Trmt5 Variant Search Result - Rat Genome Database

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239 records found for search term Trmt5

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
126736423	CV1021226	single nucleotide variant	NM_020810.3(TRMT5):c.-2G>A	Combined oxidative phosphorylation defect type 26 [RCV001335078]	uncertain significance	14	60980975	60980975	Human	1	name
405287934	CV3214731	single nucleotide variant	NM_020810.3(TRMT5):c.-55G>T	TRMT5-related disorder [RCV003924673]	benign	14	60981028	60981028	Human		name , trait , alternate_id
151804333	CV1432286	single nucleotide variant	NM_020810.3(TRMT5):c.12-3A>T	not provided [RCV001991239]	uncertain significance	14	60979889	60979889	Human		name
156381133	CV1964290	deletion	NM_020810.3(TRMT5):c.11+6del	not provided [RCV002583173]	uncertain significance	14	60980957	60980957	Human		name
155937587	CV2054676	single nucleotide variant	NM_020810.3(TRMT5):c.12-4T>A	not provided [RCV002815478]	likely benign	14	60979890	60979890	Human		name
405289733	CV3219701	single nucleotide variant	NM_020810.3(TRMT5):c.-101A>C	TRMT5-related disorder [RCV003961962]	benign	14	60981074	60981074	Human		name , trait , alternate_id
15184902	CV730946	single nucleotide variant	NM_020810.3(TRMT5):c.12-4T>C	not provided [RCV000886551]	likely benign	14	60979890	60979890	Human		name
15160876	CV778198	deletion	NM_020810.3(TRMT5):c.12-4del	not provided [RCV000947570]	benign	14	60979890	60979890	Human		name
151847849	CV1433311	deletion	NM_020810.3(TRMT5):c.668-7del	not provided [RCV001978528]	likely benign\|uncertain significance	14	60977645	60977645	Human		name
152175675	CV1527057	single nucleotide variant	NM_020810.3(TRMT5):c.11+14C>T	not provided [RCV002163811]	likely benign	14	60980949	60980949	Human		name
152129981	CV1610453	single nucleotide variant	NM_020810.3(TRMT5):c.11+19T>G	not provided [RCV002136802]	benign	14	60980944	60980944	Human		name
152167083	CV1632938	single nucleotide variant	NM_020810.3(TRMT5):c.668-9T>A	not provided [RCV002182079]	likely benign	14	60977647	60977647	Human		name
156408352	CV1911576	deletion	NM_020810.3(TRMT5):c.793-4del	not provided [RCV002607203]	benign	14	60976130	60976130	Human		name
156023087	CV1920001	single nucleotide variant	NM_020810.3(TRMT5):c.667+4C>T	not provided [RCV002619495]	uncertain significance	14	60979227	60979227	Human		name
156216762	CV1963356	single nucleotide variant	NM_020810.3(TRMT5):c.792+6T>C	not provided [RCV002575361]	uncertain significance	14	60977508	60977508	Human		name
155938206	CV2075156	duplication	NM_020810.3(TRMT5):c.793-4dup	not provided [RCV002861593]	benign	14	60976129	60976130	Human		name
156294545	CV2152908	single nucleotide variant	NM_020810.3(TRMT5):c.792+8T>A	not provided [RCV003010105]	likely benign	14	60977506	60977506	Human		name
405281751	CV3216152	single nucleotide variant	NM_020810.3(TRMT5):c.11+90G>A	TRMT5-related disorder [RCV003956686]	likely benign	14	60980873	60980873	Human		name , trait , alternate_id
405268020	CV3219568	single nucleotide variant	NM_020810.3(TRMT5):c.11+24G>C	TRMT5-related disorder [RCV003969776]	likely benign	14	60980939	60980939	Human		name , trait , alternate_id
15170053	CV778200	duplication	NM_020810.3(TRMT5):c.12-21dup	not provided [RCV000949579]	benign	14	60979889	60979890	Human		name
15107395	CV779743	single nucleotide variant	NM_020810.3(TRMT5):c.667+4C>G	TRMT5-related disorder [RCV003916019]\|not provided [RCV000960282]	benign\|likely benign	14	60979227	60979227	Human	1	name , trait , alternate_id
126736412	CV1021225	deletion	NM_020810.3(TRMT5):c.11+103del	Combined oxidative phosphorylation deficiency 26 [RCV001335076]	pathogenic	14	60980860	60980860	Human		name
150455967	CV1236820	single nucleotide variant	NM_020810.3(TRMT5):c.11+208T>C	not provided [RCV001648556]	benign	14	60980755	60980755	Human		name
152156474	CV1586003	single nucleotide variant	NM_020810.3(TRMT5):c.668-15C>A	not provided [RCV002140243]	likely benign	14	60977653	60977653	Human		name
156183997	CV1884861	single nucleotide variant	NM_020810.3(TRMT5):c.1445-3C>G	not provided [RCV003083653]	uncertain significance	14	60975197	60975197	Human		name
156217420	CV1910728	single nucleotide variant	NM_020810.3(TRMT5):c.667+10T>C	not provided [RCV002596326]	likely benign	14	60979221	60979221	Human		name
156206016	CV1959290	single nucleotide variant	NM_020810.3(TRMT5):c.792+17C>T	not provided [RCV002574960]	likely benign	14	60977497	60977497	Human		name
155916871	CV1980949	single nucleotide variant	NM_020810.3(TRMT5):c.792+11T>C	not provided [RCV002614358]	likely benign	14	60977503	60977503	Human		name
156232402	CV2048784	single nucleotide variant	NM_020810.3(TRMT5):c.793-17A>G	not provided [RCV002791047]	likely benign	14	60976143	60976143	Human		name
155936344	CV2075228	single nucleotide variant	NM_020810.3(TRMT5):c.792+18C>T	not provided [RCV002839102]	likely benign	14	60977496	60977496	Human		name
156213964	CV2171093	single nucleotide variant	NM_020810.3(TRMT5):c.1444+4A>G	not provided [RCV003042441]	uncertain significance	14	60975471	60975471	Human		name
402517858	CV2936561	single nucleotide variant	NM_020810.3(TRMT5):c.793-12A>C	not provided [RCV003663086]	likely benign	14	60976138	60976138	Human		name
597887191	CV3787552	single nucleotide variant	NM_020810.3(TRMT5):c.1445-10T>C	not provided [RCV005125118]	uncertain significance	14	60975204	60975204	Human		name
156031239	CV2001271	duplication	NM_020810.3(TRMT5):c.792+8_792+12dup	not provided [RCV002658668]	likely benign	14	60977501	60977502	Human		name
405248618	CV2987046	insertion	NM_020810.3(TRMT5):c.12-19_12-18insC	not provided [RCV003686011]	likely benign	14	60979904	60979905	Human		name
127305473	CV1157289	variation	NM_020810.3(TRMT5):c.649= (p.Pro217=)	not provided [RCV001516294]	benign	14	60979249	60979249	Human		name
152119501	CV1659232	single nucleotide variant	NM_020810.3(TRMT5):c.69C>T (p.Ser23=)	not provided [RCV002175379]	likely benign	14	60979829	60979829	Human		name
155947167	CV2068883	deletion	NM_020810.3(TRMT5):c.667+13_667+14del	not provided [RCV002862141]	likely benign	14	60979217	60979218	Human		name
156148533	CV2154292	single nucleotide variant	NM_020810.3(TRMT5):c.75T>G (p.Thr25=)	not provided [RCV003022771]	likely benign	14	60979823	60979823	Human		name
156251358	CV2174632	single nucleotide variant	NM_020810.3(TRMT5):c.90G>A (p.Leu30=)	not provided [RCV003043799]	likely benign	14	60979808	60979808	Human		name
405179650	CV2913262	single nucleotide variant	NM_020810.3(TRMT5):c.30T>C (p.Phe10=)	not provided [RCV003563822]	likely benign	14	60979868	60979868	Human		name
405183945	CV3155959	single nucleotide variant	NM_020810.3(TRMT5):c.87G>A (p.Ser29=)	not provided [RCV003859033]	likely benign	14	60979811	60979811	Human		name
597961455	CV3753251	single nucleotide variant	NM_020810.3(TRMT5):c.33A>C (p.Gly11=)	not provided [RCV005081751]	likely benign	14	60979865	60979865	Human		name
152170611	CV1578272	single nucleotide variant	NM_020810.3(TRMT5):c.267T>C (p.Ala89=)	not provided [RCV002183214]	likely benign	14	60979631	60979631	Human		name
152048317	CV1620051	single nucleotide variant	NM_020810.3(TRMT5):c.111C>T (p.Ser37=)	not provided [RCV002207189]	likely benign	14	60979787	60979787	Human		name
156407506	CV1871994	single nucleotide variant	NM_020810.3(TRMT5):c.25C>T (p.Pro9Ser)	Inborn genetic diseases [RCV003269400]\|not provided [RCV003070898]	uncertain significance	14	60979873	60979873	Human	1	name
155952038	CV1873608	single nucleotide variant	NM_020810.3(TRMT5):c.222A>G (p.Ser74=)	TRMT5-related disorder [RCV003896213]\|not provided [RCV002511779]	benign\|likely benign	14	60979676	60979676	Human	1	name , trait , alternate_id
156391248	CV1964888	single nucleotide variant	NM_020810.3(TRMT5):c.214T>C (p.Leu72=)	TRMT5-related disorder [RCV003971323]\|not provided [RCV002583894]	likely benign	14	60979684	60979684	Human	1	name , trait , alternate_id
156120244	CV1969139	single nucleotide variant	NM_020810.3(TRMT5):c.258T>C (p.Asp86=)	not provided [RCV002593100]	likely benign	14	60979640	60979640	Human		name
156282601	CV2001488	single nucleotide variant	NM_020810.3(TRMT5):c.102T>C (p.Ala34=)	not provided [RCV002646895]	likely benign	14	60979796	60979796	Human		name
156165692	CV2019702	single nucleotide variant	NM_020810.3(TRMT5):c.102T>A (p.Ala34=)	not provided [RCV002710330]	likely benign	14	60979796	60979796	Human		name
156293926	CV2065208	single nucleotide variant	NM_020810.3(TRMT5):c.177C>T (p.Thr59=)	not provided [RCV002856863]	likely benign	14	60979721	60979721	Human		name
156297506	CV2119318	single nucleotide variant	NM_020810.3(TRMT5):c.243C>T (p.Gly81=)	not provided [RCV002961989]	uncertain significance	14	60979655	60979655	Human		name
15190441	CV702932	single nucleotide variant	NM_020810.3(TRMT5):c.165A>G (p.Lys55=)	not provided [RCV000954475]	likely benign	14	60979733	60979733	Human		name
15162419	CV714183	single nucleotide variant	NM_020810.3(TRMT5):c.231T>C (p.Ser77=)	TRMT5-related disorder [RCV003928481]\|not provided [RCV000970267]	benign\|likely benign	14	60979667	60979667	Human	1	name , trait , alternate_id
15106754	CV754101	single nucleotide variant	NM_020810.3(TRMT5):c.117A>C (p.Thr39=)	not provided [RCV000915815]	likely benign	14	60979781	60979781	Human		name
151714955	CV1392536	single nucleotide variant	NM_020810.3(TRMT5):c.97G>A (p.Val33Ile)	Inborn genetic diseases [RCV002555310]\|not provided [RCV001908782]	uncertain significance	14	60979801	60979801	Human	1	name
151784523	CV1508603	single nucleotide variant	NM_020810.3(TRMT5):c.708A>G (p.Ala236=)	not provided [RCV002010048]	likely benign\|uncertain significance	14	60977598	60977598	Human		name
152090986	CV1594211	single nucleotide variant	NM_020810.3(TRMT5):c.888C>T (p.Leu296=)	not provided [RCV002171819]	likely benign	14	60976031	60976031	Human		name
152074810	CV1620477	single nucleotide variant	NM_020810.3(TRMT5):c.531T>C (p.Tyr177=)	not provided [RCV002111953]	likely benign	14	60979367	60979367	Human		name
152162167	CV1635696	single nucleotide variant	NM_020810.3(TRMT5):c.498A>C (p.Pro166=)	not provided [RCV002203622]	likely benign	14	60979400	60979400	Human		name
152119339	CV1659184	single nucleotide variant	NM_020810.3(TRMT5):c.627A>C (p.Leu209=)	not provided [RCV002175358]	likely benign	14	60979271	60979271	Human		name
152115870	CV1662422	single nucleotide variant	NM_020810.3(TRMT5):c.409C>T (p.Leu137=)	not provided [RCV002097474]	likely benign	14	60979489	60979489	Human		name
156403277	CV1901576	single nucleotide variant	NM_020810.3(TRMT5):c.933C>T (p.Pro311=)	not provided [RCV002585179]	likely benign	14	60975986	60975986	Human		name
155900977	CV1998916	single nucleotide variant	NM_020810.3(TRMT5):c.990T>C (p.Pro330=)	not provided [RCV002681099]	likely benign	14	60975929	60975929	Human		name
156373355	CV2003688	single nucleotide variant	NM_020810.3(TRMT5):c.44G>C (p.Arg15Thr)	not provided [RCV002653085]	uncertain significance	14	60979854	60979854	Human		name
156118137	CV2017274	single nucleotide variant	NM_020810.3(TRMT5):c.915T>G (p.Val305=)	not provided [RCV002740094]	likely benign	14	60976004	60976004	Human		name
156032384	CV2037015	single nucleotide variant	NM_020810.3(TRMT5):c.774G>A (p.Glu258=)	not provided [RCV002781164]	likely benign	14	60977532	60977532	Human		name
155945459	CV2039590	single nucleotide variant	NM_020810.3(TRMT5):c.306G>A (p.Arg102=)	not provided [RCV002775452]	likely benign	14	60979592	60979592	Human		name
156052694	CV2060122	single nucleotide variant	NM_020810.3(TRMT5):c.969A>G (p.Val323=)	not provided [RCV002796821]	likely benign	14	60975950	60975950	Human		name
401902044	CV2810456	single nucleotide variant	NM_020810.3(TRMT5):c.888C>G (p.Leu296=)	TRMT5-related disorder [RCV003946537]\|not provided [RCV003393455]	likely benign	14	60976031	60976031	Human	1	name , trait , alternate_id
405196001	CV2922184	single nucleotide variant	NM_020810.3(TRMT5):c.744A>T (p.Arg248=)	not provided [RCV003565372]	likely benign	14	60977562	60977562	Human		name
402524932	CV2937089	single nucleotide variant	NM_020810.3(TRMT5):c.459A>G (p.Lys153=)	not provided [RCV003663581]	likely benign	14	60979439	60979439	Human		name
405089188	CV2939628	single nucleotide variant	NM_020810.3(TRMT5):c.963C>T (p.Cys321=)	not provided [RCV003665167]	likely benign	14	60975956	60975956	Human		name
405161074	CV2950341	single nucleotide variant	NM_020810.3(TRMT5):c.468C>T (p.Leu156=)	not provided [RCV003674688]	likely benign	14	60979430	60979430	Human		name
405253677	CV3044907	single nucleotide variant	NM_020810.3(TRMT5):c.486T>C (p.Leu162=)	not provided [RCV003722641]	likely benign	14	60979412	60979412	Human		name
405156057	CV3163461	single nucleotide variant	NM_020810.3(TRMT5):c.876C>T (p.Ile292=)	not provided [RCV003856707]	likely benign	14	60976043	60976043	Human		name
597847100	CV3761977	single nucleotide variant	NM_020810.3(TRMT5):c.327G>A (p.Leu109=)	not provided [RCV005087395]	likely benign	14	60979571	60979571	Human		name
597910078	CV3806538	single nucleotide variant	NM_020810.3(TRMT5):c.696A>G (p.Gly232=)	not provided [RCV005154105]	likely benign	14	60977610	60977610	Human		name
13831583	CV582081	deletion	NM_020810.3(TRMT5):c.270del (p.Phe90fs)	not provided [RCV000722263]	uncertain significance	14	60979628	60979628	Human		name
15196302	CV725729	single nucleotide variant	NM_020810.3(TRMT5):c.840T>C (p.Tyr280=)	TRMT5-related disorder [RCV003975610]\|not provided [RCV000889739]	benign	14	60976079	60976079	Human	1	name , trait , alternate_id
15188190	CV725730	single nucleotide variant	NM_020810.3(TRMT5):c.70A>G (p.Ile24Val)	Combined oxidative phosphorylation defect type 26 [RCV002501432]\|TRMT5-related disorder [RCV003910507]\|not provided [RCV000887462]	benign\|likely benign	14	60979828	60979828	Human	1	name , trait , alternate_id
15162420	CV739263	single nucleotide variant	NM_020810.3(TRMT5):c.771A>C (p.Gly257=)	not provided [RCV000903548]	likely benign	14	60977535	60977535	Human		name
15166519	CV754099	single nucleotide variant	NM_020810.3(TRMT5):c.987T>C (p.Asn329=)	TRMT5-related disorder [RCV003970542]\|not provided [RCV000926887]	likely benign	14	60975932	60975932	Human	1	name , trait , alternate_id
15124848	CV784740	single nucleotide variant	NM_020810.3(TRMT5):c.765A>C (p.Leu255=)	not provided [RCV000980090]	likely benign	14	60977541	60977541	Human		name
126736417	CV1021224	single nucleotide variant	NM_020810.3(TRMT5):c.171C>G (p.Phe57Leu)	Combined oxidative phosphorylation defect type 26 [RCV001335077]\|not provided [RCV002546712]	uncertain significance	14	60979727	60979727	Human	1	name
151893317	CV1338094	single nucleotide variant	NM_020810.3(TRMT5):c.1527T>G (p.Thr509=)	Combined oxidative phosphorylation defect type 26 [RCV005397080]\|not provided [RCV001944914]	uncertain significance	14	60975112	60975112	Human	1	name
151860075	CV1403874	single nucleotide variant	NM_020810.3(TRMT5):c.133G>A (p.Ala45Thr)	not provided [RCV001980013]	uncertain significance	14	60979765	60979765	Human		name
151730854	CV1420684	single nucleotide variant	NM_020810.3(TRMT5):c.121A>G (p.Met41Val)	not provided [RCV002041180]	uncertain significance	14	60979777	60979777	Human		name
151805574	CV1427177	single nucleotide variant	NM_020810.3(TRMT5):c.191A>G (p.Glu64Gly)	not provided [RCV001899466]	uncertain significance	14	60979707	60979707	Human		name
151755078	CV1467852	single nucleotide variant	NM_020810.3(TRMT5):c.157C>G (p.Gln53Glu)	not provided [RCV001948537]	uncertain significance	14	60979741	60979741	Human		name
151889558	CV1479715	duplication	NM_020810.3(TRMT5):c.489dup (p.Val164fs)	not provided [RCV001888204]	uncertain significance	14	60979408	60979409	Human		name
152063619	CV1612120	single nucleotide variant	NM_020810.3(TRMT5):c.1512A>G (p.Gln504=)	not provided [RCV002128658]	likely benign	14	60975127	60975127	Human		name
152149267	CV1642858	single nucleotide variant	NM_020810.3(TRMT5):c.1365G>A (p.Val455=)	not provided [RCV002179198]	likely benign	14	60975554	60975554	Human		name
155749559	CV1774055	single nucleotide variant	NM_020810.3(TRMT5):c.235G>A (p.Val79Ile)	not provided [RCV002304776]	uncertain significance	14	60979663	60979663	Human		name
156283962	CV1896987	single nucleotide variant	NM_020810.3(TRMT5):c.1335A>G (p.Ala445=)	not provided [RCV003087217]	likely benign	14	60975584	60975584	Human		name
156295067	CV1904556	single nucleotide variant	NM_020810.3(TRMT5):c.1500C>T (p.Asp500=)	not provided [RCV002598912]	likely benign	14	60975139	60975139	Human		name
156437075	CV1936904	single nucleotide variant	NM_020810.3(TRMT5):c.1230T>C (p.Ser410=)	not provided [RCV003106605]	likely benign	14	60975689	60975689	Human		name
156446713	CV1948067	single nucleotide variant	NM_020810.3(TRMT5):c.207G>T (p.Glu69Asp)	not provided [RCV003118227]	uncertain significance	14	60979691	60979691	Human		name
156340169	CV1974047	single nucleotide variant	NM_020810.3(TRMT5):c.1257T>C (p.Tyr419=)	not provided [RCV002601239]	likely benign	14	60975662	60975662	Human		name
155951875	CV2014038	deletion	NM_020810.3(TRMT5):c.927del (p.Phe312fs)	not provided [RCV002686065]	uncertain significance	14	60975992	60975992	Human		name
156316269	CV2028067	single nucleotide variant	NM_020810.3(TRMT5):c.110C>T (p.Ser37Phe)	not provided [RCV002716817]	uncertain significance	14	60979788	60979788	Human		name
155953633	CV2033259	single nucleotide variant	NM_020810.3(TRMT5):c.1320C>T (p.Gly440=)	not provided [RCV002730812]	likely benign	14	60975599	60975599	Human		name
156220370	CV2083891	single nucleotide variant	NM_020810.3(TRMT5):c.1300A>C (p.Arg434=)	not provided [RCV002875845]	likely benign	14	60975619	60975619	Human		name
155987377	CV2109110	single nucleotide variant	NM_020810.3(TRMT5):c.134C>T (p.Ala45Val)	Inborn genetic diseases [RCV003269326]\|not provided [RCV002947164]	uncertain significance	14	60979764	60979764	Human	1	name
155937905	CV2146380	single nucleotide variant	NM_020810.3(TRMT5):c.107C>T (p.Thr36Ile)	not provided [RCV003014069]	uncertain significance	14	60979791	60979791	Human		name
156189389	CV2165858	single nucleotide variant	NM_020810.3(TRMT5):c.1395G>C (p.Thr465=)	not provided [RCV003041601]	likely benign	14	60975524	60975524	Human		name
156295358	CV2183282	single nucleotide variant	NM_020810.3(TRMT5):c.1146G>A (p.Val382=)	not provided [RCV003027848]	likely benign	14	60975773	60975773	Human		name
156335329	CV2228375	single nucleotide variant	NM_020810.3(TRMT5):c.123G>A (p.Met41Ile)	Inborn genetic diseases [RCV002718483]	uncertain significance	14	60979775	60979775	Human	1	name
156369902	CV2263439	single nucleotide variant	NM_020810.3(TRMT5):c.198T>G (p.His66Gln)	Inborn genetic diseases [RCV002814150]	uncertain significance	14	60979700	60979700	Human	1	name
156236570	CV2268782	single nucleotide variant	NM_020810.3(TRMT5):c.158A>G (p.Gln53Arg)	Inborn genetic diseases [RCV002830255]	uncertain significance	14	60979740	60979740	Human	1	name
401886552	CV2780411	single nucleotide variant	NM_020810.3(TRMT5):c.155G>C (p.Gly52Ala)	Inborn genetic diseases [RCV003366872]	uncertain significance	14	60979743	60979743	Human	1	name
405003304	CV3016165	single nucleotide variant	NM_020810.3(TRMT5):c.1098A>G (p.Glu366=)	not provided [RCV003693312]	likely benign	14	60975821	60975821	Human		name
405023777	CV3139434	single nucleotide variant	NM_020810.3(TRMT5):c.1200G>A (p.Lys400=)	not provided [RCV003830077]	likely benign	14	60975719	60975719	Human		name
405278632	CV3216762	single nucleotide variant	NM_020810.3(TRMT5):c.1419C>G (p.Leu473=)	TRMT5-related disorder [RCV003954637]	likely benign	14	60975500	60975500	Human		name , trait , alternate_id
407461673	CV3490888	single nucleotide variant	NM_020810.3(TRMT5):c.103T>G (p.Trp35Gly)	Inborn genetic diseases [RCV004687711]	uncertain significance	14	60979795	60979795	Human	1	name
597898328	CV3740811	single nucleotide variant	NM_020810.3(TRMT5):c.1471A>C (p.Arg491=)	not provided [RCV005071974]	likely benign	14	60975168	60975168	Human		name
598188690	CV4008616	single nucleotide variant	NM_020810.3(TRMT5):c.259A>T (p.Arg87Ter)	Combined oxidative phosphorylation defect type 26 [RCV005396115]	likely pathogenic	14	60979639	60979639	Human	1	name
15180332	CV725726	single nucleotide variant	NM_020810.3(TRMT5):c.1461A>G (p.Pro487=)	not provided [RCV000885502]	benign	14	60975178	60975178	Human		name
15178374	CV739262	single nucleotide variant	NM_020810.3(TRMT5):c.1482G>A (p.Thr494=)	not provided [RCV000906863]	likely benign	14	60975157	60975157	Human		name
151774392	CV1413415	single nucleotide variant	NM_020810.3(TRMT5):c.514A>T (p.Asn172Tyr)	not provided [RCV001971491]	uncertain significance	14	60979384	60979384	Human		name
151839752	CV1415273	single nucleotide variant	NM_020810.3(TRMT5):c.563C>A (p.Ala188Asp)	Inborn genetic diseases [RCV003167266]\|not provided [RCV001921390]	uncertain significance	14	60979335	60979335	Human	1	name
151787615	CV1416739	duplication	NM_020810.3(TRMT5):c.540dup (p.Lys181Ter)	not provided [RCV001989750]	uncertain significance	14	60979357	60979358	Human		name
151798510	CV1445782	single nucleotide variant	NM_020810.3(TRMT5):c.535C>G (p.His179Asp)	Inborn genetic diseases [RCV004970783]\|not provided [RCV002011347]	uncertain significance	14	60979363	60979363	Human	1	name
151801801	CV1458699	single nucleotide variant	NM_020810.3(TRMT5):c.641A>G (p.His214Arg)	not provided [RCV002028162]	uncertain significance	14	60979257	60979257	Human		name
151829874	CV1465572	single nucleotide variant	NM_020810.3(TRMT5):c.449C>T (p.Ser150Phe)	not provided [RCV002014208]	uncertain significance	14	60979449	60979449	Human		name
151788286	CV1488868	single nucleotide variant	NM_020810.3(TRMT5):c.358C>T (p.Arg120Cys)	Inborn genetic diseases [RCV003348739]\|not provided [RCV002010434]	uncertain significance	14	60979540	60979540	Human	1	name
151891741	CV1502947	single nucleotide variant	NM_020810.3(TRMT5):c.860C>T (p.Thr287Ile)	not provided [RCV001943480]	uncertain significance	14	60976059	60976059	Human		name
151752808	CV1508588	single nucleotide variant	NM_020810.3(TRMT5):c.658C>T (p.His220Tyr)	not provided [RCV001986468]	uncertain significance	14	60979240	60979240	Human		name
151888704	CV1517233	single nucleotide variant	NM_020810.3(TRMT5):c.501G>T (p.Gln167His)	not provided [RCV002038456]	uncertain significance	14	60979397	60979397	Human		name
153001821	CV1682703	single nucleotide variant	NM_020810.3(TRMT5):c.665T>C (p.Ile222Thr)	Combined oxidative phosphorylation defect type 26 [RCV002251783]\|not provided [RCV003094102]	pathogenic\|likely pathogenic\|uncertain significance	14	60979233	60979233	Human	1	name
155710297	CV1775795	single nucleotide variant	NM_020810.3(TRMT5):c.635G>C (p.Arg212Pro)	not provided [RCV002296169]	uncertain significance	14	60979263	60979263	Human		name
156394681	CV1931106	single nucleotide variant	NM_020810.3(TRMT5):c.328A>G (p.Met110Val)	not provided [RCV002654788]	uncertain significance	14	60979570	60979570	Human		name
156437015	CV1936843	single nucleotide variant	NM_020810.3(TRMT5):c.415A>C (p.Met139Leu)	not provided [RCV003106543]	uncertain significance	14	60979483	60979483	Human		name
155964665	CV1937780	single nucleotide variant	NM_020810.3(TRMT5):c.781A>G (p.Met261Val)	Inborn genetic diseases [RCV002754334]\|not provided [RCV003111784]	uncertain significance	14	60977525	60977525	Human	1	name
156446798	CV1948155	single nucleotide variant	NM_020810.3(TRMT5):c.667G>T (p.Gly223Cys)	not provided [RCV003118316]	uncertain significance	14	60979231	60979231	Human		name
156344964	CV1958128	single nucleotide variant	NM_020810.3(TRMT5):c.534A>T (p.Glu178Asp)	not provided [RCV002580715]	uncertain significance	14	60979364	60979364	Human		name
156415474	CV1958551	single nucleotide variant	NM_020810.3(TRMT5):c.617T>C (p.Ile206Thr)	not provided [RCV002589189]	uncertain significance	14	60979281	60979281	Human		name
156265044	CV1960826	single nucleotide variant	NM_020810.3(TRMT5):c.298A>G (p.Lys100Glu)	not provided [RCV002576976]	uncertain significance	14	60979600	60979600	Human		name
156382082	CV1960934	single nucleotide variant	NM_020810.3(TRMT5):c.796C>T (p.Arg266Ter)	not provided [RCV002583247]	uncertain significance	14	60976123	60976123	Human		name
156290063	CV1961443	single nucleotide variant	NM_020810.3(TRMT5):c.734A>G (p.Asn245Ser)	not provided [RCV002577793]	uncertain significance	14	60977572	60977572	Human		name
156108567	CV1963506	single nucleotide variant	NM_020810.3(TRMT5):c.742C>T (p.Arg248Ter)	not provided [RCV002571112]	uncertain significance	14	60977564	60977564	Human		name
155986632	CV1979624	single nucleotide variant	NM_020810.3(TRMT5):c.848C>T (p.Pro283Leu)	not provided [RCV002617835]	uncertain significance	14	60976071	60976071	Human		name
156391177	CV1990145	single nucleotide variant	NM_020810.3(TRMT5):c.797G>A (p.Arg266Gln)	not provided [RCV002604681]	uncertain significance	14	60976122	60976122	Human		name
156032006	CV2002438	single nucleotide variant	NM_020810.3(TRMT5):c.380T>C (p.Ile127Thr)	not provided [RCV002658698]	uncertain significance	14	60979518	60979518	Human		name
156099152	CV2009631	single nucleotide variant	NM_020810.3(TRMT5):c.878C>A (p.Thr293Lys)	not provided [RCV002706601]	uncertain significance	14	60976041	60976041	Human		name
156200698	CV2010889	single nucleotide variant	NM_020810.3(TRMT5):c.374G>A (p.Arg125His)	Inborn genetic diseases [RCV004966038]\|not provided [RCV002700269]	uncertain significance	14	60979524	60979524	Human	1	name
156314964	CV2017926	single nucleotide variant	NM_020810.3(TRMT5):c.461C>G (p.Ala154Gly)	not provided [RCV002671849]	uncertain significance	14	60979437	60979437	Human		name
156203007	CV2021312	single nucleotide variant	NM_020810.3(TRMT5):c.755T>C (p.Met252Thr)	not provided [RCV002711468]	uncertain significance	14	60977551	60977551	Human		name
156170918	CV2056804	single nucleotide variant	NM_020810.3(TRMT5):c.743G>T (p.Arg248Leu)	not provided [RCV002801949]	uncertain significance	14	60977563	60977563	Human		name
156220394	CV2104759	single nucleotide variant	NM_020810.3(TRMT5):c.446A>T (p.Asp149Val)	not provided [RCV002932433]	uncertain significance	14	60979452	60979452	Human		name
156211718	CV2114484	single nucleotide variant	NM_020810.3(TRMT5):c.466C>G (p.Leu156Val)	not provided [RCV002932088]	uncertain significance	14	60979432	60979432	Human		name
156379986	CV2117904	single nucleotide variant	NM_020810.3(TRMT5):c.425C>T (p.Pro142Leu)	not provided [RCV002943066]	uncertain significance	14	60979473	60979473	Human		name
156313266	CV2120158	single nucleotide variant	NM_020810.3(TRMT5):c.656A>G (p.Lys219Arg)	not provided [RCV002962743]	likely benign	14	60979242	60979242	Human		name
156017903	CV2121511	single nucleotide variant	NM_020810.3(TRMT5):c.550G>A (p.Glu184Lys)	not provided [RCV002948627]	uncertain significance	14	60979348	60979348	Human		name
155962227	CV2131960	single nucleotide variant	NM_020810.3(TRMT5):c.311A>G (p.Glu104Gly)	not provided [RCV002995213]	uncertain significance	14	60979587	60979587	Human		name
156042710	CV2146995	single nucleotide variant	NM_020810.3(TRMT5):c.616A>G (p.Ile206Val)	Inborn genetic diseases [RCV004068580]\|not provided [RCV003019120]	uncertain significance	14	60979282	60979282	Human	1	name
155908677	CV2156745	single nucleotide variant	NM_020810.3(TRMT5):c.946G>T (p.Val316Leu)	not provided [RCV003012093]	uncertain significance	14	60975973	60975973	Human		name
156299488	CV2159581	single nucleotide variant	NM_020810.3(TRMT5):c.835G>C (p.Val279Leu)	not provided [RCV003045482]	uncertain significance	14	60976084	60976084	Human		name
156139885	CV2162145	single nucleotide variant	NM_020810.3(TRMT5):c.728T>C (p.Ile243Thr)	not provided [RCV003022483]	uncertain significance	14	60977578	60977578	Human		name
156011513	CV2172264	single nucleotide variant	NM_020810.3(TRMT5):c.580C>T (p.Gln194Ter)	not provided [RCV003035266]	uncertain significance	14	60979318	60979318	Human		name
156400791	CV2217179	single nucleotide variant	NM_020810.3(TRMT5):c.640C>T (p.His214Tyr)	Inborn genetic diseases [RCV002656678]	uncertain significance	14	60979258	60979258	Human	1	name
156277431	CV2230732	single nucleotide variant	NM_020810.3(TRMT5):c.586G>A (p.Val196Ile)	Inborn genetic diseases [RCV002746883]	uncertain significance	14	60979312	60979312	Human	1	name
156356781	CV2257546	single nucleotide variant	NM_020810.3(TRMT5):c.356A>G (p.Gln119Arg)	Inborn genetic diseases [RCV002812211]	uncertain significance	14	60979542	60979542	Human	1	name
155989797	CV2258847	single nucleotide variant	NM_020810.3(TRMT5):c.584A>G (p.Asp195Gly)	Inborn genetic diseases [RCV002778447]	uncertain significance	14	60979314	60979314	Human	1	name
329356401	CV2460307	single nucleotide variant	NM_020810.3(TRMT5):c.497C>T (p.Pro166Leu)	Inborn genetic diseases [RCV003203259]	uncertain significance	14	60979401	60979401	Human	1	name
329363101	CV2464947	single nucleotide variant	NM_020810.3(TRMT5):c.611G>T (p.Gly204Val)	Inborn genetic diseases [RCV003206305]	uncertain significance	14	60979287	60979287	Human	1	name
401772702	CV2712867	single nucleotide variant	NM_020810.3(TRMT5):c.538T>C (p.Phe180Leu)	Inborn genetic diseases [RCV003261939]	uncertain significance	14	60979360	60979360	Human	1	name
401762172	CV2714041	single nucleotide variant	NM_020810.3(TRMT5):c.614A>G (p.His205Arg)	Inborn genetic diseases [RCV003257803]	uncertain significance	14	60979284	60979284	Human	1	name
405760043	CV3347550	single nucleotide variant	NM_020810.3(TRMT5):c.686A>G (p.Lys229Arg)	Inborn genetic diseases [RCV004468459]	uncertain significance	14	60977620	60977620	Human	1	name
405760049	CV3347551	single nucleotide variant	NM_020810.3(TRMT5):c.821T>G (p.Phe274Cys)	Inborn genetic diseases [RCV004468460]	uncertain significance	14	60976098	60976098	Human	1	name
407454292	CV3490886	single nucleotide variant	NM_020810.3(TRMT5):c.392A>T (p.Glu131Val)	Inborn genetic diseases [RCV004684988]	uncertain significance	14	60979506	60979506	Human	1	name
12738857	CV359152	single nucleotide variant	NM_020810.3(TRMT5):c.872G>A (p.Arg291His)	Combined oxidative phosphorylation defect type 26 [RCV000412658]\|not provided [RCV002523899]	pathogenic\|uncertain significance	14	60976047	60976047	Human	1	name
597625375	CV3621795	single nucleotide variant	NM_020810.3(TRMT5):c.349G>A (p.Ala117Thr)	Inborn genetic diseases [RCV004964525]	uncertain significance	14	60979549	60979549	Human	1	name
597625378	CV3621797	single nucleotide variant	NM_020810.3(TRMT5):c.961T>C (p.Cys321Arg)	Inborn genetic diseases [RCV004964527]	uncertain significance	14	60975958	60975958	Human	1	name
12849911	CV363884	single nucleotide variant	NM_020810.3(TRMT5):c.535C>A (p.His179Asn)	not provided [RCV000438330]	benign\|likely benign	14	60979363	60979363	Human		name
597849255	CV3746565	single nucleotide variant	NM_020810.3(TRMT5):c.901G>A (p.Val301Ile)	not provided [RCV005060384]	uncertain significance	14	60976018	60976018	Human		name
598214717	CV3931986	single nucleotide variant	NM_020810.3(TRMT5):c.931C>T (p.Pro311Ser)	Inborn genetic diseases [RCV005292584]	uncertain significance	14	60975988	60975988	Human	1	name
598214731	CV3931989	single nucleotide variant	NM_020810.3(TRMT5):c.736A>G (p.Met246Val)	Inborn genetic diseases [RCV005292587]	uncertain significance	14	60977570	60977570	Human	1	name
15143125	CV679842	single nucleotide variant	NM_020810.3(TRMT5):c.881A>C (p.Glu294Ala)	Combined oxidative phosphorylation defect type 26 [RCV001034692]\|not provided [RCV000899788]	likely benign\|uncertain significance	14	60976038	60976038	Human	1	name
15107400	CV714182	single nucleotide variant	NM_020810.3(TRMT5):c.469A>T (p.Ser157Cys)	TRMT5-related disorder [RCV003926120]\|not provided [RCV000960283]	benign\|likely benign	14	60979429	60979429	Human	1	name , trait , alternate_id
15125336	CV754100	single nucleotide variant	NM_020810.3(TRMT5):c.635G>A (p.Arg212Gln)	TRMT5-related disorder [RCV003950862]\|not provided [RCV000919137]	likely benign	14	60979263	60979263	Human	1	name , trait , alternate_id
150528688	CV1288445	single nucleotide variant	NM_020810.3(TRMT5):c.1054T>C (p.Phe352Leu)	not provided [RCV001726913]	uncertain significance	14	60975865	60975865	Human		name
151847295	CV1409543	single nucleotide variant	NM_020810.3(TRMT5):c.1282G>A (p.Ala428Thr)	not provided [RCV001882123]	uncertain significance	14	60975637	60975637	Human		name
151767763	CV1444343	single nucleotide variant	NM_020810.3(TRMT5):c.1333G>A (p.Ala445Thr)	not provided [RCV001949858]	uncertain significance	14	60975586	60975586	Human		name
151716848	CV1465001	single nucleotide variant	NM_020810.3(TRMT5):c.1247T>C (p.Val416Ala)	not provided [RCV002003056]	uncertain significance	14	60975672	60975672	Human		name
152104624	CV1574827	single nucleotide variant	NM_020810.3(TRMT5):c.1192G>A (p.Ala398Thr)	TRMT5-related disorder [RCV003951044]\|not provided [RCV002095987]	likely benign	14	60975727	60975727	Human	1	name , trait , alternate_id
152074192	CV1652647	single nucleotide variant	NM_020810.3(TRMT5):c.1459C>T (p.Pro487Ser)	Inborn genetic diseases [RCV003070643]\|not provided [RCV002148483]	likely benign\|uncertain significance	14	60975180	60975180	Human	1	name
152088031	CV1655542	single nucleotide variant	NM_020810.3(TRMT5):c.1150G>A (p.Val384Ile)	TRMT5-related disorder [RCV003971160]\|not provided [RCV002193906]	likely benign	14	60975769	60975769	Human	1	name , trait , alternate_id
155718945	CV1775550	single nucleotide variant	NM_020810.3(TRMT5):c.1171A>G (p.Lys391Glu)	not provided [RCV002301202]	uncertain significance	14	60975748	60975748	Human		name
156408772	CV1911762	single nucleotide variant	NM_020810.3(TRMT5):c.1177A>G (p.Ile393Val)	not provided [RCV002607344]	uncertain significance	14	60975742	60975742	Human		name
156409385	CV1922649	single nucleotide variant	NM_020810.3(TRMT5):c.1295G>A (p.Arg432Gln)	not provided [RCV002607541]	uncertain significance	14	60975624	60975624	Human		name
156438444	CV1947049	single nucleotide variant	NM_020810.3(TRMT5):c.1412C>T (p.Ser471Phe)	not provided [RCV003108387]	uncertain significance	14	60975507	60975507	Human		name
156420069	CV1979437	single nucleotide variant	NM_020810.3(TRMT5):c.1299A>C (p.Gln433His)	not provided [RCV002613320]	uncertain significance	14	60975620	60975620	Human		name
156415663	CV1987410	single nucleotide variant	NM_020810.3(TRMT5):c.1243A>G (p.Ile415Val)	not provided [RCV002609773]	uncertain significance	14	60975676	60975676	Human		name
156125074	CV1995294	single nucleotide variant	NM_020810.3(TRMT5):c.1456G>T (p.Asp486Tyr)	not provided [RCV002663004]	uncertain significance	14	60975183	60975183	Human		name
155905955	CV2007360	single nucleotide variant	NM_020810.3(TRMT5):c.1330G>A (p.Glu444Lys)	not provided [RCV002681394]	uncertain significance	14	60975589	60975589	Human		name
156123581	CV2012220	single nucleotide variant	NM_020810.3(TRMT5):c.1369C>A (p.Pro457Thr)	not provided [RCV002696132]	uncertain significance	14	60975550	60975550	Human		name
155990720	CV2026945	single nucleotide variant	NM_020810.3(TRMT5):c.1138C>T (p.Pro380Ser)	Inborn genetic diseases [RCV004966077]\|not provided [RCV002755738]	uncertain significance	14	60975781	60975781	Human	1	name
156237528	CV2047039	single nucleotide variant	NM_020810.3(TRMT5):c.1066G>A (p.Gly356Arg)	not provided [RCV002805552]	uncertain significance	14	60975853	60975853	Human		name
155941535	CV2055015	single nucleotide variant	NM_020810.3(TRMT5):c.1417C>T (p.Leu473Phe)	not provided [RCV002815728]	uncertain significance	14	60975502	60975502	Human		name
156157699	CV2063468	single nucleotide variant	NM_020810.3(TRMT5):c.1304C>T (p.Ala435Val)	not provided [RCV002851092]	uncertain significance	14	60975615	60975615	Human		name
156334025	CV2112958	single nucleotide variant	NM_020810.3(TRMT5):c.1421A>C (p.Tyr474Ser)	not provided [RCV002938526]	uncertain significance	14	60975498	60975498	Human		name
156393435	CV2120466	single nucleotide variant	NM_020810.3(TRMT5):c.1462C>T (p.Pro488Ser)	not provided [RCV002944157]	uncertain significance	14	60975177	60975177	Human		name
156095373	CV2152085	single nucleotide variant	NM_020810.3(TRMT5):c.1442C>G (p.Pro481Arg)	not provided [RCV003020843]	uncertain significance	14	60975477	60975477	Human		name
156092544	CV2167130	single nucleotide variant	NM_020810.3(TRMT5):c.1525A>G (p.Thr509Ala)	not provided [RCV003038270]	uncertain significance	14	60975114	60975114	Human		name
155998392	CV2168881	single nucleotide variant	NM_020810.3(TRMT5):c.1289A>C (p.Asp430Ala)	not provided [RCV003017158]	uncertain significance	14	60975630	60975630	Human		name
156066381	CV2170795	single nucleotide variant	NM_020810.3(TRMT5):c.1241C>A (p.Pro414His)	not provided [RCV003019902]	uncertain significance	14	60975678	60975678	Human		name
156398082	CV2187508	single nucleotide variant	NM_020810.3(TRMT5):c.1138C>A (p.Pro380Thr)	not provided [RCV003052055]	uncertain significance	14	60975781	60975781	Human		name
156367290	CV2190331	single nucleotide variant	NM_020810.3(TRMT5):c.1309G>A (p.Ala437Thr)	not provided [RCV003066035]	uncertain significance	14	60975610	60975610	Human		name
155934310	CV2225250	single nucleotide variant	NM_020810.3(TRMT5):c.1151T>C (p.Val384Ala)	Inborn genetic diseases [RCV002729217]	uncertain significance	14	60975768	60975768	Human	1	name
156193274	CV2251579	single nucleotide variant	NM_020810.3(TRMT5):c.1441C>G (p.Pro481Ala)	Inborn genetic diseases [RCV002802982]	uncertain significance	14	60975478	60975478	Human	1	name
156199746	CV2293831	single nucleotide variant	NM_020810.3(TRMT5):c.1313T>C (p.Val438Ala)	Inborn genetic diseases [RCV002874749]	uncertain significance	14	60975606	60975606	Human	1	name
329357139	CV2457554	single nucleotide variant	NM_020810.3(TRMT5):c.1457A>T (p.Asp486Val)	Inborn genetic diseases [RCV003203585]	uncertain significance	14	60975182	60975182	Human	1	name
405760030	CV3347548	single nucleotide variant	NM_020810.3(TRMT5):c.1180G>C (p.Glu394Gln)	Inborn genetic diseases [RCV004468457]	uncertain significance	14	60975739	60975739	Human	1	name
407454291	CV3490885	single nucleotide variant	NM_020810.3(TRMT5):c.1023A>T (p.Lys341Asn)	Inborn genetic diseases [RCV004684987]	uncertain significance	14	60975896	60975896	Human	1	name
407454293	CV3490887	single nucleotide variant	NM_020810.3(TRMT5):c.1241C>T (p.Pro414Leu)	Inborn genetic diseases [RCV004684989]	uncertain significance	14	60975678	60975678	Human	1	name
408367251	CV3507296	single nucleotide variant	NM_020810.3(TRMT5):c.1063G>T (p.Asp355Tyr)	TRMT5-related disorder [RCV004758305]	uncertain significance	14	60975856	60975856	Human		name , trait , alternate_id
12740631	CV359153	single nucleotide variant	NM_020810.3(TRMT5):c.1156A>G (p.Met386Val)	Combined oxidative phosphorylation defect type 26 [RCV000412548]	pathogenic	14	60975763	60975763	Human	1	name
597625372	CV3621793	single nucleotide variant	NM_020810.3(TRMT5):c.1189A>C (p.Ser397Arg)	Inborn genetic diseases [RCV004964523]	uncertain significance	14	60975730	60975730	Human	1	name
597625373	CV3621794	single nucleotide variant	NM_020810.3(TRMT5):c.1294C>T (p.Arg432Trp)	Inborn genetic diseases [RCV004964524]	uncertain significance	14	60975625	60975625	Human	1	name
597838615	CV3736925	single nucleotide variant	NM_020810.3(TRMT5):c.1004G>A (p.Trp335Ter)	not provided [RCV005064405]	uncertain significance	14	60975915	60975915	Human		name
598214722	CV3931987	single nucleotide variant	NM_020810.3(TRMT5):c.1082A>G (p.Gln361Arg)	Inborn genetic diseases [RCV005292585]	uncertain significance	14	60975837	60975837	Human	1	name
598214728	CV3931988	single nucleotide variant	NM_020810.3(TRMT5):c.1064A>G (p.Asp355Gly)	Inborn genetic diseases [RCV005292586]	uncertain significance	14	60975855	60975855	Human	1	name
598236445	CV3931990	single nucleotide variant	NM_020810.3(TRMT5):c.1334C>T (p.Ala445Val)	Inborn genetic diseases [RCV005296025]	uncertain significance	14	60975585	60975585	Human	1	name
15144443	CV679843	single nucleotide variant	NM_020810.3(TRMT5):c.1481C>T (p.Thr494Met)	Combined oxidative phosphorylation defect type 26 [RCV001034693]\|TRMT5-related disorder [RCV003955563]\|not provided [RCV000900005]	likely benign\|uncertain significance	14	60975158	60975158	Human	1	name , trait , alternate_id
26898564	CV679844	single nucleotide variant	NM_020810.3(TRMT5):c.1218G>C (p.Gln406His)	Combined oxidative phosphorylation defect type 26 [RCV001034694]	uncertain significance	14	60975701	60975701	Human	1	name
15101626	CV702931	single nucleotide variant	NM_020810.3(TRMT5):c.1450C>T (p.His484Tyr)	not provided [RCV000959130]	likely benign	14	60975189	60975189	Human		name
15108983	CV714181	single nucleotide variant	NM_020810.3(TRMT5):c.1225A>C (p.Ser409Arg)	not provided [RCV000960598]	benign	14	60975694	60975694	Human		name
15197185	CV725727	single nucleotide variant	NM_020810.3(TRMT5):c.1283C>T (p.Ala428Val)	TRMT5-related disorder [RCV003940656]\|not provided [RCV000889985]	likely benign	14	60975636	60975636	Human	1	name , trait , alternate_id
15161265	CV725728	single nucleotide variant	NM_020810.3(TRMT5):c.1099G>C (p.Glu367Gln)	TRMT5-related disorder [RCV003920544]\|not provided [RCV000881540]	benign	14	60975820	60975820	Human	1	name , trait , alternate_id
151810455	CV1359270	microsatellite	NM_020810.3(TRMT5):c.207_208del (p.Glu69fs)	not provided [RCV001991779]	uncertain significance	14	60979690	60979691	Human		name
156232004	CV2173079	microsatellite	NM_020810.3(TRMT5):c.118_119del (p.Gln40fs)	not provided [RCV003059342]	uncertain significance	14	60979779	60979780	Human		name
156126521	CV1993029	deletion	NM_020810.3(TRMT5):c.318_321del (p.Ser107fs)	not provided [RCV002623147]	uncertain significance	14	60979577	60979580	Human		name
12738801	CV359151	deletion	NM_020810.3(TRMT5):c.312_315del (p.Ile105fs)	Combined oxidative phosphorylation defect type 26 [RCV000412579]\|TRMT5-related disorder [RCV004758007]\|not provided [RCV000513771]\|not specified [RCV004525925]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	14	60979583	60979586	Human	1	name , trait , alternate_id
156173713	CV2181317	deletion	NM_020810.3(TRMT5):c.414_416del (p.Ile138del)	not provided [RCV003057301]	uncertain significance	14	60979482	60979484	Human		name
156317235	CV1975098	deletion	NM_020810.3(TRMT5):c.1090_1093del (p.Val364fs)	not provided [RCV002630132]	uncertain significance	14	60975826	60975829	Human		name
156053738	CV1935025	indel	NM_020810.3(TRMT5):c.267_270delinsCTG (p.Ala89_Phe90insTer)	Combined oxidative phosphorylation defect type 26 [RCV002510311]	likely pathogenic	14	60979628	60979631	Human		name
156279660	CV2053765	insertion	NM_020810.3(TRMT5):c.323_324insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAATAGTCAGTAA (p.Lys108_Leu109insAlaGlyArgGlyGlySerArgLeuTer)	not provided [RCV002806946]	uncertain significance	14	60979574	60979575	Human		name

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