Trmu Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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788 records found for search term Trmu

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8556094	CV16331	single nucleotide variant	TRMU, IVS3AS, G-A, -1	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000001355]	pathogenic				Human		name
8691460	CV141420	single nucleotide variant	NM_018006.5(TRMU):c.*8G>C	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000404167]\|not provided [RCV000676764]\|not specified [RCV000125607]	benign\|uncertain significance	22	46357014	46357014	Human	1	name
13836617	CV587894	single nucleotide variant	NM_018006.5(TRMU):c.-9G>A	not provided [RCV000732792]	uncertain significance	22	46335756	46335756	Human		name
151235870	CV1319297	single nucleotide variant	NM_018006.5(TRMU):c.*43T>C	not provided [RCV001797242]	likely benign	22	46357049	46357049	Human		name
405263545	CV3189773	single nucleotide variant	NM_018006.5(TRMU):c.-51A>C	TRMU-related disorder [RCV003896822]	likely benign	22	46335714	46335714	Human		name , trait , alternate_id
11626531	CV348068	single nucleotide variant	NM_018006.5(TRMU):c.-44G>A	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000265076]\|not specified [RCV000604435]	benign\|likely benign\|uncertain significance	22	46335721	46335721	Human	1	name
11629270	CV348069	single nucleotide variant	NM_018006.5(TRMU):c.-35G>A	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000319954]\|TRMU-related disorder [RCV003897779]	uncertain significance	22	46335730	46335730	Human	1	name , trait , alternate_id
11627446	CV348079	single nucleotide variant	NM_018006.5(TRMU):c.*43T>G	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000282219]\|not provided [RCV001683364]	benign	22	46357049	46357049	Human	1	name
11630796	CV352642	single nucleotide variant	NM_018006.4(TRMU):c.-87T>C	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000359794]\|not provided [RCV001590996]	likely benign\|uncertain significance	22	46335678	46335678	Human	1	name
11661228	CV352643	single nucleotide variant	NM_018006.5(TRMU):c.-19G>C	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000374623]\|TRMU-related disorder [RCV003922497]\|not specified [RCV000615506]	likely benign\|uncertain significance	22	46335746	46335746	Human	1	name , trait , alternate_id
11626296	CV352644	single nucleotide variant	NM_018006.5(TRMU):c.-15T>C	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000261451]\|not specified [RCV000604395]	likely benign\|uncertain significance	22	46335750	46335750	Human	1	name
11629970	CV352648	single nucleotide variant	NM_018006.5(TRMU):c.*51C>T	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000337366]	likely benign\|uncertain significance	22	46357057	46357057	Human	1	name
12832997	CV378834	single nucleotide variant	NM_018006.5(TRMU):c.-36C>G	not provided [RCV004703958]\|not specified [RCV000417651]	likely benign	22	46335729	46335729	Human		name
14736083	CV656703	single nucleotide variant	NM_018006.5(TRMU):c.-26A>C	not provided [RCV000838306]	likely benign	22	46335739	46335739	Human		name
14741337	CV656704	single nucleotide variant	NM_018006.5(TRMU):c.-25G>A	not provided [RCV000840740]	likely benign	22	46335740	46335740	Human		name
28869206	CV891435	single nucleotide variant	NM_018006.5(TRMU):c.*28G>A	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001144831]	uncertain significance	22	46357034	46357034	Human	1	name
127239906	CV1107764	single nucleotide variant	NM_018006.5(TRMU):c.83-8G>A	not provided [RCV001423206]	likely benign	22	46337771	46337771	Human		name
151775003	CV1424215	single nucleotide variant	NM_018006.5(TRMU):c.83-2A>C	not provided [RCV002025725]	likely pathogenic	22	46337777	46337777	Human		name
152152487	CV1664500	single nucleotide variant	NM_018006.5(TRMU):c.82+9T>C	not provided [RCV002158398]	likely benign	22	46335855	46335855	Human		name
155916233	CV2156068	single nucleotide variant	NM_018006.5(TRMU):c.82+5G>A	not provided [RCV002991671]	uncertain significance	22	46335851	46335851	Human		name
11639815	CV265962	single nucleotide variant	NM_018006.5(TRMU):c.82+3G>A	not provided [RCV000326414]	uncertain significance	22	46335849	46335849	Human		name
11625780	CV338448	single nucleotide variant	NM_018006.4(TRMU):c.-312G>A	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000403120]	uncertain significance	22	46335453	46335453	Human	1	name
11621686	CV338450	single nucleotide variant	NM_018006.4(TRMU):c.-279G>A	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000351468]\|not provided [RCV004694687]	uncertain significance	22	46335486	46335486	Human	1	name
11618160	CV338451	single nucleotide variant	NM_018006.4(TRMU):c.-178G>A	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000311071]\|not provided [RCV000830902]	benign\|likely benign	22	46335587	46335587	Human	1	name
11617731	CV338452	single nucleotide variant	NM_018006.5(TRMU):c.-147C>A	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000307429]\|Aminoglycoside-induced deafness [RCV002504147]\|not provided [RCV004694688]	uncertain significance	22	46335618	46335618	Human	2	name
11622575	CV338459	single nucleotide variant	NM_018006.4(TRMU):c.-128A>G	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000362177]\|not provided [RCV001570106]	likely benign	22	46335637	46335637	Human	1	name
11617501	CV338463	single nucleotide variant	NM_018006.4(TRMU):c.-113G>C	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000304928]	uncertain significance	22	46335652	46335652	Human	1	name
11618170	CV338476	single nucleotide variant	NM_018006.5(TRMU):c.*210G>C	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000311150]\|not provided [RCV001558912]	benign\|likely benign	22	46357216	46357216	Human	1	name
11628159	CV348064	single nucleotide variant	NM_018006.4(TRMU):c.-281G>A	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000296555]\|not provided [RCV004694686]	uncertain significance	22	46335484	46335484	Human	1	name
11631235	CV348082	single nucleotide variant	NM_018006.5(TRMU):c.*149G>A	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000371120]	uncertain significance	22	46357155	46357155	Human	1	name
11626881	CV348087	single nucleotide variant	NM_018006.5(TRMU):c.*276G>A	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000271191]\|not provided [RCV001594977]	benign	22	46357282	46357282	Human	1	name
11626725	CV351775	single nucleotide variant	NM_018006.4(TRMU):c.-117G>C	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000268531]\|not provided [RCV000830903]	benign\|likely benign	22	46335648	46335648	Human	1	name
11632028	CV351787	single nucleotide variant	NM_018006.5(TRMU):c.*151C>T	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000396403]\|not provided [RCV001712074]	benign\|likely benign	22	46357157	46357157	Human	1	name
11631962	CV352639	single nucleotide variant	NM_018006.4(TRMU):c.-190A>T	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000394619]	uncertain significance	22	46335575	46335575	Human	1	name
11660285	CV352640	single nucleotide variant	NM_018006.4(TRMU):c.-161A>C	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000365716]	uncertain significance	22	46335604	46335604	Human	1	name
11663291	CV352641	single nucleotide variant	NM_018006.4(TRMU):c.-151G>A	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000394611]	uncertain significance	22	46335614	46335614	Human	1	name
11632027	CV352649	single nucleotide variant	NM_018006.5(TRMU):c.*113G>A	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000396397]	uncertain significance	22	46357119	46357119	Human	1	name
11628215	CV352650	single nucleotide variant	NM_018006.5(TRMU):c.*124G>C	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000297669]\|not provided [RCV001551199]	benign\|likely benign	22	46357130	46357130	Human	1	name
12906955	CV415719	single nucleotide variant	NM_018006.5(TRMU):c.82+5G>C	not provided [RCV000489852]\|not specified [RCV002222529]	likely pathogenic\|uncertain significance	22	46335851	46335851	Human		name
13524019	CV489581	single nucleotide variant	NM_018006.5(TRMU):c.83-4G>A	not provided [RCV000593728]	conflicting interpretations of pathogenicity\|uncertain significance	22	46337775	46337775	Human		name
14709656	CV653340	single nucleotide variant	NM_018006.5(TRMU):c.83-2A>G	Aminoglycoside-induced deafness [RCV003472415]\|Aminoglycoside-induced deafness [RCV005029497]\|not provided [RCV000812452]	likely pathogenic	22	46337777	46337777	Human	1	name
15145411	CV776754	single nucleotide variant	NM_018006.5(TRMU):c.82+8G>A	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001277294]\|not provided [RCV000944581]	likely benign\|uncertain significance	22	46335854	46335854	Human	1	name
15130485	CV788096	single nucleotide variant	NM_018006.5(TRMU):c.83-5C>T	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001277295]\|not provided [RCV000981052]	likely benign\|uncertain significance	22	46337774	46337774	Human	1	name
28869209	CV891436	single nucleotide variant	NM_018006.5(TRMU):c.*105A>G	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001144832]	uncertain significance	22	46357111	46357111	Human	1	name
28873503	CV891437	single nucleotide variant	NM_018006.5(TRMU):c.*320A>G	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001146792]	uncertain significance	22	46357326	46357326	Human	1	name
40905611	CV980058	single nucleotide variant	NM_018006.5(TRMU):c.83-9C>T	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001278846]\|not provided [RCV001458728]	likely benign\|uncertain significance	22	46337770	46337770	Human	1	name
127251063	CV1056687	single nucleotide variant	NM_018006.5(TRMU):c.249-2A>G	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001826140]\|Aminoglycoside-induced deafness [RCV002499781]\|Aminoglycoside-induced deafness [RCV003473909]\|not provided [RCV001378485]	likely pathogenic	22	46343260	46343260	Human	2	name
127250811	CV1056688	single nucleotide variant	NM_018006.5(TRMU):c.772+2T>G	Aminoglycoside-induced deafness [RCV003473908]\|Aminoglycoside-induced deafness [RCV005038167]\|not provided [RCV001378434]	likely pathogenic	22	46352332	46352332	Human	1	name
127272351	CV1065052	single nucleotide variant	NM_018006.5(TRMU):c.706-1G>A	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001801250]\|not provided [RCV001390441]	pathogenic	22	46352263	46352263	Human	1	name
127244835	CV1086050	single nucleotide variant	NM_018006.5(TRMU):c.705+8C>G	not provided [RCV001398622]	likely benign	22	46352182	46352182	Human		name
127259153	CV1107766	single nucleotide variant	NM_018006.5(TRMU):c.355+7A>C	not provided [RCV001438306]	likely benign	22	46343375	46343375	Human		name
127292045	CV1129174	single nucleotide variant	NM_018006.5(TRMU):c.83-10C>G	TRMU-related disorder [RCV004754760]\|not provided [RCV001458887]	likely benign	22	46337769	46337769	Human	1	name , trait , alternate_id
127307894	CV1129183	single nucleotide variant	NM_018006.5(TRMU):c.874-9A>G	not provided [RCV001463192]	likely benign	22	46355435	46355435	Human		name
127318838	CV1150167	single nucleotide variant	NM_018006.5(TRMU):c.478+9A>G	not provided [RCV001483636]	likely benign	22	46346553	46346553	Human		name
127322759	CV1150169	single nucleotide variant	NM_018006.5(TRMU):c.705+7G>C	not provided [RCV001505214]	likely benign	22	46352181	46352181	Human		name
127317623	CV1150170	single nucleotide variant	NM_018006.5(TRMU):c.772+9C>G	not provided [RCV001483202]	likely benign	22	46352339	46352339	Human		name
150443876	CV1205187	single nucleotide variant	NM_018006.5(TRMU):c.82+26C>G	not provided [RCV001584030]	likely benign	22	46335872	46335872	Human		name
150489987	CV1250949	single nucleotide variant	NM_018006.5(TRMU):c.82+48G>A	not provided [RCV001674616]	benign	22	46335894	46335894	Human		name
150500217	CV1256055	single nucleotide variant	NM_018006.5(TRMU):c.82+28G>C	not provided [RCV001676678]	benign	22	46335874	46335874	Human		name
150463266	CV1263781	duplication	NM_018006.5(TRMU):c.82+27dup	not provided [RCV001682482]	benign	22	46335867	46335868	Human		name
151881866	CV1413907	single nucleotide variant	NM_018006.5(TRMU):c.355+1G>C	Aminoglycoside-induced deafness [RCV003475283]\|not provided [RCV002020300]	likely pathogenic	22	46343369	46343369	Human	1	name
8691461	CV141421	single nucleotide variant	NM_018006.5(TRMU):c.83-19T>C	not provided [RCV002055586]\|not specified [RCV000125608]	benign	22	46337760	46337760	Human		name
151826172	CV1425838	single nucleotide variant	NM_018006.5(TRMU):c.706-1G>C	not provided [RCV001993254]	pathogenic	22	46352263	46352263	Human		name
151884223	CV1452592	single nucleotide variant	NM_018006.5(TRMU):c.355+1G>A	not provided [RCV002037506]	likely pathogenic	22	46343369	46343369	Human		name
152100857	CV1568363	single nucleotide variant	NM_018006.5(TRMU):c.773-8T>G	not provided [RCV002115323]	likely benign	22	46353759	46353759	Human		name
152151119	CV1598230	single nucleotide variant	NM_018006.5(TRMU):c.479-5G>C	not provided [RCV002121757]	likely benign	22	46350286	46350286	Human		name
152045451	CV1600137	single nucleotide variant	NM_018006.5(TRMU):c.773-6C>T	not provided [RCV002088499]	likely benign	22	46353761	46353761	Human		name
152130442	CV1630965	single nucleotide variant	NM_018006.5(TRMU):c.249-4C>G	not provided [RCV002119018]	likely benign	22	46343258	46343258	Human		name
152063368	CV1644716	duplication	NM_018006.5(TRMU):c.652-4dup	TRMU-related disorder [RCV003984214]\|not provided [RCV002147056]	likely benign	22	46352114	46352115	Human	1	name , trait , alternate_id
152147088	CV1649676	single nucleotide variant	NM_018006.5(TRMU):c.705+8C>T	not provided [RCV002121216]	likely benign	22	46352182	46352182	Human		name
152140019	CV1660769	single nucleotide variant	NM_018006.5(TRMU):c.356-8C>T	not provided [RCV002120234]	likely benign	22	46346414	46346414	Human		name
152980660	CV1676043	duplication	NM_018006.5(TRMU):c.249-2dup	not provided [RCV002245112]	uncertain significance	22	46343259	46343260	Human		name
155266543	CV1699112	single nucleotide variant	NM_018006.5(TRMU):c.873+1G>C	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV002282907]	likely pathogenic	22	46353868	46353868	Human	1	name
155796397	CV1861827	single nucleotide variant	NM_018006.5(TRMU):c.773-1G>C	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV002470109]	likely pathogenic	22	46353766	46353766	Human	1	name
156327645	CV1887410	single nucleotide variant	NM_018006.5(TRMU):c.248+8C>T	not provided [RCV003089593]	likely benign	22	46337952	46337952	Human		name
156309122	CV1928206	single nucleotide variant	NM_018006.5(TRMU):c.651+4C>T	not provided [RCV002648051]	uncertain significance	22	46350467	46350467	Human		name
156437716	CV1947729	single nucleotide variant	NM_018006.5(TRMU):c.478+9A>C	not provided [RCV003107258]	likely benign	22	46346553	46346553	Human		name
156108751	CV1964683	single nucleotide variant	NM_018006.5(TRMU):c.705+7G>A	not provided [RCV002592691]	likely benign	22	46352181	46352181	Human		name
156146658	CV1970732	single nucleotide variant	NM_018006.5(TRMU):c.873+8G>A	not provided [RCV002594013]	likely benign	22	46353875	46353875	Human		name
156189279	CV2052334	single nucleotide variant	NM_018006.5(TRMU):c.874-2A>G	Aminoglycoside-induced deafness [RCV003475429]\|not provided [RCV002828558]	likely pathogenic	22	46355442	46355442	Human	1	name
156105096	CV2061174	single nucleotide variant	NM_018006.5(TRMU):c.705+1G>T	not provided [RCV002824697]	likely pathogenic	22	46352175	46352175	Human		name
156112784	CV2069260	single nucleotide variant	NM_018006.5(TRMU):c.772+7T>G	not provided [RCV002870963]	likely benign	22	46352337	46352337	Human		name
156317435	CV2140428	single nucleotide variant	NM_018006.5(TRMU):c.651+1G>T	not provided [RCV003011474]	likely pathogenic	22	46350464	46350464	Human		name
156115570	CV2182895	single nucleotide variant	NM_018006.5(TRMU):c.248+7G>A	not provided [RCV003039111]	likely benign	22	46337951	46337951	Human		name
156325395	CV2184263	single nucleotide variant	NM_018006.5(TRMU):c.479-4G>A	not provided [RCV003046903]	likely benign	22	46350287	46350287	Human		name
11642292	CV270589	single nucleotide variant	NM_018006.5(TRMU):c.772+8G>A	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001828228]\|TRMU-related disorder [RCV003957455]\|not provided [RCV000725833]\|not specified [RCV000371305]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	46352338	46352338	Human	1	name , trait , alternate_id
401868128	CV2749223	single nucleotide variant	NM_018006.5(TRMU):c.652-2A>G	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV003332050]\|Aminoglycoside-induced deafness [RCV003475564]	likely pathogenic	22	46352119	46352119	Human	2	name
401912816	CV2801431	single nucleotide variant	NM_018006.5(TRMU):c.248+1G>A	TRMU-related disorder [RCV003399981]\|not provided [RCV003553906]	pathogenic\|likely pathogenic	22	46337945	46337945	Human	1	name , trait , alternate_id
401949329	CV2836849	single nucleotide variant	NM_018006.5(TRMU):c.355+1G>T	Aminoglycoside-induced deafness [RCV003474164]\|not provided [RCV003669434]	likely pathogenic	22	46343369	46343369	Human	1	name
401949331	CV2836851	single nucleotide variant	NM_018006.5(TRMU):c.873+2T>G	Aminoglycoside-induced deafness [RCV003474166]	likely pathogenic	22	46353869	46353869	Human	1	name
401949332	CV2836852	single nucleotide variant	NM_018006.5(TRMU):c.706-2A>G	Aminoglycoside-induced deafness [RCV003474167]	likely pathogenic	22	46352262	46352262	Human	1	name
401949346	CV2836866	deletion	NM_018006.5(TRMU):c.356-2del	Aminoglycoside-induced deafness [RCV003474181]	likely pathogenic	22	46346420	46346420	Human	1	name
401949352	CV2836872	single nucleotide variant	NM_018006.5(TRMU):c.874-1G>C	Aminoglycoside-induced deafness [RCV003474187]	likely pathogenic	22	46355443	46355443	Human	1	name
401949353	CV2836873	single nucleotide variant	NM_018006.5(TRMU):c.248+1G>T	Aminoglycoside-induced deafness [RCV003474188]	likely pathogenic	22	46337945	46337945	Human	1	name
401949354	CV2836874	single nucleotide variant	NM_018006.5(TRMU):c.249-2A>C	Aminoglycoside-induced deafness [RCV003474189]	likely pathogenic	22	46343260	46343260	Human	1	name
405165477	CV2905888	single nucleotide variant	NM_018006.5(TRMU):c.874-6C>T	not provided [RCV003562706]	likely benign	22	46355438	46355438	Human		name
405248134	CV2976970	single nucleotide variant	NM_018006.5(TRMU):c.83-19T>A	not provided [RCV003685813]	likely benign	22	46337760	46337760	Human		name
402488761	CV2995615	single nucleotide variant	NM_018006.5(TRMU):c.82+14G>A	not provided [RCV003687326]	likely benign	22	46335860	46335860	Human		name
404994176	CV2996043	single nucleotide variant	NM_018006.5(TRMU):c.479-9T>C	not provided [RCV003692578]	likely benign	22	46350282	46350282	Human		name
405136813	CV3028653	single nucleotide variant	NM_018006.5(TRMU):c.706-4C>T	not provided [RCV003702117]	likely benign	22	46352260	46352260	Human		name
402511473	CV3042567	deletion	NM_018006.5(TRMU):c.82+15del	not provided [RCV003715662]	likely benign	22	46335860	46335860	Human		name
405143583	CV3056168	single nucleotide variant	NM_018006.5(TRMU):c.82+15G>A	not provided [RCV003725861]	likely benign	22	46335861	46335861	Human		name
405166528	CV3059702	single nucleotide variant	NM_018006.5(TRMU):c.82+12G>A	not provided [RCV003727493]	likely benign	22	46335858	46335858	Human		name
405191452	CV3069969	single nucleotide variant	NM_018006.5(TRMU):c.82+20C>T	not provided [RCV003729757]	likely benign	22	46335866	46335866	Human		name
405230855	CV3073306	single nucleotide variant	NM_018006.5(TRMU):c.83-15C>A	not provided [RCV003734828]	likely benign	22	46337764	46337764	Human		name
405131611	CV3133475	single nucleotide variant	NM_018006.5(TRMU):c.873+7G>T	not provided [RCV003838445]	likely benign	22	46353874	46353874	Human		name
405063037	CV3139612	single nucleotide variant	NM_018006.5(TRMU):c.83-18T>G	not provided [RCV003832959]	likely benign	22	46337761	46337761	Human		name
405238360	CV3165428	single nucleotide variant	NM_018006.5(TRMU):c.83-17G>C	not provided [RCV003866630]	likely benign	22	46337762	46337762	Human		name
404978850	CV3175920	single nucleotide variant	NM_018006.5(TRMU):c.83-15C>T	not provided [RCV003880020]	likely benign	22	46337764	46337764	Human		name
405240800	CV3176810	single nucleotide variant	NM_018006.5(TRMU):c.82+18C>G	not provided [RCV003867248]	likely benign	22	46335864	46335864	Human		name
405262670	CV3189378	single nucleotide variant	NM_018006.5(TRMU):c.874-4G>T	TRMU-related disorder [RCV003896612]	likely benign	22	46355440	46355440	Human		name , trait , alternate_id
405869950	CV3399624	single nucleotide variant	NM_018006.5(TRMU):c.479-1G>A	Aminoglycoside-induced deafness [RCV004573769]	likely pathogenic	22	46350290	46350290	Human	1	name
408384916	CV3506516	single nucleotide variant	NM_018006.5(TRMU):c.773-2A>G	Aminoglycoside-induced deafness [RCV005023664]\|TRMU-related disorder [RCV004732225]	likely pathogenic	22	46353765	46353765	Human	2	name , trait , alternate_id
12845678	CV377568	single nucleotide variant	NM_018006.5(TRMU):c.83-11C>A	not provided [RCV003736769]\|not specified [RCV000440257]	likely benign	22	46337768	46337768	Human		name
597925255	CV3808747	single nucleotide variant	NM_018006.5(TRMU):c.82+14G>C	not provided [RCV005156261]	likely benign	22	46335860	46335860	Human		name
13522726	CV489155	single nucleotide variant	NM_018006.5(TRMU):c.479-3C>T	not provided [RCV000592103]	uncertain significance	22	46350288	46350288	Human		name
13515669	CV490253	single nucleotide variant	NM_018006.5(TRMU):c.651+9G>A	not provided [RCV000594580]	conflicting interpretations of pathogenicity\|uncertain significance	22	46350472	46350472	Human		name
13835124	CV586380	single nucleotide variant	NM_018006.5(TRMU):c.651+5G>A	not provided [RCV000730835]	uncertain significance	22	46350468	46350468	Human		name
13835174	CV586431	single nucleotide variant	NM_018006.5(TRMU):c.705+5G>A	TRMU-related disorder [RCV004754544]\|not provided [RCV000730896]	uncertain significance	22	46352179	46352179	Human	1	name , trait , alternate_id
13835915	CV587178	single nucleotide variant	NM_018006.5(TRMU):c.705+4C>T	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001144727]\|not provided [RCV000731837]	uncertain significance	22	46352178	46352178	Human	1	name
14704214	CV653265	single nucleotide variant	NM_018006.5(TRMU):c.478+1G>A	Aminoglycoside-induced deafness [RCV003472348]\|not provided [RCV000796824]	likely pathogenic	22	46346545	46346545	Human	1	name
15131868	CV745456	single nucleotide variant	NM_018006.5(TRMU):c.651+8T>C	not provided [RCV000897853]	likely benign	22	46350471	46350471	Human		name
15179166	CV776834	single nucleotide variant	NM_018006.5(TRMU):c.248+9G>A	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001273735]\|not provided [RCV000929574]	likely benign	22	46337953	46337953	Human	1	name
15142592	CV776858	single nucleotide variant	NM_018006.5(TRMU):c.82+10C>T	not provided [RCV000944102]	likely benign	22	46335856	46335856	Human		name
15184210	CV776958	single nucleotide variant	NM_018006.5(TRMU):c.355+7A>G	not provided [RCV000930758]	likely benign	22	46343375	46343375	Human		name
28905045	CV891852	single nucleotide variant	NM_018006.5(TRMU):c.773-4G>A	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001144729]\|TRMU-related disorder [RCV003945864]\|not provided [RCV001427483]	likely benign\|uncertain significance	22	46353763	46353763	Human	1	name , trait , alternate_id
38471038	CV940535	single nucleotide variant	NM_018006.5(TRMU):c.355+2T>C	not provided [RCV001210347]	likely pathogenic	22	46343370	46343370	Human		name
127277949	CV1107767	single nucleotide variant	NM_018006.5(TRMU):c.478+10T>C	not provided [RCV001444700]	likely benign	22	46346554	46346554	Human		name
127263071	CV1107774	single nucleotide variant	NM_018006.5(TRMU):c.1101+8G>C	not provided [RCV001439201]	likely benign	22	46356080	46356080	Human		name
127236726	CV1107775	single nucleotide variant	NM_018006.5(TRMU):c.1102-7C>T	not provided [RCV001433401]	likely benign	22	46356835	46356835	Human		name
127336323	CV1129186	single nucleotide variant	NM_018006.5(TRMU):c.1102-5T>G	not provided [RCV001474886]	likely benign	22	46356837	46356837	Human		name
127286681	CV1150171	single nucleotide variant	NM_018006.5(TRMU):c.874-10C>T	not provided [RCV001494513]	likely benign	22	46355434	46355434	Human		name
127314343	CV1150173	single nucleotide variant	NM_018006.5(TRMU):c.1101+8G>A	not provided [RCV001482200]	likely benign	22	46356080	46356080	Human		name
127322279	CV1150174	single nucleotide variant	NM_018006.5(TRMU):c.1102-8C>T	not provided [RCV001505057]	likely benign	22	46356834	46356834	Human		name
150332634	CV1173507	single nucleotide variant	NM_018006.5(TRMU):c.773-30C>T	not provided [RCV001539130]	benign	22	46353737	46353737	Human		name
150425546	CV1185695	single nucleotide variant	NM_018006.5(TRMU):c.248+47C>G	not provided [RCV001558145]	likely benign	22	46337991	46337991	Human		name
150423650	CV1185696	single nucleotide variant	NM_018006.5(TRMU):c.355+58C>A	not provided [RCV001555615]	likely benign	22	46343426	46343426	Human		name
150427600	CV1189006	single nucleotide variant	NM_018006.5(TRMU):c.249-95G>A	not provided [RCV001561137]	likely benign	22	46343167	46343167	Human		name
150426358	CV1189007	single nucleotide variant	NM_018006.5(TRMU):c.651+47G>A	not provided [RCV001559476]	likely benign	22	46350510	46350510	Human		name
150404973	CV1192406	single nucleotide variant	NM_018006.5(TRMU):c.248+54G>C	not provided [RCV001564072]	likely benign	22	46337998	46337998	Human		name
150499686	CV1209122	single nucleotide variant	NM_018006.5(TRMU):c.651+87C>T	not provided [RCV001594340]	likely benign	22	46350550	46350550	Human		name
150445507	CV1233190	single nucleotide variant	NM_018006.5(TRMU):c.874-55C>T	not provided [RCV001645863]	benign	22	46355389	46355389	Human		name
150445936	CV1233261	single nucleotide variant	NM_018006.5(TRMU):c.706-24G>A	not provided [RCV001645934]	benign	22	46352240	46352240	Human		name
150492988	CV1238581	single nucleotide variant	NM_018006.5(TRMU):c.478+45T>G	not provided [RCV001655125]	benign	22	46346589	46346589	Human		name
150464838	CV1241386	single nucleotide variant	NM_018006.5(TRMU):c.82+130T>C	not provided [RCV001649897]	benign	22	46335976	46335976	Human		name
150478093	CV1281831	single nucleotide variant	NM_018006.5(TRMU):c.82+231C>T	not provided [RCV001714235]	benign	22	46336077	46336077	Human		name
150493630	CV1282104	single nucleotide variant	NM_018006.5(TRMU):c.651+59C>A	not provided [RCV001717047]	benign	22	46350522	46350522	Human		name
150493707	CV1282158	deletion	NM_018006.5(TRMU):c.249-48del	not provided [RCV001717062]	benign	22	46343200	46343200	Human		name
150521232	CV1290993	duplication	NM_018006.5(TRMU):c.249-48dup	not provided [RCV001732599]	likely benign	22	46343199	46343200	Human		name
8691455	CV141415	single nucleotide variant	NM_018006.5(TRMU):c.652-16C>T	not provided [RCV001812054]\|not specified [RCV000125602]	benign	22	46352105	46352105	Human		name
151825865	CV1453083	single nucleotide variant	NM_018006.5(TRMU):c.1019-1G>A	Aminoglycoside-induced deafness [RCV002482408]\|Aminoglycoside-induced deafness [RCV004571129]\|not provided [RCV002050245]	likely pathogenic	22	46355989	46355989	Human	1	name
152114277	CV1534504	single nucleotide variant	NM_018006.5(TRMU):c.705+16T>C	not provided [RCV002097259]	likely benign	22	46352190	46352190	Human		name
152085500	CV1573732	single nucleotide variant	NM_018006.5(TRMU):c.1101+9G>A	not provided [RCV002149870]	likely benign	22	46356081	46356081	Human		name
152120519	CV1576211	single nucleotide variant	NM_018006.5(TRMU):c.652-10C>T	not provided [RCV002197987]	likely benign	22	46352111	46352111	Human		name
152068311	CV1589004	single nucleotide variant	NM_018006.5(TRMU):c.1019-8C>G	not provided [RCV002209646]	likely benign	22	46355982	46355982	Human		name
152171090	CV1612789	duplication	NM_018006.5(TRMU):c.1101+6dup	not provided [RCV002183381]	likely benign	22	46356077	46356078	Human		name
152153903	CV1643504	single nucleotide variant	NM_018006.5(TRMU):c.1019-8C>T	not provided [RCV002122148]	likely benign	22	46355982	46355982	Human		name
152093153	CV1648578	single nucleotide variant	NM_018006.5(TRMU):c.1019-4C>G	not provided [RCV002077985]	likely benign	22	46355986	46355986	Human		name
156330599	CV1877443	single nucleotide variant	NM_018006.5(TRMU):c.478+17A>G	not provided [RCV003063673]	likely benign	22	46346561	46346561	Human		name
156196123	CV1900766	single nucleotide variant	NM_018006.5(TRMU):c.248+17G>A	not provided [RCV002574578]	likely benign	22	46337961	46337961	Human		name
156414731	CV1909151	single nucleotide variant	NM_018006.5(TRMU):c.478+14C>G	not provided [RCV002588775]	likely benign	22	46346558	46346558	Human		name
156442058	CV1941727	single nucleotide variant	NM_018006.5(TRMU):c.1101+9G>C	not provided [RCV003112395]	likely benign	22	46356081	46356081	Human		name
156026661	CV2004622	single nucleotide variant	NM_018006.5(TRMU):c.1102-4A>G	not provided [RCV002658484]	likely benign	22	46356838	46356838	Human		name
156215435	CV2070630	single nucleotide variant	NM_018006.5(TRMU):c.1018+1G>A	not provided [RCV002829475]	likely pathogenic	22	46355589	46355589	Human		name
155970350	CV2079178	single nucleotide variant	NM_018006.5(TRMU):c.355+10T>C	not provided [RCV002881456]	likely benign	22	46343378	46343378	Human		name
155937536	CV2125818	single nucleotide variant	NM_018006.5(TRMU):c.773-10C>T	not provided [RCV002971057]	likely benign	22	46353757	46353757	Human		name
401949342	CV2836862	single nucleotide variant	NM_018006.5(TRMU):c.1101+1G>A	Aminoglycoside-induced deafness [RCV003474177]	likely pathogenic	22	46356073	46356073	Human	1	name
405203225	CV2861533	single nucleotide variant	NM_018006.5(TRMU):c.479-18G>A	not provided [RCV003551533]	likely benign	22	46350273	46350273	Human		name
405018834	CV2866106	single nucleotide variant	NM_018006.5(TRMU):c.652-12T>C	not provided [RCV003577410]	likely benign	22	46352109	46352109	Human		name
405192387	CV2875832	single nucleotide variant	NM_018006.5(TRMU):c.1101+9G>T	not provided [RCV003550438]	likely benign	22	46356081	46356081	Human		name
405054454	CV2890283	single nucleotide variant	NM_018006.5(TRMU):c.652-18G>A	not provided [RCV003580034]	likely benign	22	46352103	46352103	Human		name
405231874	CV2895833	single nucleotide variant	NM_018006.5(TRMU):c.478+14C>T	not provided [RCV003555603]	likely benign	22	46346558	46346558	Human		name
405114170	CV2896680	single nucleotide variant	NM_018006.5(TRMU):c.651+19C>T	not provided [RCV003558295]	likely benign	22	46350482	46350482	Human		name
405218138	CV2897300	single nucleotide variant	NM_018006.5(TRMU):c.773-17A>G	not provided [RCV003567927]	likely benign	22	46353750	46353750	Human		name
405160652	CV2899260	single nucleotide variant	NM_018006.5(TRMU):c.355+19A>G	not provided [RCV003562345]	likely benign	22	46343387	46343387	Human		name
405230817	CV2899762	single nucleotide variant	NM_018006.5(TRMU):c.651+15T>C	not provided [RCV003555482]	likely benign	22	46350478	46350478	Human		name
405165794	CV2902112	single nucleotide variant	NM_018006.5(TRMU):c.652-15G>A	not provided [RCV003562731]	likely benign	22	46352106	46352106	Human		name
405111765	CV2903307	single nucleotide variant	NM_018006.5(TRMU):c.773-12G>A	not provided [RCV003557985]	likely benign	22	46353755	46353755	Human		name
405112209	CV2903311	single nucleotide variant	NM_018006.5(TRMU):c.652-18G>C	not provided [RCV003557987]	likely benign	22	46352103	46352103	Human		name
402519513	CV2906356	single nucleotide variant	NM_018006.5(TRMU):c.874-16A>G	not provided [RCV003575748]	likely benign	22	46355428	46355428	Human		name
402480015	CV2910850	single nucleotide variant	NM_018006.5(TRMU):c.873+19G>T	not provided [RCV003571973]	likely benign	22	46353886	46353886	Human		name
402477192	CV2914272	single nucleotide variant	NM_018006.5(TRMU):c.355+13G>T	not provided [RCV003571626]	likely benign	22	46343381	46343381	Human		name
405008021	CV2926839	single nucleotide variant	NM_018006.5(TRMU):c.874-12T>G	not provided [RCV003576496]	likely benign	22	46355432	46355432	Human		name
402519992	CV2936569	single nucleotide variant	NM_018006.5(TRMU):c.479-18G>C	not provided [RCV003663092]	likely benign	22	46350273	46350273	Human		name
402499799	CV2946697	single nucleotide variant	NM_018006.5(TRMU):c.478+20T>C	not provided [RCV003661326]	likely benign	22	46346564	46346564	Human		name
402498777	CV2946792	single nucleotide variant	NM_018006.5(TRMU):c.479-17T>C	not provided [RCV003661391]	likely benign	22	46350274	46350274	Human		name
405154537	CV2950735	single nucleotide variant	NM_018006.5(TRMU):c.1102-9C>T	not provided [RCV003670281]	likely benign	22	46356833	46356833	Human		name
404983816	CV2986523	single nucleotide variant	NM_018006.5(TRMU):c.355+15T>C	not provided [RCV003691590]	likely benign	22	46343383	46343383	Human		name
402484294	CV2998255	single nucleotide variant	NM_018006.5(TRMU):c.652-20C>T	not provided [RCV003686909]	likely benign	22	46352101	46352101	Human		name
405121680	CV3004121	single nucleotide variant	NM_018006.5(TRMU):c.706-15A>G	not provided [RCV003723957]	likely benign	22	46352249	46352249	Human		name
402500799	CV3013035	single nucleotide variant	NM_018006.5(TRMU):c.772+13C>T	not provided [RCV003688397]	likely benign	22	46352343	46352343	Human		name
405027073	CV3015449	single nucleotide variant	NM_018006.5(TRMU):c.652-19T>C	not provided [RCV003695289]	likely benign	22	46352102	46352102	Human		name
405166924	CV3018987	single nucleotide variant	NM_018006.5(TRMU):c.1101+7G>A	not provided [RCV003704383]	likely benign	22	46356079	46356079	Human		name
405079012	CV3031821	single nucleotide variant	NM_018006.5(TRMU):c.773-16A>G	not provided [RCV003698731]	likely benign	22	46353751	46353751	Human		name
402512220	CV3039727	single nucleotide variant	NM_018006.5(TRMU):c.652-17C>T	not provided [RCV003715785]	likely benign	22	46352104	46352104	Human		name
405207016	CV3040108	single nucleotide variant	NM_018006.5(TRMU):c.874-15C>T	not provided [RCV003708135]	likely benign	22	46355429	46355429	Human		name
405202496	CV3041420	single nucleotide variant	NM_018006.5(TRMU):c.478+19G>A	not provided [RCV003707496]	likely benign	22	46346563	46346563	Human		name
402503606	CV3041791	single nucleotide variant	NM_018006.5(TRMU):c.773-13T>C	not provided [RCV003714992]	likely benign	22	46353754	46353754	Human		name
405253500	CV3044390	single nucleotide variant	NM_018006.5(TRMU):c.772+19C>T	not provided [RCV003722479]	likely benign	22	46352349	46352349	Human		name
405141079	CV3046036	single nucleotide variant	NM_018006.5(TRMU):c.479-15C>A	not provided [RCV003725649]	likely benign	22	46350276	46350276	Human		name
405133457	CV3047590	single nucleotide variant	NM_018006.5(TRMU):c.478+18G>A	not provided [RCV003725035]	likely benign	22	46346562	46346562	Human		name
405079136	CV3050298	single nucleotide variant	NM_018006.5(TRMU):c.355+11T>A	not provided [RCV003716998]	likely benign	22	46343379	46343379	Human		name
405252182	CV3050871	single nucleotide variant	NM_018006.5(TRMU):c.249-12C>A	not provided [RCV003722106]	likely benign	22	46343250	46343250	Human		name
405252196	CV3050886	single nucleotide variant	NM_018006.5(TRMU):c.874-11C>G	not provided [RCV003722112]	likely benign	22	46355433	46355433	Human		name
405246002	CV3051743	single nucleotide variant	NM_018006.5(TRMU):c.651+14G>C	not provided [RCV003720440]	likely benign	22	46350477	46350477	Human		name
405126998	CV3053633	single nucleotide variant	NM_018006.5(TRMU):c.706-16C>T	not provided [RCV003724467]	likely benign	22	46352248	46352248	Human		name
405227706	CV3065603	duplication	NM_018006.5(TRMU):c.772+20dup	not provided [RCV003734343]	likely benign	22	46352349	46352350	Human		name
405192033	CV3070047	single nucleotide variant	NM_018006.5(TRMU):c.874-16A>T	not provided [RCV003729813]	likely benign	22	46355428	46355428	Human		name
405235188	CV3071109	single nucleotide variant	NM_018006.5(TRMU):c.772+20A>G	not provided [RCV003735684]	likely benign	22	46352350	46352350	Human		name
405045471	CV3071446	single nucleotide variant	NM_018006.5(TRMU):c.355+13G>A	not provided [RCV003740221]	likely benign	22	46343381	46343381	Human		name
405243205	CV3074803	single nucleotide variant	NM_018006.5(TRMU):c.478+16C>T	not provided [RCV003737745]	likely benign	22	46346560	46346560	Human		name
405245928	CV3075554	single nucleotide variant	NM_018006.5(TRMU):c.248+15C>T	not provided [RCV003738568]	likely benign	22	46337959	46337959	Human		name
405013541	CV3128221	single nucleotide variant	NM_018006.5(TRMU):c.773-12G>C	not provided [RCV003829101]	likely benign	22	46353755	46353755	Human		name
405189086	CV3149528	single nucleotide variant	NM_018006.5(TRMU):c.248+13C>A	not provided [RCV003843254]	likely benign	22	46337957	46337957	Human		name
405162660	CV3153143	single nucleotide variant	NM_018006.5(TRMU):c.355+18A>G	not provided [RCV003840878]	likely benign	22	46343386	46343386	Human		name
405220084	CV3154281	single nucleotide variant	NM_018006.5(TRMU):c.478+11G>A	not provided [RCV003846973]	likely benign	22	46346555	46346555	Human		name
405132333	CV3163796	single nucleotide variant	NM_018006.5(TRMU):c.356-13A>G	not provided [RCV003854784]	likely benign	22	46346409	46346409	Human		name
402484807	CV3171269	single nucleotide variant	NM_018006.5(TRMU):c.705+15T>C	not provided [RCV003876296]	likely benign	22	46352189	46352189	Human		name
405254381	CV3175101	single nucleotide variant	NM_018006.5(TRMU):c.772+17G>A	not provided [RCV003871553]	likely benign	22	46352347	46352347	Human		name
404981859	CV3179629	single nucleotide variant	NM_018006.5(TRMU):c.355+20A>T	not provided [RCV003880610]	likely benign	22	46343388	46343388	Human		name
404981216	CV3183482	single nucleotide variant	NM_018006.5(TRMU):c.874-13T>A	not provided [RCV003880505]	likely benign	22	46355431	46355431	Human		name
408365554	CV3507546	single nucleotide variant	NM_018006.5(TRMU):c.248+10G>A	TRMU-related disorder [RCV004755082]	likely benign	22	46337954	46337954	Human		name , trait , alternate_id
11629616	CV351783	single nucleotide variant	NM_018006.5(TRMU):c.1018+9C>T	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000328968]\|not provided [RCV000841374]	likely benign\|uncertain significance	22	46355597	46355597	Human	1	name
11631109	CV351788	microsatellite	NM_018006.5(TRMU):c.*266AG[1]	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000368090]	likely benign	22	46357272	46357273	Human		name
11628272	CV352646	single nucleotide variant	NM_018006.5(TRMU):c.873+11C>T	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000298121]\|not provided [RCV002520064]	benign\|uncertain significance	22	46353878	46353878	Human	1	name
597903529	CV3738184	single nucleotide variant	NM_018006.5(TRMU):c.479-18G>T	not provided [RCV005072606]	likely benign	22	46350273	46350273	Human		name
597896145	CV3740395	single nucleotide variant	NM_018006.5(TRMU):c.479-20T>G	not provided [RCV005071748]	likely benign	22	46350271	46350271	Human		name
597942894	CV3757891	single nucleotide variant	NM_018006.5(TRMU):c.248+11G>A	not provided [RCV005077890]	likely benign	22	46337955	46337955	Human		name
597856324	CV3758777	single nucleotide variant	NM_018006.5(TRMU):c.651+13A>C	not provided [RCV005088737]	likely benign	22	46350476	46350476	Human		name
12844751	CV378835	single nucleotide variant	NM_018006.5(TRMU):c.248+19A>C	not specified [RCV000438549]	likely benign	22	46337963	46337963	Human		name
12837567	CV379866	single nucleotide variant	NM_018006.5(TRMU):c.873+12G>A	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001146694]\|not provided [RCV002521542]\|not specified [RCV000425395]	likely benign\|uncertain significance	22	46353879	46353879	Human	1	name
12906589	CV415721	single nucleotide variant	NM_018006.5(TRMU):c.1102-3C>G	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001274268]\|Aminoglycoside-induced deafness [RCV003476176]\|not provided [RCV000489397]	pathogenic\|likely pathogenic	22	46356839	46356839	Human	2	name
13540923	CV508425	single nucleotide variant	NM_018006.5(TRMU):c.479-10T>C	TRMU-related disorder [RCV003945496]\|not provided [RCV000941061]\|not specified [RCV000615395]	likely benign	22	46350281	46350281	Human	1	name , trait , alternate_id
13527069	CV508426	single nucleotide variant	NM_018006.5(TRMU):c.772+11G>C	not specified [RCV000604970]	likely benign	22	46352341	46352341	Human		name
13834697	CV585946	deletion	NM_018006.5(TRMU):c.705+10del	not provided [RCV000730281]	conflicting interpretations of pathogenicity\|uncertain significance	22	46352184	46352184	Human		name
13837840	CV589133	single nucleotide variant	NM_018006.5(TRMU):c.1101+5G>A	TRMU-related disorder [RCV004754551]\|not provided [RCV000734371]\|not specified [RCV004702385]	uncertain significance	22	46356077	46356077	Human	1	name , trait , alternate_id
14719712	CV670657	single nucleotide variant	NM_018006.5(TRMU):c.772+83T>C	not provided [RCV000830904]	benign	22	46352413	46352413	Human		name
14746466	CV670920	single nucleotide variant	NM_018006.5(TRMU):c.82+244A>G	not provided [RCV000844480]	benign	22	46336090	46336090	Human		name
15103307	CV776837	single nucleotide variant	NM_018006.5(TRMU):c.1018+7G>C	not provided [RCV000937171]	likely benign	22	46355595	46355595	Human		name
28905041	CV891851	single nucleotide variant	NM_018006.5(TRMU):c.705+10G>A	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001144728]\|not provided [RCV003669203]	likely benign\|uncertain significance	22	46352184	46352184	Human	1	name
41405679	CV982257	single nucleotide variant	NM_018006.5(TRMU):c.249-19T>A	not provided [RCV001673046]	benign	22	46343243	46343243	Human		name
127279730	CV1107773	single nucleotide variant	NM_018006.5(TRMU):c.1018+10G>A	not provided [RCV001445960]	likely benign	22	46355598	46355598	Human		name
150412210	CV1178633	single nucleotide variant	NM_018006.5(TRMU):c.1101+95A>G	not provided [RCV001547457]	likely benign	22	46356167	46356167	Human		name
150422752	CV1182014	single nucleotide variant	NM_018006.5(TRMU):c.772+254T>C	not provided [RCV001553070]	likely benign	22	46352584	46352584	Human		name
150417447	CV1199381	single nucleotide variant	NM_018006.5(TRMU):c.874-129C>T	not provided [RCV001576302]	likely benign	22	46355315	46355315	Human		name
150438640	CV1201431	single nucleotide variant	NM_018006.5(TRMU):c.652-210C>G	not provided [RCV001583243]	likely benign	22	46351911	46351911	Human		name
150447635	CV1201916	single nucleotide variant	NM_018006.5(TRMU):c.874-299T>G	not provided [RCV001584785]	likely benign	22	46355145	46355145	Human		name
150441001	CV1204486	single nucleotide variant	NM_018006.5(TRMU):c.652-216C>T	not provided [RCV001583592]	likely benign	22	46351905	46351905	Human		name
150483803	CV1210194	duplication	NM_018006.5(TRMU):c.479-296dup	not provided [RCV001590893]	likely benign	22	46349980	46349981	Human		name
150498800	CV1224198	single nucleotide variant	NM_018006.5(TRMU):c.773-318G>A	not provided [RCV001620311]	benign	22	46353449	46353449	Human		name
150516945	CV1227384	single nucleotide variant	NM_018006.5(TRMU):c.248+193A>T	not provided [RCV001639485]	benign	22	46338137	46338137	Human		name
150455945	CV1259941	single nucleotide variant	NM_018006.5(TRMU):c.873+121C>G	not provided [RCV001681420]	benign	22	46353988	46353988	Human		name
150440765	CV1266967	single nucleotide variant	NM_018006.5(TRMU):c.874-219T>C	not provided [RCV001690403]	benign	22	46355225	46355225	Human		name
150489632	CV1267476	deletion	NM_018006.5(TRMU):c.479-296del	not provided [RCV001687499]	benign	22	46349981	46349981	Human		name
150471018	CV1269983	single nucleotide variant	NM_018006.5(TRMU):c.356-162G>C	not provided [RCV001695270]	benign	22	46346260	46346260	Human		name
150476533	CV1279272	duplication	NM_018006.5(TRMU):c.479-184dup	not provided [RCV001713996]	benign	22	46350096	46350097	Human		name
150493726	CV1282166	single nucleotide variant	NM_018006.5(TRMU):c.355+162C>T	not provided [RCV001717066]	benign	22	46343530	46343530	Human		name
150443241	CV1287857	single nucleotide variant	NM_018006.5(TRMU):c.874-113C>T	not provided [RCV001725578]	benign	22	46355331	46355331	Human		name
152069295	CV1569911	single nucleotide variant	NM_018006.5(TRMU):c.1101+10G>A	not provided [RCV002191563]	likely benign	22	46356082	46356082	Human		name
405230734	CV2902438	single nucleotide variant	NM_018006.5(TRMU):c.1102-20C>G	not provided [RCV003555379]	likely benign	22	46356822	46356822	Human		name
405202764	CV2915081	single nucleotide variant	NM_018006.5(TRMU):c.1018+15G>A	not provided [RCV003566114]	likely benign	22	46355603	46355603	Human		name
405185598	CV2921303	single nucleotide variant	NM_018006.5(TRMU):c.1101+15G>A	not provided [RCV003564424]	likely benign	22	46356087	46356087	Human		name
402496734	CV2942886	single nucleotide variant	NM_018006.5(TRMU):c.1102-16G>C	not provided [RCV003661204]	likely benign	22	46356826	46356826	Human		name
405077920	CV2945320	single nucleotide variant	NM_018006.5(TRMU):c.1019-15C>T	not provided [RCV003664385]	likely benign	22	46355975	46355975	Human		name
405160716	CV2950201	single nucleotide variant	NM_018006.5(TRMU):c.1101+14G>A	not provided [RCV003674600]	likely benign	22	46356086	46356086	Human		name
402510335	CV2994819	single nucleotide variant	NM_018006.5(TRMU):c.1102-15G>A	not provided [RCV003689499]	likely benign	22	46356827	46356827	Human		name
402503336	CV3007133	single nucleotide variant	NM_018006.5(TRMU):c.1018+12G>C	not provided [RCV003688725]	likely benign	22	46355600	46355600	Human		name
405204278	CV3033461	single nucleotide variant	NM_018006.5(TRMU):c.1101+20G>A	not provided [RCV003707799]	likely benign	22	46356092	46356092	Human		name
405250599	CV3043155	single nucleotide variant	NM_018006.5(TRMU):c.1019-11C>T	not provided [RCV003721602]	likely benign	22	46355979	46355979	Human		name
405089806	CV3044562	deletion	NM_018006.5(TRMU):c.1102-15del	not provided [RCV003717651]	likely benign	22	46356825	46356825	Human		name
405140926	CV3046015	single nucleotide variant	NM_018006.5(TRMU):c.1019-13C>G	not provided [RCV003725636]	likely benign	22	46355977	46355977	Human		name
405250799	CV3053138	single nucleotide variant	NM_018006.5(TRMU):c.1102-17G>A	not provided [RCV003721721]	likely benign	22	46356825	46356825	Human		name
405125783	CV3053389	single nucleotide variant	NM_018006.5(TRMU):c.1101+14G>T	not provided [RCV003724357]	likely benign	22	46356086	46356086	Human		name
405194438	CV3062819	single nucleotide variant	NM_018006.5(TRMU):c.1102-14T>C	not provided [RCV003730036]	likely benign	22	46356828	46356828	Human		name
405148215	CV3067298	single nucleotide variant	NM_018006.5(TRMU):c.1101+17G>A	not provided [RCV003726138]	likely benign	22	46356089	46356089	Human		name
405226460	CV3069290	single nucleotide variant	NM_018006.5(TRMU):c.1018+17C>T	not provided [RCV003734137]	likely benign	22	46355605	46355605	Human		name
405190427	CV3069837	single nucleotide variant	NM_018006.5(TRMU):c.1018+19C>T	not provided [RCV003729669]	likely benign	22	46355607	46355607	Human		name
405241678	CV3070435	single nucleotide variant	NM_018006.5(TRMU):c.1102-14T>A	not provided [RCV003737414]	likely benign	22	46356828	46356828	Human		name
405024056	CV3075738	duplication	NM_018006.5(TRMU):c.1101+20dup	not provided [RCV003738645]	likely benign	22	46356091	46356092	Human		name
405241821	CV3078479	single nucleotide variant	NM_018006.5(TRMU):c.1019-18C>T	not provided [RCV003737444]	likely benign	22	46355972	46355972	Human		name
405046568	CV3141633	single nucleotide variant	NM_018006.5(TRMU):c.1102-18A>C	not provided [RCV003831734]	likely benign	22	46356824	46356824	Human		name
405048638	CV3150691	single nucleotide variant	NM_018006.5(TRMU):c.1101+12G>A	not provided [RCV003849294]	likely benign	22	46356084	46356084	Human		name
597942766	CV3757863	single nucleotide variant	NM_018006.5(TRMU):c.1019-17C>A	not provided [RCV005077862]	likely benign	22	46355973	46355973	Human		name
14746471	CV669704	single nucleotide variant	NM_018006.5(TRMU):c.873+244A>G	not provided [RCV000844485]	benign	22	46354111	46354111	Human		name
14746470	CV670659	single nucleotide variant	NM_018006.5(TRMU):c.772+217G>A	not provided [RCV000844484]	benign	22	46352547	46352547	Human		name
14731655	CV670707	single nucleotide variant	NM_018006.5(TRMU):c.772+106A>C	not provided [RCV000836232]	benign	22	46352436	46352436	Human		name
14728837	CV670708	single nucleotide variant	NM_018006.5(TRMU):c.772+143G>A	not provided [RCV000834952]	benign	22	46352473	46352473	Human		name
14746468	CV670924	single nucleotide variant	NM_018006.5(TRMU):c.249-208G>A	not provided [RCV000844482]	benign	22	46343054	46343054	Human		name
14746469	CV670925	single nucleotide variant	NM_018006.5(TRMU):c.478+235G>A	not provided [RCV000844483]	benign	22	46346779	46346779	Human		name
150440928	CV1204474	single nucleotide variant	NM_018006.5(TRMU):c.1101+224C>T	not provided [RCV001583579]	likely benign	22	46356296	46356296	Human		name
155730567	CV1780840	duplication	NM_018006.5(TRMU):c.77_82+16dup	not specified [RCV002308628]	uncertain significance	22	46335835	46335836	Human		name
14730863	CV670714	single nucleotide variant	NM_018006.5(TRMU):c.1101+111G>C	not provided [RCV000835868]	benign	22	46356183	46356183	Human		name
14746472	CV670928	single nucleotide variant	NM_018006.5(TRMU):c.1019-158C>T	not provided [RCV000844490]	benign	22	46355832	46355832	Human		name
243064219	CV2411266	microsatellite	NM_018006.5(TRMU):c.-454_-452del	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV003142838]	uncertain significance	22	46335311	46335313	Human		name
401949336	CV2836856	deletion	NM_018006.5(TRMU):c.1103_1109del	Aminoglycoside-induced deafness [RCV003474171]	likely pathogenic	22	46356841	46356847	Human	1	name
127249237	CV1086036	single nucleotide variant	NM_018006.5(TRMU):c.6G>A (p.Gln2=)	TRMU-related disorder [RCV003973235]\|not provided [RCV001399559]	likely benign	22	46335770	46335770	Human	1	name , trait , alternate_id
150448999	CV1275615	microsatellite	NM_018006.5(TRMU):c.1102-154CAG[5]	not provided [RCV001708070]	benign	22	46356688	46356690	Human		name
151890759	CV1350637	deletion	NM_018006.5(TRMU):c.356-2_356-1del	Aminoglycoside-induced deafness [RCV002492399]\|Aminoglycoside-induced deafness [RCV003475300]\|not provided [RCV002038897]	likely pathogenic	22	46346420	46346421	Human	1	name
8691462	CV141422	single nucleotide variant	NM_018006.5(TRMU):c.9C>G (p.Ala3=)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000316646]\|not provided [RCV004713322]\|not specified [RCV000125609]	benign\|likely benign	22	46335773	46335773	Human	1	name
156152968	CV2098555	deletion	NM_018006.5(TRMU):c.1017_1018+6del	not provided [RCV002890716]	likely pathogenic	22	46355584	46355591	Human		name
156184316	CV2163894	duplication	NM_018006.5(TRMU):c.249-7_249-5dup	not provided [RCV003023927]	likely benign	22	46343252	46343253	Human		name
401949333	CV2836853	deletion	NM_018006.5(TRMU):c.1019-2_1023del	Aminoglycoside-induced deafness [RCV003474168]	likely pathogenic	22	46355985	46355991	Human	1	name
405869954	CV3399627	deletion	NM_018006.5(TRMU):c.1085_1101+7del	Aminoglycoside-induced deafness [RCV004573772]	likely pathogenic	22	46356049	46356072	Human	1	name
598232044	CV3893189	deletion	NM_018006.5(TRMU):c.652-6_652-2del	TRMU-related disorder [RCV005255548]	uncertain significance	22	46352112	46352116	Human		name , trait , alternate_id
15127916	CV773589	single nucleotide variant	NM_018006.5(TRMU):c.9C>T (p.Ala3=)	not provided [RCV000941626]	likely benign	22	46335773	46335773	Human		name
127254787	CV1086037	single nucleotide variant	NM_018006.5(TRMU):c.21C>T (p.Val7=)	TRMU-related disorder [RCV004754753]\|not provided [RCV001418624]	likely benign	22	46335785	46335785	Human	1	name , trait , alternate_id
127334789	CV1129172	single nucleotide variant	NM_018006.5(TRMU):c.21C>A (p.Val7=)	not provided [RCV001473855]	likely benign	22	46335785	46335785	Human		name
152109252	CV1520220	single nucleotide variant	NM_018006.5(TRMU):c.27C>T (p.Cys9=)	Aminoglycoside-induced deafness [RCV002505799]\|not provided [RCV002134270]	likely benign	22	46335791	46335791	Human	1	name
156343393	CV1958011	single nucleotide variant	NM_018006.5(TRMU):c.24G>T (p.Val8=)	not provided [RCV002580630]	likely benign	22	46335788	46335788	Human		name
10411689	CV211951	deletion	NM_018006.5(TRMU):c.773-12_773-9del	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001274267]\|TRMU-related disorder [RCV004754351]\|not provided [RCV002517267]\|not specified [RCV000200786]	likely pathogenic\|likely benign\|uncertain significance	22	46353753	46353756	Human	1	name , trait , alternate_id
401949355	CV2836875	deletion	NM_018006.5(TRMU):c.1102-22_1130del	Aminoglycoside-induced deafness [RCV003474190]	likely pathogenic	22	46356820	46356870	Human	1	name
13833114	CV584342	deletion	NM_018006.5(TRMU):c.248+9_248+18del	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001277296]\|not provided [RCV000728273]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	46337951	46337960	Human	1	name
13834737	CV585986	single nucleotide variant	NM_018006.5(TRMU):c.18C>T (p.His6=)	not provided [RCV000730327]	conflicting interpretations of pathogenicity\|uncertain significance	22	46335782	46335782	Human		name
13835822	CV587085	duplication	NM_018006.5(TRMU):c.874-26_874-5dup	not provided [RCV000731725]	uncertain significance	22	46355416	46355417	Human		name
127244694	CV1086038	single nucleotide variant	NM_018006.5(TRMU):c.33G>A (p.Leu11=)	not provided [RCV001416379]	likely benign	22	46335797	46335797	Human		name
127276985	CV1086039	single nucleotide variant	NM_018006.5(TRMU):c.42C>G (p.Gly14=)	not provided [RCV001407491]	likely benign	22	46335806	46335806	Human		name
127278408	CV1086040	single nucleotide variant	NM_018006.5(TRMU):c.96A>G (p.Thr32=)	not provided [RCV001408457]	likely benign	22	46337792	46337792	Human		name
127274628	CV1107763	single nucleotide variant	NM_018006.5(TRMU):c.67C>T (p.Leu23=)	not provided [RCV001442922]	likely benign	22	46335831	46335831	Human		name
127321237	CV1129173	single nucleotide variant	NM_018006.5(TRMU):c.36C>T (p.Ser12=)	not provided [RCV001467203]	likely benign	22	46335800	46335800	Human		name
127317375	CV1150162	single nucleotide variant	NM_018006.5(TRMU):c.30C>G (p.Ala10=)	not provided [RCV001503371]	likely benign	22	46335794	46335794	Human		name
127297409	CV1150163	single nucleotide variant	NM_018006.5(TRMU):c.39C>T (p.Gly13=)	not provided [RCV001497766]	likely benign	22	46335803	46335803	Human		name
151717249	CV1513222	single nucleotide variant	NM_018006.5(TRMU):c.4C>T (p.Gln2Ter)	Aminoglycoside-induced deafness [RCV004571516]\|not provided [RCV001890520]	pathogenic\|likely pathogenic	22	46335768	46335768	Human	1	name
152159344	CV1522620	single nucleotide variant	NM_018006.5(TRMU):c.63G>C (p.Ala21=)	not provided [RCV002140648]	likely benign	22	46335827	46335827	Human		name
152050957	CV1596714	single nucleotide variant	NM_018006.5(TRMU):c.69G>T (p.Leu23=)	not provided [RCV002166872]	likely benign	22	46335833	46335833	Human		name
152030221	CV1622072	single nucleotide variant	NM_018006.5(TRMU):c.79A>C (p.Arg27=)	not provided [RCV002186412]	likely benign	22	46335843	46335843	Human		name
8595371	CV16333	single nucleotide variant	NM_018006.5(TRMU):c.2T>A (p.Met1Lys)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000001357]	pathogenic	22	46335766	46335766	Human	1	name
152034685	CV1634988	single nucleotide variant	NM_018006.5(TRMU):c.87C>T (p.Tyr29=)	not provided [RCV002087014]	likely benign	22	46337783	46337783	Human		name
156350566	CV1886209	single nucleotide variant	NM_018006.5(TRMU):c.36C>G (p.Ser12=)	not provided [RCV003090941]	likely benign	22	46335800	46335800	Human		name
10410783	CV211942	single nucleotide variant	NM_018006.5(TRMU):c.2T>G (p.Met1Arg)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV005406934]\|Aminoglycoside-induced deafness [RCV005031733]\|not provided [RCV000198888]	pathogenic\|likely pathogenic\|uncertain significance	22	46335766	46335766	Human	2	name
11582228	CV264995	single nucleotide variant	NM_018006.5(TRMU):c.2T>C (p.Met1Thr)	not provided [RCV000402876]	pathogenic\|likely pathogenic	22	46335766	46335766	Human		name
405194863	CV2868657	single nucleotide variant	NM_018006.5(TRMU):c.54C>G (p.Ala18=)	not provided [RCV003550748]	likely benign	22	46335818	46335818	Human		name
405196662	CV2879375	single nucleotide variant	NM_018006.5(TRMU):c.63G>T (p.Ala21=)	not provided [RCV003550909]	likely benign	22	46335827	46335827	Human		name
405127602	CV2957148	single nucleotide variant	NM_018006.5(TRMU):c.51C>T (p.Ser17=)	not provided [RCV003672108]	likely benign	22	46335815	46335815	Human		name
405017510	CV2991810	single nucleotide variant	NM_018006.5(TRMU):c.63G>A (p.Ala21=)	not provided [RCV003694540]	likely benign	22	46335827	46335827	Human		name
404986450	CV3001549	microsatellite	NM_018006.5(TRMU):c.772+15_772+16del	not provided [RCV003691872]	likely benign	22	46352343	46352344	Human		name
405092722	CV3045487	single nucleotide variant	NM_018006.5(TRMU):c.48C>T (p.Asp16=)	not provided [RCV003717934]	likely benign	22	46335812	46335812	Human		name
597951978	CV3765529	deletion	NM_018006.5(TRMU):c.773-12_773-11del	not provided [RCV005121173]	likely benign	22	46353754	46353755	Human		name
13789430	CV550101	single nucleotide variant	NM_018006.5(TRMU):c.60C>A (p.Ala20=)	not provided [RCV000676759]	likely benign	22	46335824	46335824	Human		name
13833655	CV584892	single nucleotide variant	NM_018006.5(TRMU):c.99G>A (p.Gly33=)	not provided [RCV000728980]	conflicting interpretations of pathogenicity\|uncertain significance	22	46337795	46337795	Human		name
13836045	CV587312	single nucleotide variant	NM_018006.5(TRMU):c.30C>T (p.Ala10=)	not provided [RCV000732015]	conflicting interpretations of pathogenicity\|uncertain significance	22	46335794	46335794	Human		name
15142939	CV786614	single nucleotide variant	NM_018006.5(TRMU):c.39C>G (p.Gly13=)	not provided [RCV000983241]	likely benign	22	46335803	46335803	Human		name
127261946	CV1086041	single nucleotide variant	NM_018006.5(TRMU):c.219C>T (p.Tyr73=)	not provided [RCV001402527]	likely benign	22	46337915	46337915	Human		name
127277257	CV1107765	single nucleotide variant	NM_018006.5(TRMU):c.124C>T (p.Leu42=)	not provided [RCV001444269]	likely benign	22	46337820	46337820	Human		name
127334084	CV1129175	single nucleotide variant	NM_018006.5(TRMU):c.150C>T (p.Ala50=)	not provided [RCV001473381]	likely benign	22	46337846	46337846	Human		name
127313118	CV1150164	single nucleotide variant	NM_018006.5(TRMU):c.243G>A (p.Val81=)	not provided [RCV001502087]	likely benign	22	46337939	46337939	Human		name
127286442	CV1150165	single nucleotide variant	NM_018006.5(TRMU):c.270A>G (p.Glu90=)	not provided [RCV001494196]	likely benign	22	46343283	46343283	Human		name
8691463	CV141423	single nucleotide variant	NM_018006.5(TRMU):c.10T>G (p.Leu4Val)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000389480]\|not provided [RCV004703401]\|not specified [RCV000125610]	benign\|likely benign	22	46335774	46335774	Human	1	name
152145383	CV1543271	single nucleotide variant	NM_018006.5(TRMU):c.189C>T (p.Ile63=)	not provided [RCV002178645]	likely benign	22	46337885	46337885	Human		name
152139036	CV1563598	single nucleotide variant	NM_018006.5(TRMU):c.282T>G (p.Thr94=)	not provided [RCV002200336]	likely benign	22	46343295	46343295	Human		name
153303406	CV1686214	single nucleotide variant	NM_018006.5(TRMU):c.17A>G (p.His6Arg)	not provided [RCV002261647]	uncertain significance	22	46335781	46335781	Human		name
156265704	CV1902985	single nucleotide variant	NM_018006.5(TRMU):c.231T>C (p.Tyr77=)	not provided [RCV003086602]	likely benign	22	46337927	46337927	Human		name
156270573	CV2026898	single nucleotide variant	NM_018006.5(TRMU):c.141C>G (p.Val47=)	not provided [RCV002746623]	likely benign	22	46337837	46337837	Human		name
156093092	CV2054577	single nucleotide variant	NM_018006.5(TRMU):c.198C>T (p.Ile66=)	not provided [RCV002824263]	likely benign	22	46337894	46337894	Human		name
155954645	CV2161575	single nucleotide variant	NM_018006.5(TRMU):c.123A>G (p.Ser41=)	not provided [RCV003032615]	likely benign	22	46337819	46337819	Human		name
156193633	CV2175375	indel	NM_018006.5(TRMU):c.355_355+1delinsTT	not provided [RCV003057919]	likely pathogenic	22	46343368	46343369	Human		name
156290325	CV2182900	single nucleotide variant	NM_018006.5(TRMU):c.105T>C (p.Phe35=)	not provided [RCV003027651]	likely benign	22	46337801	46337801	Human		name
156149543	CV2234820	single nucleotide variant	NM_018006.5(TRMU):c.14G>C (p.Arg5Pro)	Inborn genetic diseases [RCV002786811]	uncertain significance	22	46335778	46335778	Human	1	name
401931901	CV2801754	single nucleotide variant	NM_018006.5(TRMU):c.11T>C (p.Leu4Ser)	TRMU-related disorder [RCV003408543]	uncertain significance	22	46335775	46335775	Human		name , trait , alternate_id
405202865	CV2861593	single nucleotide variant	NM_018006.5(TRMU):c.228G>A (p.Glu76=)	not provided [RCV003551568]	likely benign	22	46337924	46337924	Human		name
405014470	CV2930421	single nucleotide variant	NM_018006.5(TRMU):c.27C>A (p.Cys9Ter)	not provided [RCV003577020]	pathogenic	22	46335791	46335791	Human		name
405191273	CV2964857	single nucleotide variant	NM_018006.5(TRMU):c.294C>T (p.Asp98=)	not provided [RCV003677221]	likely benign	22	46343307	46343307	Human		name
405229591	CV2977317	single nucleotide variant	NM_018006.5(TRMU):c.186G>A (p.Gln62=)	not provided [RCV003711289]	likely benign	22	46337882	46337882	Human		name
405239133	CV2983113	single nucleotide variant	NM_018006.5(TRMU):c.216C>T (p.Ser72=)	not provided [RCV003683569]	likely benign	22	46337912	46337912	Human		name
405089979	CV3025250	single nucleotide variant	NM_018006.5(TRMU):c.285C>A (p.Pro95=)	not provided [RCV003699668]	likely benign	22	46343298	46343298	Human		name
405208528	CV3145713	single nucleotide variant	NM_018006.5(TRMU):c.285C>T (p.Pro95=)	not provided [RCV003845443]	likely benign	22	46343298	46343298	Human		name
408365928	CV3512541	single nucleotide variant	NM_018006.5(TRMU):c.20T>C (p.Val7Ala)	TRMU-related disorder [RCV004755428]	uncertain significance	22	46335784	46335784	Human		name , trait , alternate_id
13836407	CV587680	single nucleotide variant	NM_018006.5(TRMU):c.102G>A (p.Val34=)	not provided [RCV000732521]	conflicting interpretations of pathogenicity\|uncertain significance	22	46337798	46337798	Human		name
15121568	CV786615	single nucleotide variant	NM_018006.5(TRMU):c.264G>A (p.Glu88=)	not provided [RCV000979491]	likely benign	22	46343277	46343277	Human		name
28885379	CV891430	single nucleotide variant	NM_018006.5(TRMU):c.256T>C (p.Leu86=)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001150845]	uncertain significance	22	46343269	46343269	Human	1	name
127281564	CV1086042	single nucleotide variant	NM_018006.5(TRMU):c.369T>C (p.Ile123=)	TRMU-related disorder [RCV003946079]\|not provided [RCV001410573]	likely benign\|uncertain significance	22	46346435	46346435	Human	1	name , trait , alternate_id
127277632	CV1086043	single nucleotide variant	NM_018006.5(TRMU):c.388A>C (p.Arg130=)	not provided [RCV001407962]	likely benign	22	46346454	46346454	Human		name
127261959	CV1086044	single nucleotide variant	NM_018006.5(TRMU):c.393T>C (p.Thr131=)	not provided [RCV001402530]	likely benign	22	46346459	46346459	Human		name
127243998	CV1086045	single nucleotide variant	NM_018006.5(TRMU):c.468A>G (p.Glu156=)	not provided [RCV001416280]	likely benign	22	46346534	46346534	Human		name
127239650	CV1086046	single nucleotide variant	NM_018006.5(TRMU):c.471T>C (p.Val157=)	not provided [RCV001397612]	likely benign	22	46346537	46346537	Human		name
127276507	CV1086047	single nucleotide variant	NM_018006.5(TRMU):c.567C>T (p.Ile189=)	not provided [RCV001407188]	likely benign	22	46350379	46350379	Human		name
127231858	CV1086048	single nucleotide variant	NM_018006.5(TRMU):c.648A>G (p.Lys216=)	not provided [RCV001413239]	likely benign	22	46350460	46350460	Human		name
127245280	CV1086049	single nucleotide variant	NM_018006.5(TRMU):c.679A>C (p.Arg227=)	not provided [RCV001416466]	likely benign	22	46352148	46352148	Human		name
127236556	CV1086051	single nucleotide variant	NM_018006.5(TRMU):c.855C>T (p.Val285=)	not provided [RCV001392095]	likely benign	22	46353849	46353849	Human		name
127271426	CV1086052	single nucleotide variant	NM_018006.5(TRMU):c.897C>T (p.Ala299=)	not provided [RCV001405338]	likely benign	22	46355467	46355467	Human		name
127230551	CV1086053	single nucleotide variant	NM_018006.5(TRMU):c.900G>C (p.Leu300=)	not provided [RCV001394735]	likely benign	22	46355470	46355470	Human		name
127256093	CV1086054	single nucleotide variant	NM_018006.5(TRMU):c.903C>T (p.Tyr301=)	not provided [RCV001401188]	likely benign	22	46355473	46355473	Human		name
127243660	CV1086055	single nucleotide variant	NM_018006.5(TRMU):c.942G>T (p.Ala314=)	not provided [RCV001398430]	likely benign	22	46355512	46355512	Human		name
127249425	CV1086056	single nucleotide variant	NM_018006.5(TRMU):c.987C>T (p.Cys329=)	not provided [RCV001399596]	likely benign	22	46355557	46355557	Human		name
127276984	CV1107768	single nucleotide variant	NM_018006.5(TRMU):c.513A>G (p.Lys171=)	not provided [RCV001444135]	likely benign	22	46350325	46350325	Human		name
127282800	CV1107769	single nucleotide variant	NM_018006.5(TRMU):c.729C>T (p.His243=)	not provided [RCV001448098]	likely benign	22	46352287	46352287	Human		name
127257284	CV1107770	single nucleotide variant	NM_018006.5(TRMU):c.852C>T (p.Ser284=)	not provided [RCV001437878]	likely benign	22	46353846	46353846	Human		name
127281051	CV1107771	single nucleotide variant	NM_018006.5(TRMU):c.870T>C (p.Phe290=)	not provided [RCV001446867]	likely benign	22	46353864	46353864	Human		name
127318949	CV1129176	single nucleotide variant	NM_018006.5(TRMU):c.444A>G (p.Glu148=)	not provided [RCV001466409]	likely benign	22	46346510	46346510	Human		name
127313560	CV1129177	single nucleotide variant	NM_018006.5(TRMU):c.489C>G (p.Leu163=)	not provided [RCV001457490]	likely benign	22	46350301	46350301	Human		name
127316144	CV1129178	single nucleotide variant	NM_018006.5(TRMU):c.597T>C (p.Phe199=)	not provided [RCV001465456]	likely benign	22	46350409	46350409	Human		name
127289465	CV1129179	single nucleotide variant	NM_018006.5(TRMU):c.732T>C (p.Phe244=)	not provided [RCV001458094]	likely benign	22	46352290	46352290	Human		name
127302286	CV1129180	single nucleotide variant	NM_018006.5(TRMU):c.759G>A (p.Leu253=)	not provided [RCV001454411]	likely benign	22	46352317	46352317	Human		name
127296514	CV1129181	single nucleotide variant	NM_018006.5(TRMU):c.789C>T (p.Thr263=)	not provided [RCV001452758]	likely benign	22	46353783	46353783	Human		name
127296480	CV1129182	single nucleotide variant	NM_018006.5(TRMU):c.817C>T (p.Leu273=)	not provided [RCV001452751]	likely benign	22	46353811	46353811	Human		name
127295434	CV1129184	single nucleotide variant	NM_018006.5(TRMU):c.885A>G (p.Thr295=)	not provided [RCV001459738]	likely benign	22	46355455	46355455	Human		name
127314987	CV1129185	single nucleotide variant	NM_018006.5(TRMU):c.963G>A (p.Leu321=)	not provided [RCV001457875]	likely benign	22	46355533	46355533	Human		name
127294401	CV1150166	single nucleotide variant	NM_018006.5(TRMU):c.462G>A (p.Arg154=)	not provided [RCV001496975]	likely benign	22	46346528	46346528	Human		name
127337155	CV1150168	single nucleotide variant	NM_018006.5(TRMU):c.585A>G (p.Leu195=)	not provided [RCV001492650]	likely benign	22	46350397	46350397	Human		name
127308680	CV1150172	single nucleotide variant	NM_018006.5(TRMU):c.909C>T (p.Asp303=)	not provided [RCV001480669]	likely benign	22	46355479	46355479	Human		name
150514206	CV1210912	insertion	NM_018006.5(TRMU):c.249-88_249-87insCT	not provided [RCV001598955]	benign	22	46343173	46343174	Human		name
150462574	CV1253680	deletion	NM_018006.5(TRMU):c.356-225_356-222del	not provided [RCV001669722]	benign	22	46346195	46346198	Human		name
151758342	CV1349829	single nucleotide variant	NM_018006.5(TRMU):c.915G>A (p.Leu305=)	not provided [RCV001986975]	likely benign	22	46355485	46355485	Human		name
8691451	CV141411	single nucleotide variant	NM_018006.5(TRMU):c.387A>G (p.Ala129=)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000346617]\|Aminoglycoside-induced deafness [RCV002498607]\|not provided [RCV000955993]\|not specified [RCV000178316]	benign\|likely benign\|uncertain significance	22	46346453	46346453	Human	2	name
8691454	CV141414	single nucleotide variant	NM_018006.5(TRMU):c.552C>T (p.Ala184=)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000396550]\|not provided [RCV000676761]\|not specified [RCV000125601]	benign\|likely benign	22	46350364	46350364	Human	1	name
8691456	CV141416	single nucleotide variant	NM_018006.5(TRMU):c.864C>T (p.Asp288=)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000356541]\|not provided [RCV000958271]\|not specified [RCV000125603]	benign\|likely benign	22	46353858	46353858	Human	1	name
8691457	CV141417	single nucleotide variant	NM_018006.5(TRMU):c.900G>T (p.Leu300=)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000276933]\|not provided [RCV000884918]\|not specified [RCV000125604]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	46355470	46355470	Human	1	name
8691464	CV141424	single nucleotide variant	NM_018006.5(TRMU):c.75G>T (p.Arg25Ser)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000349987]\|not provided [RCV000903301]\|not specified [RCV000173460]	benign\|likely benign	22	46335839	46335839	Human	1	name
151797583	CV1512893	single nucleotide variant	NM_018006.5(TRMU):c.87C>G (p.Tyr29Ter)	Aminoglycoside-induced deafness [RCV002506887]\|Aminoglycoside-induced deafness [RCV003475118]\|not provided [RCV001866829]	pathogenic\|likely pathogenic	22	46337783	46337783	Human	1	name
152122598	CV1521642	single nucleotide variant	NM_018006.5(TRMU):c.807C>T (p.Asn269=)	not provided [RCV002135901]	likely benign	22	46353801	46353801	Human		name
152160168	CV1522799	single nucleotide variant	NM_018006.5(TRMU):c.396C>T (p.Ser132=)	not provided [RCV002140783]	likely benign	22	46346462	46346462	Human		name
152100082	CV1524736	single nucleotide variant	NM_018006.5(TRMU):c.894A>G (p.Pro298=)	not provided [RCV002172981]	likely benign	22	46355464	46355464	Human		name
152142078	CV1526613	single nucleotide variant	NM_018006.5(TRMU):c.867G>A (p.Val289=)	TRMU-related disorder [RCV003984219]\|not provided [RCV002084291]	likely benign	22	46353861	46353861	Human	1	name , trait , alternate_id
152050476	CV1533145	single nucleotide variant	NM_018006.5(TRMU):c.948G>A (p.Glu316=)	not provided [RCV002166813]	likely benign	22	46355518	46355518	Human		name
152069882	CV1535074	single nucleotide variant	NM_018006.5(TRMU):c.441C>T (p.Pro147=)	not provided [RCV002111302]	likely benign	22	46346507	46346507	Human		name
152087763	CV1536494	single nucleotide variant	NM_018006.5(TRMU):c.921C>T (p.Thr307=)	not provided [RCV002171419]	likely benign	22	46355491	46355491	Human		name
152111446	CV1537164	single nucleotide variant	NM_018006.5(TRMU):c.678G>A (p.Lys226=)	not provided [RCV002215547]	likely benign	22	46352147	46352147	Human		name
152100348	CV1539997	single nucleotide variant	NM_018006.5(TRMU):c.543C>G (p.Ser181=)	not provided [RCV002095437]	likely benign	22	46350355	46350355	Human		name
152120239	CV1547355	single nucleotide variant	NM_018006.5(TRMU):c.930G>A (p.Val310=)	not provided [RCV002081453]	likely benign	22	46355500	46355500	Human		name
152032476	CV1549022	single nucleotide variant	NM_018006.5(TRMU):c.750T>C (p.Asn250=)	not provided [RCV002086587]	likely benign	22	46352308	46352308	Human		name
152109092	CV1563814	single nucleotide variant	NM_018006.5(TRMU):c.417T>C (p.Phe139=)	not provided [RCV002174099]	likely benign	22	46346483	46346483	Human		name
152124446	CV1564125	single nucleotide variant	NM_018006.5(TRMU):c.738C>T (p.Ser246=)	not provided [RCV002176002]	likely benign	22	46352296	46352296	Human		name
152083281	CV1576774	single nucleotide variant	NM_018006.5(TRMU):c.381C>T (p.His127=)	not provided [RCV002193301]	likely benign	22	46346447	46346447	Human		name
152049547	CV1585570	single nucleotide variant	NM_018006.5(TRMU):c.921C>G (p.Thr307=)	not provided [RCV002145510]	likely benign	22	46355491	46355491	Human		name
152142099	CV1586484	single nucleotide variant	NM_018006.5(TRMU):c.819G>C (p.Leu273=)	not provided [RCV002178192]	likely benign	22	46353813	46353813	Human		name
152128030	CV1596483	single nucleotide variant	NM_018006.5(TRMU):c.669C>T (p.Phe223=)	not provided [RCV002118710]	likely benign	22	46352138	46352138	Human		name
152136559	CV1603579	single nucleotide variant	NM_018006.5(TRMU):c.492C>T (p.Leu164=)	not provided [RCV002218796]	likely benign	22	46350304	46350304	Human		name
152038382	CV1625174	single nucleotide variant	NM_018006.5(TRMU):c.894A>C (p.Pro298=)	not provided [RCV002205965]	likely benign	22	46355464	46355464	Human		name
152168952	CV1626437	single nucleotide variant	NM_018006.5(TRMU):c.756T>C (p.Val252=)	not provided [RCV002182624]	likely benign	22	46352314	46352314	Human		name
152096150	CV1631270	single nucleotide variant	NM_018006.5(TRMU):c.588G>A (p.Thr196=)	not provided [RCV002172478]	likely benign	22	46350400	46350400	Human		name
8595368	CV16329	single nucleotide variant	NM_018006.5(TRMU):c.28G>T (p.Ala10Ser)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000295210]\|Aminoglycoside-induced deafness [RCV002496227]\|Deafness, mitochondrial, modifier of [RCV000001353]\|not provided [RCV000676757]\|not specified [RCV000173461]	risk factor\|benign\|likely benign	22	46335792	46335792	Human	8	name
8595368	CV16329	single nucleotide variant	NM_018006.5(TRMU):c.28G>T (p.Ala10Ser)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000295210]\|Aminoglycoside-induced deafness [RCV002496227]\|Deafness, mitochondrial, modifier of [RCV000001353]\|not provided [RCV000676757]\|not specified [RCV000173461]	risk factor\|benign\|likely benign	22	46335792	46335793	Human	8	name
152058720	CV1644635	single nucleotide variant	NM_018006.5(TRMU):c.573T>C (p.Pro191=)	not provided [RCV002167749]	likely benign	22	46350385	46350385	Human		name
152086083	CV1645307	single nucleotide variant	NM_018006.5(TRMU):c.963G>C (p.Leu321=)	not provided [RCV002131445]	likely benign	22	46355533	46355533	Human		name
155644797	CV1710399	single nucleotide variant	NM_018006.5(TRMU):c.660C>T (p.Gly220=)	not provided [RCV002293695]	conflicting interpretations of pathogenicity\|uncertain significance	22	46352129	46352129	Human		name
156264769	CV1869464	single nucleotide variant	NM_018006.5(TRMU):c.816C>A (p.Gly272=)	not provided [RCV003060493]	likely benign	22	46353810	46353810	Human		name
156116797	CV1972863	single nucleotide variant	NM_018006.5(TRMU):c.621T>C (p.Asn207=)	not provided [RCV002592979]	likely benign	22	46350433	46350433	Human		name
156221043	CV2015501	single nucleotide variant	NM_018006.5(TRMU):c.372C>G (p.Ala124=)	not provided [RCV002701007]	likely benign	22	46346438	46346438	Human		name
156267025	CV2030520	single nucleotide variant	NM_018006.5(TRMU):c.357G>A (p.Gly119=)	not provided [RCV002746508]	likely benign	22	46346423	46346423	Human		name
156273251	CV2046233	single nucleotide variant	NM_018006.5(TRMU):c.408A>G (p.Glu136=)	not provided [RCV002770120]	likely benign	22	46346474	46346474	Human		name
155956123	CV2070018	single nucleotide variant	NM_018006.5(TRMU):c.426G>A (p.Lys142=)	not provided [RCV002816523]	likely benign	22	46346492	46346492	Human		name
156168187	CV2075402	single nucleotide variant	NM_018006.5(TRMU):c.543C>T (p.Ser181=)	not provided [RCV002851450]	likely benign	22	46350355	46350355	Human		name
155904877	CV2134453	single nucleotide variant	NM_018006.5(TRMU):c.711G>A (p.Leu237=)	not provided [RCV002967648]	likely benign	22	46352269	46352269	Human		name
156037142	CV2150279	single nucleotide variant	NM_018006.5(TRMU):c.810A>C (p.Ile270=)	not provided [RCV003018916]	likely benign	22	46353804	46353804	Human		name
155989358	CV2151146	single nucleotide variant	NM_018006.5(TRMU):c.525C>T (p.Phe175=)	not provided [RCV003016750]	likely benign	22	46350337	46350337	Human		name
156177620	CV2166445	single nucleotide variant	NM_018006.5(TRMU):c.483A>C (p.Val161=)	not provided [RCV003023726]	likely benign	22	46350295	46350295	Human		name
156302026	CV2166504	single nucleotide variant	NM_018006.5(TRMU):c.402A>G (p.Glu134=)	not provided [RCV003045598]	likely benign	22	46346468	46346468	Human		name
156322019	CV2182810	single nucleotide variant	NM_018006.5(TRMU):c.324T>C (p.Ser108=)	not provided [RCV003046674]	likely benign	22	46343337	46343337	Human		name
401887947	CV2768888	single nucleotide variant	NM_018006.5(TRMU):c.98G>A (p.Gly33Glu)	Inborn genetic diseases [RCV003352665]	uncertain significance	22	46337794	46337794	Human	1	name
402494131	CV2874332	single nucleotide variant	NM_018006.5(TRMU):c.537G>A (p.Gln179=)	not provided [RCV003545215]	likely benign	22	46350349	46350349	Human		name
405152358	CV2885370	single nucleotide variant	NM_018006.5(TRMU):c.942G>C (p.Ala314=)	not provided [RCV003561818]	likely benign	22	46355512	46355512	Human		name
402481239	CV2911119	single nucleotide variant	NM_018006.5(TRMU):c.483A>G (p.Val161=)	not provided [RCV003572105]	likely benign	22	46350295	46350295	Human		name
405192843	CV2925441	single nucleotide variant	NM_018006.5(TRMU):c.570C>T (p.Phe190=)	not provided [RCV003565070]	likely benign	22	46350382	46350382	Human		name
402499001	CV2946819	single nucleotide variant	NM_018006.5(TRMU):c.843G>A (p.Glu281=)	not provided [RCV003661412]	likely benign	22	46353837	46353837	Human		name
405183556	CV2952871	single nucleotide variant	NM_018006.5(TRMU):c.574C>T (p.Leu192=)	not provided [RCV003676497]	likely benign	22	46350386	46350386	Human		name
405129036	CV2953480	single nucleotide variant	NM_018006.5(TRMU):c.790T>C (p.Leu264=)	not provided [RCV003672242]	likely benign	22	46353784	46353784	Human		name
405216619	CV2978120	single nucleotide variant	NM_018006.5(TRMU):c.840G>T (p.Val280=)	not provided [RCV003709404]	likely benign	22	46353834	46353834	Human		name
405228961	CV2980749	single nucleotide variant	NM_018006.5(TRMU):c.786T>C (p.Tyr262=)	not provided [RCV003711111]	likely benign	22	46353780	46353780	Human		name
402493679	CV2982086	single nucleotide variant	NM_018006.5(TRMU):c.783G>A (p.Leu261=)	TRMU-related disorder [RCV003948913]\|not provided [RCV003714027]	likely benign	22	46353777	46353777	Human	1	name , trait , alternate_id
405008921	CV2989997	single nucleotide variant	NM_018006.5(TRMU):c.897C>G (p.Ala299=)	not provided [RCV003693814]	likely benign	22	46355467	46355467	Human		name
405120223	CV2993986	single nucleotide variant	NM_018006.5(TRMU):c.594G>A (p.Glu198=)	not provided [RCV003723807]	likely benign	22	46350406	46350406	Human		name
405116305	CV2996571	single nucleotide variant	NM_018006.5(TRMU):c.882G>A (p.Arg294=)	not provided [RCV003723396]	likely benign	22	46355452	46355452	Human		name
402493011	CV3008427	single nucleotide variant	NM_018006.5(TRMU):c.963G>T (p.Leu321=)	not provided [RCV003687720]	likely benign	22	46355533	46355533	Human		name
405032050	CV3012722	single nucleotide variant	NM_018006.5(TRMU):c.534C>T (p.Ser178=)	not provided [RCV003695541]	likely benign	22	46350346	46350346	Human		name
405203038	CV3036388	single nucleotide variant	NM_018006.5(TRMU):c.804A>C (p.Ala268=)	not provided [RCV003707649]	likely benign	22	46353798	46353798	Human		name
405184443	CV3040236	single nucleotide variant	NM_018006.5(TRMU):c.441C>G (p.Pro147=)	not provided [RCV003705878]	likely benign	22	46346507	46346507	Human		name
405230003	CV3072925	deletion	NM_018006.5(TRMU):c.1018+19_1018+21del	not provided [RCV003734684]	likely benign	22	46355605	46355607	Human		name
405176806	CV3119339	single nucleotide variant	NM_018006.5(TRMU):c.438G>A (p.Lys146=)	not provided [RCV003819624]	likely benign	22	46346504	46346504	Human		name
405059790	CV3129454	single nucleotide variant	NM_018006.5(TRMU):c.609C>T (p.Ile203=)	not provided [RCV003832723]	likely benign	22	46350421	46350421	Human		name
405083563	CV3137592	single nucleotide variant	NM_018006.5(TRMU):c.972C>T (p.Asp324=)	not provided [RCV003834301]	likely benign	22	46355542	46355542	Human		name
405137498	CV3144715	single nucleotide variant	NM_018006.5(TRMU):c.441C>A (p.Pro147=)	not provided [RCV003855232]	likely benign	22	46346507	46346507	Human		name
405192796	CV3157222	single nucleotide variant	NM_018006.5(TRMU):c.849C>T (p.Asp283=)	not provided [RCV003859911]	likely benign	22	46353843	46353843	Human		name
405202362	CV3164980	single nucleotide variant	NM_018006.5(TRMU):c.960A>G (p.Ala320=)	not provided [RCV003860841]	likely benign	22	46355530	46355530	Human		name
405239593	CV3165963	single nucleotide variant	NM_018006.5(TRMU):c.876C>G (p.Ala292=)	not provided [RCV003866975]	likely benign	22	46355446	46355446	Human		name
405290361	CV3207482	single nucleotide variant	NM_018006.5(TRMU):c.342T>G (p.Ala114=)	TRMU-related disorder [RCV003927063]	likely benign	22	46343355	46343355	Human		name , trait , alternate_id
11629733	CV348073	single nucleotide variant	NM_018006.5(TRMU):c.927C>T (p.Arg309=)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000332386]\|TRMU-related disorder [RCV003957765]\|not provided [RCV000676762]	benign\|likely benign	22	46355497	46355497	Human	1	name , trait , alternate_id
407574458	CV3499469	single nucleotide variant	NM_018006.5(TRMU):c.49A>G (p.Ser17Gly)	Inborn genetic diseases [RCV004968596]\|not provided [RCV004719463]	uncertain significance	22	46335813	46335813	Human	1	name
11630554	CV352647	single nucleotide variant	NM_018006.5(TRMU):c.879C>T (p.Pro293=)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000352898]\|not provided [RCV000732857]	conflicting interpretations of pathogenicity\|uncertain significance	22	46355449	46355449	Human	1	name
408392968	CV3528320	single nucleotide variant	NM_018006.5(TRMU):c.77G>A (p.Arg26Gln)	not provided [RCV004776088]	uncertain significance	22	46335841	46335841	Human		name
12841896	CV377570	single nucleotide variant	NM_018006.5(TRMU):c.429C>T (p.His143=)	not provided [RCV000730535]\|not specified [RCV000433402]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	46346495	46346495	Human		name
12844034	CV378837	single nucleotide variant	NM_018006.5(TRMU):c.942G>A (p.Ala314=)	not specified [RCV000437282]	likely benign	22	46355512	46355512	Human		name
597883903	CV3799533	single nucleotide variant	NM_018006.5(TRMU):c.591A>G (p.Lys197=)	not provided [RCV005150200]	likely benign	22	46350403	46350403	Human		name
13515445	CV491567	single nucleotide variant	NM_018006.5(TRMU):c.954C>T (p.Pro318=)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001147599]\|not provided [RCV000594289]	conflicting interpretations of pathogenicity\|uncertain significance	22	46355524	46355524	Human	1	name
13517460	CV493035	single nucleotide variant	NM_018006.5(TRMU):c.579G>T (p.Gly193=)	TRMU-related disorder [RCV003900347]\|not provided [RCV000596542]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	46350391	46350391	Human	1	name , trait , alternate_id
13520241	CV493328	single nucleotide variant	NM_018006.5(TRMU):c.552C>A (p.Ala184=)	not provided [RCV000598482]	uncertain significance	22	46350364	46350364	Human		name
13536436	CV507712	single nucleotide variant	NM_018006.5(TRMU):c.576G>C (p.Leu192=)	TRMU-related disorder [RCV004754500]\|not provided [RCV000975583]\|not specified [RCV000608998]	likely benign	22	46350388	46350388	Human	1	name , trait , alternate_id
13538883	CV508207	single nucleotide variant	NM_018006.5(TRMU):c.768T>C (p.His256=)	not provided [RCV001400451]\|not specified [RCV000612492]	likely benign	22	46352326	46352326	Human		name
13786818	CV549073	single nucleotide variant	NM_018006.5(TRMU):c.40G>A (p.Gly14Ser)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000673121]\|Aminoglycoside-induced deafness [RCV002507175]\|TRMU-related disorder [RCV004754527]\|not provided [RCV001756140]	uncertain significance	22	46335804	46335804	Human	2	name , trait , alternate_id
13832880	CV584105	single nucleotide variant	NM_018006.5(TRMU):c.351T>C (p.Asn117=)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001277298]\|not provided [RCV000727972]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	46343364	46343364	Human	1	name
13833741	CV584979	single nucleotide variant	NM_018006.5(TRMU):c.891C>T (p.His297=)	not provided [RCV000729087]	uncertain significance	22	46355461	46355461	Human		name
13833948	CV585188	single nucleotide variant	NM_018006.5(TRMU):c.74G>A (p.Arg25Lys)	TRMU-related disorder [RCV003420292]\|not provided [RCV000729340]	uncertain significance	22	46335838	46335838	Human	1	name , trait , alternate_id
15137080	CV773590	single nucleotide variant	NM_018006.5(TRMU):c.753G>A (p.Lys251=)	not provided [RCV000943180]	likely benign	22	46352311	46352311	Human		name
15113390	CV786616	single nucleotide variant	NM_018006.5(TRMU):c.633T>C (p.His211=)	not provided [RCV000978011]	likely benign	22	46350445	46350445	Human		name
15101151	CV786617	single nucleotide variant	NM_018006.5(TRMU):c.672C>T (p.Ile224=)	not provided [RCV000975534]	likely benign	22	46352141	46352141	Human		name
15130898	CV786618	single nucleotide variant	NM_018006.5(TRMU):c.834C>T (p.Tyr278=)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001277299]\|not provided [RCV000981119]	likely benign\|uncertain significance	22	46353828	46353828	Human	1	name
127244403	CV1065053	deletion	NM_018006.5(TRMU):c.803del (p.Ala268fs)	Aminoglycoside-induced deafness [RCV002499800]\|Aminoglycoside-induced deafness [RCV003473951]\|not provided [RCV001384177]	pathogenic\|likely pathogenic	22	46353797	46353797	Human	1	name
127275181	CV1086057	single nucleotide variant	NM_018006.5(TRMU):c.1029G>A (p.Val343=)	not provided [RCV001406639]	likely benign	22	46356000	46356000	Human		name
127260045	CV1086058	single nucleotide variant	NM_018006.5(TRMU):c.1053C>A (p.Thr351=)	not provided [RCV001402106]	likely benign	22	46356024	46356024	Human		name
127282514	CV1086059	single nucleotide variant	NM_018006.5(TRMU):c.1179C>A (p.Leu393=)	not provided [RCV001411163]	likely benign	22	46356919	46356919	Human		name
127261835	CV1086060	single nucleotide variant	NM_018006.5(TRMU):c.1203G>A (p.Gly401=)	not provided [RCV001402498]	likely benign	22	46356943	46356943	Human		name
127282983	CV1107772	single nucleotide variant	NM_018006.5(TRMU):c.1002C>T (p.Arg334=)	not provided [RCV001448197]	likely benign	22	46355572	46355572	Human		name
127275423	CV1107776	single nucleotide variant	NM_018006.5(TRMU):c.1110G>A (p.Val370=)	not provided [RCV001443319]	likely benign	22	46356850	46356850	Human		name
127234594	CV1107777	single nucleotide variant	NM_018006.5(TRMU):c.1131C>T (p.Cys377=)	not provided [RCV001422088]	likely benign	22	46356871	46356871	Human		name
127239243	CV1107778	single nucleotide variant	NM_018006.5(TRMU):c.1140C>T (p.Ser380=)	not provided [RCV001423087]	likely benign	22	46356880	46356880	Human		name
127250776	CV1107779	single nucleotide variant	NM_018006.5(TRMU):c.1176G>T (p.Thr392=)	not provided [RCV001436443]	likely benign	22	46356916	46356916	Human		name
127300462	CV1129187	single nucleotide variant	NM_018006.5(TRMU):c.1230C>T (p.Ser410=)	not provided [RCV001461106]	likely benign	22	46356970	46356970	Human		name
127309602	CV1129188	single nucleotide variant	NM_018006.5(TRMU):c.1242T>G (p.Gly414=)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001826295]\|not provided [RCV001463670]	likely benign	22	46356982	46356982	Human	1	name
127300643	CV1129189	single nucleotide variant	NM_018006.5(TRMU):c.1257C>T (p.Pro419=)	not provided [RCV001453944]	likely benign	22	46356997	46356997	Human		name
127310147	CV1150175	single nucleotide variant	NM_018006.5(TRMU):c.1132C>T (p.Leu378=)	not provided [RCV001481078]	likely benign	22	46356872	46356872	Human		name
127292402	CV1150176	single nucleotide variant	NM_018006.5(TRMU):c.1239T>C (p.Asp413=)	not provided [RCV001496490]	likely benign	22	46356979	46356979	Human		name
8691458	CV141418	single nucleotide variant	NM_018006.5(TRMU):c.1176G>A (p.Thr392=)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000344055]\|not provided [RCV000676763]\|not specified [RCV000125605]	benign	22	46356916	46356916	Human	1	name
151754270	CV1429526	duplication	NM_018006.5(TRMU):c.732dup (p.Ile245fs)	not provided [RCV002007171]	pathogenic	22	46352287	46352288	Human		name
151885773	CV1445074	duplication	NM_018006.5(TRMU):c.418dup (p.Glu140fs)	not provided [RCV001942023]	pathogenic	22	46346483	46346484	Human		name
151835497	CV1463404	deletion	NM_018006.5(TRMU):c.597del (p.Phe199fs)	not provided [RCV001880739]	pathogenic	22	46350407	46350407	Human		name
151770489	CV1502472	duplication	NM_018006.5(TRMU):c.749dup (p.Asn250fs)	not provided [RCV001896290]	pathogenic	22	46352305	46352306	Human		name
152108510	CV1529985	single nucleotide variant	NM_018006.5(TRMU):c.1149C>T (p.Ile383=)	not provided [RCV002196466]	likely benign	22	46356889	46356889	Human		name
152162294	CV1543920	single nucleotide variant	NM_018006.5(TRMU):c.1161G>T (p.Gly387=)	not provided [RCV002159856]	likely benign	22	46356901	46356901	Human		name
152032199	CV1548946	single nucleotide variant	NM_018006.5(TRMU):c.1263C>G (p.Leu421=)	not provided [RCV002086530]	likely benign	22	46357003	46357003	Human		name
152119246	CV1575984	single nucleotide variant	NM_018006.5(TRMU):c.1149C>A (p.Ile383=)	not provided [RCV002197821]	likely benign	22	46356889	46356889	Human		name
152156236	CV1589477	single nucleotide variant	NM_018006.5(TRMU):c.1249C>T (p.Leu417=)	not provided [RCV002122471]	likely benign	22	46356989	46356989	Human		name
152045760	CV1600205	single nucleotide variant	NM_018006.5(TRMU):c.1167T>A (p.Ser389=)	not provided [RCV002088531]	likely benign	22	46356907	46356907	Human		name
152115147	CV1600470	single nucleotide variant	NM_018006.5(TRMU):c.1156C>T (p.Leu386=)	not provided [RCV002097376]	likely benign	22	46356896	46356896	Human		name
152076677	CV1604569	single nucleotide variant	NM_018006.5(TRMU):c.1185G>A (p.Lys395=)	not provided [RCV002092316]	likely benign	22	46356925	46356925	Human		name
152061166	CV1618421	single nucleotide variant	NM_018006.5(TRMU):c.1233A>T (p.Pro411=)	not provided [RCV002090270]	likely benign	22	46356973	46356973	Human		name
152052716	CV1622700	single nucleotide variant	NM_018006.5(TRMU):c.1086C>T (p.Ala362=)	not provided [RCV002207719]	likely benign	22	46356057	46356057	Human		name
8595369	CV16330	single nucleotide variant	NM_018006.5(TRMU):c.229T>C (p.Tyr77His)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000001354]\|Aminoglycoside-induced deafness [RCV003472956]\|Aminoglycoside-induced deafness [RCV005024985]\|TRMU-related disorder [RCV003944789]\|not provided [RCV001851536]	pathogenic	22	46337925	46337925	Human	2	name , trait , alternate_id
152083673	CV1647919	single nucleotide variant	NM_018006.5(TRMU):c.1065A>C (p.Thr355=)	not provided [RCV002076704]	likely benign	22	46356036	46356036	Human		name
155266544	CV1699113	deletion	NM_018006.5(TRMU):c.882del (p.Thr295fs)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV002282908]\|Aminoglycoside-induced deafness [RCV003475326]\|Aminoglycoside-induced deafness [RCV005032218]	likely pathogenic	22	46355451	46355451	Human	2	name
156397464	CV1871113	single nucleotide variant	NM_018006.5(TRMU):c.278G>A (p.Arg93Lys)	not provided [RCV003068790]	uncertain significance	22	46343291	46343291	Human		name
156402672	CV1885474	duplication	NM_018006.5(TRMU):c.581dup (p.Leu195fs)	Aminoglycoside-induced deafness [RCV003475505]\|Aminoglycoside-induced deafness [RCV005028196]\|not provided [RCV003069319]	pathogenic\|likely pathogenic	22	46350387	46350388	Human	1	name
156016903	CV1918381	single nucleotide variant	NM_018006.5(TRMU):c.1014A>C (p.Ala338=)	not provided [RCV002636512]	likely benign	22	46355584	46355584	Human		name
156056920	CV1928803	single nucleotide variant	NM_018006.5(TRMU):c.244T>G (p.Phe82Val)	not provided [RCV002620804]	likely pathogenic	22	46337940	46337940	Human		name
156440261	CV1946622	single nucleotide variant	NM_018006.5(TRMU):c.1150C>T (p.Leu384=)	not provided [RCV003110292]	likely benign	22	46356890	46356890	Human		name
156228390	CV1958988	duplication	NM_018006.5(TRMU):c.880dup (p.Arg294fs)	not provided [RCV002596713]	pathogenic	22	46355444	46355445	Human		name
156159064	CV1984292	single nucleotide variant	NM_018006.5(TRMU):c.1188C>T (p.Gly396=)	not provided [RCV002642336]	likely benign	22	46356928	46356928	Human		name
156009932	CV1991669	single nucleotide variant	NM_018006.5(TRMU):c.1257C>G (p.Pro419=)	not provided [RCV002618852]	likely benign	22	46356997	46356997	Human		name
156019721	CV2019279	single nucleotide variant	NM_018006.5(TRMU):c.1119G>A (p.Lys373=)	not provided [RCV002690941]	likely benign	22	46356859	46356859	Human		name
156169002	CV2056739	single nucleotide variant	NM_018006.5(TRMU):c.1023C>T (p.Pro341=)	not provided [RCV002801897]	likely benign	22	46355994	46355994	Human		name
156131550	CV2113023	duplication	NM_018006.5(TRMU):c.584dup (p.Leu195fs)	not provided [RCV002928220]	pathogenic	22	46350394	46350395	Human		name
10409859	CV211944	single nucleotide variant	NM_018006.5(TRMU):c.118G>C (p.Asp40His)	not provided [RCV000196998]	uncertain significance	22	46337814	46337814	Human		name
10411220	CV211945	single nucleotide variant	NM_018006.5(TRMU):c.238G>A (p.Asp80Asn)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001150844]\|not provided [RCV000892974]\|not specified [RCV000199813]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	46337934	46337934	Human	1	name
10409516	CV211946	single nucleotide variant	NM_018006.5(TRMU):c.272A>G (p.Lys91Arg)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000291761]\|not provided [RCV000923546]\|not specified [RCV000196270]	benign\|likely benign\|uncertain significance	22	46343285	46343285	Human	1	name
10409960	CV211954	duplication	NM_018006.5(TRMU):c.954dup (p.Ala319fs)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000578236]\|Aminoglycoside-induced deafness [RCV003474951]\|not provided [RCV000197202]	pathogenic\|conflicting interpretations of pathogenicity	22	46355521	46355522	Human	3	name
156303042	CV2166695	single nucleotide variant	NM_018006.5(TRMU):c.1221C>T (p.Pro407=)	not provided [RCV003045643]	likely benign	22	46356961	46356961	Human		name
156251390	CV2174634	single nucleotide variant	NM_018006.5(TRMU):c.1203G>C (p.Gly401=)	not provided [RCV003043800]	likely benign	22	46356943	46356943	Human		name
156113997	CV2177586	duplication	NM_018006.5(TRMU):c.882dup (p.Thr295fs)	not provided [RCV003055201]	pathogenic	22	46355450	46355451	Human		name
156395923	CV2178111	single nucleotide variant	NM_018006.5(TRMU):c.184C>T (p.Gln62Ter)	not provided [RCV003051843]	pathogenic	22	46337880	46337880	Human		name
156092853	CV2183323	single nucleotide variant	NM_018006.5(TRMU):c.1095A>G (p.Thr365=)	not provided [RCV003054425]	likely benign	22	46356066	46356066	Human		name
156399042	CV2187682	deletion	NM_018006.5(TRMU):c.397del (p.Leu133fs)	Aminoglycoside-induced deafness [RCV003475479]\|not provided [RCV003052141]	pathogenic\|likely pathogenic	22	46346461	46346461	Human	1	name
156170593	CV2312519	single nucleotide variant	NM_018006.5(TRMU):c.295A>G (p.Ile99Val)	Inborn genetic diseases [RCV002916532]	uncertain significance	22	46343308	46343308	Human	1	name
243054842	CV2408200	duplication	NM_018006.5(TRMU):c.711dup (p.Gln238fs)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV003131773]\|not provided [RCV003561182]	pathogenic\|likely pathogenic	22	46352268	46352269	Human	1	name
243064220	CV2411267	single nucleotide variant	NM_018006.5(TRMU):c.169G>T (p.Ala57Ser)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV003142839]	uncertain significance	22	46337865	46337865	Human	1	name
329399174	CV2436322	single nucleotide variant	NM_018006.5(TRMU):c.264G>T (p.Glu88Asp)	Inborn genetic diseases [RCV003196531]	uncertain significance	22	46343277	46343277	Human	1	name
11640848	CV268052	single nucleotide variant	NM_018006.5(TRMU):c.289C>T (p.Pro97Ser)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001332216]\|not provided [RCV000346348]	uncertain significance	22	46343302	46343302	Human	1	name
11638478	CV271043	single nucleotide variant	NM_018006.5(TRMU):c.146C>T (p.Thr49Ile)	not provided [RCV000303183]	uncertain significance	22	46337842	46337842	Human		name
11642091	CV271100	single nucleotide variant	NM_018006.5(TRMU):c.296T>C (p.Ile99Thr)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001277297]\|TRMU-related disorder [RCV003920113]\|not provided [RCV000367714]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	46343309	46343309	Human	1	name , trait , alternate_id
401797540	CV2742298	single nucleotide variant	NM_018006.5(TRMU):c.1017A>G (p.Leu339=)	not provided [RCV003324479]	not provided	22	46355587	46355587	Human		name
401949330	CV2836850	deletion	NM_018006.5(TRMU):c.458del (p.Asn153fs)	Aminoglycoside-induced deafness [RCV003474165]\|not provided [RCV003720930]	pathogenic\|likely pathogenic	22	46346522	46346522	Human	1	name
401949335	CV2836855	duplication	NM_018006.5(TRMU):c.575dup (p.Leu195fs)	Aminoglycoside-induced deafness [RCV003474170]	likely pathogenic	22	46350386	46350387	Human	1	name
401949337	CV2836857	deletion	NM_018006.5(TRMU):c.925del (p.Arg309fs)	Aminoglycoside-induced deafness [RCV003474172]	likely pathogenic	22	46355494	46355494	Human	1	name
401949338	CV2836858	single nucleotide variant	NM_018006.5(TRMU):c.231T>A (p.Tyr77Ter)	Aminoglycoside-induced deafness [RCV003474173]	likely pathogenic	22	46337927	46337927	Human	1	name
401949343	CV2836863	deletion	NM_018006.5(TRMU):c.591del (p.Glu198fs)	Aminoglycoside-induced deafness [RCV003474178]	likely pathogenic	22	46350401	46350401	Human	1	name
401949345	CV2836865	duplication	NM_018006.5(TRMU):c.380dup (p.His127fs)	Aminoglycoside-induced deafness [RCV003474180]	likely pathogenic	22	46346445	46346446	Human	1	name
401949347	CV2836867	duplication	NM_018006.5(TRMU):c.660dup (p.Met221fs)	Aminoglycoside-induced deafness [RCV003474182]	likely pathogenic	22	46352128	46352129	Human	1	name
401949349	CV2836869	duplication	NM_018006.5(TRMU):c.5_27dup (p.Ala10fs)	Aminoglycoside-induced deafness [RCV003474184]	likely pathogenic	22	46335765	46335766	Human	1	name
405867147	CV2842669	single nucleotide variant	NM_018006.5(TRMU):c.220G>A (p.Val74Ile)	EBV-positive nodal T- and NK-cell lymphoma [RCV004558026]\|not provided [RCV005001384]	likely benign\|uncertain significance	22	46337916	46337916	Human		name
405089642	CV2859270	single nucleotide variant	NM_018006.5(TRMU):c.1089T>C (p.Leu363=)	not provided [RCV003549811]	likely benign	22	46356060	46356060	Human		name
405045794	CV2859732	single nucleotide variant	NM_018006.5(TRMU):c.1200T>G (p.Ala400=)	not provided [RCV003579318]	likely benign	22	46356940	46356940	Human		name
402517652	CV2870768	single nucleotide variant	NM_018006.5(TRMU):c.1080G>A (p.Val360=)	not provided [RCV003547521]	likely benign	22	46356051	46356051	Human		name
402493934	CV2887218	single nucleotide variant	NM_018006.5(TRMU):c.1260G>A (p.Leu420=)	not provided [RCV003573295]	likely benign	22	46357000	46357000	Human		name
405062892	CV2927137	duplication	NM_018006.5(TRMU):c.173dup (p.Tyr58Ter)	Aminoglycoside-induced deafness [RCV005030137]\|not provided [RCV003580603]	pathogenic\|likely pathogenic	22	46337868	46337869	Human	1	name
402506436	CV2927925	single nucleotide variant	NM_018006.5(TRMU):c.1035C>A (p.Thr345=)	not provided [RCV003574505]	likely benign	22	46356006	46356006	Human		name
405038553	CV2929727	duplication	NM_018006.5(TRMU):c.806dup (p.Asn269fs)	not provided [RCV003578927]	pathogenic	22	46353797	46353798	Human		name
405100641	CV2947975	single nucleotide variant	NM_018006.5(TRMU):c.1122G>T (p.Gly374=)	not provided [RCV003666019]	likely benign	22	46356862	46356862	Human		name
405171177	CV2961300	single nucleotide variant	NM_018006.5(TRMU):c.1203G>T (p.Gly401=)	not provided [RCV003675431]	likely benign	22	46356943	46356943	Human		name
405245806	CV2965531	single nucleotide variant	NM_018006.5(TRMU):c.1221C>G (p.Pro407=)	not provided [RCV003685267]	likely benign	22	46356961	46356961	Human		name
405221480	CV2966206	single nucleotide variant	NM_018006.5(TRMU):c.1107T>C (p.Ala369=)	not provided [RCV003680755]	likely benign	22	46356847	46356847	Human		name
405225195	CV2979450	deletion	NM_018006.5(TRMU):c.695del (p.Phe232fs)	not provided [RCV003681224]	pathogenic	22	46352162	46352162	Human		name
405238934	CV2996913	single nucleotide variant	NM_018006.5(TRMU):c.1146G>A (p.Lys382=)	not provided [RCV003718755]	likely benign	22	46356886	46356886	Human		name
402481671	CV3001048	single nucleotide variant	NM_018006.5(TRMU):c.1065A>G (p.Thr355=)	not provided [RCV003686597]	likely benign	22	46356036	46356036	Human		name
405241135	CV3004682	duplication	NM_018006.5(TRMU):c.936dup (p.Ile313fs)	not provided [RCV003719235]	pathogenic	22	46355504	46355505	Human		name
405092326	CV3026038	single nucleotide variant	NM_018006.5(TRMU):c.1170C>T (p.Ala390=)	not provided [RCV003699819]	likely benign	22	46356910	46356910	Human		name
405120421	CV3027152	single nucleotide variant	NM_018006.5(TRMU):c.234G>A (p.Trp78Ter)	Aminoglycoside-induced deafness [RCV005036947]\|not provided [RCV003700699]	pathogenic\|likely pathogenic	22	46337930	46337930	Human	1	name
405237330	CV3080947	single nucleotide variant	NM_018006.5(TRMU):c.1191G>A (p.Gln397=)	not provided [RCV003736140]	likely benign	22	46356931	46356931	Human		name
402470973	CV3171455	single nucleotide variant	NM_018006.5(TRMU):c.1104T>C (p.Phe368=)	not provided [RCV003874239]	likely benign	22	46356844	46356844	Human		name
11620774	CV338473	single nucleotide variant	NM_018006.5(TRMU):c.1218C>T (p.Ser406=)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000340768]\|not provided [RCV000733382]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	46356958	46356958	Human	1	name
405869949	CV3399623	deletion	NM_018006.5(TRMU):c.333del (p.His112fs)	Aminoglycoside-induced deafness [RCV004573768]	likely pathogenic	22	46343341	46343341	Human	1	name
405869952	CV3399626	deletion	NM_018006.5(TRMU):c.994del (p.Arg332fs)	Aminoglycoside-induced deafness [RCV004573771]	likely pathogenic	22	46355563	46355563	Human	1	name
11627788	CV348075	single nucleotide variant	NM_018006.5(TRMU):c.1164G>A (p.Pro388=)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000289123]\|TRMU-related disorder [RCV003950188]\|not provided [RCV000930590]\|not specified [RCV000600160]	likely benign\|uncertain significance	22	46356904	46356904	Human	1	name , trait , alternate_id
407501819	CV3495630	single nucleotide variant	NM_018006.5(TRMU):c.287A>G (p.Asn96Ser)	Aminoglycoside-induced deafness [RCV005038783]\|not provided [RCV004697470]	likely pathogenic	22	46343300	46343300	Human	1	name
11631597	CV351784	single nucleotide variant	NM_018006.5(TRMU):c.1158G>A (p.Leu386=)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000383270]\|not provided [RCV000913102]\|not specified [RCV000731734]	benign\|likely benign\|uncertain significance	22	46356898	46356898	Human	1	name
11631499	CV351785	single nucleotide variant	NM_018006.5(TRMU):c.1188C>G (p.Gly396=)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000379952]\|not provided [RCV000928706]	likely benign\|uncertain significance	22	46356928	46356928	Human	1	name
11662414	CV352645	single nucleotide variant	NM_018006.5(TRMU):c.271A>G (p.Lys91Glu)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000385925]	uncertain significance	22	46343284	46343284	Human	1	name
597712088	CV3727273	single nucleotide variant	NM_018006.5(TRMU):c.219C>A (p.Tyr73Ter)	Aminoglycoside-induced deafness [RCV005034847]	likely pathogenic	22	46337915	46337915	Human	1	name
597711759	CV3727275	deletion	NM_018006.5(TRMU):c.564del (p.Ile189fs)	Aminoglycoside-induced deafness [RCV005034848]	likely pathogenic	22	46350375	46350375	Human	1	name
597879842	CV3783532	deletion	NM_018006.5(TRMU):c.707del (p.Tyr236fs)	not provided [RCV005124028]	pathogenic	22	46352265	46352265	Human		name
12849130	CV378755	single nucleotide variant	NM_018006.5(TRMU):c.246C>G (p.Phe82Leu)	not provided [RCV000424646]	likely pathogenic	22	46337942	46337942	Human		name
597939805	CV3836536	single nucleotide variant	NM_018006.5(TRMU):c.119A>T (p.Asp40Val)	not provided [RCV005187557]	uncertain significance	22	46337815	46337815	Human		name
598158443	CV3896709	deletion	NM_018006.5(TRMU):c.513del (p.Asp172fs)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV005367859]	likely pathogenic	22	46350323	46350323	Human	1	name
12906188	CV415720	single nucleotide variant	NM_018006.5(TRMU):c.215C>T (p.Ser72Phe)	not provided [RCV000488925]	likely pathogenic	22	46337911	46337911	Human		name
13522999	CV491018	single nucleotide variant	NM_018006.5(TRMU):c.172T>C (p.Tyr58His)	TRMU-related disorder [RCV004754487]\|not provided [RCV000592455]	uncertain significance	22	46337868	46337868	Human	1	name , trait , alternate_id
13518384	CV492445	single nucleotide variant	NM_018006.5(TRMU):c.124C>A (p.Leu42Met)	not provided [RCV000597348]	uncertain significance	22	46337820	46337820	Human		name
13538080	CV507614	single nucleotide variant	NM_018006.5(TRMU):c.1062G>A (p.Val354=)	not provided [RCV001412218]	likely benign	22	46356033	46356033	Human		name
13592667	CV507714	single nucleotide variant	NM_018006.5(TRMU):c.1053C>T (p.Thr351=)	TRMU-related disorder [RCV003953025]\|not provided [RCV000942601]	likely benign	22	46356024	46356024	Human	1	name , trait , alternate_id
13790350	CV549077	deletion	NM_018006.5(TRMU):c.880del (p.Arg294fs)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000674989]\|Aminoglycoside-induced deafness [RCV003472178]\|not provided [RCV003768017]	pathogenic\|likely pathogenic	22	46355445	46355445	Human	2	name
13832895	CV584120	single nucleotide variant	NM_018006.5(TRMU):c.182G>T (p.Cys61Phe)	not provided [RCV000727988]	uncertain significance	22	46337878	46337878	Human		name
13834197	CV585441	single nucleotide variant	NM_018006.5(TRMU):c.199C>T (p.Pro67Ser)	Inborn genetic diseases [RCV005298600]\|not provided [RCV000729649]	uncertain significance	22	46337895	46337895	Human	1	name
13836129	CV587399	single nucleotide variant	NM_018006.5(TRMU):c.191T>C (p.Leu64Ser)	not provided [RCV000732138]	uncertain significance	22	46337887	46337887	Human		name
13836980	CV588263	duplication	NM_018006.5(TRMU):c.333dup (p.His112fs)	Aminoglycoside-induced deafness [RCV002499369]\|Aminoglycoside-induced deafness [RCV003472267]\|not provided [RCV000733251]	pathogenic\|likely pathogenic	22	46343340	46343341	Human	1	name
14703316	CV649538	deletion	NM_018006.5(TRMU):c.490del (p.Leu164fs)	not provided [RCV000793203]	pathogenic	22	46350301	46350301	Human		name
15147809	CV773592	single nucleotide variant	NM_018006.5(TRMU):c.1035C>T (p.Thr345=)	not provided [RCV000944998]	likely benign	22	46356006	46356006	Human		name
15117696	CV786619	single nucleotide variant	NM_018006.5(TRMU):c.1125C>T (p.Asp375=)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001827088]\|not provided [RCV000978812]	likely benign	22	46356865	46356865	Human	1	name
15101978	CV786620	single nucleotide variant	NM_018006.5(TRMU):c.1137C>T (p.Gly379=)	not provided [RCV000975706]	likely benign	22	46356877	46356877	Human		name
15135775	CV786621	single nucleotide variant	NM_018006.5(TRMU):c.1152G>A (p.Leu384=)	not provided [RCV000981989]	likely benign	22	46356892	46356892	Human		name
15121791	CV786622	single nucleotide variant	NM_018006.5(TRMU):c.1227C>T (p.Asp409=)	not provided [RCV000979530]	likely benign	22	46356967	46356967	Human		name
26892312	CV849393	single nucleotide variant	NM_018006.5(TRMU):c.117G>A (p.Trp39Ter)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001250082]\|Aminoglycoside-induced deafness [RCV003473679]\|not provided [RCV001061663]	pathogenic	22	46337813	46337813	Human	2	name
26903090	CV849394	deletion	NM_018006.5(TRMU):c.581del (p.Gly194fs)	Aminoglycoside-induced deafness [RCV003473697]\|not provided [RCV001069640]	pathogenic\|likely pathogenic	22	46350388	46350388	Human	1	name
28885374	CV891429	single nucleotide variant	NM_018006.5(TRMU):c.175A>G (p.Arg59Gly)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001150843]	uncertain significance	22	46337871	46337871	Human	1	name
38471183	CV951490	deletion	NM_018006.5(TRMU):c.417del (p.Phe139fs)	not provided [RCV001231997]	pathogenic	22	46346481	46346481	Human		name
38471218	CV951491	deletion	NM_018006.5(TRMU):c.958del (p.Ala320fs)	not provided [RCV001236624]	pathogenic	22	46355528	46355528	Human		name
127260988	CV1065051	single nucleotide variant	NM_018006.5(TRMU):c.703C>T (p.Gln235Ter)	Aminoglycoside-induced deafness [RCV003473926]\|not provided [RCV001380458]	pathogenic\|likely pathogenic	22	46352172	46352172	Human	1	name
150424379	CV1185697	single nucleotide variant	NM_018006.5(TRMU):c.673G>A (p.Gly225Arg)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001827466]\|not provided [RCV001556582]	uncertain significance	22	46352142	46352142	Human	1	name
8691452	CV141412	single nucleotide variant	NM_018006.5(TRMU):c.442G>A (p.Glu148Lys)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000402627]\|not provided [RCV000676760]\|not specified [RCV000125599]	benign\|likely benign	22	46346508	46346508	Human	1	name
8691453	CV141413	single nucleotide variant	NM_018006.5(TRMU):c.479C>T (p.Ala160Val)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000341568]\|not provided [RCV000958255]\|not specified [RCV000125600]	benign\|likely benign	22	46350291	46350291	Human	1	name
151822186	CV1415661	single nucleotide variant	NM_018006.5(TRMU):c.943G>T (p.Glu315Ter)	not provided [RCV001900994]	pathogenic	22	46355513	46355513	Human		name
8595370	CV16332	single nucleotide variant	NM_018006.5(TRMU):c.815G>A (p.Gly272Asp)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000001356]	pathogenic	22	46353809	46353809	Human	1	name
155937051	CV1867452	single nucleotide variant	NM_018006.5(TRMU):c.577G>T (p.Gly193Trp)	Inborn genetic diseases [RCV004064279]\|not provided [RCV002509924]	uncertain significance	22	46350389	46350389	Human	1	name
156251594	CV1967232	single nucleotide variant	NM_018006.5(TRMU):c.800G>C (p.Arg267Thr)	not provided [RCV002597486]	uncertain significance	22	46353794	46353794	Human		name
156299733	CV2001972	single nucleotide variant	NM_018006.5(TRMU):c.665G>A (p.Cys222Tyr)	Inborn genetic diseases [RCV003269235]\|not provided [RCV002671106]	uncertain significance	22	46352134	46352134	Human	1	name
156257011	CV2003956	duplication	NM_018006.5(TRMU):c.1062dup (p.Thr355fs)	not provided [RCV002627637]	pathogenic	22	46356032	46356033	Human		name
156238461	CV2090307	single nucleotide variant	NM_018006.5(TRMU):c.409G>T (p.Glu137Ter)	not provided [RCV002894824]	pathogenic	22	46346475	46346475	Human		name
10411358	CV211947	single nucleotide variant	NM_018006.5(TRMU):c.430G>A (p.Val144Ile)	Inborn genetic diseases [RCV002515443]\|TRMU-related disorder [RCV004754350]\|not provided [RCV005090012]\|not specified [RCV000200100]	likely benign\|uncertain significance	22	46346496	46346496	Human	2	name , trait , alternate_id
10409303	CV211948	single nucleotide variant	NM_018006.5(TRMU):c.469G>A (p.Val157Ile)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001144726]\|not provided [RCV005230060]	likely benign\|uncertain significance	22	46346535	46346535	Human	1	name
10410580	CV211949	single nucleotide variant	NM_018006.5(TRMU):c.538G>T (p.Val180Phe)	not provided [RCV000198478]	likely pathogenic	22	46350350	46350350	Human		name
10411490	CV211950	single nucleotide variant	NM_018006.5(TRMU):c.718C>T (p.Arg240Ter)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001273736]\|Aminoglycoside-induced deafness [RCV003474950]\|not provided [RCV000200369]	pathogenic	22	46352276	46352276	Human	2	name
10409440	CV211952	single nucleotide variant	NM_018006.5(TRMU):c.925C>T (p.Arg309Cys)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001833154]\|Inborn genetic diseases [RCV004020430]\|not provided [RCV000734199]	uncertain significance	22	46355495	46355495	Human	2	name
10410692	CV211953	single nucleotide variant	NM_018006.5(TRMU):c.941C>T (p.Ala314Val)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001833155]\|not provided [RCV000198688]	uncertain significance	22	46355511	46355511	Human	1	name
10410218	CV211955	single nucleotide variant	NM_018006.5(TRMU):c.968G>A (p.Arg323Gln)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001147600]\|Aminoglycoside-induced deafness [RCV005396598]\|Inborn genetic diseases [RCV004020429]\|not provided [RCV000728804]	likely benign\|uncertain significance	22	46355538	46355538	Human	3	name
10408669	CV213662	single nucleotide variant	NM_018006.5(TRMU):c.758T>C (p.Leu253Pro)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000196798]	likely pathogenic	22	46352316	46352316	Human	1	name
155953858	CV2143801	single nucleotide variant	NM_018006.5(TRMU):c.967C>T (p.Arg323Trp)	not provided [RCV002994784]	uncertain significance	22	46355537	46355537	Human		name
156276572	CV2164434	deletion	NM_018006.5(TRMU):c.1045del (p.Asp349fs)	not provided [RCV003027172]	pathogenic	22	46356016	46356016	Human		name
156357037	CV2188967	single nucleotide variant	NM_018006.5(TRMU):c.463T>C (p.Phe155Leu)	not provided [RCV003048759]	uncertain significance	22	46346529	46346529	Human		name
155923143	CV2215480	single nucleotide variant	NM_018006.5(TRMU):c.524T>C (p.Phe175Ser)	Inborn genetic diseases [RCV002727726]	uncertain significance	22	46350336	46350336	Human	1	name
156139697	CV2246905	single nucleotide variant	NM_018006.5(TRMU):c.437A>G (p.Lys146Arg)	Inborn genetic diseases [RCV002763452]	likely benign	22	46346503	46346503	Human	1	name
155957506	CV2282079	single nucleotide variant	NM_018006.5(TRMU):c.404A>G (p.Asp135Gly)	Inborn genetic diseases [RCV002840987]	uncertain significance	22	46346470	46346470	Human	1	name
156288737	CV2309608	single nucleotide variant	NM_018006.5(TRMU):c.988C>T (p.His330Tyr)	Inborn genetic diseases [RCV002897018]	uncertain significance	22	46355558	46355558	Human	1	name
329369060	CV2424646	single nucleotide variant	NM_018006.5(TRMU):c.629A>T (p.His210Leu)	Inborn genetic diseases [RCV003183729]	uncertain significance	22	46350441	46350441	Human	1	name
329379953	CV2466335	single nucleotide variant	NM_018006.5(TRMU):c.881G>A (p.Arg294Gln)	Inborn genetic diseases [RCV003212626]	uncertain significance	22	46355451	46355451	Human	1	name
401757685	CV2675454	single nucleotide variant	NM_018006.5(TRMU):c.749A>G (p.Asn250Ser)	Inborn genetic diseases [RCV003279464]	uncertain significance	22	46352307	46352307	Human	1	name
11641629	CV274112	single nucleotide variant	NM_018006.5(TRMU):c.750T>A (p.Asn250Lys)	not provided [RCV000360260]	uncertain significance	22	46352308	46352308	Human		name
401879889	CV2788546	single nucleotide variant	NM_018006.5(TRMU):c.824A>C (p.Glu275Ala)	Inborn genetic diseases [RCV003384814]	uncertain significance	22	46353818	46353818	Human	1	name
401932703	CV2804404	single nucleotide variant	NM_018006.5(TRMU):c.993C>G (p.Phe331Leu)	TRMU-related disorder [RCV003408791]	uncertain significance	22	46355563	46355563	Human		name , trait , alternate_id
401921975	CV2819683	single nucleotide variant	NM_018006.5(TRMU):c.872T>C (p.Val291Ala)	not provided [RCV003433298]	uncertain significance	22	46353866	46353866	Human		name
401949328	CV2836848	single nucleotide variant	NM_018006.5(TRMU):c.544C>T (p.Gln182Ter)	Aminoglycoside-induced deafness [RCV003474163]\|not provided [RCV003708818]	pathogenic\|likely pathogenic	22	46350356	46350356	Human	1	name
401949339	CV2836859	single nucleotide variant	NM_018006.5(TRMU):c.903C>A (p.Tyr301Ter)	Aminoglycoside-induced deafness [RCV003474174]\|Aminoglycoside-induced deafness [RCV005036826]	likely pathogenic	22	46355473	46355473	Human	1	name
401949341	CV2836861	single nucleotide variant	NM_018006.5(TRMU):c.830G>A (p.Trp277Ter)	Aminoglycoside-induced deafness [RCV003474176]	likely pathogenic	22	46353824	46353824	Human	1	name
401949351	CV2836871	single nucleotide variant	NM_018006.5(TRMU):c.777G>A (p.Trp259Ter)	Aminoglycoside-induced deafness [RCV003474186]	likely pathogenic	22	46353771	46353771	Human	1	name
404977755	CV2851311	single nucleotide variant	NM_018006.5(TRMU):c.319T>C (p.Phe107Leu)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV003486278]	uncertain significance	22	46343332	46343332	Human	1	name
405244957	CV2972723	duplication	NM_018006.5(TRMU):c.417dup (p.Glu140Ter)	not provided [RCV003685005]	pathogenic	22	46346480	46346481	Human		name
405116198	CV2996557	single nucleotide variant	NM_018006.5(TRMU):c.712C>T (p.Gln238Ter)	not provided [RCV003723385]	pathogenic	22	46352270	46352270	Human		name
402496470	CV3005878	single nucleotide variant	NM_018006.5(TRMU):c.946G>T (p.Glu316Ter)	not provided [RCV003688062]	pathogenic	22	46355516	46355516	Human		name
402499923	CV3013015	single nucleotide variant	NM_018006.5(TRMU):c.935G>A (p.Trp312Ter)	not provided [RCV003688385]	pathogenic	22	46355505	46355505	Human		name
405118635	CV3030513	microsatellite	NM_018006.5(TRMU):c.81_82del (p.Gly28fs)	not provided [RCV003700512]	pathogenic	22	46335842	46335843	Human		name
405184839	CV3156059	single nucleotide variant	NM_018006.5(TRMU):c.936G>A (p.Trp312Ter)	not provided [RCV003859133]	pathogenic	22	46355506	46355506	Human		name
405281115	CV3223898	single nucleotide variant	NM_018006.5(TRMU):c.554T>C (p.Leu185Pro)	not specified [RCV003988276]	uncertain significance	22	46350366	46350366	Human		name
405760458	CV3344163	single nucleotide variant	NM_018006.5(TRMU):c.317A>G (p.Lys106Arg)	Inborn genetic diseases [RCV004468528]	uncertain significance	22	46343330	46343330	Human	1	name
11617718	CV338464	single nucleotide variant	NM_018006.5(TRMU):c.461G>A (p.Arg154Gln)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000307081]\|Inborn genetic diseases [RCV004965432]\|not provided [RCV000593850]	uncertain significance	22	46346527	46346527	Human	2	name
11617146	CV338467	single nucleotide variant	NM_018006.5(TRMU):c.853G>A (p.Val285Ile)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000301742]\|Inborn genetic diseases [RCV004021868]\|TRMU-related disorder [RCV003910344]\|not provided [RCV000597427]	likely benign\|uncertain significance	22	46353847	46353847	Human	2	name , trait , alternate_id
11614026	CV338470	single nucleotide variant	NM_018006.5(TRMU):c.952C>G (p.Pro318Ala)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000273861]\|Inborn genetic diseases [RCV004678687]\|not provided [RCV000733461]	uncertain significance	22	46355522	46355522	Human	2	name
405869947	CV3399622	deletion	NM_018006.5(TRMU):c.31_32del (p.Leu11fs)	Aminoglycoside-induced deafness [RCV004573767]	likely pathogenic	22	46335795	46335796	Human	1	name
11644723	CV348071	single nucleotide variant	NM_018006.5(TRMU):c.865G>A (p.Val289Met)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000261631]	uncertain significance	22	46353859	46353859	Human	1	name
407454310	CV3488716	single nucleotide variant	NM_018006.5(TRMU):c.787A>G (p.Thr263Ala)	Inborn genetic diseases [RCV004685006]	uncertain significance	22	46353781	46353781	Human	1	name
407454309	CV3490908	single nucleotide variant	NM_018006.5(TRMU):c.413T>C (p.Val138Ala)	Inborn genetic diseases [RCV004685005]	uncertain significance	22	46346479	46346479	Human	1	name
407573769	CV3498118	single nucleotide variant	NM_018006.5(TRMU):c.697C>T (p.Leu233Phe)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV004702106]\|Aminoglycoside-induced deafness [RCV005023644]\|not provided [RCV004702107]	likely pathogenic	22	46352166	46352166	Human	2	name
408384977	CV3506660	single nucleotide variant	NM_018006.5(TRMU):c.980T>C (p.Met327Thr)	TRMU-related disorder [RCV004732280]	uncertain significance	22	46355550	46355550	Human		name , trait , alternate_id
408365996	CV3512831	single nucleotide variant	NM_018006.5(TRMU):c.571C>T (p.Pro191Ser)	Inborn genetic diseases [RCV004968619]\|TRMU-related disorder [RCV004755450]	uncertain significance	22	46350383	46350383	Human	2	name , trait , alternate_id
408366126	CV3515029	single nucleotide variant	NM_018006.5(TRMU):c.656T>C (p.Met219Thr)	TRMU-related disorder [RCV004755560]	uncertain significance	22	46352125	46352125	Human		name , trait , alternate_id
11631723	CV351781	single nucleotide variant	NM_018006.5(TRMU):c.941C>G (p.Ala314Gly)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000386901]	uncertain significance	22	46355511	46355511	Human	1	name
408381726	CV3523958	single nucleotide variant	NM_018006.5(TRMU):c.448C>A (p.Leu150Ile)	not provided [RCV004766356]	uncertain significance	22	46346514	46346514	Human		name
408393239	CV3525553	single nucleotide variant	NM_018006.5(TRMU):c.383A>G (p.Tyr128Cys)	not specified [RCV004771437]	uncertain significance	22	46346449	46346449	Human		name
596926893	CV3539902	single nucleotide variant	NM_018006.5(TRMU):c.823G>C (p.Glu275Gln)	not provided [RCV004790893]	uncertain significance	22	46353817	46353817	Human		name
597625387	CV3621836	single nucleotide variant	NM_018006.5(TRMU):c.577G>C (p.Gly193Arg)	Inborn genetic diseases [RCV004964532]	uncertain significance	22	46350389	46350389	Human	1	name
597625389	CV3621837	single nucleotide variant	NM_018006.5(TRMU):c.745G>A (p.Asp249Asn)	Inborn genetic diseases [RCV004964533]	uncertain significance	22	46352303	46352303	Human	1	name
597625390	CV3621838	single nucleotide variant	NM_018006.5(TRMU):c.767A>G (p.His256Arg)	Inborn genetic diseases [RCV004964534]	uncertain significance	22	46352325	46352325	Human	1	name
597680333	CV3727274	single nucleotide variant	NM_018006.5(TRMU):c.521C>T (p.Thr174Ile)	Aminoglycoside-induced deafness [RCV005030918]	likely pathogenic	22	46350333	46350333	Human	1	name
12843004	CV379865	single nucleotide variant	NM_018006.5(TRMU):c.567C>G (p.Ile189Met)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001835795]\|not provided [RCV000891993]\|not specified [RCV000435446]	benign\|likely benign	22	46350379	46350379	Human	1	name
597831650	CV3830831	single nucleotide variant	NM_018006.5(TRMU):c.535C>T (p.Gln179Ter)	not provided [RCV005170229]	pathogenic	22	46350347	46350347	Human		name
598174840	CV3890933	single nucleotide variant	NM_018006.5(TRMU):c.718C>G (p.Arg240Gly)	not provided [RCV005251786]	uncertain significance	22	46352276	46352276	Human		name
598174859	CV3890935	single nucleotide variant	NM_018006.5(TRMU):c.398T>C (p.Leu133Pro)	not provided [RCV005251788]	uncertain significance	22	46346464	46346464	Human		name
598236517	CV3932018	single nucleotide variant	NM_018006.5(TRMU):c.982G>A (p.Glu328Lys)	Inborn genetic diseases [RCV005296040]	uncertain significance	22	46355552	46355552	Human	1	name
598214827	CV3932019	single nucleotide variant	NM_018006.5(TRMU):c.860G>A (p.Gly287Asp)	Inborn genetic diseases [RCV005292601]	uncertain significance	22	46353854	46353854	Human	1	name
8602333	CV39776	single nucleotide variant	NM_018006.5(TRMU):c.835G>A (p.Val279Met)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000023804]\|Aminoglycoside-induced deafness [RCV002496439]\|Aminoglycoside-induced deafness [RCV003473122]\|Inborn genetic diseases [RCV000623265]\|not provided [RCV000442392]	pathogenic\|likely pathogenic	22	46353829	46353829	Human	3	name
12894431	CV411028	single nucleotide variant	NM_018006.5(TRMU):c.304A>G (p.Asn102Asp)	not provided [RCV000482789]	likely pathogenic	22	46343317	46343317	Human		name
13442746	CV434687	single nucleotide variant	NM_018006.5(TRMU):c.880C>T (p.Arg294Trp)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000509329]\|Inborn genetic diseases [RCV003278857]	uncertain significance\|not provided	22	46355450	46355450	Human	2	name
13522328	CV489212	single nucleotide variant	NM_018006.5(TRMU):c.527T>G (p.Phe176Cys)	not provided [RCV000591600]	uncertain significance	22	46350339	46350339	Human		name
13530298	CV512540	single nucleotide variant	NM_018006.5(TRMU):c.671T>G (p.Ile224Ser)	Inborn genetic diseases [RCV000622398]	likely pathogenic	22	46352140	46352140	Human	1	name
13794748	CV552233	single nucleotide variant	NM_018006.5(TRMU):c.497C>A (p.Ala166Glu)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000680132]	uncertain significance	22	46350309	46350309	Human	1	name
13833431	CV584665	single nucleotide variant	NM_018006.5(TRMU):c.952C>T (p.Pro318Ser)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001830600]\|Inborn genetic diseases [RCV002535085]\|not provided [RCV000728694]	uncertain significance	22	46355522	46355522	Human	2	name
13834735	CV585984	single nucleotide variant	NM_018006.5(TRMU):c.740T>C (p.Ile247Thr)	not provided [RCV000730325]	uncertain significance	22	46352298	46352298	Human		name
13834827	CV586077	single nucleotide variant	NM_018006.5(TRMU):c.995G>A (p.Arg332Gln)	not provided [RCV000730439]	uncertain significance	22	46355565	46355565	Human		name
13835833	CV587096	single nucleotide variant	NM_018006.5(TRMU):c.918G>C (p.Arg306Ser)	Inborn genetic diseases [RCV004027018]\|TRMU-related disorder [RCV004754546]\|not provided [RCV000731737]	uncertain significance	22	46355488	46355488	Human	2	name , trait , alternate_id
13836584	CV587860	single nucleotide variant	NM_018006.5(TRMU):c.928G>A (p.Val310Met)	Inborn genetic diseases [RCV003243284]\|not provided [RCV000732746]	uncertain significance	22	46355498	46355498	Human	1	name
13837024	CV588308	single nucleotide variant	NM_018006.5(TRMU):c.422A>G (p.Gln141Arg)	not provided [RCV000733305]	uncertain significance	22	46346488	46346488	Human		name
13837533	CV588823	single nucleotide variant	NM_018006.5(TRMU):c.802G>A (p.Ala268Thr)	Inborn genetic diseases [RCV002536508]\|not provided [RCV000733984]	uncertain significance	22	46353796	46353796	Human	1	name
13837703	CV588993	single nucleotide variant	NM_018006.5(TRMU):c.655A>G (p.Met219Val)	not provided [RCV000734192]	uncertain significance	22	46352124	46352124	Human		name
13837721	CV589011	single nucleotide variant	NM_018006.5(TRMU):c.549T>G (p.Asp183Glu)	not provided [RCV000734214]	uncertain significance	22	46350361	46350361	Human		name
14393964	CV610174	single nucleotide variant	NM_018006.5(TRMU):c.814G>A (p.Gly272Ser)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001830652]\|not provided [RCV000756815]	uncertain significance	22	46353808	46353808	Human	1	name
14693242	CV620695	deletion	NM_018006.5(TRMU):c.96_97del (p.Phe35fs)	Aminoglycoside-induced deafness [RCV003472308]\|Aminoglycoside-induced deafness [RCV005029430]\|not provided [RCV001070618]	pathogenic\|likely pathogenic\|uncertain significance\|no classifications from unflagged records	22	46337792	46337793	Human	1	name
15129436	CV773591	single nucleotide variant	NM_018006.5(TRMU):c.910C>G (p.Leu304Val)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001147598]\|TRMU-related disorder [RCV003942962]\|not provided [RCV000941882]	benign\|likely benign	22	46355480	46355480	Human	1	name , trait , alternate_id
21075080	CV798773	single nucleotide variant	NM_018006.5(TRMU):c.653G>T (p.Ser218Ile)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000995908]	likely pathogenic	22	46352122	46352122	Human	1	name
28873309	CV891431	single nucleotide variant	NM_018006.5(TRMU):c.902A>G (p.Tyr301Cys)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001146695]\|Aminoglycoside-induced deafness [RCV002480540]\|not provided [RCV002557141]	uncertain significance	22	46355472	46355472	Human	2	name
28889633	CV903647	single nucleotide variant	NM_018006.5(TRMU):c.844A>G (p.Lys282Glu)	not specified [RCV001169907]	uncertain significance	22	46353838	46353838	Human		name
38471100	CV939330	single nucleotide variant	NM_018006.5(TRMU):c.994C>T (p.Arg332Ter)	Aminoglycoside-induced deafness [RCV003473761]\|not provided [RCV001213660]	pathogenic\|likely pathogenic	22	46355564	46355564	Human	1	name
38465262	CV961793	single nucleotide variant	NM_018006.5(TRMU):c.680G>C (p.Arg227Thr)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001250083]\|Aminoglycoside-induced deafness [RCV003473836]\|Aminoglycoside-induced deafness [RCV005029841]\|not provided [RCV001879773]\|not specified [RCV002298915]	pathogenic\|likely pathogenic\|uncertain significance	22	46352149	46352149	Human	2	name
40905612	CV980059	single nucleotide variant	NM_018006.5(TRMU):c.408A>T (p.Glu136Asp)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001278847]	uncertain significance	22	46346474	46346474	Human	1	name
40905613	CV980060	single nucleotide variant	NM_018006.5(TRMU):c.624A>T (p.Arg208Ser)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001278848]	uncertain significance	22	46350436	46350436	Human	1	name
150553558	CV1303566	single nucleotide variant	NM_018006.5(TRMU):c.1081C>T (p.Arg361Cys)	TRMU-related disorder [RCV004754788]\|not provided [RCV001769256]	uncertain significance	22	46356052	46356052	Human	1	name , trait , alternate_id
8691459	CV141419	single nucleotide variant	NM_018006.5(TRMU):c.1192C>T (p.Arg398Cys)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000285765]\|not provided [RCV000755413]\|not specified [RCV000125606]	benign\|likely benign	22	46356932	46356932	Human	1	name
151770541	CV1464965	single nucleotide variant	NM_018006.5(TRMU):c.1141G>A (p.Gly381Arg)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV004763285]\|not provided [RCV002025316]	uncertain significance	22	46356881	46356881	Human	1	name
156112622	CV1871079	single nucleotide variant	NM_018006.5(TRMU):c.1001G>A (p.Arg334His)	not provided [RCV003081111]	uncertain significance	22	46355571	46355571	Human		name
156268396	CV1875624	single nucleotide variant	NM_018006.5(TRMU):c.1232C>T (p.Pro411Leu)	Inborn genetic diseases [RCV005288891]\|TRMU-related disorder [RCV003418727]\|not provided [RCV003060623]	uncertain significance	22	46356972	46356972	Human	2	name , trait , alternate_id
10049878	CV191073	single nucleotide variant	NM_018006.5(TRMU):c.1135G>T (p.Gly379Cys)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000680154]\|Inborn genetic diseases [RCV000624682]\|TRMU-related disorder [RCV004754332]\|not provided [RCV000174140]\|not specified [RCV003488423]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	22	46356875	46356875	Human	2	name , trait , alternate_id
156437228	CV1937058	single nucleotide variant	NM_018006.5(TRMU):c.1153C>T (p.Arg385Trp)	Inborn genetic diseases [RCV003377920]\|not provided [RCV003106759]	uncertain significance	22	46356893	46356893	Human	1	name
10398636	CV204174	single nucleotide variant	NM_018006.5(TRMU):c.1007A>C (p.Gln336Pro)	Long QT syndrome [RCV000190206]	likely benign	22	46355577	46355577	Human	2	name
10411134	CV211956	single nucleotide variant	NM_018006.5(TRMU):c.1093A>C (p.Thr365Pro)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001150925]\|not specified [RCV000199623]	likely benign\|uncertain significance	22	46356064	46356064	Human	1	name
10411592	CV211957	single nucleotide variant	NM_018006.5(TRMU):c.1106C>T (p.Ala369Val)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001833156]\|Inborn genetic diseases [RCV003165458]\|not provided [RCV000200577]	conflicting interpretations of pathogenicity\|uncertain significance	22	46356846	46356846	Human	2	name
10409733	CV211958	single nucleotide variant	NM_018006.5(TRMU):c.1125C>A (p.Asp375Glu)	not specified [RCV000196726]	likely benign	22	46356865	46356865	Human		name
10410656	CV211959	single nucleotide variant	NM_018006.5(TRMU):c.1246G>T (p.Gly416Cys)	Inborn genetic diseases [RCV003298261]\|not provided [RCV002517266]\|not specified [RCV000198613]	likely benign\|uncertain significance	22	46356986	46356986	Human	1	name
156079788	CV2341282	single nucleotide variant	NM_018006.5(TRMU):c.1126G>A (p.Glu376Lys)	Inborn genetic diseases [RCV002951729]	uncertain significance	22	46356866	46356866	Human	1	name
329847041	CV2524123	single nucleotide variant	NM_018006.5(TRMU):c.1099C>T (p.Gln367Ter)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV003226829]	likely pathogenic	22	46356070	46356070	Human	1	name
401729149	CV2673169	single nucleotide variant	NM_018006.5(TRMU):c.1082G>A (p.Arg361His)	Inborn genetic diseases [RCV003247711]\|TRMU-related disorder [RCV003434732]	likely benign\|uncertain significance	22	46356053	46356053	Human	2	name , trait , alternate_id
401772233	CV2719578	single nucleotide variant	NM_018006.5(TRMU):c.1175C>T (p.Thr392Met)	Inborn genetic diseases [RCV003304608]	uncertain significance	22	46356915	46356915	Human	1	name
401888173	CV2791326	single nucleotide variant	NM_018006.5(TRMU):c.1087C>T (p.Leu363Phe)	Inborn genetic diseases [RCV003367558]	uncertain significance	22	46356058	46356058	Human	1	name
401906096	CV2804851	single nucleotide variant	NM_018006.5(TRMU):c.1054G>T (p.Val352Leu)	TRMU-related disorder [RCV003420961]	uncertain significance	22	46356025	46356025	Human		name , trait , alternate_id
405196916	CV3168203	single nucleotide variant	NM_018006.5(TRMU):c.1084G>A (p.Ala362Thr)	not provided [RCV003860335]	likely pathogenic	22	46356055	46356055	Human		name
405292857	CV3210396	single nucleotide variant	NM_018006.5(TRMU):c.1040A>C (p.Asn347Thr)	TRMU-related disorder [RCV003931369]	uncertain significance	22	46356011	46356011	Human		name , trait , alternate_id
407461689	CV3488715	single nucleotide variant	NM_018006.5(TRMU):c.1093A>G (p.Thr365Ala)	Inborn genetic diseases [RCV004687716]	uncertain significance	22	46356064	46356064	Human	1	name
408386927	CV3518614	single nucleotide variant	NM_018006.5(TRMU):c.1223G>T (p.Ser408Ile)	not provided [RCV004760932]	uncertain significance	22	46356963	46356963	Human		name
597625385	CV3621835	single nucleotide variant	NM_018006.5(TRMU):c.1177C>A (p.Leu393Ile)	Inborn genetic diseases [RCV004964531]	uncertain significance	22	46356917	46356917	Human	1	name
597907577	CV3738787	single nucleotide variant	NM_018006.5(TRMU):c.1130G>A (p.Cys377Tyr)	not provided [RCV005073022]	uncertain significance	22	46356870	46356870	Human		name
12833177	CV377577	single nucleotide variant	NM_018006.5(TRMU):c.1193G>A (p.Arg398His)	not provided [RCV005090765]\|not specified [RCV000418028]	likely benign\|uncertain significance	22	46356933	46356933	Human		name
597935720	CV3858888	single nucleotide variant	NM_018006.5(TRMU):c.1078G>C (p.Val360Leu)	not provided [RCV005207609]	uncertain significance	22	46356049	46356049	Human		name
598124382	CV3885184	single nucleotide variant	NM_018006.5(TRMU):c.1028T>C (p.Val343Ala)	not specified [RCV005239761]	uncertain significance	22	46355999	46355999	Human		name
616939416	CV4013906	single nucleotide variant	NM_018006.5(TRMU):c.1108G>A (p.Val370Met)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV005413398]	likely pathogenic	22	46356848	46356848	Human	1	name
616939253	CV4015583	single nucleotide variant	NM_018006.5(TRMU):c.1219C>T (p.Pro407Ser)	not provided [RCV005413095]	uncertain significance	22	46356959	46356959	Human		name
13523631	CV490267	single nucleotide variant	NM_018006.5(TRMU):c.1131C>G (p.Cys377Trp)	Inborn genetic diseases [RCV002532432]\|not provided [RCV000593247]	uncertain significance	22	46356871	46356871	Human	1	name
13523671	CV493141	single nucleotide variant	NM_018006.5(TRMU):c.1123G>A (p.Asp375Asn)	not provided [RCV000593301]	uncertain significance	22	46356863	46356863	Human		name
13836670	CV587948	single nucleotide variant	NM_018006.5(TRMU):c.1154G>A (p.Arg385Gln)	not provided [RCV000732859]\|not specified [RCV001169908]	uncertain significance	22	46356894	46356894	Human		name
13838299	CV589600	single nucleotide variant	NM_018006.5(TRMU):c.1214A>C (p.Glu405Ala)	not provided [RCV000734956]	uncertain significance	22	46356954	46356954	Human		name
28875318	CV891432	single nucleotide variant	NM_018006.5(TRMU):c.1000C>T (p.Arg334Cys)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001147601]\|Aminoglycoside-induced deafness [RCV005394766]	uncertain significance	22	46355570	46355570	Human	2	name
28885645	CV891433	single nucleotide variant	NM_018006.5(TRMU):c.1142G>A (p.Gly381Glu)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001150926]\|Aminoglycoside-induced deafness [RCV003473718]\|not provided [RCV002557253]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	22	46356882	46356882	Human	2	name
28885648	CV891434	single nucleotide variant	NM_018006.5(TRMU):c.1163C>T (p.Pro388Leu)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001150927]	uncertain significance	22	46356903	46356903	Human	1	name
40905614	CV980061	single nucleotide variant	NM_018006.5(TRMU):c.1211C>A (p.Thr404Asn)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001278849]	likely benign	22	46356951	46356951	Human	1	name
40905615	CV980062	single nucleotide variant	NM_018006.5(TRMU):c.1211C>T (p.Thr404Ile)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001278850]	likely benign	22	46356951	46356951	Human	1	name
151833163	CV1388308	duplication	NM_018006.5(TRMU):c.172_173dup (p.Arg59fs)	Aminoglycoside-induced deafness [RCV005025479]\|not provided [RCV001955878]	pathogenic\|likely pathogenic	22	46337867	46337868	Human	1	name
156316149	CV2071034	deletion	NM_018006.5(TRMU):c.260_263del (p.Asn87fs)	Aminoglycoside-induced deafness [RCV003475436]\|not provided [RCV002834412]	pathogenic\|likely pathogenic	22	46343270	46343273	Human	1	name
401949340	CV2836860	microsatellite	NM_018006.5(TRMU):c.177_178del (p.Arg59fs)	Aminoglycoside-induced deafness [RCV003474175]	likely pathogenic	22	46337871	46337872	Human		name
127271018	CV1065054	deletion	NM_018006.5(TRMU):c.880_898del (p.Arg294fs)	Aminoglycoside-induced deafness [RCV005023151]\|not provided [RCV001390019]	pathogenic\|likely pathogenic	22	46355447	46355465	Human	1	name
151869954	CV1412292	duplication	NM_018006.5(TRMU):c.428_459dup (p.Arg154fs)	Aminoglycoside-induced deafness [RCV003475147]\|not provided [RCV001885012]	pathogenic\|likely pathogenic	22	46346493	46346494	Human	1	name
156190239	CV2016966	duplication	NM_018006.5(TRMU):c.914_941dup (p.Glu316fs)	not provided [RCV002711062]	pathogenic	22	46355480	46355481	Human		name
155910629	CV2069391	deletion	NM_018006.5(TRMU):c.809_810del (p.Ile270fs)	not provided [RCV002837685]	pathogenic	22	46353802	46353803	Human		name
156066987	CV2176119	duplication	NM_018006.5(TRMU):c.954_957dup (p.Ala320fs)	not provided [RCV003053597]	pathogenic	22	46355523	46355524	Human		name
156270242	CV2178948	duplication	NM_018006.5(TRMU):c.541_542dup (p.Gln182fs)	not provided [RCV003044427]	pathogenic	22	46350352	46350353	Human		name
401949334	CV2836854	microsatellite	NM_018006.5(TRMU):c.867_868del (p.Phe290fs)	Aminoglycoside-induced deafness [RCV003474169]	likely pathogenic	22	46353859	46353860	Human		name
401949344	CV2836864	microsatellite	NM_018006.5(TRMU):c.824_825del (p.Glu275fs)	Aminoglycoside-induced deafness [RCV003474179]	likely pathogenic	22	46353813	46353814	Human		name
401949348	CV2836868	microsatellite	NM_018006.5(TRMU):c.872_873del (p.Val291fs)	Aminoglycoside-induced deafness [RCV003474183]	likely pathogenic	22	46353864	46353865	Human		name
405191609	CV2928041	microsatellite	NM_018006.5(TRMU):c.574_575dup (p.Gly193fs)	not provided [RCV003564904]	pathogenic	22	46350383	46350384	Human		name
405232553	CV2985199	deletion	NM_018006.5(TRMU):c.906_907del (p.Asp303fs)	not provided [RCV003711695]	pathogenic	22	46355475	46355476	Human		name
405005394	CV3009968	deletion	NM_018006.5(TRMU):c.335_336del (p.His112fs)	not provided [RCV003693533]	pathogenic	22	46343348	46343349	Human		name
405007119	CV3010290	duplication	NM_018006.5(TRMU):c.692_705dup (p.Tyr236fs)	Aminoglycoside-induced deafness [RCV004573176]\|not provided [RCV003693673]	pathogenic\|likely pathogenic	22	46352160	46352161	Human	1	name
405869951	CV3399625	deletion	NM_018006.5(TRMU):c.645_649del (p.Lys216fs)	Aminoglycoside-induced deafness [RCV004573770]	likely pathogenic	22	46350457	46350461	Human	1	name
597924472	CV3772566	deletion	NM_018006.5(TRMU):c.926_950del (p.Arg309fs)	not provided [RCV005115716]	pathogenic	22	46355492	46355516	Human		name
12894414	CV411029	microsatellite	NM_018006.5(TRMU):c.522CTT[1] (p.Phe176del)	Aminoglycoside-induced deafness [RCV003476171]\|not provided [RCV000482741]\|not specified [RCV003235241]	likely pathogenic\|uncertain significance	22	46350334	46350336	Human		name
38471266	CV959105	microsatellite	NM_018006.5(TRMU):c.824_825dup (p.Pro276fs)	Aminoglycoside-induced deafness [RCV003473829]\|not provided [RCV001245797]	pathogenic\|likely pathogenic	22	46353812	46353813	Human		name
401949356	CV2836876	insertion	NM_018006.5(TRMU):c.737_738insT (p.Ile247fs)	Aminoglycoside-induced deafness [RCV003474191]	likely pathogenic	22	46352295	46352296	Human	1	name
13789424	CV550099	indel	NM_018006.5(TRMU):c.9_10delinsGG (p.Leu4Val)	not provided [RCV000676756]	benign	22	46335773	46335774	Human		name
152999360	CV1680023	duplication	NM_018006.5(TRMU):c.1258_1259dup (p.Leu420fs)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV002251704]	likely pathogenic	22	46356997	46356998	Human	1	name
156348558	CV1868612	microsatellite	NM_018006.5(TRMU):c.1041_1044del (p.Asn347fs)	not provided [RCV003064662]	pathogenic	22	46356008	46356011	Human		name
155999483	CV2045461	microsatellite	NM_018006.5(TRMU):c.1041_1044dup (p.Asp349fs)	Aminoglycoside-induced deafness [RCV004571243]\|not provided [RCV002756129]	pathogenic\|likely pathogenic	22	46356007	46356008	Human		name
401949350	CV2836870	microsatellite	NM_018006.5(TRMU):c.1028_1029del (p.Val343fs)	Aminoglycoside-induced deafness [RCV003474185]	likely pathogenic	22	46355995	46355996	Human		name
402521311	CV3000279	microsatellite	NM_018006.5(TRMU):c.648_649AG[1] (p.Ser218fs)	not provided [RCV003716356]	pathogenic	22	46350460	46350461	Human		name
26901100	CV849392	deletion	NM_018006.5(TRMU):c.69del (p.Leu23_Leu24insTer)	not provided [RCV001068279]	pathogenic	22	46335833	46335833	Human		name
38471305	CV959104	indel	NM_018006.5(TRMU):c.481_483delinsAT (p.Val161fs)	not provided [RCV001248046]	pathogenic	22	46350293	46350295	Human		name
13791680	CV549079	duplication	NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000667762]\|Aminoglycoside-induced deafness [RCV003472090]\|Aminoglycoside-induced deafness [RCV005027792]\|not provided [RCV000734954]\|not specified [RCV003117469]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	22	46356036	46356037	Human	2	name
401949327	CV2836847	deletion	NM_018006.5(TRMU):c.416_417del (p.Val138_Phe139insTer)	Aminoglycoside-induced deafness [RCV003474162]	likely pathogenic	22	46346481	46346482	Human	1	name
405869946	CV3399621	deletion	NM_018006.5(TRMU):c.679_686del (p.Lys226_Arg227insTer)	Aminoglycoside-induced deafness [RCV004573766]	likely pathogenic	22	46352148	46352155	Human	1	name
155912390	CV2021741	microsatellite	NM_018006.5(TRMU):c.162_163del (p.Cys54_Glu55delinsTer)	not provided [RCV002726900]	pathogenic	22	46337856	46337857	Human		name
127259070	CV1065050	duplication	NM_018006.5(TRMU):c.290_327dup (p.Phe110delinsLeuThrTer)	not provided [RCV001387074]	pathogenic	22	46343301	46343302	Human		name
597929585	CV3862224	duplication	NM_018006.5(TRMU):c.37_48dup (p.Asp16_Ser17insGlyGlyValAsp)	not provided [RCV005206465]	uncertain significance	22	46335799	46335800	Human		name

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