Qrsl1 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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151 records found for search term Qrsl1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150481624	CV1258951	single nucleotide variant	NM_018292.5(QRSL1):c.-7G>A	not provided [RCV001686081]	benign	6	106629675	106629675	Human		name
150494389	CV1224891	single nucleotide variant	NM_018292.5(QRSL1):c.*86C>T	not provided [RCV001619369]	benign	6	106666088	106666088	Human		name
150472457	CV1259298	single nucleotide variant	NM_018292.5(QRSL1):c.*90T>A	not provided [RCV001684544]	benign	6	106666092	106666092	Human		name
150450813	CV1272427	single nucleotide variant	NM_018292.5(QRSL1):c.*76C>G	not provided [RCV001691908]	benign	6	106666078	106666078	Human		name
150445246	CV1278120	single nucleotide variant	NM_018292.5(QRSL1):c.-55G>A	not provided [RCV001707263]	benign	6	106629627	106629627	Human	3	name
150445246	CV1278120	single nucleotide variant	NM_018292.5(QRSL1):c.-55G>A	not provided [RCV001707263]	benign	6	106629627	106629628	Human	3	name
150529348	CV1288905	single nucleotide variant	NM_018292.5(QRSL1):c.850-5A>G	not provided [RCV001727373]	conflicting interpretations of pathogenicity\|uncertain significance	6	106654725	106654725	Human		name
151711249	CV1433358	single nucleotide variant	NM_018292.5(QRSL1):c.24+20T>A	not provided [RCV002001722]	likely benign\|uncertain significance	6	106629725	106629725	Human		name
152056127	CV1564016	single nucleotide variant	NM_018292.5(QRSL1):c.24+17C>T	not provided [RCV002174243]	benign	6	106629722	106629722	Human		name
152120939	CV1662106	single nucleotide variant	NM_018292.5(QRSL1):c.381-8G>A	not provided [RCV002117844]	benign	6	106649017	106649017	Human		name
156065131	CV1888749	single nucleotide variant	NM_018292.5(QRSL1):c.283+3A>G	not provided [RCV003079355]	uncertain significance	6	106640924	106640924	Human		name
156164594	CV2019639	single nucleotide variant	NM_018292.5(QRSL1):c.381-9C>T	not provided [RCV002710296]	likely benign	6	106649016	106649016	Human		name
405144720	CV3056203	duplication	NM_018292.5(QRSL1):c.733+7dup	not provided [RCV003725884]	likely benign	6	106652390	106652391	Human		name
597877254	CV3744236	single nucleotide variant	NM_018292.5(QRSL1):c.185-9T>G	not provided [RCV005069450]	likely benign	6	106640814	106640814	Human		name
597949624	CV3759301	single nucleotide variant	NM_018292.5(QRSL1):c.557+1G>A	not provided [RCV005079098]	likely pathogenic	6	106649202	106649202	Human		name
26913228	CV853058	single nucleotide variant	NM_018292.5(QRSL1):c.850-3A>G	Combined oxidative phosphorylation deficiency 40 [RCV001035458]\|not provided [RCV002552090]	pathogenic	6	106654727	106654727	Human	1	name
150477877	CV1218693	single nucleotide variant	NM_018292.5(QRSL1):c.381-47A>C	Combined oxidative phosphorylation deficiency 40 [RCV001796610]\|not provided [RCV001616320]	benign	6	106648978	106648978	Human	1	name
150487491	CV1237342	single nucleotide variant	NM_018292.5(QRSL1):c.849+26C>T	not provided [RCV001654191]	benign	6	106652608	106652608	Human		name
156354737	CV1974973	single nucleotide variant	NM_018292.5(QRSL1):c.381-16T>A	not provided [RCV002602080]	likely benign	6	106649009	106649009	Human		name
401920827	CV2820599	single nucleotide variant	NM_018292.5(QRSL1):c.849+72A>C	not provided [RCV003431979]	likely benign	6	106652654	106652654	Human		name
401920828	CV2820600	single nucleotide variant	NM_018292.5(QRSL1):c.1160+8A>G	not provided [RCV003431980]	uncertain significance	6	106655740	106655740	Human		name
405112280	CV3137296	single nucleotide variant	NM_018292.5(QRSL1):c.284-11A>T	not provided [RCV003836259]	likely benign	6	106642983	106642983	Human		name
597877907	CV3825855	single nucleotide variant	NM_018292.5(QRSL1):c.380+11T>C	not provided [RCV005177729]	likely benign	6	106643101	106643101	Human		name
150340022	CV1168061	single nucleotide variant	NM_018292.5(QRSL1):c.1366+24T>G	not provided [RCV001534876]	benign	6	106663209	106663209	Human		name
150512397	CV1228486	deletion	NM_018292.5(QRSL1):c.283+132del	not provided [RCV001637618]	benign	6	106641053	106641053	Human		name
150454577	CV1232299	deletion	NM_018292.5(QRSL1):c.1043-82del	not provided [RCV001648312]	benign	6	106655515	106655515	Human		name
150476055	CV1251806	single nucleotide variant	NM_018292.5(QRSL1):c.1367-39G>A	not provided [RCV001672004]	benign	6	106665743	106665743	Human		name
150439548	CV1264983	single nucleotide variant	NM_018292.5(QRSL1):c.185-113T>A	not provided [RCV001678976]	benign	6	106640710	106640710	Human		name
150439471	CV1266776	duplication	NM_018292.5(QRSL1):c.1043-82dup	not provided [RCV001690211]	benign	6	106655514	106655515	Human		name
150463490	CV1276232	single nucleotide variant	NM_018292.5(QRSL1):c.1043-11C>T	not provided [RCV001710177]	benign	6	106655604	106655604	Human		name
152034391	CV1666003	single nucleotide variant	NM_018292.5(QRSL1):c.1160+14T>G	not provided [RCV002106737]	benign	6	106655746	106655746	Human		name
150502831	CV1212331	single nucleotide variant	NM_018292.5(QRSL1):c.1367-254T>G	not provided [RCV001595205]	benign	6	106665528	106665528	Human		name
150493943	CV1238769	single nucleotide variant	NM_018292.5(QRSL1):c.1367-148A>G	not provided [RCV001655313]	benign	6	106665634	106665634	Human		name
155908785	CV2077671	single nucleotide variant	NM_018292.5(QRSL1):c.10C>A (p.Arg4=)	not provided [RCV002858327]	likely benign	6	106629691	106629691	Human		name
405117577	CV3115912	single nucleotide variant	NM_018292.5(QRSL1):c.21A>C (p.Arg7=)	not provided [RCV003814402]	likely benign	6	106629702	106629702	Human		name
151235278	CV1318547	deletion	NM_018292.5(QRSL1):c.557+49_557+50del	Combined oxidative phosphorylation deficiency 40 [RCV001794869]	benign	6	106649249	106649250	Human	1	name
156039170	CV2049636	single nucleotide variant	NM_018292.5(QRSL1):c.75A>G (p.Gln25=)	not provided [RCV002796369]	likely benign	6	106640399	106640399	Human		name
405087182	CV3047711	single nucleotide variant	NM_018292.5(QRSL1):c.33G>A (p.Ala11=)	not provided [RCV003717443]	likely benign	6	106640357	106640357	Human		name
597843768	CV3756763	deletion	NM_018292.5(QRSL1):c.24del (p.Val9fs)	not provided [RCV005077144]	pathogenic	6	106629704	106629704	Human		name
151830447	CV1419668	single nucleotide variant	NM_018292.5(QRSL1):c.16C>T (p.Leu6Phe)	Combined oxidative phosphorylation deficiency 40 [RCV002272541]\|Inborn genetic diseases [RCV003348690]\|not provided [RCV001983172]	uncertain significance	6	106629697	106629697	Human	2	name
156397325	CV1871061	single nucleotide variant	NM_018292.5(QRSL1):c.10C>T (p.Arg4Trp)	not provided [RCV003068773]	uncertain significance	6	106629691	106629691	Human		name
156368302	CV1925932	single nucleotide variant	NM_018292.5(QRSL1):c.22G>C (p.Glu8Gln)	Inborn genetic diseases [RCV004961130]\|not provided [RCV002633179]	uncertain significance	6	106629703	106629703	Human	1	name
155960422	CV1936499	single nucleotide variant	NM_018292.5(QRSL1):c.141G>A (p.Val47=)	not provided [RCV002512316]	likely benign	6	106640465	106640465	Human		name
405197095	CV3037735	single nucleotide variant	NM_018292.5(QRSL1):c.177T>C (p.Tyr59=)	not provided [RCV003706968]	likely benign	6	106640501	106640501	Human		name
598203449	CV3896482	deletion	NM_018292.5(QRSL1):c.45del (p.Gly16fs)	Combined oxidative phosphorylation deficiency 40 [RCV005356718]	likely pathogenic	6	106640368	106640368	Human	1	name
15108426	CV721622	single nucleotide variant	NM_018292.5(QRSL1):c.255G>A (p.Glu85=)	QRSL1-related disorder [RCV003910639]\|not provided [RCV000893668]	benign	6	106640893	106640893	Human	1	name , trait , alternate_id
150466387	CV1240400	deletion	NM_018292.5(QRSL1):c.557+201_557+205del	not provided [RCV001650161]	benign	6	106649399	106649403	Human		name
150501712	CV1256374	single nucleotide variant	NM_018292.5(QRSL1):c.32C>T (p.Ala11Val)	not provided [RCV001676998]	benign	6	106640356	106640356	Human		name
152120691	CV1662052	single nucleotide variant	NM_018292.5(QRSL1):c.540G>A (p.Ser180=)	QRSL1-related disorder [RCV003903408]\|not provided [RCV002117813]	benign	6	106649184	106649184	Human	1	name , trait , alternate_id
156352208	CV1923505	single nucleotide variant	NM_018292.5(QRSL1):c.756C>T (p.Pro252=)	not provided [RCV002650978]	likely benign	6	106652489	106652489	Human		name
156330074	CV1954028	single nucleotide variant	NM_018292.5(QRSL1):c.585G>A (p.Ser195=)	not provided [RCV002579947]	likely benign	6	106652236	106652236	Human		name
156221623	CV1995828	single nucleotide variant	NM_018292.5(QRSL1):c.363A>G (p.Leu121=)	not provided [RCV002667249]	likely benign	6	106643073	106643073	Human		name
156205474	CV2092699	single nucleotide variant	NM_018292.5(QRSL1):c.789T>C (p.Asn263=)	QRSL1-related disorder [RCV003916601]\|not provided [RCV002917948]	benign\|likely benign	6	106652522	106652522	Human	1	name , trait , alternate_id
156007353	CV2099821	single nucleotide variant	NM_018292.5(QRSL1):c.777T>C (p.His259=)	QRSL1-related disorder [RCV003926504]\|not provided [RCV002908918]	likely benign	6	106652510	106652510	Human	1	name , trait , alternate_id
155934022	CV2129371	single nucleotide variant	NM_018292.5(QRSL1):c.678G>A (p.Ser226=)	QRSL1-related disorder [RCV003943646]\|not provided [RCV002970804]	benign\|likely benign	6	106652329	106652329	Human	1	name , trait , alternate_id
156032998	CV2132731	single nucleotide variant	NM_018292.5(QRSL1):c.864G>A (p.Pro288=)	not provided [RCV002999220]	likely benign	6	106654744	106654744	Human		name
156295244	CV2162647	single nucleotide variant	NM_018292.5(QRSL1):c.798C>T (p.Phe266=)	not provided [RCV003045306]	likely benign	6	106652531	106652531	Human		name
156006460	CV2165178	single nucleotide variant	NM_018292.5(QRSL1):c.339T>C (p.Ala113=)	not provided [RCV003035019]	likely benign	6	106643049	106643049	Human		name
405209545	CV3037310	single nucleotide variant	NM_018292.5(QRSL1):c.555C>T (p.Tyr185=)	not provided [RCV003708388]	likely benign	6	106649199	106649199	Human		name
405168849	CV3078939	single nucleotide variant	NM_018292.5(QRSL1):c.988T>C (p.Leu330=)	not provided [RCV003727579]	likely benign	6	106654868	106654868	Human		name
405210559	CV3145901	single nucleotide variant	NM_018292.5(QRSL1):c.483A>G (p.Glu161=)	not provided [RCV003845631]	likely benign	6	106649127	106649127	Human		name
405668714	CV3308334	single nucleotide variant	NM_018292.5(QRSL1):c.46G>A (p.Gly16Ser)	Inborn genetic diseases [RCV004440806]	uncertain significance	6	106640370	106640370	Human	1	name
597847759	CV3736751	single nucleotide variant	NM_018292.5(QRSL1):c.813G>A (p.Leu271=)	not provided [RCV005065910]	likely benign	6	106652546	106652546	Human		name
597889858	CV3804894	single nucleotide variant	NM_018292.5(QRSL1):c.753C>T (p.Asp251=)	not provided [RCV005151156]	likely benign	6	106652486	106652486	Human		name
150495140	CV1241519	single nucleotide variant	NM_018292.5(QRSL1):c.1425G>A (p.Leu475=)	Combined oxidative phosphorylation deficiency 40 [RCV001796655]\|QRSL1-related disorder [RCV003975810]\|not provided [RCV001655526]	benign	6	106665840	106665840	Human	1	name , trait , alternate_id
152145107	CV1658273	single nucleotide variant	NM_018292.5(QRSL1):c.1467A>G (p.Thr489=)	not provided [RCV002219919]	likely benign	6	106665882	106665882	Human		name
156288022	CV1907558	single nucleotide variant	NM_018292.5(QRSL1):c.1221T>C (p.Phe407=)	not provided [RCV003087363]	likely benign	6	106663040	106663040	Human		name
156266950	CV1918983	single nucleotide variant	NM_018292.5(QRSL1):c.181A>G (p.Asn61Asp)	not provided [RCV002627962]	uncertain significance	6	106640505	106640505	Human		name
156419176	CV1926217	single nucleotide variant	NM_018292.5(QRSL1):c.1092C>T (p.Thr364=)	not provided [RCV002612395]	benign\|likely benign	6	106655664	106655664	Human		name
156119573	CV1952681	single nucleotide variant	NM_018292.5(QRSL1):c.224T>C (p.Val75Ala)	not provided [RCV002571808]	uncertain significance	6	106640862	106640862	Human		name
156316698	CV1974974	single nucleotide variant	NM_018292.5(QRSL1):c.1464T>C (p.Leu488=)	not provided [RCV002630103]	likely benign	6	106665879	106665879	Human		name
156289215	CV2013008	single nucleotide variant	NM_018292.5(QRSL1):c.1092C>A (p.Thr364=)	QRSL1-related disorder [RCV003963332]\|not provided [RCV002715584]	likely benign	6	106655664	106655664	Human	1	name , trait , alternate_id
156075235	CV2141687	single nucleotide variant	NM_018292.5(QRSL1):c.1011G>A (p.Ser337=)	not provided [RCV002979069]	uncertain significance	6	106654891	106654891	Human		name
156043275	CV2143572	single nucleotide variant	NM_018292.5(QRSL1):c.1443G>T (p.Ala481=)	not provided [RCV002999613]	likely benign	6	106665858	106665858	Human		name
156125776	CV2147520	single nucleotide variant	NM_018292.5(QRSL1):c.1542A>C (p.Ala514=)	not provided [RCV003021978]	likely benign	6	106665957	106665957	Human		name
155953335	CV2161457	single nucleotide variant	NM_018292.5(QRSL1):c.1062T>C (p.Asp354=)	not provided [RCV003032555]	likely benign	6	106655634	106655634	Human		name
156370118	CV2171037	single nucleotide variant	NM_018292.5(QRSL1):c.223G>A (p.Val75Ile)	not provided [RCV003032161]	uncertain significance	6	106640861	106640861	Human		name
405238143	CV2881323	single nucleotide variant	NM_018292.5(QRSL1):c.1212T>C (p.Ala404=)	not provided [RCV003556765]	benign	6	106663031	106663031	Human		name
405222624	CV2890955	single nucleotide variant	NM_018292.5(QRSL1):c.1515T>C (p.Leu505=)	QRSL1-related disorder [RCV003939087]\|not provided [RCV003554105]	likely benign	6	106665930	106665930	Human	1	name , trait , alternate_id
405168799	CV3078932	single nucleotide variant	NM_018292.5(QRSL1):c.1551A>G (p.Glu517=)	not provided [RCV003727576]	likely benign	6	106665966	106665966	Human		name
405703938	CV3224552	single nucleotide variant	NM_018292.5(QRSL1):c.173G>T (p.Arg58Ile)	Combined oxidative phosphorylation deficiency 40 [RCV003989940]	uncertain significance	6	106640497	106640497	Human	1	name
405697704	CV3226888	deletion	NM_018292.5(QRSL1):c.600del (p.Ala201fs)	not provided [RCV003993282]	likely pathogenic	6	106652251	106652251	Human		name
405668708	CV3308333	single nucleotide variant	NM_018292.5(QRSL1):c.284G>A (p.Gly95Asp)	Inborn genetic diseases [RCV004440805]	uncertain significance	6	106642994	106642994	Human	1	name
597707038	CV3592691	single nucleotide variant	NM_018292.5(QRSL1):c.193C>T (p.Leu65Phe)	Inborn genetic diseases [RCV004957463]	uncertain significance	6	106640831	106640831	Human	1	name
597872502	CV3805337	single nucleotide variant	NM_018292.5(QRSL1):c.1011G>C (p.Ser337=)	not provided [RCV005148615]	likely benign	6	106654891	106654891	Human		name
597957359	CV3838466	single nucleotide variant	NM_018292.5(QRSL1):c.1203C>G (p.Arg401=)	not provided [RCV005191841]	likely benign	6	106663022	106663022	Human		name
597938108	CV3862707	single nucleotide variant	NM_018292.5(QRSL1):c.1401A>C (p.Ser467=)	not provided [RCV005207979]	likely benign	6	106665816	106665816	Human		name
150337004	CV1171478	single nucleotide variant	NM_018292.5(QRSL1):c.788A>G (p.Asn263Ser)	QRSL1-related disorder [RCV003980673]\|not provided [RCV001541340]	benign	6	106652521	106652521	Human	1	name , trait , alternate_id
151835768	CV1451842	single nucleotide variant	NM_018292.5(QRSL1):c.745G>A (p.Gly249Arg)	not provided [RCV001994176]	uncertain significance	6	106652478	106652478	Human		name
151757641	CV1475160	single nucleotide variant	NM_018292.5(QRSL1):c.896C>T (p.Ser299Phe)	Inborn genetic diseases [RCV002562819]\|not provided [RCV001969830]	uncertain significance	6	106654776	106654776	Human	1	name
151859829	CV1486672	single nucleotide variant	NM_018292.5(QRSL1):c.830T>G (p.Leu277Arg)	not provided [RCV001883777]	uncertain significance	6	106652563	106652563	Human		name
152064096	CV1606648	single nucleotide variant	NM_018292.5(QRSL1):c.686T>G (p.Val229Gly)	not provided [RCV002209075]	likely benign	6	106652337	106652337	Human		name
156279374	CV1876977	single nucleotide variant	NM_018292.5(QRSL1):c.829C>G (p.Leu277Val)	not provided [RCV003061009]	uncertain significance	6	106652562	106652562	Human		name
156063045	CV1931149	single nucleotide variant	NM_018292.5(QRSL1):c.863C>T (p.Pro288Leu)	QRSL1-related disorder [RCV003953963]\|not provided [RCV002638350]	likely benign	6	106654743	106654743	Human	1	name , trait , alternate_id
156410511	CV1932397	single nucleotide variant	NM_018292.5(QRSL1):c.544T>C (p.Phe182Leu)	not provided [RCV002607890]	uncertain significance	6	106649188	106649188	Human		name
155974161	CV1974972	single nucleotide variant	NM_018292.5(QRSL1):c.355A>G (p.Thr119Ala)	not provided [RCV002617315]	uncertain significance	6	106643065	106643065	Human		name
156042644	CV1977901	single nucleotide variant	NM_018292.5(QRSL1):c.798C>A (p.Phe266Leu)	not provided [RCV002590385]	uncertain significance	6	106652531	106652531	Human		name
156210465	CV2000935	single nucleotide variant	NM_018292.5(QRSL1):c.994A>G (p.Thr332Ala)	not provided [RCV002666825]	uncertain significance	6	106654874	106654874	Human		name
156218918	CV2028801	single nucleotide variant	NM_018292.5(QRSL1):c.859G>A (p.Val287Ile)	not provided [RCV002712062]	uncertain significance	6	106654739	106654739	Human		name
156200061	CV2034680	single nucleotide variant	NM_018292.5(QRSL1):c.761A>T (p.Asp254Val)	not provided [RCV002766201]	uncertain significance	6	106652494	106652494	Human		name
156338112	CV2096095	single nucleotide variant	NM_018292.5(QRSL1):c.694A>G (p.Ile232Val)	QRSL1-related disorder [RCV003961172]\|not provided [RCV002900323]	benign\|likely benign	6	106652345	106652345	Human	1	name , trait , alternate_id
156299310	CV2119410	single nucleotide variant	NM_018292.5(QRSL1):c.649C>T (p.Arg217Cys)	not provided [RCV002962066]	uncertain significance	6	106652300	106652300	Human		name
156388313	CV2122200	single nucleotide variant	NM_018292.5(QRSL1):c.320A>C (p.Lys107Thr)	not provided [RCV002943662]	uncertain significance	6	106643030	106643030	Human		name
155911772	CV2141721	single nucleotide variant	NM_018292.5(QRSL1):c.475G>A (p.Glu159Lys)	not provided [RCV002968108]	uncertain significance	6	106649119	106649119	Human		name
156075899	CV2374993	single nucleotide variant	NM_018292.5(QRSL1):c.880G>C (p.Val294Leu)	Inborn genetic diseases [RCV002694235]	uncertain significance	6	106654760	106654760	Human	1	name
156004490	CV2400991	single nucleotide variant	NM_018292.5(QRSL1):c.934G>A (p.Val312Ile)	Inborn genetic diseases [RCV002779680]	uncertain significance	6	106654814	106654814	Human	1	name
243053186	CV2418122	single nucleotide variant	NM_018292.5(QRSL1):c.677C>T (p.Ser226Leu)	Combined oxidative phosphorylation deficiency 40 [RCV003153187]	uncertain significance	6	106652328	106652328	Human	1	name
401770082	CV2710876	single nucleotide variant	NM_018292.5(QRSL1):c.844C>G (p.Pro282Ala)	Inborn genetic diseases [RCV003260906]	uncertain significance	6	106652577	106652577	Human	1	name
407474086	CV3465003	single nucleotide variant	NM_018292.5(QRSL1):c.410C>T (p.Pro137Leu)	Inborn genetic diseases [RCV004662910]	uncertain significance	6	106649054	106649054	Human	1	name
407474089	CV3465004	single nucleotide variant	NM_018292.5(QRSL1):c.556G>A (p.Ala186Thr)	Inborn genetic diseases [RCV004662911]	uncertain significance	6	106649200	106649200	Human	1	name
597707027	CV3592689	single nucleotide variant	NM_018292.5(QRSL1):c.583T>C (p.Ser195Pro)	Inborn genetic diseases [RCV004957461]	uncertain significance	6	106652234	106652234	Human	1	name
598252814	CV3898359	single nucleotide variant	NM_018292.5(QRSL1):c.719C>G (p.Ala240Gly)	Inborn genetic diseases [RCV005259483]	uncertain significance	6	106652370	106652370	Human	1	name
598162949	CV3898362	single nucleotide variant	NM_018292.5(QRSL1):c.950T>A (p.Leu317His)	Inborn genetic diseases [RCV005261467]	uncertain significance	6	106654830	106654830	Human	1	name
598162952	CV3898363	single nucleotide variant	NM_018292.5(QRSL1):c.344T>C (p.Leu115Pro)	Inborn genetic diseases [RCV005261468]	uncertain significance	6	106643054	106643054	Human	1	name
598162956	CV3898364	single nucleotide variant	NM_018292.5(QRSL1):c.944T>G (p.Val315Gly)	Inborn genetic diseases [RCV005261469]	uncertain significance	6	106654824	106654824	Human	1	name
13803368	CV550143	single nucleotide variant	NM_018292.5(QRSL1):c.398G>T (p.Gly133Val)	Cardiomyopathy, mitochondrial [RCV000684831]\|Combined oxidative phosphorylation deficiency 40 [RCV001035464]	pathogenic\|likely pathogenic	6	106649042	106649042	Human	2	name
13803367	CV550144	single nucleotide variant	NM_018292.5(QRSL1):c.555C>A (p.Tyr185Ter)	Cardiomyopathy, mitochondrial [RCV000684830]\|Combined oxidative phosphorylation deficiency 40 [RCV001035459]	pathogenic	6	106649199	106649199	Human	2	name
26913227	CV853057	single nucleotide variant	NM_018292.5(QRSL1):c.350G>A (p.Gly117Glu)	Combined oxidative phosphorylation deficiency 40 [RCV001035457]	pathogenic	6	106643060	106643060	Human	1	name
150529349	CV1288906	single nucleotide variant	NM_018292.5(QRSL1):c.1090A>G (p.Thr364Ala)	not provided [RCV001727374]	conflicting interpretations of pathogenicity\|uncertain significance	6	106655662	106655662	Human		name
151802046	CV1364492	single nucleotide variant	NM_018292.5(QRSL1):c.1097G>A (p.Arg366Gln)	Inborn genetic diseases [RCV002573522]\|not provided [RCV001991043]	conflicting interpretations of pathogenicity\|uncertain significance	6	106655669	106655669	Human	1	name
152083607	CV1526392	single nucleotide variant	NM_018292.5(QRSL1):c.1161A>C (p.Glu387Asp)	QRSL1-related disorder [RCV003941308]\|not provided [RCV002170868]	likely benign	6	106662980	106662980	Human	1	name , trait , alternate_id
152032139	CV1546210	single nucleotide variant	NM_018292.5(QRSL1):c.1063G>T (p.Val355Leu)	QRSL1-related disorder [RCV003978724]\|not provided [RCV002124690]	benign	6	106655635	106655635	Human	1	name , trait , alternate_id
156350935	CV1965419	single nucleotide variant	NM_018292.5(QRSL1):c.1078A>G (p.Met360Val)	not provided [RCV002581056]	uncertain significance	6	106655650	106655650	Human		name
156321357	CV2022076	single nucleotide variant	NM_018292.5(QRSL1):c.1418T>C (p.Ile473Thr)	not provided [RCV002717111]	uncertain significance	6	106665833	106665833	Human		name
156075050	CV2083429	single nucleotide variant	NM_018292.5(QRSL1):c.1172A>G (p.Asn391Ser)	not provided [RCV002847196]	uncertain significance	6	106662991	106662991	Human		name
156099078	CV2103062	single nucleotide variant	NM_018292.5(QRSL1):c.1442C>T (p.Ala481Val)	Inborn genetic diseases [RCV002913332]\|not provided [RCV002895935]	uncertain significance	6	106665857	106665857	Human	1	name
156309439	CV2111190	single nucleotide variant	NM_018292.5(QRSL1):c.1049G>A (p.Arg350Lys)	not provided [RCV002937079]	likely benign	6	106655621	106655621	Human		name
156368348	CV2113247	single nucleotide variant	NM_018292.5(QRSL1):c.1294G>A (p.Glu432Lys)	not provided [RCV002942129]	likely benign	6	106663113	106663113	Human		name
156316976	CV2169300	single nucleotide variant	NM_018292.5(QRSL1):c.1025T>C (p.Phe342Ser)	not provided [RCV003028919]	uncertain significance	6	106654905	106654905	Human		name
155974178	CV2221015	single nucleotide variant	NM_018292.5(QRSL1):c.1132C>T (p.Leu378Phe)	Inborn genetic diseases [RCV002731881]	uncertain significance	6	106655704	106655704	Human	1	name
156365382	CV2272102	single nucleotide variant	NM_018292.5(QRSL1):c.1204C>G (p.Leu402Val)	Inborn genetic diseases [RCV002813463]	uncertain significance	6	106663023	106663023	Human	1	name
156191159	CV2289325	single nucleotide variant	NM_018292.5(QRSL1):c.1286C>G (p.Pro429Arg)	Inborn genetic diseases [RCV002874249]	uncertain significance	6	106663105	106663105	Human	1	name
156276123	CV2290812	single nucleotide variant	NM_018292.5(QRSL1):c.1360A>G (p.Met454Val)	Inborn genetic diseases [RCV002896221]	uncertain significance	6	106663179	106663179	Human	1	name
156089085	CV2295560	single nucleotide variant	NM_018292.5(QRSL1):c.1237T>C (p.Ser413Pro)	Inborn genetic diseases [RCV002887903]	uncertain significance	6	106663056	106663056	Human	1	name
156244873	CV2313271	single nucleotide variant	NM_018292.5(QRSL1):c.1303A>G (p.Lys435Glu)	Inborn genetic diseases [RCV002919552]	uncertain significance	6	106663122	106663122	Human	1	name
401747021	CV2692046	single nucleotide variant	NM_018292.5(QRSL1):c.1043G>A (p.Gly348Asp)	Inborn genetic diseases [RCV003275840]	uncertain significance	6	106655615	106655615	Human	1	name
401772620	CV2719700	single nucleotide variant	NM_018292.5(QRSL1):c.1201C>A (p.Arg401Ser)	Inborn genetic diseases [RCV003304726]	uncertain significance	6	106663020	106663020	Human	1	name
405695615	CV3226654	single nucleotide variant	NM_018292.5(QRSL1):c.1097G>C (p.Arg366Pro)	not provided [RCV003993047]	uncertain significance	6	106655669	106655669	Human		name
405668687	CV3308329	single nucleotide variant	NM_018292.5(QRSL1):c.1058T>C (p.Ile353Thr)	Inborn genetic diseases [RCV004440801]	uncertain significance	6	106655630	106655630	Human	1	name
405668693	CV3308330	single nucleotide variant	NM_018292.5(QRSL1):c.1351G>T (p.Ala451Ser)	Inborn genetic diseases [RCV004440802]	uncertain significance	6	106663170	106663170	Human	1	name
405668699	CV3308331	single nucleotide variant	NM_018292.5(QRSL1):c.1352C>A (p.Ala451Asp)	Inborn genetic diseases [RCV004440803]	uncertain significance	6	106663171	106663171	Human	1	name
405668703	CV3308332	single nucleotide variant	NM_018292.5(QRSL1):c.1535G>T (p.Cys512Phe)	Inborn genetic diseases [RCV004440804]\|not provided [RCV005104650]	uncertain significance	6	106665950	106665950	Human	1	name
405866617	CV3401022	single nucleotide variant	NM_018292.5(QRSL1):c.1495C>T (p.Gln499Ter)	Combined oxidative phosphorylation deficiency 40 [RCV004577138]	uncertain significance	6	106665910	106665910	Human	1	name
597707018	CV3592688	single nucleotide variant	NM_018292.5(QRSL1):c.1132C>A (p.Leu378Ile)	Inborn genetic diseases [RCV004957460]	uncertain significance	6	106655704	106655704	Human	1	name
597707031	CV3592690	single nucleotide variant	NM_018292.5(QRSL1):c.1325G>A (p.Ser442Asn)	Inborn genetic diseases [RCV004957462]	uncertain significance	6	106663144	106663144	Human	1	name
598252810	CV3898358	single nucleotide variant	NM_018292.5(QRSL1):c.1258A>G (p.Thr420Ala)	Inborn genetic diseases [RCV005259482]	uncertain significance	6	106663077	106663077	Human	1	name
151774311	CV1505068	duplication	NM_018292.5(QRSL1):c.1531_1532dup (p.Asp511fs)	not provided [RCV001988543]	uncertain significance	6	106665945	106665946	Human		name
597927559	CV3788695	deletion	NM_018292.5(QRSL1):c.498del (p.Leu166_Ile167insTer)	not provided [RCV005131173]	pathogenic	6	106649142	106649142	Human		name
13803371	CV550146	indel	NM_018292.5(QRSL1):c.1279_1280delinsTT (p.Ala427Leu)	Cardiomyopathy, mitochondrial [RCV000684833]\|Combined oxidative phosphorylation deficiency 40 [RCV001035460]\|not provided [RCV002531385]	pathogenic\|uncertain significance	6	106663098	106663099	Human		name
401903707	CV2800080	indel	NM_018292.5(QRSL1):c.1216_1218delinsTTT (p.Asp406Phe)	QRSL1-related disorder [RCV003394511]	uncertain significance	6	106663035	106663037	Human		name , trait , alternate_id
13803370	CV550145	indel	NM_018292.5(QRSL1):c.587_596delinsACAAAAATCA (p.Thr196_Pro199delinsAsnLysAsnHis)	Cardiomyopathy, mitochondrial [RCV000684832]	pathogenic	6	106652238	106652247	Human		name

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