056168]\|Leber optic atrophy and dystonia [RCV000010386]\|MELAS syndrome [RCV000010385]\|Migraine [RCV003298030]\|Mitochondrial disease [RCV002221474]	pathogenic\|likely pathogenic	MT	3697	3697	Human	12	alternate_id
126745387	CV1015463	single nucleotide variant	NM_001854.4(COL11A1):c.1245+1G>A	COL11A1-related disorder [RCV004738382]\|Intervertebral disc disorder [RCV002503269]\|not provided [RCV001780801]	pathogenic\|likely pathogenic	1	103022741	103022741	Human	5	alternate_id
126750140	CV1022461	single nucleotide variant	NM_001854.4(COL11A1):c.5386G>A (p.Gly1796Arg)	Intervertebral disc disorder [RCV002486462]\|not provided [RCV001352190]	uncertain significance	1	102878054	102878054	Human	5	alternate_id
126765248	CV1022465	single nucleotide variant	NM_001854.4(COL11A1):c.3692G>T (p.Gly1231Val)	Inborn genetic diseases [RCV004968073]\|Intervertebral disc disorder [RCV001535998]\|not provided [RCV001341960]	likely pathogenic\|uncertain significance	1	102921534	102921534	Human	6	alternate_id
127316295	CV1153152	single nucleotide variant	NM_001854.4(COL11A1):c.4032+16A>G	Intervertebral disc disorder [RCV002501829]\|not provided [RCV001520419]	benign\|likely benign	1	102913621	102913621	Human	5	alternate_id
150330628	CV1168597	single nucleotide variant	NM_001854.4(COL11A1):c.4186G>T (p.Gly1396Cys)	Intervertebral disc disorder [RCV001535915]	likely pathogenic	1	102898728	102898728	Human	5	alternate_id
150413963	CV1196426	single nucleotide variant	NM_001854.4(COL11A1):c.3068C>A (p.Ala1023Glu)	COL11A1-related disorder [RCV004536209]\|Intervertebral disc disorder [RCV002495920]\|not provided [RCV001574783]	conflicting interpretations of pathogenicity\|uncertain significance	1	102962222	102962222	Human	5	alternate_id
150532236	CV1294613	single nucleotide variant	NM_001854.4(COL11A1):c.2241+5G>T	Intervertebral disc disorder [RCV005040348]\|not provided [RCV001752105]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	102997075	102997075	Human	5	alternate_id
150555721	CV1304876	single nucleotide variant	NM_001854.4(COL11A1):c.565C>T (p.Pro189Ser)	Intervertebral disc disorder [RCV002488601]\|not provided [RCV001773124]	uncertain significance	1	103074704	103074704	Human	5	alternate_id
151813399	CV1367812	single nucleotide variant	NM_001854.4(COL11A1):c.2285G>A (p.Arg762Gln)	Hearing loss, autosomal dominant 37 [RCV004584929]\|Intervertebral disc disorder [RCV002478131]\|Marshall syndrome [RCV005361770]\|not provided [RCV001878497]	likely pathogenic\|benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	102995999	102995999	Human	5	alternate_id
151875540	CV1397140	single nucleotide variant	NM_001854.4(COL11A1):c.4709T>C (p.Leu1570Pro)	COL11A1-related disorder [RCV004538616]\|Intervertebral disc disorder [RCV002491900]\|not provided [RCV001940346]	conflicting interpretations of pathogenicity\|uncertain significance	1	102886956	102886956	Human	5	alternate_id
151777958	CV1436747	single nucleotide variant	NM_001854.4(COL11A1):c.3375C>G (p.Asp1125Glu)	Intervertebral disc disorder [RCV002497936]\|not provided [RCV001971810]	uncertain significance	1	102940336	102940336	Human	5	alternate_id
151724480	CV1439977	single nucleotide variant	NM_001854.4(COL11A1):c.5231A>G (p.Tyr1744Cys)	Intervertebral disc disorder [RCV004796706]\|not provided [RCV002040508]	benign\|uncertain significance	1	102879726	102879726	Human	5	alternate_id
151792991	CV1447009	microsatellite	NM_001854.4(COL11A1):c.549GAA[1] (p.Lys185del)	Intervertebral disc disorder [RCV002482471]\|not provided [RCV001876684]	uncertain significance	1	103074715	103074717	Human		alternate_id
151794305	CV1506100	single nucleotide variant	NM_001854.4(COL11A1):c.4175C>T (p.Thr1392Ile)	Inborn genetic diseases [RCV004041177]\|Intervertebral disc disorder [RCV002478216]\|not provided [RCV001917118]	uncertain significance	1	102898739	102898739	Human	6	alternate_id
152098815	CV1530963	single nucleotide variant	NM_001854.4(COL11A1):c.3792G>A (p.Gly1264=)	COL11A1-related disorder [RCV004543866]\|Intervertebral disc disorder [RCV002486937]\|not provided [RCV002132991]	likely benign	1	102915655	102915655	Human	5	alternate_id
156087881	CV1953349	single nucleotide variant	NM_001854.4(COL11A1):c.2503-3T>C	Intervertebral disc disorder [RCV005042868]\|not provided [RCV002570123]	uncertain significance	1	102984194	102984194	Human	5	alternate_id
10052993	CV195635	single nucleotide variant	NM_001854.4(COL11A1):c.965C>T (p.Pro322Leu)	COL11A1-related disorder [RCV004539687]\|Fibrochondrogenesis 1 [RCV001102151]\|Intervertebral disc disorder [RCV005031715]\|Stickler syndrome type 2 [RCV001102150]\|not provided [RCV000179833]\|not specified [RCV003488432]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	103025546	103025546	Human	5	alternate_id
156357967	CV2020230	single nucleotide variant	NM_001854.4(COL11A1):c.2203C>G (p.Pro735Ala)	Intervertebral disc disorder [RCV005034382]\|not provided [RCV002720665]	benign\|uncertain significance	1	102997118	102997118	Human	5	alternate_id
11542263	CV249291	single nucleotide variant	NM_001854.4(COL11A1):c.2611-4C>T	Fibrochondrogenesis 1 [RCV000390793]\|Intervertebral disc disorder [RCV002500889]\|Stickler syndrome type 2 [RCV000343426]\|not provided [RCV000955739]\|not specified [RCV000243859]	benign\|likely benign	1	102979108	102979108	Human	5	alternate_id
11542288	CV249299	single nucleotide variant	NM_001854.4(COL11A1):c.651+16A>G	Intervertebral disc disorder [RCV002500890]\|not provided [RCV001522057]\|not specified [RCV000245300]	benign	1	103074602	103074602	Human	5	alternate_id
11643918	CV265665	single nucleotide variant	NM_001854.4(COL11A1):c.2241+6T>C	Intervertebral disc disorder [RCV002487183]\|not provided [RCV000402995]	uncertain significance	1	102997074	102997074	Human	5	alternate_id
11589848	CV275691	single nucleotide variant	NM_001854.4(COL11A1):c.4222G>A (p.Gly1408Ser)	COL11A1-related disorder [RCV004737426]\|Fibrochondrogenesis 1 [RCV000368686]\|Inborn genetic diseases [RCV002519362]\|Intervertebral disc disorder [RCV002480062]\|Stickler syndrome type 2 [RCV000393287]\|not provided [RCV000488030]	conflicting interpretations of pathogenicity\|uncertain significance	1	102898692	102898692	Human	6	alternate_id
11583851	CV275722	single nucleotide variant	NM_001854.4(COL11A1):c.3788C>T (p.Pro1263Leu)	Fibrochondrogenesis 1 [RCV000364042]\|Intervertebral disc disorder [RCV002487297]\|Stickler syndrome type 2 [RCV000269269]\|not provided [RCV002522048]	benign\|uncertain significance	1	102915659	102915659	Human	5	alternate_id
11585129	CV275725	single nucleotide variant	NM_001854.4(COL11A1):c.2020C>T (p.Pro674Ser)	Fibrochondrogenesis 1 [RCV000378977]\|Intervertebral disc disorder [RCV005033856]\|Stickler syndrome type 2 [RCV000317432]\|not provided [RCV001409133]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	103002770	103002770	Human	5	alternate_id
11585218	CV275744	single nucleotide variant	NM_001854.4(COL11A1):c.130G>A (p.Ala44Thr)	Connective tissue disorder [RCV002278330]\|Fibrochondrogenesis 1 [RCV000334463]\|Intervertebral disc disorder [RCV002494901]\|Stickler syndrome type 2 [RCV000279365]\|not provided [RCV000896363]\|not specified [RCV000601599]	benign\|likely benign	1	103082949	103082949	Human	6	alternate_id
405113903	CV3133736	single nucleotide variant	NM_001854.4(COL11A1):c.4186G>A (p.Gly1396Ser)	Intervertebral disc disorder [RCV004796851]\|not provided [RCV003836530]\|not specified [RCV003994594]	likely benign\|uncertain significance	1	102898728	102898728	Human	5	alternate_id
12845003	CV364283	single nucleotide variant	NM_001854.4(COL11A1):c.4802C>A (p.Thr1601Asn)	COL11A1-related disorder [RCV004533127]\|Connective tissue disorder [RCV000680456]\|Fibrochondrogenesis 1 [RCV001097884]\|Inborn genetic diseases [RCV004022502]\|Intervertebral disc disorder [RCV005033955]\|Stickler syndrome type 2 [RCV001097885]\|not provided [RCV000439022]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	102886863	102886863	Human	7	alternate_id
597668149	CV3730192	single nucleotide variant	NM_001854.4(COL11A1):c.5075A>G (p.Asn1692Ser)	Intervertebral disc disorder [RCV005029317]	uncertain significance	1	102879882	102879882	Human	5	alternate_id
14395782	CV611480	single nucleotide variant	NM_001854.4(COL11A1):c.4084C>T (p.Arg1362Ter)	Intervertebral disc disorder [RCV005036087]\|not provided [RCV000760438]	pathogenic	1	102912161	102912161	Human	5	alternate_id
8691905	CV141871	single nucleotide variant	NM_138395.4(MARS2):c.1580T>C (p.Val527Ala)	MARS2-related disorder [RCV003915262]\|Spastic ataxia 3 [RCV002498619]\|not provided [RCV000962955]\|not specified [RCV000126687]	benign	2	197706985	197706985	Human	2	alternate_id
152036661	CV1617764	single nucleotide variant	NM_138395.4(MARS2):c.757C>T (p.Leu253=)	MARS2-related disorder [RCV003951200]\|not provided [RCV002125445]	likely benign	2	197706162	197706162	Human	1	name , alternate_id
155940234	CV1913636	duplication	NM_004990.4(MARS1):c.1859_1862dup (p.Leu622fs)	MARS1-related disorder [RCV003427575]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002615583]	uncertain significance	12	57512852	57512853	Human	2	alternate_id
10409185	CV210728	single nucleotide variant	NM_138395.4(MARS2):c.721G>A (p.Val241Ile)	MARS2-related disorder [RCV003955190]\|not provided [RCV000905501]	likely benign	2	197706126	197706126	Human	1	alternate_id
155935143	CV2125609	single nucleotide variant	NM_138395.4(MARS2):c.510C>T (p.Cys170=)	MARS2-related disorder [RCV003943647]\|not provided [RCV002970886]	likely benign	2	197705915	197705915	Human	1	name , alternate_id
405149319	CV3063532	single nucleotide variant	NM_138395.4(MARS2):c.1122C>T (p.Leu374=)	MARS2-related disorder [RCV003956520]\|not provided [RCV003726301]	likely benign\|uncertain significance	2	197706527	197706527	Human	1	name , alternate_id
405038092	CV3106356	single nucleotide variant	NM_004990.4(MARS1):c.960C>A (p.Thr320=)	MARS1-related disorder [RCV003966676]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003797047]	likely benign	12	57498492	57498492	Human	2	name , alternate_id
405293297	CV3207330	single nucleotide variant	NM_138395.4(MARS2):c.48T>C (p.Ser16=)	MARS2-related disorder [RCV003931719]	likely benign	2	197705453	197705453	Human		name , trait , alternate_id
405274564	CV3208851	single nucleotide variant	NM_138395.4(MARS2):c.1383A>C (p.Ala461=)	MARS2-related disorder [RCV003951650]	likely benign	2	197706788	197706788	Human		name , trait , alternate_id
405279601	CV3217542	single nucleotide variant	NM_004990.4(MARS1):c.1164A>G (p.Arg388=)	MARS1-related disorder [RCV003976932]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005220811]	likely benign	12	57500393	57500393	Human	2	name , alternate_id
12847147	CV366849	single nucleotide variant	NM_138395.4(MARS2):c.748C>T (p.Leu250=)	MARS2-related disorder [RCV003932562]\|not provided [RCV000893882]\|not specified [RCV000442956]	benign\|likely benign	2	197706153	197706153	Human	1	name , alternate_id
12835463	CV372476	single nucleotide variant	NM_004990.4(MARS1):c.626G>A (p.Ser209Asn)	MARS1-related disorder [RCV003932628]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV000873762]\|not provided [RCV004705564]\|not specified [RCV000421713]	benign\|likely benign	12	57490342	57490342	Human	2	alternate_id
12836256	CV373201	single nucleotide variant	NM_004990.4(MARS1):c.2180G>A (p.Arg727Gln)	Charcot-Marie-Tooth disease [RCV001173655]\|MARS1-related disorder [RCV003972596]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV001079961]\|not provided [RCV000512895]\|not specified [RCV000423081 ... (more) ]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	57515034	57515034	Human	4	alternate_id
12836256	CV373201	single nucleotide variant	NM_004990.4(MARS1):c.2180G>A (p.Arg727Gln)	Charcot-Marie-Tooth disease [RCV001173655]\|MARS1-related disorder [RCV003972596]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV001079961]\|not provided [RCV000512895]\|not specified [RCV000423081 ... (more) ]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	57515034	57515035	Human	4	alternate_id
12839504	CV373409	single nucleotide variant	NM_004990.4(MARS1):c.2391A>C (p.Thr797=)	Charcot-Marie-Tooth disease [RCV001173652]\|MARS1-related disorder [RCV003942439]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV000555547]\|not provided [RCV001532701]\|not specified [RCV000428931 ... (more) ]	likely benign\|uncertain significance	12	57515336	57515336	Human	3	name , alternate_id
12902539	CV408721	single nucleotide variant	NM_004990.4(MARS1):c.661G>A (p.Glu221Lys)	MARS1-related disorder [RCV003419800]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV000652560]\|not provided [RCV000487353]\|not specified [RCV004023138]	likely benign\|uncertain significance	12	57490377	57490377	Human	2	alternate_id
13482037	CV445061	single nucleotide variant	NM_004990.4(MARS1):c.1337C>T (p.Ser446Leu)	MARS1-related disorder [RCV004755948]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003766968]\|not provided [RCV000521674]\|not specified [RCV004023611]	uncertain significance	12	57504268	57504268	Human	2	alternate_id
13472922	CV463250	single nucleotide variant	NM_004990.4(MARS1):c.901C>T (p.Arg301Cys)	Charcot-Marie-Tooth disease [RCV001173661]\|MARS1-related disorder [RCV003915635]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV000535214]\|not provided [RCV004808780]\|not specified [RCV004024328 ... (more) ]	benign\|likely benign	12	57498433	57498433	Human	3	alternate_id
13541327	CV499867	single nucleotide variant	NM_138395.4(MARS2):c.60C>T (p.Leu20=)	MARS2-related disorder [RCV003953079]\|not provided [RCV000677086]	benign\|likely benign	2	197705465	197705465	Human	1	name , alternate_id
13624710	CV527314	single nucleotide variant	NM_004990.4(MARS1):c.1673C>A (p.Pro558His)	Charcot-Marie-Tooth disease [RCV001173444]\|MARS1-related disorder [RCV003420144]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV000652558]\|not provided [RCV001756101]	uncertain significance	12	57512273	57512273	Human	3	alternate_id
13624708	CV527610	duplication	NM_004990.4(MARS1):c.2631_2635dup (p.Leu879fs)	MARS1-related disorder [RCV003892489]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV000652556]	uncertain significance	12	57516508	57516509	Human	2	alternate_id
13624712	CV527835	single nucleotide variant	NM_004990.4(MARS1):c.2671C>T (p.Pro891Ser)	MARS1-related disorder [RCV003937984]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV000652561]\|not provided [RCV001592822]\|not specified [RCV004025872]	likely benign\|uncertain significance	12	57516549	57516549	Human	2	alternate_id
15141875	CV693255	single nucleotide variant	NM_004990.4(MARS1):c.630C>T (p.Pro210=)	MARS1-related disorder [RCV003955763]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV000877754]\|not provided [RCV004721670]	likely benign	12	57490346	57490346	Human	2	name , alternate_id
15137443	CV693256	single nucleotide variant	NM_004990.4(MARS1):c.680C>T (p.Thr227Ile)	MARS1-related disorder [RCV003930446]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV000876998]\|not provided [RCV005004463]	likely benign\|uncertain significance	12	57490554	57490554	Human	2	name , alternate_id
15099995	CV719507	single nucleotide variant	NM_138395.4(MARS2):c.1194G>A (p.Glu398=)	MARS2-related disorder [RCV003920775]\|not provided [RCV000892034]	likely benign	2	197706599	197706599	Human	1	name , alternate_id
15132691	CV733057	single nucleotide variant	NM_138395.4(MARS2):c.195G>A (p.Ser65=)	MARS2-related disorder [RCV003940813]\|not provided [RCV000898002]	likely benign	2	197705600	197705600	Human	1	name , alternate_id
15161292	CV738798	single nucleotide variant	NM_004990.4(MARS1):c.2472G>A (p.Thr824=)	MARS1-related disorder [RCV004756094]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV000903318]	likely benign	12	57516253	57516253	Human	2	name , alternate_id
15160134	CV747143	single nucleotide variant	NM_138395.4(MARS2):c.1173G>C (p.Val391=)	MARS2-related disorder [RCV003923319]\|not provided [RCV000925423]	benign\|likely benign	2	197706578	197706578	Human	1	name , alternate_id
15099080	CV762761	single nucleotide variant	NM_138395.4(MARS2):c.1207T>C (p.Leu403=)	MARS2-related disorder [RCV003942938]\|not provided [RCV000936417]	likely benign	2	197706612	197706612	Human	1	name , alternate_id
26900269	CV840145	single nucleotide variant	NM_004990.4(MARS1):c.2138G>A (p.Arg713Gln)	MARS1-related disorder [RCV003413848]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV001049683]\|not provided [RCV005232083]\|not specified [RCV004031548]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	57514992	57514992	Human	2	alternate_id
34890172	CV905367	single nucleotide variant	NM_004990.4(MARS1):c.986C>T (p.Pro329Leu)	Charcot-Marie-Tooth disease [RCV001173651]\|MARS1-related disorder [RCV004756186]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV001366742]\|not specified [RCV004032966]	uncertain significance	12	57498518	57498518	Human	3	name , alternate_id
329350725	CV2477473	variation	MARS1, ARG625TRP (rs754546247)	Spastic paraplegia 70, autosomal recessive [RCV003223369]	pathogenic				Human		name
151234049	CV1163803	deletion	NC_000001.10:g.(103388956_103400026)_(104094395_?)del	Marshall syndrome [RCV001799525]	likely pathogenic				Human	1	trait
151351274	CV1165201	deletion	NM_001854.4(COL11A1):c.4519-2del	Marshall syndrome [RCV001806225]	pathogenic	1	102888760	102888760	Human	1	trait
150534726	CV1311547	deletion	NM_001854.4(COL11A1):c.2344_2352del (p.Glu782_Gly784del)	Marshall syndrome [RCV001779393]	uncertain significance	1	102989560	102989568	Human	1	trait
152978555	CV1671720	single nucleotide variant	NM_001854.4(COL11A1):c.1351-1G>A	Marshall syndrome [RCV002227825]	uncertain significance	1	103017883	103017883	Human	1	trait
401721315	CV2737518	single nucleotide variant	NM_001854.4(COL11A1):c.4591G>C (p.Gly1531Arg)	Marshall syndrome [RCV003314457]	uncertain significance	1	102888594	102888594	Human	1	trait
8566025	CV32171	deletion	COL11A1, 54-BP DEL	Marshall syndrome [RCV000018670]	pathogenic				Human		trait
8566026	CV32173	deletion	NM_001854.4(COL11A1):c.3814_3816+1del	Marshall syndrome [RCV000018672]	pathogenic	1	102915630	102915633	Human	1	trait
8566028	CV32175	insertion	COL11A1, 1-BP INS, 3816T	Marshall syndrome [RCV000018674]	pathogenic				Human		trait
405854921	CV3395049	single nucleotide variant	NM_001854.4(COL11A1):c.3511G>C (p.Gly1171Arg)	Marshall syndrome [RCV004555191]	uncertain significance	1	102934538	102934538	Human	1	trait
405853894	CV3395310	deletion	NM_001854.4(COL11A1):c.298del (p.Ser100fs)	Marshall syndrome [RCV004555447]	likely pathogenic	1	103078848	103078848	Human	1	trait
408394665	CV3521587	single nucleotide variant	NM_001854.4(COL11A1):c.3245C>T (p.Pro1082Leu)	Marshall syndrome [RCV004764386]	likely pathogenic\|uncertain significance	1	102946880	102946880	Human	1	trait
408387579	CV3526096	single nucleotide variant	NM_001854.4(COL11A1):c.2143G>A (p.Gly715Arg)	Marshall syndrome [RCV004768472]	pathogenic	1	102998363	102998363	Human	1	trait
597714688	CV3733131	single nucleotide variant	NM_001854.4(COL11A1):c.2890G>A (p.Gly964Arg)	Marshall syndrome [RCV005052320]	uncertain significance	1	102965513	102965513	Human	1	trait
38460104	CV918538	single nucleotide variant	NM_001854.4(COL11A1):c.4031C>A (p.Pro1344Gln)	Marshall syndrome [RCV001196362]	uncertain significance	1	102913638	102913638	Human	1	trait
38461428	CV918540	single nucleotide variant	NM_001854.4(COL11A1):c.2590A>C (p.Asn864His)	Marshall syndrome [RCV001197622]	uncertain significance	1	102979402	102979402	Human	1	trait
38462001	CV918541	single nucleotide variant	NM_001854.4(COL11A1):c.385G>A (p.Val129Ile)	Marshall syndrome [RCV001197819]	uncertain significance	1	103078761	103078761	Human	1	trait
38463515	CV920116	single nucleotide variant	NM_001854.4(COL11A1):c.3817-10C>A	Marshall syndrome [RCV001199144]	uncertain significance	1	102914821	102914821	Human	1	trait
38461658	CV920117	single nucleotide variant	NM_001854.4(COL11A1):c.1999-10T>C	Marshall syndrome [RCV001197404]	uncertain significance	1	103002801	103002801	Human	1	trait
38464362	CV961586	single nucleotide variant	NM_001854.4(COL11A1):c.1168G>T (p.Glu390Ter)	Marshall syndrome [RCV001249607]	likely pathogenic	1	103022819	103022819	Human	1	trait
40814884	CV970656	single nucleotide variant	NM_001854.4(COL11A1):c.4373T>C (p.Ile1458Thr)	Marshall syndrome [RCV001262339]	uncertain significance	1	102889546	102889546	Human	1	trait
126729220	CV985711	duplication	NM_001854.4(COL11A1):c.2508dup (p.Leu837fs)	Marshall syndrome [RCV001293722]	likely pathogenic	1	102984185	102984186	Human	1	trait
155905304	CV2031404	single nucleotide variant	NM_138395.4(MARS2):c.9A>G (p.Arg3=)	not provided [RCV002726435]	likely benign	2	197705414	197705414	Human		name
597910236	CV3870902	single nucleotide variant	NM_004990.4(MARS1):c.9G>C (p.Leu3=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005221764]	likely benign	12	57488099	57488099	Human	2	name
8691906	CV141872	single nucleotide variant	NM_138395.4(MARS2):c.12G>A (p.Thr4=)	not provided [RCV000970955]\|not specified [RCV000126688]	benign	2	197705417	197705417	Human		name
8691907	CV141873	single nucleotide variant	NM_138395.4(MARS2):c.24C>G (p.Arg8=)	not provided [RCV000970956]\|not specified [RCV000126689]	benign	2	197705429	197705429	Human		name
156125745	CV2176022	single nucleotide variant	NM_138395.4(MARS2):c.24C>T (p.Arg8=)	not provided [RCV003039495]	likely benign	2	197705429	197705429	Human		name
597844619	CV3878802	single nucleotide variant	NM_004990.4(MARS1):c.12C>T (p.Phe4=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005227132]	likely benign	12	57488102	57488102	Human	2	name
597910352	CV3879379	single nucleotide variant	NM_004990.4(MARS1):c.24C>T (p.Gly8=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005221779]	likely benign	12	57488114	57488114	Human	2	name
15198770	CV725215	single nucleotide variant	NM_004990.4(MARS1):c.27C>G (p.Val9=)	not provided [RCV000890452]	likely benign	12	57488117	57488117	Human		name
127262575	CV1079534	single nucleotide variant	NM_004990.4(MARS1):c.72C>T (p.Gly24=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV001402680]	likely benign	12	57488162	57488162	Human	2	name
152145274	CV1596638	single nucleotide variant	NM_138395.4(MARS2):c.52C>T (p.Leu18=)	not provided [RCV002120936]	likely benign	2	197705457	197705457	Human		name
152978939	CV1673571	single nucleotide variant	NM_004990.4(MARS1):c.2T>A (p.Met1Lys)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239183]	uncertain significance	12	57488092	57488092	Human	2	name
152978998	CV1673575	single nucleotide variant	NM_004990.4(MARS1):c.87C>T (p.Leu29=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239683]	likely benign	12	57488177	57488177	Human	2	name
156412359	CV1969520	single nucleotide variant	NM_138395.4(MARS2):c.4C>G (p.Leu2Val)	not provided [RCV002587793]	uncertain significance	2	197705409	197705409	Human		name
156337508	CV1997306	single nucleotide variant	NM_004990.4(MARS1):c.5G>C (p.Arg2Thr)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002650145]	uncertain significance	12	57488095	57488095	Human	2	name
155902336	CV2010253	single nucleotide variant	NM_138395.4(MARS2):c.3G>C (p.Met1Ile)	not provided [RCV002726259]	uncertain significance	2	197705408	197705408	Human		name
10411118	CV210724	single nucleotide variant	NM_138395.4(MARS2):c.5T>G (p.Leu2Arg)	not provided [RCV000199593]	uncertain significance	2	197705410	197705410	Human		name
405169720	CV2854218	single nucleotide variant	NM_138395.4(MARS2):c.7C>T (p.Arg3Ter)	not provided [RCV003542067]	uncertain significance	2	197705412	197705412	Human		name
404998905	CV3085879	single nucleotide variant	NM_004990.4(MARS1):c.30G>A (p.Pro10=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003783249]	likely benign	12	57488120	57488120	Human	2	name
405853293	CV3392620	single nucleotide variant	NM_138395.4(MARS2):c.1A>G (p.Met1Val)	Spastic ataxia 3 [RCV004579625]	likely pathogenic	2	197705406	197705406	Human	1	name
12835307	CV366288	single nucleotide variant	NM_138395.4(MARS2):c.87C>T (p.Tyr29=)	not provided [RCV000930666]	likely benign	2	197705492	197705492	Human		name
12839151	CV373172	single nucleotide variant	NM_004990.4(MARS1):c.42G>T (p.Pro14=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV000652571]\|not specified [RCV000428297]	likely benign	12	57488132	57488132	Human	2	name
597837876	CV3740207	single nucleotide variant	NM_138395.4(MARS2):c.84C>T (p.Tyr28=)	not provided [RCV005064235]	uncertain significance	2	197705489	197705489	Human		name
597922128	CV3808133	single nucleotide variant	NM_138395.4(MARS2):c.57T>C (p.Ser19=)	not provided [RCV005155841]	uncertain significance	2	197705462	197705462	Human		name
616939963	CV4014314	single nucleotide variant	NM_138395.4(MARS2):c.36C>T (p.Arg12=)	not provided [RCV005413808]	likely benign	2	197705441	197705441	Human		name
13474729	CV463227	single nucleotide variant	NM_004990.4(MARS1):c.66C>T (p.Ala22=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV000547066]\|not specified [RCV004024325]	likely benign	12	57488156	57488156	Human	2	name
14742339	CV655408	single nucleotide variant	NM_138395.4(MARS2):c.93G>T (p.Ser31=)	not provided [RCV000841318]	likely benign	2	197705498	197705498	Human		name
126733096	CV1000811	single nucleotide variant	NM_004990.4(MARS1):c.147T>C (p.Pro49=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005213521]\|not provided [RCV001310996]	likely benign	12	57489056	57489056	Human	2	name
126766905	CV1034119	single nucleotide variant	NM_001365902.3(NFIX):c.309C>G (p.Cys103Trp)	Marshall-Smith syndrome [RCV001342608]	uncertain significance	19	13025302	13025302	Human	1	trait
127245630	CV1064648	single nucleotide variant	NM_001365902.3(NFIX):c.120C>G (p.Tyr40Ter)	Marshall-Smith syndrome [RCV001384392]	pathogenic	19	13025113	13025113	Human	1	trait
127275929	CV1084448	single nucleotide variant	NM_001365902.3(NFIX):c.28-327C>T	Marshall-Smith syndrome [RCV001406984]	likely benign	19	13024694	13024694	Human	1	trait
127271353	CV1101296	single nucleotide variant	NM_004990.4(MARS1):c.180C>T (p.Phe60=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV001441816]	likely benign	12	57489089	57489089	Human	2	name
8591071	CV125795	single nucleotide variant	NM_004990.4(MARS1):c.13G>A (p.Val5Met)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002228218]\|Spastic paraplegia 70, autosomal recessive [RCV003223339]	pathogenic\|uncertain significance	12	57488103	57488103	Human	3	name
150544070	CV1310160	single nucleotide variant	NM_001365902.3(NFIX):c.697+2T>G	Marshall-Smith syndrome [RCV001771788]	pathogenic	19	13073498	13073498	Human	1	trait
150530953	CV1310488	deletion	NM_001365902.3(NFIX):c.247_270del (p.Ile83_Asp90del)	Marshall-Smith syndrome [RCV001775416]	likely pathogenic	19	13025235	13025258	Human	1	trait
151350146	CV1324609	duplication	NM_001365902.3(NFIX):c.912_921dup (p.Gln308fs)	Marshall-Smith syndrome [RCV001809054]	likely pathogenic	19	13075620	13075621	Human	1	trait
151811989	CV1393670	deletion	NM_001365902.3(NFIX):c.1073_1076del (p.Arg358fs)	Marshall-Smith syndrome [RCV001953916]	pathogenic	19	13078730	13078733	Human	1	trait
151892041	CV1399745	single nucleotide variant	NM_138395.4(MARS2):c.23G>T (p.Arg8Leu)	not provided [RCV001943695]	uncertain significance	2	197705428	197705428	Human		name
151807162	CV1417648	single nucleotide variant	NM_001365902.3(NFIX):c.1078+19C>T	Marshall-Smith syndrome [RCV001867658]	benign\|uncertain significance	19	13078754	13078754	Human	1	trait
151785054	CV1435291	deletion	NC_000019.9:g.(?_13186329)_(13189569_?)del	Marshall-Smith syndrome [RCV001916232]	pathogenic				Human	1	trait
151713688	CV1451131	duplication	NM_001365902.3(NFIX):c.149_155dup (p.Glu53fs)	Marshall-Smith syndrome [RCV002002495]	pathogenic	19	13025138	13025139	Human	1	trait
151795451	CV1482839	deletion	NM_001365902.3(NFIX):c.286_300del (p.Thr96_Pro100del)	Marshall-Smith syndrome [RCV002047498]	uncertain significance	19	13025278	13025292	Human	1	trait
152171103	CV1543957	single nucleotide variant	NM_001365902.3(NFIX):c.1078+20G>A	Marshall-Smith syndrome [RCV002161992]	benign	19	13078755	13078755	Human	1	trait
152092256	CV1545015	single nucleotide variant	NM_001365902.3(NFIX):c.1079-10G>C	Marshall-Smith syndrome [RCV002171982]	likely benign	19	13081670	13081670	Human	1	trait
152129328	CV1554621	single nucleotide variant	NM_001365902.3(NFIX):c.105G>A (p.Ala35=)	Marshall-Smith syndrome [RCV002176587]	likely benign	19	13025098	13025098	Human	1	trait
152089104	CV1577295	single nucleotide variant	NM_138395.4(MARS2):c.249G>A (p.Thr83=)	not provided [RCV002212476]	likely benign	2	197705654	197705654	Human		name
152151177	CV1578047	single nucleotide variant	NM_001365902.3(NFIX):c.1026G>A (p.Pro342=)	Marshall-Smith syndrome [RCV002158217]	benign	19	13078683	13078683	Human	1	trait
152119248	CV1593618	single nucleotide variant	NM_001365902.3(NFIX):c.1079-10G>T	Marshall-Smith syndrome [RCV002097923]	likely benign	19	13081670	13081670	Human	1	trait
152128849	CV1596620	single nucleotide variant	NM_001365902.3(NFIX):c.786G>A (p.Gly262=)	Marshall-Smith syndrome [RCV002118810]	likely benign	19	13073994	13073994	Human	1	trait
152062562	CV1612463	single nucleotide variant	NM_138395.4(MARS2):c.231C>T (p.Arg77=)	not provided [RCV002168181]	likely benign	2	197705636	197705636	Human		name
152113494	CV1623889	single nucleotide variant	NM_001365902.3(NFIX):c.690A>G (p.Val230=)	Marshall-Smith syndrome [RCV002134790]	likely benign	19	13073489	13073489	Human	1	trait
152136149	CV1634570	single nucleotide variant	NM_138395.4(MARS2):c.159C>T (p.Tyr53=)	not provided [RCV002218744]	likely benign	2	197705564	197705564	Human		name
152143835	CV1651555	single nucleotide variant	NM_138395.4(MARS2):c.183G>T (p.Gly61=)	not provided [RCV002138516]	likely benign	2	197705588	197705588	Human		name
152984753	CV1673584	single nucleotide variant	NM_004990.4(MARS1):c.231A>G (p.Gln77=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239191]	likely benign\|uncertain significance	12	57489297	57489297	Human	2	name
152984755	CV1673586	single nucleotide variant	NM_004990.4(MARS1):c.273G>A (p.Glu91=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239193]	likely benign	12	57489339	57489339	Human	2	name
152983157	CV1677991	deletion	NM_001365902.3(NFIX):c.163del (p.Ala55fs)	Marshall-Smith syndrome [RCV002250146]	pathogenic	19	13025154	13025154	Human	1	trait
153301354	CV1686890	deletion	NM_001365902.3(NFIX):c.226_242del (p.Leu76fs)	Marshall-Smith syndrome [RCV002262177]	pathogenic	19	13025219	13025235	Human	1	trait
155642818	CV1706399	duplication	NM_001365902.3(NFIX):c.1311_1313dup (p.Pro438_Val439insPro)	Marshall-Smith syndrome [RCV002287255]	uncertain significance	19	13088042	13088043	Human	1	trait
156181606	CV1868406	single nucleotide variant	NM_001365902.3(NFIX):c.463C>T (p.Gln155Ter)	Marshall-Smith syndrome [RCV003041362]	pathogenic	19	13025456	13025456	Human	1	trait
156390583	CV1869852	single nucleotide variant	NM_001365902.3(NFIX):c.28-368G>T	Marshall-Smith syndrome [RCV003067971]	likely benign\|uncertain significance	19	13024653	13024653	Human	1	trait
156391204	CV1872800	single nucleotide variant	NM_004990.4(MARS1):c.126C>T (p.Phe42=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003051339]	likely benign	12	57489035	57489035	Human	2	name
156409286	CV1873915	single nucleotide variant	NM_001365902.3(NFIX):c.393G>A (p.Leu131=)	Marshall-Smith syndrome [RCV003071608]	likely benign	19	13025386	13025386	Human	1	trait
155955281	CV1876681	single nucleotide variant	NM_001365902.3(NFIX):c.1267G>A (p.Gly423Ser)	Marshall-Smith syndrome [RCV003074378]	uncertain significance	19	13088001	13088001	Human	1	trait
156012330	CV1880574	single nucleotide variant	NM_001365902.3(NFIX):c.622+8C>G	Marshall-Smith syndrome [RCV003077162]	benign\|uncertain significance	19	13073117	13073117	Human	1	trait
156061173	CV1892381	single nucleotide variant	NM_001365902.3(NFIX):c.559G>T (p.Glu187Ter)	Marshall-Smith syndrome [RCV003079229]	pathogenic	19	13025552	13025552	Human	1	trait
155991530	CV1894383	single nucleotide variant	NM_001365902.3(NFIX):c.28-370G>A	Marshall-Smith syndrome [RCV003076137]	likely benign	19	13024651	13024651	Human	1	trait
155952914	CV1896401	single nucleotide variant	NM_138395.4(MARS2):c.202C>T (p.Leu68=)	not provided [RCV003095430]	likely benign	2	197705607	197705607	Human		name
156030484	CV1910701	single nucleotide variant	NM_004990.4(MARS1):c.120C>T (p.Val40=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002619830]	likely benign	12	57489029	57489029	Human	2	name
156353951	CV1933134	single nucleotide variant	NM_001365902.3(NFIX):c.28-322A>G	Marshall-Smith syndrome [RCV002651118]	likely benign	19	13024699	13024699	Human	1	trait
156436714	CV1942939	deletion	NC_000019.9:g.(?_13136156)_(13151380_?)del	Marshall-Smith syndrome [RCV003105756]	likely pathogenic				Human	1	trait
155963263	CV1952193	indel	NM_001365902.3(NFIX):c.1155_1156delinsAA (p.His386Asn)	Marshall-Smith syndrome [RCV002512470]	likely pathogenic	19	13081756	13081757	Human		trait
156397069	CV1959142	single nucleotide variant	NM_138395.4(MARS2):c.198A>G (p.Ala66=)	not provided [RCV002584471]	likely benign	2	197705603	197705603	Human		name
156412074	CV1969179	single nucleotide variant	NM_138395.4(MARS2):c.13T>A (p.Ser5Thr)	not provided [RCV002587697]\|not specified [RCV004064612]	uncertain significance	2	197705418	197705418	Human		name
156193159	CV1974639	single nucleotide variant	NM_138395.4(MARS2):c.216A>G (p.Leu72=)	not provided [RCV002625484]	likely benign	2	197705621	197705621	Human		name
156179135	CV1978727	single nucleotide variant	NM_001365902.3(NFIX):c.523C>T (p.Leu175=)	Marshall-Smith syndrome [RCV002595009]	likely benign	19	13025516	13025516	Human	1	trait
156216867	CV1980356	single nucleotide variant	NM_004990.4(MARS1):c.174C>T (p.Tyr58=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002626297]	likely benign	12	57489083	57489083	Human	2	name
156394264	CV1984352	single nucleotide variant	NM_138395.4(MARS2):c.147A>G (p.Thr49=)	not provided [RCV002635306]	likely benign	2	197705552	197705552	Human		name
156248434	CV1988991	single nucleotide variant	NM_001365902.3(NFIX):c.401T>C (p.Val134Ala)	Marshall-Smith syndrome [RCV002627370]	uncertain significance	19	13025394	13025394	Human	1	trait
155914461	CV1990372	single nucleotide variant	NM_138395.4(MARS2):c.16G>A (p.Val6Ile)	not provided [RCV002614228]	uncertain significance	2	197705421	197705421	Human		name
156144758	CV2002931	single nucleotide variant	NM_001365902.3(NFIX):c.1078+14G>A	Marshall-Smith syndrome [RCV002663697]	likely benign	19	13078749	13078749	Human	1	trait
156101634	CV2009813	single nucleotide variant	NM_138395.4(MARS2):c.26T>A (p.Leu9Gln)	not provided [RCV002706691]	uncertain significance	2	197705431	197705431	Human		name
155950211	CV2013937	single nucleotide variant	NM_001365902.3(NFIX):c.33G>A (p.Glu11=)	Marshall-Smith syndrome [RCV002685978]	likely benign	19	13025026	13025026	Human	1	trait
156091063	CV2016374	single nucleotide variant	NM_001365902.3(NFIX):c.28-355G>A	Marshall-Smith syndrome [RCV002706314]	likely benign	19	13024666	13024666	Human	1	trait
156040756	CV2026369	single nucleotide variant	NM_001365902.3(NFIX):c.555T>G (p.Thr185=)	Marshall-Smith syndrome [RCV002736174]	likely benign	19	13025548	13025548	Human	1	trait
155955356	CV2040094	deletion	NM_001365902.3(NFIX):c.559+23del	Marshall-Smith syndrome [RCV002775991]	benign	19	13025571	13025571	Human	1	trait
156006779	CV2041995	single nucleotide variant	NM_001365902.3(NFIX):c.42G>A (p.Pro14=)	Marshall-Smith syndrome [RCV002756471]	likely benign	19	13025035	13025035	Human	1	trait
156279139	CV2042676	single nucleotide variant	NM_001365902.3(NFIX):c.1185C>T (p.His395=)	Marshall-Smith syndrome [RCV002770318]	likely benign	19	13081786	13081786	Human	1	trait
156024359	CV2043378	single nucleotide variant	NM_001365902.3(NFIX):c.129G>A (p.Lys43=)	Marshall-Smith syndrome [RCV002780817]	likely benign	19	13025122	13025122	Human	1	trait
155942339	CV2055079	single nucleotide variant	NM_001365902.3(NFIX):c.67G>C (p.Val23Leu)	Marshall-Smith syndrome [RCV002815775]	uncertain significance	19	13025060	13025060	Human	1	trait
155972870	CV2062580	single nucleotide variant	NM_001365902.3(NFIX):c.818+16C>T	Marshall-Smith syndrome [RCV002842161]	likely benign\|uncertain significance	19	13074042	13074042	Human	1	trait
155947878	CV2068936	single nucleotide variant	NM_001365902.3(NFIX):c.235C>T (p.Leu79=)	Marshall-Smith syndrome [RCV002862181]	likely benign	19	13025228	13025228	Human	1	trait
156296289	CV2073507	single nucleotide variant	NM_001365902.3(NFIX):c.819-3C>T	Marshall-Smith syndrome [RCV002833415]	uncertain significance	19	13075532	13075532	Human	1	trait
155907440	CV2077441	deletion	NM_001365902.3(NFIX):c.1059del (p.Ala355fs)	Marshall-Smith syndrome [RCV002858242]	pathogenic	19	13078716	13078716	Human	1	trait
155954685	CV2077488	single nucleotide variant	NM_001365902.3(NFIX):c.846T>C (p.Asp282=)	Marshall-Smith syndrome [RCV002880697]	likely benign	19	13075562	13075562	Human	1	trait
155957167	CV2078382	single nucleotide variant	NM_001365902.3(NFIX):c.559+18A>T	Marshall-Smith syndrome [RCV002880827]	likely benign\|uncertain significance	19	13025570	13025570	Human	1	trait
10406946	CV208537	deletion	NM_001365902.3(NFIX):c.970_971del (p.Lys324fs)	Marshall-Smith syndrome [RCV000194821]	pathogenic	19	13078626	13078627	Human	1	trait
10406457	CV208538	deletion	NM_001365902.3(NFIX):c.1080_1096del (p.Ser361fs)	Marshall-Smith syndrome [RCV000192696]	pathogenic	19	13081680	13081696	Human	1	trait
155915718	CV2091730	single nucleotide variant	NM_001365902.3(NFIX):c.28-326G>A	Marshall-Smith syndrome [RCV002903070]	benign	19	13024695	13024695	Human	1	trait
156197297	CV2095403	single nucleotide variant	NM_001365902.3(NFIX):c.1263T>C (p.Gly421=)	Marshall-Smith syndrome [RCV002917661]	likely benign	19	13087997	13087997	Human	1	trait
156009548	CV2099962	single nucleotide variant	NM_001365902.3(NFIX):c.231C>T (p.Ala77=)	Marshall-Smith syndrome [RCV002909029]	likely benign	19	13025224	13025224	Human	1	trait
156111917	CV2104430	single nucleotide variant	NM_001365902.3(NFIX):c.1305G>A (p.Pro435=)	Marshall-Smith syndrome [RCV002927470]	likely benign	19	13088039	13088039	Human	1	trait
156220484	CV2107285	single nucleotide variant	NM_001365902.3(NFIX):c.1495-18T>C	Marshall-Smith syndrome [RCV002918542]	likely benign\|uncertain significance	19	13094617	13094617	Human	1	trait
156135707	CV2109567	single nucleotide variant	NM_001365902.3(NFIX):c.564C>T (p.Ser188=)	Marshall-Smith syndrome [RCV002914716]	benign	19	13073051	13073051	Human	1	trait
156217284	CV2111054	single nucleotide variant	NM_001365902.3(NFIX):c.559+18A>G	Marshall-Smith syndrome [RCV002932312]	likely benign\|uncertain significance	19	13025570	13025570	Human	1	trait
156231992	CV2118225	single nucleotide variant	NM_001365902.3(NFIX):c.426G>A (p.Leu142=)	Marshall-Smith syndrome [RCV002958545]	likely benign	19	13025419	13025419	Human	1	trait
155953995	CV2123707	microsatellite	NM_001365902.3(NFIX):c.1174CAC[5] (p.His395_Gly396insHis)	Marshall-Smith syndrome [RCV002972020]	likely benign\|uncertain significance	19	13081772	13081773	Human		trait
155936700	CV2125751	microsatellite	NM_001365902.3(NFIX):c.687_688dup (p.Val230fs)	Marshall-Smith syndrome [RCV002971000]	pathogenic	19	13073482	13073483	Human		trait
155993815	CV2125998	single nucleotide variant	NM_001365902.3(NFIX):c.1494+16C>G	Marshall-Smith syndrome [RCV002974855]	likely benign\|uncertain significance	19	13090406	13090406	Human	1	trait
156212484	CV2127814	single nucleotide variant	NM_001365902.3(NFIX):c.360G>A (p.Leu120=)	Marshall-Smith syndrome [RCV002957804]	likely benign	19	13025353	13025353	Human	1	trait
156384159	CV2128285	single nucleotide variant	NM_001365902.3(NFIX):c.422C>G (p.Pro141Arg)	Marshall-Smith syndrome [RCV002943364]	uncertain significance	19	13025415	13025415	Human	1	trait
156058779	CV2134127	single nucleotide variant	NM_001365902.3(NFIX):c.1179C>T (p.His393=)	Marshall-Smith syndrome [RCV003000126]	likely benign	19	13081780	13081780	Human	1	trait
156086659	CV2134582	single nucleotide variant	NM_001365902.3(NFIX):c.1495-15T>C	Marshall-Smith syndrome [RCV002979452]	likely benign	19	13094620	13094620	Human	1	trait
156245637	CV2149144	single nucleotide variant	NM_001365902.3(NFIX):c.187G>A (p.Glu63Lys)	Marshall-Smith syndrome [RCV003008259]	likely pathogenic	19	13025180	13025180	Human	1	trait
156396478	CV2178205	single nucleotide variant	NM_004990.4(MARS1):c.123G>C (p.Pro41=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003051890]	likely benign	12	57489032	57489032	Human	2	name
156127261	CV2183845	single nucleotide variant	NM_001365902.3(NFIX):c.28-15G>A	Marshall-Smith syndrome [RCV003039553]	benign	19	13025006	13025006	Human	1	trait
243050380	CV2415476	duplication	NM_001365902.3(NFIX):c.1090dup (p.Ala364fs)	Marshall-Smith syndrome [RCV003148046]	pathogenic	19	13081688	13081689	Human	1	trait
401829037	CV2668617	single nucleotide variant	NM_001365902.3(NFIX):c.486C>A (p.Cys162Ter)	Marshall-Smith syndrome [RCV003326709]	likely pathogenic	19	13025479	13025479	Human	1	trait
401857220	CV2752143	single nucleotide variant	NM_001365902.3(NFIX):c.908C>T (p.Ala303Val)	Marshall-Smith syndrome [RCV003336020]	uncertain significance	19	13075624	13075624	Human	1	trait
401964051	CV2844963	deletion	NM_001365902.3(NFIX):c.1459del (p.Asp487fs)	Marshall-Smith syndrome [RCV003484527]	likely pathogenic	19	13090353	13090353	Human	1	trait
405223930	CV3061482	single nucleotide variant	NM_138395.4(MARS2):c.214C>T (p.Leu72=)	not provided [RCV003733735]	likely benign	2	197705619	197705619	Human		name
405025257	CV3082075	single nucleotide variant	NM_001365902.3(NFIX):c.1199T>C (p.Leu400Pro)	Marshall-Smith syndrome [RCV003785681]	uncertain significance	19	13081800	13081800	Human	1	trait
405008614	CV3083198	single nucleotide variant	NM_001365902.3(NFIX):c.906A>C (p.Pro302=)	Marshall-Smith syndrome [RCV003784145]	likely benign	19	13075622	13075622	Human	1	trait
402521571	CV3086540	single nucleotide variant	NM_001365902.3(NFIX):c.459G>T (p.Ser153=)	Marshall-Smith syndrome [RCV003781156]	likely benign	19	13025452	13025452	Human	1	trait
402524569	CV3086767	single nucleotide variant	NM_001365902.3(NFIX):c.955+15G>C	Marshall-Smith syndrome [RCV003781385]	likely benign	19	13075686	13075686	Human	1	trait
404982215	CV3086779	single nucleotide variant	NM_001365902.3(NFIX):c.559+8G>A	Marshall-Smith syndrome [RCV003781397]	likely benign	19	13025560	13025560	Human	1	trait
404995968	CV3088473	single nucleotide variant	NM_001365902.3(NFIX):c.66C>T (p.His22=)	Marshall-Smith syndrome [RCV003793250]	likely benign	19	13025059	13025059	Human	1	trait
402508756	CV3088839	single nucleotide variant	NM_001365902.3(NFIX):c.621C>T (p.Asn207=)	Marshall-Smith syndrome [RCV003780043]	benign\|uncertain significance	19	13073108	13073108	Human	1	trait
402509802	CV3089137	single nucleotide variant	NM_001365902.3(NFIX):c.675G>A (p.Thr225=)	Marshall-Smith syndrome [RCV003780169]	likely benign	19	13073474	13073474	Human	1	trait
402512729	CV3089382	single nucleotide variant	NM_001365902.3(NFIX):c.933G>A (p.Gly311=)	Marshall-Smith syndrome [RCV003780414]	benign	19	13075649	13075649	Human	1	trait
402512899	CV3089396	single nucleotide variant	NM_001365902.3(NFIX):c.622+4A>G	Marshall-Smith syndrome [RCV003780428]	uncertain significance	19	13073113	13073113	Human	1	trait
402500708	CV3089625	microsatellite	NM_001365902.3(NFIX):c.28-340GT[6]	Marshall-Smith syndrome [RCV003788548]	uncertain significance	19	13024680	13024681	Human		trait
402487679	CV3090541	single nucleotide variant	NM_001365902.3(NFIX):c.612A>G (p.Pro204=)	Marshall-Smith syndrome [RCV003787203]	likely benign	19	13073099	13073099	Human	1	trait
402509081	CV3090806	single nucleotide variant	NM_001365902.3(NFIX):c.956-4C>T	Marshall-Smith syndrome [RCV003789423]	likely benign	19	13078609	13078609	Human	1	trait
402492273	CV3091183	single nucleotide variant	NM_001365902.3(NFIX):c.393G>C (p.Leu131=)	Marshall-Smith syndrome [RCV003787689]	likely benign	19	13025386	13025386	Human	1	trait
404992186	CV3091377	single nucleotide variant	NM_001365902.3(NFIX):c.582A>C (p.Ser194=)	Marshall-Smith syndrome [RCV003792852]	likely benign	19	13073069	13073069	Human	1	trait
404993277	CV3091500	single nucleotide variant	NM_001365902.3(NFIX):c.742C>T (p.Leu248=)	Marshall-Smith syndrome [RCV003792975]	likely benign	19	13073950	13073950	Human	1	trait
402520166	CV3091913	single nucleotide variant	NM_001365902.3(NFIX):c.1403-20C>T	Marshall-Smith syndrome [RCV003790359]	likely benign	19	13090279	13090279	Human	1	trait
402494176	CV3092249	single nucleotide variant	NM_001365902.3(NFIX):c.622+5G>A	Marshall-Smith syndrome [RCV003787868]	uncertain significance	19	13073114	13073114	Human	1	trait
402497927	CV3092825	single nucleotide variant	NM_001365902.3(NFIX):c.255C>T (p.Pro85=)	Marshall-Smith syndrome [RCV003788289]	likely benign	19	13025248	13025248	Human	1	trait
405018691	CV3094414	single nucleotide variant	NM_001365902.3(NFIX):c.1249G>A (p.Gly417Arg)	Marshall-Smith syndrome [RCV003785104]	uncertain significance	19	13081850	13081850	Human	1	trait
405020097	CV3094519	single nucleotide variant	NM_001365902.3(NFIX):c.141G>A (p.Arg47=)	Marshall-Smith syndrome [RCV003785210]	likely benign	19	13025134	13025134	Human	1	trait
405033110	CV3095408	single nucleotide variant	NM_001365902.3(NFIX):c.1078+13G>A	Marshall-Smith syndrome [RCV003796614]	likely benign	19	13078748	13078748	Human	1	trait
405007636	CV3096196	single nucleotide variant	NM_001365902.3(NFIX):c.1402+20G>A	Marshall-Smith syndrome [RCV003794346]	likely benign	19	13088156	13088156	Human	1	trait
405008654	CV3096282	single nucleotide variant	NM_001365902.3(NFIX):c.674C>A (p.Thr225Lys)	Marshall-Smith syndrome [RCV003794432]	uncertain significance	19	13073473	13073473	Human	1	trait
405008702	CV3096286	single nucleotide variant	NM_001365902.3(NFIX):c.477C>G (p.Pro159=)	Marshall-Smith syndrome [RCV003794436]	likely benign	19	13025470	13025470	Human	1	trait
404983845	CV3096388	single nucleotide variant	NM_001365902.3(NFIX):c.764A>G (p.Asn255Ser)	Marshall-Smith syndrome [RCV003791937]	uncertain significance	19	13073972	13073972	Human	1	trait
405028700	CV3098189	single nucleotide variant	NM_001365902.3(NFIX):c.384G>A (p.Arg128=)	Marshall-Smith syndrome [RCV003806482]	likely benign	19	13025377	13025377	Human	1	trait
405029624	CV3098260	single nucleotide variant	NM_001365902.3(NFIX):c.1066G>A (p.Gly356Arg)	Marshall-Smith syndrome [RCV003806553]	uncertain significance	19	13078723	13078723	Human	1	trait
405030990	CV3098395	single nucleotide variant	NM_001365902.3(NFIX):c.791G>T (p.Arg264Leu)	Marshall-Smith syndrome [RCV003806688]	uncertain significance	19	13073999	13073999	Human	1	trait
405031021	CV3098398	single nucleotide variant	NM_001365902.3(NFIX):c.398T>C (p.Met133Thr)	Marshall-Smith syndrome [RCV003806691]	uncertain significance	19	13025391	13025391	Human	1	trait
404978300	CV3098995	single nucleotide variant	NM_001365902.3(NFIX):c.765C>T (p.Asn255=)	Marshall-Smith syndrome [RCV003790975]	likely benign	19	13073973	13073973	Human	1	trait
405000550	CV3099302	single nucleotide variant	NM_001365902.3(NFIX):c.1266C>T (p.Ser422=)	Marshall-Smith syndrome [RCV003793723]	likely benign	19	13088000	13088000	Human	1	trait
404981764	CV3099990	single nucleotide variant	NM_001365902.3(NFIX):c.567A>G (p.Gly189=)	Marshall-Smith syndrome [RCV003791657]	likely benign	19	13073054	13073054	Human	1	trait
405001582	CV3101822	deletion	NM_001365902.3(NFIX):c.818+9_818+16del	Marshall-Smith syndrome [RCV003804036]	benign	19	13074031	13074038	Human	1	trait
405001676	CV3101832	single nucleotide variant	NM_001365902.3(NFIX):c.336C>T (p.Gly112=)	Marshall-Smith syndrome [RCV003804046]	benign	19	13025329	13025329	Human	1	trait
405026174	CV3101881	single nucleotide variant	NM_001365902.3(NFIX):c.1494+18C>T	Marshall-Smith syndrome [RCV003806287]	likely benign	19	13090408	13090408	Human	1	trait
405062791	CV3102969	single nucleotide variant	NM_001365902.3(NFIX):c.1403-14C>T	Marshall-Smith syndrome [RCV003798960]	likely benign	19	13090285	13090285	Human	1	trait
405063235	CV3103006	single nucleotide variant	NM_001365902.3(NFIX):c.1495-10C>T	Marshall-Smith syndrome [RCV003798997]	likely benign	19	13094625	13094625	Human	1	trait
405094109	CV3105509	single nucleotide variant	NM_001365902.3(NFIX):c.1204G>T (p.Glu402Ter)	Marshall-Smith syndrome [RCV003801226]	pathogenic	19	13081805	13081805	Human	1	trait
405095645	CV3105645	single nucleotide variant	NM_001365902.3(NFIX):c.956-14C>T	Marshall-Smith syndrome [RCV003801362]	likely benign	19	13078599	13078599	Human	1	trait
405037057	CV3106260	single nucleotide variant	NM_001365902.3(NFIX):c.1160C>T (p.Pro387Leu)	Marshall-Smith syndrome [RCV003796951]	uncertain significance	19	13081761	13081761	Human	1	trait
405088072	CV3108064	single nucleotide variant	NM_001365902.3(NFIX):c.622+10C>T	Marshall-Smith syndrome [RCV003800762]	likely benign	19	13073119	13073119	Human	1	trait
405062335	CV3108513	deletion	NM_001365902.3(NFIX):c.316_324del (p.Ser106_Pro108del)	Marshall-Smith syndrome [RCV003809091]	uncertain significance	19	13025308	13025316	Human	1	trait
405069907	CV3111147	deletion	NM_001365902.3(NFIX):c.515_518del (p.Ile172fs)	Marshall-Smith syndrome [RCV003809651]	pathogenic	19	13025505	13025508	Human	1	trait
405127126	CV3112024	single nucleotide variant	NM_001365902.3(NFIX):c.1078+9T>A	Marshall-Smith syndrome [RCV003815497]	likely benign	19	13078744	13078744	Human	1	trait
405108669	CV3112359	single nucleotide variant	NM_001365902.3(NFIX):c.55C>T (p.Leu19=)	Marshall-Smith syndrome [RCV003813202]	likely benign	19	13025048	13025048	Human	1	trait
405039095	CV3112700	single nucleotide variant	NM_001365902.3(NFIX):c.731C>G (p.Ser244Cys)	Marshall-Smith syndrome [RCV003807367]	likely benign	19	13073939	13073939	Human	1	trait
405042314	CV3112967	single nucleotide variant	NM_001365902.3(NFIX):c.697+17T>C	Marshall-Smith syndrome [RCV003807634]	likely benign	19	13073513	13073513	Human	1	trait
405042328	CV3112968	single nucleotide variant	NM_001365902.3(NFIX):c.769A>G (p.Asn257Asp)	Marshall-Smith syndrome [RCV003807635]	likely benign	19	13073977	13073977	Human	1	trait
405104755	CV3113040	single nucleotide variant	NM_001365902.3(NFIX):c.942C>T (p.Asn314=)	Marshall-Smith syndrome [RCV003812330]	benign	19	13075658	13075658	Human	1	trait
405104642	CV3114449	single nucleotide variant	NM_001365902.3(NFIX):c.230C>G (p.Ala77Gly)	Marshall-Smith syndrome [RCV003812288]	uncertain significance	19	13025223	13025223	Human	1	trait
405080606	CV3114825	deletion	NM_001365902.3(NFIX):c.275_288del (p.Val92fs)	Marshall-Smith syndrome [RCV003810388]	pathogenic	19	13025266	13025279	Human	1	trait
405281616	CV3224241	single nucleotide variant	NM_001365902.3(NFIX):c.1079-1G>A	Marshall-Smith syndrome [RCV003988623]	not provided	19	13081679	13081679	Human		trait
405658522	CV3281680	single nucleotide variant	NM_138395.4(MARS2):c.22C>A (p.Arg8Ser)	not specified [RCV004416501]	uncertain significance	2	197705427	197705427	Human		name
405867382	CV3394336	single nucleotide variant	NM_001365902.3(NFIX):c.484T>G (p.Cys162Gly)	Marshall-Smith syndrome [RCV004566453]	uncertain significance	19	13025477	13025477	Human	1	trait
405876213	CV3407297	duplication	NC_000019.9:g.(?_13135448)_(13136386_?)dup	Marshall-Smith syndrome [RCV004581125]	uncertain significance				Human	1	trait
596925006	CV3541776	single nucleotide variant	NM_001365902.3(NFIX):c.410T>G (p.Phe137Cys)	Marshall-Smith syndrome [RCV004795487]	likely pathogenic	19	13025403	13025403	Human	1	trait
597720974	CV3733620	deletion	NM_001365902.3(NFIX):c.1112del (p.Phe371fs)	Marshall-Smith syndrome [RCV005052925]	likely pathogenic	19	13081712	13081712	Human	1	trait
597863195	CV3822775	single nucleotide variant	NM_138395.4(MARS2):c.195G>C (p.Ser65=)	not provided [RCV005175307]	uncertain significance	2	197705600	197705600	Human		name
597885472	CV3854822	single nucleotide variant	NM_138395.4(MARS2):c.234C>G (p.Leu78=)	not provided [RCV005199667]	uncertain significance	2	197705639	197705639	Human		name
597858282	CV3864774	single nucleotide variant	NM_001365902.3(NFIX):c.623-8C>T	Marshall-Smith syndrome [RCV005213830]	likely benign	19	13073414	13073414	Human	1	trait
597858892	CV3864852	single nucleotide variant	NM_001365902.3(NFIX):c.698-5C>G	Marshall-Smith syndrome [RCV005213909]	likely benign	19	13073901	13073901	Human	1	trait
597895408	CV3865366	single nucleotide variant	NM_001365902.3(NFIX):c.1402+10C>T	Marshall-Smith syndrome [RCV005219489]	likely benign	19	13088146	13088146	Human	1	trait
597921484	CV3865761	single nucleotide variant	NM_001365902.3(NFIX):c.141G>C (p.Arg47=)	Marshall-Smith syndrome [RCV005223567]	likely benign	19	13025134	13025134	Human	1	trait
597921499	CV3865763	single nucleotide variant	NM_001365902.3(NFIX):c.39C>T (p.His13=)	Marshall-Smith syndrome [RCV005223569]	likely benign	19	13025032	13025032	Human	1	trait
597885265	CV3866469	single nucleotide variant	NM_001365902.3(NFIX):c.937C>T (p.Pro313Ser)	Marshall-Smith syndrome [RCV005217945]	likely benign	19	13075653	13075653	Human	1	trait
597892178	CV3868005	single nucleotide variant	NM_001365902.3(NFIX):c.946G>A (p.Val316Met)	Marshall-Smith syndrome [RCV005219033]	uncertain significance	19	13075662	13075662	Human	1	trait
597841682	CV3868319	single nucleotide variant	NM_001365902.3(NFIX):c.198G>A (p.Glu66=)	Marshall-Smith syndrome [RCV005211352]	likely benign	19	13025191	13025191	Human	1	trait
597919199	CV3868584	single nucleotide variant	NM_001365902.3(NFIX):c.67G>T (p.Val23Phe)	Marshall-Smith syndrome [RCV005223261]	uncertain significance	19	13025060	13025060	Human	1	trait
597881012	CV3869065	deletion	NM_001365902.3(NFIX):c.341_353del (p.Ile114fs)	Marshall-Smith syndrome [RCV005217321]	pathogenic	19	13025332	13025344	Human	1	trait
597881018	CV3869066	single nucleotide variant	NM_001365902.3(NFIX):c.644G>A (p.Cys215Tyr)	Marshall-Smith syndrome [RCV005217322]	likely benign	19	13073443	13073443	Human	1	trait
597869285	CV3869537	deletion	NM_001365902.3(NFIX):c.956-3del	Marshall-Smith syndrome [RCV005215468]	benign	19	13078605	13078605	Human	1	trait
597871139	CV3870018	single nucleotide variant	NM_001365902.3(NFIX):c.888C>T (p.Pro296=)	Marshall-Smith syndrome [RCV005215748]	likely benign	19	13075604	13075604	Human	1	trait
597877870	CV3871813	single nucleotide variant	NM_001365902.3(NFIX):c.1078+13G>T	Marshall-Smith syndrome [RCV005216864]	likely benign	19	13078748	13078748	Human	1	trait
597878811	CV3871952	single nucleotide variant	NM_001365902.3(NFIX):c.163G>A (p.Ala55Thr)	Marshall-Smith syndrome [RCV005217003]	uncertain significance	19	13025156	13025156	Human	1	trait
597865010	CV3872537	single nucleotide variant	NM_001365902.3(NFIX):c.818+7C>T	Marshall-Smith syndrome [RCV005214812]	likely benign	19	13074033	13074033	Human	1	trait
597848844	CV3872884	single nucleotide variant	NM_001365902.3(NFIX):c.420C>A (p.Ile140=)	Marshall-Smith syndrome [RCV005212521]	likely benign	19	13025413	13025413	Human	1	trait
597848917	CV3872893	single nucleotide variant	NM_001365902.3(NFIX):c.1104C>T (p.Ala368=)	Marshall-Smith syndrome [RCV005212530]	likely benign	19	13081705	13081705	Human	1	trait
597840434	CV3873517	single nucleotide variant	NM_001365902.3(NFIX):c.883T>C (p.Tyr295His)	Marshall-Smith syndrome [RCV005226344]	uncertain significance	19	13075599	13075599	Human	1	trait
597853296	CV3873759	single nucleotide variant	NM_001365902.3(NFIX):c.819-11T>C	Marshall-Smith syndrome [RCV005228544]	likely benign	19	13075524	13075524	Human	1	trait
597926447	CV3873987	single nucleotide variant	NM_001365902.3(NFIX):c.1402+19C>T	Marshall-Smith syndrome [RCV005224258]	likely benign	19	13088155	13088155	Human	1	trait
597837023	CV3874532	single nucleotide variant	NM_001365902.3(NFIX):c.1495-12A>G	Marshall-Smith syndrome [RCV005210453]	likely benign	19	13094623	13094623	Human	1	trait
597862435	CV3875218	single nucleotide variant	NM_001365902.3(NFIX):c.1079-11C>T	Marshall-Smith syndrome [RCV005214395]	likely benign	19	13081669	13081669	Human	1	trait
597846954	CV3876364	duplication	NM_001365902.3(NFIX):c.122dup (p.Lys42fs)	Marshall-Smith syndrome [RCV005212258]	pathogenic	19	13025113	13025114	Human	1	trait
597901767	CV3876691	single nucleotide variant	NM_001365902.3(NFIX):c.28-322A>C	Marshall-Smith syndrome [RCV005220389]	likely benign	19	13024699	13024699	Human	1	trait
597849607	CV3876866	single nucleotide variant	NM_001365902.3(NFIX):c.1408G>C (p.Ala470Pro)	Marshall-Smith syndrome [RCV005228093]	uncertain significance	19	13090304	13090304	Human	1	trait
597850067	CV3876921	single nucleotide variant	NM_001365902.3(NFIX):c.1122G>A (p.Thr374=)	Marshall-Smith syndrome [RCV005228148]	likely benign	19	13081723	13081723	Human	1	trait
597923950	CV3877219	deletion	NM_001365902.3(NFIX):c.28-329_28-299del	Marshall-Smith syndrome [RCV005223915]	uncertain significance	19	13024683	13024713	Human	1	trait
597840003	CV3877614	single nucleotide variant	NM_001365902.3(NFIX):c.1115C>T (p.Pro372Leu)	Marshall-Smith syndrome [RCV005226268]	uncertain significance	19	13081716	13081716	Human	1	trait
597842344	CV3878262	single nucleotide variant	NM_001365902.3(NFIX):c.1402+11G>A	Marshall-Smith syndrome [RCV005226751]	likely benign	19	13088147	13088147	Human	1	trait
597844480	CV3878778	single nucleotide variant	NM_001365902.3(NFIX):c.279G>T (p.Leu93=)	Marshall-Smith syndrome [RCV005227108]	likely benign	19	13025272	13025272	Human	1	trait
597915931	CV3879058	single nucleotide variant	NM_001365902.3(NFIX):c.1378G>A (p.Ala460Thr)	Marshall-Smith syndrome [RCV005222594]	uncertain significance	19	13088112	13088112	Human	1	trait
597914197	CV3880099	single nucleotide variant	NM_001365902.3(NFIX):c.330G>A (p.Gln110=)	Marshall-Smith syndrome [RCV005222338]	likely benign	19	13025323	13025323	Human	1	trait
598232985	CV3886506	single nucleotide variant	NM_001365902.3(NFIX):c.697+1G>A	Marshall-Smith syndrome [RCV005255950]	likely pathogenic	19	13073497	13073497	Human	1	trait
13216654	CV430127	duplication	NM_001365902.3(NFIX):c.927dup (p.Ser310fs)	Marshall-Smith syndrome [RCV000503907]	pathogenic	19	13075641	13075642	Human	1	trait
8603088	CV45614	microsatellite	NM_001365902.3(NFIX):c.1011_1012del (p.Gln338fs)	Marshall-Smith syndrome [RCV000030637]	pathogenic	19	13078665	13078666	Human		trait
8654830	CV45615	duplication	NM_001365902.3(NFIX):c.1037dup (p.Thr347fs)	Marshall-Smith syndrome [RCV000030638]	pathogenic	19	13078691	13078692	Human	1	trait
8603089	CV45616	microsatellite	NM_001365902.3(NFIX):c.1008_1012del (p.Ser337fs)	Marshall-Smith syndrome [RCV000030639]	pathogenic	19	13078659	13078663	Human		trait
8654831	CV45617	duplication	NM_001365902.3(NFIX):c.1049dup (p.Leu351fs)	Marshall-Smith syndrome [RCV000030640]	pathogenic	19	13078703	13078704	Human	1	trait
8603090	CV45618	deletion	NM_001365902.3(NFIX):c.1243del (p.Ala415fs)	Marshall-Smith syndrome [RCV000030641]	pathogenic	19	13081843	13081843	Human	1	trait
8654832	CV45619	duplication	NM_001365902.3(NFIX):c.994dup (p.Cys332fs)	Marshall-Smith syndrome [RCV000030642]	pathogenic	19	13078650	13078651	Human	1	trait
8654833	CV45620	duplication	NM_001365902.3(NFIX):c.959dup (p.Ala321fs)	Marshall-Smith syndrome [RCV000030643]	pathogenic	19	13078613	13078614	Human	1	trait
13472218	CV463092	single nucleotide variant	NM_004990.4(MARS1):c.132C>T (p.Thr44=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV000530343]\|not specified [RCV004024318]	likely benign	12	57489041	57489041	Human	2	name
13467211	CV469909	deletion	NC_000019.9:g.(?_13106632)_(13428155_?)del	Marshall-Smith syndrome [RCV000543828]	pathogenic				Human	1	trait
13786136	CV480574	single nucleotide variant	NM_001365902.3(NFIX):c.416G>A (p.Gly139Glu)	Marshall-Smith syndrome [RCV000677236]	pathogenic	19	13025409	13025409	Human	1	trait
13624718	CV527305	single nucleotide variant	NM_004990.4(MARS1):c.144C>A (p.Val48=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002534177]	likely benign	12	57489053	57489053	Human	2	name
13622987	CV533138	deletion	NM_001365902.3(NFIX):c.358del (p.Leu120fs)	Marshall-Smith syndrome [RCV000650505]	pathogenic	19	13025350	13025350	Human	1	trait
13809988	CV570514	single nucleotide variant	NM_001365902.3(NFIX):c.787C>T (p.Arg263Trp)	Marshall-Smith syndrome [RCV001452074]	likely benign\|uncertain significance	19	13073995	13073995	Human	1	trait
13818550	CV572021	deletion	NC_000019.10:g.(?_13075535)_(13078735_?)del	Marshall-Smith syndrome [RCV000707751]	pathogenic	19	13075535	13078735	Human	1	trait
13804968	CV572231	single nucleotide variant	NM_001365902.3(NFIX):c.988G>A (p.Asp330Asn)	Marshall-Smith syndrome [RCV000685480]	uncertain significance	19	13078645	13078645	Human	1	trait
13814173	CV572931	single nucleotide variant	NM_001365902.3(NFIX):c.955+2T>C	Marshall-Smith syndrome [RCV000704861]	likely pathogenic	19	13075673	13075673	Human	1	trait
14395656	CV611430	single nucleotide variant	NM_001365902.3(NFIX):c.136A>T (p.Lys46Ter)	Marshall-Smith syndrome [RCV000760224]	pathogenic	19	13025129	13025129	Human	1	trait
14396455	CV612165	deletion	NM_001365902.3(NFIX):c.834del (p.Lys279fs)	Marshall-Smith syndrome [RCV000761317]	likely pathogenic	19	13075547	13075547	Human	1	trait
14703060	CV647721	single nucleotide variant	NM_001365902.3(NFIX):c.232A>T (p.Lys78Ter)	Marshall-Smith syndrome [RCV000791914]	pathogenic	19	13025225	13025225	Human	1	trait
14702309	CV653449	duplication	NC_000019.9:g.(?_13186329)_(13189569_?)dup	Marshall-Smith syndrome [RCV000823261]	pathogenic	19	13075515	13078755	Human	1	trait
15015224	CV679805	deletion	NM_001365902.3(NFIX):c.933_943del (p.Trp312fs)	Marshall-Smith syndrome [RCV000853379]	pathogenic	19	13075648	13075658	Human	1	trait
15015258	CV679863	duplication	NM_001365902.3(NFIX):c.1131_1137dup (p.Ser380fs)	Marshall-Smith syndrome [RCV000853419]	pathogenic	19	13081731	13081732	Human	1	trait
15146875	CV694335	single nucleotide variant	NM_001365902.3(NFIX):c.1143C>T (p.Ser381=)	Marshall-Smith syndrome [RCV000878634]	likely benign	19	13081744	13081744	Human	1	trait
15175331	CV704762	single nucleotide variant	NM_001365902.3(NFIX):c.252G>T (p.Arg84=)	Marshall-Smith syndrome [RCV000950551]	likely benign	19	13025245	13025245	Human	1	trait
15132399	CV716186	single nucleotide variant	NM_001365902.3(NFIX):c.600G>A (p.Ala200=)	Marshall-Smith syndrome [RCV000964769]	likely benign	19	13073087	13073087	Human	1	trait
15182890	CV741592	single nucleotide variant	NM_001365902.3(NFIX):c.628T>C (p.Leu210=)	Marshall-Smith syndrome [RCV002540769]	likely benign	19	13073427	13073427	Human	1	trait
15138280	CV741594	single nucleotide variant	NM_001365902.3(NFIX):c.1161G>A (p.Pro387=)	Marshall-Smith syndrome [RCV002065668]	likely benign	19	13081762	13081762	Human	1	trait
15137212	CV747141	single nucleotide variant	NM_138395.4(MARS2):c.156C>T (p.Phe52=)	not provided [RCV000921134]	likely benign	2	197705561	197705561	Human		name
15100011	CV772428	single nucleotide variant	NM_001365902.3(NFIX):c.48C>T (p.Ile16=)	Marshall-Smith syndrome [RCV003768883]	likely benign	19	13025041	13025041	Human	1	trait
15182653	CV772429	single nucleotide variant	NM_001365902.3(NFIX):c.138G>A (p.Lys46=)	Marshall-Smith syndrome [RCV001447947]	likely benign	19	13025131	13025131	Human	1	trait
15116393	CV772430	single nucleotide variant	NM_001365902.3(NFIX):c.309C>T (p.Cys103=)	Marshall-Smith syndrome [RCV001443147]	likely benign	19	13025302	13025302	Human	1	trait
15195175	CV772431	single nucleotide variant	NM_001365902.3(NFIX):c.1248C>G (p.Thr416=)	Marshall-Smith syndrome [RCV002544470]	likely benign	19	13081849	13081849	Human	1	trait
15103083	CV778613	single nucleotide variant	NM_001365902.3(NFIX):c.560-6C>T	Marshall-Smith syndrome [RCV001483730]	likely benign	19	13073041	13073041	Human	1	trait
21073110	CV791899	deletion	NM_001365902.3(NFIX):c.327_340del (p.Gln110fs)	Marshall-Smith syndrome [RCV000990160]	pathogenic	19	13025318	13025331	Human	1	trait
21073112	CV791900	deletion	NM_001365902.3(NFIX):c.799_812del (p.Thr267fs)	Marshall-Smith syndrome [RCV000990162]	pathogenic	19	13074005	13074018	Human	1	trait
26895931	CV821239	deletion	NC_000019.10:g.(?_13087969)_(13094669_?)del	Marshall-Smith syndrome [RCV001033644]	pathogenic				Human	1	trait
8628212	CV83356	single nucleotide variant	NM_001365902.3(NFIX):c.153C>G (p.Asp51Glu)	Marshall-Smith syndrome [RCV005213017]	likely benign\|not provided	19	13025146	13025146	Human	1	trait
26887113	CV847322	duplication	NM_001365902.3(NFIX):c.60_75dup (p.Phe26fs)	Marshall-Smith syndrome [RCV001044662]	pathogenic	19	13025049	13025050	Human	1	trait
26891271	CV847323	single nucleotide variant	NM_001365902.3(NFIX):c.113G>T (p.Arg38Leu)	Marshall-Smith syndrome [RCV001046374]	uncertain significance	19	13025106	13025106	Human	1	trait
26892605	CV847324	single nucleotide variant	NM_001365902.3(NFIX):c.1423T>C (p.Ser475Pro)	Marshall-Smith syndrome [RCV001068760]	uncertain significance	19	13090319	13090319	Human	1	trait
26889972	CV855085	deletion	NM_001365902.3(NFIX):c.1456del (p.Arg486fs)	Marshall-Smith syndrome [RCV001072120]	pathogenic	19	13090349	13090349	Human	1	trait
26903287	CV855086	deletion	NM_001365902.3(NFIX):c.819-484_1079-700del	Marshall-Smith syndrome [RCV001072121]	pathogenic	19	13075028	13080957	Human	1	trait
26889974	CV855087	deletion	NM_001365902.3(NFIX):c.818+561_956-804del	Marshall-Smith syndrome [RCV001072122]	pathogenic	19	13074582	13077804	Human	1	trait
38463638	CV919823	deletion	NM_001365902.3(NFIX):c.77del (p.Phe26fs)	Marshall-Smith syndrome [RCV001199203]	pathogenic	19	13025068	13025068	Human	1	trait
38459610	CV919824	single nucleotide variant	NM_001365902.3(NFIX):c.1139C>T (p.Ser380Leu)	Marshall-Smith syndrome [RCV001195981]	uncertain significance	19	13081740	13081740	Human	1	trait
38462925	CV919825	deletion	NM_001365902.3(NFIX):c.1449del (p.Ile483fs)	Marshall-Smith syndrome [RCV001198775]	likely pathogenic	19	13090345	13090345	Human	1	trait
38490930	CV941225	single nucleotide variant	NM_001365902.3(NFIX):c.818+5G>A	Marshall-Smith syndrome [RCV001222486]	uncertain significance	19	13074031	13074031	Human	1	trait
38492746	CV958545	single nucleotide variant	NM_001365902.3(NFIX):c.1247C>G (p.Thr416Ser)	Marshall-Smith syndrome [RCV001240287]	uncertain significance	19	13081848	13081848	Human	1	trait
126744357	CV998384	single nucleotide variant	NM_001365902.3(NFIX):c.379T>C (p.Trp127Arg)	Marshall-Smith syndrome [RCV001305835]	uncertain significance	19	13025372	13025372	Human	1	trait
127241106	CV1079536	single nucleotide variant	NM_004990.4(MARS1):c.432C>T (p.Ala144=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV001397919]	likely benign	12	57489913	57489913	Human	2	name
127288680	CV1152509	deletion	NM_004990.4(MARS1):c.212del (p.Leu71fs)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002564258]\|not provided [RCV001508697]\|not specified [RCV004037896]	likely benign\|uncertain significance	12	57489270	57489270	Human	2	name
150331649	CV1168886	single nucleotide variant	NM_138395.4(MARS2):c.720C>T (p.His240=)	not provided [RCV001536563]	likely benign	2	197706125	197706125	Human		name
150407887	CV1177642	single nucleotide variant	NM_004990.4(MARS1):c.31G>A (p.Gly11Ser)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003771676]\|not provided [RCV001545719]	uncertain significance	12	57488121	57488121	Human	2	name
150426064	CV1183080	single nucleotide variant	NM_138395.4(MARS2):c.43G>A (p.Ala15Thr)	not provided [RCV001558862]	conflicting interpretations of pathogenicity\|uncertain significance	2	197705448	197705448	Human		name
150413812	CV1196792	single nucleotide variant	NM_138395.4(MARS2):c.549C>T (p.Thr183=)	not provided [RCV001574738]	likely benign	2	197705954	197705954	Human		name
8691904	CV141870	single nucleotide variant	NM_138395.4(MARS2):c.471C>T (p.Arg157=)	not provided [RCV000961420]\|not specified [RCV000126686]	benign	2	197705876	197705876	Human		name
152051480	CV1538674	single nucleotide variant	NM_138395.4(MARS2):c.417G>C (p.Thr139=)	not provided [RCV002189466]	likely benign	2	197705822	197705822	Human		name
152041203	CV1553476	single nucleotide variant	NM_138395.4(MARS2):c.549C>G (p.Thr183=)	not provided [RCV002087985]	likely benign	2	197705954	197705954	Human		name
152978992	CV1673572	single nucleotide variant	NM_004990.4(MARS1):c.67C>G (p.Arg23Gly)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239680]	uncertain significance	12	57488157	57488157	Human	2	name
152978994	CV1673573	single nucleotide variant	NM_004990.4(MARS1):c.68G>A (p.Arg23Gln)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239681]	uncertain significance	12	57488158	57488158	Human	2	name
152978996	CV1673574	single nucleotide variant	NM_004990.4(MARS1):c.70G>A (p.Gly24Ser)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239682]	uncertain significance	12	57488160	57488160	Human	2	name
152984773	CV1673608	single nucleotide variant	NM_004990.4(MARS1):c.867C>T (p.Leu289=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239211]	likely benign	12	57498253	57498253	Human	2	name
152984774	CV1673609	single nucleotide variant	NM_004990.4(MARS1):c.873C>G (p.Ala291=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239212]	likely benign	12	57498259	57498259	Human	2	name
152984779	CV1673617	single nucleotide variant	NM_004990.4(MARS1):c.999C>T (p.Cys333=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239217]	likely benign	12	57498531	57498531	Human	2	name
155794549	CV1857311	single nucleotide variant	NM_004990.4(MARS1):c.98T>C (p.Val33Ala)	not specified [RCV004067370]	uncertain significance	12	57488188	57488188	Human		name
155802566	CV1857563	duplication	NM_004990.4(MARS1):c.112dup (p.Cys38fs)	not specified [RCV004067469]	uncertain significance	12	57489019	57489020	Human		name
155794633	CV1857727	single nucleotide variant	NM_004990.4(MARS1):c.79G>A (p.Glu27Lys)	not specified [RCV004067521]	uncertain significance	12	57488169	57488169	Human		name
156073237	CV1889864	single nucleotide variant	NM_004990.4(MARS1):c.822C>T (p.Tyr274=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003079611]	likely benign	12	57498208	57498208	Human	2	name
156404653	CV1916664	single nucleotide variant	NM_138395.4(MARS2):c.88A>T (p.Ser30Cys)	not provided [RCV002606147]\|not specified [RCV005377300]	uncertain significance	2	197705493	197705493	Human		name
156356711	CV1917672	single nucleotide variant	NM_004990.4(MARS1):c.966T>C (p.Ala322=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002632388]	likely benign	12	57498498	57498498	Human	2	name
156027155	CV1918907	single nucleotide variant	NM_004990.4(MARS1):c.89T>G (p.Ile30Ser)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002636998]	uncertain significance	12	57488179	57488179	Human	2	name
156129346	CV1962628	single nucleotide variant	NM_138395.4(MARS2):c.795C>A (p.Gly265=)	not provided [RCV002572168]	likely benign	2	197706200	197706200	Human		name
156410895	CV1966023	single nucleotide variant	NM_004990.4(MARS1):c.423A>G (p.Glu141=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002587307]\|not provided [RCV005232997]	likely benign	12	57489904	57489904	Human	2	name
156116190	CV1972835	single nucleotide variant	NM_138395.4(MARS2):c.861C>T (p.Leu287=)	not provided [RCV002592957]	likely benign	2	197706266	197706266	Human		name
156414006	CV1979228	single nucleotide variant	NM_004990.4(MARS1):c.849C>T (p.Asn283=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002609010]\|not provided [RCV003395498]	likely benign	12	57498235	57498235	Human	2	name
155984512	CV1979523	single nucleotide variant	NM_004990.4(MARS1):c.972G>A (p.Glu324=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002617749]	likely benign	12	57498504	57498504	Human	2	name
156086883	CV1983786	single nucleotide variant	NM_138395.4(MARS2):c.918T>C (p.His306=)	not provided [RCV002621726]	likely benign	2	197706323	197706323	Human		name
156207458	CV2000722	single nucleotide variant	NM_138395.4(MARS2):c.819G>C (p.Ser273=)	not provided [RCV002666719]	likely benign	2	197706224	197706224	Human		name
156298495	CV2005643	single nucleotide variant	NM_004990.4(MARS1):c.86T>C (p.Leu29Pro)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002671052]	uncertain significance	12	57488176	57488176	Human	2	name
155907557	CV2027714	single nucleotide variant	NM_004990.4(MARS1):c.73A>G (p.Arg25Gly)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002726566]	uncertain significance	12	57488163	57488163	Human	2	name
156014073	CV2046414	single nucleotide variant	NM_004990.4(MARS1):c.615G>A (p.Gln205=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002795258]	likely benign	12	57490331	57490331	Human	2	name
156122358	CV2052379	single nucleotide variant	NM_004990.4(MARS1):c.918C>T (p.Leu306=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002825350]	likely benign	12	57498450	57498450	Human	2	name
156130413	CV2084854	single nucleotide variant	NM_004990.4(MARS1):c.564T>G (p.Thr188=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002871613]	uncertain significance	12	57490280	57490280	Human	2	name
10411013	CV210725	single nucleotide variant	NM_138395.4(MARS2):c.61C>G (p.Leu21Val)	Spastic ataxia 3 [RCV005397272]\|not provided [RCV002023299]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	197705466	197705466	Human	1	name
10410914	CV210727	single nucleotide variant	NM_138395.4(MARS2):c.606A>G (p.Pro202=)	not provided [RCV000964881]\|not specified [RCV000199160]	benign	2	197706011	197706011	Human		name
155944219	CV2111356	single nucleotide variant	NM_138395.4(MARS2):c.38C>T (p.Thr13Met)	not provided [RCV002904670]	uncertain significance	2	197705443	197705443	Human		name
156335964	CV2113862	single nucleotide variant	NM_004990.4(MARS1):c.71G>C (p.Gly24Ala)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002938636]	uncertain significance	12	57488161	57488161	Human	2	name
155979418	CV2162945	single nucleotide variant	NM_138395.4(MARS2):c.753C>G (p.Pro251=)	not provided [RCV003033808]	likely benign	2	197706158	197706158	Human		name
156396470	CV2178204	deletion	NM_004990.4(MARS1):c.119del (p.Val40fs)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003051889]	uncertain significance	12	57489028	57489028	Human	2	name
402507516	CV2944477	single nucleotide variant	NM_138395.4(MARS2):c.648C>T (p.Ser216=)	not provided [RCV003662216]	likely benign	2	197706053	197706053	Human		name
402484469	CV3002052	single nucleotide variant	NM_138395.4(MARS2):c.855C>T (p.Asn285=)	not provided [RCV003686924]	uncertain significance	2	197706260	197706260	Human		name
402508770	CV3042297	single nucleotide variant	NM_138395.4(MARS2):c.723A>G (p.Val241=)	not provided [RCV003715475]	likely benign	2	197706128	197706128	Human		name
405218423	CV3049127	single nucleotide variant	NM_138395.4(MARS2):c.993G>A (p.Pro331=)	not provided [RCV003732958]	likely benign	2	197706398	197706398	Human		name
405204390	CV3058024	single nucleotide variant	NM_138395.4(MARS2):c.783C>T (p.His261=)	not provided [RCV003731145]	likely benign	2	197706188	197706188	Human		name
405228162	CV3065732	single nucleotide variant	NM_138395.4(MARS2):c.447C>T (p.His149=)	not provided [RCV003734420]	likely benign	2	197705852	197705852	Human		name
402514759	CV3085681	single nucleotide variant	NM_004990.4(MARS1):c.576G>A (p.Gln192=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003780611]	likely benign	12	57490292	57490292	Human	2	name
402517103	CV3089903	single nucleotide variant	NM_004990.4(MARS1):c.31G>C (p.Gly11Arg)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003780781]	uncertain significance	12	57488121	57488121	Human	2	name
404990388	CV3094659	single nucleotide variant	NM_004990.4(MARS1):c.363G>C (p.Leu121=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003792673]	likely benign	12	57489507	57489507	Human	2	name
405053911	CV3094992	single nucleotide variant	NM_004990.4(MARS1):c.534C>T (p.Thr178=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003798306]	likely benign	12	57490250	57490250	Human	2	name
405049855	CV3107271	single nucleotide variant	NM_004990.4(MARS1):c.618C>T (p.Pro206=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003808189]	likely benign	12	57490334	57490334	Human	2	name
405238977	CV3169650	single nucleotide variant	NM_138395.4(MARS2):c.876C>T (p.Tyr292=)	not provided [RCV003866738]	likely benign	2	197706281	197706281	Human		name
596948229	CV3549310	single nucleotide variant	NM_138395.4(MARS2):c.762C>G (p.Ser254=)	not provided [RCV004812130]	likely benign	2	197706167	197706167	Human		name
12839403	CV366842	single nucleotide variant	NM_138395.4(MARS2):c.322C>T (p.Leu108=)	not provided [RCV000900472]\|not specified [RCV000428750]	benign	2	197705727	197705727	Human		name
12833086	CV366850	single nucleotide variant	NM_138395.4(MARS2):c.801G>C (p.Pro267=)	not provided [RCV000895048]	benign\|likely benign	2	197706206	197706206	Human		name
597636752	CV3697648	single nucleotide variant	NM_138395.4(MARS2):c.89G>C (p.Ser30Thr)	not specified [RCV004940843]	uncertain significance	2	197705494	197705494	Human		name
12841929	CV372473	single nucleotide variant	NM_004990.4(MARS1):c.369C>T (p.His123=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV001422410]\|not provided [RCV001712228]\|not specified [RCV004022355]	likely benign	12	57489513	57489513	Human	2	name
597969364	CV3753307	single nucleotide variant	NM_138395.4(MARS2):c.753C>T (p.Pro251=)	not provided [RCV005083791]	uncertain significance	2	197706158	197706158	Human		name
12837148	CV375357	single nucleotide variant	NM_004990.4(MARS1):c.873C>T (p.Ala291=)	Charcot-Marie-Tooth disease [RCV001174285]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV000652566]\|not provided [RCV001810928]\|not specified [RCV000424671]	benign\|likely benign	12	57498259	57498259	Human	3	name
597937019	CV3787801	single nucleotide variant	NM_138395.4(MARS2):c.687C>T (p.Asn229=)	not provided [RCV005132680]	uncertain significance	2	197706092	197706092	Human		name
597921245	CV3865724	single nucleotide variant	NM_004990.4(MARS1):c.846G>T (p.Gly282=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005223530]	uncertain significance	12	57498232	57498232	Human	2	name
597838280	CV3866962	single nucleotide variant	NM_004990.4(MARS1):c.315C>T (p.Val105=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005225954]	likely benign	12	57489459	57489459	Human	2	name
597895215	CV3868753	single nucleotide variant	NM_004990.4(MARS1):c.564T>C (p.Thr188=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005219459]	likely benign	12	57490280	57490280	Human	2	name
597854650	CV3870514	single nucleotide variant	NM_004990.4(MARS1):c.951A>C (p.Ala317=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005228715]	likely benign	12	57498483	57498483	Human	2	name
597878039	CV3871839	duplication	NM_004990.4(MARS1):c.212dup (p.Leu71fs)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005216890]	uncertain significance	12	57489269	57489270	Human	2	name
597880153	CV3872169	single nucleotide variant	NM_004990.4(MARS1):c.681C>T (p.Thr227=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005217221]	likely benign	12	57490555	57490555	Human	2	name
597863794	CV3875380	single nucleotide variant	NM_004990.4(MARS1):c.681C>G (p.Thr227=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005214557]	likely benign	12	57490555	57490555	Human	2	name
597858843	CV3877969	single nucleotide variant	NM_004990.4(MARS1):c.58G>A (p.Gly20Arg)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005229279]	uncertain significance	12	57488148	57488148	Human	2	name
598199002	CV3985525	single nucleotide variant	NM_138395.4(MARS2):c.86A>T (p.Tyr29Phe)	not specified [RCV005375632]	uncertain significance	2	197705491	197705491	Human		name
13445956	CV437938	single nucleotide variant	NM_004990.4(MARS1):c.747G>A (p.Pro249=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV000557196]\|not provided [RCV000513080]\|not specified [RCV004023460]	likely benign\|uncertain significance	12	57490621	57490621	Human	2	name
13476923	CV462380	single nucleotide variant	NM_004990.4(MARS1):c.95C>G (p.Thr32Ser)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV000560096]\|not specified [RCV004024330]	uncertain significance	12	57488185	57488185	Human	2	name
13472980	CV463119	single nucleotide variant	NM_004990.4(MARS1):c.792G>A (p.Arg264=)	Charcot-Marie-Tooth disease [RCV001173664]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002232639]\|not provided [RCV000535522]\|not specified [RCV000600485]	likely benign	12	57498178	57498178	Human	3	name
13474259	CV463237	single nucleotide variant	NM_004990.4(MARS1):c.477C>T (p.Pro159=)	Charcot-Marie-Tooth disease [RCV001174283]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV001086599]\|not provided [RCV001811069]\|not specified [RCV004024324]	benign\|likely benign	12	57489958	57489958	Human	3	name
13474513	CV463243	single nucleotide variant	NM_004990.4(MARS1):c.801C>T (p.Leu267=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV000545732]\|not provided [RCV001722518]\|not specified [RCV004024326]	benign\|likely benign	12	57498187	57498187	Human	2	name
13476380	CV463248	single nucleotide variant	NM_004990.4(MARS1):c.831T>C (p.Asn277=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV000556910]\|not specified [RCV004024327]	likely benign	12	57498217	57498217	Human	2	name
13531475	CV499880	single nucleotide variant	NM_138395.4(MARS2):c.933C>T (p.Asp311=)	not specified [RCV000601062]	likely benign	2	197706338	197706338	Human		name
13540144	CV504014	single nucleotide variant	NM_004990.4(MARS1):c.505C>T (p.Leu169=)	not specified [RCV000614293]	likely benign	12	57490221	57490221	Human		name
13624716	CV527831	single nucleotide variant	NM_004990.4(MARS1):c.915C>T (p.Thr305=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV000652567]\|not specified [RCV004025874]	likely benign	12	57498447	57498447	Human	2	name
15146320	CV693253	single nucleotide variant	NM_004990.4(MARS1):c.46C>G (p.Leu16Val)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV001459938]	likely benign	12	57488136	57488136	Human	2	name
15147188	CV693254	single nucleotide variant	NM_004990.4(MARS1):c.496C>T (p.Leu166=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV000878699]	likely benign	12	57490212	57490212	Human	2	name
15178625	CV713681	single nucleotide variant	NM_004990.4(MARS1):c.300G>T (p.Leu100=)	not provided [RCV000973711]	likely benign	12	57489444	57489444	Human		name
15177080	CV733058	single nucleotide variant	NM_138395.4(MARS2):c.411C>A (p.Arg137=)	not provided [RCV000906568]	likely benign	2	197705816	197705816	Human		name
15137431	CV747142	single nucleotide variant	NM_138395.4(MARS2):c.318G>C (p.Ala106=)	not provided [RCV000921170]	likely benign	2	197705723	197705723	Human		name
15139310	CV753522	single nucleotide variant	NM_004990.4(MARS1):c.483C>T (p.Tyr161=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003768837]	likely benign	12	57489964	57489964	Human	2	name
15140006	CV781105	single nucleotide variant	NM_138395.4(MARS2):c.489C>T (p.Gly163=)	not provided [RCV000982743]	likely benign	2	197705894	197705894	Human		name
21074289	CV796806	single nucleotide variant	NM_004990.4(MARS1):c.738T>C (p.Ser246=)	not provided [RCV000994936]	likely benign	12	57490612	57490612	Human		name
8625252	CV80371	single nucleotide variant	NM_138395.3(MARS2):c.684C>A (p.Gly228=)	Malignant melanoma [RCV000060448]	not provided	2	197706089	197706089	Human		name
26901437	CV840139	single nucleotide variant	NM_004990.4(MARS1):c.330G>T (p.Gly110=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV001057852]	likely benign\|uncertain significance	12	57489474	57489474	Human	2	name
38488270	CV926689	single nucleotide variant	NM_004990.4(MARS1):c.38T>C (p.Leu13Ser)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV001221140]	uncertain significance	12	57488128	57488128	Human	2	name
127232559	CV1079535	single nucleotide variant	NM_004990.4(MARS1):c.238C>T (p.Leu80Phe)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV001413510]\|not specified [RCV004038106]	likely benign	12	57489304	57489304	Human	2	name
127258208	CV1079537	single nucleotide variant	NM_004990.4(MARS1):c.2313G>T (p.Leu771=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV001419510]	likely benign	12	57515258	57515258	Human	2	name
127282847	CV1079538	single nucleotide variant	NM_004990.4(MARS1):c.2629T>C (p.Leu877=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV001411419]	likely benign	12	57516507	57516507	Human	2	name
127305232	CV1143637	single nucleotide variant	NM_004990.4(MARS1):c.2115G>A (p.Leu705=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV001479734]	likely benign	12	57514969	57514969	Human	2	name
150337558	CV1166063	single nucleotide variant	NM_004990.4(MARS1):c.1284C>T (p.Val428=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002241570]\|not provided [RCV001532699]	likely benign	12	57500513	57500513	Human	2	name
151232967	CV1317678	single nucleotide variant	NM_138395.4(MARS2):c.182G>A (p.Gly61Glu)	not provided [RCV001787444]\|not specified [RCV004040836]	uncertain significance	2	197705587	197705587	Human		name
151351213	CV1321133	single nucleotide variant	NM_004990.4(MARS1):c.2094G>A (p.Lys698=)	not provided [RCV001810793]	likely benign	12	57514846	57514846	Human		name
151743960	CV1406812	single nucleotide variant	NM_138395.4(MARS2):c.151A>G (p.Ile51Val)	not provided [RCV002006102]	uncertain significance	2	197705556	197705556	Human		name
152984748	CV1673579	single nucleotide variant	NM_004990.4(MARS1):c.115G>A (p.Val39Met)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239186]	uncertain significance	12	57489024	57489024	Human	2	name
152984749	CV1673580	single nucleotide variant	NM_004990.4(MARS1):c.188G>A (p.Ser63Asn)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239187]	uncertain significance	12	57489097	57489097	Human	2	name
152984754	CV1673585	single nucleotide variant	NM_004990.4(MARS1):c.266C>T (p.Ala89Val)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239192]\|not specified [RCV004047357]	uncertain significance	12	57489332	57489332	Human	2	name
152984756	CV1673587	single nucleotide variant	NM_004990.4(MARS1):c.277C>T (p.Gln93Ter)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239194]\|not specified [RCV002469459]	uncertain significance	12	57489343	57489343	Human	2	name
152984787	CV1673626	single nucleotide variant	NM_004990.4(MARS1):c.1212G>A (p.Val404=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239225]	likely benign	12	57500441	57500441	Human	2	name
152984795	CV1673634	single nucleotide variant	NM_004990.4(MARS1):c.1338G>A (p.Ser446=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239233]	likely benign	12	57504269	57504269	Human	2	name
152984796	CV1673635	single nucleotide variant	NM_004990.4(MARS1):c.1338G>C (p.Ser446=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239234]	likely benign	12	57504269	57504269	Human	2	name
152984799	CV1673639	single nucleotide variant	NM_004990.4(MARS1):c.1393T>C (p.Leu465=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239237]	likely benign	12	57511722	57511722	Human	2	name
152984805	CV1673645	single nucleotide variant	NM_004990.4(MARS1):c.1488C>T (p.Thr496=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239243]	likely benign	12	57511817	57511817	Human	2	name
152984807	CV1673647	single nucleotide variant	NM_004990.4(MARS1):c.1524A>G (p.Glu508=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239245]	likely benign	12	57511853	57511853	Human	2	name
152985059	CV1673650	single nucleotide variant	NM_004990.4(MARS1):c.1581C>T (p.Ser527=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239696]	likely benign	12	57512049	57512049	Human	2	name
152984811	CV1673654	single nucleotide variant	NM_004990.4(MARS1):c.1642C>T (p.Leu548=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239249]	likely benign	12	57512242	57512242	Human	2	name
152984813	CV1673656	single nucleotide variant	NM_004990.4(MARS1):c.1716G>A (p.Glu572=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239251]	likely benign	12	57512316	57512316	Human	2	name
152985063	CV1673665	single nucleotide variant	NM_004990.4(MARS1):c.1911C>T (p.Asp637=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239700]	likely benign	12	57512908	57512908	Human	2	name
152984823	CV1673671	single nucleotide variant	NM_004990.4(MARS1):c.2001C>A (p.Gly667=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239261]	likely benign	12	57514753	57514753	Human	2	name
152978534	CV1673684	single nucleotide variant	NM_004990.4(MARS1):c.2235A>C (p.Ala745=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002236567]	likely benign	12	57515180	57515180	Human	2	name
152978558	CV1673690	single nucleotide variant	NM_004990.4(MARS1):c.2295C>A (p.Ala765=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002236573]	likely benign	12	57515240	57515240	Human	2	name
152985070	CV1673693	single nucleotide variant	NM_004990.4(MARS1):c.2340C>A (p.Ile780=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239707]	likely benign	12	57515285	57515285	Human	2	name
152978571	CV1673698	single nucleotide variant	NM_004990.4(MARS1):c.2415G>A (p.Leu805=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002236577]	uncertain significance	12	57515943	57515943	Human	2	name
152978601	CV1673707	single nucleotide variant	NM_004990.4(MARS1):c.2574A>G (p.Glu858=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002236584]	likely benign	12	57516452	57516452	Human	2	name
152978604	CV1673708	single nucleotide variant	NM_004990.4(MARS1):c.2619G>C (p.Val873=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002236585]	likely benign	12	57516497	57516497	Human	2	name
152978608	CV1673709	single nucleotide variant	NM_004990.4(MARS1):c.2622G>A (p.Ala874=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002236586]	likely benign	12	57516500	57516500	Human	2	name
155642289	CV1706216	single nucleotide variant	NM_138395.4(MARS2):c.247A>G (p.Thr83Ala)	not provided [RCV002287079]\|not specified [RCV004047589]	likely benign\|uncertain significance	2	197705652	197705652	Human		name
155802040	CV1857130	single nucleotide variant	NM_004990.4(MARS1):c.224G>A (p.Trp75Ter)	not specified [RCV004066551]	pathogenic	12	57489290	57489290	Human		name
155802314	CV1857396	single nucleotide variant	NM_004990.4(MARS1):c.134G>A (p.Arg45Gln)	not specified [RCV004067402]	uncertain significance	12	57489043	57489043	Human		name
156350720	CV1869986	single nucleotide variant	NM_138395.4(MARS2):c.199C>G (p.Leu67Val)	not provided [RCV003064823]	uncertain significance	2	197705604	197705604	Human		name
156314974	CV1875945	single nucleotide variant	NM_004990.4(MARS1):c.295G>T (p.Ala99Ser)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003062689]	uncertain significance	12	57489439	57489439	Human	2	name
156010605	CV1880386	single nucleotide variant	NM_004990.4(MARS1):c.1830G>A (p.Thr610=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003077065]	likely benign	12	57512827	57512827	Human	2	name
156274975	CV1880545	single nucleotide variant	NM_004990.4(MARS1):c.1296G>A (p.Lys432=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003060856]	likely benign	12	57504227	57504227	Human	2	name
156406501	CV1891133	single nucleotide variant	NM_138395.4(MARS2):c.1302G>A (p.Gly434=)	not provided [RCV003070387]	likely benign	2	197706707	197706707	Human		name
156180844	CV1901721	single nucleotide variant	NM_004990.4(MARS1):c.2001C>T (p.Gly667=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002595057]	likely benign	12	57514753	57514753	Human	2	name
156366991	CV1908598	single nucleotide variant	NM_138395.4(MARS2):c.1398C>T (p.Asn466=)	not provided [RCV002582132]	likely benign	2	197706803	197706803	Human		name
156397084	CV1959146	single nucleotide variant	NM_004990.4(MARS1):c.148G>A (p.Val50Ile)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002584474]	uncertain significance	12	57489057	57489057	Human	2	name
156137799	CV1963002	single nucleotide variant	NM_004990.4(MARS1):c.2286G>A (p.Thr762=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002572460]	uncertain significance	12	57515231	57515231	Human	2	name
156338314	CV1964078	single nucleotide variant	NM_004990.4(MARS1):c.1221C>T (p.Phe407=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002580365]	likely benign	12	57500450	57500450	Human	2	name
156140851	CV1973596	single nucleotide variant	NM_138395.4(MARS2):c.1602G>A (p.Lys534=)	not provided [RCV002593826]	likely benign	2	197707007	197707007	Human		name
156040136	CV1998978	single nucleotide variant	NM_004990.4(MARS1):c.265G>A (p.Ala89Thr)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002659003]	uncertain significance	12	57489331	57489331	Human	2	name
156356841	CV2006599	single nucleotide variant	NM_138395.4(MARS2):c.1356A>G (p.Ala452=)	not provided [RCV002675984]	likely benign	2	197706761	197706761	Human		name
156288590	CV2012968	single nucleotide variant	NM_138395.4(MARS2):c.1074T>A (p.Pro358=)	not provided [RCV002715561]	likely benign	2	197706479	197706479	Human		name
156256507	CV2025956	single nucleotide variant	NM_004990.4(MARS1):c.1200C>T (p.Phe400=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002746164]	likely benign	12	57500429	57500429	Human	2	name
156310985	CV2031555	single nucleotide variant	NM_004990.4(MARS1):c.2694G>A (p.Lys898=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002716533]	likely benign	12	57516572	57516572	Human	2	name
156143204	CV2033029	single nucleotide variant	NM_004990.4(MARS1):c.2019G>A (p.Val673=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002740970]	likely benign	12	57514771	57514771	Human	2	name
156004110	CV2041836	single nucleotide variant	NM_004990.4(MARS1):c.109G>A (p.Asp37Asn)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002756345]	uncertain significance	12	57488199	57488199	Human	2	name
155913277	CV2065910	deletion	NM_138395.4(MARS2):c.847del (p.Leu283fs)	not provided [RCV002837869]	uncertain significance	2	197706250	197706250	Human		name
156349201	CV2069332	deletion	NM_138395.4(MARS2):c.325del (p.Ala109fs)	not provided [RCV002811652]	uncertain significance	2	197705729	197705729	Human		name
156245183	CV2086172	single nucleotide variant	NM_004990.4(MARS1):c.2679C>T (p.Ala893=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002876743]	likely benign	12	57516557	57516557	Human	2	name
155985066	CV2097564	single nucleotide variant	NM_004990.4(MARS1):c.2352C>T (p.Asn784=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002882116]	likely benign	12	57515297	57515297	Human	2	name
156027099	CV2100495	single nucleotide variant	NM_004990.4(MARS1):c.2223G>C (p.Val741=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002885231]	likely benign	12	57515168	57515168	Human	2	name
155989378	CV2105601	single nucleotide variant	NM_004990.4(MARS1):c.1428C>G (p.Pro476=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002947258]\|not provided [RCV004809869]	likely benign	12	57511757	57511757	Human	2	name
10409298	CV210726	single nucleotide variant	NM_138395.4(MARS2):c.145A>G (p.Thr49Ala)	not provided [RCV000195832]	likely pathogenic	2	197705550	197705550	Human		name
10409761	CV210731	single nucleotide variant	NM_138395.4(MARS2):c.1615C>T (p.Leu539=)	not provided [RCV000883682]\|not specified [RCV000196797]	benign	2	197707020	197707020	Human		name
156124749	CV2124841	single nucleotide variant	NM_004990.4(MARS1):c.2256C>T (p.Leu752=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002953641]	likely benign	12	57515201	57515201	Human	2	name
155948053	CV2127270	single nucleotide variant	NM_004990.4(MARS1):c.1797T>C (p.Gly599=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002971700]	likely benign	12	57512794	57512794	Human	2	name
155948580	CV2127305	single nucleotide variant	NM_004990.4(MARS1):c.1479C>G (p.Arg493=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002971728]	likely benign	12	57511808	57511808	Human	2	name
156162786	CV2135531	single nucleotide variant	NM_004990.4(MARS1):c.1380A>C (p.Arg460=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002983067]	likely benign	12	57511709	57511709	Human	2	name
156108961	CV2140050	single nucleotide variant	NM_138395.4(MARS2):c.115G>A (p.Asp39Asn)	not provided [RCV003002510]	uncertain significance	2	197705520	197705520	Human		name
156125815	CV2144815	single nucleotide variant	NM_004990.4(MARS1):c.2262C>T (p.Val754=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003003164]	likely benign	12	57515207	57515207	Human	2	name
155968566	CV2176323	single nucleotide variant	NM_004990.4(MARS1):c.1311C>T (p.Val437=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003033286]	likely benign	12	57504242	57504242	Human	2	name
156246095	CV2219042	single nucleotide variant	NM_004990.4(MARS1):c.118G>A (p.Val40Ile)	not specified [RCV004087211]	uncertain significance	12	57489027	57489027	Human		name
401729838	CV2686966	single nucleotide variant	NM_138395.4(MARS2):c.256A>T (p.Thr86Ser)	not specified [RCV004304296]	uncertain significance	2	197705661	197705661	Human		name
401918559	CV2794577	duplication	NM_004990.4(MARS1):c.638dup (p.Arg214fs)	Charcot-Marie-Tooth disease axonal type 2U [RCV003388255]	likely pathogenic\|no classifications from unflagged records	12	57490351	57490352	Human	1	name
401930011	CV2819472	single nucleotide variant	NM_138395.4(MARS2):c.1311G>A (p.Gly437=)	not provided [RCV003440120]	likely benign	2	197706716	197706716	Human		name
401917423	CV2819473	single nucleotide variant	NM_138395.4(MARS2):c.1347G>C (p.Leu449=)	not provided [RCV003429490]	likely benign\|conflicting interpretations of pathogenicity	2	197706752	197706752	Human		name
401964139	CV2843516	single nucleotide variant	NM_004990.4(MARS1):c.1842T>G (p.Ala614=)	not specified [RCV003479859]	likely benign	12	57512839	57512839	Human		name
402504598	CV2927580	single nucleotide variant	NM_138395.4(MARS2):c.1401T>C (p.Phe467=)	not provided [RCV003574335]	uncertain significance	2	197706806	197706806	Human		name
405250127	CV2997267	single nucleotide variant	NM_138395.4(MARS2):c.241C>A (p.Pro81Thr)	not provided [RCV003721536]	uncertain significance	2	197705646	197705646	Human		name
405001246	CV3082217	single nucleotide variant	NM_004990.4(MARS1):c.2230T>C (p.Leu744=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003783474]	likely benign	12	57515175	57515175	Human	2	name
404989729	CV3084120	single nucleotide variant	NM_004990.4(MARS1):c.165C>G (p.Ser55Arg)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003782312]	uncertain significance	12	57489074	57489074	Human	2	name
405024957	CV3085120	single nucleotide variant	NM_004990.4(MARS1):c.1233G>A (p.Glu411=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003795986]	likely benign	12	57500462	57500462	Human	2	name
402509418	CV3086956	single nucleotide variant	NM_004990.4(MARS1):c.1560T>C (p.Asp520=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003789466]	likely benign	12	57512028	57512028	Human	2	name
402514360	CV3087554	single nucleotide variant	NM_004990.4(MARS1):c.1284C>G (p.Val428=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003789905]	likely benign	12	57500513	57500513	Human	2	name
405020932	CV3087928	single nucleotide variant	NM_004990.4(MARS1):c.200G>A (p.Arg67Gln)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003795488]	uncertain significance	12	57489109	57489109	Human	2	name
405022407	CV3088181	single nucleotide variant	NM_004990.4(MARS1):c.2079C>T (p.His693=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003795741]	likely benign	12	57514831	57514831	Human	2	name
402502778	CV3090011	single nucleotide variant	NM_004990.4(MARS1):c.1059T>A (p.Ile353=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003788777]	likely benign	12	57498591	57498591	Human	2	name
402503404	CV3090076	single nucleotide variant	NM_004990.4(MARS1):c.2139A>G (p.Arg713=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003788842]	likely benign	12	57514993	57514993	Human	2	name
405020598	CV3094572	single nucleotide variant	NM_004990.4(MARS1):c.280C>T (p.Pro94Ser)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003785263]	uncertain significance	12	57489424	57489424	Human	2	name
405004388	CV3095916	single nucleotide variant	NM_004990.4(MARS1):c.2481G>A (p.Lys827=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003794066]\|not provided [RCV003885382]	likely benign	12	57516262	57516262	Human	2	name
405048316	CV3097471	single nucleotide variant	NM_004990.4(MARS1):c.115G>C (p.Val39Leu)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003808051]	uncertain significance	12	57489024	57489024	Human	2	name
405053117	CV3098000	single nucleotide variant	NM_004990.4(MARS1):c.227A>C (p.Glu76Ala)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003808413]	uncertain significance	12	57489293	57489293	Human	2	name
405071061	CV3099842	single nucleotide variant	NM_004990.4(MARS1):c.1998G>A (p.Gly666=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003799557]	likely benign	12	57514750	57514750	Human	2	name
405072372	CV3099901	single nucleotide variant	NM_004990.4(MARS1):c.2625A>G (p.Lys875=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003799616]	likely benign	12	57516503	57516503	Human	2	name
404982300	CV3100076	single nucleotide variant	NM_004990.4(MARS1):c.2088T>C (p.Leu696=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003791743]	likely benign	12	57514840	57514840	Human	2	name
405057766	CV3102429	single nucleotide variant	NM_004990.4(MARS1):c.2370A>C (p.Pro790=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003798571]	likely benign	12	57515315	57515315	Human	2	name
405176808	CV3105264	single nucleotide variant	NM_004990.4(MARS1):c.137C>G (p.Pro46Arg)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003803587]	uncertain significance	12	57489046	57489046	Human	2	name
405095634	CV3105644	single nucleotide variant	NM_004990.4(MARS1):c.2196G>A (p.Glu732=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003801361]	likely benign	12	57515050	57515050	Human	2	name
405035674	CV3108616	single nucleotide variant	NM_004990.4(MARS1):c.2356C>T (p.Leu786=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003807074]	uncertain significance	12	57515301	57515301	Human	2	name
405159094	CV3109522	duplication	NM_004990.4(MARS1):c.712dup (p.Thr238fs)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003802046]	uncertain significance	12	57490585	57490586	Human	2	name
405077443	CV3109728	single nucleotide variant	NM_004990.4(MARS1):c.1914G>A (p.Leu638=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003810134]	likely benign	12	57512911	57512911	Human	2	name
405012540	CV3113999	single nucleotide variant	NM_004990.4(MARS1):c.2082G>A (p.Gln694=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003805021]	likely benign	12	57514834	57514834	Human	2	name
404980705	CV3121046	single nucleotide variant	NM_138395.4(MARS2):c.254C>T (p.Ala85Val)	not provided [RCV003826038]	uncertain significance	2	197705659	197705659	Human		name
405185119	CV3124244	single nucleotide variant	NM_138395.4(MARS2):c.1638G>A (p.Arg546=)	not provided [RCV003820443]	uncertain significance	2	197707043	197707043	Human		name
405167861	CV3160586	single nucleotide variant	NM_138395.4(MARS2):c.1098C>G (p.Thr366=)	not provided [RCV003857466]	likely benign	2	197706503	197706503	Human		name
405658524	CV3281681	single nucleotide variant	NM_138395.4(MARS2):c.253G>T (p.Ala85Ser)	not specified [RCV004416502]	uncertain significance	2	197705658	197705658	Human		name
407494877	CV3456905	single nucleotide variant	NM_004990.4(MARS1):c.180C>A (p.Phe60Leu)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005216286]\|not specified [RCV004643090]	uncertain significance	12	57489089	57489089	Human	2	name
408391724	CV3523351	single nucleotide variant	NM_138395.4(MARS2):c.194C>T (p.Ser65Leu)	not provided [RCV004770724]	uncertain significance	2	197705599	197705599	Human		name
408389207	CV3529269	single nucleotide variant	NM_138395.4(MARS2):c.169G>A (p.Ala57Thr)	not provided [RCV004774091]	uncertain significance	2	197705574	197705574	Human		name
12843837	CV366048	single nucleotide variant	NM_138395.4(MARS2):c.1287C>T (p.Phe429=)	not provided [RCV002061650]\|not specified [RCV000436946]	benign\|likely benign	2	197706692	197706692	Human		name
12844904	CV366049	single nucleotide variant	NM_138395.4(MARS2):c.1410T>C (p.Tyr470=)	not provided [RCV001721341]	likely benign	2	197706815	197706815	Human		name
12842106	CV366248	single nucleotide variant	NM_138395.4(MARS2):c.124G>A (p.Asp42Asn)	not provided [RCV000894129]	benign\|likely benign	2	197705529	197705529	Human		name
12836051	CV366295	single nucleotide variant	NM_138395.4(MARS2):c.1761G>T (p.Leu587=)	not provided [RCV000906685]	likely benign	2	197707166	197707166	Human		name
597636714	CV3697640	single nucleotide variant	NM_138395.4(MARS2):c.187C>G (p.Leu63Val)	not specified [RCV004940836]	uncertain significance	2	197705592	197705592	Human		name
597636746	CV3697646	single nucleotide variant	NM_138395.4(MARS2):c.106G>T (p.Ala36Ser)	not specified [RCV004940842]	uncertain significance	2	197705511	197705511	Human		name
12843021	CV372477	single nucleotide variant	NM_004990.4(MARS1):c.1209C>T (p.Gly403=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002230067]\|not specified [RCV000435476]	likely benign\|uncertain significance	12	57500438	57500438	Human	2	name
12842997	CV373176	single nucleotide variant	NM_004990.4(MARS1):c.1194C>T (p.Asp398=)	not specified [RCV000435428]	likely benign	12	57500423	57500423	Human		name
12832973	CV373192	single nucleotide variant	NM_004990.4(MARS1):c.1360C>T (p.Leu454=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV000874312]\|not provided [RCV001698285]\|not specified [RCV004022453]	benign\|likely benign	12	57504291	57504291	Human	2	name
12834966	CV373407	single nucleotide variant	NM_004990.4(MARS1):c.1500A>G (p.Lys500=)	Charcot-Marie-Tooth disease [RCV001174281]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV000545113]\|not provided [RCV001810919]\|not specified [RCV000420861]	benign	12	57511829	57511829	Human	3	name
12840754	CV375367	single nucleotide variant	NM_004990.4(MARS1):c.1689C>T (p.Val563=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV000560915]\|not specified [RCV000431304]	benign\|likely benign	12	57512289	57512289	Human	2	name
12833508	CV375377	single nucleotide variant	NM_004990.4(MARS1):c.2421T>C (p.Asn807=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002230278]\|not specified [RCV000418636]	likely benign	12	57515949	57515949	Human	2	name
12841853	CV375382	single nucleotide variant	NM_004990.4(MARS1):c.2532G>A (p.Ala844=)	Charcot-Marie-Tooth disease [RCV001174282]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV000524815]\|not provided [RCV001810915]\|not specified [RCV000433326]	benign	12	57516313	57516313	Human	3	name
597961217	CV3794857	single nucleotide variant	NM_138395.4(MARS2):c.206C>G (p.Ala69Gly)	not provided [RCV005138762]	uncertain significance	2	197705611	197705611	Human		name
597899943	CV3796494	single nucleotide variant	NM_138395.4(MARS2):c.1560T>C (p.Phe520=)	not provided [RCV005152577]	uncertain significance	2	197706965	197706965	Human		name
597871804	CV3849383	single nucleotide variant	NM_138395.4(MARS2):c.1326T>C (p.Ala442=)	not provided [RCV005197564]	uncertain significance	2	197706731	197706731	Human		name
597924838	CV3863360	single nucleotide variant	NM_004990.4(MARS1):c.271G>A (p.Glu91Lys)	not provided [RCV005205684]	uncertain significance	12	57489337	57489337	Human		name
597861245	CV3865320	single nucleotide variant	NM_004990.4(MARS1):c.2046G>T (p.Leu682=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005214214]	likely benign	12	57514798	57514798	Human	2	name
597883325	CV3865985	single nucleotide variant	NM_004990.4(MARS1):c.2622G>C (p.Ala874=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005217650]	likely benign	12	57516500	57516500	Human	2	name
597836754	CV3866672	single nucleotide variant	NM_004990.4(MARS1):c.1152G>T (p.Val384=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005225663]	likely benign	12	57500381	57500381	Human	2	name
597892080	CV3867992	single nucleotide variant	NM_004990.4(MARS1):c.1350G>A (p.Leu450=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005219020]	likely benign	12	57504281	57504281	Human	2	name
597841696	CV3868322	single nucleotide variant	NM_004990.4(MARS1):c.1893T>C (p.Ser631=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005211355]	likely benign	12	57512890	57512890	Human	2	name
597894496	CV3868525	single nucleotide variant	NM_004990.4(MARS1):c.2553A>G (p.Lys851=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005219379]	uncertain significance	12	57516334	57516334	Human	2	name
597919365	CV3868570	single nucleotide variant	NM_004990.4(MARS1):c.2413T>C (p.Leu805=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005223247]	likely benign	12	57515941	57515941	Human	2	name
597866443	CV3868921	single nucleotide variant	NM_004990.4(MARS1):c.136C>T (p.Pro46Ser)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005215042]	uncertain significance	12	57489045	57489045	Human	2	name
597867691	CV3869333	single nucleotide variant	NM_004990.4(MARS1):c.1917G>A (p.Leu639=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005215263]	likely benign	12	57512914	57512914	Human	2	name
597853247	CV3869786	single nucleotide variant	NM_004990.4(MARS1):c.155A>G (p.Gln52Arg)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005213071]	uncertain significance	12	57489064	57489064	Human	2	name
597853791	CV3869833	single nucleotide variant	NM_004990.4(MARS1):c.1170G>A (p.Glu390=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005213118]	likely benign	12	57500399	57500399	Human	2	name
597871234	CV3870034	single nucleotide variant	NM_004990.4(MARS1):c.2041C>T (p.Leu681=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005215764]	likely benign	12	57514793	57514793	Human	2	name
597878414	CV3871919	single nucleotide variant	NM_004990.4(MARS1):c.133C>T (p.Arg45Trp)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005216970]	uncertain significance	12	57489042	57489042	Human	2	name
597847558	CV3872711	single nucleotide variant	NM_004990.4(MARS1):c.2199T>G (p.Ala733=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005212347]	likely benign	12	57515053	57515053	Human	2	name
597848374	CV3872824	single nucleotide variant	NM_004990.4(MARS1):c.113G>T (p.Cys38Phe)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005212461]	uncertain significance	12	57489022	57489022	Human	2	name
597848727	CV3872869	single nucleotide variant	NM_004990.4(MARS1):c.2313G>A (p.Leu771=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005212506]	likely benign	12	57515258	57515258	Human	2	name
597857785	CV3877863	single nucleotide variant	NM_004990.4(MARS1):c.1779A>G (p.Lys593=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005229172]	likely benign	12	57512776	57512776	Human	2	name
597915721	CV3879025	single nucleotide variant	NM_004990.4(MARS1):c.2013G>A (p.Glu671=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005222561]	likely benign	12	57514765	57514765	Human	2	name
12894453	CV405533	single nucleotide variant	NM_138395.4(MARS2):c.175C>T (p.His59Tyr)	not provided [RCV000482869]	likely pathogenic\|conflicting interpretations of pathogenicity	2	197705580	197705580	Human		name
13475893	CV443130	deletion	NM_138395.4(MARS2):c.872del (p.Gly291fs)	not provided [RCV000520008]	likely pathogenic\|conflicting interpretations of pathogenicity	2	197706276	197706276	Human		name
13476818	CV462381	single nucleotide variant	NM_004990.4(MARS1):c.1812G>A (p.Gly604=)	Charcot-Marie-Tooth disease [RCV001174284]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV001086598]\|not provided [RCV001811068]\|not specified [RCV004024319]	benign\|likely benign	12	57512809	57512809	Human	3	name
13474892	CV462391	single nucleotide variant	NM_004990.4(MARS1):c.2163G>C (p.Val721=)	Charcot-Marie-Tooth disease [RCV001174275]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV000547806]\|not provided [RCV003886412]\|not specified [RCV004024321]	likely benign	12	57515017	57515017	Human	3	name
13471585	CV462396	single nucleotide variant	NM_004990.4(MARS1):c.2209C>A (p.Arg737=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV000526104]\|not provided [RCV004707342]	benign	12	57515154	57515154	Human	2	name
13473828	CV462397	single nucleotide variant	NM_004990.4(MARS1):c.2256C>G (p.Leu752=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV000540819]\|not specified [RCV004024322]	likely benign	12	57515201	57515201	Human	2	name
13474589	CV462641	single nucleotide variant	NM_004990.4(MARS1):c.1095C>T (p.Ile365=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV000546428]	likely benign	12	57500324	57500324	Human	2	name
13473589	CV463256	single nucleotide variant	NM_004990.4(MARS1):c.2613G>A (p.Ala871=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV000539514]\|not specified [RCV004024323]	likely benign	12	57516491	57516491	Human	2	name
13537238	CV504340	single nucleotide variant	NM_004990.4(MARS1):c.1389G>A (p.Glu463=)	not specified [RCV000610124]	likely benign	12	57511718	57511718	Human		name
13534185	CV504565	single nucleotide variant	NM_004990.4(MARS1):c.1881G>A (p.Glu627=)	not specified [RCV000601850]	likely benign	12	57512878	57512878	Human		name
13534159	CV504976	single nucleotide variant	NM_004990.4(MARS1):c.1995T>C (p.Phe665=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV001438144]\|not specified [RCV000607272]	likely benign	12	57514747	57514747	Human	2	name
13624720	CV527321	single nucleotide variant	NM_004990.4(MARS1):c.2511C>G (p.Ala837=)	Charcot-Marie-Tooth disease [RCV001174276]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV001487038]\|not provided [RCV000652572]\|not specified [RCV004025876]	likely benign	12	57516292	57516292	Human	3	name
13624719	CV527323	single nucleotide variant	NM_004990.4(MARS1):c.2610T>C (p.Ala870=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV001432764]\|not specified [RCV004025875]	likely benign	12	57516488	57516488	Human	2	name
13813275	CV566974	single nucleotide variant	NM_004990.4(MARS1):c.244A>C (p.Asn82His)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV000704249]	uncertain significance	12	57489310	57489310	Human	2	name
14393720	CV609852	single nucleotide variant	NM_004990.4(MARS1):c.228G>T (p.Glu76Asp)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV001069411]\|not provided [RCV000756320]	uncertain significance	12	57489294	57489294	Human	2	name
14396791	CV612958	single nucleotide variant	NM_004990.4(MARS1):c.1908G>A (p.Thr636=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002533885]\|not provided [RCV000761834]	likely benign\|uncertain significance	12	57512905	57512905	Human	2	name
14743224	CV656176	single nucleotide variant	NM_004990.4(MARS1):c.2277C>T (p.Tyr759=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV001504562]\|not provided [RCV000841908]	likely benign	12	57515222	57515222	Human	2	name
15117827	CV693257	single nucleotide variant	NM_004990.4(MARS1):c.1149T>C (p.Thr383=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002235927]	likely benign	12	57500378	57500378	Human	2	name
15188578	CV702452	single nucleotide variant	NM_004990.4(MARS1):c.1008C>T (p.Tyr336=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV001406881]	likely benign	12	57498540	57498540	Human	2	name
15142659	CV713682	single nucleotide variant	NM_004990.4(MARS1):c.1479C>A (p.Arg493=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002235845]\|not provided [RCV000966528]	likely benign	12	57511808	57511808	Human	2	name
15182043	CV738799	single nucleotide variant	NM_004990.4(MARS1):c.2637A>G (p.Leu879=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002235663]	likely benign	12	57516515	57516515	Human	2	name
15201237	CV753523	single nucleotide variant	NM_004990.4(MARS1):c.1576C>T (p.Leu526=)	not provided [RCV000913080]	likely benign	12	57512044	57512044	Human		name
15148433	CV753524	single nucleotide variant	NM_004990.4(MARS1):c.2655A>G (p.Val885=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV001459574]	likely benign	12	57516533	57516533	Human	2	name
15112407	CV769243	single nucleotide variant	NM_004990.4(MARS1):c.1338G>T (p.Ser446=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV001399774]	likely benign	12	57504269	57504269	Human	2	name
15192676	CV769244	single nucleotide variant	NM_004990.4(MARS1):c.1434C>T (p.Ala478=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV001440408]	likely benign	12	57511763	57511763	Human	2	name
15187967	CV769245	single nucleotide variant	NM_004990.4(MARS1):c.1794C>T (p.Arg598=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV001424787]	likely benign	12	57512791	57512791	Human	2	name
15129579	CV769246	single nucleotide variant	NM_004990.4(MARS1):c.2478G>A (p.Pro826=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV001519862]	benign	12	57516259	57516259	Human	2	name
15102719	CV769247	single nucleotide variant	NM_004990.4(MARS1):c.2577G>C (p.Leu859=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV001442672]	likely benign	12	57516455	57516455	Human	2	name
15130864	CV784440	single nucleotide variant	NM_004990.4(MARS1):c.1332G>A (p.Val444=)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV001501073]	likely benign	12	57504263	57504263	Human	2	name
34890185	CV905378	single nucleotide variant	NM_004990.4(MARS1):c.1731G>A (p.Leu577=)	Charcot-Marie-Tooth disease [RCV001173666]	likely benign	12	57512331	57512331	Human	1	name
34890187	CV905381	single nucleotide variant	NM_004990.4(MARS1):c.2112C>T (p.Ala704=)	Charcot-Marie-Tooth disease [RCV001173667]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002240915]	benign\|likely benign	12	57514966	57514966	Human	3	name
38475158	CV926690	single nucleotide variant	NM_004990.4(MARS1):c.163A>G (p.Ser55Gly)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV001215049]	uncertain significance	12	57489072	57489072	Human	2	name
38480506	CV926691	deletion	NM_004990.4(MARS1):c.659del (p.Pro220fs)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV001217570]\|not specified [RCV004034036]	pathogenic\|uncertain significance	12	57490374	57490374	Human	2	name
150528619	CV1288410	single nucleotide variant	NM_004990.4(MARS1):c.581G>A (p.Gly194Asp)	not provided [RCV001726878]	uncertain significance	12	57490297	57490297	Human		name
150528003	CV1301023	single nucleotide variant	NM_004990.4(MARS1):c.319G>A (p.Gly107Ser)	not provided [RCV001754883]\|not specified [RCV004040183]	uncertain significance	12	57489463	57489463	Human		name
150528765	CV1306077	single nucleotide variant	NM_138395.4(MARS2):c.368A>T (p.Gln123Leu)	not provided [RCV001755481]	uncertain significance	2	197705773	197705773	Human		name
150550340	CV1309259	single nucleotide variant	NM_138395.4(MARS2):c.740A>G (p.Asp247Gly)	not provided [RCV001752940]	uncertain significance	2	197706145	197706145	Human		name
151766629	CV1348619	single nucleotide variant	NM_138395.4(MARS2):c.872G>A (p.Gly291Asp)	not provided [RCV001895926]	uncertain significance	2	197706277	197706277	Human		name
151762643	CV1423890	single nucleotide variant	NM_138395.4(MARS2):c.757C>A (p.Leu253Met)	not provided [RCV002008054]	uncertain significance	2	197706162	197706162	Human		name
151778713	CV1463372	single nucleotide variant	NM_138395.4(MARS2):c.826A>C (p.Ile276Leu)	not provided [RCV001875154]\|not specified [RCV004040592]	uncertain significance	2	197706231	197706231	Human		name
151750568	CV1508280	single nucleotide variant	NM_138395.4(MARS2):c.689C>G (p.Pro230Arg)	not provided [RCV001986242]	uncertain significance	2	197706094	197706094	Human		name
152985065	CV1673677	duplication	NM_004990.4(MARS1):c.2114dup (p.Leu705fs)	Charcot-Marie-Tooth disease axonal type 2U [RCV004793746]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002239702]\|not provided [RCV004546712]	likely pathogenic\|uncertain significance	12	57514966	57514967	Human	2	name
153302772	CV1689617	duplication	NM_004990.4(MARS1):c.1392dup (p.Leu465fs)	Charcot-Marie-Tooth disease axonal type 2U [RCV002267561]	uncertain significance	12	57511719	57511720	Human	1	name
153345850	CV1691480	single nucleotide variant	NM_138395.4(MARS2):c.590T>A (p.Leu197His)	Spastic ataxia 3 [RCV002272963]	uncertain significance	2	197705995	197705995	Human	1	name
155724564	CV1773604	single nucleotide variant	NM_138395.4(MARS2):c.986T>C (p.Met329Thr)	not provided [RCV002301405]	uncertain significance	2	197706391	197706391	Human		name
155801987	CV1857068	single nucleotide variant	NM_004990.4(MARS1):c.715G>A (p.Ala239Thr)	not specified [RCV004066518]	uncertain significance	12	57490589	57490589	Human		name
155802004	CV1857087	single nucleotide variant	NM_004990.4(MARS1):c.460C>A (p.Pro154Thr)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003775463]\|not specified [RCV004066526]	uncertain significance	12	57489941	57489941	Human	2	name
155802031	CV1857119	single nucleotide variant	NM_004990.4(MARS1):c.314T>C (p.Val105Ala)	not specified [RCV004066544]	uncertain significance	12	57489458	57489458	Human		name
155802067	CV1857153	deletion	NM_004990.4(MARS1):c.2607del (p.Ala870fs)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003103067]\|not specified [RCV004066565]	uncertain significance	12	57516484	57516484	Human	2	name
155802111	CV1857192	single nucleotide variant	NM_004990.4(MARS1):c.996C>G (p.Ile332Met)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003775466]\|not specified [RCV004067324]	uncertain significance	12	57498528	57498528	Human	2	name
155802239	CV1857322	single nucleotide variant	NM_004990.4(MARS1):c.746C>G (p.Pro249Arg)	not specified [RCV004067373]	uncertain significance	12	57490620	57490620	Human		name
155802253	CV1857335	single nucleotide variant	NM_004990.4(MARS1):c.527T>G (p.Leu176Arg)	not specified [RCV004067376]	uncertain significance	12	57490243	57490243	Human		name
155802299	CV1857384	single nucleotide variant	NM_004990.4(MARS1):c.371T>C (p.Ile124Thr)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003775470]\|not specified [RCV004067396]	uncertain significance	12	57489515	57489515	Human	2	name
155802378	CV1857467	single nucleotide variant	NM_004990.4(MARS1):c.308T>C (p.Leu103Ser)	not provided [RCV004697230]\|not specified [RCV004067432]	uncertain significance	12	57489452	57489452	Human		name
155802527	CV1857527	single nucleotide variant	NM_004990.4(MARS1):c.437T>C (p.Ile146Thr)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003103092]\|not provided [RCV004790214]\|not specified [RCV004067454]	uncertain significance	12	57489918	57489918	Human	2	name
155802542	CV1857543	single nucleotide variant	NM_004990.4(MARS1):c.902G>A (p.Arg301His)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003775473]\|not specified [RCV004067464]	uncertain significance	12	57498434	57498434	Human	2	name
155802693	CV1857688	duplication	NM_004990.4(MARS1):c.2278dup (p.Met760fs)	not specified [RCV004067508]	uncertain significance	12	57515222	57515223	Human		name
155802732	CV1857724	single nucleotide variant	NM_004990.4(MARS1):c.875A>G (p.Asp292Gly)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003775475]\|not specified [RCV004067520]	uncertain significance	12	57498261	57498261	Human	2	name
156011872	CV1880527	single nucleotide variant	NM_004990.4(MARS1):c.971A>G (p.Glu324Gly)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003077137]	uncertain significance	12	57498503	57498503	Human	2	name
156078197	CV1886616	single nucleotide variant	NM_004990.4(MARS1):c.743C>T (p.Pro248Leu)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003079775]	uncertain significance	12	57490617	57490617	Human	2	name
156275906	CV1911859	single nucleotide variant	NM_138395.4(MARS2):c.745G>A (p.Glu249Lys)	not provided [RCV002628263]\|not specified [RCV004070560]	uncertain significance	2	197706150	197706150	Human		name
156371773	CV1923628	single nucleotide variant	NM_004990.4(MARS1):c.703A>G (p.Met235Val)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002633450]	uncertain significance	12	57490577	57490577	Human	2	name
156436750	CV1940367	single nucleotide variant	NM_138395.4(MARS2):c.604C>T (p.Pro202Ser)	not provided [RCV003106274]	uncertain significance	2	197706009	197706009	Human		name
156346683	CV1958237	single nucleotide variant	NM_004990.4(MARS1):c.580G>T (p.Gly194Cys)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002580796]	uncertain significance	12	57490296	57490296	Human	2	name
156414736	CV1982966	single nucleotide variant	NM_004990.4(MARS1):c.337G>T (p.Val113Phe)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002609340]	uncertain significance	12	57489481	57489481	Human	2	name
156341228	CV1984910	single nucleotide variant	NM_138395.4(MARS2):c.407T>G (p.Ile136Ser)	not provided [RCV002631441]	uncertain significance	2	197705812	197705812	Human		name
156385670	CV1990160	single nucleotide variant	NM_004990.4(MARS1):c.995T>C (p.Ile332Thr)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002634596]	uncertain significance	12	57498527	57498527	Human	2	name
156108596	CV2002158	single nucleotide variant	NM_004990.4(MARS1):c.886A>T (p.Arg296Trp)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002639849]	uncertain significance	12	57498272	57498272	Human	2	name
156176985	CV2023120	single nucleotide variant	NM_138395.4(MARS2):c.770G>C (p.Arg257Pro)	not provided [RCV002765494]	uncertain significance	2	197706175	197706175	Human		name
156154064	CV2023215	single nucleotide variant	NM_138395.4(MARS2):c.763G>C (p.Val255Leu)	not provided [RCV002741316]	uncertain significance	2	197706168	197706168	Human		name
155991504	CV2027007	single nucleotide variant	NM_138395.4(MARS2):c.686A>C (p.Asn229Thr)	not provided [RCV002755770]	uncertain significance	2	197706091	197706091	Human		name
156108922	CV2038664	single nucleotide variant	NM_004990.4(MARS1):c.349G>A (p.Val117Met)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002761612]	uncertain significance	12	57489493	57489493	Human	2	name
156133653	CV2047927	duplication	NM_004990.4(MARS1):c.1910dup (p.Asp637fs)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002800704]	uncertain significance	12	57512906	57512907	Human	2	name
156154414	CV2049232	single nucleotide variant	NM_138395.4(MARS2):c.368A>C (p.Gln123Pro)	not provided [RCV002801402]	uncertain significance	2	197705773	197705773	Human		name
156032296	CV2059202	single nucleotide variant	NM_004990.4(MARS1):c.683T>C (p.Leu228Pro)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002796104]\|not specified [RCV003988028]	uncertain significance	12	57490557	57490557	Human	2	name
155996327	CV2064055	single nucleotide variant	NM_004990.4(MARS1):c.636G>C (p.Glu212Asp)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002843198]	uncertain significance	12	57490352	57490352	Human	2	name
156356184	CV2073129	single nucleotide variant	NM_138395.4(MARS2):c.584T>C (p.Val195Ala)	not provided [RCV002812145]	uncertain significance	2	197705989	197705989	Human		name
155973207	CV2088507	single nucleotide variant	NM_138395.4(MARS2):c.946C>T (p.His316Tyr)	not provided [RCV002863417]	uncertain significance	2	197706351	197706351	Human		name
156145202	CV2090851	single nucleotide variant	NM_138395.4(MARS2):c.539C>T (p.Ala180Val)	not provided [RCV002890458]	uncertain significance	2	197705944	197705944	Human		name
156194967	CV2099162	single nucleotide variant	NM_004990.4(MARS1):c.433G>A (p.Asp145Asn)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002917579]\|not provided [RCV003130774]	uncertain significance	12	57489914	57489914	Human	2	name
156149359	CV2100227	single nucleotide variant	NM_004990.4(MARS1):c.509A>G (p.His170Arg)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002872267]	uncertain significance	12	57490225	57490225	Human	2	name
156339385	CV2106772	single nucleotide variant	NM_138395.4(MARS2):c.475C>G (p.Leu159Val)	not provided [RCV002938812]\|not specified [RCV004067234]	uncertain significance	2	197705880	197705880	Human		name
156032949	CV2116308	single nucleotide variant	NM_004990.4(MARS1):c.596G>A (p.Arg199Gln)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002910149]	uncertain significance	12	57490312	57490312	Human	2	name
155939756	CV2119734	single nucleotide variant	NM_138395.4(MARS2):c.457G>A (p.Val153Met)	not provided [RCV002971199]	likely benign	2	197705862	197705862	Human		name
156364144	CV2130466	single nucleotide variant	NM_004990.4(MARS1):c.907T>C (p.Trp303Arg)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002967174]	uncertain significance	12	57498439	57498439	Human	2	name
156310691	CV2133237	single nucleotide variant	NM_004990.4(MARS1):c.397T>G (p.Cys133Gly)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003011092]	uncertain significance	12	57489541	57489541	Human	2	name
155911210	CV2141649	single nucleotide variant	NM_138395.4(MARS2):c.854A>G (p.Asn285Ser)	not provided [RCV002968064]\|not specified [RCV004065100]	uncertain significance	2	197706259	197706259	Human		name
155960767	CV2144226	single nucleotide variant	NM_004990.4(MARS1):c.389G>C (p.Arg130Pro)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003015453]	uncertain significance	12	57489533	57489533	Human	2	name
156138586	CV2165973	single nucleotide variant	NM_004990.4(MARS1):c.425C>G (p.Ser142Cys)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003022439]	uncertain significance	12	57489906	57489906	Human	2	name
156151688	CV2197979	single nucleotide variant	NM_138395.4(MARS2):c.523T>A (p.Cys175Ser)	not provided [RCV003777597]\|not specified [RCV004077189]	uncertain significance	2	197705928	197705928	Human		name
156018601	CV2272322	single nucleotide variant	NM_138395.4(MARS2):c.422C>T (p.Ala141Val)	not provided [RCV003777808]\|not specified [RCV004131468]	uncertain significance	2	197705827	197705827	Human		name
156061956	CV2323211	single nucleotide variant	NM_004990.4(MARS1):c.657G>T (p.Glu219Asp)	not specified [RCV004187606]	uncertain significance	12	57490373	57490373	Human		name
243054271	CV2413276	single nucleotide variant	NM_138395.4(MARS2):c.375C>G (p.Phe125Leu)	not provided [RCV003131552]	uncertain significance	2	197705780	197705780	Human		name
243049969	CV2417282	single nucleotide variant	NM_138395.4(MARS2):c.746A>T (p.Glu249Val)	not provided [RCV003152154]	uncertain significance	2	197706151	197706151	Human		name
329366537	CV2445808	single nucleotide variant	NM_004990.4(MARS1):c.577C>G (p.Gln193Glu)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003779665]\|not specified [RCV004259863]	uncertain significance	12	57490293	57490293	Human	2	name
329848263	CV2667882	single nucleotide variant	NM_004990.4(MARS1):c.985C>G (p.Pro329Ala)	not provided [RCV003229449]	uncertain significance	12	57498517	57498517	Human		name
401755086	CV2732594	single nucleotide variant	NM_138395.4(MARS2):c.754G>A (p.Asp252Asn)	not specified [RCV004332586]	uncertain significance	2	197706159	197706159	Human		name
402512169	CV2859042	single nucleotide variant	NM_138395.4(MARS2):c.854A>T (p.Asn285Ile)	not provided [RCV003547114]	uncertain significance	2	197706259	197706259	Human		name
402519806	CV2870876	single nucleotide variant	NM_138395.4(MARS2):c.809G>A (p.Gly270Glu)	not provided [RCV003547576]	uncertain significance	2	197706214	197706214	Human		name
405237306	CV2881128	single nucleotide variant	NM_138395.4(MARS2):c.763G>A (p.Val255Met)	not provided [RCV003556651]	uncertain significance	2	197706168	197706168	Human		name
405052094	CV2883608	single nucleotide variant	NM_138395.4(MARS2):c.815A>G (p.Asp272Gly)	not provided [RCV003579862]	uncertain significance	2	197706220	197706220	Human		name
405247338	CV2966763	single nucleotide variant	NM_138395.4(MARS2):c.947A>T (p.His316Leu)	not provided [RCV003685653]	uncertain significance	2	197706352	197706352	Human		name
405216372	CV2972068	single nucleotide variant	NM_138395.4(MARS2):c.752C>T (p.Pro251Leu)	not provided [RCV003680077]	uncertain significance	2	197706157	197706157	Human		name
405210730	CV3059032	single nucleotide variant	NM_138395.4(MARS2):c.452G>C (p.Trp151Ser)	not provided [RCV003731968]	uncertain significance	2	197705857	197705857	Human		name
405242081	CV3078599	single nucleotide variant	NM_138395.4(MARS2):c.329C>T (p.Pro110Leu)	not provided [RCV003737496]	uncertain significance	2	197705734	197705734	Human		name
405050687	CV3081580	single nucleotide variant	NM_004990.4(MARS1):c.664G>A (p.Glu222Lys)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005216138]\|not provided [RCV003740566]	uncertain significance	12	57490538	57490538	Human	2	name
405023976	CV3081991	single nucleotide variant	NM_004990.4(MARS1):c.478G>T (p.Ala160Ser)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003785597]	uncertain significance	12	57489959	57489959	Human	2	name
405026971	CV3082369	single nucleotide variant	NM_004990.4(MARS1):c.789A>C (p.Glu263Asp)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003785820]	uncertain significance	12	57498175	57498175	Human	2	name
405029110	CV3082438	single nucleotide variant	NM_004990.4(MARS1):c.427C>G (p.Leu143Val)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003785889]	uncertain significance	12	57489908	57489908	Human	2	name
404985589	CV3083526	single nucleotide variant	NM_004990.4(MARS1):c.709G>A (p.Val237Ile)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003781876]	uncertain significance	12	57490583	57490583	Human	2	name
405023837	CV3085000	single nucleotide variant	NM_004990.4(MARS1):c.311T>A (p.Val104Glu)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003795866]	uncertain significance	12	57489455	57489455	Human	2	name
405024332	CV3085043	single nucleotide variant	NM_004990.4(MARS1):c.896G>A (p.Arg299His)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003795909]	uncertain significance	12	57498428	57498428	Human	2	name
402512435	CV3089359	single nucleotide variant	NM_004990.4(MARS1):c.764A>G (p.Asn255Ser)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003780391]	uncertain significance	12	57490638	57490638	Human	2	name
402516770	CV3089876	single nucleotide variant	NM_004990.4(MARS1):c.533C>T (p.Thr178Ile)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003780753]	uncertain significance	12	57490249	57490249	Human	2	name
402505264	CV3090253	single nucleotide variant	NM_004990.4(MARS1):c.542C>T (p.Pro181Leu)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003789021]	uncertain significance	12	57490258	57490258	Human	2	name
402489293	CV3090889	deletion	NM_004990.4(MARS1):c.2504del (p.Thr835fs)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003787391]	uncertain significance	12	57516285	57516285	Human	2	name
402519240	CV3091842	single nucleotide variant	NM_004990.4(MARS1):c.874G>C (p.Asp292His)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003790288]	uncertain significance	12	57498260	57498260	Human	2	name
405034312	CV3093052	single nucleotide variant	NM_004990.4(MARS1):c.895C>T (p.Arg299Cys)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003786403]\|not specified [RCV005377561]	uncertain significance	12	57498427	57498427	Human	2	name
402482781	CV3093361	single nucleotide variant	NM_004990.4(MARS1):c.590C>T (p.Ala197Val)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003786715]	uncertain significance	12	57490306	57490306	Human	2	name
405066327	CV3103394	deletion	NM_004990.4(MARS1):c.1534del (p.Asp512fs)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003799224]	uncertain significance	12	57511863	57511863	Human	2	name
405066457	CV3103403	single nucleotide variant	NM_004990.4(MARS1):c.965C>T (p.Ala322Val)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003799233]	uncertain significance	12	57498497	57498497	Human	2	name
405093410	CV3105455	duplication	NM_004990.4(MARS1):c.2685dup (p.Gly896fs)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003801171]	uncertain significance	12	57516560	57516561	Human	2	name
405106478	CV3113631	single nucleotide variant	NM_004990.4(MARS1):c.520C>T (p.Gln174Ter)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV003812753]	uncertain significance	12	57490236	57490236	Human	2	name
405177773	CV3123475	single nucleotide variant	NM_138395.4(MARS2):c.548C>T (p.Thr183Ile)	not provided [RCV003819684]	uncertain significance	2	197705953	197705953	Human		name
405081864	CV3137208	single nucleotide variant	NM_138395.4(MARS2):c.499G>A (p.Gly167Ser)	not provided [RCV003834107]	uncertain significance	2	197705904	197705904	Human		name
8600471	CV32172	single nucleotide variant	NM_001854.4(COL11A1):c.2927G>T (p.Gly976Val)	Marshall/Stickler syndrome [RCV000018671]	pathogenic	1	102962750	102962750	Human	1	trait
405658513	CV3281676	single nucleotide variant	NM_004990.4(MARS1):c.359C>T (p.Ala120Val)	not specified [RCV004416497]	uncertain significance	12	57489503	57489503	Human		name
405658528	CV3281682	single nucleotide variant	NM_138395.4(MARS2):c.727C>T (p.Leu243Phe)	not specified [RCV004416503]	uncertain significance	2	197706132	197706132	Human		name
407494873	CV3456904	single nucleotide variant	NM_004990.4(MARS1):c.752G>A (p.Arg251Gln)	not specified [RCV004643089]	uncertain significance	12	57490626	57490626	Human		name
407494889	CV3456909	single nucleotide variant	NM_138395.4(MARS2):c.452G>T (p.Trp151Leu)	not specified [RCV004643093]	uncertain significance	2	197705857	197705857	Human		name
408374712	CV3502484	single nucleotide variant	NM_138395.4(MARS2):c.929A>T (p.Lys310Met)	not provided [RCV004726071]	uncertain significance	2	197706334	197706334	Human		name
408394588	CV3521506	single nucleotide variant	NM_004990.4(MARS1):c.447G>C (p.Trp149Cys)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV004764303]	uncertain significance	12	57489928	57489928	Human	1	name
596924270	CV3532167	single nucleotide variant	NM_138395.4(MARS2):c.389T>C (p.Ile130Thr)	not provided [RCV004777278]	uncertain significance	2	197705794	197705794	Human		name
596927113	CV3532493	single nucleotide variant	NM_138395.4(MARS2):c.778A>G (p.Ser260Gly)	not provided [RCV004778591]	uncertain significance	2	197706183	197706183	Human		name
596924500	CV3536630	single nucleotide variant	NM_004990.4(MARS1):c.916C>T (p.Leu306Phe)	Charcot-Marie-Tooth disease axonal type 2U [RCV004790040]	uncertain significance	12	57498448	57498448	Human	1	name
596929935	CV3538586	single nucleotide variant	NM_138395.4(MARS2):c.671G>A (p.Arg224Gln)	not provided [RCV004792054]	uncertain significance	2	197706076	197706076	Human		name
596932659	CV3539285	single nucleotide variant	NM_004990.4(MARS1):c.416A>G (p.Glu139Gly)	not provided [RCV004793907]	uncertain significance	12	57489897	57489897	Human		name
596932660	CV3539286	single nucleotide variant	NM_004990.4(MARS1):c.913A>G (p.Thr305Ala)	not provided [RCV004793908]	uncertain significance	12	57498445	57498445	Human		name
596947277	CV3548827	single nucleotide variant	NM_004990.4(MARS1):c.580G>A (p.Gly194Ser)	not provided [RCV004811151]	uncertain significance	12	57490296	57490296	Human		name
596946155	CV3550439	single nucleotide variant	NM_138395.4(MARS2):c.504G>A (p.Trp168Ter)	Spastic ataxia 3 [RCV004818980]	uncertain significance	2	197705909	197705909	Human	1	name
597636692	CV3697636	single nucleotide variant	NM_004990.4(MARS1):c.979C>G (p.Leu327Val)	not specified [RCV004940832]	uncertain significance	12	57498511	57498511	Human		name
597636703	CV3697638	single nucleotide variant	NM_004990.4(MARS1):c.911A>C (p.Asn304Thr)	not specified [RCV004940834]	uncertain significance	12	57498443	57498443	Human		name
597636720	CV3697641	single nucleotide variant	NM_138395.4(MARS2):c.844G>T (p.Ala282Ser)	not specified [RCV004940837]	uncertain significance	2	197706249	197706249	Human		name
597636735	CV3697644	single nucleotide variant	NM_138395.4(MARS2):c.382G>T (p.Ala128Ser)	not specified [RCV004940840]	uncertain significance	2	197705787	197705787	Human		name
597636741	CV3697645	single nucleotide variant	NM_138395.4(MARS2):c.425G>A (p.Arg142Gln)	not specified [RCV004940841]	uncertain significance	2	197705830	197705830	Human		name
597834042	CV3735163	single nucleotide variant	NM_004990.4(MARS1):c.822C>G (p.Tyr274Ter)	not provided [RCV005054896]	uncertain significance	12	57498208	57498208	Human		name
597877616	CV3744277	single nucleotide variant	NM_138395.4(MARS2):c.883G>A (p.Ala295Thr)	not provided [RCV005069491]	uncertain significance	2	197706288	197706288	Human		name
597946418	CV3807505	single nucleotide variant	NM_138395.4(MARS2):c.902G>A (p.Trp301Ter)	not provided [RCV005160140]	uncertain significance	2	197706307	197706307	Human		name
597974728	CV3831809	single nucleotide variant	NM_138395.4(MARS2):c.845C>T (p.Ala282Val)	not provided [RCV005168748]	uncertain significance	2	197706250	197706250	Human		name
597927393	CV3836941	single nucleotide variant	NM_138395.4(MARS2):c.467C>T (p.Ser156Phe)	not provided [RCV005185292]\|not specified [RCV005379815]	uncertain significance	2	197705872	197705872	Human		name
597961366	CV3844101	single nucleotide variant	NM_138395.4(MARS2):c.797T>C (p.Ile266Thr)	not provided [RCV005192948]	uncertain significance	2	197706202	197706202	Human		name
597945963	CV3844991	single nucleotide variant	NM_138395.4(MARS2):c.407T>A (p.Ile136Asn)	not provided [RCV005188977]	uncertain significance	2	197705812	197705812	Human		name
597833175	CV3864071	single nucleotide variant	NM_004990.4(MARS1):c.842T>G (p.Leu281Arg)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005209707]	uncertain significance	12	57498228	57498228	Human	2	name
597835210	CV3864433	single nucleotide variant	NM_004990.4(MARS1):c.766C>T (p.Pro256Ser)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005210069]	uncertain significance	12	57490640	57490640	Human	2	name
597858229	CV3864767	deletion	NM_004990.4(MARS1):c.2378del (p.His793fs)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005213823]	uncertain significance	12	57515323	57515323	Human	2	name
597920006	CV3865409	single nucleotide variant	NM_004990.4(MARS1):c.356G>A (p.Arg119Lys)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005223353]	uncertain significance	12	57489500	57489500	Human	2	name
597836769	CV3866675	single nucleotide variant	NM_004990.4(MARS1):c.352C>G (p.Arg118Gly)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005225666]	uncertain significance	12	57489496	57489496	Human	2	name
597906010	CV3870147	single nucleotide variant	NM_004990.4(MARS1):c.874G>A (p.Asp292Asn)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005221198]	uncertain significance	12	57498260	57498260	Human	2	name
597876596	CV3871469	single nucleotide variant	NM_004990.4(MARS1):c.673C>A (p.Leu225Met)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005216685]	uncertain significance	12	57490547	57490547	Human	2	name
597880071	CV3872133	single nucleotide variant	NM_004990.4(MARS1):c.893C>G (p.Ser298Cys)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005217185]	uncertain significance	12	57498425	57498425	Human	2	name
597840173	CV3873470	single nucleotide variant	NM_004990.4(MARS1):c.604C>G (p.Leu202Val)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005226297]	uncertain significance	12	57490320	57490320	Human	2	name
597836405	CV3874440	single nucleotide variant	NM_004990.4(MARS1):c.496C>G (p.Leu166Val)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005210361]	uncertain significance	12	57490212	57490212	Human	2	name
597838931	CV3876805	single nucleotide variant	NM_004990.4(MARS1):c.646G>A (p.Val216Ile)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005226073]	uncertain significance	12	57490362	57490362	Human	2	name
597915147	CV3878941	deletion	NM_004990.4(MARS1):c.1149del (p.Val384fs)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005222477]	uncertain significance	12	57500378	57500378	Human	2	name
597912529	CV3879696	single nucleotide variant	NM_004990.4(MARS1):c.941A>G (p.Tyr314Cys)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV005222097]	uncertain significance	12	57498473	57498473	Human	2	name
597845550	CV3880455	single nucleotide variant	NM_138395.4(MARS2):c.863C>G (p.Thr288Ser)	not provided [RCV005227343]	uncertain significance	2	197706268	197706268	Human		name
598226497	CV3895808	single nucleotide variant	NM_138395.4(MARS2):c.837G>A (p.Trp279Ter)	Spastic ataxia 3 [RCV005362101]	likely pathogenic	2	197706242	197706242	Human	1	name
598199010	CV3985527	single nucleotide variant	NM_138395.4(MARS2):c.685A>G (p.Asn229Asp)	not specified [RCV005375633]	likely benign	2	197706090	197706090	Human		name
598199030	CV3985530	single nucleotide variant	NM_138395.4(MARS2):c.431G>T (p.Arg144Leu)	not specified [RCV005375636]	uncertain significance	2	197705836	197705836	Human		name
598199038	CV3985532	single nucleotide variant	NM_138395.4(MARS2):c.680G>A (p.Arg227Gln)	not specified [RCV005375637]	uncertain significance	2	197706085	197706085	Human		name
598199044	CV3985533	single nucleotide variant	NM_138395.4(MARS2):c.328C>A (p.Pro110Thr)	not specified [RCV005375638]	uncertain significance	2	197705733	197705733	Human		name
616934093	CV4012076	single nucleotide variant	NM_004990.4(MARS1):c.793A>C (p.Asn265His)	not specified [RCV005409110]	uncertain significance	12	57498179	57498179	Human		name
14704397	CV626122	single nucleotide variant	NM_138395.4(MARS2):c.341G>T (p.Cys114Phe)	Spastic ataxia 3 [RCV000791134]	uncertain significance	2	197705746	197705746	Human	1	name
14704270	CV626123	single nucleotide variant	NM_138395.4(MARS2):c.799C>T (p.Pro267Ser)	Spastic ataxia 3 [RCV000790986]	uncertain significance	2	197706204	197706204	Human	1	name
14701903	CV641303	single nucleotide variant	NM_004990.4(MARS1):c.353G>A (p.Arg118Gln)	Charcot-Marie-Tooth disease [RCV001173424]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV000820400]	uncertain significance	12	57489497	57489497	Human	3	name
26898844	CV840140	single nucleotide variant	NM_004990.4(MARS1):c.652A>G (p.Asn218Asp)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV001039784]	uncertain significance	12	57490368	57490368	Human	2	name
26899584	CV840141	single nucleotide variant	NM_004990.4(MARS1):c.692A>T (p.Glu231Val)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV001045419]	uncertain significance	12	57490566	57490566	Human	2	name
26902611	CV840142	single nucleotide variant	NM_004990.4(MARS1):c.986C>A (p.Pro329His)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV001065595]\|not specified [RCV004030587]	likely benign\|uncertain significance	12	57498518	57498518	Human	2	name
34890026	CV905365	single nucleotide variant	NM_004990.4(MARS1):c.331G>C (p.Glu111Gln)	Charcot-Marie-Tooth disease [RCV001173443]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV001232113]\|not specified [RCV004032959]	uncertain significance	12	57489475	57489475	Human	3	name
34890024	CV905366	single nucleotide variant	NM_004990.4(MARS1):c.352C>T (p.Arg118Trp)	Charcot-Marie-Tooth disease [RCV001173441]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002240746]\|not specified [RCV004032957]	uncertain significance	12	57489496	57489496	Human	3	name
34890021	CV905368	single nucleotide variant	NM_004990.4(MARS1):c.988C>A (p.Gln330Lys)	Charcot-Marie-Tooth disease [RCV001173438]\|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV002558753]\|not specified [RCV004032956]	likely benign\|uncertain significance	12	57498520	57498520	Human	3	name
38463797	CV919460	single nucleotide variant	NM_004990.4(MARS1):c.985C>A (p.Pro329Thr)	See cases [RCV001199283]	uncertain significance	12	57498517	57498517	Human		name

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