Bcs1l Variant Search Result - Rat Genome Database

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546 records found for search term Bcs1l

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
596938779	CV3544496	single nucleotide variant	NM_004328.4(BCS1L):c.-331G>T	Neuromuscular disease [RCV004801978]	uncertain significance	2	218659671	218659671	Human	1	name
10410652	CV210767	single nucleotide variant	NM_001079866.2(BCS1L):c.-43G>A	GRACILE syndrome [RCV000382259]\|Leigh syndrome [RCV000289306]\|Mitochondrial complex III deficiency nuclear type 1 [RCV000341934]\|not specified [RCV000198605]	benign\|uncertain significance	2	218660945	218660945	Human	3	name
11644488	CV285379	single nucleotide variant	NM_001079866.2(BCS1L):c.-53G>T	GRACILE syndrome [RCV000260413]\|Leigh syndrome [RCV000355262]\|Mitochondrial complex III deficiency nuclear type 1 [RCV000315836]	uncertain significance	2	218659740	218659740	Human	3	name
11588343	CV287612	single nucleotide variant	NM_001079866.2(BCS1L):c.-14G>A	GRACILE syndrome [RCV000340599]\|Leigh syndrome [RCV000395551]\|Mitochondrial complex III deficiency nuclear type 1 [RCV000302189]\|not specified [RCV000605569]	likely benign\|uncertain significance	2	218660974	218660974	Human	3	name
28900014	CV883749	single nucleotide variant	NM_001079866.2(BCS1L):c.-85G>A	GRACILE syndrome [RCV001142599]\|Leigh syndrome [RCV001142598]\|Mitochondrial complex III deficiency nuclear type 1 [RCV001142597]\|Pili torti-deafness syndrome [RCV002491427]	uncertain significance	2	218659708	218659708	Human	4	name
127238217	CV1069066	single nucleotide variant	NM_001079866.2(BCS1L):c.720-7T>C	not provided [RCV001397283]	likely benign	2	218662503	218662503	Human		name
127241796	CV1069068	single nucleotide variant	NM_001079866.2(BCS1L):c.890-6C>T	not provided [RCV001398071]	likely benign	2	218662877	218662877	Human		name
127284148	CV1090742	single nucleotide variant	NM_001079866.2(BCS1L):c.320+8G>A	not provided [RCV001449017]	likely benign	2	218661315	218661315	Human		name
127243740	CV1090752	single nucleotide variant	NM_001079866.2(BCS1L):c.719+7A>G	not provided [RCV001424008]	likely benign	2	218662267	218662267	Human		name
127275512	CV1090757	single nucleotide variant	NM_001079866.2(BCS1L):c.889+9G>C	not provided [RCV001443355]	likely benign	2	218662688	218662688	Human		name
127297860	CV1133187	single nucleotide variant	NM_001079866.2(BCS1L):c.321-4T>G	not provided [RCV001497864]	likely benign	2	218661402	218661402	Human		name
127302627	CV1133188	single nucleotide variant	NM_001079866.2(BCS1L):c.461-5C>T	not provided [RCV001478986]	likely benign	2	218661754	218661754	Human		name
127294105	CV1133191	single nucleotide variant	NM_001079866.2(BCS1L):c.656-5C>T	not provided [RCV001496912]	likely benign	2	218662192	218662192	Human		name
151860352	CV1452251	single nucleotide variant	NM_001079866.2(BCS1L):c.720-2A>G	not provided [RCV002017679]	likely pathogenic	2	218662508	218662508	Human		name
151837423	CV1468067	single nucleotide variant	NM_001079866.2(BCS1L):c.320+1G>A	not provided [RCV001956328]	pathogenic	2	218661308	218661308	Human		name
152122290	CV1521587	single nucleotide variant	NM_001079866.2(BCS1L):c.655+9C>T	not provided [RCV002135863]	likely benign	2	218661962	218661962	Human		name
152092816	CV1531126	single nucleotide variant	NM_001079866.2(BCS1L):c.656-7T>C	not provided [RCV002114308]	likely benign	2	218662190	218662190	Human		name
152042991	CV1581517	single nucleotide variant	NM_001079866.2(BCS1L):c.655+9C>G	not provided [RCV002071257]	likely benign	2	218661962	218661962	Human		name
152078861	CV1602212	single nucleotide variant	NM_001079866.2(BCS1L):c.321-7T>C	not provided [RCV002149041]	likely benign	2	218661399	218661399	Human		name
152072524	CV1643788	single nucleotide variant	NM_001079866.2(BCS1L):c.461-5C>G	not provided [RCV002111651]	likely benign	2	218661754	218661754	Human		name
152982662	CV1677585	single nucleotide variant	NM_001079866.2(BCS1L):c.655+1G>C	Mitochondrial complex III deficiency nuclear type 1 [RCV002249295]	pathogenic	2	218661954	218661954	Human	1	name
156344055	CV1958061	single nucleotide variant	NM_001079866.2(BCS1L):c.720-4A>G	not provided [RCV002580667]	likely benign	2	218662506	218662506	Human		name
156156891	CV2049340	single nucleotide variant	NM_001079866.2(BCS1L):c.889+2T>G	not provided [RCV002801484]	likely pathogenic	2	218662681	218662681	Human		name
156006075	CV2064834	deletion	NM_001079866.2(BCS1L):c.461-8del	not provided [RCV002843634]	likely benign	2	218661750	218661750	Human		name
155974865	CV2088777	single nucleotide variant	NM_001079866.2(BCS1L):c.890-7C>G	not provided [RCV002863486]	likely benign	2	218662876	218662876	Human		name
156159596	CV2095108	single nucleotide variant	NM_001079866.2(BCS1L):c.655+6A>C	not provided [RCV002890939]	uncertain significance	2	218661959	218661959	Human		name
156153963	CV2175543	single nucleotide variant	NM_001079866.2(BCS1L):c.656-1G>A	not provided [RCV003040466]	likely pathogenic	2	218662196	218662196	Human		name
243053699	CV2418182	single nucleotide variant	NM_001079866.2(BCS1L):c.321-2A>G	Neonatal encephalopathy [RCV003154308]\|Pili torti-deafness syndrome [RCV003475536]	likely pathogenic	2	218661404	218661404	Human	2	name
405196023	CV2868848	single nucleotide variant	NM_001079866.2(BCS1L):c.720-8C>T	not provided [RCV003550839]	likely benign	2	218662502	218662502	Human		name
405213485	CV2918382	single nucleotide variant	NM_001079866.2(BCS1L):c.719+1G>T	not provided [RCV003567462]	likely pathogenic	2	218662261	218662261	Human		name
405070929	CV2933203	single nucleotide variant	NM_001079866.2(BCS1L):c.460+9T>C	not provided [RCV003581012]	likely benign	2	218661554	218661554	Human		name
405140690	CV2961896	single nucleotide variant	NM_001079866.2(BCS1L):c.890-8T>C	not provided [RCV003673138]	likely benign	2	218662875	218662875	Human		name
405234447	CV2972369	single nucleotide variant	NM_001079866.2(BCS1L):c.460+7G>A	not provided [RCV003682811]	likely benign	2	218661552	218661552	Human		name
405238916	CV2996906	deletion	NM_001079866.2(BCS1L):c.461-3del	not provided [RCV003718752]	likely benign	2	218661754	218661754	Human		name
405147311	CV3023973	single nucleotide variant	NM_001079866.2(BCS1L):c.889+9G>A	not provided [RCV003702950]	likely benign	2	218662688	218662688	Human		name
405123424	CV3046610	single nucleotide variant	NM_001079866.2(BCS1L):c.890-5T>A	not provided [RCV003724139]	likely benign	2	218662878	218662878	Human		name
405230146	CV3153828	single nucleotide variant	NM_001079866.2(BCS1L):c.890-4C>T	not provided [RCV003848695]	likely benign	2	218662879	218662879	Human		name
12739511	CV357239	single nucleotide variant	NM_001079866.2(BCS1L):c.460+2T>C	GRACILE syndrome [RCV000409791]\|not provided [RCV002523865]	likely pathogenic	2	218661547	218661547	Human	1	name
12739990	CV357242	single nucleotide variant	NM_001079866.2(BCS1L):c.655+1G>A	GRACILE syndrome [RCV000410918]	likely pathogenic	2	218661954	218661954	Human	1	name
12740104	CV357243	single nucleotide variant	NM_001079866.2(BCS1L):c.889+1G>T	GRACILE syndrome [RCV000411192]\|Pili torti-deafness syndrome [RCV002502421]\|Pili torti-deafness syndrome [RCV003475942]\|not provided [RCV000522697]	pathogenic\|likely pathogenic	2	218662680	218662680	Human	2	name
12840888	CV366365	single nucleotide variant	NM_001079866.2(BCS1L):c.461-9C>T	not provided [RCV000928304]\|not specified [RCV000431561]	benign\|likely benign	2	218661750	218661750	Human		name
597763170	CV3710212	single nucleotide variant	NM_001079866.2(BCS1L):c.460+5G>A	Pili torti-deafness syndrome [RCV005018637]	uncertain significance	2	218661550	218661550	Human	1	name
13785713	CV541798	single nucleotide variant	NM_001079866.2(BCS1L):c.-50+1G>A	GRACILE syndrome [RCV000672234]\|Pili torti-deafness syndrome [RCV005019146]	uncertain significance	2	218659744	218659744	Human	2	name
13785372	CV541800	single nucleotide variant	NM_001079866.2(BCS1L):c.-50+2T>G	GRACILE syndrome [RCV000671957]	uncertain significance	2	218659745	218659745	Human	1	name
13787011	CV541803	single nucleotide variant	NM_001079866.2(BCS1L):c.460+1G>A	GRACILE syndrome [RCV000673227]\|not provided [RCV003688875]	likely pathogenic	2	218661546	218661546	Human	1	name
13788920	CV541817	single nucleotide variant	NM_001079866.2(BCS1L):c.889+1G>A	GRACILE syndrome [RCV000665667]	likely pathogenic	2	218662680	218662680	Human	1	name
13783867	CV541888	single nucleotide variant	NM_001079866.2(BCS1L):c.-50+1G>T	GRACILE syndrome [RCV000670392]	uncertain significance	2	218659744	218659744	Human	1	name
13783210	CV541905	duplication	NM_001079866.2(BCS1L):c.889+2dup	GRACILE syndrome [RCV000669828]	uncertain significance	2	218662680	218662681	Human	1	name
14708194	CV658890	single nucleotide variant	NM_001079866.2(BCS1L):c.-50+7G>C	not provided [RCV000827069]	likely benign	2	218659750	218659750	Human		name
8617144	CV71051	single nucleotide variant	NM_001079866.2(BCS1L):c.320+1G>T	GRACILE syndrome [RCV000049825]\|Inborn genetic diseases [RCV002513688]\|Pili torti-deafness syndrome [RCV003474632]\|not provided [RCV000489556]	pathogenic\|likely pathogenic\|uncertain significance	2	218661308	218661308	Human	3	name
15199838	CV774669	single nucleotide variant	NM_001079866.2(BCS1L):c.656-4C>T	not provided [RCV000935216]	likely benign	2	218662193	218662193	Human		name
21068016	CV795162	single nucleotide variant	NM_001079866.2(BCS1L):c.655+2T>C	not provided [RCV000997666]	likely pathogenic	2	218661955	218661955	Human		name
127287702	CV1112290	single nucleotide variant	NM_001079866.2(BCS1L):c.1007+5G>A	BCS1L-related disorder [RCV004540357]\|not provided [RCV001450196]	likely benign	2	218663005	218663005	Human	1	name , trait , alternate_id
127299949	CV1133194	deletion	NM_001079866.2(BCS1L):c.889+12del	not provided [RCV001498463]	likely benign	2	218662688	218662688	Human		name
150332246	CV1168892	single nucleotide variant	NM_001079866.2(BCS1L):c.-49-80A>G	not provided [RCV001536799]	benign	2	218660859	218660859	Human		name
150472120	CV1281145	single nucleotide variant	NM_001079866.2(BCS1L):c.719+22C>T	not provided [RCV001713316]	benign	2	218662282	218662282	Human		name
8690259	CV140209	single nucleotide variant	NM_001079866.2(BCS1L):c.-50+13A>G	not specified [RCV000123836]	benign	2	218659756	218659756	Human		name
152047061	CV1591332	single nucleotide variant	NM_001079866.2(BCS1L):c.1007+8G>A	not provided [RCV002188948]	likely benign	2	218663008	218663008	Human		name
152040125	CV1649133	single nucleotide variant	NM_001079866.2(BCS1L):c.1008-5C>T	not provided [RCV002206220]	likely benign	2	218663129	218663129	Human		name
155936014	CV2024061	single nucleotide variant	NM_001079866.2(BCS1L):c.719+18C>G	not provided [RCV002774872]	likely benign	2	218662278	218662278	Human		name
155927865	CV2070934	single nucleotide variant	NM_001079866.2(BCS1L):c.460+17G>T	not provided [RCV002838613]	likely benign	2	218661562	218661562	Human		name
11578607	CV284709	single nucleotide variant	NM_001079866.2(BCS1L):c.321-12G>A	GRACILE syndrome [RCV000382055]\|Leigh syndrome [RCV000285241]\|Mitochondrial complex III deficiency nuclear type 1 [RCV000324948]\|not provided [RCV003574755]	likely benign\|uncertain significance	2	218661394	218661394	Human	3	name
402476600	CV2857326	single nucleotide variant	NM_001079866.2(BCS1L):c.460+52T>C	not provided [RCV003543479]	likely benign	2	218661597	218661597	Human		name
405083683	CV2865110	single nucleotide variant	NM_001079866.2(BCS1L):c.460+31G>A	not provided [RCV003549418]	likely benign	2	218661576	218661576	Human		name
405091937	CV2878122	single nucleotide variant	NM_001079866.2(BCS1L):c.719+16T>G	not provided [RCV003549962]	likely benign	2	218662276	218662276	Human		name
405239501	CV2882405	single nucleotide variant	NM_001079866.2(BCS1L):c.321-15A>G	not provided [RCV003557082]	likely benign	2	218661391	218661391	Human		name
405239584	CV2882438	single nucleotide variant	NM_001079866.2(BCS1L):c.889+12G>A	not provided [RCV003557103]	likely benign	2	218662691	218662691	Human		name
405025138	CV2889658	single nucleotide variant	NM_001079866.2(BCS1L):c.1007+9G>A	not provided [RCV003577920]	likely benign	2	218663009	218663009	Human		name
405153834	CV2894134	single nucleotide variant	NM_001079866.2(BCS1L):c.460+16G>A	not provided [RCV003561910]	likely benign	2	218661561	218661561	Human		name
405136013	CV2896889	single nucleotide variant	NM_001079866.2(BCS1L):c.890-16C>T	not provided [RCV003560383]	likely benign	2	218662867	218662867	Human		name
405113122	CV2900695	single nucleotide variant	NM_001079866.2(BCS1L):c.655+17G>C	not provided [RCV003558161]	likely benign	2	218661970	218661970	Human		name
402499772	CV2946933	single nucleotide variant	NM_001079866.2(BCS1L):c.461-15T>C	not provided [RCV003661483]	likely benign	2	218661744	218661744	Human		name
405161190	CV2950219	single nucleotide variant	NM_001079866.2(BCS1L):c.461-17C>T	not provided [RCV003674610]	likely benign	2	218661742	218661742	Human		name
405130818	CV2962349	single nucleotide variant	NM_001079866.2(BCS1L):c.656-17C>T	not provided [RCV003668312]	likely benign	2	218662180	218662180	Human		name
405139550	CV2970392	deletion	NM_001079866.2(BCS1L):c.321-10del	not provided [RCV003669078]	likely benign	2	218661395	218661395	Human		name
405242973	CV2974804	single nucleotide variant	NM_001079866.2(BCS1L):c.461-10T>C	not provided [RCV003684479]	likely benign	2	218661749	218661749	Human		name
402496940	CV2988787	single nucleotide variant	NM_001079866.2(BCS1L):c.460+33C>T	not provided [RCV003714348]	likely benign	2	218661578	218661578	Human		name
405145012	CV3027416	single nucleotide variant	NM_001079866.2(BCS1L):c.321-16G>C	not provided [RCV003702844]	likely benign	2	218661390	218661390	Human		name
405141254	CV3046061	single nucleotide variant	NM_001079866.2(BCS1L):c.460+34A>G	not provided [RCV003725663]	likely benign	2	218661579	218661579	Human		name
405250612	CV3052997	single nucleotide variant	NM_001079866.2(BCS1L):c.656-11T>C	not provided [RCV003721670]	likely benign	2	218662186	218662186	Human		name
405152962	CV3060261	single nucleotide variant	NM_001079866.2(BCS1L):c.889+17G>A	not provided [RCV003726525]	likely benign	2	218662696	218662696	Human		name
405231717	CV3070832	single nucleotide variant	NM_001079866.2(BCS1L):c.655+15G>T	not provided [RCV003735021]	likely benign	2	218661968	218661968	Human		name
405047117	CV3071758	single nucleotide variant	NM_001079866.2(BCS1L):c.460+38C>G	not provided [RCV003740335]	likely benign	2	218661583	218661583	Human		name
405244353	CV3080386	single nucleotide variant	NM_001079866.2(BCS1L):c.889+11G>A	not provided [RCV003738000]	likely benign	2	218662690	218662690	Human		name
405191998	CV3118181	single nucleotide variant	NM_001079866.2(BCS1L):c.320+10G>A	not provided [RCV003821091]	likely benign	2	218661317	218661317	Human		name
405218663	CV3135739	single nucleotide variant	NM_001079866.2(BCS1L):c.890-19T>C	not provided [RCV003824364]	likely benign	2	218662864	218662864	Human		name
405248017	CV3159206	single nucleotide variant	NM_001079866.2(BCS1L):c.890-10C>T	not provided [RCV003869351]	likely benign	2	218662873	218662873	Human		name
405213472	CV3169839	single nucleotide variant	NM_001079866.2(BCS1L):c.321-13C>T	not provided [RCV003862438]	likely benign	2	218661393	218661393	Human		name
12834172	CV366408	single nucleotide variant	NM_001079866.2(BCS1L):c.-49-12C>G	not provided [RCV000419901]	uncertain significance	2	218660927	218660927	Human		name
597879981	CV3826327	single nucleotide variant	NM_001079866.2(BCS1L):c.655+17G>A	not provided [RCV005178023]	likely benign	2	218661970	218661970	Human		name
597926299	CV3840671	single nucleotide variant	NM_001079866.2(BCS1L):c.461-16A>T	not provided [RCV005185142]	likely benign	2	218661743	218661743	Human		name
12899090	CV405615	deletion	NM_001079866.2(BCS1L):c.460+11del	Pili torti-deafness syndrome [RCV002496864]\|not provided [RCV001403748]\|not specified [RCV000479414]	likely benign	2	218661555	218661555	Human	1	name
13539762	CV499526	single nucleotide variant	NM_001079866.2(BCS1L):c.1008-5C>A	not provided [RCV000944543]	likely benign	2	218663129	218663129	Human		name
14730399	CV658791	single nucleotide variant	NM_001079866.2(BCS1L):c.655+63C>T	GRACILE syndrome [RCV001527147]\|Mitochondrial complex III deficiency nuclear type 1 [RCV001527148]\|Pili torti-deafness syndrome [RCV001527146]\|not provided [RCV000835663]	benign	2	218662016	218662016	Human	3	name
150420293	CV1196821	single nucleotide variant	NM_001079866.2(BCS1L):c.-50+555C>A	not provided [RCV001577547]	likely benign	2	218660298	218660298	Human		name
150508739	CV1229720	single nucleotide variant	NM_001079866.2(BCS1L):c.-49-390A>G	not provided [RCV001636298]	benign	2	218660549	218660549	Human		name
150444821	CV1249473	single nucleotide variant	NM_001079866.2(BCS1L):c.-50+563G>A	GRACILE syndrome [RCV001827572]\|not provided [RCV001666906]	benign	2	218660306	218660306	Human	1	name
8690257	CV140207	single nucleotide variant	NM_001079866.2(BCS1L):c.1007+16G>A	Pili torti-deafness syndrome [RCV002492450]\|not provided [RCV002055429]\|not specified [RCV000123834]	benign\|likely benign	2	218663016	218663016	Human	1	name
152043690	CV1530669	single nucleotide variant	NM_001079866.2(BCS1L):c.1007+10A>G	not provided [RCV002071348]	likely benign	2	218663010	218663010	Human		name
152979413	CV1675549	single nucleotide variant	NM_001079866.2(BCS1L):c.-50+380G>C	GRACILE syndrome [RCV002244139]	uncertain significance	2	218660123	218660123	Human	1	name
156309253	CV1895179	single nucleotide variant	NM_001079866.2(BCS1L):c.1007+12C>T	not provided [RCV003088341]	likely benign	2	218663012	218663012	Human		name
156340052	CV2055316	single nucleotide variant	NM_001079866.2(BCS1L):c.1008-13T>G	not provided [RCV002811149]	likely benign	2	218663121	218663121	Human		name
401949479	CV2833875	single nucleotide variant	NM_001079866.2(BCS1L):c.-50+326A>G	Pili torti-deafness syndrome [RCV003474339]\|Pili torti-deafness syndrome [RCV005030052]\|not specified [RCV004587501]	likely pathogenic\|uncertain significance	2	218660069	218660069	Human	1	name
11586895	CV285380	single nucleotide variant	NM_001079866.2(BCS1L):c.-50+458T>G	GRACILE syndrome [RCV000346257]\|Leigh syndrome [RCV000385604]\|Mitochondrial complex III deficiency nuclear type 1 [RCV000291289]\|not provided [RCV000676998]	uncertain significance	2	218660201	218660201	Human	3	name
11647329	CV287849	single nucleotide variant	NM_001079866.2(BCS1L):c.-50+425T>C	GRACILE syndrome [RCV000275953]\|Leigh syndrome [RCV000389070]\|Mitochondrial complex III deficiency nuclear type 1 [RCV000330985]	uncertain significance	2	218660168	218660168	Human	3	name
405117787	CV3116012	deletion	NM_001079866.2(BCS1L):c.1008-13del	not provided [RCV003814502]	likely benign	2	218663121	218663121	Human		name
405185721	CV3124302	single nucleotide variant	NM_001079866.2(BCS1L):c.1007+17C>T	not provided [RCV003820501]	likely benign	2	218663017	218663017	Human		name
405244602	CV3161541	single nucleotide variant	NM_001079866.2(BCS1L):c.1007+14A>G	not provided [RCV003868253]	likely benign	2	218663014	218663014	Human		name
597895387	CV3781883	single nucleotide variant	NM_001079866.2(BCS1L):c.1008-15C>G	not provided [RCV005126311]	likely benign	2	218663119	218663119	Human		name
13526405	CV499759	single nucleotide variant	NM_001079866.2(BCS1L):c.-50+282C>T	not specified [RCV000604118]	likely benign	2	218660025	218660025	Human		name
13792285	CV541892	single nucleotide variant	NM_001079866.2(BCS1L):c.-50+405A>G	GRACILE syndrome [RCV000668517]\|Mitochondrial complex III deficiency nuclear type 1 [RCV001334241]\|not provided [RCV002532074]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	2	218660148	218660148	Human	2	name
13790037	CV549892	single nucleotide variant	NM_001079866.2(BCS1L):c.-49-530C>T	not provided [RCV000676999]	likely benign	2	218660409	218660409	Human		name
14724500	CV658809	single nucleotide variant	NM_001079866.2(BCS1L):c.-50+541G>A	GRACILE syndrome [RCV001273159]\|not provided [RCV000833013]	benign	2	218660284	218660284	Human	1	name
14731566	CV658816	deletion	NM_001079866.2(BCS1L):c.-49-435del	not provided [RCV000836188]	likely benign	2	218660504	218660504	Human		name
14713676	CV658817	single nucleotide variant	NM_001079866.2(BCS1L):c.-49-327C>T	not provided [RCV000828788]	benign	2	218660612	218660612	Human		name
14728642	CV658891	single nucleotide variant	NM_001079866.2(BCS1L):c.-49-595A>G	GRACILE syndrome [RCV001835985]\|not provided [RCV000834868]	benign\|likely benign	2	218660344	218660344	Human	1	name
8617143	CV71050	single nucleotide variant	NM_001079866.2(BCS1L):c.-49-539T>A	GRACILE syndrome [RCV000049824]\|not provided [RCV003556129]\|not specified [RCV004700349]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	2	218660400	218660400	Human	1	name
21071093	CV790196	single nucleotide variant	NM_001079866.2(BCS1L):c.-50+388C>G	GRACILE syndrome [RCV000987030]	likely pathogenic	2	218660131	218660131	Human	1	name
405236611	CV3076671	microsatellite	NM_001079866.2(BCS1L):c.719+17TC[2]	not provided [RCV003736011]	likely benign	2	218662277	218662278	Human		name
150514124	CV1228065	deletion	NM_001079866.2(BCS1L):c.461-9_461-7del	BCS1L-related disorder [RCV004536237]\|not provided [RCV001638343]	likely benign	2	218661748	218661750	Human	1	name , trait , alternate_id
156232923	CV1956094	single nucleotide variant	NM_001079866.2(BCS1L):c.24G>A (p.Leu8=)	not provided [RCV002575945]	likely benign	2	218661011	218661011	Human		name
15123081	CV762918	single nucleotide variant	NM_001079866.2(BCS1L):c.21T>A (p.Ile7=)	not provided [RCV000940790]	likely benign	2	218661008	218661008	Human		name
126737871	CV1000322	single nucleotide variant	NM_001079866.2(BCS1L):c.64C>T (p.Leu22=)	not provided [RCV001311985]	conflicting interpretations of pathogenicity\|uncertain significance	2	218661051	218661051	Human		name
127260648	CV1069060	single nucleotide variant	NM_001079866.2(BCS1L):c.54T>C (p.Ala18=)	not provided [RCV001420090]	likely benign	2	218661041	218661041	Human		name
150431636	CV1206409	deletion	NM_001079866.2(BCS1L):c.720-86_720-85del	not provided [RCV001581058]	likely benign	2	218662424	218662425	Human		name
151718369	CV1469317	single nucleotide variant	NM_001079866.2(BCS1L):c.1A>G (p.Met1Val)	not provided [RCV002039685]	pathogenic	2	218660988	218660988	Human		name
152082511	CV1558828	single nucleotide variant	NM_001079866.2(BCS1L):c.96C>T (p.Ala32=)	not provided [RCV002149498]	likely benign	2	218661083	218661083	Human		name
156218526	CV1928056	deletion	NM_001079866.2(BCS1L):c.461-16_461-14del	not provided [RCV002644305]	likely benign	2	218661741	218661743	Human		name
156081309	CV2098683	single nucleotide variant	NM_001079866.2(BCS1L):c.5C>T (p.Pro2Leu)	not provided [RCV002912713]	uncertain significance	2	218660992	218660992	Human		name
401867566	CV2748946	single nucleotide variant	NM_001079866.2(BCS1L):c.1A>T (p.Met1Leu)	GRACILE syndrome [RCV003331768]\|not provided [RCV003669387]	pathogenic\|likely pathogenic	2	218660988	218660988	Human	1	name
405204477	CV2858595	single nucleotide variant	NM_001079866.2(BCS1L):c.28C>T (p.Leu10=)	not provided [RCV003551766]	likely benign	2	218661015	218661015	Human		name
402491141	CV2866795	single nucleotide variant	NM_001079866.2(BCS1L):c.78C>T (p.Gly26=)	not provided [RCV003573025]	likely benign	2	218661065	218661065	Human		name
402518224	CV3135978	single nucleotide variant	NM_001079866.2(BCS1L):c.75G>C (p.Val25=)	not provided [RCV003824604]	likely benign	2	218661062	218661062	Human		name
13537220	CV499928	microsatellite	NM_001079866.2(BCS1L):c.461-12_461-10del	not provided [RCV001719123]	likely benign\|conflicting interpretations of pathogenicity	2	218661744	218661746	Human		name
13789025	CV541910	deletion	NM_001079866.2(BCS1L):c.1007+2_1007+5del	GRACILE syndrome [RCV000665738]\|Pili torti-deafness syndrome [RCV005019105]	likely pathogenic	2	218662999	218663002	Human	2	name
26902556	CV857628	deletion	NM_001079866.2(BCS1L):c.460+37_460+53del	Decreased activity of mitochondrial complex III [RCV001089494]	uncertain significance	2	218661574	218661590	Human	2	name
127246355	CV1069061	single nucleotide variant	NM_001079866.2(BCS1L):c.210C>T (p.His70=)	not provided [RCV001416730]	likely benign	2	218661197	218661197	Human		name
127269725	CV1069062	single nucleotide variant	NM_001079866.2(BCS1L):c.216C>G (p.Thr72=)	not provided [RCV001404785]	likely benign	2	218661203	218661203	Human		name
127259154	CV1090740	single nucleotide variant	NM_001079866.2(BCS1L):c.111A>G (p.Gln37=)	not provided [RCV001427543]	likely benign	2	218661098	218661098	Human		name
127318035	CV1112282	single nucleotide variant	NM_001079866.2(BCS1L):c.183C>T (p.Ala61=)	not provided [RCV001466060]	likely benign	2	218661170	218661170	Human		name
127310110	CV1112283	single nucleotide variant	NM_001079866.2(BCS1L):c.237C>T (p.Val79=)	not provided [RCV001456541]	likely benign	2	218661224	218661224	Human		name
127294095	CV1133185	single nucleotide variant	NM_001079866.2(BCS1L):c.147C>T (p.Ile49=)	not provided [RCV001496911]	likely benign	2	218661134	218661134	Human		name
127335103	CV1133186	single nucleotide variant	NM_001079866.2(BCS1L):c.246G>T (p.Ser82=)	not provided [RCV001491279]	likely benign	2	218661233	218661233	Human		name
150543234	CV1309372	single nucleotide variant	NM_001079866.2(BCS1L):c.225G>A (p.Gln75=)	not provided [RCV003238442]	uncertain significance	2	218661212	218661212	Human		name
152027506	CV1520844	single nucleotide variant	NM_001079866.2(BCS1L):c.204C>T (p.Thr68=)	not provided [RCV002085154]	likely benign	2	218661191	218661191	Human		name
152087535	CV1536421	single nucleotide variant	NM_001079866.2(BCS1L):c.153G>T (p.Leu51=)	not provided [RCV002171384]	likely benign	2	218661140	218661140	Human		name
152169682	CV1546427	single nucleotide variant	NM_001079866.2(BCS1L):c.150A>G (p.Thr50=)	not provided [RCV002142867]	likely benign	2	218661137	218661137	Human		name
152118878	CV1589007	single nucleotide variant	NM_001079866.2(BCS1L):c.243T>C (p.Thr81=)	not provided [RCV002216510]	likely benign	2	218661230	218661230	Human		name
152049072	CV1627658	single nucleotide variant	NM_001079866.2(BCS1L):c.159C>A (p.Val53=)	not provided [RCV002108715]	likely benign	2	218661146	218661146	Human		name
156407284	CV1875139	single nucleotide variant	NM_001079866.2(BCS1L):c.11C>T (p.Ser4Leu)	Pili torti-deafness syndrome [RCV005019594]\|not provided [RCV003070802]	uncertain significance	2	218660998	218660998	Human	1	name
156219971	CV2024990	single nucleotide variant	NM_001079866.2(BCS1L):c.285T>C (p.Phe95=)	not provided [RCV002712104]	likely benign	2	218661272	218661272	Human		name
10411565	CV210768	single nucleotide variant	NM_001079866.2(BCS1L):c.126A>G (p.Ala42=)	GRACILE syndrome [RCV001140853]\|Leigh syndrome [RCV001140093]\|Mitochondrial complex III deficiency nuclear type 1 [RCV001140092]\|not provided [RCV000886562]\|not specified [RCV000200525]	likely pathogenic\|benign\|likely benign\|uncertain significance	2	218661113	218661113	Human	3	name
11578077	CV274559	single nucleotide variant	NM_001079866.2(BCS1L):c.201C>T (p.Leu67=)	GRACILE syndrome [RCV000313563]\|Leigh syndrome [RCV000273790]\|Mitochondrial complex III deficiency nuclear type 1 [RCV000370613]\|not provided [RCV000376147]	conflicting interpretations of pathogenicity\|uncertain significance	2	218661188	218661188	Human	3	name
11646649	CV285385	single nucleotide variant	NM_001079866.2(BCS1L):c.258T>C (p.His86=)	GRACILE syndrome [RCV000330882]\|Leigh syndrome [RCV000272188]\|Mitochondrial complex III deficiency nuclear type 1 [RCV000364504]\|not provided [RCV000982868]	likely benign\|uncertain significance	2	218661245	218661245	Human	3	name
405126030	CV2886391	duplication	NM_001079866.2(BCS1L):c.67dup (p.Val23fs)	not provided [RCV003559514]	pathogenic	2	218661052	218661053	Human		name
405140098	CV2903766	single nucleotide variant	NM_001079866.2(BCS1L):c.108C>G (p.Val36=)	not provided [RCV003560778]	likely benign	2	218661095	218661095	Human		name
405184539	CV2920458	single nucleotide variant	NM_001079866.2(BCS1L):c.132G>C (p.Arg44=)	not provided [RCV003564328]	likely benign	2	218661119	218661119	Human		name
405214173	CV2925108	single nucleotide variant	NM_001079866.2(BCS1L):c.189G>A (p.Leu63=)	not provided [RCV003567568]	likely benign	2	218661176	218661176	Human		name
405194023	CV2925651	single nucleotide variant	NM_001079866.2(BCS1L):c.279T>C (p.Thr93=)	not provided [RCV003565178]	likely benign	2	218661266	218661266	Human		name
405100500	CV2947854	single nucleotide variant	NM_001079866.2(BCS1L):c.102G>A (p.Lys34=)	not provided [RCV003665947]	likely benign	2	218661089	218661089	Human		name
405242839	CV3043823	single nucleotide variant	NM_001079866.2(BCS1L):c.246G>A (p.Ser82=)	not provided [RCV003719596]	likely benign	2	218661233	218661233	Human		name
405222304	CV3056946	single nucleotide variant	NM_001079866.2(BCS1L):c.105T>C (p.Gly35=)	not provided [RCV003733500]	likely benign	2	218661092	218661092	Human		name
405175260	CV3150618	single nucleotide variant	NM_001079866.2(BCS1L):c.172A>C (p.Arg58=)	not provided [RCV003841892]	likely benign	2	218661159	218661159	Human		name
405175272	CV3150619	single nucleotide variant	NM_001079866.2(BCS1L):c.234T>C (p.Ser78=)	not provided [RCV003841893]	likely benign	2	218661221	218661221	Human		name
405243473	CV3164837	single nucleotide variant	NM_001079866.2(BCS1L):c.174G>A (p.Arg58=)	not provided [RCV003867918]	likely benign	2	218661161	218661161	Human		name
405707196	CV3225347	single nucleotide variant	NM_001079866.2(BCS1L):c.25G>A (p.Ala9Thr)	Mitochondrial complex III deficiency nuclear type 1 [RCV003990401]	pathogenic	2	218661012	218661012	Human	1	name
12841306	CV366412	single nucleotide variant	NM_001079866.2(BCS1L):c.171C>T (p.Asp57=)	BCS1L-related disorder [RCV004539801]\|GRACILE syndrome [RCV001140854]\|Leigh syndrome [RCV001140856]\|Mitochondrial complex III deficiency nuclear type 1 [RCV001140855]\|not provided [RCV001484726]\|not specified [RCV000432338]	likely benign\|uncertain significance	2	218661158	218661158	Human	3	name , trait , alternate_id
598201789	CV3938722	single nucleotide variant	NM_001079866.2(BCS1L):c.19A>G (p.Ile7Val)	Inborn genetic diseases [RCV005314309]	likely benign	2	218661006	218661006	Human	1	name
13783874	CV541728	deletion	NM_001079866.2(BCS1L):c.53del (p.Ala18fs)	GRACILE syndrome [RCV000670398]	likely pathogenic	2	218661040	218661040	Human	1	name
15188626	CV762919	single nucleotide variant	NM_001079866.2(BCS1L):c.118C>T (p.Leu40=)	not provided [RCV000932003]	likely benign	2	218661105	218661105	Human		name
15136010	CV762920	single nucleotide variant	NM_001079866.2(BCS1L):c.180T>C (p.Tyr60=)	not provided [RCV000943010]	likely benign	2	218661167	218661167	Human		name
15102627	CV781170	single nucleotide variant	NM_001079866.2(BCS1L):c.112C>T (p.Leu38=)	not provided [RCV000975840]	likely benign	2	218661099	218661099	Human		name
15119025	CV781171	single nucleotide variant	NM_001079866.2(BCS1L):c.243T>A (p.Thr81=)	not provided [RCV000979050]	likely benign	2	218661230	218661230	Human		name
15104314	CV781172	single nucleotide variant	NM_001079866.2(BCS1L):c.291T>C (p.Phe97=)	not provided [RCV000976195]	likely benign	2	218661278	218661278	Human		name
127248950	CV1069063	single nucleotide variant	NM_001079866.2(BCS1L):c.615C>A (p.Val205=)	not provided [RCV001417240]	likely benign	2	218661913	218661913	Human		name
127247939	CV1069064	single nucleotide variant	NM_001079866.2(BCS1L):c.648T>C (p.Thr216=)	not provided [RCV001394343]	likely benign	2	218661946	218661946	Human		name
127247201	CV1069065	single nucleotide variant	NM_001079866.2(BCS1L):c.678C>T (p.Tyr226=)	not provided [RCV001394225]	likely benign	2	218662219	218662219	Human		name
127280277	CV1069067	single nucleotide variant	NM_001079866.2(BCS1L):c.816G>C (p.Val272=)	not provided [RCV001409690]	likely benign	2	218662606	218662606	Human		name
127231273	CV1069069	single nucleotide variant	NM_001079866.2(BCS1L):c.910C>T (p.Leu304=)	not provided [RCV001395217]	likely benign	2	218662903	218662903	Human		name
127280996	CV1069070	single nucleotide variant	NM_001079866.2(BCS1L):c.918C>T (p.Arg306=)	not provided [RCV001410161]	likely benign	2	218662911	218662911	Human		name
127236248	CV1069071	single nucleotide variant	NM_001079866.2(BCS1L):c.978C>T (p.Ile326=)	not provided [RCV001392043]	likely benign	2	218662971	218662971	Human		name
127261113	CV1090741	single nucleotide variant	NM_001079866.2(BCS1L):c.309C>T (p.Asn103=)	not provided [RCV001428016]	likely benign	2	218661296	218661296	Human		name
127277680	CV1090743	single nucleotide variant	NM_001079866.2(BCS1L):c.384G>A (p.Thr128=)	not provided [RCV001444570]	likely benign	2	218661469	218661469	Human		name
127284133	CV1090744	single nucleotide variant	NM_001079866.2(BCS1L):c.393T>C (p.Pro131=)	not provided [RCV001449001]	likely benign	2	218661478	218661478	Human		name
127257173	CV1090745	single nucleotide variant	NM_001079866.2(BCS1L):c.426T>C (p.Thr142=)	not provided [RCV001437856]	likely benign	2	218661511	218661511	Human		name
127255441	CV1090746	single nucleotide variant	NM_001079866.2(BCS1L):c.471A>G (p.Leu157=)	not provided [RCV001437463]	likely benign	2	218661769	218661769	Human		name
127256895	CV1090747	single nucleotide variant	NM_001079866.2(BCS1L):c.567T>C (p.Asn189=)	not provided [RCV001437806]	likely benign	2	218661865	218661865	Human		name
127280967	CV1090748	single nucleotide variant	NM_001079866.2(BCS1L):c.597C>T (p.Asp199=)	not provided [RCV001446823]	likely benign	2	218661895	218661895	Human		name
127271250	CV1090749	single nucleotide variant	NM_001079866.2(BCS1L):c.633C>T (p.Asn211=)	not provided [RCV001441763]	likely benign	2	218661931	218661931	Human		name
127274670	CV1090750	single nucleotide variant	NM_001079866.2(BCS1L):c.651C>T (p.Asp217=)	not provided [RCV001442937]	likely benign	2	218661949	218661949	Human		name
127266531	CV1090751	single nucleotide variant	NM_001079866.2(BCS1L):c.708G>A (p.Lys236=)	not provided [RCV001440253]	likely benign	2	218662249	218662249	Human		name
127254420	CV1090753	single nucleotide variant	NM_001079866.2(BCS1L):c.759G>A (p.Leu253=)	not provided [RCV001426298]	likely benign	2	218662549	218662549	Human		name
127260954	CV1090754	single nucleotide variant	NM_001079866.2(BCS1L):c.798C>G (p.Leu266=)	not provided [RCV001427992]	likely benign	2	218662588	218662588	Human		name
127262601	CV1090755	single nucleotide variant	NM_001079866.2(BCS1L):c.876C>T (p.Asp292=)	not provided [RCV001428379]	likely benign	2	218662666	218662666	Human		name
127250469	CV1090756	single nucleotide variant	NM_001079866.2(BCS1L):c.885G>A (p.Val295=)	not provided [RCV001425381]	likely benign	2	218662675	218662675	Human		name
127336089	CV1112284	single nucleotide variant	NM_001079866.2(BCS1L):c.435G>A (p.Lys145=)	not provided [RCV001474756]	likely benign	2	218661520	218661520	Human		name
127319208	CV1112285	single nucleotide variant	NM_001079866.2(BCS1L):c.498C>A (p.Thr166=)	not provided [RCV001466479]	likely benign	2	218661796	218661796	Human		name
127326226	CV1112286	single nucleotide variant	NM_001079866.2(BCS1L):c.679C>T (p.Leu227=)	not provided [RCV001468698]	likely benign	2	218662220	218662220	Human		name
127288437	CV1112287	single nucleotide variant	NM_001079866.2(BCS1L):c.705A>G (p.Gly235=)	not provided [RCV001450479]	likely benign	2	218662246	218662246	Human		name
127299106	CV1112288	single nucleotide variant	NM_001079866.2(BCS1L):c.825G>A (p.Gln275=)	not provided [RCV001453517]	likely benign	2	218662615	218662615	Human		name
127335642	CV1112289	single nucleotide variant	NM_001079866.2(BCS1L):c.837A>C (p.Val279=)	not provided [RCV001474410]	likely benign	2	218662627	218662627	Human		name
127315532	CV1133189	single nucleotide variant	NM_001079866.2(BCS1L):c.498C>G (p.Thr166=)	not provided [RCV001482548]	likely benign	2	218661796	218661796	Human		name
127326492	CV1133190	single nucleotide variant	NM_001079866.2(BCS1L):c.534C>G (p.Pro178=)	not provided [RCV001486041]	likely benign	2	218661832	218661832	Human		name
127337697	CV1133192	single nucleotide variant	NM_001079866.2(BCS1L):c.666C>T (p.Tyr222=)	not provided [RCV001492988]	likely benign	2	218662207	218662207	Human		name
127331886	CV1133193	single nucleotide variant	NM_001079866.2(BCS1L):c.789T>C (p.Asp263=)	not provided [RCV001489114]	likely benign	2	218662579	218662579	Human		name
127326657	CV1133195	single nucleotide variant	NM_001079866.2(BCS1L):c.921C>T (p.Leu307=)	not provided [RCV001506376]	likely benign	2	218662914	218662914	Human		name
127325783	CV1133196	single nucleotide variant	NM_001079866.2(BCS1L):c.990C>G (p.Thr330=)	not provided [RCV001506103]	likely benign	2	218662983	218662983	Human		name
151727530	CV1241959	single nucleotide variant	NM_001079866.2(BCS1L):c.441C>T (p.Phe147=)	GRACILE syndrome [RCV001844327]\|Mitochondrial complex III deficiency nuclear type 1 [RCV004813180]	pathogenic\|likely pathogenic	2	218661526	218661526	Human	2	name
151712741	CV1371010	single nucleotide variant	NM_001079866.2(BCS1L):c.345A>G (p.Val115=)	not provided [RCV001908336]	likely benign	2	218661430	218661430	Human		name
8690256	CV140206	single nucleotide variant	NM_001079866.2(BCS1L):c.996C>T (p.Asn332=)	GRACILE syndrome [RCV000401829]\|Leigh syndrome [RCV000310745]\|Mitochondrial complex III deficiency nuclear type 1 [RCV000363248]\|Pili torti-deafness syndrome [RCV001527149]\|not provided [RCV000677001]\|not specified [RCV000123833]	benign\|likely benign	2	218662989	218662989	Human	4	name
152028013	CV1521186	single nucleotide variant	NM_001079866.2(BCS1L):c.450C>T (p.Ile150=)	not provided [RCV002085320]	likely benign	2	218661535	218661535	Human		name
152043281	CV1522378	single nucleotide variant	NM_001079866.2(BCS1L):c.804C>T (p.His268=)	not provided [RCV002088239]	likely benign	2	218662594	218662594	Human		name
152063154	CV1524661	single nucleotide variant	NM_001079866.2(BCS1L):c.387G>A (p.Gly129=)	not provided [RCV002147028]	likely benign	2	218661472	218661472	Human		name
152051019	CV1527868	single nucleotide variant	NM_001079866.2(BCS1L):c.420G>C (p.Leu140=)	not provided [RCV002089161]	likely benign	2	218661505	218661505	Human		name
152127387	CV1530269	single nucleotide variant	NM_001079866.2(BCS1L):c.936G>C (p.Leu312=)	not provided [RCV002198862]	likely benign	2	218662929	218662929	Human		name
152037318	CV1530526	single nucleotide variant	NM_001079866.2(BCS1L):c.819C>T (p.Ala273=)	not provided [RCV002107210]	likely benign	2	218662609	218662609	Human		name
152090431	CV1581803	single nucleotide variant	NM_001079866.2(BCS1L):c.840C>T (p.Leu280=)	not provided [RCV002077634]	likely benign	2	218662630	218662630	Human		name
152144215	CV1582484	single nucleotide variant	NM_001079866.2(BCS1L):c.432A>C (p.Arg144=)	not provided [RCV002200985]	likely benign	2	218661517	218661517	Human		name
152057106	CV1588400	single nucleotide variant	NM_001079866.2(BCS1L):c.561A>G (p.Pro187=)	not provided [RCV002190098]	likely benign	2	218661859	218661859	Human		name
152069886	CV1589272	single nucleotide variant	NM_001079866.2(BCS1L):c.828G>A (p.Gln276=)	not provided [RCV002209839]	likely benign	2	218662618	218662618	Human		name
152066786	CV1601759	single nucleotide variant	NM_001079866.2(BCS1L):c.594T>A (p.Ala198=)	not provided [RCV002168770]	likely benign	2	218661892	218661892	Human		name
152036448	CV1609805	single nucleotide variant	NM_001079866.2(BCS1L):c.549C>T (p.Arg183=)	not provided [RCV002165021]	likely benign	2	218661847	218661847	Human		name
152111504	CV1618414	single nucleotide variant	NM_001079866.2(BCS1L):c.333A>G (p.Lys111=)	not provided [RCV002080313]	likely benign	2	218661418	218661418	Human		name
152104106	CV1622549	single nucleotide variant	NM_001079866.2(BCS1L):c.807G>A (p.Leu269=)	not provided [RCV002214569]	likely benign	2	218662597	218662597	Human		name
152096547	CV1627927	single nucleotide variant	NM_001079866.2(BCS1L):c.432A>G (p.Arg144=)	not provided [RCV002194996]	likely benign	2	218661517	218661517	Human		name
152034030	CV1634717	single nucleotide variant	NM_001079866.2(BCS1L):c.366G>A (p.Gln122=)	not provided [RCV002086903]	likely benign	2	218661451	218661451	Human		name
152097595	CV1639693	single nucleotide variant	NM_001079866.2(BCS1L):c.939C>T (p.Leu313=)	not provided [RCV002078559]	likely benign	2	218662932	218662932	Human		name
152037145	CV1646287	single nucleotide variant	NM_001079866.2(BCS1L):c.741G>C (p.Leu247=)	not provided [RCV002205783]	likely benign	2	218662531	218662531	Human		name
156054116	CV1881976	single nucleotide variant	NM_001079866.2(BCS1L):c.414G>A (p.Thr138=)	not provided [RCV003078985]	likely benign	2	218661499	218661499	Human		name
156447448	CV1945401	single nucleotide variant	NM_001079866.2(BCS1L):c.894A>G (p.Pro298=)	not provided [RCV003118976]	likely benign	2	218662887	218662887	Human		name
156192846	CV1974609	single nucleotide variant	NM_001079866.2(BCS1L):c.83C>T (p.Ala28Val)	not provided [RCV002625475]	uncertain significance	2	218661070	218661070	Human		name
155905414	CV1975969	single nucleotide variant	NM_001079866.2(BCS1L):c.738A>G (p.Glu246=)	not provided [RCV002613643]	likely benign	2	218662528	218662528	Human		name
156326602	CV1982116	single nucleotide variant	NM_001079866.2(BCS1L):c.589C>T (p.Leu197=)	not provided [RCV002649591]	likely benign	2	218661887	218661887	Human		name
156101863	CV2011632	single nucleotide variant	NM_001079866.2(BCS1L):c.516G>A (p.Val172=)	not provided [RCV002695337]	likely benign	2	218661814	218661814	Human		name
155945862	CV2062197	deletion	NM_001079866.2(BCS1L):c.217del (p.Arg73fs)	not provided [RCV002815977]	pathogenic	2	218661202	218661202	Human		name
155935635	CV2064503	single nucleotide variant	NM_001079866.2(BCS1L):c.966C>A (p.Thr322=)	not provided [RCV002861417]	likely benign	2	218662959	218662959	Human		name
156315501	CV2070988	single nucleotide variant	NM_001079866.2(BCS1L):c.630T>C (p.Asp210=)	not provided [RCV002834375]	likely benign	2	218661928	218661928	Human		name
156192805	CV2082977	single nucleotide variant	NM_001079866.2(BCS1L):c.699T>C (p.Gly233=)	not provided [RCV002852193]	likely benign	2	218662240	218662240	Human		name
156241111	CV2085981	single nucleotide variant	NM_001079866.2(BCS1L):c.681G>A (p.Leu227=)	not provided [RCV002876598]	likely benign	2	218662222	218662222	Human		name
156128747	CV2125037	single nucleotide variant	NM_001079866.2(BCS1L):c.693C>T (p.Pro231=)	not provided [RCV002953796]	likely benign	2	218662234	218662234	Human		name
156048179	CV2144377	single nucleotide variant	NM_001079866.2(BCS1L):c.469C>T (p.Leu157=)	not provided [RCV002999781]	likely benign	2	218661767	218661767	Human		name
156001427	CV2145856	single nucleotide variant	NM_001079866.2(BCS1L):c.915T>G (p.Gly305=)	not provided [RCV002997040]	likely benign	2	218662908	218662908	Human		name
155982902	CV2153602	single nucleotide variant	NM_001079866.2(BCS1L):c.747C>T (p.His249=)	not provided [RCV003016463]	likely benign	2	218662537	218662537	Human		name
156249138	CV2156212	single nucleotide variant	NM_001079866.2(BCS1L):c.984C>T (p.Phe328=)	not provided [RCV003008381]	likely benign	2	218662977	218662977	Human		name
156282825	CV2175799	single nucleotide variant	NM_001079866.2(BCS1L):c.945C>A (p.Ala315=)	not provided [RCV003027376]	likely benign	2	218662938	218662938	Human		name
156100087	CV2179987	single nucleotide variant	NM_001079866.2(BCS1L):c.993C>T (p.Thr331=)	not provided [RCV003054692]	likely benign	2	218662986	218662986	Human		name
156231313	CV2264372	single nucleotide variant	NM_001079866.2(BCS1L):c.95C>T (p.Ala32Val)	Inborn genetic diseases [RCV002853654]	uncertain significance	2	218661082	218661082	Human	1	name
11638620	CV267164	single nucleotide variant	NM_001079866.2(BCS1L):c.349C>A (p.Arg117=)	not provided [RCV000306913]	conflicting interpretations of pathogenicity\|uncertain significance	2	218661434	218661434	Human		name
401917483	CV2818930	single nucleotide variant	NM_001079866.2(BCS1L):c.942T>C (p.Asn314=)	not provided [RCV003429543]	likely benign	2	218662935	218662935	Human		name
401949564	CV2833885	duplication	NM_001079866.2(BCS1L):c.268dup (p.Arg90fs)	Pili torti-deafness syndrome [RCV003474349]\|Pili torti-deafness syndrome [RCV005021991]	likely pathogenic	2	218661253	218661254	Human	1	name
402515224	CV2855686	single nucleotide variant	NM_001079866.2(BCS1L):c.726C>T (p.Ala242=)	not provided [RCV003547346]	likely benign	2	218662516	218662516	Human		name
11585277	CV287614	single nucleotide variant	NM_001079866.2(BCS1L):c.768C>G (p.Leu256=)	GRACILE syndrome [RCV000394839]\|Leigh syndrome [RCV000338686]\|Mitochondrial complex III deficiency nuclear type 1 [RCV000279975]\|not provided [RCV000927961]	likely benign\|uncertain significance	2	218662558	218662558	Human	3	name
11589573	CV287850	single nucleotide variant	NM_001079866.2(BCS1L):c.822G>A (p.Pro274=)	BCS1L-related disorder [RCV004732851]\|GRACILE syndrome [RCV000401551]\|Leigh syndrome [RCV000311482]\|Mitochondrial complex III deficiency nuclear type 1 [RCV000351273]\|not provided [RCV000913045]\|not specified [RCV000426045]	likely benign\|uncertain significance	2	218662612	218662612	Human	3	name , trait , alternate_id
405113342	CV2900742	single nucleotide variant	NM_001079866.2(BCS1L):c.648T>A (p.Thr216=)	not provided [RCV003558188]	likely benign	2	218661946	218661946	Human		name
405170910	CV2911900	single nucleotide variant	NM_001079866.2(BCS1L):c.783C>T (p.Leu261=)	not provided [RCV003563048]	likely benign	2	218662573	218662573	Human		name
405206833	CV2913648	single nucleotide variant	NM_001079866.2(BCS1L):c.360G>A (p.Glu120=)	not provided [RCV003566613]	likely benign	2	218661445	218661445	Human		name
405193769	CV2925476	single nucleotide variant	NM_001079866.2(BCS1L):c.411C>T (p.Phe137=)	not provided [RCV003565088]	likely benign	2	218661496	218661496	Human		name
402499380	CV2926585	single nucleotide variant	NM_001079866.2(BCS1L):c.774C>T (p.Asp258=)	not provided [RCV003573752]	likely benign	2	218662564	218662564	Human		name
405007632	CV2929551	single nucleotide variant	NM_001079866.2(BCS1L):c.456G>A (p.Glu152=)	not provided [RCV003576355]	likely benign	2	218661541	218661541	Human		name
402468877	CV2930799	single nucleotide variant	NM_001079866.2(BCS1L):c.930T>C (p.Ser310=)	not provided [RCV003570004]	likely benign	2	218662923	218662923	Human		name
405066120	CV2937261	single nucleotide variant	NM_001079866.2(BCS1L):c.475T>C (p.Leu159=)	not provided [RCV003663696]	likely benign	2	218661773	218661773	Human		name
405245211	CV2969037	single nucleotide variant	NM_001079866.2(BCS1L):c.777C>T (p.Ser259=)	not provided [RCV003685088]	likely benign	2	218662567	218662567	Human		name
405238558	CV2986865	single nucleotide variant	NM_001079866.2(BCS1L):c.318C>T (p.Ile106=)	not provided [RCV003683537]	likely benign	2	218661305	218661305	Human		name
405018856	CV2991991	single nucleotide variant	NM_001079866.2(BCS1L):c.636C>T (p.Pro212=)	not provided [RCV003694647]	likely benign	2	218661934	218661934	Human		name
405120349	CV2994008	single nucleotide variant	NM_001079866.2(BCS1L):c.387G>T (p.Gly129=)	not provided [RCV003723820]	likely benign	2	218661472	218661472	Human		name
402495264	CV3004884	single nucleotide variant	NM_001079866.2(BCS1L):c.420G>A (p.Leu140=)	not provided [RCV003687850]	likely benign	2	218661505	218661505	Human		name
405042701	CV3007689	single nucleotide variant	NM_001079866.2(BCS1L):c.549C>G (p.Arg183=)	not provided [RCV003696446]	likely benign	2	218661847	218661847	Human		name
405129512	CV3010783	single nucleotide variant	NM_001079866.2(BCS1L):c.555G>A (p.Arg185=)	not provided [RCV003701545]	likely benign	2	218661853	218661853	Human		name
402497577	CV3015754	single nucleotide variant	NM_001079866.2(BCS1L):c.966C>G (p.Thr322=)	not provided [RCV003688164]	likely benign	2	218662959	218662959	Human		name
405217796	CV3034763	single nucleotide variant	NM_001079866.2(BCS1L):c.699T>G (p.Gly233=)	not provided [RCV003709548]	likely benign	2	218662240	218662240	Human		name
405226945	CV3039523	single nucleotide variant	NM_001079866.2(BCS1L):c.378G>A (p.Leu126=)	not provided [RCV003710868]	likely benign	2	218661463	218661463	Human		name
405190514	CV3118019	single nucleotide variant	NM_001079866.2(BCS1L):c.741G>A (p.Leu247=)	not provided [RCV003820929]	likely benign	2	218662531	218662531	Human		name
405001048	CV3120335	single nucleotide variant	NM_001079866.2(BCS1L):c.816G>A (p.Val272=)	not provided [RCV003828125]	likely benign	2	218662606	218662606	Human		name
405207461	CV3145564	single nucleotide variant	NM_001079866.2(BCS1L):c.846G>A (p.Glu282=)	not provided [RCV003845294]	likely benign	2	218662636	218662636	Human		name
402505886	CV3181606	single nucleotide variant	NM_001079866.2(BCS1L):c.690G>A (p.Gly230=)	not provided [RCV003878440]	likely benign	2	218662231	218662231	Human		name
402506502	CV3181670	single nucleotide variant	NM_001079866.2(BCS1L):c.753C>T (p.Ile251=)	not provided [RCV003878504]	likely benign	2	218662543	218662543	Human		name
596945306	CV3547820	single nucleotide variant	NM_001079866.2(BCS1L):c.98G>A (p.Arg33Gln)	Pili torti-deafness syndrome [RCV005023723]\|not provided [RCV004809151]	uncertain significance	2	218661085	218661085	Human	1	name
12846926	CV366368	single nucleotide variant	NM_001079866.2(BCS1L):c.702C>T (p.Cys234=)	Pili torti-deafness syndrome [RCV002480283]\|not provided [RCV000970435]\|not specified [RCV000442583]	likely benign	2	218662243	218662243	Human	1	name
12841922	CV366428	single nucleotide variant	NM_001079866.2(BCS1L):c.999C>T (p.His333=)	not provided [RCV000930926]\|not specified [RCV000433451]	likely benign	2	218662992	218662992	Human		name
12844608	CV366991	single nucleotide variant	NM_001079866.2(BCS1L):c.771G>A (p.Thr257=)	BCS1L-related disorder [RCV004539845]\|GRACILE syndrome [RCV001138378]\|Leigh syndrome [RCV001138380]\|Mitochondrial complex III deficiency nuclear type 1 [RCV001138379]\|not provided [RCV002521706]\|not specified [RCV000438295]	likely benign\|uncertain significance	2	218662561	218662561	Human	3	name , trait , alternate_id
597763175	CV3710216	single nucleotide variant	NM_001079866.2(BCS1L):c.573G>T (p.Val191=)	Pili torti-deafness syndrome [RCV005018638]	uncertain significance	2	218661871	218661871	Human	1	name
597941902	CV3769289	single nucleotide variant	NM_001079866.2(BCS1L):c.553C>A (p.Arg185=)	not provided [RCV005118784]	likely benign	2	218661851	218661851	Human		name
597831719	CV3830715	single nucleotide variant	NM_001079866.2(BCS1L):c.855T>C (p.Asp285=)	not provided [RCV005170113]	likely benign	2	218662645	218662645	Human		name
598127105	CV3888018	single nucleotide variant	NM_001079866.2(BCS1L):c.97C>T (p.Arg33Trp)	not provided [RCV005242704]	uncertain significance	2	218661084	218661084	Human		name
14703215	CV654242	single nucleotide variant	NM_001079866.2(BCS1L):c.810G>A (p.Leu270=)	not provided [RCV001481500]\|not specified [RCV000825117]	likely benign	2	218662600	218662600	Human		name
15116606	CV733165	single nucleotide variant	NM_001079866.2(BCS1L):c.645C>T (p.Tyr215=)	not provided [RCV000895231]	likely benign	2	218661943	218661943	Human		name
15123525	CV747291	single nucleotide variant	NM_001079866.2(BCS1L):c.303T>G (p.Pro101=)	GRACILE syndrome [RCV001274428]\|not provided [RCV000918838]	likely benign\|uncertain significance	2	218661290	218661290	Human	1	name
15160644	CV747292	single nucleotide variant	NM_001079866.2(BCS1L):c.808C>T (p.Leu270=)	not provided [RCV000925525]	likely benign	2	218662598	218662598	Human		name
15176229	CV762921	single nucleotide variant	NM_001079866.2(BCS1L):c.465A>G (p.Arg155=)	not provided [RCV000928870]	likely benign	2	218661763	218661763	Human		name
15183793	CV762922	single nucleotide variant	NM_001079866.2(BCS1L):c.498C>T (p.Thr166=)	not provided [RCV000930667]	likely benign	2	218661796	218661796	Human		name
15138961	CV762923	single nucleotide variant	NM_001079866.2(BCS1L):c.577C>T (p.Leu193=)	not provided [RCV000943479]	likely benign\|conflicting interpretations of pathogenicity	2	218661875	218661875	Human		name
15188622	CV762924	single nucleotide variant	NM_001079866.2(BCS1L):c.612C>T (p.Asp204=)	GRACILE syndrome [RCV001274430]\|not provided [RCV000932002]	likely benign	2	218661910	218661910	Human	1	name
15129333	CV762925	single nucleotide variant	NM_001079866.2(BCS1L):c.627C>T (p.Ile209=)	GRACILE syndrome [RCV001274431]\|Pili torti-deafness syndrome [RCV002489265]\|not provided [RCV000941864]	likely benign\|uncertain significance	2	218661925	218661925	Human	2	name
15148618	CV762926	single nucleotide variant	NM_001079866.2(BCS1L):c.912A>T (p.Leu304=)	not provided [RCV000945150]	likely benign	2	218662905	218662905	Human		name
15189842	CV762927	single nucleotide variant	NM_001079866.2(BCS1L):c.966C>T (p.Thr322=)	GRACILE syndrome [RCV001276431]\|not provided [RCV000932355]	likely benign	2	218662959	218662959	Human	1	name
15111369	CV781173	single nucleotide variant	NM_001079866.2(BCS1L):c.348A>G (p.Glu116=)	GRACILE syndrome [RCV001274429]\|Pili torti-deafness syndrome [RCV002503119]\|not provided [RCV000977621]	likely benign\|uncertain significance	2	218661433	218661433	Human	2	name
15117261	CV781174	single nucleotide variant	NM_001079866.2(BCS1L):c.753C>A (p.Ile251=)	not provided [RCV000978732]	likely benign	2	218662543	218662543	Human		name
15103017	CV781175	single nucleotide variant	NM_001079866.2(BCS1L):c.813C>T (p.Ser271=)	BCS1L-related disorder [RCV004543642]\|not provided [RCV000975929]	likely benign	2	218662603	218662603	Human	1	name , trait , alternate_id
126739539	CV1015990	deletion	NM_001079866.2(BCS1L):c.696del (p.Gly233fs)	Inborn genetic diseases [RCV002546308]\|Pili torti-deafness syndrome [RCV002486327]\|Pili torti-deafness syndrome [RCV003473864]\|not provided [RCV001383446]	pathogenic\|likely pathogenic	2	218662237	218662237	Human	2	name
127264220	CV1090758	single nucleotide variant	NM_001079866.2(BCS1L):c.1074C>T (p.His358=)	not provided [RCV001439578]	likely benign	2	218663200	218663200	Human		name
127273261	CV1090759	single nucleotide variant	NM_001079866.2(BCS1L):c.1185G>A (p.Gln395=)	not provided [RCV001431586]	likely benign	2	218663311	218663311	Human		name
127234365	CV1108864	single nucleotide variant	NM_001079866.2(BCS1L):c.193A>C (p.Ser65Arg)	GRACILE syndrome [RCV001832578]\|Pili torti-deafness syndrome [RCV002476767]\|not provided [RCV005094588]\|not specified [RCV001449705]	uncertain significance	2	218661180	218661180	Human	2	name
127289282	CV1133197	single nucleotide variant	NM_001079866.2(BCS1L):c.1056C>T (p.Tyr352=)	not provided [RCV001495579]	likely benign	2	218663182	218663182	Human		name
150529819	CV1293216	single nucleotide variant	NM_001079866.2(BCS1L):c.206G>A (p.Arg69His)	Pili torti-deafness syndrome [RCV002496067]\|not provided [RCV001756435]	uncertain significance	2	218661193	218661193	Human	1	name
151857162	CV1347989	single nucleotide variant	NM_001079866.2(BCS1L):c.233G>T (p.Ser78Ile)	not provided [RCV001979667]	likely pathogenic	2	218661220	218661220	Human		name
151789452	CV1394236	single nucleotide variant	NM_001079866.2(BCS1L):c.1191G>A (p.Gln397=)	not provided [RCV002046959]	likely benign	2	218663317	218663317	Human		name
151797491	CV1401185	single nucleotide variant	NM_001079866.2(BCS1L):c.101A>G (p.Lys34Arg)	not provided [RCV002011262]	uncertain significance	2	218661088	218661088	Human		name
8690258	CV140208	single nucleotide variant	NM_001079866.2(BCS1L):c.1017T>C (p.Pro339=)	GRACILE syndrome [RCV000323471]\|Leigh syndrome [RCV000361877]\|Mitochondrial complex III deficiency nuclear type 1 [RCV000270977]\|Pili torti-deafness syndrome [RCV001527150]\|not provided [RCV000677002]\|not specified [RCV000123835]	benign\|likely benign	2	218663143	218663143	Human	4	name
151746839	CV1428378	single nucleotide variant	NM_001079866.2(BCS1L):c.1156C>A (p.Arg386=)	not provided [RCV001927069]	likely benign\|uncertain significance	2	218663282	218663282	Human		name
151713199	CV1428701	single nucleotide variant	NM_001079866.2(BCS1L):c.253C>T (p.Gln85Ter)	not provided [RCV002002397]	pathogenic	2	218661240	218661240	Human		name
151887453	CV1464387	single nucleotide variant	NM_001079866.2(BCS1L):c.238G>T (p.Glu80Ter)	not provided [RCV001962981]	pathogenic	2	218661225	218661225	Human		name
152077946	CV1561045	single nucleotide variant	NM_001079866.2(BCS1L):c.1218C>T (p.Asp406=)	not provided [RCV002112362]	likely benign	2	218663344	218663344	Human		name
152034824	CV1584673	single nucleotide variant	NM_001079866.2(BCS1L):c.1140T>C (p.Phe380=)	not provided [RCV002125160]	likely benign	2	218663266	218663266	Human		name
152059633	CV1596086	single nucleotide variant	NM_001079866.2(BCS1L):c.1197C>T (p.Tyr399=)	not provided [RCV002090097]	likely benign	2	218663323	218663323	Human		name
152147820	CV1623652	single nucleotide variant	NM_001079866.2(BCS1L):c.1188G>A (p.Val396=)	not provided [RCV002157704]	likely benign	2	218663314	218663314	Human		name
152054290	CV1633029	single nucleotide variant	NM_001079866.2(BCS1L):c.1149T>C (p.His383=)	not provided [RCV002127585]	likely benign	2	218663275	218663275	Human		name
155799763	CV1862619	single nucleotide variant	NM_001079866.2(BCS1L):c.170A>G (p.Asp57Gly)	Mitochondrial complex III deficiency nuclear type 1 [RCV002472026]\|Pili torti-deafness syndrome [RCV005019215]	likely pathogenic\|uncertain significance	2	218661157	218661157	Human	2	name
156173099	CV1867165	single nucleotide variant	NM_001079866.2(BCS1L):c.130C>T (p.Arg44Trp)	not provided [RCV002508718]	uncertain significance	2	218661117	218661117	Human		name
156330296	CV1884325	single nucleotide variant	NM_001079866.2(BCS1L):c.218G>A (p.Arg73His)	not provided [RCV003089752]	uncertain significance	2	218661205	218661205	Human		name
156124704	CV2012304	single nucleotide variant	NM_001079866.2(BCS1L):c.1143A>G (p.Ala381=)	not provided [RCV002696174]	likely benign	2	218663269	218663269	Human		name
156313619	CV2017821	single nucleotide variant	NM_001079866.2(BCS1L):c.295C>T (p.Pro99Ser)	not provided [RCV002671772]\|not specified [RCV004690314]	likely pathogenic\|uncertain significance	2	218661282	218661282	Human		name
156021734	CV2019399	single nucleotide variant	NM_001079866.2(BCS1L):c.1125C>T (p.Ser375=)	not provided [RCV002691034]	likely benign	2	218663251	218663251	Human		name
156132344	CV2036624	single nucleotide variant	NM_001079866.2(BCS1L):c.186G>C (p.Trp62Cys)	not provided [RCV002786219]	uncertain significance	2	218661173	218661173	Human		name
156079303	CV2053760	single nucleotide variant	NM_001079866.2(BCS1L):c.1167C>T (p.Asn389=)	not provided [RCV002823801]	likely benign	2	218663293	218663293	Human		name
156313180	CV2079063	single nucleotide variant	NM_001079866.2(BCS1L):c.1050G>A (p.Lys350=)	not provided [RCV002898836]	likely benign	2	218663176	218663176	Human		name
156226636	CV2081134	single nucleotide variant	NM_001079866.2(BCS1L):c.1128A>G (p.Leu376=)	not provided [RCV002853413]	likely benign	2	218663254	218663254	Human		name
156081313	CV2083695	single nucleotide variant	NM_001079866.2(BCS1L):c.1182C>A (p.Ala394=)	not provided [RCV002847394]	likely benign	2	218663308	218663308	Human		name
155914811	CV2091660	single nucleotide variant	NM_001079866.2(BCS1L):c.217C>G (p.Arg73Gly)	not provided [RCV002903015]	uncertain significance	2	218661204	218661204	Human		name
10409822	CV210769	single nucleotide variant	NM_001079866.2(BCS1L):c.142A>G (p.Met48Val)	GRACILE syndrome [RCV000987031]\|not provided [RCV001853169]\|not specified [RCV000196925]	likely pathogenic\|benign\|likely benign	2	218661129	218661129	Human	1	name
10409892	CV210770	single nucleotide variant	NM_001079866.2(BCS1L):c.205C>T (p.Arg69Cys)	GRACILE syndrome [RCV000675122]\|Inborn genetic diseases [RCV000623904]\|Mitochondrial complex III deficiency nuclear type 1 [RCV000415034]\|Pili torti-deafness syndrome [RCV001810436]\|Pili torti-deafness syndrome [RCV003474948]\|not provided [RCV000197059]	pathogenic\|likely pathogenic\|uncertain significance\|no classifications from unflagged records	2	218661192	218661192	Human	4	name
10410343	CV210771	single nucleotide variant	NM_001079866.2(BCS1L):c.269G>A (p.Arg90His)	Mitochondrial complex III deficiency nuclear type 1 [RCV000671152]\|not provided [RCV000197987]	likely pathogenic\|uncertain significance	2	218661256	218661256	Human	1	name
8597063	CV21203	single nucleotide variant	NM_001079866.2(BCS1L):c.296C>T (p.Pro99Leu)	GRACILE syndrome [RCV000665386]\|Mitochondrial complex III deficiency nuclear type 1 [RCV000006539]\|Pili torti-deafness syndrome [RCV003472985]\|not provided [RCV001062637]	pathogenic\|likely pathogenic	2	218661283	218661283	Human	3	name
8559148	CV21206	single nucleotide variant	NM_001079866.2(BCS1L):c.232A>G (p.Ser78Gly)	BCS1L-related disorder [RCV004732532]\|GRACILE syndrome [RCV000006542]\|Mitochondrial complex III deficiency nuclear type 1 [RCV000983982]\|Pili torti-deafness syndrome [RCV002476936]\|Pili torti-deafness syndrome [RCV003472987]\|not provided [RCV000519547]	pathogenic	2	218661219	218661219	Human	3	name , trait , alternate_id
8597065	CV21207	single nucleotide variant	NM_001079866.2(BCS1L):c.133C>T (p.Arg45Cys)	Mitochondrial complex III deficiency nuclear type 1 [RCV000006543]\|Pili torti-deafness syndrome [RCV003472988]\|Pili torti-deafness syndrome [RCV005025015]\|not provided [RCV001851700]	pathogenic\|likely pathogenic	2	218661120	218661120	Human	2	name
8559149	CV21208	single nucleotide variant	NM_001079866.2(BCS1L):c.166C>T (p.Arg56Ter)	BCS1L-related disorder [RCV000260660]\|GRACILE syndrome [RCV000576565]\|Mitochondrial complex III deficiency nuclear type 1 [RCV000006544]\|Pili torti-deafness syndrome [RCV000763069]\|Pili torti-deafness syndrome [RCV003472989]\|Pili torti-deafness syndrome [RCV0050 ... (more) 16249]\|not provided [RCV000195481]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	2	218661153	218661153	Human	3	name , trait , alternate_id
8559150	CV21211	single nucleotide variant	NM_001079866.2(BCS1L):c.103G>C (p.Gly35Arg)	Bjornstad syndrome with mild mitochondrial complex III deficiency [RCV000006548]	pathogenic	2	218661090	218661090	Human	1	name
8597068	CV21212	single nucleotide variant	NM_001079866.2(BCS1L):c.148A>G (p.Thr50Ala)	Mitochondrial complex III deficiency nuclear type 1 [RCV000006549]	pathogenic	2	218661135	218661135	Human	1	name
156302783	CV2146434	single nucleotide variant	NM_001079866.2(BCS1L):c.1041G>A (p.Val347=)	not provided [RCV003028174]	likely benign	2	218663167	218663167	Human		name
156275486	CV2187692	deletion	NM_001079866.2(BCS1L):c.695del (p.Pro232fs)	not provided [RCV003044603]	pathogenic	2	218662232	218662232	Human		name
11636390	CV268018	single nucleotide variant	NM_001079866.2(BCS1L):c.209A>G (p.His70Arg)	not provided [RCV000266879]	uncertain significance	2	218661196	218661196	Human		name
401739036	CV2738463	single nucleotide variant	NM_001079866.2(BCS1L):c.167G>A (p.Arg56Gln)	not specified [RCV003317855]	uncertain significance	2	218661154	218661154	Human		name
401949563	CV2833884	deletion	NM_001079866.2(BCS1L):c.492del (p.Lys165fs)	Pili torti-deafness syndrome [RCV003474348]	likely pathogenic	2	218661788	218661788	Human	1	name
401949493	CV2833889	deletion	NM_001079866.2(BCS1L):c.876del (p.Leu293fs)	Pili torti-deafness syndrome [RCV003474353]	likely pathogenic	2	218662666	218662666	Human	1	name
405174732	CV2863466	single nucleotide variant	NM_001079866.2(BCS1L):c.133C>G (p.Arg45Gly)	not provided [RCV003542635]	likely pathogenic	2	218661120	218661120	Human		name
402495066	CV2875054	single nucleotide variant	NM_001079866.2(BCS1L):c.1036C>A (p.Arg346=)	not provided [RCV003545312]	likely benign	2	218663162	218663162	Human		name
11651759	CV287613	single nucleotide variant	NM_001079866.2(BCS1L):c.112C>G (p.Leu38Val)	GRACILE syndrome [RCV000402322]\|Leigh syndrome [RCV000300923]\|Mitochondrial complex III deficiency nuclear type 1 [RCV000353398]	uncertain significance	2	218661099	218661099	Human	3	name
405093475	CV2878400	duplication	NM_001079866.2(BCS1L):c.434dup (p.Val146fs)	not provided [RCV003550072]	pathogenic	2	218661516	218661517	Human		name
405218446	CV2907553	single nucleotide variant	NM_001079866.2(BCS1L):c.1047G>T (p.Leu349=)	not provided [RCV003568085]	likely benign	2	218663173	218663173	Human		name
402466539	CV2914823	single nucleotide variant	NM_001079866.2(BCS1L):c.1176T>C (p.Ser392=)	not provided [RCV003569473]	likely benign	2	218663302	218663302	Human		name
402466569	CV2914842	single nucleotide variant	NM_001079866.2(BCS1L):c.1143A>C (p.Ala381=)	not provided [RCV003569480]	likely benign	2	218663269	218663269	Human		name
405244536	CV2968269	single nucleotide variant	NM_001079866.2(BCS1L):c.1224A>G (p.Val408=)	not provided [RCV003684872]	likely benign	2	218663350	218663350	Human		name
405205416	CV3144233	single nucleotide variant	NM_001079866.2(BCS1L):c.1236C>T (p.His412=)	not provided [RCV003845023]	likely benign	2	218663362	218663362	Human		name
405234246	CV3155478	single nucleotide variant	NM_001079866.2(BCS1L):c.1113G>A (p.Gly371=)	not provided [RCV003853456]	likely benign	2	218663239	218663239	Human		name
407472358	CV3427444	single nucleotide variant	NM_001079866.2(BCS1L):c.136C>T (p.His46Tyr)	Inborn genetic diseases [RCV004600106]	uncertain significance	2	218661123	218661123	Human	1	name
596931221	CV3531554	single nucleotide variant	NM_001079866.2(BCS1L):c.280A>G (p.Lys94Glu)	not provided [RCV004781116]	uncertain significance	2	218661267	218661267	Human		name
12738636	CV357236	single nucleotide variant	NM_001079866.2(BCS1L):c.245C>A (p.Ser82Ter)	GRACILE syndrome [RCV000410534]\|Mitochondrial complex III deficiency nuclear type 1 [RCV001334242]\|Pili torti-deafness syndrome [RCV003475959]\|Pili torti-deafness syndrome [RCV004796164]\|not provided [RCV001218287]	pathogenic\|likely pathogenic	2	218661232	218661232	Human	3	name
12739273	CV357238	deletion	NM_001079866.2(BCS1L):c.418del (p.Leu140fs)	GRACILE syndrome [RCV000409243]\|Inborn genetic diseases [RCV001266390]\|not provided [RCV001865274]	pathogenic\|likely pathogenic	2	218661501	218661501	Human	2	name
12739746	CV357241	duplication	NM_001079866.2(BCS1L):c.607dup (p.Arg203fs)	GRACILE syndrome [RCV000410319]\|Mitochondrial complex III deficiency nuclear type 1 [RCV004567874]\|not provided [RCV001043703]	pathogenic\|likely pathogenic	2	218661904	218661905	Human	2	name
12740550	CV357244	duplication	NM_001079866.2(BCS1L):c.973dup (p.Arg325fs)	GRACILE syndrome [RCV000412303]	likely pathogenic	2	218662963	218662964	Human	1	name
597636420	CV3639847	single nucleotide variant	NM_001079866.2(BCS1L):c.104G>T (p.Gly35Val)	Inborn genetic diseases [RCV004969889]	uncertain significance	2	218661091	218661091	Human	1	name
597636423	CV3639848	single nucleotide variant	NM_001079866.2(BCS1L):c.176G>A (p.Ser59Asn)	Inborn genetic diseases [RCV004969890]	uncertain significance	2	218661163	218661163	Human	1	name
597636432	CV3639850	single nucleotide variant	NM_001079866.2(BCS1L):c.295C>G (p.Pro99Ala)	Inborn genetic diseases [RCV004969892]\|not provided [RCV005110032]	likely pathogenic\|uncertain significance	2	218661282	218661282	Human	1	name
597763200	CV3706093	single nucleotide variant	NM_001079866.2(BCS1L):c.1032G>A (p.Pro344=)	Pili torti-deafness syndrome [RCV005018642]	uncertain significance	2	218663158	218663158	Human	1	name
597763129	CV3710201	single nucleotide variant	NM_001079866.2(BCS1L):c.111A>C (p.Gln37His)	Pili torti-deafness syndrome [RCV005018630]	uncertain significance	2	218661098	218661098	Human	1	name
597763134	CV3710202	single nucleotide variant	NM_001079866.2(BCS1L):c.115G>T (p.Gly39Cys)	Pili torti-deafness syndrome [RCV005018631]	uncertain significance	2	218661102	218661102	Human	1	name
597635017	CV3710203	single nucleotide variant	NM_001079866.2(BCS1L):c.124G>A (p.Ala42Thr)	Pili torti-deafness syndrome [RCV005024070]	uncertain significance	2	218661111	218661111	Human	1	name
597635025	CV3710204	single nucleotide variant	NM_001079866.2(BCS1L):c.129C>G (p.Phe43Leu)	Pili torti-deafness syndrome [RCV005024071]	uncertain significance	2	218661116	218661116	Human	1	name
597763141	CV3710205	single nucleotide variant	NM_001079866.2(BCS1L):c.178T>C (p.Tyr60His)	Pili torti-deafness syndrome [RCV005018632]	uncertain significance	2	218661165	218661165	Human	1	name
597763147	CV3710206	single nucleotide variant	NM_001079866.2(BCS1L):c.181G>A (p.Ala61Thr)	Pili torti-deafness syndrome [RCV005018633]	uncertain significance	2	218661168	218661168	Human	1	name
597763152	CV3710207	single nucleotide variant	NM_001079866.2(BCS1L):c.212G>A (p.Ser71Asn)	Pili torti-deafness syndrome [RCV005018634]	uncertain significance	2	218661199	218661199	Human	1	name
597635031	CV3710208	single nucleotide variant	NM_001079866.2(BCS1L):c.259G>A (p.Glu87Lys)	Pili torti-deafness syndrome [RCV005024072]	uncertain significance	2	218661246	218661246	Human	1	name
597763158	CV3710209	deletion	NM_001079866.2(BCS1L):c.350del (p.Arg117fs)	Pili torti-deafness syndrome [RCV005018635]	likely pathogenic	2	218661435	218661435	Human	1	name
597933596	CV3742818	single nucleotide variant	NM_001079866.2(BCS1L):c.180T>G (p.Tyr60Ter)	not provided [RCV005076257]	pathogenic	2	218661167	218661167	Human		name
597948323	CV3759142	single nucleotide variant	NM_001079866.2(BCS1L):c.245C>T (p.Ser82Leu)	not provided [RCV005078939]	uncertain significance	2	218661232	218661232	Human		name
597948330	CV3771876	single nucleotide variant	NM_001079866.2(BCS1L):c.1122T>C (p.Pro374=)	not provided [RCV005120402]	likely benign	2	218663248	218663248	Human		name
597860962	CV3880754	deletion	NM_001079866.2(BCS1L):c.899del (p.Lys300fs)	BCS1L-related disorder [RCV005229588]	pathogenic	2	218662890	218662890	Human	1	name , trait , alternate_id
598125913	CV3883348	single nucleotide variant	NM_001079866.2(BCS1L):c.185G>C (p.Trp62Ser)	Mitochondrial complex III deficiency nuclear type 1 [RCV005233219]	likely pathogenic	2	218661172	218661172	Human	1	name
598125915	CV3883349	single nucleotide variant	NM_001079866.2(BCS1L):c.198G>A (p.Trp66Ter)	GRACILE syndrome [RCV005233220]	likely pathogenic	2	218661185	218661185	Human	1	name
13530422	CV499531	single nucleotide variant	NM_001079866.2(BCS1L):c.1044C>T (p.Asp348=)	BCS1L-related disorder [RCV004530760]\|not provided [RCV000916658]	likely benign	2	218663170	218663170	Human	1	name , trait , alternate_id
13789618	CV541731	deletion	NM_001079866.2(BCS1L):c.472del (p.Ala158fs)	GRACILE syndrome [RCV000674598]	likely pathogenic	2	218661770	218661770	Human	1	name
13785315	CV541746	deletion	NM_001079866.2(BCS1L):c.821del (p.Pro274fs)	GRACILE syndrome [RCV000671907]\|Pili torti-deafness syndrome [RCV003472142]\|not provided [RCV001383886]	pathogenic\|likely pathogenic	2	218662608	218662608	Human	2	name
13789620	CV541805	deletion	NM_001079866.2(BCS1L):c.534del (p.Phe179fs)	GRACILE syndrome [RCV000674599]	likely pathogenic	2	218661830	218661830	Human	1	name
13783947	CV541815	deletion	NM_001079866.2(BCS1L):c.772del (p.Asp258fs)	GRACILE syndrome [RCV000670440]\|Pili torti-deafness syndrome [RCV005019138]\|not provided [RCV001855542]	pathogenic\|likely pathogenic	2	218662561	218662561	Human	2	name
13784259	CV541853	single nucleotide variant	NM_001079866.2(BCS1L):c.217C>T (p.Arg73Cys)	GRACILE syndrome [RCV000670706]\|Pili torti-deafness syndrome [RCV005357893]\|not provided [RCV001171821]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	2	218661204	218661204	Human	2	name
13783684	CV541894	single nucleotide variant	NM_001079866.2(BCS1L):c.134G>A (p.Arg45His)	Pili torti-deafness syndrome [RCV001810474]\|not provided [RCV001243753]	pathogenic\|likely pathogenic\|uncertain significance	2	218661121	218661121	Human	1	name
13787075	CV541899	duplication	NM_001079866.2(BCS1L):c.372dup (p.Asp125fs)	GRACILE syndrome [RCV000673264]\|Pili torti-deafness syndrome [RCV004568552]\|Pili torti-deafness syndrome [RCV005019155]\|not provided [RCV003768005]	pathogenic\|likely pathogenic	2	218661456	218661457	Human	2	name
14691368	CV613536	single nucleotide variant	NM_001079866.2(BCS1L):c.268C>T (p.Arg90Cys)	Intellectual disability [RCV000850204]\|Microcephaly [RCV001003574]\|Microcephaly [RCV001003575]\|Pili torti-deafness syndrome [RCV003472287]\|not provided [RCV001855960]	pathogenic\|likely pathogenic\|uncertain significance	2	218661255	218661255	Human	8	name
14693191	CV620061	deletion	NM_001079866.2(BCS1L):c.399del (p.Glu133fs)	GRACILE syndrome [RCV001825516]\|Pili torti-deafness syndrome [RCV003472307]\|Pili torti-deafness syndrome [RCV005021161]\|not provided [RCV000801063]	pathogenic\|likely pathogenic\|uncertain significance	2	218661483	218661483	Human	2	name
15133252	CV781176	single nucleotide variant	NM_001079866.2(BCS1L):c.1257G>A (p.Arg419=)	not provided [RCV000981524]	likely benign	2	218663383	218663383	Human		name
126737879	CV1000323	single nucleotide variant	NM_001079866.2(BCS1L):c.557G>A (p.Arg186Gln)	not provided [RCV001311986]	uncertain significance	2	218661855	218661855	Human		name
126736606	CV1019571	single nucleotide variant	NM_001079866.2(BCS1L):c.642G>A (p.Trp214Ter)	GRACILE syndrome [RCV005408841]\|Pili torti-deafness syndrome [RCV004570802]\|not provided [RCV001382742]	pathogenic\|likely pathogenic	2	218661940	218661940	Human	2	name
127248243	CV1059179	single nucleotide variant	NM_001079866.2(BCS1L):c.336G>A (p.Trp112Ter)	Pili torti-deafness syndrome [RCV004570953]\|Pili torti-deafness syndrome [RCV005023143]\|not provided [RCV001384869]	pathogenic\|likely pathogenic	2	218661421	218661421	Human	1	name
127258154	CV1059180	single nucleotide variant	NM_001079866.2(BCS1L):c.463C>T (p.Arg155Ter)	Pili torti-deafness syndrome [RCV003473973]\|not provided [RCV001386890]	pathogenic\|likely pathogenic	2	218661761	218661761	Human	1	name
127242777	CV1059182	single nucleotide variant	NM_001079866.2(BCS1L):c.917G>A (p.Arg306His)	Pili torti-deafness syndrome [RCV002499798]\|Pili torti-deafness syndrome [RCV003473948]\|not provided [RCV001383887]	pathogenic\|likely pathogenic	2	218662910	218662910	Human	1	name
150450696	CV1200366	deletion	NM_001079866.2(BCS1L):c.1220del (p.Pro407fs)	GRACILE syndrome [RCV001580642]\|Mitochondrial complex III deficiency nuclear type 1 [RCV001580641]\|Pili torti-deafness syndrome [RCV001580643]	uncertain significance	2	218663344	218663344	Human	3	name
150557314	CV1310696	single nucleotide variant	NM_001079866.2(BCS1L):c.925T>C (p.Phe309Leu)	Pili torti-deafness syndrome [RCV002478005]\|not provided [RCV001776430]	uncertain significance	2	218662918	218662918	Human	1	name
8591275	CV132021	single nucleotide variant	NM_001079866.2(BCS1L):c.901T>A (p.Tyr301Asn)	Pili torti-deafness syndrome [RCV000114392]	pathogenic	2	218662894	218662894	Human	1	name
151353326	CV1326415	single nucleotide variant	NM_001079866.2(BCS1L):c.973C>T (p.Arg325Cys)	not provided [RCV001816291]	uncertain significance	2	218662966	218662966	Human		name
151662581	CV1333198	single nucleotide variant	NM_001079866.2(BCS1L):c.712A>G (p.Ser238Gly)	Mitochondrial complex III deficiency nuclear type 1 [RCV001837431]	pathogenic\|likely pathogenic	2	218662253	218662253	Human	1	name
151868076	CV1338387	single nucleotide variant	NM_001079866.2(BCS1L):c.802C>A (p.His268Asn)	not provided [RCV001884784]	uncertain significance	2	218662592	218662592	Human		name
151849073	CV1346222	single nucleotide variant	NM_001079866.2(BCS1L):c.454G>C (p.Glu152Gln)	not provided [RCV001978683]	uncertain significance	2	218661539	218661539	Human		name
151781532	CV1369674	single nucleotide variant	NM_001079866.2(BCS1L):c.493A>T (p.Lys165Ter)	Pili torti-deafness syndrome [RCV003475165]\|Pili torti-deafness syndrome [RCV005023443]\|not provided [RCV001930487]	pathogenic\|likely pathogenic	2	218661791	218661791	Human	1	name
151779053	CV1380202	single nucleotide variant	NM_001079866.2(BCS1L):c.340C>T (p.Arg114Trp)	Pili torti-deafness syndrome [RCV002300634]\|Pili torti-deafness syndrome [RCV005016948]\|not provided [RCV001950896]	pathogenic\|likely pathogenic	2	218661425	218661425	Human	1	name
151787320	CV1393579	single nucleotide variant	NM_001079866.2(BCS1L):c.916C>T (p.Arg306Cys)	Mitochondrial complex III deficiency nuclear type 1 [RCV005361873]\|Pili torti-deafness syndrome [RCV002492132]\|Pili torti-deafness syndrome [RCV003475238]\|not provided [RCV001972684]	pathogenic\|likely pathogenic	2	218662909	218662909	Human	2	name
8690255	CV140205	single nucleotide variant	NM_001079866.2(BCS1L):c.628G>A (p.Asp210Asn)	GRACILE syndrome [RCV000324040]\|Leigh syndrome [RCV000281286]\|Mitochondrial complex III deficiency nuclear type 1 [RCV000376268]\|Pili torti-deafness syndrome [RCV001527285]\|not provided [RCV000677000]\|not specified [RCV000123832]	benign\|likely benign	2	218661926	218661926	Human	4	name
151757392	CV1414606	single nucleotide variant	NM_001079866.2(BCS1L):c.585G>C (p.Gln195His)	Pili torti-deafness syndrome [RCV002490047]\|not provided [RCV001894932]	uncertain significance	2	218661883	218661883	Human	1	name
151821677	CV1418570	single nucleotide variant	NM_001079866.2(BCS1L):c.671G>A (p.Arg224His)	not provided [RCV001954819]	uncertain significance	2	218662212	218662212	Human		name
151804687	CV1432406	single nucleotide variant	NM_001079866.2(BCS1L):c.551G>A (p.Arg184His)	not provided [RCV001991269]	likely pathogenic\|conflicting interpretations of pathogenicity	2	218661849	218661849	Human		name
151757818	CV1438796	single nucleotide variant	NM_001079866.2(BCS1L):c.478C>T (p.Gln160Ter)	GRACILE syndrome [RCV003155444]\|Pili torti-deafness syndrome [RCV003475210]\|not provided [RCV002007515]	pathogenic\|likely pathogenic	2	218661776	218661776	Human	2	name
151749118	CV1460402	single nucleotide variant	NM_001079866.2(BCS1L):c.409T>C (p.Phe137Leu)	Pili torti-deafness syndrome [RCV005014713]\|not provided [RCV001894144]	uncertain significance	2	218661494	218661494	Human	1	name
151740642	CV1475005	single nucleotide variant	NM_001079866.2(BCS1L):c.703G>C (p.Gly235Arg)	Pili torti-deafness syndrome [RCV005016914]\|not provided [RCV001968114]	pathogenic\|likely pathogenic	2	218662244	218662244	Human	1	name
151740300	CV1492418	single nucleotide variant	NM_001079866.2(BCS1L):c.903C>A (p.Tyr301Ter)	Pili torti-deafness syndrome [RCV003475114]\|not provided [RCV002042163]	pathogenic\|likely pathogenic	2	218662896	218662896	Human	1	name
153000550	CV1683132	single nucleotide variant	NM_001079866.2(BCS1L):c.392C>T (p.Pro131Leu)	See cases [RCV002253142]\|not provided [RCV003094128]	uncertain significance	2	218661477	218661477	Human		name
155645921	CV1709279	single nucleotide variant	NM_001079866.2(BCS1L):c.770C>T (p.Thr257Met)	Inborn genetic diseases [RCV004965862]\|not provided [RCV002292155]	uncertain significance	2	218662560	218662560	Human	1	name
155698070	CV1777292	single nucleotide variant	NM_001079866.2(BCS1L):c.586G>T (p.Gly196Cys)	not provided [RCV002295434]	uncertain significance	2	218661884	218661884	Human		name
155741270	CV1779908	deletion	NM_001079866.2(BCS1L):c.1186del (p.Val396fs)	GRACILE syndrome [RCV002302512]	likely pathogenic	2	218663311	218663311	Human	1	name
155729101	CV1782676	single nucleotide variant	NM_001079866.2(BCS1L):c.476T>A (p.Leu159Ter)	Pili torti-deafness syndrome [RCV002308208]	likely pathogenic	2	218661774	218661774	Human	1	name
155729505	CV1782818	single nucleotide variant	NM_001079866.2(BCS1L):c.702C>A (p.Cys234Ter)	Pili torti-deafness syndrome [RCV002308350]	likely pathogenic	2	218662243	218662243	Human	1	name
156396515	CV1870843	single nucleotide variant	NM_001079866.2(BCS1L):c.794G>A (p.Arg265Gln)	not provided [RCV003068659]	uncertain significance	2	218662584	218662584	Human		name
155955257	CV1876679	single nucleotide variant	NM_001079866.2(BCS1L):c.529C>T (p.Arg177Cys)	not provided [RCV003074377]	uncertain significance	2	218661827	218661827	Human		name
155961992	CV1884968	single nucleotide variant	NM_001079866.2(BCS1L):c.796C>T (p.Leu266Phe)	not provided [RCV003074732]	uncertain significance	2	218662586	218662586	Human		name
156044074	CV1887336	single nucleotide variant	NM_001079866.2(BCS1L):c.979G>A (p.Val327Met)	not provided [RCV003078633]	uncertain significance	2	218662972	218662972	Human		name
156188785	CV1915655	single nucleotide variant	NM_001079866.2(BCS1L):c.670C>T (p.Arg224Cys)	not provided [RCV002595304]	uncertain significance	2	218662211	218662211	Human		name
156414252	CV1915873	single nucleotide variant	NM_001079866.2(BCS1L):c.727C>G (p.Leu243Val)	not provided [RCV002588500]	uncertain significance	2	218662517	218662517	Human		name
156375961	CV1917605	single nucleotide variant	NM_001079866.2(BCS1L):c.793C>T (p.Arg265Ter)	Pili torti-deafness syndrome [RCV003475513]\|not provided [RCV002603583]	pathogenic\|likely pathogenic	2	218662583	218662583	Human	1	name
156449301	CV1944625	single nucleotide variant	NM_001079866.2(BCS1L):c.872G>A (p.Arg291Gln)	not provided [RCV003121419]	uncertain significance	2	218662662	218662662	Human		name
156322791	CV1992331	single nucleotide variant	NM_001079866.2(BCS1L):c.865C>A (p.Leu289Ile)	Pili torti-deafness syndrome [RCV005019297]\|not provided [RCV002649361]	uncertain significance	2	218662655	218662655	Human	1	name
156240003	CV2047400	single nucleotide variant	NM_001079866.2(BCS1L):c.466G>A (p.Glu156Lys)	not provided [RCV002805641]	uncertain significance	2	218661764	218661764	Human		name
156003557	CV2103481	single nucleotide variant	NM_001079866.2(BCS1L):c.326G>A (p.Arg109Gln)	Inborn genetic diseases [RCV003250610]\|not provided [RCV002908748]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	218661411	218661411	Human	1	name
10411233	CV210772	single nucleotide variant	NM_001079866.2(BCS1L):c.325C>T (p.Arg109Trp)	GRACILE syndrome [RCV003226245]\|Pili torti-deafness syndrome [RCV003474949]\|Pili torti-deafness syndrome [RCV005025315]\|not provided [RCV000199842]	pathogenic\|likely pathogenic\|uncertain significance	2	218661410	218661410	Human	2	name
10410800	CV210773	single nucleotide variant	NM_001079866.2(BCS1L):c.499G>A (p.Val167Met)	GRACILE syndrome [RCV001833143]\|Inborn genetic diseases [RCV004601126]\|Pili torti-deafness syndrome [RCV002492899]\|not provided [RCV000198924]	uncertain significance	2	218661797	218661797	Human	3	name
10411045	CV210774	single nucleotide variant	NM_001079866.2(BCS1L):c.504G>A (p.Met168Ile)	not specified [RCV000199437]	likely benign	2	218661802	218661802	Human		name
10409536	CV210775	single nucleotide variant	NM_001079866.2(BCS1L):c.553C>T (p.Arg185Trp)	not provided [RCV000196315]	likely pathogenic\|uncertain significance	2	218661851	218661851	Human		name
10410266	CV210776	single nucleotide variant	NM_001079866.2(BCS1L):c.554G>A (p.Arg185Gln)	Pili torti-deafness syndrome [RCV002479473]\|Pili torti-deafness syndrome [RCV004594611]\|not provided [RCV001950093]	likely pathogenic\|uncertain significance	2	218661852	218661852	Human	1	name
10411614	CV210777	single nucleotide variant	NM_001079866.2(BCS1L):c.613G>A (p.Val205Ile)	BCS1L-related disorder [RCV000714568]\|GRACILE syndrome [RCV001137963]\|Leigh syndrome [RCV001137962]\|Mitochondrial complex III deficiency nuclear type 1 [RCV001137961]\|not provided [RCV000949252]\|not specified [RCV000200623]	benign\|likely benign\|uncertain significance	2	218661911	218661911	Human	3	name , trait , alternate_id
10409366	CV210779	single nucleotide variant	NM_001079866.2(BCS1L):c.871C>T (p.Arg291Ter)	GRACILE syndrome [RCV000675151]\|Pili torti-deafness syndrome [RCV000586158]\|Pili torti-deafness syndrome [RCV005016551]\|not provided [RCV000195977]	pathogenic\|likely pathogenic\|uncertain significance	2	218662661	218662661	Human	2	name
10410096	CV210780	single nucleotide variant	NM_001079866.2(BCS1L):c.965C>G (p.Thr322Ser)	GRACILE syndrome [RCV001833144]\|Pili torti-deafness syndrome [RCV005016552]\|not provided [RCV000197482]	uncertain significance	2	218662958	218662958	Human	2	name
8559146	CV21202	single nucleotide variant	NM_001079866.2(BCS1L):c.830G>A (p.Ser277Asn)	Mitochondrial complex III deficiency nuclear type 1 [RCV000006538]	pathogenic	2	218662620	218662620	Human	1	name
8597064	CV21204	single nucleotide variant	NM_001079866.2(BCS1L):c.464G>C (p.Arg155Pro)	Mitochondrial complex III deficiency nuclear type 1 [RCV000006540]	pathogenic	2	218661762	218661762	Human	1	name
8597066	CV21209	single nucleotide variant	NM_001079866.2(BCS1L):c.548G>A (p.Arg183His)	GRACILE syndrome [RCV001835622]\|Leigh syndrome [RCV000779835]\|Mitochondrial complex III deficiency nuclear type 1 [RCV002243624]\|Pili torti-deafness syndrome [RCV000006545]\|Pili torti-deafness syndrome [RCV002476937]\|not provided [RCV002512833]	pathogenic	2	218661846	218661846	Human	4	name
8597067	CV21210	single nucleotide variant	NM_001079866.2(BCS1L):c.550C>T (p.Arg184Cys)	BCS1L-related disorder [RCV004532300]\|Bjornstad syndrome with mild mitochondrial complex III deficiency [RCV000006546]\|GRACILE syndrome [RCV001142702]\|Mitochondrial complex III deficiency nuclear type 1 [RCV000034811]\|Pili torti-deafness syndrome [RCV003472990]\| ... (more) Pili torti-deafness syndrome [RCV005016250]\|not provided [RCV000384654]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	2	218661848	218661848	Human	3	name , trait , alternate_id
8559151	CV21213	single nucleotide variant	NM_001079866.2(BCS1L):c.547C>T (p.Arg183Cys)	GRACILE syndrome [RCV000674245]\|Mitochondrial complex III deficiency nuclear type 1 [RCV000006550]\|Pili torti-deafness syndrome [RCV003472991]\|Pili torti-deafness syndrome [RCV005025016]\|not provided [RCV000521027]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|no classifications from unflagged records	2	218661845	218661845	Human	3	name
155955525	CV2161666	single nucleotide variant	NM_001079866.2(BCS1L):c.478C>A (p.Gln160Lys)	not provided [RCV003032658]	uncertain significance	2	218661776	218661776	Human		name
156149739	CV2213018	single nucleotide variant	NM_001079866.2(BCS1L):c.461C>A (p.Ala154Asp)	Inborn genetic diseases [RCV002697567]	uncertain significance	2	218661759	218661759	Human	1	name
156262563	CV2287622	single nucleotide variant	NM_001079866.2(BCS1L):c.752T>C (p.Ile251Thr)	Inborn genetic diseases [RCV002855513]	uncertain significance	2	218662542	218662542	Human	1	name
156214914	CV2385953	single nucleotide variant	NM_001079866.2(BCS1L):c.331A>C (p.Lys111Gln)	Inborn genetic diseases [RCV002744331]\|not provided [RCV004812479]	uncertain significance	2	218661416	218661416	Human	1	name
329847622	CV2524369	single nucleotide variant	NM_001079866.2(BCS1L):c.884T>G (p.Val295Gly)	not provided [RCV003227261]	uncertain significance	2	218662674	218662674	Human		name
11558098	CV259729	single nucleotide variant	NM_001079866.2(BCS1L):c.703G>A (p.Gly235Arg)	GRACILE syndrome [RCV000670051]\|Mitochondrial complex III deficiency nuclear type 1 [RCV001329215]\|Pili torti-deafness syndrome [RCV005025405]\|not provided [RCV000255431]\|not specified [RCV004800367]	pathogenic\|likely pathogenic\|uncertain significance	2	218662244	218662244	Human	3	name
401739042	CV2738464	single nucleotide variant	NM_001079866.2(BCS1L):c.487G>A (p.Glu163Lys)	not specified [RCV003317856]	uncertain significance	2	218661785	218661785	Human		name
401937649	CV2798930	single nucleotide variant	NM_001079866.2(BCS1L):c.907G>C (p.Gly303Arg)	BCS1L-related disorder [RCV004528624]\|Inborn genetic diseases [RCV004963636]\|not provided [RCV003708791]	uncertain significance	2	218662900	218662900	Human	2	name , trait , alternate_id
401949482	CV2833878	single nucleotide variant	NM_001079866.2(BCS1L):c.580C>T (p.Gln194Ter)	Pili torti-deafness syndrome [RCV003474342]\|Pili torti-deafness syndrome [RCV005021990]	likely pathogenic	2	218661878	218661878	Human	1	name
401949483	CV2833879	single nucleotide variant	NM_001079866.2(BCS1L):c.397G>T (p.Glu133Ter)	Pili torti-deafness syndrome [RCV003474343]	likely pathogenic	2	218661482	218661482	Human	1	name
401949485	CV2833881	duplication	NM_001079866.2(BCS1L):c.1026dup (p.Arg343fs)	Pili torti-deafness syndrome [RCV003474345]	likely pathogenic	2	218663151	218663152	Human	1	name
405085209	CV2865900	single nucleotide variant	NM_001079866.2(BCS1L):c.575T>C (p.Val192Ala)	not provided [RCV003549518]	likely pathogenic	2	218661873	218661873	Human		name
405211228	CV2867812	single nucleotide variant	NM_001079866.2(BCS1L):c.826C>T (p.Gln276Ter)	not provided [RCV003552535]	pathogenic	2	218662616	218662616	Human		name
405015795	CV2930492	single nucleotide variant	NM_001079866.2(BCS1L):c.386G>A (p.Gly129Glu)	not provided [RCV003577042]	likely pathogenic	2	218661471	218661471	Human		name
405067288	CV3030894	single nucleotide variant	NM_001079866.2(BCS1L):c.908G>A (p.Gly303Asp)	not provided [RCV003698107]	uncertain significance	2	218662901	218662901	Human		name
405872570	CV3399905	single nucleotide variant	NM_001079866.2(BCS1L):c.464G>A (p.Arg155Gln)	Pili torti-deafness syndrome [RCV004575408]\|Pili torti-deafness syndrome [RCV005023576]	likely pathogenic	2	218661762	218661762	Human	1	name
407426819	CV3411619	single nucleotide variant	NM_001079866.2(BCS1L):c.821C>T (p.Pro274Leu)	Inborn genetic diseases [RCV004605088]\|Pili torti-deafness syndrome [RCV005015208]\|not provided [RCV004590797]	uncertain significance	2	218662611	218662611	Human	2	name
12738475	CV357237	single nucleotide variant	NM_001079866.2(BCS1L):c.349C>T (p.Arg117Ter)	GRACILE syndrome [RCV000409388]\|Pili torti-deafness syndrome [RCV003475945]\|not provided [RCV001357982]	pathogenic\|likely pathogenic	2	218661434	218661434	Human	2	name
12738559	CV357240	single nucleotide variant	NM_001079866.2(BCS1L):c.556C>T (p.Arg186Ter)	GRACILE syndrome [RCV000409533]\|Pili torti-deafness syndrome [RCV003475966]\|not provided [RCV001050600]	pathogenic\|likely pathogenic	2	218661854	218661854	Human	2	name
12739039	CV361172	single nucleotide variant	NM_001079866.2(BCS1L):c.598C>T (p.Arg200Ter)	Mitochondrial complex III deficiency nuclear type 1 [RCV000415338]\|Pili torti-deafness syndrome [RCV002502446]\|Pili torti-deafness syndrome [RCV003476004]\|not provided [RCV000497971]	pathogenic\|likely pathogenic	2	218661896	218661896	Human	2	name
597636416	CV3639846	single nucleotide variant	NM_001079866.2(BCS1L):c.691C>A (p.Pro231Thr)	Inborn genetic diseases [RCV004969888]	uncertain significance	2	218662232	218662232	Human	1	name
597636427	CV3639849	single nucleotide variant	NM_001079866.2(BCS1L):c.874G>A (p.Asp292Asn)	Inborn genetic diseases [RCV004969891]	uncertain significance	2	218662664	218662664	Human	1	name
12842241	CV366182	single nucleotide variant	NM_001079866.2(BCS1L):c.383C>T (p.Thr128Met)	GRACILE syndrome [RCV001833541]\|not provided [RCV000434040]	uncertain significance	2	218661468	218661468	Human	1	name
12842605	CV366186	single nucleotide variant	NM_001079866.2(BCS1L):c.967G>A (p.Glu323Lys)	GRACILE syndrome [RCV001833558]\|not provided [RCV000434721]	uncertain significance	2	218662960	218662960	Human	1	name
12849590	CV366362	single nucleotide variant	NM_001079866.2(BCS1L):c.385G>A (p.Gly129Arg)	GRACILE syndrome [RCV004798833]\|Leigh syndrome [RCV001329213]\|Mitochondrial complex III deficiency nuclear type 1 [RCV002285017]\|not provided [RCV000432529]	pathogenic\|likely pathogenic	2	218661470	218661470	Human	3	name
12841238	CV366416	single nucleotide variant	NM_001079866.2(BCS1L):c.725C>G (p.Ala242Gly)	not provided [RCV000432216]	likely pathogenic\|uncertain significance	2	218662515	218662515	Human		name
12846770	CV366426	single nucleotide variant	NM_001079866.2(BCS1L):c.985A>G (p.Met329Val)	GRACILE syndrome [RCV001833542]\|Pili torti-deafness syndrome [RCV002480307]\|not provided [RCV000442263]	uncertain significance	2	218662978	218662978	Human	2	name
597763187	CV3706090	single nucleotide variant	NM_001079866.2(BCS1L):c.991A>G (p.Thr331Ala)	Pili torti-deafness syndrome [RCV005018640]	uncertain significance	2	218662984	218662984	Human	1	name
597635036	CV3710210	single nucleotide variant	NM_001079866.2(BCS1L):c.367A>G (p.Met123Val)	Pili torti-deafness syndrome [RCV005024073]	uncertain significance	2	218661452	218661452	Human	1	name
597763165	CV3710211	single nucleotide variant	NM_001079866.2(BCS1L):c.445A>G (p.Asn149Asp)	Pili torti-deafness syndrome [RCV005018636]	uncertain significance	2	218661530	218661530	Human	1	name
597635043	CV3710213	single nucleotide variant	NM_001079866.2(BCS1L):c.497C>T (p.Thr166Ile)	Pili torti-deafness syndrome [RCV005024074]	uncertain significance	2	218661795	218661795	Human	1	name
597635048	CV3710214	single nucleotide variant	NM_001079866.2(BCS1L):c.526T>C (p.Trp176Arg)	Pili torti-deafness syndrome [RCV005024075]	uncertain significance	2	218661824	218661824	Human	1	name
597635055	CV3710217	single nucleotide variant	NM_001079866.2(BCS1L):c.577C>G (p.Leu193Val)	Pili torti-deafness syndrome [RCV005024076]	uncertain significance	2	218661875	218661875	Human	1	name
597763182	CV3710218	single nucleotide variant	NM_001079866.2(BCS1L):c.666C>G (p.Tyr222Ter)	Pili torti-deafness syndrome [RCV005018639]	likely pathogenic	2	218662207	218662207	Human	1	name
597635061	CV3710219	single nucleotide variant	NM_001079866.2(BCS1L):c.913G>C (p.Gly305Arg)	Pili torti-deafness syndrome [RCV005024077]	uncertain significance	2	218662906	218662906	Human	1	name
597635068	CV3710220	single nucleotide variant	NM_001079866.2(BCS1L):c.934C>A (p.Leu312Met)	Pili torti-deafness syndrome [RCV005024078]	uncertain significance	2	218662927	218662927	Human	1	name
597721387	CV3733715	single nucleotide variant	NM_001079866.2(BCS1L):c.902A>G (p.Tyr301Cys)	Pili torti-deafness syndrome [RCV005053020]	likely pathogenic	2	218662895	218662895	Human	1	name
12893834	CV405616	single nucleotide variant	NM_001079866.2(BCS1L):c.838C>T (p.Leu280Phe)	Neuromuscular disease [RCV004801921]\|not provided [RCV000480400]	likely pathogenic\|uncertain significance	2	218662628	218662628	Human	1	name
13538926	CV496261	single nucleotide variant	NM_001079866.2(BCS1L):c.373G>A (p.Asp125Asn)	not specified [RCV000612560]	uncertain significance	2	218661458	218661458	Human		name
13612088	CV513921	single nucleotide variant	NM_001079866.2(BCS1L):c.814G>A (p.Val272Met)	Seizure [RCV000626741]	uncertain significance	2	218662604	218662604	Human	2	name
13627233	CV535298	single nucleotide variant	NM_001079866.2(BCS1L):c.755G>A (p.Cys252Tyr)	not provided [RCV000656238]	likely pathogenic	2	218662545	218662545	Human		name
13791020	CV541900	single nucleotide variant	NM_001079866.2(BCS1L):c.413C>T (p.Thr138Met)	GRACILE syndrome [RCV000666979]\|Pili torti-deafness syndrome [RCV004568504]\|not provided [RCV001855471]\|not specified [RCV002282302]	likely pathogenic\|uncertain significance	2	218661498	218661498	Human	2	name
13831962	CV582459	single nucleotide variant	NM_001079866.2(BCS1L):c.712A>T (p.Ser238Cys)	not provided [RCV000722647]	uncertain significance	2	218662253	218662253	Human		name
14981524	CV613537	single nucleotide variant	NM_001079866.2(BCS1L):c.518G>A (p.Gly173Asp)	Intellectual disability [RCV000850205]\|Microcephaly [RCV001003576]\|Microcephaly [RCV001003577]\|Pili torti-deafness syndrome [RCV003472288]\|Pili torti-deafness syndrome [RCV005021153]\|not provided [RCV001869051]	pathogenic\|likely pathogenic\|uncertain significance	2	218661816	218661816	Human	8	name
14730784	CV629464	single nucleotide variant	NM_001079866.2(BCS1L):c.430C>T (p.Arg144Ter)	Pili torti-deafness syndrome [RCV002501070]\|Pili torti-deafness syndrome [RCV004569575]\|not provided [RCV000801104]	pathogenic\|likely pathogenic	2	218661515	218661515	Human	1	name
14703105	CV654241	single nucleotide variant	NM_001079866.2(BCS1L):c.775T>A (p.Ser259Thr)	BCS1L-related disorder [RCV004540123]\|GRACILE syndrome [RCV001276430]\|not provided [RCV000903722]\|not specified [RCV000825054]	benign\|likely benign\|conflicting interpretations of pathogenicity	2	218662565	218662565	Human	2	name , trait , alternate_id
8617145	CV71052	single nucleotide variant	NM_001079866.2(BCS1L):c.431G>A (p.Arg144Gln)	GRACILE syndrome [RCV000049826]	likely pathogenic	2	218661516	218661516	Human	1	name
8617146	CV71053	single nucleotide variant	NM_001079866.2(BCS1L):c.980T>C (p.Val327Ala)	GRACILE syndrome [RCV000049827]	likely pathogenic	2	218662973	218662973	Human	1	name
26904263	CV825742	single nucleotide variant	NM_001079866.2(BCS1L):c.355C>T (p.Arg119Ter)	Mitochondrial complex III deficiency nuclear type 1 [RCV005232111]\|Pili torti-deafness syndrome [RCV002482133]\|Pili torti-deafness syndrome [RCV003473699]\|not provided [RCV001070513]	pathogenic\|likely pathogenic	2	218661440	218661440	Human	2	name
28886946	CV883750	single nucleotide variant	NM_001079866.2(BCS1L):c.566A>G (p.Asn189Ser)	GRACILE syndrome [RCV001137960]\|Leigh syndrome [RCV001137959]\|Mitochondrial complex III deficiency nuclear type 1 [RCV001142703]	uncertain significance	2	218661864	218661864	Human	3	name
38474581	CV942611	single nucleotide variant	NM_001079866.2(BCS1L):c.903C>G (p.Tyr301Ter)	not provided [RCV001232280]	pathogenic	2	218662896	218662896	Human		name
38495277	CV952936	single nucleotide variant	NM_001079866.2(BCS1L):c.528G>A (p.Trp176Ter)	Pili torti-deafness syndrome [RCV003473822]\|Pili torti-deafness syndrome [RCV005014297]\|not provided [RCV001241843]	pathogenic\|likely pathogenic	2	218661826	218661826	Human	1	name
151727309	CV1412640	single nucleotide variant	NM_001079866.2(BCS1L):c.1157G>A (p.Arg386Gln)	Pili torti-deafness syndrome [RCV002484569]\|not provided [RCV001945689]	uncertain significance	2	218663283	218663283	Human	1	name
151861876	CV1474106	single nucleotide variant	NM_001079866.2(BCS1L):c.1207T>C (p.Tyr403His)	not provided [RCV001884022]	uncertain significance	2	218663333	218663333	Human		name
156364090	CV1901600	single nucleotide variant	NM_001079866.2(BCS1L):c.1195T>G (p.Tyr399Asp)	not provided [RCV002602698]	uncertain significance	2	218663321	218663321	Human		name
156134681	CV2047999	single nucleotide variant	NM_001079866.2(BCS1L):c.1118C>A (p.Ala373Glu)	not provided [RCV002800740]	uncertain significance	2	218663244	218663244	Human		name
8559147	CV21205	single nucleotide variant	NM_001079866.2(BCS1L):c.1057G>A (p.Val353Met)	Mitochondrial complex III deficiency nuclear type 1 [RCV000006541]\|Pili torti-deafness syndrome [RCV003472986]\|Pili torti-deafness syndrome [RCV005016248]\|not provided [RCV001851699]	pathogenic\|likely pathogenic\|uncertain significance	2	218663183	218663183	Human	2	name
156024497	CV2128822	single nucleotide variant	NM_001079866.2(BCS1L):c.1232T>G (p.Ile411Ser)	Inborn genetic diseases [RCV003170707]\|not provided [RCV002948934]	uncertain significance	2	218663358	218663358	Human	1	name
155938392	CV2135192	single nucleotide variant	NM_001079866.2(BCS1L):c.1074C>A (p.His358Gln)	not provided [RCV002993888]	likely benign	2	218663200	218663200	Human		name
156233070	CV2137157	single nucleotide variant	NM_001079866.2(BCS1L):c.1147C>A (p.His383Asn)	not provided [RCV003007814]	uncertain significance	2	218663273	218663273	Human		name
156216051	CV2253739	single nucleotide variant	NM_001079866.2(BCS1L):c.1030C>A (p.Pro344Thr)	Inborn genetic diseases [RCV002804410]	uncertain significance	2	218663156	218663156	Human	1	name
243064920	CV2409486	single nucleotide variant	NM_001079866.2(BCS1L):c.1025T>C (p.Ile342Thr)	Pili torti-deafness syndrome [RCV005029921]\|not provided [RCV003143776]	uncertain significance	2	218663151	218663151	Human	1	name
401931573	CV2803899	single nucleotide variant	NM_001079866.2(BCS1L):c.1181C>A (p.Ala394Asp)	BCS1L-related disorder [RCV004528757]	uncertain significance	2	218663307	218663307	Human	1	name , trait , alternate_id
401949480	CV2833876	single nucleotide variant	NM_001079866.2(BCS1L):c.1076G>A (p.Trp359Ter)	Pili torti-deafness syndrome [RCV003474340]	likely pathogenic	2	218663202	218663202	Human	1	name
401949491	CV2833887	single nucleotide variant	NM_001079866.2(BCS1L):c.1156C>T (p.Arg386Ter)	Pili torti-deafness syndrome [RCV003474351]	likely pathogenic	2	218663282	218663282	Human	1	name
401949492	CV2833888	single nucleotide variant	NM_001079866.2(BCS1L):c.1070C>A (p.Ser357Ter)	Pili torti-deafness syndrome [RCV003474352]	likely pathogenic	2	218663196	218663196	Human	1	name
407472363	CV3427445	single nucleotide variant	NM_001079866.2(BCS1L):c.1145A>G (p.Glu382Gly)	Inborn genetic diseases [RCV004600107]	uncertain significance	2	218663271	218663271	Human	1	name
408368017	CV3509343	single nucleotide variant	NM_001079866.2(BCS1L):c.1183C>T (p.Gln395Ter)	BCS1L-related disorder [RCV004733750]	likely pathogenic	2	218663309	218663309	Human	1	name , trait , alternate_id
597635407	CV3706091	single nucleotide variant	NM_001079866.2(BCS1L):c.1000G>C (p.Val334Leu)	Pili torti-deafness syndrome [RCV005024079]	uncertain significance	2	218662993	218662993	Human	1	name
597763193	CV3706092	single nucleotide variant	NM_001079866.2(BCS1L):c.1001T>C (p.Val334Ala)	Pili torti-deafness syndrome [RCV005018641]	uncertain significance	2	218662994	218662994	Human	1	name
597763206	CV3706094	single nucleotide variant	NM_001079866.2(BCS1L):c.1085C>A (p.Thr362Asn)	Pili torti-deafness syndrome [RCV005018643]	uncertain significance	2	218663211	218663211	Human	1	name
597763211	CV3706096	single nucleotide variant	NM_001079866.2(BCS1L):c.1106A>G (p.Tyr369Cys)	Pili torti-deafness syndrome [RCV005018644]	uncertain significance	2	218663232	218663232	Human	1	name
597635079	CV3706097	single nucleotide variant	NM_001079866.2(BCS1L):c.1112G>C (p.Gly371Ala)	Pili torti-deafness syndrome [RCV005024080]	uncertain significance	2	218663238	218663238	Human	1	name
597635086	CV3706098	single nucleotide variant	NM_001079866.2(BCS1L):c.1189C>T (p.Gln397Ter)	Pili torti-deafness syndrome [RCV005024081]	likely pathogenic	2	218663315	218663315	Human	1	name
13783469	CV541759	single nucleotide variant	NM_001079866.2(BCS1L):c.1036C>T (p.Arg346Ter)	GRACILE syndrome [RCV000670083]\|Pili torti-deafness syndrome [RCV004568535]\|Pili torti-deafness syndrome [RCV005027806]	likely pathogenic	2	218663162	218663162	Human	2	name
13789314	CV541823	single nucleotide variant	NM_001079866.2(BCS1L):c.1127T>A (p.Leu376Ter)	GRACILE syndrome [RCV000674449]	likely pathogenic	2	218663253	218663253	Human	1	name
14703213	CV654243	single nucleotide variant	NM_001079866.2(BCS1L):c.1000G>A (p.Val334Ile)	GRACILE syndrome [RCV001140960]\|Leigh syndrome [RCV001140962]\|Mitochondrial complex III deficiency nuclear type 1 [RCV001140961]\|not provided [RCV000885856]\|not specified [RCV000825116]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	218662993	218662993	Human	3	name
26902552	CV857611	single nucleotide variant	NM_001079866.2(BCS1L):c.1031C>T (p.Pro344Leu)	Decreased activity of mitochondrial complex III [RCV001089493]\|GRACILE syndrome [RCV004559905]	uncertain significance	2	218663157	218663157	Human	3	name
38499456	CV952935	deletion	NM_001079866.2(BCS1L):c.280_281del (p.Lys94fs)	Pili torti-deafness syndrome [RCV003473826]\|not provided [RCV001244656]	pathogenic\|likely pathogenic	2	218661267	218661268	Human	1	name
127270097	CV1059181	microsatellite	NM_001079866.2(BCS1L):c.610_611del (p.Asp204fs)	not provided [RCV001389732]	pathogenic	2	218661905	218661906	Human		name
155736322	CV1782058	deletion	NM_001079866.2(BCS1L):c.522_523del (p.Glu175fs)	Pili torti-deafness syndrome [RCV002309799]	likely pathogenic	2	218661820	218661821	Human	1	name
155960304	CV2080405	duplication	NM_001079866.2(BCS1L):c.429_432dup (p.Lys145fs)	not provided [RCV002862826]	pathogenic	2	218661511	218661512	Human		name
10410856	CV210778	deletion	NM_001079866.2(BCS1L):c.625_626del (p.Ile209fs)	not provided [RCV000199046]	pathogenic	2	218661923	218661924	Human		name
156264577	CV2138875	duplication	NM_001079866.2(BCS1L):c.588_591dup (p.Ala198fs)	not provided [RCV002988592]	pathogenic	2	218661884	218661885	Human		name
401949478	CV2833874	deletion	NM_001079866.2(BCS1L):c.993_999del (p.Asn332fs)	Pili torti-deafness syndrome [RCV003474338]\|Pili torti-deafness syndrome [RCV005030051]	likely pathogenic	2	218662981	218662987	Human	1	name
401949481	CV2833877	deletion	NM_001079866.2(BCS1L):c.671_675del (p.Arg224fs)	Pili torti-deafness syndrome [RCV003474341]	likely pathogenic	2	218662211	218662215	Human	1	name
401949486	CV2833882	deletion	NM_001079866.2(BCS1L):c.793_796del (p.Arg265fs)	Pili torti-deafness syndrome [RCV003474346]	likely pathogenic	2	218662580	218662583	Human	1	name
401949487	CV2833883	deletion	NM_001079866.2(BCS1L):c.950_953del (p.Asp317fs)	GRACILE syndrome [RCV003988121]\|Pili torti-deafness syndrome [RCV003474347]\|Pili torti-deafness syndrome [RCV005030053]\|not provided [RCV004810010]	pathogenic\|likely pathogenic	2	218662940	218662943	Human	2	name
405872361	CV3399906	deletion	NM_001079866.2(BCS1L):c.401_402del (p.Ser134fs)	Pili torti-deafness syndrome [RCV004575409]	likely pathogenic	2	218661485	218661486	Human	1	name
13783944	CV541730	deletion	NM_001079866.2(BCS1L):c.291_293del (p.Val98del)	GRACILE syndrome [RCV000670438]\|not provided [RCV004788094]	uncertain significance	2	218661277	218661279	Human	1	name
13785519	CV541896	deletion	NM_001079866.2(BCS1L):c.255_257del (p.Gln85del)	GRACILE syndrome [RCV000672098]\|not provided [RCV001868262]	uncertain significance	2	218661240	218661242	Human	1	name
14737966	CV629465	microsatellite	NM_001079866.2(BCS1L):c.654_655del (p.Gly219fs)	not provided [RCV000804301]	pathogenic	2	218661950	218661951	Human		name
155736822	CV1784027	insertion	NM_001079866.2(BCS1L):c.604_605insC (p.Val202fs)	Pili torti-deafness syndrome [RCV002310184]	likely pathogenic	2	218661902	218661903	Human	1	name
155726271	CV1783753	insertion	NM_001079866.2(BCS1L):c.402_403insTT (p.Val135fs)	Pili torti-deafness syndrome [RCV002307197]	likely pathogenic	2	218661486	218661487	Human	1	name
401949490	CV2833886	insertion	NM_001079866.2(BCS1L):c.897_898insCC (p.Lys300fs)	Pili torti-deafness syndrome [RCV003474350]	likely pathogenic	2	218662890	218662891	Human	1	name
12740395	CV357245	deletion	NM_001079866.2(BCS1L):c.1244_1245del (p.Glu415fs)	GRACILE syndrome [RCV000411872]	likely pathogenic	2	218663369	218663370	Human	1	name
597956334	CV3754610	duplication	NM_001079866.2(BCS1L):c.1105_1108dup (p.Pro370fs)	not provided [RCV005080460]	uncertain significance	2	218663228	218663229	Human		name
13788681	CV541827	duplication	NM_001079866.2(BCS1L):c.1196_1198dup (p.Tyr399dup)	GRACILE syndrome [RCV000674094]	uncertain significance	2	218663319	218663320	Human	1	name
13791136	CV541857	deletion	NM_001079866.2(BCS1L):c.1048_1050del (p.Lys350del)	GRACILE syndrome [RCV000667122]	uncertain significance	2	218663173	218663175	Human	1	name
401949484	CV2833880	indel	NM_001079866.2(BCS1L):c.734_735delinsC (p.Gly245fs)	Pili torti-deafness syndrome [RCV003474344]	likely pathogenic	2	218662524	218662525	Human		name
155736615	CV1782284	insertion	NM_001079866.2(BCS1L):c.308_309insTGCGG (p.His104fs)	Pili torti-deafness syndrome [RCV002310025]	likely pathogenic	2	218661295	218661296	Human	1	name
13789917	CV541744	deletion	NM_001079866.2(BCS1L):c.607_615del (p.Arg203_Val205del)	GRACILE syndrome [RCV000666246]	uncertain significance	2	218661902	218661910	Human	1	name
13532990	CV511395	microsatellite	NM_001079866.2(BCS1L):c.785_786del (p.Leu261_Ser262insTer)	Inborn genetic diseases [RCV000624760]\|not provided [RCV001868139]	pathogenic	2	218662571	218662572	Human		name
155736607	CV1782278	insertion	NM_001079866.2(BCS1L):c.798_799insCACCGGCCTCCACC (p.Asn267fs)	Pili torti-deafness syndrome [RCV002310019]	likely pathogenic	2	218662587	218662588	Human	1	name

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