Tars Variant Search Result - Rat Genome Database

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708 records found for search term Tars

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
12834091	CV364437	single nucleotide variant	NM_025150.5(TARS2):c.-22G>A	not provided [RCV000767312]	likely benign\|not provided	1	150487429	150487429	Human		name
13538710	CV498034	single nucleotide variant	NM_025150.4(TARS2):c.-41C>T	not specified [RCV000612228]	likely benign	1	150487410	150487410	Human		name
150515916	CV1227710	duplication	NM_025150.5(TARS2):c.*216dup	not provided [RCV001638985]	benign	1	150507271	150507272	Human		name
150485579	CV1250256	single nucleotide variant	NM_025150.5(TARS2):c.*302A>G	not provided [RCV001673869]	benign	1	150507366	150507366	Human		name
14730842	CV657019	single nucleotide variant	NM_025150.4(TARS2):c.-212T>C	not provided [RCV000835859]	benign	1	150487239	150487239	Human		name
126909164	CV1053055	single nucleotide variant	NM_025150.5(TARS2):c.388-1G>C	Combined oxidative phosphorylation defect type 21 [RCV003315449]\|Neurodevelopmental disorder [RCV001375013]	likely pathogenic\|uncertain significance	1	150490600	150490600	Human	2	name
151865509	CV1357763	single nucleotide variant	NM_025150.5(TARS2):c.630+3G>C	not provided [RCV001905833]	uncertain significance	1	150491514	150491514	Human		name
151724674	CV1437126	single nucleotide variant	NM_025150.5(TARS2):c.513-3C>A	not provided [RCV002004119]	uncertain significance	1	150491391	150491391	Human		name
8698642	CV152760	single nucleotide variant	NM_025150.5(TARS2):c.695+3A>G	Combined oxidative phosphorylation defect type 21 [RCV000132558]	pathogenic\|likely pathogenic	1	150491665	150491665	Human	1	name
156139305	CV1973526	single nucleotide variant	NM_025150.5(TARS2):c.513-4C>G	not provided [RCV002593774]	likely benign	1	150491390	150491390	Human		name
156321521	CV2014543	single nucleotide variant	NM_025150.5(TARS2):c.696-5C>A	not provided [RCV002672225]	likely benign	1	150492406	150492406	Human		name
243056318	CV2049070	single nucleotide variant	NM_025150.5(TARS2):c.774+5G>T	Combined oxidative phosphorylation defect type 21 [RCV003138359]	uncertain significance	1	150492494	150492494	Human	1	name
156233304	CV2075115	deletion	NM_025150.5(TARS2):c.513-5del	not provided [RCV002830133]	uncertain significance	1	150491387	150491387	Human		name
156388773	CV2122243	single nucleotide variant	NM_025150.5(TARS2):c.696-5C>T	TARS2-related disorder [RCV003898636]\|not provided [RCV002943697]	likely benign	1	150492406	150492406	Human	1	name , trait , alternate_id
405042998	CV2859613	single nucleotide variant	NM_025150.5(TARS2):c.922-6C>T	not provided [RCV003579255]	likely benign	1	150496804	150496804	Human		name
405288360	CV3197332	deletion	NM_152295.5(TARS1):c.330-4del	TARS1-related disorder [RCV003982428]	likely benign	5	33453264	33453264	Human		name , trait , alternate_id
405276218	CV3199645	duplication	NM_152295.5(TARS1):c.330-4dup	TARS1-related disorder [RCV003917032]	likely benign	5	33453263	33453264	Human		name , trait , alternate_id
405289819	CV3213943	single nucleotide variant	NM_025150.5(TARS2):c.264-9C>T	TARS2-related disorder [RCV003926796]	likely benign	1	150488955	150488955	Human		name , trait , alternate_id
405272943	CV3220621	single nucleotide variant	NM_152295.5(TARS1):c.693+6T>C	TARS1-related disorder [RCV003972303]	benign	5	33455710	33455710	Human		name , trait , alternate_id
12840364	CV364412	single nucleotide variant	NM_025150.5(TARS2):c.263+8G>T	not provided [RCV000899638]\|not specified [RCV000430569]	benign\|likely benign	1	150488062	150488062	Human		name
598204426	CV3896655	single nucleotide variant	NM_152295.5(TARS1):c.330-1G>T	Trichothiodystrophy [RCV005356860]	uncertain significance	5	33453288	33453288	Human	1	name
12905675	CV413247	single nucleotide variant	NM_025150.5(TARS2):c.387+6T>C	Combined oxidative phosphorylation defect type 21 [RCV003315432]\|not provided [RCV000487829]	pathogenic\|likely pathogenic\|uncertain significance	1	150489093	150489093	Human	1	name
15137265	CV774371	single nucleotide variant	NM_025150.5(TARS2):c.774+8G>T	not provided [RCV000943211]	likely benign	1	150492497	150492497	Human		name
150503813	CV1212558	single nucleotide variant	NM_025150.5(TARS2):c.922-30G>T	not provided [RCV001595433]	benign	1	150496780	150496780	Human		name
151353068	CV1325898	single nucleotide variant	NM_152295.5(TARS1):c.984+27T>A	Trichothiodystrophy 7, nonphotosensitive [RCV001816032]\|not provided [RCV004716844]	benign	5	33457430	33457430	Human	1	name
151352713	CV1325899	single nucleotide variant	NM_152295.5(TARS1):c.985-35G>A	Trichothiodystrophy 7, nonphotosensitive [RCV001815647]\|not provided [RCV004716845]	benign	5	33458531	33458531	Human	1	name
152045775	CV1614295	single nucleotide variant	NM_025150.5(TARS2):c.696-14C>T	not provided [RCV002166255]	likely benign	1	150492397	150492397	Human		name
152032089	CV1624695	single nucleotide variant	NM_025150.5(TARS2):c.2009-8A>G	not provided [RCV002186828]	likely benign	1	150506908	150506908	Human		name
152982231	CV1677182	single nucleotide variant	NM_025150.5(TARS2):c.1401+5C>T	not specified [RCV002248887]	uncertain significance	1	150498669	150498669	Human		name
156252758	CV1883955	single nucleotide variant	NM_025150.5(TARS2):c.1238+2T>G	not provided [RCV003086163]	uncertain significance	1	150497749	150497749	Human		name
156227990	CV1955872	single nucleotide variant	NM_025150.5(TARS2):c.775-14A>G	not provided [RCV002575770]	likely benign	1	150496468	150496468	Human		name
155984609	CV1979529	single nucleotide variant	NM_025150.5(TARS2):c.1239-7A>G	not provided [RCV002617753]	uncertain significance	1	150498495	150498495	Human		name
156255959	CV2041262	deletion	NM_025150.5(TARS2):c.696-18del	not provided [RCV002806169]	likely benign	1	150492392	150492392	Human		name
401932759	CV2809239	single nucleotide variant	NM_025150.5(TARS2):c.1821-5A>G	not provided [RCV003408855]	likely benign	1	150504901	150504901	Human		name
405198061	CV3146819	single nucleotide variant	NM_025150.5(TARS2):c.775-16C>T	not provided [RCV003844174]	likely benign	1	150496466	150496466	Human		name
405186955	CV3149115	single nucleotide variant	NM_025150.5(TARS2):c.630+19G>A	not provided [RCV003843041]	likely benign	1	150491530	150491530	Human		name
405260877	CV3204414	single nucleotide variant	NM_025150.5(TARS2):c.1617+5G>A	TARS2-related disorder [RCV003944237]	likely benign	1	150499298	150499298	Human		name , trait , alternate_id
405278938	CV3220492	duplication	NM_152295.5(TARS1):c.1731-9dup	TARS1-related disorder [RCV003976682]	benign	5	33462080	33462081	Human		name , trait , alternate_id
597858981	CV3822427	single nucleotide variant	NM_025150.5(TARS2):c.1021-6C>T	not provided [RCV005174725]	likely benign	1	150497524	150497524	Human		name
13789909	CV549855	single nucleotide variant	NM_025150.5(TARS2):c.1618-5T>C	not provided [RCV000676947]	likely benign	1	150504330	150504330	Human		name
14741038	CV657024	single nucleotide variant	NM_025150.5(TARS2):c.67-166A>G	not provided [RCV000840603]	benign	1	150487692	150487692	Human		name
14730845	CV657074	single nucleotide variant	NM_025150.5(TARS2):c.513-98C>G	not provided [RCV000835860]\|not specified [RCV004597889]	benign	1	150491296	150491296	Human		name
15189073	CV777025	single nucleotide variant	NM_025150.5(TARS2):c.388-10G>T	not provided [RCV000954069]	likely benign	1	150490591	150490591	Human		name
150339837	CV1167866	deletion	NM_025150.5(TARS2):c.387+199del	not provided [RCV001534653]	benign	1	150489286	150489286	Human		name
150503351	CV1212464	deletion	NM_025150.5(TARS2):c.695+142del	not provided [RCV001595339]	benign	1	150491793	150491793	Human		name
150434770	CV1215973	single nucleotide variant	NM_025150.5(TARS2):c.388-174T>A	not provided [RCV001609162]	benign	1	150490427	150490427	Human		name
150453398	CV1219827	single nucleotide variant	NM_025150.5(TARS2):c.512+325T>C	not provided [RCV001612208]	benign	1	150491050	150491050	Human		name
150500084	CV1224718	duplication	NM_025150.5(TARS2):c.1719-15dup	not provided [RCV001620550]	benign	1	150504609	150504610	Human		name
150435470	CV1233862	single nucleotide variant	NM_025150.5(TARS2):c.1820+41G>A	not provided [RCV001643989]	benign	1	150504774	150504774	Human		name
150465938	CV1277321	deletion	NM_025150.5(TARS2):c.513-330del	not provided [RCV001710616]	benign	1	150491055	150491055	Human		name
150472728	CV1281271	single nucleotide variant	NM_025150.5(TARS2):c.1618-25G>A	not provided [RCV001713415]	benign	1	150504310	150504310	Human		name
150443206	CV1287851	duplication	NM_025150.5(TARS2):c.1617+90dup	not provided [RCV001725572]\|not specified [RCV004598145]	benign	1	150499372	150499373	Human		name
150542719	CV1306584	single nucleotide variant	NM_025150.5(TARS2):c.388-286C>G	not provided [RCV001769648]	likely benign	1	150490315	150490315	Human		name
152051861	CV1523515	deletion	NM_025150.5(TARS2):c.1719-10del	not provided [RCV002127343]	benign	1	150504618	150504618	Human		name
152158496	CV1564425	single nucleotide variant	NM_025150.5(TARS2):c.1719-16C>G	not provided [RCV002140518]	likely benign	1	150504616	150504616	Human		name
152117468	CV1566645	single nucleotide variant	NM_025150.5(TARS2):c.1718+15C>T	not provided [RCV002153834]	likely benign	1	150504450	150504450	Human		name
152167295	CV1600564	single nucleotide variant	NM_025150.5(TARS2):c.1719-17C>G	not provided [RCV002160833]	likely benign	1	150504615	150504615	Human		name
156410168	CV1962136	single nucleotide variant	NM_025150.5(TARS2):c.1402-11C>T	not provided [RCV002587067]	likely benign	1	150498886	150498886	Human		name
156308296	CV1976719	single nucleotide variant	NM_025150.5(TARS2):c.2008+10A>G	not provided [RCV002578553]	likely benign	1	150505715	150505715	Human		name
156180701	CV2001353	single nucleotide variant	NM_025150.5(TARS2):c.2009-13C>T	not provided [RCV002643014]	uncertain significance	1	150506903	150506903	Human		name
156227814	CV2019505	single nucleotide variant	NM_025150.5(TARS2):c.1719-17C>T	not provided [RCV002701246]	likely benign	1	150504615	150504615	Human		name
155953182	CV2073287	single nucleotide variant	NM_025150.5(TARS2):c.1020+18T>C	not provided [RCV002816381]	likely benign	1	150496926	150496926	Human		name
405245484	CV2969223	single nucleotide variant	NM_025150.5(TARS2):c.1020+20G>C	not provided [RCV003685177]	likely benign	1	150496928	150496928	Human		name
405233486	CV2981791	single nucleotide variant	NM_025150.5(TARS2):c.1820+16T>A	not provided [RCV003711904]	likely benign	1	150504749	150504749	Human		name
405212786	CV2984044	single nucleotide variant	NM_025150.5(TARS2):c.1618-17C>T	not provided [RCV003708860]	likely benign	1	150504318	150504318	Human		name
405119707	CV3116187	single nucleotide variant	NM_025150.5(TARS2):c.1820+10C>T	not provided [RCV003814677]	likely benign	1	150504743	150504743	Human		name
405129364	CV3133272	single nucleotide variant	NM_025150.5(TARS2):c.1401+14G>A	not provided [RCV003838242]	likely benign	1	150498678	150498678	Human		name
405157729	CV3152609	single nucleotide variant	NM_025150.5(TARS2):c.1719-15C>A	not provided [RCV003840536]	likely benign	1	150504617	150504617	Human		name
405277044	CV3192663	single nucleotide variant	NM_152295.5(TARS1):c.330-954C>T	TARS1-related disorder [RCV003917318]	benign	5	33452335	33452335	Human		name , trait , alternate_id
12843205	CV364380	single nucleotide variant	NM_025150.5(TARS2):c.1020+15G>A	not specified [RCV000435810]	likely benign	1	150496923	150496923	Human		name
12839446	CV364382	single nucleotide variant	NM_025150.5(TARS2):c.1021-13C>A	not specified [RCV000428821]	likely benign	1	150497517	150497517	Human		name
12847221	CV364386	single nucleotide variant	NM_025150.5(TARS2):c.1719-20C>G	not provided [RCV002521722]\|not specified [RCV000443099]	benign\|likely benign	1	150504612	150504612	Human		name
12845356	CV364442	single nucleotide variant	NM_025150.5(TARS2):c.1401+17T>A	not provided [RCV002064966]\|not specified [RCV000439663]	benign	1	150498681	150498681	Human		name
12839311	CV364445	single nucleotide variant	NM_025150.5(TARS2):c.1540-13C>T	not provided [RCV002065059]\|not specified [RCV000428582]	likely benign	1	150499203	150499203	Human		name
12838835	CV364450	single nucleotide variant	NM_025150.5(TARS2):c.1719-17C>A	Combined oxidative phosphorylation defect type 21 [RCV002480298]\|not provided [RCV002062423]\|not specified [RCV000427699]	benign\|likely benign	1	150504615	150504615	Human	1	name
12844355	CV364453	single nucleotide variant	NM_025150.5(TARS2):c.1719-16C>T	not provided [RCV002062636]\|not specified [RCV000437844]	benign\|likely benign	1	150504616	150504616	Human		name
12848088	CV364467	single nucleotide variant	NM_025150.5(TARS2):c.1401+16C>T	not provided [RCV001512321]\|not specified [RCV000444657]	benign	1	150498680	150498680	Human	1	name
12848088	CV364467	single nucleotide variant	NM_025150.5(TARS2):c.1401+16C>T	not provided [RCV001512321]\|not specified [RCV000444657]	benign	1	150498680	150498681	Human	1	name
597832231	CV3751309	single nucleotide variant	NM_025150.5(TARS2):c.1719-18C>G	not provided [RCV005084855]	likely benign	1	150504614	150504614	Human		name
597855961	CV3758733	single nucleotide variant	NM_025150.5(TARS2):c.1893+16A>G	not provided [RCV005088693]	likely benign	1	150504994	150504994	Human		name
597832774	CV3831348	single nucleotide variant	NM_025150.5(TARS2):c.2009-18A>C	not provided [RCV005170551]	likely benign	1	150506898	150506898	Human		name
13535816	CV498021	single nucleotide variant	NM_025150.5(TARS2):c.1239-14C>T	not provided [RCV002066861]\|not specified [RCV000608096]	benign\|likely benign	1	150498488	150498488	Human		name
13536435	CV498057	deletion	NM_025150.4(TARS2):c.-31_-28del	not provided [RCV000676941]\|not specified [RCV000608996]	benign\|no classifications from unflagged records	1	150487418	150487421	Human		name
13533329	CV498066	single nucleotide variant	NM_025150.5(TARS2):c.1719-16C>A	not provided [RCV002064023]\|not specified [RCV000601629]	likely benign	1	150504616	150504616	Human		name
14741045	CV657028	single nucleotide variant	NM_025150.5(TARS2):c.387+310G>T	not provided [RCV000840606]	benign	1	150489397	150489397	Human		name
14741043	CV657029	single nucleotide variant	NM_025150.5(TARS2):c.388-266C>T	not provided [RCV000840605]	benign	1	150490335	150490335	Human		name
14730847	CV657059	single nucleotide variant	NM_025150.5(TARS2):c.775-116A>G	not provided [RCV000835861]	benign	1	150496366	150496366	Human		name
14730850	CV657061	single nucleotide variant	NM_025150.5(TARS2):c.1020+96C>T	not provided [RCV000835862]	benign	1	150497004	150497004	Human		name
14741051	CV657067	single nucleotide variant	NM_025150.5(TARS2):c.695+193C>G	not provided [RCV000840609]	benign	1	150491855	150491855	Human		name
14730854	CV657069	single nucleotide variant	NM_025150.5(TARS2):c.1238+99C>A	not provided [RCV000835864]	benign	1	150497846	150497846	Human		name
14741040	CV657071	single nucleotide variant	NM_025150.5(TARS2):c.387+238A>G	not provided [RCV000840604]	benign	1	150489325	150489325	Human		name
14709776	CV657073	single nucleotide variant	NM_025150.5(TARS2):c.513-282A>G	not provided [RCV000827516]	likely benign	1	150491112	150491112	Human		name
14741047	CV657075	single nucleotide variant	NM_025150.5(TARS2):c.696-284A>G	not provided [RCV000840607]	benign	1	150492127	150492127	Human		name
14730852	CV657078	single nucleotide variant	NM_025150.5(TARS2):c.1238+73G>A	not provided [RCV000835863]	benign	1	150497820	150497820	Human		name
14730855	CV657083	single nucleotide variant	NM_025150.5(TARS2):c.1719-47C>T	Combined oxidative phosphorylation defect type 21 [RCV001815444]\|not provided [RCV000835865]\|not specified [RCV004597890]	benign	1	150504585	150504585	Human	6	name
14730855	CV657083	single nucleotide variant	NM_025150.5(TARS2):c.1719-47C>T	Combined oxidative phosphorylation defect type 21 [RCV001815444]\|not provided [RCV000835865]\|not specified [RCV004597890]	benign	1	150504585	150504586	Human	6	name
150438057	CV1264772	duplication	NM_025150.5(TARS2):c.1617+168dup	not provided [RCV001678765]	benign	1	150499459	150499460	Human		name
150491813	CV1280642	single nucleotide variant	NM_025150.5(TARS2):c.1894-227G>C	not provided [RCV001716703]	benign	1	150505364	150505364	Human		name
14741049	CV657030	single nucleotide variant	NM_025150.5(TARS2):c.1618-295G>A	not provided [RCV000840608]	benign	1	150504040	150504040	Human		name
14741054	CV657065	single nucleotide variant	NM_025150.5(TARS2):c.1238+255C>A	not provided [RCV000840610]	benign	1	150498002	150498002	Human		name
14741055	CV657070	single nucleotide variant	NM_025150.5(TARS2):c.1238+256T>G	not provided [RCV000840611]	benign	1	150498003	150498003	Human		name
405276384	CV3193348	deletion	NM_152295.5(TARS1):c.330-6_330-4del	TARS1-related disorder [RCV003974515]	likely benign	5	33453264	33453266	Human		name , trait , alternate_id
405276683	CV3206785	deletion	NM_152295.5(TARS1):c.330-7_330-4del	TARS1-related disorder [RCV003917214]	likely benign	5	33453264	33453267	Human		name , trait , alternate_id
405272530	CV3221665	deletion	NM_152295.5(TARS1):c.330-5_330-4del	TARS1-related disorder [RCV003972136]	likely benign	5	33453264	33453265	Human		name , trait , alternate_id
12898576	CV404905	microsatellite	NM_025150.5(TARS2):c.513-10_513-8del	not provided [RCV001513146]	benign\|likely benign	1	150491381	150491383	Human		name
150470312	CV1247967	duplication	NM_025150.5(TARS2):c.66+136_66+139dup	not provided [RCV001671003]	benign	1	150487651	150487652	Human		name
405854241	CV3392925	deletion	NM_025150.5(TARS2):c.1719-8_1719-4del	not specified [RCV004527082]	uncertain significance	1	150504620	150504624	Human		name
597915694	CV3845641	deletion	NM_025150.5(TARS2):c.512+13_512+17del	not provided [RCV005183436]	likely benign	1	150490735	150490739	Human		name
150436369	CV1221830	deletion	NM_025150.5(TARS2):c.695+313_695+322del	not provided [RCV001609522]	benign	1	150491962	150491971	Human		name
150501915	CV1224330	deletion	NM_025150.5(TARS2):c.513-329_513-326del	not provided [RCV001620971]	benign	1	150491062	150491065	Human		name
150517097	CV1227834	deletion	NM_025150.5(TARS2):c.695+321_695+322del	not provided [RCV001639637]	benign	1	150491962	150491963	Human		name
150479776	CV1239443	duplication	NM_025150.5(TARS2):c.513-331_513-330dup	not provided [RCV001652606]	benign	1	150491054	150491055	Human		name
150469691	CV1268140	duplication	NM_025150.5(TARS2):c.695+321_695+322dup	not provided [RCV001695003]	benign	1	150491961	150491962	Human		name
150455214	CV1277829	duplication	NM_025150.5(TARS2):c.695+320_695+322dup	not provided [RCV001708939]	benign	1	150491961	150491962	Human		name
156308205	CV2079932	insertion	NM_025150.5(TARS2):c.387+14_387+15insAT	not provided [RCV002857513]	likely benign	1	150489100	150489101	Human		name
152090508	CV1581821	insertion	NM_025150.5(TARS2):c.1719-18_1719-17insT	not provided [RCV002077645]	likely benign	1	150504614	150504615	Human		name
28883453	CV886098	single nucleotide variant	NM_005461.5(MAFB):c.393C>A (p.His131Gln)	MAFB-related disorder [RCV003433021]\|Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001136925]\|Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV002491409]\|not provided [RCV001856748]	benign\|uncertain significance	20	40688458	40688458	Human	2	trait , alternate_id
598124395	CV3883480	duplication	TARS2, 1-BP DUP, NT988	Combined oxidative phosphorylation defect type 21 [RCV005235854]	pathogenic				Human	1	name
151353069	CV1325900	single nucleotide variant	NM_152295.5(TARS1):c.1653G>A (p.Ala551=)	TARS1-related disorder [RCV003976209]\|Trichothiodystrophy 7, nonphotosensitive [RCV001816033]\|not provided [RCV004717863]	benign	5	33461929	33461929	Human	1	name , trait , alternate_id
401723210	CV2049065	single nucleotide variant	NM_025150.5(TARS2):c.470C>T (p.Thr157Ile)	Combined oxidative phosphorylation defect type 21 [RCV003315460]\|TARS2-related disorder [RCV004731296]	uncertain significance	1	150490683	150490683	Human	1	name , trait , alternate_id
401912693	CV2827684	single nucleotide variant	NM_152295.5(TARS1):c.284C>A (p.Ala95Glu)	TARS1-related disorder [RCV003984368]\|not provided [RCV003427437]	benign	5	33448686	33448686	Human	1	name , trait , alternate_id
405286376	CV3192109	single nucleotide variant	NM_025150.5(TARS2):c.1206C>T (p.Leu402=)	TARS2-related disorder [RCV003924025]	likely benign	1	150497715	150497715	Human		name , trait , alternate_id
405266798	CV3202096	single nucleotide variant	NM_152295.5(TARS1):c.977T>C (p.Ile326Thr)	TARS1-related disorder [RCV003911574]	likely benign	5	33457396	33457396	Human		name , trait , alternate_id
405274993	CV3204581	single nucleotide variant	NM_152295.5(TARS1):c.1927G>A (p.Asp643Asn)	TARS1-related disorder [RCV003951996]\|not specified [RCV004369837]	likely benign\|uncertain significance	5	33466889	33466889	Human	1	name , trait , alternate_id
405272013	CV3206386	single nucleotide variant	NM_025150.5(TARS2):c.1470C>T (p.Phe490=)	TARS2-related disorder [RCV003972001]	likely benign	1	150498965	150498965	Human		name , trait , alternate_id
405255717	CV3210819	single nucleotide variant	NM_152295.5(TARS1):c.1738G>T (p.Gly580Cys)	TARS1-related disorder [RCV003939329]	benign	5	33462106	33462106	Human		name , trait , alternate_id
405290039	CV3213958	single nucleotide variant	NM_152295.5(TARS1):c.1155C>A (p.Thr385=)	TARS1-related disorder [RCV003926811]	benign	5	33459766	33459766	Human		name , trait , alternate_id
405258970	CV3215143	single nucleotide variant	NM_152295.5(TARS1):c.2115C>G (p.Ile705Met)	TARS1-related disorder [RCV003942194]	benign	5	33467651	33467651	Human		name , trait , alternate_id
405258939	CV3215180	single nucleotide variant	NM_152295.5(TARS1):c.197C>T (p.Ala66Val)	TARS1-related disorder [RCV003942224]	likely benign	5	33448599	33448599	Human		name , trait , alternate_id
405267068	CV3218726	single nucleotide variant	NM_025150.5(TARS2):c.1176C>T (p.Asp392=)	TARS2-related disorder [RCV003947311]	likely benign	1	150497685	150497685	Human		name , trait , alternate_id
405285707	CV3221567	single nucleotide variant	NM_152295.5(TARS1):c.1506G>A (p.Pro502=)	TARS1-related disorder [RCV003981292]	benign	5	33461250	33461250	Human		name , trait , alternate_id
408385164	CV3505823	single nucleotide variant	NM_025150.5(TARS2):c.1487C>T (p.Thr496Ile)	Combined oxidative phosphorylation defect type 21 [RCV005415344]\|TARS2-related disorder [RCV004732448]	uncertain significance	1	150498982	150498982	Human	1	name , trait , alternate_id
408367197	CV3515003	single nucleotide variant	NM_025150.5(TARS2):c.1026G>A (p.Glu342=)	TARS2-related disorder [RCV004757864]	likely benign	1	150497535	150497535	Human		name , trait , alternate_id
12840079	CV364359	single nucleotide variant	NM_025150.5(TARS2):c.81C>T (p.Thr27=)	TARS2-related disorder [RCV003970140]\|not provided [RCV000676943]\|not specified [RCV000430018]	benign	1	150487872	150487872	Human	1	name , trait , alternate_id
12839464	CV364363	single nucleotide variant	NM_025150.5(TARS2):c.366C>T (p.Phe122=)	TARS2-related disorder [RCV003942435]\|not provided [RCV002522509]\|not specified [RCV000428852]	likely benign	1	150489066	150489066	Human	1	name , trait , alternate_id
12844578	CV364384	single nucleotide variant	NM_025150.5(TARS2):c.1317C>T (p.Ala439=)	TARS2-related disorder [RCV003912652]\|not provided [RCV000676945]\|not specified [RCV000438239]	benign	1	150498580	150498580	Human	1	name , trait , alternate_id
12834689	CV364415	single nucleotide variant	NM_025150.5(TARS2):c.1197A>G (p.Thr399=)	TARS2-related disorder [RCV003912645]\|not provided [RCV000969410]\|not specified [RCV000420385]	benign	1	150497706	150497706	Human	1	name , trait , alternate_id
12841252	CV364464	single nucleotide variant	NM_025150.5(TARS2):c.1076C>T (p.Thr359Met)	TARS2-related disorder [RCV003912663]\|not provided [RCV002062395]\|not specified [RCV000432236]	benign	1	150497585	150497585	Human	1	name , trait , alternate_id
13592755	CV498036	single nucleotide variant	NM_025150.5(TARS2):c.1160C>T (p.Pro387Leu)	TARS2-related disorder [RCV003980187]\|not provided [RCV000676944]	likely benign\|uncertain significance	1	150497669	150497669	Human	1	name , trait , alternate_id
13529492	CV498069	single nucleotide variant	NM_025150.5(TARS2):c.1353G>A (p.Leu451=)	TARS2-related disorder [RCV003962791]\|not provided [RCV003117401]\|not specified [RCV000600329]	likely benign	1	150498616	150498616	Human	1	name , trait , alternate_id
15175818	CV699066	single nucleotide variant	NM_152295.5(TARS1):c.231A>C (p.Glu77Asp)	TARS1-related disorder [RCV003978217]\|not provided [RCV000950677]	benign	5	33448633	33448633	Human	1	name , trait , alternate_id
15175824	CV699067	single nucleotide variant	NM_152295.5(TARS1):c.525C>T (p.Tyr175=)	TARS1-related disorder [RCV003978218]\|not provided [RCV000950678]	benign	5	33455016	33455016	Human	1	name , trait , alternate_id
15164240	CV699068	single nucleotide variant	NM_152295.5(TARS1):c.1739G>A (p.Gly580Asp)	TARS1-related disorder [RCV003913245]\|not provided [RCV000948291]	benign	5	33462107	33462107	Human	1	name , trait , alternate_id
15127076	CV709882	single nucleotide variant	NM_152295.5(TARS1):c.62G>A (p.Gly21Asp)	TARS1-related disorder [RCV003916136]\|Trichothiodystrophy 7, nonphotosensitive [RCV002489370]\|not provided [RCV000963842]	benign\|likely benign	5	33445328	33445328	Human	1	name , trait , alternate_id
15195541	CV721432	single nucleotide variant	NM_152295.5(TARS1):c.352G>A (p.Val118Ile)	TARS1-related disorder [RCV003920736]\|not provided [RCV000889531]	benign	5	33453311	33453311	Human	1	name , trait , alternate_id
596928178	CV3541398	deletion	NM_005450.6(NOG):c.509del (p.Pro170fs)	Brachydactyly type B2 [RCV004797270]	likely pathogenic	17	56594731	56594731	Human	1	alternate_id
596928832	CV3541630	single nucleotide variant	NM_005450.6(NOG):c.545G>C (p.Arg182Pro)	Brachydactyly type B2 [RCV004797503]	uncertain significance	17	56594768	56594768	Human	1	alternate_id
12743337	CV362070	single nucleotide variant	NM_005450.6(NOG):c.611G>A (p.Arg204Gln)	Brachydactyly type B2 [RCV001254352]\|Tarsal-carpal coalition syndrome [RCV000416327]\|not provided [RCV002521489]	pathogenic\|likely pathogenic\|uncertain significance	17	56594834	56594834	Human	2	trait , alternate_id
405046634	CV2856211	single nucleotide variant	NM_025150.5(TARS2):c.9G>C (p.Leu3=)	not provided [RCV003579495]	likely benign	1	150487459	150487459	Human		name
597968909	CV3791146	single nucleotide variant	NM_025150.5(TARS2):c.18G>A (p.Arg6=)	not provided [RCV005141178]	likely benign	1	150487468	150487468	Human		name
151817391	CV1505592	single nucleotide variant	NM_025150.5(TARS2):c.5C>T (p.Ala2Val)	not provided [RCV002049453]	uncertain significance	1	150487455	150487455	Human		name
156414981	CV1964829	single nucleotide variant	NM_025150.5(TARS2):c.8T>A (p.Leu3Gln)	not provided [RCV002588911]	uncertain significance	1	150487458	150487458	Human		name
156338976	CV1973963	single nucleotide variant	NM_025150.5(TARS2):c.1A>T (p.Met1Leu)	not provided [RCV002601178]	uncertain significance	1	150487451	150487451	Human		name
597794789	CV3612447	single nucleotide variant	NM_152334.3(TARS3):c.8C>G (p.Ala3Gly)	not specified [RCV004877972]	uncertain significance	15	101724380	101724380	Human		name
156442598	CV1938834	single nucleotide variant	NM_025150.5(TARS2):c.171A>G (p.Glu57=)	not provided [RCV003112945]	likely benign	1	150487962	150487962	Human		name
405236587	CV2884690	single nucleotide variant	NM_025150.5(TARS2):c.177G>A (p.Arg59=)	not provided [RCV003556524]	likely benign	1	150487968	150487968	Human		name
405137487	CV3130657	single nucleotide variant	NM_025150.5(TARS2):c.186G>A (p.Lys62=)	not provided [RCV003838890]	likely benign	1	150487977	150487977	Human		name
405764446	CV3327950	single nucleotide variant	NM_152295.5(TARS1):c.26C>T (p.Pro9Leu)	not specified [RCV004469194]	uncertain significance	5	33441112	33441112	Human		name
407511765	CV3475241	single nucleotide variant	NM_152295.5(TARS1):c.16G>C (p.Ala6Pro)	not specified [RCV004673220]	uncertain significance	5	33441102	33441102	Human		name
13525277	CV498058	single nucleotide variant	NM_025150.5(TARS2):c.141A>G (p.Val47=)	not provided [RCV005091661]\|not specified [RCV000602943]	likely benign	1	150487932	150487932	Human		name
152075477	CV1652979	single nucleotide variant	NM_025150.5(TARS2):c.402C>T (p.Ser134=)	not provided [RCV002148639]	likely benign	1	150490615	150490615	Human		name
155964754	CV2048667	single nucleotide variant	NM_025150.5(TARS2):c.61C>T (p.His21Tyr)	not provided [RCV002776436]	uncertain significance	1	150487511	150487511	Human		name
156310185	CV2076233	single nucleotide variant	NM_025150.5(TARS2):c.399C>T (p.His133=)	not provided [RCV002857616]	likely benign	1	150490612	150490612	Human		name
156032699	CV2078959	single nucleotide variant	NM_025150.5(TARS2):c.420G>A (p.Gly140=)	not provided [RCV002867119]	likely benign	1	150490633	150490633	Human		name
156129411	CV2279675	single nucleotide variant	NM_025150.5(TARS2):c.31C>T (p.Arg11Trp)	Inborn genetic diseases [RCV002849593]	uncertain significance	1	150487481	150487481	Human	1	name
405085767	CV2862146	single nucleotide variant	NM_025150.5(TARS2):c.624G>A (p.Leu208=)	not provided [RCV003549554]	likely benign	1	150491505	150491505	Human		name
405190391	CV2924730	single nucleotide variant	NM_025150.5(TARS2):c.531G>A (p.Glu177=)	not provided [RCV003564850]	likely benign	1	150491412	150491412	Human		name
405048140	CV3137875	single nucleotide variant	NM_025150.5(TARS2):c.756A>G (p.Gly252=)	not provided [RCV003831913]	likely benign	1	150492471	150492471	Human		name
404987631	CV3179772	single nucleotide variant	NM_025150.5(TARS2):c.732C>T (p.His244=)	not provided [RCV003881249]	likely benign	1	150492447	150492447	Human		name
405764467	CV3327953	single nucleotide variant	NM_152295.5(TARS1):c.39G>C (p.Met13Ile)	not specified [RCV004469197]	uncertain significance	5	33441125	33441125	Human		name
405764541	CV3327964	single nucleotide variant	NM_025150.5(TARS2):c.91T>A (p.Trp31Arg)	Inborn genetic diseases [RCV004469208]	uncertain significance	1	150487882	150487882	Human	1	name
12837750	CV364378	single nucleotide variant	NM_025150.5(TARS2):c.933C>G (p.Leu311=)	not specified [RCV000425703]	likely benign	1	150496821	150496821	Human		name
597720786	CV3718810	single nucleotide variant	NM_025150.5(TARS2):c.55A>G (p.Arg19Gly)	Combined oxidative phosphorylation defect type 21 [RCV005035722]	uncertain significance	1	150487505	150487505	Human	1	name
597667348	CV3732676	single nucleotide variant	NM_025150.5(TARS2):c.82C>T (p.Pro28Ser)	not provided [RCV005004506]	uncertain significance	1	150487873	150487873	Human		name
597854885	CV3747667	single nucleotide variant	NM_025150.5(TARS2):c.369T>C (p.Asp123=)	not provided [RCV005066678]	likely benign	1	150489069	150489069	Human		name
597964410	CV3848048	single nucleotide variant	NM_025150.5(TARS2):c.384A>G (p.Lys128=)	not provided [RCV005193927]	likely benign	1	150489084	150489084	Human		name
597912802	CV3850698	single nucleotide variant	NM_025150.5(TARS2):c.390G>A (p.Val130=)	not provided [RCV005203846]	likely benign	1	150490603	150490603	Human		name
598194623	CV3920176	single nucleotide variant	NM_152295.5(TARS1):c.56C>G (p.Pro19Arg)	not specified [RCV005289102]	uncertain significance	5	33441142	33441142	Human		name
617150015	CV4021602	single nucleotide variant	NM_152295.5(TARS1):c.330T>C (p.Ser110=)	not provided [RCV005425571]	likely benign	5	33453289	33453289	Human		name
13789898	CV549854	single nucleotide variant	NM_025150.5(TARS2):c.49G>A (p.Ala17Thr)	Combined oxidative phosphorylation defect type 21 [RCV002470947]\|Inborn genetic diseases [RCV003278984]\|not provided [RCV000676942]	uncertain significance	1	150487499	150487499	Human	2	name
14739971	CV655031	single nucleotide variant	NM_025150.5(TARS2):c.420G>T (p.Gly140=)	not provided [RCV000840133]	likely benign	1	150490633	150490633	Human		name
14744263	CV655032	single nucleotide variant	NM_025150.5(TARS2):c.900G>C (p.Arg300=)	not provided [RCV000842633]	likely benign	1	150496607	150496607	Human		name
15119608	CV780320	single nucleotide variant	NM_025150.5(TARS2):c.801A>G (p.Ser267=)	not provided [RCV000979146]	likely benign	1	150496508	150496508	Human		name
150553830	CV1306631	single nucleotide variant	NM_025150.5(TARS2):c.1812G>C (p.Gly604=)	not provided [RCV001769695]	likely benign	1	150504725	150504725	Human		name
151865362	CV1370997	single nucleotide variant	NM_025150.5(TARS2):c.236C>T (p.Thr79Ile)	Inborn genetic diseases [RCV004970406]\|not provided [RCV001884466]	uncertain significance	1	150488027	150488027	Human	1	name
152063486	CV1542424	single nucleotide variant	NM_025150.5(TARS2):c.1374C>T (p.Asp458=)	not provided [RCV002208991]	likely benign	1	150498637	150498637	Human		name
152093659	CV1561203	single nucleotide variant	NM_025150.5(TARS2):c.2127G>A (p.Thr709=)	not provided [RCV002094539]	likely benign	1	150507034	150507034	Human		name
152026193	CV1639324	single nucleotide variant	NM_025150.5(TARS2):c.1623C>T (p.Asp541=)	not provided [RCV002185070]	likely benign	1	150504340	150504340	Human		name
152123647	CV1665577	single nucleotide variant	NM_025150.5(TARS2):c.1092G>A (p.Gln364=)	not provided [RCV002198390]	likely benign	1	150497601	150497601	Human		name
155741053	CV1777156	single nucleotide variant	NM_025150.5(TARS2):c.193C>G (p.Leu65Val)	not provided [RCV002302413]	uncertain significance	1	150487984	150487984	Human		name
156118924	CV1952566	single nucleotide variant	NM_025150.5(TARS2):c.1725G>A (p.Ala575=)	not provided [RCV002571784]	likely benign	1	150504638	150504638	Human		name
155967230	CV1974368	single nucleotide variant	NM_025150.5(TARS2):c.1509G>T (p.Gly503=)	not provided [RCV002617011]	likely benign	1	150499004	150499004	Human		name
156068409	CV1975546	single nucleotide variant	NM_025150.5(TARS2):c.1443C>T (p.Ser481=)	not provided [RCV002591199]	likely benign	1	150498938	150498938	Human		name
155983415	CV1979466	single nucleotide variant	NM_025150.5(TARS2):c.1452C>T (p.Ala484=)	not provided [RCV002617704]	likely benign	1	150498947	150498947	Human		name
156349460	CV2005529	single nucleotide variant	NM_025150.5(TARS2):c.143A>G (p.Lys48Arg)	not provided [RCV002650773]	uncertain significance	1	150487934	150487934	Human		name
156298426	CV2075737	single nucleotide variant	NM_025150.5(TARS2):c.1686A>G (p.Gln562=)	not provided [RCV002857051]	likely benign	1	150504403	150504403	Human		name
156186268	CV2086558	single nucleotide variant	NM_025150.5(TARS2):c.1131C>A (p.Ala377=)	not provided [RCV002851993]	likely benign	1	150497640	150497640	Human		name
156141751	CV2109967	single nucleotide variant	NM_025150.5(TARS2):c.159G>A (p.Met53Ile)	Inborn genetic diseases [RCV002928580]\|not provided [RCV002942390]	likely benign\|uncertain significance	1	150487950	150487950	Human	1	name
156266701	CV2140078	single nucleotide variant	NM_025150.5(TARS2):c.1767C>T (p.Leu589=)	not provided [RCV003009117]	likely benign	1	150504680	150504680	Human		name
156091858	CV2142909	single nucleotide variant	NM_025150.5(TARS2):c.1248C>T (p.Phe416=)	not provided [RCV002979635]	likely benign	1	150498511	150498511	Human		name
156298735	CV2159459	single nucleotide variant	NM_025150.5(TARS2):c.1053G>A (p.Val351=)	not provided [RCV003045449]	uncertain significance	1	150497562	150497562	Human		name
156363933	CV2180719	single nucleotide variant	NM_025150.5(TARS2):c.1677T>G (p.Leu559=)	not provided [RCV003049210]	likely benign	1	150504394	150504394	Human		name
401742502	CV2715246	single nucleotide variant	NM_025150.5(TARS2):c.190T>C (p.Ser64Pro)	Inborn genetic diseases [RCV003292845]	uncertain significance	1	150487981	150487981	Human	1	name
401916249	CV2831016	single nucleotide variant	NM_025150.5(TARS2):c.191C>G (p.Ser64Ter)	not provided [RCV003443285]	likely pathogenic	1	150487982	150487982	Human		name
402498537	CV2871823	single nucleotide variant	NM_025150.5(TARS2):c.1365G>A (p.Gln455=)	not provided [RCV003545637]	likely benign	1	150498628	150498628	Human		name
402487531	CV3033999	single nucleotide variant	NM_025150.5(TARS2):c.1035T>C (p.His345=)	not provided [RCV003713370]	likely benign	1	150497544	150497544	Human		name
405210973	CV3059079	single nucleotide variant	NM_025150.5(TARS2):c.1635C>T (p.His545=)	not provided [RCV003732002]	likely benign	1	150504352	150504352	Human		name
405764324	CV3327931	single nucleotide variant	NM_152295.5(TARS1):c.123T>G (p.Asp41Glu)	not specified [RCV004469175]	uncertain significance	5	33445389	33445389	Human		name
405764365	CV3327937	single nucleotide variant	NM_152295.5(TARS1):c.146C>T (p.Pro49Leu)	not specified [RCV004469181]	uncertain significance	5	33448548	33448548	Human		name
405764377	CV3327939	single nucleotide variant	NM_152295.5(TARS1):c.163T>C (p.Tyr55His)	not specified [RCV004469183]	uncertain significance	5	33448565	33448565	Human		name
405764439	CV3327949	single nucleotide variant	NM_152295.5(TARS1):c.214C>G (p.Leu72Val)	not specified [RCV004469193]	uncertain significance	5	33448616	33448616	Human		name
405764535	CV3327963	single nucleotide variant	NM_025150.5(TARS2):c.253C>T (p.Arg85Trp)	Inborn genetic diseases [RCV004469207]	uncertain significance	1	150488044	150488044	Human	1	name
405764571	CV3327969	single nucleotide variant	NM_152334.3(TARS3):c.131A>G (p.Gln44Arg)	not specified [RCV004469213]	uncertain significance	15	101724257	101724257	Human		name
405764582	CV3327971	single nucleotide variant	NM_152334.3(TARS3):c.134C>A (p.Ala45Glu)	not specified [RCV004469215]	uncertain significance	15	101724254	101724254	Human		name
405764587	CV3327972	single nucleotide variant	NM_152334.3(TARS3):c.134C>G (p.Ala45Gly)	not specified [RCV004469216]	uncertain significance	15	101724254	101724254	Human		name
405764605	CV3327975	single nucleotide variant	NM_152334.3(TARS3):c.146G>T (p.Cys49Phe)	not specified [RCV004469219]	uncertain significance	15	101724242	101724242	Human		name
405764711	CV3327992	single nucleotide variant	NM_152334.3(TARS3):c.227C>T (p.Ala76Val)	not specified [RCV004469236]	uncertain significance	15	101724161	101724161	Human		name
405764722	CV3327994	single nucleotide variant	NM_152334.3(TARS3):c.257A>G (p.Glu86Gly)	not specified [RCV004469238]	uncertain significance	15	101724131	101724131	Human		name
407511782	CV3475248	single nucleotide variant	NM_152334.3(TARS3):c.107A>C (p.Gln36Pro)	not specified [RCV004673226]	uncertain significance	15	101724281	101724281	Human		name
597749403	CV3612433	single nucleotide variant	NM_152295.5(TARS1):c.131G>A (p.Arg44Gln)	not specified [RCV004866453]	uncertain significance	5	33445397	33445397	Human		name
597749445	CV3612443	single nucleotide variant	NM_152334.3(TARS3):c.236G>A (p.Arg79Gln)	not specified [RCV004866461]	uncertain significance	15	101724152	101724152	Human		name
597749468	CV3612448	single nucleotide variant	NM_152334.3(TARS3):c.287C>A (p.Ala96Asp)	not specified [RCV004866465]	uncertain significance	15	101724101	101724101	Human		name
12840819	CV364440	single nucleotide variant	NM_025150.5(TARS2):c.1251C>T (p.Ala417=)	not provided [RCV000948559]\|not specified [RCV000431433]	benign\|likely benign	1	150498514	150498514	Human	1	name
12840819	CV364440	single nucleotide variant	NM_025150.5(TARS2):c.1251C>T (p.Ala417=)	not provided [RCV000948559]\|not specified [RCV000431433]	benign\|likely benign	1	150498514	150498515	Human	1	name
12847814	CV364456	single nucleotide variant	NM_025150.5(TARS2):c.2142C>T (p.Ala714=)	not provided [RCV003718237]\|not specified [RCV000444159]	likely benign	1	150507049	150507049	Human		name
12845448	CV364475	single nucleotide variant	NM_025150.5(TARS2):c.2103G>A (p.Gln701=)	not provided [RCV000955776]\|not specified [RCV000439824]	benign	1	150507010	150507010	Human		name
597848469	CV3736834	single nucleotide variant	NM_025150.5(TARS2):c.1260C>T (p.Pro420=)	not provided [RCV005065993]	likely benign	1	150498523	150498523	Human		name
597885345	CV3799740	single nucleotide variant	NM_025150.5(TARS2):c.1854C>T (p.Val618=)	not provided [RCV005150407]	likely benign	1	150504939	150504939	Human		name
597976085	CV3829085	single nucleotide variant	NM_025150.5(TARS2):c.1137G>A (p.Gln379=)	not provided [RCV005169534]	likely benign	1	150497646	150497646	Human		name
597921957	CV3843166	single nucleotide variant	NM_025150.5(TARS2):c.1212C>G (p.Leu404=)	not provided [RCV005184458]	likely benign	1	150497721	150497721	Human		name
598264997	CV3920178	single nucleotide variant	NM_152295.5(TARS1):c.128G>A (p.Gly43Asp)	not specified [RCV005280886]	uncertain significance	5	33445394	33445394	Human		name
598194683	CV3920189	single nucleotide variant	NM_025150.5(TARS2):c.206A>C (p.Gln69Pro)	Inborn genetic diseases [RCV005289112]	uncertain significance	1	150487997	150487997	Human	1	name
598194716	CV3920197	single nucleotide variant	NM_152334.3(TARS3):c.187G>A (p.Asp63Asn)	not specified [RCV005289120]	uncertain significance	15	101724201	101724201	Human		name
598194727	CV3920199	single nucleotide variant	NM_152334.3(TARS3):c.290G>A (p.Gly97Asp)	not specified [RCV005289122]	uncertain significance	15	101724098	101724098	Human		name
13538201	CV498060	single nucleotide variant	NM_025150.5(TARS2):c.1131C>T (p.Ala377=)	not provided [RCV002531573]\|not specified [RCV000611480]	likely benign	1	150497640	150497640	Human		name
13789914	CV549856	single nucleotide variant	NM_025150.5(TARS2):c.2052G>C (p.Arg684=)	not provided [RCV000676948]	benign\|likely benign	1	150506959	150506959	Human		name
15182318	CV731698	single nucleotide variant	NM_025150.5(TARS2):c.1011G>A (p.Ala337=)	not provided [RCV000907793]	likely benign	1	150496899	150496899	Human		name
15201952	CV745662	single nucleotide variant	NM_025150.5(TARS2):c.1344G>A (p.Leu448=)	not provided [RCV000913295]	likely benign	1	150498607	150498607	Human		name
21071735	CV794412	single nucleotide variant	NM_025150.5(TARS2):c.101A>G (p.Glu34Gly)	not provided [RCV000994095]	uncertain significance	1	150487892	150487892	Human		name
126727829	CV1015520	single nucleotide variant	NM_025150.5(TARS2):c.736C>T (p.Arg246Trp)	Combined oxidative phosphorylation defect type 21 [RCV001332596]\|not provided [RCV002546581]	uncertain significance	1	150492451	150492451	Human	1	name
126727831	CV1015521	single nucleotide variant	NM_025150.5(TARS2):c.773C>T (p.Ser258Leu)	Combined oxidative phosphorylation defect type 21 [RCV001332597]\|not provided [RCV001865759]	conflicting interpretations of pathogenicity\|uncertain significance	1	150492488	150492488	Human	1	name
126727834	CV1015522	single nucleotide variant	NM_025150.5(TARS2):c.887A>G (p.Glu296Gly)	Combined oxidative phosphorylation defect type 21 [RCV001332598]	uncertain significance	1	150496594	150496594	Human	1	name
127287538	CV1163105	single nucleotide variant	NM_025150.5(TARS2):c.968T>G (p.Phe323Cys)	Combined oxidative phosphorylation defect type 21 [RCV001527458]\|Failure to thrive [RCV002226780]	pathogenic\|likely pathogenic\|uncertain significance	1	150496856	150496856	Human	6	name
150532294	CV1308498	single nucleotide variant	NM_025150.5(TARS2):c.722A>G (p.Gln241Arg)	not provided [RCV001757542]	likely benign	1	150492437	150492437	Human		name
151662648	CV1333357	single nucleotide variant	NM_025150.5(TARS2):c.470C>G (p.Thr157Arg)	Combined oxidative phosphorylation defect type 21 [RCV001837554]	pathogenic	1	150490683	150490683	Human	1	name
151837978	CV1350161	single nucleotide variant	NM_025150.5(TARS2):c.979C>T (p.Arg327Ter)	not provided [RCV002014999]	uncertain significance	1	150496867	150496867	Human		name
151891187	CV1356361	single nucleotide variant	NM_025150.5(TARS2):c.445G>A (p.Ala149Thr)	Inborn genetic diseases [RCV004970499]\|not provided [RCV001943278]	uncertain significance	1	150490658	150490658	Human	1	name
151724483	CV1369850	single nucleotide variant	NM_025150.5(TARS2):c.521G>A (p.Arg174Gln)	not provided [RCV001945345]	uncertain significance	1	150491402	150491402	Human		name
151769656	CV1451021	single nucleotide variant	NM_025150.5(TARS2):c.911G>A (p.Arg304His)	not provided [RCV001929392]	uncertain significance	1	150496618	150496618	Human		name
8698641	CV152759	single nucleotide variant	NM_025150.5(TARS2):c.845C>T (p.Pro282Leu)	Combined oxidative phosphorylation defect type 21 [RCV000132557]	pathogenic\|likely pathogenic	1	150496552	150496552	Human	1	name
156268354	CV1915138	single nucleotide variant	NM_025150.5(TARS2):c.566C>A (p.Thr189Lys)	not provided [RCV002628006]	uncertain significance	1	150491447	150491447	Human		name
156211332	CV1955773	single nucleotide variant	NM_025150.5(TARS2):c.561A>C (p.Glu187Asp)	not provided [RCV002575166]	uncertain significance	1	150491442	150491442	Human		name
156376528	CV1956604	single nucleotide variant	NM_025150.5(TARS2):c.908G>A (p.Arg303Gln)	not provided [RCV002582848]	uncertain significance	1	150496615	150496615	Human		name
156088269	CV1989635	single nucleotide variant	NM_025150.5(TARS2):c.578G>A (p.Arg193Gln)	Inborn genetic diseases [RCV005288781]\|not provided [RCV002639127]	likely benign\|uncertain significance	1	150491459	150491459	Human	1	name
156176709	CV2010401	single nucleotide variant	NM_025150.5(TARS2):c.850A>G (p.Thr284Ala)	not provided [RCV002710652]	uncertain significance	1	150496557	150496557	Human		name
401723206	CV2049064	single nucleotide variant	NM_025150.5(TARS2):c.464C>T (p.Pro155Leu)	Combined oxidative phosphorylation defect type 21 [RCV003315459]	likely pathogenic	1	150490677	150490677	Human	1	name
401723214	CV2049067	single nucleotide variant	NM_025150.5(TARS2):c.980G>A (p.Arg327Gln)	Combined oxidative phosphorylation defect type 21 [RCV003315462]	likely pathogenic	1	150496868	150496868	Human	1	name
155922637	CV2073774	single nucleotide variant	NM_025150.5(TARS2):c.325C>T (p.Arg109Trp)	not provided [RCV002838386]	uncertain significance	1	150489025	150489025	Human		name
156143346	CV2090760	duplication	NM_025150.5(TARS2):c.1333dup (p.Leu445fs)	not provided [RCV002890388]	uncertain significance	1	150498595	150498596	Human		name
156301876	CV2170354	single nucleotide variant	NM_025150.5(TARS2):c.451C>T (p.Leu151Phe)	not provided [RCV003045591]	uncertain significance	1	150490664	150490664	Human		name
156231037	CV2173002	single nucleotide variant	NM_025150.5(TARS2):c.389T>G (p.Val130Gly)	not provided [RCV003059305]	uncertain significance	1	150490602	150490602	Human		name
155926390	CV2208190	single nucleotide variant	NM_025150.5(TARS2):c.604C>T (p.Arg202Trp)	Inborn genetic diseases [RCV002683563]	uncertain significance	1	150491485	150491485	Human	1	name
156065943	CV2284430	single nucleotide variant	NM_025150.5(TARS2):c.914T>C (p.Ile305Thr)	Inborn genetic diseases [RCV002868431]	uncertain significance	1	150496621	150496621	Human	1	name
156105936	CV2307523	single nucleotide variant	NM_025150.5(TARS2):c.865G>T (p.Val289Phe)	Inborn genetic diseases [RCV002888914]	uncertain significance	1	150496572	150496572	Human	1	name
156162707	CV2323552	single nucleotide variant	NM_025150.5(TARS2):c.398A>G (p.His133Arg)	Inborn genetic diseases [RCV002929373]	uncertain significance	1	150490611	150490611	Human	1	name
329367230	CV2427284	single nucleotide variant	NM_152334.3(TARS3):c.823A>G (p.Ser275Gly)	not specified [RCV004248148]	uncertain significance	15	101708900	101708900	Human		name
329372920	CV2428708	single nucleotide variant	NM_152295.5(TARS1):c.805A>T (p.Thr269Ser)	not specified [RCV004255500]	uncertain significance	5	33456195	33456195	Human		name
329373797	CV2447411	single nucleotide variant	NM_152295.5(TARS1):c.785G>A (p.Arg262Gln)	not specified [RCV004262686]	uncertain significance	5	33456175	33456175	Human		name
401720397	CV2673309	single nucleotide variant	NM_152334.3(TARS3):c.808G>A (p.Asp270Asn)	not specified [RCV004288297]	uncertain significance	15	101711884	101711884	Human		name
401739238	CV2676463	single nucleotide variant	NM_025150.5(TARS2):c.587G>A (p.Arg196Gln)	Inborn genetic diseases [RCV003240348]	uncertain significance	1	150491468	150491468	Human	1	name
401772207	CV2687448	single nucleotide variant	NM_152334.3(TARS3):c.671A>G (p.Asp224Gly)	not specified [RCV004300693]	uncertain significance	15	101714859	101714859	Human		name
401783847	CV2720493	single nucleotide variant	NM_025150.5(TARS2):c.805G>A (p.Ala269Thr)	Inborn genetic diseases [RCV003309994]	uncertain significance	1	150496512	150496512	Human	1	name
401887407	CV2771918	single nucleotide variant	NM_152334.3(TARS3):c.794A>G (p.Asp265Gly)	not specified [RCV004344622]	uncertain significance	15	101711898	101711898	Human		name
401867665	CV2780733	single nucleotide variant	NM_152295.5(TARS1):c.835A>C (p.Lys279Gln)	not specified [RCV004352066]	uncertain significance	5	33456225	33456225	Human		name
401885657	CV2783255	single nucleotide variant	NM_152295.5(TARS1):c.590A>G (p.Asn197Ser)	not specified [RCV004363871]	uncertain significance	5	33455601	33455601	Human		name
401882845	CV2788618	single nucleotide variant	NM_152295.5(TARS1):c.707A>G (p.Lys236Arg)	not specified [RCV004361110]	uncertain significance	5	33456015	33456015	Human		name
401904544	CV2814541	single nucleotide variant	NM_152334.3(TARS3):c.587C>T (p.Thr196Met)	not provided [RCV003395072]	likely benign	15	101714943	101714943	Human		name
401916759	CV2829476	single nucleotide variant	NM_025150.5(TARS2):c.634A>G (p.Asn212Asp)	not provided [RCV003443520]	uncertain significance	1	150491601	150491601	Human		name
405764452	CV3327951	single nucleotide variant	NM_152295.5(TARS1):c.299C>T (p.Thr100Ile)	not specified [RCV004469195]	uncertain significance	5	33448701	33448701	Human		name
405764459	CV3327952	single nucleotide variant	NM_152295.5(TARS1):c.392G>A (p.Arg131His)	not specified [RCV004469196]	uncertain significance	5	33453351	33453351	Human		name
405764474	CV3327954	single nucleotide variant	NM_152295.5(TARS1):c.559A>G (p.Met187Val)	not specified [RCV004469198]	uncertain significance	5	33455050	33455050	Human		name
405764480	CV3327955	single nucleotide variant	NM_152295.5(TARS1):c.568G>A (p.Glu190Lys)	not specified [RCV004469199]	uncertain significance	5	33455059	33455059	Human		name
405764485	CV3327956	single nucleotide variant	NM_152295.5(TARS1):c.784C>T (p.Arg262Trp)	not specified [RCV004469200]	uncertain significance	5	33456174	33456174	Human		name
405764491	CV3327957	single nucleotide variant	NM_152295.5(TARS1):c.806C>T (p.Thr269Met)	not specified [RCV004469201]	uncertain significance	5	33456196	33456196	Human		name
405764496	CV3327958	single nucleotide variant	NM_152295.5(TARS1):c.821C>A (p.Ala274Asp)	not specified [RCV004469202]	uncertain significance	5	33456211	33456211	Human		name
405764503	CV3327959	single nucleotide variant	NM_152295.5(TARS1):c.871A>G (p.Met291Val)	not specified [RCV004469203]	uncertain significance	5	33457290	33457290	Human		name
405764510	CV3327960	single nucleotide variant	NM_152295.5(TARS1):c.892T>C (p.Tyr298His)	not specified [RCV004469204]	uncertain significance	5	33457311	33457311	Human		name
405764726	CV3327995	single nucleotide variant	NM_152334.3(TARS3):c.368A>T (p.Glu123Val)	not specified [RCV004469239]	uncertain significance	15	101723094	101723094	Human		name
405764732	CV3327996	single nucleotide variant	NM_152334.3(TARS3):c.370G>T (p.Val124Leu)	not specified [RCV004469240]	uncertain significance	15	101721322	101721322	Human		name
405764735	CV3327997	single nucleotide variant	NM_152334.3(TARS3):c.391A>G (p.Ile131Val)	not specified [RCV004469241]	uncertain significance	15	101721301	101721301	Human		name
405764743	CV3327998	single nucleotide variant	NM_152334.3(TARS3):c.415G>A (p.Glu139Lys)	not specified [RCV004469242]	uncertain significance	15	101721277	101721277	Human		name
405764749	CV3327999	single nucleotide variant	NM_152334.3(TARS3):c.628C>A (p.Arg210Ser)	not specified [RCV004469243]	uncertain significance	15	101714902	101714902	Human		name
405764755	CV3328000	single nucleotide variant	NM_152334.3(TARS3):c.629G>A (p.Arg210His)	not specified [RCV004469244]	uncertain significance	15	101714901	101714901	Human		name
405764765	CV3328002	single nucleotide variant	NM_152334.3(TARS3):c.691G>T (p.Val231Leu)	not specified [RCV004469246]	uncertain significance	15	101712001	101712001	Human		name
405764771	CV3328003	single nucleotide variant	NM_152334.3(TARS3):c.730A>G (p.Met244Val)	not specified [RCV004469247]	uncertain significance	15	101711962	101711962	Human		name
405764776	CV3328004	single nucleotide variant	NM_152334.3(TARS3):c.817G>A (p.Val273Met)	not specified [RCV004469248]	uncertain significance	15	101708906	101708906	Human		name
405764781	CV3328005	single nucleotide variant	NM_152334.3(TARS3):c.880C>T (p.Pro294Ser)	not specified [RCV004469249]	uncertain significance	15	101708843	101708843	Human		name
405764787	CV3328006	single nucleotide variant	NM_152334.3(TARS3):c.976G>T (p.Ala326Ser)	not specified [RCV004469250]	uncertain significance	15	101705702	101705702	Human		name
407511759	CV3475238	single nucleotide variant	NM_152295.5(TARS1):c.551A>G (p.Tyr184Cys)	not specified [RCV004673218]	uncertain significance	5	33455042	33455042	Human		name
407511761	CV3475239	single nucleotide variant	NM_152295.5(TARS1):c.407A>G (p.Asp136Gly)	not specified [RCV004673219]	uncertain significance	5	33453366	33453366	Human		name
407511769	CV3475243	single nucleotide variant	NM_152334.3(TARS3):c.605A>G (p.Asn202Ser)	not specified [RCV004673222]	uncertain significance	15	101714925	101714925	Human		name
407511779	CV3475246	single nucleotide variant	NM_152334.3(TARS3):c.356A>C (p.Glu119Ala)	not specified [RCV004673225]	uncertain significance	15	101723106	101723106	Human		name
407511792	CV3475251	single nucleotide variant	NM_152334.3(TARS3):c.370G>A (p.Val124Met)	not specified [RCV004673229]	uncertain significance	15	101721322	101721322	Human		name
596926237	CV3536173	single nucleotide variant	NM_025150.5(TARS2):c.983G>C (p.Gly328Ala)	Combined oxidative phosphorylation defect type 21 [RCV004788603]	uncertain significance	1	150496871	150496871	Human	1	name
597749387	CV3612430	single nucleotide variant	NM_152295.5(TARS1):c.412A>G (p.Thr138Ala)	not specified [RCV004866450]	uncertain significance	5	33453371	33453371	Human		name
597749398	CV3612432	single nucleotide variant	NM_152295.5(TARS1):c.776A>T (p.Asp259Val)	not specified [RCV004866452]	uncertain significance	5	33456166	33456166	Human		name
597634377	CV3612437	single nucleotide variant	NM_025150.5(TARS2):c.929A>C (p.Glu310Ala)	Inborn genetic diseases [RCV004969320]	uncertain significance	1	150496817	150496817	Human	1	name
597749419	CV3612438	single nucleotide variant	NM_152334.3(TARS3):c.367G>A (p.Glu123Lys)	not specified [RCV004866456]	uncertain significance	15	101723095	101723095	Human		name
597749425	CV3612439	single nucleotide variant	NM_152334.3(TARS3):c.470A>T (p.Asp157Val)	not specified [RCV004866457]	uncertain significance	15	101721222	101721222	Human		name
597749441	CV3612442	single nucleotide variant	NM_152334.3(TARS3):c.808G>T (p.Asp270Tyr)	not specified [RCV004866460]	uncertain significance	15	101711884	101711884	Human		name
597749490	CV3612453	single nucleotide variant	NM_152334.3(TARS3):c.545A>G (p.Tyr182Cys)	not specified [RCV004866469]	uncertain significance	15	101721147	101721147	Human		name
12845239	CV364438	single nucleotide variant	NM_025150.5(TARS2):c.562C>A (p.Leu188Ile)	not provided [RCV001519161]	benign\|likely benign	1	150491443	150491443	Human		name
598264993	CV3920175	single nucleotide variant	NM_152295.5(TARS1):c.451G>T (p.Ala151Ser)	not specified [RCV005280885]	uncertain significance	5	33453410	33453410	Human		name
598265005	CV3920180	single nucleotide variant	NM_152295.5(TARS1):c.436G>A (p.Asp146Asn)	not specified [RCV005280887]	uncertain significance	5	33453395	33453395	Human		name
598194655	CV3920183	single nucleotide variant	NM_152295.5(TARS1):c.740C>T (p.Pro247Leu)	not specified [RCV005289107]	uncertain significance	5	33456048	33456048	Human		name
598194661	CV3920184	single nucleotide variant	NM_152295.5(TARS1):c.945A>T (p.Gln315His)	not specified [RCV005289108]	uncertain significance	5	33457364	33457364	Human		name
598194674	CV3920186	single nucleotide variant	NM_025150.5(TARS2):c.812A>G (p.Glu271Gly)	Inborn genetic diseases [RCV005289110]	uncertain significance	1	150496519	150496519	Human	1	name
598265011	CV3920187	single nucleotide variant	NM_025150.5(TARS2):c.490G>T (p.Asp164Tyr)	Inborn genetic diseases [RCV005280888]	uncertain significance	1	150490703	150490703	Human	1	name
598194685	CV3920190	single nucleotide variant	NM_025150.5(TARS2):c.956C>T (p.Pro319Leu)	Inborn genetic diseases [RCV005289113]	uncertain significance	1	150496844	150496844	Human	1	name
598194693	CV3920192	single nucleotide variant	NM_152334.3(TARS3):c.641G>C (p.Gly214Ala)	not specified [RCV005289115]	uncertain significance	15	101714889	101714889	Human		name
598194699	CV3920193	single nucleotide variant	NM_152334.3(TARS3):c.767C>T (p.Pro256Leu)	not specified [RCV005289116]	uncertain significance	15	101711925	101711925	Human		name
598194706	CV3920195	single nucleotide variant	NM_152334.3(TARS3):c.577G>C (p.Ala193Pro)	not specified [RCV005289118]	uncertain significance	15	101714953	101714953	Human		name
598194739	CV3920201	single nucleotide variant	NM_152334.3(TARS3):c.422T>G (p.Leu141Arg)	not specified [RCV005289124]	uncertain significance	15	101721270	101721270	Human		name
598178754	CV4008486	single nucleotide variant	NM_025150.5(TARS2):c.996T>G (p.Tyr332Ter)	Combined oxidative phosphorylation defect type 21 [RCV005394005]	likely pathogenic	1	150496884	150496884	Human	1	name
616937760	CV4015134	duplication	NM_152295.5(TARS1):c.1829dup (p.Lys611fs)	Trichothiodystrophy 7, nonphotosensitive [RCV005412151]	likely pathogenic	5	33462192	33462193	Human	1	name
14396541	CV612252	single nucleotide variant	NM_025150.5(TARS2):c.326G>A (p.Arg109Gln)	Combined oxidative phosphorylation defect type 21 [RCV000761523]\|Inborn genetic diseases [RCV002533868]	conflicting interpretations of pathogenicity\|uncertain significance	1	150489026	150489026	Human	2	name
14976039	CV676990	single nucleotide variant	NM_152295.5(TARS1):c.826A>G (p.Lys276Glu)	Trichothiodystrophy 7, nonphotosensitive [RCV000850112]	pathogenic	5	33456216	33456216	Human	1	name
14976040	CV676991	single nucleotide variant	NM_152295.5(TARS1):c.680T>C (p.Leu227Pro)	Trichothiodystrophy 7, nonphotosensitive [RCV000850113]	pathogenic	5	33455691	33455691	Human	1	name
126743147	CV1019138	single nucleotide variant	NM_025150.5(TARS2):c.1207G>A (p.Ala403Thr)	Combined oxidative phosphorylation defect type 21 [RCV001336698]	uncertain significance	1	150497716	150497716	Human	1	name
126909162	CV1053056	single nucleotide variant	NM_025150.5(TARS2):c.1036C>T (p.Arg346Cys)	Combined oxidative phosphorylation defect type 21 [RCV003315448]\|Neurodevelopmental disorder [RCV001375012]	likely pathogenic\|uncertain significance	1	150497545	150497545	Human	2	name
127287540	CV1163106	single nucleotide variant	NM_025150.5(TARS2):c.1274A>G (p.Glu425Gly)	Combined oxidative phosphorylation defect type 21 [RCV001527459]	pathogenic\|likely pathogenic	1	150498537	150498537	Human	1	name
127287542	CV1163107	single nucleotide variant	NM_025150.5(TARS2):c.1285C>T (p.Arg429Ter)	Combined oxidative phosphorylation defect type 21 [RCV001527460]\|not provided [RCV002568859]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	150498548	150498548	Human	1	name
127287544	CV1163108	single nucleotide variant	NM_025150.5(TARS2):c.1678G>C (p.Asp560His)	Combined oxidative phosphorylation defect type 21 [RCV001527461]\|not provided [RCV004797948]	likely pathogenic	1	150504395	150504395	Human	1	name
127287547	CV1163109	single nucleotide variant	NM_025150.5(TARS2):c.1838C>T (p.Pro613Leu)	Combined oxidative phosphorylation defect type 21 [RCV001527462]	pathogenic\|likely pathogenic\|uncertain significance	1	150504923	150504923	Human	1	name
151662650	CV1333358	single nucleotide variant	NM_025150.5(TARS2):c.2143G>A (p.Glu715Lys)	Combined oxidative phosphorylation defect type 21 [RCV001837555]	pathogenic\|likely pathogenic	1	150507050	150507050	Human	1	name
151778638	CV1337981	single nucleotide variant	NM_025150.5(TARS2):c.2047A>G (p.Ile683Val)	not provided [RCV001930219]	uncertain significance	1	150506954	150506954	Human		name
151862629	CV1338760	single nucleotide variant	NM_025150.5(TARS2):c.1768G>A (p.Gly590Ser)	Inborn genetic diseases [RCV004671562]\|not provided [RCV001997332]	uncertain significance	1	150504681	150504681	Human	1	name
151758593	CV1340558	single nucleotide variant	NM_025150.5(TARS2):c.2060A>T (p.Asp687Val)	not provided [RCV001913717]	uncertain significance	1	150506967	150506967	Human		name
151752954	CV1363700	single nucleotide variant	NM_025150.5(TARS2):c.1139C>A (p.Pro380His)	not provided [RCV001872450]	uncertain significance	1	150497648	150497648	Human		name
151742244	CV1390837	single nucleotide variant	NM_025150.5(TARS2):c.1298T>G (p.Phe433Cys)	not provided [RCV001985348]	uncertain significance	1	150498561	150498561	Human		name
151715629	CV1392777	single nucleotide variant	NM_025150.5(TARS2):c.2126C>T (p.Thr709Met)	not provided [RCV001908910]	uncertain significance	1	150507033	150507033	Human		name
151712125	CV1396850	single nucleotide variant	NM_025150.5(TARS2):c.1489C>T (p.Arg497Trp)	Inborn genetic diseases [RCV003166971]\|not provided [RCV001889604]	uncertain significance	1	150498984	150498984	Human	1	name
151803027	CV1405156	single nucleotide variant	NM_025150.5(TARS2):c.1636G>A (p.Asp546Asn)	not provided [RCV001932484]	uncertain significance	1	150504353	150504353	Human		name
151847165	CV1409468	single nucleotide variant	NM_025150.5(TARS2):c.1804A>C (p.Ser602Arg)	not provided [RCV001882105]	uncertain significance	1	150504717	150504717	Human		name
151810356	CV1417336	single nucleotide variant	NM_025150.5(TARS2):c.1840T>C (p.Phe614Leu)	not provided [RCV002028912]	uncertain significance	1	150504925	150504925	Human		name
151744764	CV1473296	single nucleotide variant	NM_025150.5(TARS2):c.1249G>A (p.Ala417Thr)	not provided [RCV001912293]	uncertain significance	1	150498512	150498512	Human		name
151879548	CV1490880	single nucleotide variant	NM_025150.5(TARS2):c.1439G>A (p.Arg480His)	not provided [RCV001940820]	uncertain significance	1	150498934	150498934	Human		name
155803151	CV1857965	single nucleotide variant	NM_025150.5(TARS2):c.1909C>T (p.Arg637Trp)	not provided [RCV002461815]	uncertain significance	1	150505606	150505606	Human		name
155799858	CV1862660	single nucleotide variant	NM_025150.5(TARS2):c.1312C>G (p.Arg438Gly)	Combined oxidative phosphorylation defect type 21 [RCV002472067]\|Inborn genetic diseases [RCV003250507]	uncertain significance	1	150498575	150498575	Human	2	name
156398760	CV1897293	single nucleotide variant	NM_025150.5(TARS2):c.1976G>A (p.Arg659Gln)	Inborn genetic diseases [RCV005288912]\|not provided [RCV002584644]	uncertain significance	1	150505673	150505673	Human	1	name
156028501	CV1905063	single nucleotide variant	NM_025150.5(TARS2):c.1534G>A (p.Glu512Lys)	Combined oxidative phosphorylation defect type 21 [RCV003315458]\|not provided [RCV002795948]	uncertain significance	1	150499029	150499029	Human	1	name
156211358	CV1955774	single nucleotide variant	NM_025150.5(TARS2):c.1045T>G (p.Ser349Ala)	not provided [RCV002575167]	uncertain significance	1	150497554	150497554	Human		name
156262175	CV1960701	single nucleotide variant	NM_025150.5(TARS2):c.1444G>A (p.Val482Ile)	not provided [RCV002576883]	uncertain significance	1	150498939	150498939	Human		name
156322860	CV1976288	single nucleotide variant	NM_025150.5(TARS2):c.1094C>A (p.Ser365Ter)	not provided [RCV002600345]	uncertain significance	1	150497603	150497603	Human		name
156345835	CV1995204	single nucleotide variant	NM_025150.5(TARS2):c.2110G>C (p.Val704Leu)	Inborn genetic diseases [RCV002650568]\|not provided [RCV002650569]	likely benign\|uncertain significance	1	150507017	150507017	Human	1	name
156215047	CV1997389	single nucleotide variant	NM_025150.5(TARS2):c.1580A>C (p.Asp527Ala)	Inborn genetic diseases [RCV004066711]\|not provided [RCV002666996]	uncertain significance	1	150499256	150499256	Human	1	name
155945008	CV1999304	single nucleotide variant	NM_025150.5(TARS2):c.2066G>A (p.Arg689His)	not provided [RCV002685692]	uncertain significance	1	150506973	150506973	Human		name
156124748	CV2021200	single nucleotide variant	NM_025150.5(TARS2):c.1739G>A (p.Arg580His)	not provided [RCV002740335]	uncertain significance	1	150504652	150504652	Human		name
401723201	CV2049062	single nucleotide variant	NM_025150.5(TARS2):c.1630C>T (p.Leu544Phe)	Combined oxidative phosphorylation defect type 21 [RCV003315456]	uncertain significance	1	150504347	150504347	Human	1	name
401723203	CV2049063	single nucleotide variant	NM_025150.5(TARS2):c.2051G>A (p.Arg684Gln)	Combined oxidative phosphorylation defect type 21 [RCV003315457]	pathogenic\|likely pathogenic	1	150506958	150506958	Human	1	name
401723211	CV2049066	single nucleotide variant	NM_025150.5(TARS2):c.1318G>A (p.Glu440Lys)	Combined oxidative phosphorylation defect type 21 [RCV003315461]	likely pathogenic	1	150498581	150498581	Human	1	name
401723218	CV2049068	single nucleotide variant	NM_025150.5(TARS2):c.1255C>T (p.Arg419Trp)	Combined oxidative phosphorylation defect type 21 [RCV003315463]	likely pathogenic	1	150498518	150498518	Human	1	name
243056317	CV2049069	single nucleotide variant	NM_025150.5(TARS2):c.1026G>C (p.Glu342Asp)	Combined oxidative phosphorylation defect type 21 [RCV003138358]	uncertain significance	1	150497535	150497535	Human	1	name
156039346	CV2121349	single nucleotide variant	NM_025150.5(TARS2):c.1313G>A (p.Arg438Gln)	not provided [RCV002923851]	uncertain significance	1	150498576	150498576	Human		name
156316933	CV2169297	single nucleotide variant	NM_025150.5(TARS2):c.1144G>C (p.Gly382Arg)	not provided [RCV003028917]	uncertain significance	1	150497653	150497653	Human		name
155958680	CV2172917	single nucleotide variant	NM_025150.5(TARS2):c.1192A>G (p.Ile398Val)	not provided [RCV003032829]	uncertain significance	1	150497701	150497701	Human		name
156322366	CV2182858	single nucleotide variant	NM_025150.5(TARS2):c.2079G>C (p.Glu693Asp)	not provided [RCV003046699]	uncertain significance	1	150506986	150506986	Human		name
156244625	CV2231619	single nucleotide variant	NM_025150.5(TARS2):c.1688T>C (p.Leu563Pro)	Inborn genetic diseases [RCV002713599]	uncertain significance	1	150504405	150504405	Human	1	name
156201695	CV2234406	single nucleotide variant	NM_025150.5(TARS2):c.1418A>G (p.Gln473Arg)	Inborn genetic diseases [RCV002743482]	likely benign	1	150498913	150498913	Human	1	name
156132466	CV2235319	single nucleotide variant	NM_025150.5(TARS2):c.1462T>C (p.Phe488Leu)	Inborn genetic diseases [RCV002763024]	uncertain significance	1	150498957	150498957	Human	1	name
156448846	CV2402266	single nucleotide variant	NM_025150.5(TARS2):c.2053A>G (p.Thr685Ala)	not provided [RCV003120425]	uncertain significance	1	150506960	150506960	Human		name
243053698	CV2416377	single nucleotide variant	NM_025150.5(TARS2):c.1375G>A (p.Ala459Thr)	not provided [RCV003149438]	uncertain significance	1	150498638	150498638	Human		name
329371129	CV2431876	single nucleotide variant	NM_152295.5(TARS1):c.2096G>A (p.Arg699His)	not specified [RCV004255013]	uncertain significance	5	33467632	33467632	Human		name
329372274	CV2443086	single nucleotide variant	NM_152334.3(TARS3):c.2065G>A (p.Gly689Arg)	not specified [RCV004253672]	uncertain significance	15	101661719	101661719	Human		name
329354961	CV2449185	single nucleotide variant	NM_152334.3(TARS3):c.1345A>C (p.Thr449Pro)	not specified [RCV004264242]	uncertain significance	15	101686038	101686038	Human		name
329361958	CV2456584	single nucleotide variant	NM_152334.3(TARS3):c.1507C>T (p.Pro503Ser)	not specified [RCV004277782]	uncertain significance	15	101684218	101684218	Human		name
329395085	CV2457852	single nucleotide variant	NM_152295.5(TARS1):c.1255A>G (p.Met419Val)	not specified [RCV004269662]	uncertain significance	5	33460906	33460906	Human		name
329398059	CV2466594	single nucleotide variant	NM_152295.5(TARS1):c.1913G>T (p.Arg638Leu)	not specified [RCV004274122]	uncertain significance	5	33466875	33466875	Human		name
329389313	CV2467264	single nucleotide variant	NM_025150.5(TARS2):c.1132G>A (p.Val378Met)	Inborn genetic diseases [RCV003216216]	uncertain significance	1	150497641	150497641	Human	1	name
329848166	CV2667785	single nucleotide variant	NM_025150.5(TARS2):c.1301G>A (p.Gly434Glu)	not provided [RCV003229352]	uncertain significance	1	150498564	150498564	Human		name
401727604	CV2678388	single nucleotide variant	NM_152295.5(TARS1):c.2089G>A (p.Gly697Arg)	not specified [RCV004292416]	uncertain significance	5	33467625	33467625	Human		name
401745777	CV2678704	single nucleotide variant	NM_152334.3(TARS3):c.1301C>T (p.Thr434Met)	not specified [RCV004292705]	uncertain significance	15	101701105	101701105	Human		name
401731806	CV2690145	single nucleotide variant	NM_152295.5(TARS1):c.1358C>T (p.Thr453Ile)	not specified [RCV004300375]	uncertain significance	5	33461009	33461009	Human		name
401746142	CV2694800	single nucleotide variant	NM_152295.5(TARS1):c.1136A>G (p.Asn379Ser)	not provided [RCV004696439]\|not specified [RCV004298880]	uncertain significance	5	33459747	33459747	Human		name
401744144	CV2696944	single nucleotide variant	NM_152334.3(TARS3):c.1021A>G (p.Lys341Glu)	not specified [RCV004292939]	uncertain significance	15	101703912	101703912	Human		name
401726094	CV2699081	single nucleotide variant	NM_025150.5(TARS2):c.1080G>T (p.Lys360Asn)	Inborn genetic diseases [RCV003246210]	uncertain significance	1	150497589	150497589	Human	1	name
401734796	CV2706541	single nucleotide variant	NM_152334.3(TARS3):c.2350A>G (p.Ile784Val)	not specified [RCV004317348]	uncertain significance	15	101654641	101654641	Human		name
401775365	CV2710539	single nucleotide variant	NM_152334.3(TARS3):c.2380C>G (p.Arg794Gly)	not specified [RCV004319464]	uncertain significance	15	101654611	101654611	Human		name
401730977	CV2711599	single nucleotide variant	NM_025150.5(TARS2):c.1525G>T (p.Asp509Tyr)	Inborn genetic diseases [RCV003271571]	uncertain significance	1	150499020	150499020	Human	1	name
401870751	CV2749408	single nucleotide variant	NM_025150.5(TARS2):c.1175A>T (p.Asp392Val)	not provided [RCV003332536]	uncertain significance	1	150497684	150497684	Human		name
401895114	CV2792709	single nucleotide variant	NM_152295.5(TARS1):c.1208A>G (p.Lys403Arg)	not specified [RCV004365483]	uncertain significance	5	33459819	33459819	Human		name
401872358	CV2793077	single nucleotide variant	NM_152295.5(TARS1):c.1970C>T (p.Thr657Ile)	not specified [RCV004360403]	uncertain significance	5	33466932	33466932	Human		name
405246292	CV3162279	single nucleotide variant	NM_025150.5(TARS2):c.2030G>A (p.Ser677Asn)	not provided [RCV003868798]	uncertain significance	1	150506937	150506937	Human		name
405764291	CV3327926	single nucleotide variant	NM_152295.5(TARS1):c.1028G>C (p.Cys343Ser)	not specified [RCV004469170]	uncertain significance	5	33458609	33458609	Human		name
405764297	CV3327927	single nucleotide variant	NM_152295.5(TARS1):c.1114G>A (p.Val372Ile)	not specified [RCV004469171]	uncertain significance	5	33459725	33459725	Human		name
405764303	CV3327928	single nucleotide variant	NM_152295.5(TARS1):c.1115T>C (p.Val372Ala)	not specified [RCV004469172]	uncertain significance	5	33459726	33459726	Human		name
405764309	CV3327929	single nucleotide variant	NM_152295.5(TARS1):c.1178G>A (p.Ser393Asn)	not specified [RCV004469173]	uncertain significance	5	33459789	33459789	Human		name
405764316	CV3327930	single nucleotide variant	NM_152295.5(TARS1):c.1180G>A (p.Glu394Lys)	not specified [RCV004469174]	uncertain significance	5	33459791	33459791	Human		name
405764332	CV3327932	single nucleotide variant	NM_152295.5(TARS1):c.1262A>G (p.Asp421Gly)	not specified [RCV004469176]	uncertain significance	5	33460913	33460913	Human		name
405764338	CV3327933	single nucleotide variant	NM_152295.5(TARS1):c.1271C>G (p.Pro424Arg)	not specified [RCV004469177]	uncertain significance	5	33460922	33460922	Human		name
405764344	CV3327934	single nucleotide variant	NM_152295.5(TARS1):c.1291C>T (p.Pro431Ser)	not specified [RCV004469178]	uncertain significance	5	33460942	33460942	Human		name
405764350	CV3327935	single nucleotide variant	NM_152295.5(TARS1):c.1304C>A (p.Ala435Asp)	not specified [RCV004469179]	uncertain significance	5	33460955	33460955	Human		name
405764356	CV3327936	single nucleotide variant	NM_152295.5(TARS1):c.1309T>G (p.Phe437Val)	not specified [RCV004469180]	uncertain significance	5	33460960	33460960	Human		name
405764371	CV3327938	single nucleotide variant	NM_152295.5(TARS1):c.1501C>T (p.Arg501Cys)	not specified [RCV004469182]	uncertain significance	5	33461245	33461245	Human		name
405764382	CV3327940	single nucleotide variant	NM_152295.5(TARS1):c.1652C>T (p.Ala551Val)	not specified [RCV004469184]	uncertain significance	5	33461928	33461928	Human		name
405764388	CV3327941	single nucleotide variant	NM_152295.5(TARS1):c.1708A>G (p.Arg570Gly)	not specified [RCV004469185]	uncertain significance	5	33461984	33461984	Human		name
405764394	CV3327942	single nucleotide variant	NM_152295.5(TARS1):c.1893T>A (p.Asp631Glu)	not specified [RCV004469186]	uncertain significance	5	33463810	33463810	Human		name
405764402	CV3327943	single nucleotide variant	NM_152295.5(TARS1):c.2006A>C (p.Gln669Pro)	not specified [RCV004469187]	uncertain significance	5	33466968	33466968	Human		name
405764408	CV3327944	single nucleotide variant	NM_152295.5(TARS1):c.2078A>G (p.Asn693Ser)	not specified [RCV004469188]	uncertain significance	5	33467614	33467614	Human		name
405764414	CV3327945	single nucleotide variant	NM_152295.5(TARS1):c.2095C>T (p.Arg699Cys)	not specified [RCV004469189]	uncertain significance	5	33467631	33467631	Human		name
405764421	CV3327946	single nucleotide variant	NM_152295.5(TARS1):c.2102T>C (p.Ile701Thr)	not specified [RCV004469190]	uncertain significance	5	33467638	33467638	Human		name
405764428	CV3327947	single nucleotide variant	NM_152295.5(TARS1):c.2104T>C (p.Ser702Pro)	not specified [RCV004469191]	uncertain significance	5	33467640	33467640	Human		name
405764434	CV3327948	single nucleotide variant	NM_152295.5(TARS1):c.2144G>A (p.Arg715His)	not specified [RCV004469192]	uncertain significance	5	33467680	33467680	Human		name
405764517	CV3327961	single nucleotide variant	NM_025150.5(TARS2):c.1168C>A (p.Gln390Lys)	Inborn genetic diseases [RCV004469205]	uncertain significance	1	150497677	150497677	Human	1	name
405764526	CV3327962	single nucleotide variant	NM_025150.5(TARS2):c.2065C>T (p.Arg689Cys)	Inborn genetic diseases [RCV004469206]	uncertain significance	1	150506972	150506972	Human	1	name
405764547	CV3327965	single nucleotide variant	NM_152334.3(TARS3):c.1025G>A (p.Gly342Asp)	not specified [RCV004469209]	uncertain significance	15	101703908	101703908	Human		name
405764553	CV3327966	single nucleotide variant	NM_152334.3(TARS3):c.1051A>G (p.Ile351Val)	not specified [RCV004469210]	uncertain significance	15	101703882	101703882	Human		name
405764559	CV3327967	single nucleotide variant	NM_152334.3(TARS3):c.1103C>T (p.Pro368Leu)	not specified [RCV004469211]	uncertain significance	15	101702357	101702357	Human		name
405764565	CV3327968	single nucleotide variant	NM_152334.3(TARS3):c.1286C>G (p.Ala429Gly)	not specified [RCV004469212]	uncertain significance	15	101701120	101701120	Human		name
405764577	CV3327970	single nucleotide variant	NM_152334.3(TARS3):c.1346C>T (p.Thr449Met)	not specified [RCV004469214]	uncertain significance	15	101686037	101686037	Human		name
405764594	CV3327973	single nucleotide variant	NM_152334.3(TARS3):c.1390G>C (p.Ala464Pro)	not specified [RCV004469217]	uncertain significance	15	101685993	101685993	Human		name
405764599	CV3327974	single nucleotide variant	NM_152334.3(TARS3):c.1454T>C (p.Phe485Ser)	not specified [RCV004469218]	uncertain significance	15	101685929	101685929	Human		name
405764612	CV3327976	single nucleotide variant	NM_152334.3(TARS3):c.1497T>A (p.Phe499Leu)	not specified [RCV004469220]	uncertain significance	15	101684228	101684228	Human		name
405764618	CV3327977	single nucleotide variant	NM_152334.3(TARS3):c.1505G>A (p.Arg502His)	not specified [RCV004469221]	uncertain significance	15	101684220	101684220	Human		name
405764624	CV3327978	single nucleotide variant	NM_152334.3(TARS3):c.1565A>G (p.Asn522Ser)	not specified [RCV004469222]	uncertain significance	15	101684160	101684160	Human		name
405764630	CV3327979	single nucleotide variant	NM_152334.3(TARS3):c.1606C>T (p.Arg536Cys)	not specified [RCV004469223]	uncertain significance	15	101684119	101684119	Human		name
405764635	CV3327980	single nucleotide variant	NM_152334.3(TARS3):c.1759G>A (p.Glu587Lys)	not specified [RCV004469224]	uncertain significance	15	101675629	101675629	Human		name
405764642	CV3327981	single nucleotide variant	NM_152334.3(TARS3):c.1905T>G (p.His635Gln)	not specified [RCV004469225]	uncertain significance	15	101671548	101671548	Human		name
405764649	CV3327982	single nucleotide variant	NM_152334.3(TARS3):c.2011G>A (p.Ala671Thr)	not specified [RCV004469226]	uncertain significance	15	101661773	101661773	Human		name
405764653	CV3327983	single nucleotide variant	NM_152334.3(TARS3):c.2093G>A (p.Arg698His)	not specified [RCV004469227]	uncertain significance	15	101657837	101657837	Human		name
405764658	CV3327984	single nucleotide variant	NM_152334.3(TARS3):c.2095C>A (p.Gln699Lys)	not specified [RCV004469228]	uncertain significance	15	101657835	101657835	Human		name
405764666	CV3327985	single nucleotide variant	NM_152334.3(TARS3):c.2152A>G (p.Ser718Gly)	not specified [RCV004469229]	uncertain significance	15	101657030	101657030	Human		name
405764673	CV3327986	single nucleotide variant	NM_152334.3(TARS3):c.2153G>A (p.Ser718Asn)	not specified [RCV004469230]	uncertain significance	15	101657029	101657029	Human		name
405764679	CV3327987	single nucleotide variant	NM_152334.3(TARS3):c.2206A>G (p.Thr736Ala)	not specified [RCV004469231]	uncertain significance	15	101656976	101656976	Human		name
405764686	CV3327988	single nucleotide variant	NM_152334.3(TARS3):c.2221A>C (p.Ile741Leu)	not specified [RCV004469232]	uncertain significance	15	101656961	101656961	Human		name
405764692	CV3327989	single nucleotide variant	NM_152334.3(TARS3):c.2227A>T (p.Asn743Tyr)	not specified [RCV004469233]	uncertain significance	15	101656955	101656955	Human		name
405764698	CV3327990	single nucleotide variant	NM_152334.3(TARS3):c.2245T>C (p.Tyr749His)	not specified [RCV004469234]	uncertain significance	15	101656937	101656937	Human		name
405764704	CV3327991	single nucleotide variant	NM_152334.3(TARS3):c.2264T>C (p.Val755Ala)	not specified [RCV004469235]	uncertain significance	15	101654727	101654727	Human		name
405764716	CV3327993	single nucleotide variant	NM_152334.3(TARS3):c.2303G>A (p.Arg768Gln)	not specified [RCV004469237]	uncertain significance	15	101654688	101654688	Human		name
407530522	CV3475240	single nucleotide variant	NM_152295.5(TARS1):c.1504C>T (p.Pro502Ser)	not specified [RCV004681953]	uncertain significance	5	33461248	33461248	Human		name
407511768	CV3475242	single nucleotide variant	NM_025150.5(TARS2):c.1075A>G (p.Thr359Ala)	Inborn genetic diseases [RCV004673221]	uncertain significance	1	150497584	150497584	Human	1	name
407511773	CV3475244	single nucleotide variant	NM_152334.3(TARS3):c.1091G>T (p.Trp364Leu)	not specified [RCV004673223]	uncertain significance	15	101702369	101702369	Human		name
407511776	CV3475245	single nucleotide variant	NM_152334.3(TARS3):c.1524A>C (p.Glu508Asp)	not specified [RCV004673224]	uncertain significance	15	101684201	101684201	Human		name
407530524	CV3475247	single nucleotide variant	NM_152334.3(TARS3):c.1721A>G (p.Gln574Arg)	not specified [RCV004681954]	uncertain significance	15	101675667	101675667	Human		name
407511785	CV3475249	single nucleotide variant	NM_152334.3(TARS3):c.1156A>G (p.Met386Val)	not specified [RCV004673227]	uncertain significance	15	101702304	101702304	Human		name
407511789	CV3475250	single nucleotide variant	NM_152334.3(TARS3):c.2009G>A (p.Arg670Gln)	not specified [RCV004673228]	uncertain significance	15	101661775	101661775	Human		name
408383499	CV3518445	single nucleotide variant	NM_025150.5(TARS2):c.1900C>T (p.Gln634Ter)	Combined oxidative phosphorylation defect type 21 [RCV004759769]	likely pathogenic	1	150505597	150505597	Human	1	name
408393199	CV3528392	single nucleotide variant	NM_025150.5(TARS2):c.2069G>A (p.Arg690His)	not provided [RCV004776160]	uncertain significance	1	150506976	150506976	Human		name
596925834	CV3530598	single nucleotide variant	NM_025150.5(TARS2):c.1922T>C (p.Leu641Pro)	not provided [RCV004778183]	uncertain significance	1	150505619	150505619	Human		name
596928815	CV3540571	single nucleotide variant	NM_025150.5(TARS2):c.1565T>C (p.Phe522Ser)	Inborn genetic diseases [RCV005291123]\|not provided [RCV004794899]	uncertain significance	1	150499241	150499241	Human	1	name
597749383	CV3612429	single nucleotide variant	NM_152295.5(TARS1):c.1114G>T (p.Val372Leu)	not specified [RCV004866449]	uncertain significance	5	33459725	33459725	Human		name
597749393	CV3612431	single nucleotide variant	NM_152295.5(TARS1):c.1703C>T (p.Pro568Leu)	not specified [RCV004866451]	uncertain significance	5	33461979	33461979	Human		name
597749408	CV3612434	single nucleotide variant	NM_152295.5(TARS1):c.1938C>A (p.Phe646Leu)	not specified [RCV004866454]	uncertain significance	5	33466900	33466900	Human		name
597749414	CV3612435	single nucleotide variant	NM_152295.5(TARS1):c.1733A>G (p.His578Arg)	not specified [RCV004866455]	uncertain significance	5	33462101	33462101	Human		name
597634372	CV3612436	single nucleotide variant	NM_025150.5(TARS2):c.1757G>A (p.Arg586Gln)	Inborn genetic diseases [RCV004969319]	uncertain significance	1	150504670	150504670	Human	1	name
597749430	CV3612440	single nucleotide variant	NM_152334.3(TARS3):c.2012C>T (p.Ala671Val)	not specified [RCV004866458]	uncertain significance	15	101661772	101661772	Human		name
597749436	CV3612441	single nucleotide variant	NM_152334.3(TARS3):c.1331A>G (p.His444Arg)	not specified [RCV004866459]	uncertain significance	15	101686052	101686052	Human		name
597749451	CV3612444	single nucleotide variant	NM_152334.3(TARS3):c.1915A>G (p.Thr639Ala)	not specified [RCV004866462]	uncertain significance	15	101671538	101671538	Human		name
597749456	CV3612445	single nucleotide variant	NM_152334.3(TARS3):c.1298A>G (p.Asn433Ser)	not specified [RCV004866463]	uncertain significance	15	101701108	101701108	Human		name
597749462	CV3612446	single nucleotide variant	NM_152334.3(TARS3):c.2111C>T (p.Pro704Leu)	not specified [RCV004866464]	uncertain significance	15	101657819	101657819	Human		name
597749473	CV3612449	single nucleotide variant	NM_152334.3(TARS3):c.1360C>G (p.Pro454Ala)	not specified [RCV004866466]	uncertain significance	15	101686023	101686023	Human		name
597749479	CV3612450	single nucleotide variant	NM_152334.3(TARS3):c.1272C>G (p.Phe424Leu)	not specified [RCV004866467]	uncertain significance	15	101701134	101701134	Human		name
597749484	CV3612452	single nucleotide variant	NM_152334.3(TARS3):c.2126G>A (p.Cys709Tyr)	not specified [RCV004866468]	uncertain significance	15	101657804	101657804	Human		name
12842086	CV364443	single nucleotide variant	NM_025150.5(TARS2):c.1453G>A (p.Val485Ile)	not provided [RCV000676946]	benign\|likely benign	1	150498948	150498948	Human		name
12833663	CV364463	single nucleotide variant	NM_025150.5(TARS2):c.1034A>G (p.His345Arg)	not provided [RCV000514290]	benign\|likely benign	1	150497543	150497543	Human		name
597721288	CV3718825	single nucleotide variant	NM_025150.5(TARS2):c.1578G>A (p.Trp526Ter)	Combined oxidative phosphorylation defect type 21 [RCV005035761]\|not provided [RCV005105249]	uncertain significance	1	150499254	150499254	Human	1	name
598126221	CV3886143	single nucleotide variant	NM_025150.5(TARS2):c.1885G>A (p.Ala629Thr)	not provided [RCV005241946]	uncertain significance	1	150504970	150504970	Human		name
598194615	CV3920174	single nucleotide variant	NM_152295.5(TARS1):c.2116G>A (p.Glu706Lys)	not specified [RCV005289101]	uncertain significance	5	33467652	33467652	Human		name
598194634	CV3920179	single nucleotide variant	NM_152295.5(TARS1):c.1367G>A (p.Arg456Gln)	not specified [RCV005289104]	uncertain significance	5	33461018	33461018	Human		name
598194640	CV3920181	single nucleotide variant	NM_152295.5(TARS1):c.2165A>T (p.Glu722Val)	not specified [RCV005289105]	uncertain significance	5	33467701	33467701	Human		name
598194647	CV3920182	single nucleotide variant	NM_152295.5(TARS1):c.1723T>C (p.Tyr575His)	not specified [RCV005289106]	uncertain significance	5	33461999	33461999	Human		name
598194668	CV3920185	single nucleotide variant	NM_152295.5(TARS1):c.1724A>C (p.Tyr575Ser)	not specified [RCV005289109]	uncertain significance	5	33462000	33462000	Human		name
598194690	CV3920191	single nucleotide variant	NM_025150.5(TARS2):c.1510G>T (p.Asp504Tyr)	Inborn genetic diseases [RCV005289114]	uncertain significance	1	150499005	150499005	Human	1	name
598194711	CV3920196	single nucleotide variant	NM_152334.3(TARS3):c.1212G>T (p.Lys404Asn)	not specified [RCV005289119]	uncertain significance	15	101702248	101702248	Human		name
598194721	CV3920198	single nucleotide variant	NM_152334.3(TARS3):c.1289T>C (p.Phe430Ser)	not specified [RCV005289121]	uncertain significance	15	101701117	101701117	Human		name
598194733	CV3920200	single nucleotide variant	NM_152334.3(TARS3):c.1776T>A (p.Asn592Lys)	not specified [RCV005289123]	uncertain significance	15	101675612	101675612	Human		name
598194744	CV3920202	single nucleotide variant	NM_152334.3(TARS3):c.1511G>A (p.Arg504Gln)	not specified [RCV005289125]	uncertain significance	15	101684214	101684214	Human		name
12905892	CV413248	single nucleotide variant	NM_025150.5(TARS2):c.2140G>A (p.Ala714Thr)	Combined oxidative phosphorylation defect type 21 [RCV003315433]\|not provided [RCV000488143]	pathogenic\|likely pathogenic\|uncertain significance	1	150507047	150507047	Human	1	name
13211870	CV425307	single nucleotide variant	NM_025150.5(TARS2):c.1756C>T (p.Arg586Ter)	not provided [RCV000498022]	likely pathogenic	1	150504669	150504669	Human		name
14976038	CV676989	single nucleotide variant	NM_152295.5(TARS1):c.1912C>T (p.Arg638Ter)	Trichothiodystrophy 7, nonphotosensitive [RCV000850111]	pathogenic	5	33466874	33466874	Human	1	name
15168319	CV731699	single nucleotide variant	NM_025150.5(TARS2):c.1472G>A (p.Arg491His)	not provided [RCV000904828]	likely benign	1	150498967	150498967	Human		name
28877266	CV858842	single nucleotide variant	NM_025150.5(TARS2):c.1354C>T (p.Arg452Trp)	Combined oxidative phosphorylation defect type 21 [RCV001336699]\|not provided [RCV001090401]	conflicting interpretations of pathogenicity\|uncertain significance	1	150498617	150498617	Human	1	name
151750991	CV1359189	microsatellite	NM_025150.5(TARS2):c.511_512del (p.Arg171fs)	not provided [RCV001969186]	uncertain significance	1	150490721	150490722	Human		name
151844907	CV1363525	single nucleotide variant	NM_005461.5(MAFB):c.617G>A (p.Ser206Asn)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV002479836]\|not provided [RCV002032271]	uncertain significance	20	40688234	40688234	Human	1	trait , alternate_id
151749355	CV1380893	single nucleotide variant	NM_005461.5(MAFB):c.577C>T (p.His193Tyr)	Inborn genetic diseases [RCV004046759]\|Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV002486701]\|not provided [RCV002023213]	uncertain significance	20	40688274	40688274	Human	2	trait , alternate_id
151833445	CV1432480	single nucleotide variant	NM_005461.5(MAFB):c.457G>C (p.Asp153His)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV002497943]\|not provided [RCV001993934]	uncertain significance	20	40688394	40688394	Human	1	trait , alternate_id
152160975	CV1555227	single nucleotide variant	NM_005461.5(MAFB):c.294G>C (p.Glu98Asp)	Inborn genetic diseases [RCV003015298]\|MAFB-related disorder [RCV003951051]\|Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV002499959]\|not provided [RCV002103788]	likely benign\|uncertain significance	20	40688557	40688557	Human	3	trait , alternate_id
152172210	CV1575761	single nucleotide variant	NM_005461.5(MAFB):c.542A>T (p.Gln181Leu)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV002500388]\|not provided [RCV002183765]	benign\|likely benign	20	40688309	40688309	Human	1	trait , alternate_id
156101808	CV2001124	single nucleotide variant	NM_005461.5(MAFB):c.227C>A (p.Thr76Asn)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005034354]\|not provided [RCV002639610]	uncertain significance	20	40688624	40688624	Human	1	trait , alternate_id
156100418	CV2132256	single nucleotide variant	NM_005461.5(MAFB):c.886G>A (p.Val296Ile)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005028101]\|not provided [RCV003002191]	uncertain significance	20	40687965	40687965	Human	1	trait , alternate_id
329846336	CV2524652	single nucleotide variant	NM_005461.5(MAFB):c.203C>T (p.Pro68Leu)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV003227584]	likely pathogenic	20	40688648	40688648	Human	1	trait , alternate_id
401765951	CV2717948	single nucleotide variant	NM_005461.5(MAFB):c.863C>T (p.Ala288Val)	Inborn genetic diseases [RCV003282413]\|Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005029965]\|not provided [RCV003777064]	uncertain significance	20	40687988	40687988	Human	2	trait , alternate_id
405214209	CV3078401	single nucleotide variant	NM_005461.5(MAFB):c.340T>C (p.Ser114Pro)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005037016]\|not provided [RCV003732420]	likely benign\|uncertain significance	20	40688511	40688511	Human	1	trait , alternate_id
405220015	CV3154348	single nucleotide variant	NM_005461.5(MAFB):c.405T>A (p.His135Gln)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005030321]\|not provided [RCV003847040]	uncertain significance	20	40688446	40688446	Human	1	trait , alternate_id
11616215	CV335393	single nucleotide variant	NM_005461.5(MAFB):c.*2008T>A	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000292875]\|not provided [RCV004718531]	benign	20	40685871	40685871	Human	1	trait , alternate_id
11625615	CV335394	single nucleotide variant	NM_005461.5(MAFB):c.*1737A>G	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000401307]	benign\|likely benign	20	40686142	40686142	Human	1	trait , alternate_id
11648413	CV335400	single nucleotide variant	NM_005461.5(MAFB):c.*1679C>T	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000281836]	uncertain significance	20	40686200	40686200	Human	1	trait , alternate_id
11617777	CV335405	single nucleotide variant	NM_005461.5(MAFB):c.*1519C>G	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000307525]	likely benign\|uncertain significance	20	40686360	40686360	Human	1	trait , alternate_id
11647656	CV335406	insertion	NM_005461.5(MAFB):c.1212_1213insGAGGA	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000277776]	uncertain significance	20	40686666	40686667	Human	1	trait , alternate_id
11618692	CV335408	single nucleotide variant	NM_005461.5(MAFB):c.*1210G>A	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000316762]	likely benign\|uncertain significance	20	40686669	40686669	Human	1	trait , alternate_id
11623513	CV335416	single nucleotide variant	NM_005461.5(MAFB):c.*1019A>G	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000373690]	benign\|likely benign	20	40686860	40686860	Human	1	trait , alternate_id
11619000	CV335418	duplication	NM_005461.5(MAFB):c.*929dup	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000320136]	benign	20	40686949	40686950	Human	1	trait , alternate_id
11660422	CV335423	single nucleotide variant	NM_005461.5(MAFB):c.*209A>C	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000367021]	uncertain significance	20	40687670	40687670	Human	1	trait , alternate_id
11618375	CV335431	single nucleotide variant	NM_005461.5(MAFB):c.*152G>C	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000313393]	benign\|likely benign	20	40687727	40687727	Human	1	trait , alternate_id
11615819	CV335435	single nucleotide variant	NM_005461.5(MAFB):c.-138G>T	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000289175]	uncertain significance	20	40688988	40688988	Human	1	trait , alternate_id
11625440	CV335446	single nucleotide variant	NM_005461.5(MAFB):c.-310G>A	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000398975]	benign\|likely benign	20	40689160	40689160	Human	1	trait , alternate_id
405867356	CV3394317	single nucleotide variant	NM_005461.5(MAFB):c.176C>G (p.Pro59Arg)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV004566434]	likely pathogenic	20	40688675	40688675	Human	1	trait , alternate_id
11629793	CV345219	single nucleotide variant	NM_005461.5(MAFB):c.*1849C>T	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000333805]\|not provided [RCV004717379]	benign	20	40686030	40686030	Human	1	trait , alternate_id
11659748	CV345221	single nucleotide variant	NM_005461.5(MAFB):c.*1551G>A	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000361043]	uncertain significance	20	40686328	40686328	Human	1	trait , alternate_id
11627015	CV345223	single nucleotide variant	NM_005461.5(MAFB):c.*1314A>G	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000274366]	benign\|likely benign	20	40686565	40686565	Human	1	trait , alternate_id
11629708	CV345225	single nucleotide variant	NM_005461.5(MAFB):c.*1255C>T	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000331819]	likely benign\|uncertain significance	20	40686624	40686624	Human	1	trait , alternate_id
11648333	CV345230	single nucleotide variant	NM_005461.5(MAFB):c.*976G>A	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000281411]	uncertain significance	20	40686903	40686903	Human	1	trait , alternate_id
11661448	CV345231	deletion	NM_005461.5(MAFB):c.*929del	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000376716]	uncertain significance	20	40686950	40686950	Human	1	trait , alternate_id
11632151	CV345232	microsatellite	NM_005461.5(MAFB):c.*503TGTC[1]	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000399779]	likely benign	20	40687369	40687372	Human		trait , alternate_id
11657950	CV345233	single nucleotide variant	NM_005461.5(MAFB):c.*377G>C	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000345530]	uncertain significance	20	40687502	40687502	Human	1	trait , alternate_id
11664557	CV345234	single nucleotide variant	NM_005461.5(MAFB):c.*309A>T	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000407050]	uncertain significance	20	40687570	40687570	Human	1	trait , alternate_id
11632389	CV345236	single nucleotide variant	NM_005461.5(MAFB):c.*155C>T	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000407061]\|not provided [RCV004717380]	benign\|likely benign	20	40687724	40687724	Human	1	trait , alternate_id
11631221	CV345237	single nucleotide variant	NM_005461.5(MAFB):c.*68G>A	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000370422]\|not provided [RCV004718532]	benign\|likely benign	20	40687811	40687811	Human	1	trait , alternate_id
11644274	CV345240	single nucleotide variant	NM_005461.5(MAFB):c.*64C>T	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000259239]	uncertain significance	20	40687815	40687815	Human	1	trait , alternate_id
11630640	CV345246	single nucleotide variant	NM_005461.5(MAFB):c.745C>A (p.Arg249=)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000355314]\|not provided [RCV000960989]	benign\|likely benign	20	40688106	40688106	Human	1	trait , alternate_id
11645000	CV345247	single nucleotide variant	NM_005461.5(MAFB):c.525C>G (p.Ser175Arg)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000262870]	uncertain significance	20	40688326	40688326	Human	1	trait , alternate_id
11626569	CV345248	single nucleotide variant	NM_005461.5(MAFB):c.189G>A (p.Pro63=)	MAFB-related disorder [RCV003910315]\|Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000266628]\|not provided [RCV002057735]\|not specified [RCV005238925]	likely benign\|uncertain significance	20	40688662	40688662	Human	1	trait , alternate_id
11629442	CV345249	single nucleotide variant	NM_005461.5(MAFB):c.-75C>G	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000324089]	benign\|likely benign	20	40688925	40688925	Human	1	trait , alternate_id
11661908	CV345252	single nucleotide variant	NM_005461.5(MAFB):c.-77C>G	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000381249]\|not provided [RCV004694602]	uncertain significance	20	40688927	40688927	Human	1	trait , alternate_id
11631644	CV345253	deletion	NM_005461.5(MAFB):c.-204_-203del	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000384623]	likely benign	20	40689053	40689054	Human	1	trait , alternate_id
11658688	CV345255	single nucleotide variant	NM_005461.5(MAFB):c.-229C>T	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000351158]	uncertain significance	20	40689079	40689079	Human	1	trait , alternate_id
11656617	CV349954	single nucleotide variant	NM_005461.5(MAFB):c.*1751C>T	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000335089]	uncertain significance	20	40686128	40686128	Human	1	trait , alternate_id
11631964	CV349955	deletion	NM_005461.5(MAFB):c.*1592del	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000393820]	benign	20	40686287	40686287	Human	1	trait , alternate_id
11657144	CV349960	duplication	NM_005461.5(MAFB):c.*1592dup	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000339171]	uncertain significance	20	40686286	40686287	Human	1	trait , alternate_id
11652266	CV349961	single nucleotide variant	NM_005461.5(MAFB):c.*1591T>C	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000304098]	uncertain significance	20	40686288	40686288	Human	1	trait , alternate_id
11631938	CV349963	single nucleotide variant	NM_005461.5(MAFB):c.*1520C>G	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000393846]	likely benign	20	40686359	40686359	Human	1	trait , alternate_id
11660136	CV349964	single nucleotide variant	NM_005461.5(MAFB):c.*1433A>G	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000364500]	uncertain significance	20	40686446	40686446	Human	1	trait , alternate_id
11657507	CV349967	single nucleotide variant	NM_005461.5(MAFB):c.*795G>T	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000341955]	uncertain significance	20	40687084	40687084	Human	1	trait , alternate_id
11649543	CV349970	single nucleotide variant	NM_005461.5(MAFB):c.*410G>A	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000288179]	uncertain significance	20	40687469	40687469	Human	1	trait , alternate_id
11653360	CV349973	single nucleotide variant	NM_005461.5(MAFB):c.*229A>G	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000310629]	uncertain significance	20	40687650	40687650	Human	1	trait , alternate_id
11629177	CV349975	single nucleotide variant	NM_005461.5(MAFB):c.*30C>A	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000316781]\|not provided [RCV004703822]	likely benign\|uncertain significance	20	40687849	40687849	Human	1	trait , alternate_id
11631422	CV349978	single nucleotide variant	NM_005461.5(MAFB):c.253C>A (p.Leu85Met)	Inborn genetic diseases [RCV004984837]\|Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000377699]\|not provided [RCV001865233]	benign\|likely benign\|uncertain significance	20	40688598	40688598	Human	2	trait , alternate_id
11631775	CV350969	single nucleotide variant	NM_005461.5(MAFB):c.*1803C>T	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000388390]	uncertain significance	20	40686076	40686076	Human	1	trait , alternate_id
11627350	CV350970	single nucleotide variant	NM_005461.5(MAFB):c.*1787T>C	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000280001]	uncertain significance	20	40686092	40686092	Human	1	trait , alternate_id
11660766	CV350972	single nucleotide variant	NM_005461.5(MAFB):c.*1226C>T	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000370194]	uncertain significance	20	40686653	40686653	Human	1	trait , alternate_id
11648891	CV350974	single nucleotide variant	NM_005461.5(MAFB):c.*881G>T	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000284498]	uncertain significance	20	40686998	40686998	Human	1	trait , alternate_id
11629313	CV350976	single nucleotide variant	NM_005461.5(MAFB):c.399C>T (p.His133=)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000320690]	uncertain significance	20	40688452	40688452	Human	1	trait , alternate_id
11658063	CV350979	single nucleotide variant	NM_005461.5(MAFB):c.-171C>A	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000346334]	uncertain significance	20	40689021	40689021	Human	1	trait , alternate_id
11628021	CV350980	single nucleotide variant	NM_005461.5(MAFB):c.-206T>G	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000293944]\|not provided [RCV004703823]	likely benign	20	40689056	40689056	Human	1	trait , alternate_id
11651181	CV350984	single nucleotide variant	NM_005461.5(MAFB):c.-338A>G	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000297555]	uncertain significance	20	40689188	40689188	Human	1	trait , alternate_id
596928777	CV3540555	single nucleotide variant	NM_005461.5(MAFB):c.176C>T (p.Pro59Leu)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005038839]\|not provided [RCV004794882]	pathogenic\|likely pathogenic	20	40688675	40688675	Human	1	trait , alternate_id
597651920	CV3720744	single nucleotide variant	NM_005461.5(MAFB):c.970T>C (p.Ter324Arg)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005026938]	uncertain significance	20	40687881	40687881	Human	1	trait , alternate_id
597691219	CV3720745	single nucleotide variant	NM_005461.5(MAFB):c.961T>C (p.Phe321Leu)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005032530]	uncertain significance	20	40687890	40687890	Human	1	trait , alternate_id
597651930	CV3720747	single nucleotide variant	NM_005461.5(MAFB):c.865C>A (p.Arg289Ser)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005026939]	uncertain significance	20	40687986	40687986	Human	1	trait , alternate_id
597651939	CV3720748	single nucleotide variant	NM_005461.5(MAFB):c.847G>C (p.Glu283Gln)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005026940]	uncertain significance	20	40688004	40688004	Human	1	trait , alternate_id
597651949	CV3720749	single nucleotide variant	NM_005461.5(MAFB):c.769T>A (p.Tyr257Asn)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005026941]	uncertain significance	20	40688082	40688082	Human	1	trait , alternate_id
597651957	CV3720750	single nucleotide variant	NM_005461.5(MAFB):c.539C>A (p.Ala180Glu)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005026942]	uncertain significance	20	40688312	40688312	Human	1	trait , alternate_id
597651969	CV3720751	single nucleotide variant	NM_005461.5(MAFB):c.529G>T (p.Ala177Ser)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005026943]	uncertain significance	20	40688322	40688322	Human	1	trait , alternate_id
597651978	CV3720752	single nucleotide variant	NM_005461.5(MAFB):c.445G>A (p.Gly149Ser)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005026944]	uncertain significance	20	40688406	40688406	Human	1	trait , alternate_id
597691243	CV3720753	single nucleotide variant	NM_005461.5(MAFB):c.392A>C (p.His131Pro)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005032532]	uncertain significance	20	40688459	40688459	Human	1	trait , alternate_id
597651987	CV3720755	single nucleotide variant	NM_005461.5(MAFB):c.252T>G (p.Asp84Glu)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005026945]	uncertain significance	20	40688599	40688599	Human	1	trait , alternate_id
597651996	CV3720756	single nucleotide variant	NM_005461.5(MAFB):c.136T>G (p.Cys46Gly)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005026946]	uncertain significance	20	40688715	40688715	Human	1	trait , alternate_id
597691254	CV3720757	single nucleotide variant	NM_005461.5(MAFB):c.127G>A (p.Gly43Ser)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005032533]\|not provided [RCV005112792]	uncertain significance	20	40688724	40688724	Human	1	trait , alternate_id
597652009	CV3720758	single nucleotide variant	NM_005461.5(MAFB):c.112C>G (p.Arg38Gly)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005026947]	uncertain significance	20	40688739	40688739	Human	1	trait , alternate_id
597691264	CV3720759	single nucleotide variant	NM_005461.5(MAFB):c.106C>G (p.Leu36Val)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005032534]	uncertain significance	20	40688745	40688745	Human	1	trait , alternate_id
597691274	CV3720760	single nucleotide variant	NM_005461.5(MAFB):c.62T>C (p.Val21Ala)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005032535]	uncertain significance	20	40688789	40688789	Human	1	trait , alternate_id
597652018	CV3720761	single nucleotide variant	NM_005461.5(MAFB):c.22G>C (p.Gly8Arg)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005026948]	uncertain significance	20	40688829	40688829	Human	1	trait , alternate_id
597691285	CV3720762	single nucleotide variant	NM_005461.5(MAFB):c.19A>C (p.Met7Leu)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV005032536]	uncertain significance	20	40688832	40688832	Human	1	trait , alternate_id
8568571	CV39725	single nucleotide variant	NM_005461.5(MAFB):c.184A>C (p.Thr62Pro)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000023747]	pathogenic	20	40688667	40688667	Human	1	trait , alternate_id
8568572	CV39726	single nucleotide variant	NM_005461.5(MAFB):c.208T>G (p.Ser70Ala)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000023748]	pathogenic	20	40688643	40688643	Human	1	trait , alternate_id
8568573	CV39727	single nucleotide variant	NM_005461.5(MAFB):c.209C>T (p.Ser70Leu)	Inborn genetic diseases [RCV001266648]\|Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000023749]\|not provided [RCV005089308]	pathogenic\|likely pathogenic	20	40688642	40688642	Human	2	trait , alternate_id
8568574	CV39728	single nucleotide variant	NM_005461.5(MAFB):c.211C>T (p.Pro71Ser)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000023750]	pathogenic	20	40688640	40688640	Human	1	trait , alternate_id
8568575	CV39729	single nucleotide variant	NM_005461.5(MAFB):c.212C>T (p.Pro71Leu)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000023751]	pathogenic	20	40688639	40688639	Human	1	trait , alternate_id
8568576	CV39730	single nucleotide variant	NM_005461.5(MAFB):c.161C>T (p.Ser54Leu)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000023752]\|not provided [RCV000724296]	pathogenic	20	40688690	40688690	Human	1	trait , alternate_id
13833408	CV584642	single nucleotide variant	NM_005461.5(MAFB):c.125C>T (p.Pro42Leu)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV002493309]\|not provided [RCV000728664]	uncertain significance	20	40688726	40688726	Human	1	trait , alternate_id
14710332	CV672358	single nucleotide variant	NM_005461.5(MAFB):c.173C>G (p.Thr58Arg)	Carpal osteolysis [RCV000845260]\|Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV002290978]	likely pathogenic	20	40688678	40688678	Human	2	trait , alternate_id
21073193	CV791983	single nucleotide variant	NM_005461.5(MAFB):c.185C>T (p.Thr62Ile)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000990302]	pathogenic	20	40688666	40688666	Human	1	trait , alternate_id
38473960	CV794339	single nucleotide variant	NM_005461.5(MAFB):c.526G>A (p.Ala176Thr)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV002481760]\|not provided [RCV001248840]	uncertain significance	20	40688325	40688325	Human	1	trait , alternate_id
21074992	CV798765	single nucleotide variant	NM_005461.5(MAFB):c.184A>G (p.Thr62Ala)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV000995802]	pathogenic	20	40688667	40688667	Human	1	trait , alternate_id
21404545	CV802231	single nucleotide variant	NM_005461.5(MAFB):c.197C>T (p.Ser66Phe)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001004935]	likely pathogenic	20	40688654	40688654	Human	1	trait , alternate_id
28901980	CV886087	single nucleotide variant	NM_005461.5(MAFB):c.*1690G>A	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001143395]	benign	20	40686189	40686189	Human	1	trait , alternate_id
28883085	CV886088	single nucleotide variant	NM_005461.5(MAFB):c.*1519C>A	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001136820]	uncertain significance	20	40686360	40686360	Human	1	trait , alternate_id
28890513	CV886089	single nucleotide variant	NM_005461.5(MAFB):c.*1171A>C	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001139063]	uncertain significance	20	40686708	40686708	Human	1	trait , alternate_id
28890515	CV886090	single nucleotide variant	NM_005461.5(MAFB):c.*1019A>C	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001139064]	uncertain significance	20	40686860	40686860	Human	1	trait , alternate_id
28897680	CV886091	single nucleotide variant	NM_005461.5(MAFB):c.*791C>G	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001141674]	uncertain significance	20	40687088	40687088	Human	1	trait , alternate_id
28897682	CV886092	single nucleotide variant	NM_005461.5(MAFB):c.*565C>T	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001141675]	uncertain significance	20	40687314	40687314	Human	1	trait , alternate_id
28897685	CV886093	single nucleotide variant	NM_005461.5(MAFB):c.*415G>A	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001141676]	uncertain significance	20	40687464	40687464	Human	1	trait , alternate_id
28897689	CV886094	single nucleotide variant	NM_005461.5(MAFB):c.*367G>A	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001141677]	uncertain significance	20	40687512	40687512	Human	1	trait , alternate_id
28902239	CV886095	single nucleotide variant	NM_005461.5(MAFB):c.*175G>A	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001143499]	uncertain significance	20	40687704	40687704	Human	1	trait , alternate_id
28883447	CV886096	single nucleotide variant	NM_005461.5(MAFB):c.648C>T (p.Leu216=)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001136923]\|not provided [RCV002558299]	likely benign\|uncertain significance	20	40688203	40688203	Human	1	trait , alternate_id
28883452	CV886097	single nucleotide variant	NM_005461.5(MAFB):c.420C>T (p.His140=)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001136924]	uncertain significance	20	40688431	40688431	Human	1	trait , alternate_id
28883457	CV886099	single nucleotide variant	NM_005461.5(MAFB):c.368G>C (p.Ser123Thr)	Inborn genetic diseases [RCV003163295]\|Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001136926]\|not provided [RCV001856749]	likely benign\|uncertain significance	20	40688483	40688483	Human	2	trait , alternate_id
28883461	CV886100	single nucleotide variant	NM_005461.5(MAFB):c.329C>A (p.Ala110Glu)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001136927]	uncertain significance	20	40688522	40688522	Human	1	trait , alternate_id
28890852	CV886101	single nucleotide variant	NM_005461.5(MAFB):c.224C>A (p.Pro75Gln)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001139171]	uncertain significance	20	40688627	40688627	Human	1	trait , alternate_id
28890855	CV886102	single nucleotide variant	NM_005461.5(MAFB):c.153A>G (p.Pro51=)	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001139172]	uncertain significance	20	40688698	40688698	Human	1	trait , alternate_id
28890858	CV886103	single nucleotide variant	NM_005461.5(MAFB):c.-76C>A	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001139173]	uncertain significance	20	40688926	40688926	Human	1	trait , alternate_id
28890862	CV886104	single nucleotide variant	NM_005461.5(MAFB):c.-82T>G	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001139174]	uncertain significance	20	40688932	40688932	Human	1	trait , alternate_id
28898003	CV886105	single nucleotide variant	NM_005461.5(MAFB):c.-130C>T	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001141794]	uncertain significance	20	40688980	40688980	Human	1	trait , alternate_id
28898007	CV886106	single nucleotide variant	NM_005461.5(MAFB):c.-211A>C	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001141795]	uncertain significance	20	40689061	40689061	Human	1	trait , alternate_id
28898009	CV886107	single nucleotide variant	NM_005461.5(MAFB):c.-222G>T	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001141796]	uncertain significance	20	40689072	40689072	Human	1	trait , alternate_id
28898012	CV886108	single nucleotide variant	NM_005461.5(MAFB):c.-225C>G	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001141797]	uncertain significance	20	40689075	40689075	Human	1	trait , alternate_id
28902502	CV886109	single nucleotide variant	NM_005461.5(MAFB):c.-269G>C	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001143599]	uncertain significance	20	40689119	40689119	Human	1	trait , alternate_id
28902504	CV886110	single nucleotide variant	NM_005461.5(MAFB):c.-297G>T	Multicentric carpo-tarsal osteolysis with or without nephropathy [RCV001143600]	uncertain significance	20	40689147	40689147	Human	1	trait , alternate_id
15174448	CV789313	single nucleotide variant	NM_001321120.1:c.557T>G	Ischiopatellar dysplasia [RCV000984864]	pathogenic				Human		alternate_id
8559495	CV21735	single nucleotide variant	NM_005450.6(NOG):c.611G>T (p.Arg204Leu)	Tarsal-carpal coalition syndrome [RCV000007084]	pathogenic	17	56594834	56594834	Human	1	trait
150404444	CV1175668	single nucleotide variant	NM_001321120.2(TBX4):c.292C>G (p.Pro98Ala)	Coxopodopatellar syndrome [RCV001544551]\|Pulmonary hypertension, primary, 1 [RCV001826389]	conflicting interpretations of pathogenicity\|uncertain significance	17	61465829	61465829	Human	2	alternate_id
150404468	CV1178842	single nucleotide variant	NM_001321120.2(TBX4):c.401+3A>T	Coxopodopatellar syndrome [RCV001548763]	uncertain significance	17	61465941	61465941	Human	1	alternate_id
151233480	CV1317834	single nucleotide variant	NM_001321120.2(TBX4):c.1021+1G>A	Pulmonary hypertension, primary, 1 [RCV001827592]\|not provided [RCV001787601]	pathogenic\|likely pathogenic	17	61480320	61480320	Human	1	alternate_id
151664435	CV1332610	single nucleotide variant	NM_001321120.2(TBX4):c.781C>T (p.Arg261Ter)	Coxopodopatellar syndrome [RCV002074388]\|Pulmonary hypertension, primary, 1 [RCV001829318]	pathogenic\|not provided	17	61479959	61479959	Human	2	alternate_id
151664438	CV1332613	single nucleotide variant	NM_001321120.2(TBX4):c.1065T>G (p.Tyr355Ter)	Coxopodopatellar syndrome [RCV001829321]	not provided	17	61482940	61482940	Human		alternate_id
151664439	CV1332614	single nucleotide variant	NM_001321120.2(TBX4):c.901C>T (p.Gln301Ter)	Coxopodopatellar syndrome [RCV001829322]	not provided	17	61480199	61480199	Human		alternate_id
151664440	CV1332615	single nucleotide variant	NM_001321120.2(TBX4):c.932C>A (p.Ser311Ter)	Coxopodopatellar syndrome [RCV001829323]	not provided	17	61480230	61480230	Human		alternate_id
151664450	CV1332625	duplication	NM_001321120.2(TBX4):c.113dup (p.Leu39fs)	Coxopodopatellar syndrome [RCV001829333]	not provided	17	61456600	61456601	Human		alternate_id
151664451	CV1332626	duplication	NM_001321120.2(TBX4):c.1167dup (p.Arg390fs)	Coxopodopatellar syndrome [RCV001829334]\|not provided [RCV002542784]	pathogenic\|not provided	17	61483037	61483038	Human	1	alternate_id
151664458	CV1332633	single nucleotide variant	NM_001321120.2(TBX4):c.287T>A (p.Met96Lys)	Coxopodopatellar syndrome [RCV001829341]	not provided	17	61465824	61465824	Human		alternate_id
151664468	CV1332643	single nucleotide variant	NM_001321120.2(TBX4):c.338A>G (p.Tyr113Cys)	Coxopodopatellar syndrome [RCV001829351]	not provided	17	61465875	61465875	Human		alternate_id
151664469	CV1332644	single nucleotide variant	NM_001321120.2(TBX4):c.316G>A (p.Gly106Ser)	Autosomal recessive amelia [RCV005397034]\|Pulmonary hypertension, primary, 1 [RCV001829352]	likely pathogenic\|uncertain significance	17	61465853	61465853	Human	2	alternate_id
151664476	CV1332651	single nucleotide variant	NM_001321120.2(TBX4):c.748C>T (p.Arg250Trp)	Coxopodopatellar syndrome [RCV001829359]\|not provided [RCV002034695]	pathogenic\|not provided	17	61479926	61479926	Human	1	alternate_id
152982551	CV1677480	single nucleotide variant	NM_001321120.2(TBX4):c.3G>A (p.Met1Ile)	Coxopodopatellar syndrome [RCV002249189]	likely pathogenic	17	61456493	61456493	Human	1	alternate_id
156028182	CV2049023	single nucleotide variant	NM_001321120.2(TBX4):c.271A>G (p.Lys91Glu)	Coxopodopatellar syndrome [RCV002795926]	likely pathogenic	17	61457621	61457621	Human	1	alternate_id
8597696	CV22894	single nucleotide variant	NM_001321120.2(TBX4):c.743G>T (p.Gly248Val)	Coxopodopatellar syndrome [RCV000008305]	pathogenic	17	61479921	61479921	Human	1	alternate_id
8597697	CV22895	single nucleotide variant	NM_001321120.2(TBX4):c.184C>T (p.Gln62Ter)	Coxopodopatellar syndrome [RCV000008306]	pathogenic	17	61456674	61456674	Human	1	alternate_id
8597698	CV22896	single nucleotide variant	NM_001321120.2(TBX4):c.1595A>G (p.Gln532Arg)	Coxopodopatellar syndrome [RCV000008307]	pathogenic	17	61483470	61483470	Human	1	alternate_id
11544757	CV256296	single nucleotide variant	NM_001321120.2(TBX4):c.402-8G>A	Autosomal recessive amelia [RCV001815269]\|Coxopodopatellar syndrome [RCV000393613]\|not provided [RCV001668560]\|not specified [RCV000244217]	benign	17	61467502	61467502	Human	2	alternate_id
11548677	CV256297	single nucleotide variant	NM_001321120.2(TBX4):c.941C>T (p.Ala314Val)	Coxopodopatellar syndrome [RCV000320885]\|not provided [RCV001689888]\|not specified [RCV000249399]	benign	17	61480239	61480239	Human	5	alternate_id
11548677	CV256297	single nucleotide variant	NM_001321120.2(TBX4):c.941C>T (p.Ala314Val)	Coxopodopatellar syndrome [RCV000320885]\|not provided [RCV001689888]\|not specified [RCV000249399]	benign	17	61480239	61480240	Human	5	alternate_id
11550965	CV256298	single nucleotide variant	NM_001321120.2(TBX4):c.1449C>T (p.Val483=)	Coxopodopatellar syndrome [RCV000396021]\|not provided [RCV001723853]\|not specified [RCV000252435]	benign	17	61483324	61483324	Human	1	alternate_id
11567994	CV263862	single nucleotide variant	NM_001321120.2(TBX4):c.557T>G (p.Leu186Arg)	Coxopodopatellar syndrome [RCV000984864]\|Pulmonary hypertension, primary, 1 [RCV000258934]	pathogenic\|uncertain significance	17	61478634	61478634	Human	2	alternate_id
329951960	CV2668294	single nucleotide variant	NM_001321120.2(TBX4):c.1021G>A (p.Ala341Thr)	Coxopodopatellar syndrome [RCV003229798]	uncertain significance	17	61480319	61480319	Human	1	alternate_id
405291175	CV3222138	single nucleotide variant	NM_001321120.2(TBX4):c.549+1G>A	Coxopodopatellar syndrome [RCV003984957]	pathogenic	17	61467658	61467658	Human	1	alternate_id
11615635	CV329217	single nucleotide variant	NM_001321120.2(TBX4):c.172G>A (p.Ala58Thr)	Coxopodopatellar syndrome [RCV000287501]	benign\|likely benign	17	61456662	61456662	Human	1	alternate_id
11622468	CV329218	single nucleotide variant	NM_001321120.2(TBX4):c.921C>T (p.Asn307=)	Coxopodopatellar syndrome [RCV000360546]\|TBX4-related disorder [RCV004739685]\|not provided [RCV000975801]	benign\|likely benign	17	61480219	61480219	Human	1	alternate_id
11621585	CV329221	single nucleotide variant	NM_001321120.2(TBX4):c.1524G>A (p.Ser508=)	Coxopodopatellar syndrome [RCV000350420]\|not provided [RCV002524433]	benign\|likely benign	17	61483399	61483399	Human	1	alternate_id
11625479	CV329223	single nucleotide variant	NM_001321120.2(TBX4):c.1623G>A (p.Glu541=)	Coxopodopatellar syndrome [RCV000399441]\|not provided [RCV000949006]	benign\|likely benign	17	61483498	61483498	Human	1	alternate_id
11616675	CV329227	single nucleotide variant	NM_001321120.2(TBX4):c.*7C>T	Coxopodopatellar syndrome [RCV000296936]\|TBX4-related disorder [RCV004549717]\|not provided [RCV004709715]	benign\|likely benign	17	61483523	61483523	Human	1	alternate_id
11616210	CV329228	single nucleotide variant	NM_001321120.2(TBX4):c.*138A>G	Coxopodopatellar syndrome [RCV000292848]\|not provided [RCV001690074]	benign	17	61483654	61483654	Human	1	alternate_id
11648305	CV329229	single nucleotide variant	NM_001321120.2(TBX4):c.*661G>A	Coxopodopatellar syndrome [RCV000281258]	uncertain significance	17	61484177	61484177	Human	1	alternate_id
11620760	CV329230	single nucleotide variant	NM_001321120.2(TBX4):c.*707G>T	Coxopodopatellar syndrome [RCV000340879]\|not provided [RCV004709718]	benign	17	61484223	61484223	Human	1	alternate_id
11620917	CV339409	single nucleotide variant	NM_001321120.2(TBX4):c.17G>C (p.Gly6Ala)	Coxopodopatellar syndrome [RCV000342728]\|not provided [RCV001613043]	benign	17	61456507	61456507	Human	5	alternate_id
11620917	CV339409	single nucleotide variant	NM_001321120.2(TBX4):c.17G>C (p.Gly6Ala)	Coxopodopatellar syndrome [RCV000342728]\|not provided [RCV001613043]	benign	17	61456507	61456508	Human	5	alternate_id
11662923	CV339413	single nucleotide variant	NM_001321120.2(TBX4):c.110C>T (p.Pro37Leu)	Coxopodopatellar syndrome [RCV000390376]\|Inborn genetic diseases [RCV004021708]	uncertain significance	17	61456600	61456600	Human	2	alternate_id
11621143	CV339415	single nucleotide variant	NM_001321120.2(TBX4):c.187-15C>T	Coxopodopatellar syndrome [RCV000344769]\|not provided [RCV004709714]	benign\|likely benign	17	61457522	61457522	Human	1	alternate_id
11612471	CV339417	single nucleotide variant	NM_001321120.2(TBX4):c.759T>A (p.Asp253Glu)	Coxopodopatellar syndrome [RCV000259583]\|not provided [RCV003765881]	uncertain significance	17	61479937	61479937	Human	1	alternate_id
11618729	CV339421	single nucleotide variant	NM_001321120.2(TBX4):c.791+11G>A	Coxopodopatellar syndrome [RCV000317187]	benign\|uncertain significance	17	61479980	61479980	Human	1	alternate_id
11623812	CV339422	single nucleotide variant	NM_001321120.2(TBX4):c.1005C>T (p.His335=)	Coxopodopatellar syndrome [RCV000377806]\|not provided [RCV003409510]	benign\|likely benign	17	61480303	61480303	Human	1	alternate_id
11615971	CV339423	single nucleotide variant	NM_001321120.2(TBX4):c.1073C>T (p.Ala358Val)	Coxopodopatellar syndrome [RCV000290587]\|Pulmonary hypertension, primary, 1 [RCV001828322]	likely benign\|uncertain significance\|not provided	17	61482948	61482948	Human	2	alternate_id
11619750	CV339424	single nucleotide variant	NM_001321120.2(TBX4):c.1086G>C (p.Val362=)	Coxopodopatellar syndrome [RCV000329274]\|not provided [RCV000934130]	benign\|likely benign	17	61482961	61482961	Human	1	alternate_id
11624063	CV339426	single nucleotide variant	NM_001321120.2(TBX4):c.1158G>A (p.Glu386=)	Coxopodopatellar syndrome [RCV000381426]\|not provided [RCV003718189]	benign\|likely benign	17	61483033	61483033	Human	1	alternate_id
11616273	CV339430	single nucleotide variant	NM_001321120.2(TBX4):c.1515G>A (p.Lys505=)	Coxopodopatellar syndrome [RCV000293101]\|not provided [RCV000971814]	benign\|likely benign	17	61483390	61483390	Human	1	alternate_id
11622117	CV339433	single nucleotide variant	NM_001321120.2(TBX4):c.*25G>A	Coxopodopatellar syndrome [RCV000356397]\|not provided [RCV004709716]	benign\|likely benign	17	61483541	61483541	Human	1	alternate_id
11635269	CV339434	microsatellite	NM_001321120.2(TBX4):c.*98GT[27]	Coxopodopatellar syndrome [RCV000327166]\|not provided [RCV001636914]	benign\|uncertain significance	17	61483613	61483614	Human		alternate_id
11617280	CV339436	microsatellite	NM_001321120.2(TBX4):c.*98GT[24]	Coxopodopatellar syndrome [RCV000302661]\|not provided [RCV001683305]	benign\|uncertain significance	17	61483613	61483614	Human		alternate_id
11635827	CV339437	microsatellite	NM_001321120.2(TBX4):c.*98GT[21]	Coxopodopatellar syndrome [RCV000400825]\|not provided [RCV001690073]	benign	17	61483613	61483614	Human		alternate_id
11655747	CV339444	deletion	NM_001321120.2(TBX4):c.136_139del	Coxopodopatellar syndrome [RCV000328214]	uncertain significance	17	61483651	61483654	Human	1	alternate_id
11656447	CV339446	single nucleotide variant	NM_001321120.2(TBX4):c.*252G>C	Coxopodopatellar syndrome [RCV000333776]	uncertain significance	17	61483768	61483768	Human	1	alternate_id
11656666	CV339454	single nucleotide variant	NM_001321120.2(TBX4):c.*383G>T	Coxopodopatellar syndrome [RCV000335097]	uncertain significance	17	61483899	61483899	Human	1	alternate_id
11661353	CV339456	single nucleotide variant	NM_001321120.2(TBX4):c.*627T>C	Coxopodopatellar syndrome [RCV000375727]	uncertain significance	17	61484143	61484143	Human	1	alternate_id
11625397	CV339459	single nucleotide variant	NM_001321120.2(TBX4):c.*722C>A	Coxopodopatellar syndrome [RCV000398413]	benign\|likely benign	17	61484238	61484238	Human	1	alternate_id
11631386	CV345222	single nucleotide variant	NM_001321120.2(TBX4):c.24C>T (p.Ser8=)	Coxopodopatellar syndrome [RCV000376475]\|TBX4-related disorder [RCV004549714]	benign\|likely benign\|uncertain significance	17	61456514	61456514	Human	1	alternate_id
11630709	CV345224	single nucleotide variant	NM_001321120.2(TBX4):c.703-8C>T	Coxopodopatellar syndrome [RCV000356665]\|not provided [RCV000883458]	benign\|likely benign	17	61479873	61479873	Human	1	alternate_id
11630487	CV345229	single nucleotide variant	NM_001321120.2(TBX4):c.1227C>T (p.Asp409=)	Coxopodopatellar syndrome [RCV000351494]\|not provided [RCV001683304]	benign	17	61483102	61483102	Human	1	alternate_id
11626949	CV345235	single nucleotide variant	NM_001321120.2(TBX4):c.*99T>A	Coxopodopatellar syndrome [RCV000273118]	benign\|likely benign	17	61483615	61483615	Human	1	alternate_id
11635554	CV345241	microsatellite	NM_001321120.2(TBX4):c.*98GT[25]	Coxopodopatellar syndrome [RCV000362091]\|not provided [RCV001534565]	benign\|uncertain significance	17	61483613	61483614	Human		alternate_id
11659968	CV345242	microsatellite	NM_001321120.2(TBX4):c.*98GT[18]	Coxopodopatellar syndrome [RCV000363023]\|not provided [RCV004694342]	uncertain significance	17	61483614	61483617	Human		alternate_id
11662568	CV345244	microsatellite	NM_001321120.2(TBX4):c.*137TA[1]	Coxopodopatellar syndrome [RCV000387407]	uncertain significance	17	61483653	61483654	Human		alternate_id
11631770	CV345245	single nucleotide variant	NM_001321120.2(TBX4):c.*313A>C	Coxopodopatellar syndrome [RCV000388254]	likely benign	17	61483829	61483829	Human	1	alternate_id
11627341	CV345251	single nucleotide variant	NM_001321120.2(TBX4):c.*327G>A	Coxopodopatellar syndrome [RCV000279851]\|not provided [RCV004709717]	benign	17	61483843	61483843	Human	1	alternate_id
11628597	CV345259	single nucleotide variant	NM_001321120.2(TBX4):c.*766A>C	Coxopodopatellar syndrome [RCV000305444]	benign\|likely benign	17	61484282	61484282	Human	1	alternate_id
11627591	CV346630	single nucleotide variant	NM_001321120.2(TBX4):c.16G>A (p.Gly6Ser)	Coxopodopatellar syndrome [RCV000285413]\|TBX4-related disorder [RCV004549713]\|not provided [RCV000969924]	benign\|likely benign	17	61456506	61456506	Human	1	alternate_id
11627565	CV346632	single nucleotide variant	NM_001321120.2(TBX4):c.104C>T (p.Ala35Val)	Coxopodopatellar syndrome [RCV000284332]\|not provided [RCV000952761]	benign\|likely benign	17	61456594	61456594	Human	1	alternate_id
11658064	CV346633	single nucleotide variant	NM_001321120.2(TBX4):c.108G>T (p.Ala36=)	Coxopodopatellar syndrome [RCV000346338]	uncertain significance	17	61456598	61456598	Human	1	alternate_id
11632259	CV346634	single nucleotide variant	NM_001321120.2(TBX4):c.249G>A (p.Ala83=)	Coxopodopatellar syndrome [RCV000402371]\|not provided [RCV000959772]	benign\|likely benign	17	61457599	61457599	Human	1	alternate_id
11629068	CV346635	single nucleotide variant	NM_001321120.2(TBX4):c.276T>G (p.Ala92=)	Coxopodopatellar syndrome [RCV000314981]\|not provided [RCV001675821]\|not specified [RCV000455356]	benign	17	61457626	61457626	Human	1	alternate_id
11631049	CV346641	single nucleotide variant	NM_001321120.2(TBX4):c.335A>G (p.Lys112Arg)	Coxopodopatellar syndrome [RCV000367202]\|Inborn genetic diseases [RCV003168479]	likely benign\|uncertain significance	17	61465872	61465872	Human	2	alternate_id
11628340	CV346642	single nucleotide variant	NM_001321120.2(TBX4):c.622G>A (p.Gly208Ser)	Coxopodopatellar syndrome [RCV000299534]	benign\|likely benign	17	61478699	61478699	Human	1	alternate_id
11626705	CV346643	single nucleotide variant	NM_001321120.2(TBX4):c.932C>T (p.Ser311Leu)	Coxopodopatellar syndrome [RCV000268145]\|TBX4-related disorder [RCV004549715]\|not provided [RCV000949005]	benign\|likely benign	17	61480230	61480230	Human	1	alternate_id
11627850	CV346648	single nucleotide variant	NM_001321120.2(TBX4):c.1217C>G (p.Ser406Cys)	Coxopodopatellar syndrome [RCV000289412]\|TBX4-related disorder [RCV004549716]\|not provided [RCV000906439]	benign\|likely benign	17	61483092	61483092	Human	1	alternate_id
11634647	CV346649	microsatellite	NM_001321120.2(TBX4):c.*98GT[26]	Coxopodopatellar syndrome [RCV000267442]\|not provided [RCV001534539]	benign\|uncertain significance	17	61483613	61483614	Human		alternate_id
597831788	CV3863931	single nucleotide variant	NM_001321120.2(TBX4):c.402-3C>G	Coxopodopatellar syndrome [RCV005208345]	uncertain significance	17	61467507	61467507	Human	1	alternate_id
598178803	CV4008494	single nucleotide variant	NM_001321120.2(TBX4):c.143C>T (p.Pro48Leu)	Autosomal recessive amelia [RCV005394013]	uncertain significance	17	61456633	61456633	Human	1	alternate_id
617153055	CV4016543	duplication	NM_001321120.2(TBX4):c.1104_1107dup (p.Ser370fs)	Coxopodopatellar syndrome [RCV005415506]	pathogenic	17	61482977	61482978	Human	1	alternate_id
13704078	CV539177	deletion	NM_001321120.2(TBX4):c.538_547del (p.Pro180fs)	Coxopodopatellar syndrome [RCV001829826]\|Pulmonary arterial hypertension associated with congenital heart disease [RCV000664180]	likely pathogenic	17	61467645	61467654	Human	2	alternate_id
14395960	CV611864	single nucleotide variant	NM_001321120.2(TBX4):c.1018C>T (p.Arg340Ter)	Coxopodopatellar syndrome [RCV005253110]\|not provided [RCV000760681]	pathogenic	17	61480316	61480316	Human	1	alternate_id
14696498	CV622042	duplication	NM_001321120.2(TBX4):c.355dup (p.Ile119fs)	Coxopodopatellar syndrome [RCV000782140]	pathogenic	17	61465891	61465892	Human	1	alternate_id
21067069	CV625980	single nucleotide variant	NM_001321120.2(TBX4):c.402G>A (p.Trp134Ter)	Autosomal recessive amelia [RCV001251075]\|Coxopodopatellar syndrome [RCV001251076]\|Hydronephrosis [RCV000991130]	pathogenic	17	61467510	61467510	Human	9	alternate_id
15201851	CV727329	single nucleotide variant	NM_001321120.2(TBX4):c.1113C>G (p.Pro371=)	Coxopodopatellar syndrome [RCV001123381]\|not provided [RCV000891311]	benign\|likely benign	17	61482988	61482988	Human	1	alternate_id
21073064	CV788913	single nucleotide variant	NM_001321120.2(TBX4):c.524A>C (p.Asn175Thr)	Coxopodopatellar syndrome [RCV000984951]	uncertain significance	17	61467632	61467632	Human	1	alternate_id
15174445	CV789310	deletion	NM_001321120.2(TBX4):c.251del (p.Gly84fs)	Coxopodopatellar syndrome [RCV000984861]\|Pulmonary hypertension, primary, 1 [RCV001827122]	pathogenic	17	61457599	61457599	Human	2	alternate_id
15174446	CV789311	single nucleotide variant	NM_001321120.2(TBX4):c.1057C>T (p.Arg353Ter)	Coxopodopatellar syndrome [RCV000984862]\|Pulmonary hypertension, primary, 1 [RCV001827123]\|not provided [RCV002549631]	pathogenic	17	61482932	61482932	Human	2	alternate_id
15174447	CV789312	single nucleotide variant	NM_001321120.2(TBX4):c.792-1G>C	Coxopodopatellar syndrome [RCV000984863]\|Pulmonary hypertension, primary, 1 [RCV001827124]	pathogenic\|likely pathogenic	17	61480089	61480089	Human	2	alternate_id
21071018	CV794273	single nucleotide variant	NM_001321120.2(TBX4):c.339T>A (p.Tyr113Ter)	Abnormality of prenatal development or birth [RCV001814249]\|Autosomal recessive amelia [RCV000993789]\|Coxopodopatellar syndrome [RCV000993790]	pathogenic	17	61465876	61465876	Human	3	alternate_id
21074876	CV798719	single nucleotide variant	NM_001321120.2(TBX4):c.281+1G>T	Coxopodopatellar syndrome [RCV000995662]	pathogenic	17	61457632	61457632	Human	1	alternate_id
21404841	CV801178	duplication	NM_001321120.2(TBX4):c.1115dup (p.Pro373fs)	Coxopodopatellar syndrome [RCV001251174]\|Coxopodopatellar syndrome [RCV001843368]\|Pulmonary arterial hypertension [RCV001003783]\|Pulmonary hypertension, primary, 1 [RCV001827163]\|Pulmonary hypertension, primary, 1 [RCV001827164]\|not provided [RCV002551706]	pathogenic\|likely pathogenic\|not provided	17	61482983	61482984	Human	4	alternate_id
28897688	CV877992	single nucleotide variant	NM_001321120.2(TBX4):c.47C>T (p.Ala16Val)	Coxopodopatellar syndrome [RCV001123297]	uncertain significance	17	61456537	61456537	Human	1	alternate_id
28900517	CV877993	single nucleotide variant	NM_001321120.2(TBX4):c.150C>T (p.Pro50=)	Coxopodopatellar syndrome [RCV001124399]	uncertain significance	17	61456640	61456640	Human	1	alternate_id
28902875	CV877994	single nucleotide variant	NM_001321120.2(TBX4):c.399A>T (p.Lys133Asn)	Coxopodopatellar syndrome [RCV001125402]\|Inborn genetic diseases [RCV002556715]\|not provided [RCV003546635]	benign\|uncertain significance	17	61465936	61465936	Human	2	alternate_id
28902880	CV877995	single nucleotide variant	NM_001321120.2(TBX4):c.595G>A (p.Val199Ile)	Coxopodopatellar syndrome [RCV001125403]\|Inborn genetic diseases [RCV004963133]\|not provided [RCV002556716]	benign\|likely benign\|uncertain significance	17	61478672	61478672	Human	2	alternate_id
28902882	CV877996	single nucleotide variant	NM_001321120.2(TBX4):c.658C>A (p.Pro220Thr)	Coxopodopatellar syndrome [RCV001125404]	uncertain significance	17	61478735	61478735	Human	1	alternate_id
28907285	CV877997	single nucleotide variant	NM_001321120.2(TBX4):c.1105C>T (p.Arg369Cys)	Coxopodopatellar syndrome [RCV001127488]\|Pulmonary hypertension, primary, 1 [RCV001828564]\|not provided [RCV003727886]	likely benign\|not provided	17	61482980	61482980	Human	2	alternate_id
28897903	CV877998	single nucleotide variant	NM_001321120.2(TBX4):c.1109C>A (p.Ser370Tyr)	Coxopodopatellar syndrome [RCV001123380]	uncertain significance	17	61482984	61482984	Human	1	alternate_id
28897909	CV877999	single nucleotide variant	NM_001321120.2(TBX4):c.1215G>T (p.Val405=)	Coxopodopatellar syndrome [RCV001123382]	uncertain significance	17	61483090	61483090	Human	1	alternate_id
28897915	CV878000	single nucleotide variant	NM_001321120.2(TBX4):c.1277C>T (p.Pro426Leu)	Coxopodopatellar syndrome [RCV001123383]\|not provided [RCV004761936]	uncertain significance	17	61483152	61483152	Human	1	alternate_id
28897919	CV878001	single nucleotide variant	NM_001321120.2(TBX4):c.1401A>G (p.Pro467=)	Coxopodopatellar syndrome [RCV001123384]	uncertain significance	17	61483276	61483276	Human	1	alternate_id
28900765	CV878002	single nucleotide variant	NM_001321120.2(TBX4):c.*8G>A	Coxopodopatellar syndrome [RCV001124489]	benign	17	61483524	61483524	Human	1	alternate_id
28903117	CV878003	single nucleotide variant	NM_001321120.2(TBX4):c.*409G>A	Coxopodopatellar syndrome [RCV001125492]	uncertain significance	17	61483925	61483925	Human	1	alternate_id
28903119	CV878004	single nucleotide variant	NM_001321120.2(TBX4):c.*428G>A	Coxopodopatellar syndrome [RCV001125493]	uncertain significance	17	61483944	61483944	Human	1	alternate_id
28903120	CV878005	single nucleotide variant	NM_001321120.2(TBX4):c.*607G>T	Coxopodopatellar syndrome [RCV001125494]	uncertain significance	17	61484123	61484123	Human	1	alternate_id
28907455	CV878006	single nucleotide variant	NM_001321120.2(TBX4):c.*759A>G	Coxopodopatellar syndrome [RCV001127599]	benign	17	61484275	61484275	Human	1	alternate_id
28907282	CV880559	single nucleotide variant	NM_001321120.2(TBX4):c.791+11G>T	Coxopodopatellar syndrome [RCV001127487]\|not provided [RCV003769222]	likely benign\|uncertain significance	17	61479980	61479980	Human	1	alternate_id
38597712	CV964488	deletion	NM_001321120.2(TBX4):c.1090del (p.Glu364fs)	Coxopodopatellar syndrome [RCV001253035]	uncertain significance	17	61482961	61482961	Human	1	alternate_id
40815877	CV970530	single nucleotide variant	NM_001321120.2(TBX4):c.979C>T (p.Gln327Ter)	Coxopodopatellar syndrome [RCV001261981]	likely pathogenic	17	61480277	61480277	Human	1	alternate_id
8559490	CV21730	single nucleotide variant	NM_005450.6(NOG):c.665A>G (p.Tyr222Cys)	Proximal symphalangism 1A [RCV000007079]\|Tarsal-carpal coalition syndrome [RCV000007087]\|not provided [RCV002247256]	pathogenic\|likely pathogenic	17	56594888	56594888	Human	2	trait
8559496	CV21736	single nucleotide variant	NM_005450.6(NOG):c.104C>G (p.Pro35Arg)	Proximal symphalangism 1A [RCV000049267]\|Tarsal-carpal coalition syndrome [RCV000007085]\|not provided [RCV002512863]	pathogenic\|likely pathogenic	17	56594327	56594327	Human	2	trait

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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