Bbs5 Variant Search Result - Rat Genome Database

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434 records found for search term Bbs5

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
151356472	CV1329236	single nucleotide variant	NM_152384.3(BBS5):c.-2C>A	BBS5-related disorder [RCV003911038]\|not specified [RCV001822825]	likely benign\|uncertain significance	2	169479552	169479552	Human	1	name , trait , alternate_id
408380226	CV3511081	single nucleotide variant	NM_152384.3(BBS5):c.*5C>A	BBS5-related disorder [RCV004753970]	likely benign	2	169504587	169504587	Human		name , trait , alternate_id
408380353	CV3514901	single nucleotide variant	NM_152384.3(BBS5):c.-9T>C	BBS5-related disorder [RCV004754145]	likely benign	2	169479545	169479545	Human		name , trait , alternate_id
408379089	CV3515108	single nucleotide variant	NM_152384.3(BBS5):c.*1T>A	BBS5-related disorder [RCV004752543]	likely benign	2	169504583	169504583	Human		name , trait , alternate_id
11550556	CV250384	single nucleotide variant	NM_152384.3(BBS5):c.-40G>C	Bardet-Biedl syndrome 5 [RCV001553961]\|not provided [RCV001636831]\|not specified [RCV000251912]	benign	2	169479514	169479514	Human	1	name
150454821	CV1220353	single nucleotide variant	NM_152384.3(BBS5):c.*242A>G	not provided [RCV001612446]	benign	2	169504824	169504824	Human		name
150444228	CV1232986	single nucleotide variant	NM_152384.3(BBS5):c.*334T>C	not provided [RCV001645658]	benign	2	169504916	169504916	Human		name
150494485	CV1238874	single nucleotide variant	NM_152384.3(BBS5):c.*323A>G	not provided [RCV001655418]	benign	2	169504905	169504905	Human		name
151847533	CV1445470	single nucleotide variant	NM_152384.3(BBS5):c.59+5G>A	Bardet-Biedl syndrome 5 [RCV002497950]\|Bardet-Biedl syndrome [RCV001995535]	uncertain significance	2	169479617	169479617	Human	2	name
156016092	CV2087189	single nucleotide variant	NM_152384.3(BBS5):c.59+5G>T	Bardet-Biedl syndrome [RCV002866363]	likely pathogenic	2	169479617	169479617	Human	1	name
405073170	CV3031950	single nucleotide variant	NM_152384.3(BBS5):c.60-7A>T	Bardet-Biedl syndrome [RCV003633179]	likely benign	2	169482244	169482244	Human	1	name
405073994	CV3043486	single nucleotide variant	NM_152384.3(BBS5):c.60-2A>C	Bardet-Biedl syndrome [RCV003633319]	likely pathogenic	2	169482249	169482249	Human	1	name
405156987	CV3163447	single nucleotide variant	NM_152384.3(BBS5):c.60-9T>G	Bardet-Biedl syndrome [RCV003856693]	likely benign	2	169482242	169482242	Human	1	name
15120636	CV685117	single nucleotide variant	NM_152384.3(BBS5):c.60-3T>C	BBS5-related disorder [RCV003938212]\|Bardet-Biedl syndrome 5 [RCV002495219]\|Bardet-Biedl syndrome [RCV000861719]\|not provided [RCV001701451]	likely benign	2	169482248	169482248	Human	2	name , trait , alternate_id
126750433	CV1003449	single nucleotide variant	NM_152384.3(BBS5):c.60-10T>G	Bardet-Biedl syndrome 5 [RCV002476469]\|Bardet-Biedl syndrome [RCV001315918]	uncertain significance	2	169482241	169482241	Human	2	name
126922634	CV1040804	single nucleotide variant	NM_152384.3(BBS5):c.259-3C>G	Bardet-Biedl syndrome 5 [RCV002476663]\|Bardet-Biedl syndrome [RCV001364897]	likely pathogenic\|uncertain significance	2	169487984	169487984	Human	2	name
127252514	CV1054960	single nucleotide variant	NM_152384.3(BBS5):c.142+1G>T	Bardet-Biedl syndrome [RCV001378765]	likely pathogenic	2	169482334	169482334	Human	1	name
127260539	CV1068337	single nucleotide variant	NM_152384.3(BBS5):c.682-5T>C	Bardet-Biedl syndrome [RCV001402203]	likely benign	2	169499481	169499481	Human	1	name
127330456	CV1111559	single nucleotide variant	NM_152384.3(BBS5):c.142+9A>G	Bardet-Biedl syndrome [RCV001470871]	likely benign	2	169482342	169482342	Human	1	name
127312705	CV1111561	single nucleotide variant	NM_152384.3(BBS5):c.619-9T>C	BBS5-related disorder [RCV003946192]\|Bardet-Biedl syndrome [RCV001457202]	likely benign	2	169497618	169497618	Human	2	name , trait , alternate_id
151825895	CV1393853	single nucleotide variant	NM_152384.3(BBS5):c.522+4T>C	Bardet-Biedl syndrome [RCV002030332]	uncertain significance	2	169493013	169493013	Human	1	name
151784614	CV1434715	single nucleotide variant	NM_152384.3(BBS5):c.259-3C>T	BBS5-related disorder [RCV003956431]\|Bardet-Biedl syndrome 5 [RCV002482644]\|Bardet-Biedl syndrome [RCV001897557]	likely benign\|uncertain significance	2	169487984	169487984	Human	2	name , trait , alternate_id
151867672	CV1436017	single nucleotide variant	NM_152384.3(BBS5):c.925-3A>G	Bardet-Biedl syndrome [RCV001997934]	uncertain significance	2	169504478	169504478	Human	1	name
151833135	CV1439304	single nucleotide variant	NM_152384.3(BBS5):c.142+3G>T	Bardet-Biedl syndrome [RCV001976845]	uncertain significance	2	169482336	169482336	Human	1	name
151854244	CV1455662	single nucleotide variant	NM_152384.3(BBS5):c.817-1G>T	BBS5-related disorder [RCV004753474]\|Bardet-Biedl syndrome 5 [RCV005025647]\|Bardet-Biedl syndrome [RCV002016979]	likely pathogenic	2	169503094	169503094	Human	2	name , trait , alternate_id
151892377	CV1480967	deletion	NM_152384.3(BBS5):c.143-3del	Bardet-Biedl syndrome [RCV001944049]	uncertain significance	2	169487063	169487063	Human		name
152028037	CV1607680	single nucleotide variant	NM_152384.3(BBS5):c.681+9T>C	Bardet-Biedl syndrome [RCV002105097]	likely benign	2	169497698	169497698	Human	1	name
152166197	CV1653880	single nucleotide variant	NM_152384.3(BBS5):c.60-19A>G	Bardet-Biedl syndrome [RCV002160597]	likely benign	2	169482232	169482232	Human	1	name
152982658	CV1677581	single nucleotide variant	NM_152384.3(BBS5):c.209-1G>A	Bardet-Biedl syndrome 5 [RCV002249291]\|Bardet-Biedl syndrome [RCV005095820]	pathogenic\|likely pathogenic	2	169487805	169487805	Human	2	name
156010060	CV1870781	single nucleotide variant	NM_152384.3(BBS5):c.258+5G>A	Bardet-Biedl syndrome [RCV003077035]	uncertain significance	2	169487860	169487860	Human	1	name
156217150	CV1903419	single nucleotide variant	NM_152384.3(BBS5):c.925-4A>G	BBS5-related disorder [RCV003404086]\|Bardet-Biedl syndrome 5 [RCV005028231]\|Bardet-Biedl syndrome [RCV003084843]	uncertain significance	2	169504477	169504477	Human	2	name , trait , alternate_id
155912590	CV1935349	deletion	NM_152384.3(BBS5):c.142+1del	Bardet-Biedl syndrome 5 [RCV002510680]	likely pathogenic	2	169482333	169482333	Human	1	name
156447389	CV1945035	single nucleotide variant	NM_152384.3(BBS5):c.259-7C>G	Bardet-Biedl syndrome [RCV003118917]	likely benign	2	169487980	169487980	Human	1	name
156242255	CV2053152	single nucleotide variant	NM_152384.3(BBS5):c.60-11A>G	Bardet-Biedl syndrome [RCV002791394]	likely benign	2	169482240	169482240	Human	1	name
156107033	CV2089208	single nucleotide variant	NM_152384.3(BBS5):c.209-9G>A	Bardet-Biedl syndrome [RCV002848296]	uncertain significance	2	169487797	169487797	Human	1	name
8559142	CV21196	single nucleotide variant	NM_152384.3(BBS5):c.522+3A>G	Bardet-Biedl syndrome 5 [RCV000006532]\|Bardet-Biedl syndrome [RCV002307356]	pathogenic	2	169493012	169493012	Human	2	name
156119119	CV2150761	single nucleotide variant	NM_152384.3(BBS5):c.901-6T>C	Bardet-Biedl syndrome [RCV003021726]	likely benign	2	169504297	169504297	Human	1	name
156350035	CV2189533	single nucleotide variant	NM_152384.3(BBS5):c.523-4A>G	Bardet-Biedl syndrome [RCV003048262]	likely benign	2	169493737	169493737	Human	1	name
243065000	CV2409459	single nucleotide variant	NM_152384.3(BBS5):c.387-3T>C	Bardet-Biedl syndrome 5 [RCV003143749]	uncertain significance	2	169492871	169492871	Human	1	name
329351397	CV2476283	single nucleotide variant	NM_152384.3(BBS5):c.682-1G>A	Bardet-Biedl syndrome [RCV003222524]	likely pathogenic\|uncertain significance	2	169499485	169499485	Human	1	name
405069256	CV2901040	single nucleotide variant	NM_152384.3(BBS5):c.259-1G>A	Bardet-Biedl syndrome [RCV003523702]	likely pathogenic	2	169487986	169487986	Human	1	name
405068087	CV2902525	single nucleotide variant	NM_152384.3(BBS5):c.258+7C>G	Bardet-Biedl syndrome [RCV003523475]	likely benign	2	169487862	169487862	Human	1	name
405067982	CV2902736	single nucleotide variant	NM_152384.3(BBS5):c.682-6T>A	BBS5-related disorder [RCV004753695]\|Bardet-Biedl syndrome [RCV003523553]	likely benign	2	169499480	169499480	Human	2	name , trait , alternate_id
405067153	CV2905567	single nucleotide variant	NM_152384.3(BBS5):c.900+9C>A	Bardet-Biedl syndrome [RCV003523439]	likely benign	2	169503187	169503187	Human	1	name
405080251	CV2916703	single nucleotide variant	NM_152384.3(BBS5):c.60-14T>C	Bardet-Biedl syndrome [RCV003524511]	likely benign	2	169482237	169482237	Human	1	name
405059446	CV2927299	single nucleotide variant	NM_152384.3(BBS5):c.682-7C>A	Bardet-Biedl syndrome [RCV003522818]	likely benign	2	169499479	169499479	Human	1	name
405080275	CV2947599	single nucleotide variant	NM_152384.3(BBS5):c.60-19A>T	Bardet-Biedl syndrome [RCV003633810]	likely benign	2	169482232	169482232	Human	1	name
405081242	CV2950389	single nucleotide variant	NM_152384.3(BBS5):c.387-4A>T	Bardet-Biedl syndrome [RCV003633930]	likely benign	2	169492870	169492870	Human	1	name
405087991	CV2974503	single nucleotide variant	NM_152384.3(BBS5):c.816+7T>C	Bardet-Biedl syndrome [RCV003634582]	likely benign	2	169499627	169499627	Human	1	name
405095123	CV3002581	single nucleotide variant	NM_152384.3(BBS5):c.259-8C>T	Bardet-Biedl syndrome [RCV003635018]	likely benign	2	169487979	169487979	Human	1	name
405095943	CV3008473	single nucleotide variant	NM_152384.3(BBS5):c.522+8G>A	Bardet-Biedl syndrome [RCV003635191]	likely benign	2	169493017	169493017	Human	1	name
405071748	CV3034840	single nucleotide variant	NM_152384.3(BBS5):c.681+1G>T	Bardet-Biedl syndrome 5 [RCV005030207]\|Bardet-Biedl syndrome [RCV003633189]	pathogenic\|likely pathogenic	2	169497690	169497690	Human	2	name
405073394	CV3037058	single nucleotide variant	NM_152384.3(BBS5):c.59+12A>G	Bardet-Biedl syndrome [RCV003633278]	likely benign	2	169479624	169479624	Human	1	name
405083449	CV3070528	deletion	NM_152384.3(BBS5):c.523-5del	Bardet-Biedl syndrome [RCV003634200]	benign	2	169493731	169493731	Human	1	name
405083572	CV3078836	single nucleotide variant	NM_152384.3(BBS5):c.59+13G>T	Bardet-Biedl syndrome [RCV003634210]	likely benign	2	169479625	169479625	Human	1	name
405085096	CV3080615	single nucleotide variant	NM_152384.3(BBS5):c.59+19C>A	Bardet-Biedl syndrome [RCV003634359]	likely benign	2	169479631	169479631	Human	1	name
405131631	CV3115118	single nucleotide variant	NM_152384.3(BBS5):c.681+8C>G	Bardet-Biedl syndrome [RCV003815963]	likely benign	2	169497697	169497697	Human	1	name
405001789	CV3120303	single nucleotide variant	NM_152384.3(BBS5):c.682-9C>A	Bardet-Biedl syndrome [RCV003828093]	likely benign	2	169499477	169499477	Human	1	name
404979400	CV3127699	single nucleotide variant	NM_152384.3(BBS5):c.60-17C>T	Bardet-Biedl syndrome [RCV003825731]	likely benign	2	169482234	169482234	Human	1	name
405203604	CV3165231	deletion	NM_152384.3(BBS5):c.59+13del	Bardet-Biedl syndrome [RCV003861092]	likely benign	2	169479625	169479625	Human	1	name
405272507	CV3210053	single nucleotide variant	NM_152384.3(BBS5):c.619-5T>G	BBS5-related disorder [RCV003914304]	uncertain significance	2	169497622	169497622	Human		name , trait , alternate_id
405870478	CV3401536	single nucleotide variant	NM_152384.3(BBS5):c.208+5G>A	Bardet-Biedl syndrome 5 [RCV004577994]\|Bardet-Biedl syndrome [RCV005419759]	uncertain significance	2	169487139	169487139	Human	2	name
408385071	CV3505447	single nucleotide variant	NM_152384.3(BBS5):c.208+8T>A	BBS5-related disorder [RCV004732313]	uncertain significance	2	169487142	169487142	Human		name , trait , alternate_id
408379902	CV3507380	single nucleotide variant	NM_152384.3(BBS5):c.142+3G>A	BBS5-related disorder [RCV004753762]	likely benign	2	169482336	169482336	Human		name , trait , alternate_id
408379929	CV3508281	single nucleotide variant	NM_152384.3(BBS5):c.143-2A>G	BBS5-related disorder [RCV004753808]	likely pathogenic	2	169487067	169487067	Human		name , trait , alternate_id
408380002	CV3509468	single nucleotide variant	NM_152384.3(BBS5):c.682-6T>C	BBS5-related disorder [RCV004753872]\|Bardet-Biedl syndrome [RCV005103706]	likely benign	2	169499480	169499480	Human	2	name , trait , alternate_id
408380056	CV3510164	single nucleotide variant	NM_152384.3(BBS5):c.522+1G>A	BBS5-related disorder [RCV004753917]	likely pathogenic	2	169493010	169493010	Human		name , trait , alternate_id
408380174	CV3510741	single nucleotide variant	NM_152384.3(BBS5):c.924+8C>G	BBS5-related disorder [RCV004753944]	likely benign	2	169504334	169504334	Human		name , trait , alternate_id
597655524	CV3552169	single nucleotide variant	NM_152384.3(BBS5):c.900+1G>A	Bardet-Biedl syndrome 5 [RCV004821027]	likely pathogenic	2	169503179	169503179	Human	1	name
597676265	CV3712972	single nucleotide variant	NM_152384.3(BBS5):c.143-8G>T	Bardet-Biedl syndrome 5 [RCV005030541]	uncertain significance	2	169487061	169487061	Human	1	name
597676986	CV3712978	single nucleotide variant	NM_152384.3(BBS5):c.386+2T>C	Bardet-Biedl syndrome 5 [RCV005030547]	likely pathogenic	2	169488116	169488116	Human	1	name
597877559	CV3776080	single nucleotide variant	NM_152384.3(BBS5):c.925-7C>A	Bardet-Biedl syndrome [RCV005123608]	likely benign	2	169504474	169504474	Human	1	name
13795129	CV551524	single nucleotide variant	NM_152384.3(BBS5):c.209-2A>G	Bardet-Biedl syndrome 5 [RCV000678526]\|Bardet-Biedl syndrome [RCV003633534]\|not provided [RCV001529637]	pathogenic\|likely pathogenic	2	169487804	169487804	Human	2	name
13795130	CV551525	single nucleotide variant	NM_152384.3(BBS5):c.258+2T>C	Bardet-Biedl syndrome 5 [RCV000678527]\|Bardet-Biedl syndrome [RCV005091977]	pathogenic\|likely pathogenic	2	169487857	169487857	Human	2	name
13813825	CV557725	single nucleotide variant	NM_152384.3(BBS5):c.143-1G>C	BBS5-related disorder [RCV003392526]\|Bardet-Biedl syndrome 5 [RCV000763466]\|Bardet-Biedl syndrome [RCV000690428]\|not provided [RCV002281124]	pathogenic\|likely pathogenic	2	169487068	169487068	Human	2	name , trait , alternate_id
13818215	CV557727	single nucleotide variant	NM_152384.3(BBS5):c.817-1G>A	Bardet-Biedl syndrome [RCV000707557]	likely pathogenic	2	169503094	169503094	Human	1	name
14695675	CV622864	single nucleotide variant	NM_152384.3(BBS5):c.386+1G>T	Bardet-Biedl syndrome 5 [RCV000785901]	likely pathogenic	2	169488115	169488115	Human	1	name
15154603	CV689678	single nucleotide variant	NM_152384.3(BBS5):c.817-5T>G	Bardet-Biedl syndrome [RCV000867886]	benign	2	169503090	169503090	Human	1	name
15183583	CV777224	single nucleotide variant	NM_152384.3(BBS5):c.143-7C>T	Bardet-Biedl syndrome [RCV003633550]	likely benign	2	169487062	169487062	Human	1	name
21404860	CV800686	single nucleotide variant	NM_152384.3(BBS5):c.619-1G>C	BBS5-related disorder [RCV004753163]\|Bardet-Biedl syndrome 1 [RCV003229005]\|Bardet-Biedl syndrome 5 [RCV001195902]\|Bardet-Biedl syndrome [RCV001002882]\|Retinal dystrophy [RCV001073435]\|not provided [RCV001090460]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	2	169497626	169497626	Human	5	name , trait , alternate_id
26920096	CV851358	single nucleotide variant	NM_152384.3(BBS5):c.143-1G>A	Bardet-Biedl syndrome [RCV001059630]	pathogenic	2	169487068	169487068	Human	1	name
38489286	CV940665	single nucleotide variant	NM_152384.3(BBS5):c.208+5G>T	Bardet-Biedl syndrome [RCV001221653]	uncertain significance	2	169487139	169487139	Human	1	name
150512361	CV1212974	single nucleotide variant	NM_152384.3(BBS5):c.682-52A>T	not provided [RCV001598206]	benign	2	169499434	169499434	Human		name
150501889	CV1224321	duplication	NM_152384.3(BBS5):c.60-176dup	not provided [RCV001620962]	benign	2	169482074	169482075	Human		name
150485317	CV1250203	single nucleotide variant	NM_152384.3(BBS5):c.387-79A>G	not provided [RCV001673816]	benign	2	169492795	169492795	Human		name
150494973	CV1256552	single nucleotide variant	NM_152384.3(BBS5):c.900+70G>C	not provided [RCV001675517]	benign	2	169503248	169503248	Human		name
150483933	CV1263074	single nucleotide variant	NM_152384.3(BBS5):c.59+164G>A	not provided [RCV001686474]	benign	2	169479776	169479776	Human		name
150464362	CV1276374	single nucleotide variant	NM_152384.3(BBS5):c.682-84C>A	not provided [RCV001710319]	benign	2	169499402	169499402	Human		name
151822615	CV1385347	single nucleotide variant	NM_152384.3(BBS5):c.618+20T>A	Bardet-Biedl syndrome [RCV001975888]	likely benign\|uncertain significance	2	169493856	169493856	Human	1	name
151788474	CV1419861	single nucleotide variant	NM_152384.3(BBS5):c.816+12A>G	Bardet-Biedl syndrome [RCV001951805]	uncertain significance	2	169499632	169499632	Human	1	name
151855367	CV1504760	single nucleotide variant	NM_152384.3(BBS5):c.523-20C>G	Bardet-Biedl syndrome [RCV002033702]	likely benign\|uncertain significance	2	169493721	169493721	Human	1	name
152027761	CV1521021	single nucleotide variant	NM_152384.3(BBS5):c.386+16A>G	Bardet-Biedl syndrome [RCV002085238]	likely benign	2	169488130	169488130	Human	1	name
152050354	CV1533092	single nucleotide variant	NM_152384.3(BBS5):c.143-11T>C	Bardet-Biedl syndrome [RCV002166797]	likely benign	2	169487058	169487058	Human	1	name
152128743	CV1549104	single nucleotide variant	NM_152384.3(BBS5):c.523-11G>A	Bardet-Biedl syndrome [RCV002099191]	likely benign	2	169493730	169493730	Human	1	name
152140426	CV1618352	single nucleotide variant	NM_152384.3(BBS5):c.523-18C>T	Bardet-Biedl syndrome 5 [RCV002498109]\|Bardet-Biedl syndrome [RCV002156699]	likely benign	2	169493723	169493723	Human	2	name
152099172	CV1627205	single nucleotide variant	NM_152384.3(BBS5):c.209-19C>A	Bardet-Biedl syndrome [RCV002095282]	likely benign	2	169487787	169487787	Human	1	name
152077550	CV1632896	single nucleotide variant	NM_152384.3(BBS5):c.208+15T>C	Bardet-Biedl syndrome [RCV002170122]	likely benign	2	169487149	169487149	Human	1	name
152089302	CV1633976	single nucleotide variant	NM_152384.3(BBS5):c.925-15C>T	Bardet-Biedl syndrome [RCV002194087]	likely benign	2	169504466	169504466	Human	1	name
152151117	CV1658698	single nucleotide variant	NM_152384.3(BBS5):c.681+15A>G	Bardet-Biedl syndrome [RCV002139528]	likely benign	2	169497704	169497704	Human	1	name
156306751	CV1877808	single nucleotide variant	NM_152384.3(BBS5):c.142+19G>A	Bardet-Biedl syndrome [RCV003062226]	likely benign	2	169482352	169482352	Human	1	name
156370970	CV1905356	duplication	NM_152384.3(BBS5):c.258+14dup	Bardet-Biedl syndrome [RCV003092425]	benign	2	169487863	169487864	Human	1	name
156306450	CV1912584	single nucleotide variant	NM_152384.3(BBS5):c.387-18G>C	Bardet-Biedl syndrome [RCV002599422]	likely benign	2	169492856	169492856	Human	1	name
156409162	CV1954680	single nucleotide variant	NM_152384.3(BBS5):c.924+12T>A	Bardet-Biedl syndrome [RCV002586737]	likely benign	2	169504338	169504338	Human	1	name
156379168	CV1968271	single nucleotide variant	NM_152384.3(BBS5):c.682-20T>A	Bardet-Biedl syndrome [RCV002603839]	likely benign	2	169499466	169499466	Human	1	name
156147009	CV2037412	single nucleotide variant	NM_152384.3(BBS5):c.681+15A>C	Bardet-Biedl syndrome [RCV002786724]	likely benign	2	169497704	169497704	Human	1	name
156057648	CV2064956	single nucleotide variant	NM_152384.3(BBS5):c.523-10T>C	Bardet-Biedl syndrome [RCV002846653]	uncertain significance	2	169493731	169493731	Human	1	name
156011262	CV2124605	single nucleotide variant	NM_152384.3(BBS5):c.209-19C>T	Bardet-Biedl syndrome [RCV002948280]	likely benign	2	169487787	169487787	Human	1	name
155996119	CV2171600	single nucleotide variant	NM_152384.3(BBS5):c.259-13T>A	Bardet-Biedl syndrome [RCV003034552]	likely benign	2	169487974	169487974	Human	1	name
11546412	CV250389	single nucleotide variant	NM_152384.3(BBS5):c.901-48G>C	not provided [RCV001711745]\|not specified [RCV000246427]	benign\|likely benign	2	169504255	169504255	Human		name
405066295	CV2857990	single nucleotide variant	NM_152384.3(BBS5):c.387-10T>G	Bardet-Biedl syndrome [RCV003523340]	likely benign	2	169492864	169492864	Human	1	name
405078134	CV2878970	single nucleotide variant	NM_152384.3(BBS5):c.208+13G>T	Bardet-Biedl syndrome [RCV003524324]	likely benign	2	169487147	169487147	Human	1	name
404989207	CV2888946	single nucleotide variant	NM_152384.3(BBS5):c.618+12C>T	Bardet-Biedl syndrome [RCV003524868]	likely benign	2	169493848	169493848	Human	1	name
405053605	CV2891302	single nucleotide variant	NM_152384.3(BBS5):c.522+10A>G	Bardet-Biedl syndrome [RCV003522359]	likely benign	2	169493019	169493019	Human	1	name
404987541	CV2917953	single nucleotide variant	NM_152384.3(BBS5):c.681+13A>G	Bardet-Biedl syndrome [RCV003524697]	likely benign	2	169497702	169497702	Human	1	name
405059458	CV2927306	single nucleotide variant	NM_152384.3(BBS5):c.259-12T>A	Bardet-Biedl syndrome [RCV003522819]	likely benign	2	169487975	169487975	Human	1	name
405079490	CV2946889	single nucleotide variant	NM_152384.3(BBS5):c.143-12G>C	Bardet-Biedl syndrome [RCV003633766]	likely benign	2	169487057	169487057	Human	1	name
405092499	CV2991511	single nucleotide variant	NM_152384.3(BBS5):c.901-11T>G	Bardet-Biedl syndrome [RCV003634959]	likely benign	2	169504292	169504292	Human	1	name
405095810	CV3003185	deletion	NM_152384.3(BBS5):c.387-14del	Bardet-Biedl syndrome [RCV003635082]	likely benign	2	169492860	169492860	Human	1	name
405095897	CV3011461	single nucleotide variant	NM_152384.3(BBS5):c.143-19T>C	Bardet-Biedl syndrome [RCV003635160]	likely benign	2	169487050	169487050	Human	1	name
405096019	CV3011804	single nucleotide variant	NM_152384.3(BBS5):c.386+11A>G	Bardet-Biedl syndrome [RCV003635180]	likely benign	2	169488125	169488125	Human	1	name
405136301	CV3014391	single nucleotide variant	NM_152384.3(BBS5):c.386+13T>C	Bardet-Biedl syndrome [RCV003635377]	likely benign	2	169488127	169488127	Human	1	name
405072334	CV3025709	single nucleotide variant	NM_152384.3(BBS5):c.924+16T>G	Bardet-Biedl syndrome [RCV003633015]	likely benign	2	169504342	169504342	Human	1	name
405072972	CV3025750	single nucleotide variant	NM_152384.3(BBS5):c.209-17T>C	Bardet-Biedl syndrome [RCV003633038]	likely benign	2	169487789	169487789	Human	1	name
405073149	CV3028061	single nucleotide variant	NM_152384.3(BBS5):c.924+11T>G	Bardet-Biedl syndrome [RCV003633169]	likely benign	2	169504337	169504337	Human	1	name
405073138	CV3031551	single nucleotide variant	NM_152384.3(BBS5):c.618+12C>A	Bardet-Biedl syndrome [RCV003633168]	likely benign	2	169493848	169493848	Human	1	name
405082922	CV3066052	single nucleotide variant	NM_152384.3(BBS5):c.258+14A>G	Bardet-Biedl syndrome [RCV003634156]	likely benign	2	169487869	169487869	Human	1	name
405087577	CV3071959	single nucleotide variant	NM_152384.3(BBS5):c.618+10T>C	BBS5-related disorder [RCV004753719]\|Bardet-Biedl syndrome [RCV003634342]	likely benign	2	169493846	169493846	Human	2	name , trait , alternate_id
405087635	CV3080220	single nucleotide variant	NM_152384.3(BBS5):c.925-19C>G	Bardet-Biedl syndrome [RCV003634349]	likely benign	2	169504462	169504462	Human	1	name
405130857	CV3115049	single nucleotide variant	NM_152384.3(BBS5):c.258+19A>G	Bardet-Biedl syndrome [RCV003815894]	likely benign	2	169487874	169487874	Human	1	name
405137221	CV3130592	single nucleotide variant	NM_152384.3(BBS5):c.681+19T>C	Bardet-Biedl syndrome [RCV003838825]	likely benign	2	169497708	169497708	Human	1	name
405065007	CV3148546	single nucleotide variant	NM_152384.3(BBS5):c.682-16A>T	Bardet-Biedl syndrome [RCV003850502]	likely benign	2	169499470	169499470	Human	1	name
405221331	CV3157850	single nucleotide variant	NM_152384.3(BBS5):c.816+17G>A	Bardet-Biedl syndrome [RCV003863542]	likely benign	2	169499637	169499637	Human	1	name
405235706	CV3166335	duplication	NM_152384.3(BBS5):c.618+11dup	Bardet-Biedl syndrome [RCV003853784]	likely benign	2	169493846	169493847	Human	1	name
402499746	CV3170349	single nucleotide variant	NM_152384.3(BBS5):c.816+15A>T	Bardet-Biedl syndrome [RCV003877721]	likely benign	2	169499635	169499635	Human	1	name
402474204	CV3172275	single nucleotide variant	NM_152384.3(BBS5):c.386+10T>C	Bardet-Biedl syndrome [RCV003874878]	likely benign	2	169488124	169488124	Human	1	name
402516752	CV3178907	single nucleotide variant	NM_152384.3(BBS5):c.681+10T>G	Bardet-Biedl syndrome [RCV003879340]	likely benign	2	169497699	169497699	Human	1	name
405284019	CV3213480	single nucleotide variant	NM_152384.3(BBS5):c.619-35A>C	BBS5-related disorder [RCV003922063]	likely benign	2	169497592	169497592	Human		name , trait , alternate_id
408380057	CV3510184	single nucleotide variant	NM_152384.3(BBS5):c.619-25T>G	BBS5-related disorder [RCV004753918]	likely benign	2	169497602	169497602	Human		name , trait , alternate_id
408379216	CV3516410	single nucleotide variant	NM_152384.3(BBS5):c.619-19T>C	BBS5-related disorder [RCV004752601]	likely benign	2	169497608	169497608	Human		name , trait , alternate_id
597938725	CV3759937	single nucleotide variant	NM_152384.3(BBS5):c.523-14A>G	Bardet-Biedl syndrome [RCV005076859]	likely benign	2	169493727	169493727	Human	1	name
597941927	CV3769296	single nucleotide variant	NM_152384.3(BBS5):c.142+18T>C	Bardet-Biedl syndrome [RCV005118791]	likely benign	2	169482351	169482351	Human	1	name
597926835	CV3855425	single nucleotide variant	NM_152384.3(BBS5):c.924+12T>C	Bardet-Biedl syndrome [RCV005206024]	likely benign	2	169504338	169504338	Human	1	name
15183579	CV777222	single nucleotide variant	NM_152384.3(BBS5):c.143-10G>T	not provided [RCV000952498]	likely benign	2	169487059	169487059	Human		name
38488643	CV940666	single nucleotide variant	NM_152384.3(BBS5):c.817-10T>A	Bardet-Biedl syndrome [RCV001221327]	uncertain significance	2	169503085	169503085	Human	1	name
8576768	CV111136	single nucleotide variant	NM_152384.2(BBS5):c.900+303G>T	Lung cancer [RCV000091659]	uncertain significance	2	169503481	169503481	Human		name
150479393	CV1221498	single nucleotide variant	NM_152384.3(BBS5):c.618+139T>C	not provided [RCV001616577]	benign	2	169493975	169493975	Human		name
150432964	CV1231612	single nucleotide variant	NM_152384.3(BBS5):c.142+160C>A	not provided [RCV001643274]	benign	2	169482493	169482493	Human		name
150442954	CV1232504	single nucleotide variant	NM_152384.3(BBS5):c.142+143C>A	not provided [RCV001645472]	benign	2	169482476	169482476	Human		name
150485195	CV1250177	single nucleotide variant	NM_152384.3(BBS5):c.209-256G>A	not provided [RCV001673790]	benign	2	169487550	169487550	Human		name
150461526	CV1253252	single nucleotide variant	NM_152384.3(BBS5):c.387-263G>T	not provided [RCV001669581]	benign	2	169492611	169492611	Human		name
150470994	CV1258713	single nucleotide variant	NM_152384.3(BBS5):c.209-201G>T	not provided [RCV001684259]	benign	2	169487605	169487605	Human		name
150477039	CV1262445	single nucleotide variant	NM_152384.3(BBS5):c.901-236C>A	not provided [RCV001685258]	benign	2	169504067	169504067	Human		name
150460391	CV1268491	single nucleotide variant	NM_152384.3(BBS5):c.523-184G>A	not provided [RCV001693488]	benign	2	169493557	169493557	Human		name
150497044	CV1271662	single nucleotide variant	NM_152384.3(BBS5):c.900+255G>A	not provided [RCV001688963]	benign	2	169503433	169503433	Human		name
150476492	CV1279262	single nucleotide variant	NM_152384.3(BBS5):c.208+286G>T	not provided [RCV001713990]	benign	2	169487420	169487420	Human		name
8559144	CV21198	indel	BBS5, 8-BP DEL/7-BP INS, NT263	Bardet-Biedl syndrome 5 [RCV000006534]	pathogenic				Human		name
405074279	CV3053795	microsatellite	NM_152384.3(BBS5):c.143-13TG[2]	Bardet-Biedl syndrome [RCV003633341]	likely benign	2	169487056	169487057	Human		name
405075831	CV2870720	single nucleotide variant	NM_152384.3(BBS5):c.6G>C (p.Ser2=)	Bardet-Biedl syndrome [RCV003524151]	likely benign	2	169479559	169479559	Human	1	name
405085910	CV2958592	single nucleotide variant	NM_152384.3(BBS5):c.6G>A (p.Ser2=)	Bardet-Biedl syndrome [RCV003634434]	likely benign	2	169479559	169479559	Human	1	name
152144986	CV1576614	duplication	NM_152384.3(BBS5):c.142+3_142+10dup	Bardet-Biedl syndrome [RCV002101324]	likely benign	2	169482334	169482335	Human	1	name
405092263	CV2994380	single nucleotide variant	NM_152384.3(BBS5):c.18G>T (p.Ala6=)	Bardet-Biedl syndrome [RCV003634929]	likely benign	2	169479571	169479571	Human	1	name
405013069	CV3128245	duplication	NM_152384.3(BBS5):c.259-10_259-6dup	Bardet-Biedl syndrome [RCV003829125]	likely benign	2	169487975	169487976	Human	1	name
15180482	CV697155	single nucleotide variant	NM_152384.3(BBS5):c.18G>C (p.Ala6=)	BBS5-related disorder [RCV004753136]\|Bardet-Biedl syndrome [RCV000951759]	likely benign	2	169479571	169479571	Human	2	name , trait , alternate_id
127283008	CV1090063	single nucleotide variant	NM_152384.3(BBS5):c.57G>T (p.Ala19=)	Bardet-Biedl syndrome [RCV001448210]	likely benign	2	169479610	169479610	Human	1	name
127331914	CV1111560	microsatellite	NM_152384.3(BBS5):c.387-15_387-12del	Bardet-Biedl syndrome [RCV001471849]\|not provided [RCV001796508]\|not specified [RCV001796509]	benign\|likely benign	2	169492853	169492856	Human		name
127304738	CV1153878	deletion	NM_152384.3(BBS5):c.619-16_619-15del	Bardet-Biedl syndrome 5 [RCV002476818]\|Bardet-Biedl syndrome [RCV001516011]	benign\|likely benign	2	169497608	169497609	Human	2	name
152039257	CV1555261	microsatellite	NM_152384.3(BBS5):c.619-19_619-14del	BBS5-related disorder [RCV003893301]\|Bardet-Biedl syndrome [RCV002107491]	likely benign	2	169497602	169497607	Human		name , trait , alternate_id
152074064	CV1570364	deletion	NM_152384.3(BBS5):c.618+14_618+18del	Bardet-Biedl syndrome [RCV002210358]	likely benign	2	169493850	169493854	Human	1	name
152978681	CV1671734	single nucleotide variant	NM_152384.3(BBS5):c.1A>G (p.Met1Val)	Bardet-Biedl syndrome 5 [RCV002227838]	pathogenic	2	169479554	169479554	Human	1	name
11552199	CV250385	single nucleotide variant	NM_152384.3(BBS5):c.39C>G (p.Val13=)	Bardet-Biedl syndrome [RCV000467258]\|not provided [RCV004708169]\|not specified [RCV000254056]	benign	2	169479592	169479592	Human	1	name
405079207	CV2945124	single nucleotide variant	NM_152384.3(BBS5):c.54C>A (p.Ser18=)	Bardet-Biedl syndrome [RCV003633836]	likely benign	2	169479607	169479607	Human	1	name
405073584	CV3053103	single nucleotide variant	NM_152384.3(BBS5):c.45C>T (p.Phe15=)	Bardet-Biedl syndrome [RCV003633292]	likely benign	2	169479598	169479598	Human	1	name
405084642	CV3076939	single nucleotide variant	NM_152384.3(BBS5):c.54C>G (p.Ser18=)	Bardet-Biedl syndrome [RCV003634323]	likely benign	2	169479607	169479607	Human	1	name
402481569	CV3170818	single nucleotide variant	NM_152384.3(BBS5):c.1A>T (p.Met1Leu)	Bardet-Biedl syndrome 5 [RCV003988160]\|Bardet-Biedl syndrome [RCV003876021]	pathogenic\|likely pathogenic	2	169479554	169479554	Human	2	name
597676232	CV3712967	single nucleotide variant	NM_152384.3(BBS5):c.60G>A (p.Gln20=)	Bardet-Biedl syndrome 5 [RCV005030537]	uncertain significance	2	169482251	169482251	Human	1	name
597937214	CV3852167	single nucleotide variant	NM_152384.3(BBS5):c.2T>C (p.Met1Thr)	Bardet-Biedl syndrome [RCV005186764]	pathogenic	2	169479555	169479555	Human	1	name
21404344	CV800350	single nucleotide variant	NM_152384.3(BBS5):c.2T>A (p.Met1Lys)	Bardet-Biedl syndrome 5 [RCV001002712]\|Bardet-Biedl syndrome [RCV005093027]	pathogenic	2	169479555	169479555	Human	2	name
127241455	CV1059095	single nucleotide variant	NM_152384.3(BBS5):c.24G>A (p.Trp8Ter)	Bardet-Biedl syndrome 5 [RCV005023140]\|Bardet-Biedl syndrome [RCV001383653]	pathogenic\|likely pathogenic	2	169479577	169479577	Human	2	name
127272827	CV1090064	single nucleotide variant	NM_152384.3(BBS5):c.276T>C (p.Thr92=)	BBS5-related disorder [RCV003900519]\|Bardet-Biedl syndrome [RCV001442338]	likely benign	2	169488004	169488004	Human	2	name , trait , alternate_id
150541071	CV1298658	single nucleotide variant	NM_152384.3(BBS5):c.25G>A (p.Glu9Lys)	Bardet-Biedl syndrome [RCV003222342]\|not provided [RCV001760806]	uncertain significance	2	169479578	169479578	Human	1	name
151778900	CV1472292	single nucleotide variant	NM_152384.3(BBS5):c.17C>T (p.Ala6Val)	Bardet-Biedl syndrome [RCV002026070]	uncertain significance	2	169479570	169479570	Human	1	name
152116989	CV1541069	single nucleotide variant	NM_152384.3(BBS5):c.174C>G (p.Leu58=)	Bardet-Biedl syndrome [RCV002197523]	likely benign	2	169487100	169487100	Human	1	name
152166146	CV1653824	single nucleotide variant	NM_152384.3(BBS5):c.219C>T (p.Tyr73=)	Bardet-Biedl syndrome [RCV002160587]	likely benign	2	169487816	169487816	Human	1	name
156413397	CV1887884	duplication	NM_152384.3(BBS5):c.5_8dup (p.Leu4fs)	Bardet-Biedl syndrome [RCV003073272]	pathogenic	2	169479555	169479556	Human	1	name
156209840	CV2074181	single nucleotide variant	NM_152384.3(BBS5):c.24G>C (p.Trp8Cys)	Bardet-Biedl syndrome [RCV002829254]	uncertain significance	2	169479577	169479577	Human	1	name
156290838	CV2155195	single nucleotide variant	NM_152384.3(BBS5):c.17C>A (p.Ala6Glu)	Bardet-Biedl syndrome [RCV003009962]	uncertain significance	2	169479570	169479570	Human	1	name
155956574	CV2304052	single nucleotide variant	NM_152384.3(BBS5):c.27G>T (p.Glu9Asp)	Inborn genetic diseases [RCV002905617]	uncertain significance	2	169479580	169479580	Human	1	name
11544676	CV250386	single nucleotide variant	NM_152384.3(BBS5):c.108C>T (p.Ser36=)	Bardet-Biedl syndrome [RCV000468328]\|not provided [RCV004709476]\|not specified [RCV000244112]	benign	2	169482299	169482299	Human	1	name
11548294	CV250387	single nucleotide variant	NM_152384.3(BBS5):c.285C>T (p.Leu95=)	Bardet-Biedl syndrome [RCV000638379]\|not provided [RCV004709477]\|not specified [RCV000248899]	benign	2	169488013	169488013	Human	1	name
405068026	CV2896290	single nucleotide variant	NM_152384.3(BBS5):c.180C>T (p.His60=)	Bardet-Biedl syndrome [RCV003523580]	likely benign	2	169487106	169487106	Human	1	name
405079297	CV2908804	single nucleotide variant	NM_152384.3(BBS5):c.237T>C (p.Ile79=)	Bardet-Biedl syndrome [RCV003524424]	likely benign	2	169487834	169487834	Human	1	name
405081504	CV2960584	single nucleotide variant	NM_152384.3(BBS5):c.210T>C (p.Ser70=)	Bardet-Biedl syndrome [RCV003633936]	likely benign	2	169487807	169487807	Human	1	name
405094653	CV2995050	single nucleotide variant	NM_152384.3(BBS5):c.246G>A (p.Arg82=)	Bardet-Biedl syndrome [RCV003634971]	likely benign	2	169487843	169487843	Human	1	name
405092476	CV3001436	single nucleotide variant	NM_152384.3(BBS5):c.135A>G (p.Gly45=)	Bardet-Biedl syndrome [RCV003634961]	likely benign	2	169482326	169482326	Human	1	name
405073016	CV3019317	single nucleotide variant	NM_152384.3(BBS5):c.120C>A (p.Thr40=)	Bardet-Biedl syndrome [RCV003633059]	likely benign	2	169482311	169482311	Human	1	name
405136331	CV3024808	single nucleotide variant	NM_152384.3(BBS5):c.189A>T (p.Ala63=)	Bardet-Biedl syndrome [RCV003635381]	likely benign	2	169487115	169487115	Human	1	name
405136500	CV3028208	single nucleotide variant	NM_152384.3(BBS5):c.108C>A (p.Ser36=)	Bardet-Biedl syndrome [RCV003635399]	likely benign	2	169482299	169482299	Human	1	name
405073674	CV3049650	duplication	NM_152384.3(BBS5):c.54dup (p.Ala19fs)	Bardet-Biedl syndrome 5 [RCV005030216]\|Bardet-Biedl syndrome [RCV003633298]	pathogenic	2	169479605	169479606	Human	2	name
405027912	CV3129694	single nucleotide variant	NM_152384.3(BBS5):c.255C>T (p.Asn85=)	Bardet-Biedl syndrome [RCV003830292]	likely benign	2	169487852	169487852	Human	1	name
402474699	CV3182709	single nucleotide variant	NM_152384.3(BBS5):c.171T>C (p.Ile57=)	Bardet-Biedl syndrome [RCV003874952]	likely benign	2	169487097	169487097	Human	1	name
408379421	CV3517555	single nucleotide variant	NM_152384.3(BBS5):c.16G>T (p.Ala6Ser)	BBS5-related disorder [RCV004752659]	uncertain significance	2	169479569	169479569	Human		name , trait , alternate_id
597676221	CV3712966	single nucleotide variant	NM_152384.3(BBS5):c.11T>A (p.Leu4Gln)	Bardet-Biedl syndrome 5 [RCV005030536]	uncertain significance	2	169479564	169479564	Human	1	name
597952683	CV3765704	single nucleotide variant	NM_152384.3(BBS5):c.145A>C (p.Arg49=)	Bardet-Biedl syndrome [RCV005121348]	likely benign	2	169487071	169487071	Human	1	name
598261341	CV3927724	single nucleotide variant	NM_152384.3(BBS5):c.22T>C (p.Trp8Arg)	Inborn genetic diseases [RCV005300594]	uncertain significance	2	169479575	169479575	Human	1	name
15141644	CV685918	single nucleotide variant	NM_152384.3(BBS5):c.190T>C (p.Leu64=)	BBS5-related disorder [RCV003908212]\|Bardet-Biedl syndrome 5 [RCV002507486]\|Bardet-Biedl syndrome [RCV000865395]\|not specified [RCV001816971]	benign\|likely benign	2	169487116	169487116	Human	2	name , trait , alternate_id
38471005	CV942398	single nucleotide variant	NM_152384.3(BBS5):c.25G>C (p.Glu9Gln)	Bardet-Biedl syndrome [RCV001231117]	uncertain significance	2	169479578	169479578	Human	1	name
126732714	CV1023907	single nucleotide variant	NM_152384.3(BBS5):c.888G>A (p.Thr296=)	BBS5-related disorder [RCV003898334]\|Bardet-Biedl syndrome [RCV001349651]	likely benign\|uncertain significance	2	169503166	169503166	Human	2	name , trait , alternate_id
127281229	CV1068338	single nucleotide variant	NM_152384.3(BBS5):c.979T>C (p.Leu327=)	BBS5-related disorder [RCV003900407]\|Bardet-Biedl syndrome [RCV001410293]	likely benign	2	169504535	169504535	Human	2	name , trait , alternate_id
127271059	CV1090065	single nucleotide variant	NM_152384.3(BBS5):c.693T>C (p.Tyr231=)	BBS5-related disorder [RCV003900517]\|Bardet-Biedl syndrome [RCV001441676]	likely benign	2	169499497	169499497	Human	2	name , trait , alternate_id
127234867	CV1090066	single nucleotide variant	NM_152384.3(BBS5):c.885C>T (p.His295=)	Bardet-Biedl syndrome [RCV001432976]	likely benign	2	169503163	169503163	Human	1	name
127296982	CV1111562	single nucleotide variant	NM_152384.3(BBS5):c.633T>C (p.Ile211=)	Bardet-Biedl syndrome [RCV001460148]	likely benign	2	169497641	169497641	Human	1	name
127328660	CV1111563	single nucleotide variant	NM_152384.3(BBS5):c.786A>C (p.Ile262=)	BBS5-related disorder [RCV004753339]\|Bardet-Biedl syndrome [RCV001469684]	likely benign	2	169499590	169499590	Human	2	name , trait , alternate_id
127288698	CV1111564	single nucleotide variant	NM_152384.3(BBS5):c.792A>T (p.Gly264=)	BBS5-related disorder [RCV004753328]\|Bardet-Biedl syndrome [RCV001450572]	likely benign	2	169499596	169499596	Human	2	name , trait , alternate_id
127288021	CV1132452	single nucleotide variant	NM_152384.3(BBS5):c.675T>G (p.Ser225=)	Bardet-Biedl syndrome [RCV001495073]	likely benign	2	169497683	169497683	Human	1	name
127305310	CV1132453	single nucleotide variant	NM_152384.3(BBS5):c.861T>C (p.Asp287=)	Bardet-Biedl syndrome [RCV001499882]	likely benign	2	169503139	169503139	Human	1	name
152105684	CV1536796	single nucleotide variant	NM_152384.3(BBS5):c.867A>G (p.Glu289=)	Bardet-Biedl syndrome [RCV002173683]	likely benign	2	169503145	169503145	Human	1	name
152040516	CV1577598	single nucleotide variant	NM_152384.3(BBS5):c.600T>C (p.Ser200=)	BBS5-related disorder [RCV004753505]\|Bardet-Biedl syndrome [RCV002107671]	likely benign	2	169493818	169493818	Human	2	name , trait , alternate_id
152159462	CV1588090	single nucleotide variant	NM_152384.3(BBS5):c.480A>G (p.Val160=)	BBS5-related disorder [RCV003958534]\|Bardet-Biedl syndrome [RCV002180672]	likely benign	2	169492967	169492967	Human	2	name , trait , alternate_id
152059444	CV1595981	single nucleotide variant	NM_152384.3(BBS5):c.966T>G (p.Leu322=)	Bardet-Biedl syndrome [RCV002090075]	likely benign	2	169504522	169504522	Human	1	name
152036931	CV1605706	single nucleotide variant	NM_152384.3(BBS5):c.873C>T (p.Asp291=)	Bardet-Biedl syndrome [RCV002107146]	likely benign	2	169503151	169503151	Human	1	name
152107170	CV1639141	single nucleotide variant	NM_152384.3(BBS5):c.825G>A (p.Pro275=)	Bardet-Biedl syndrome [RCV002152561]	likely benign	2	169503103	169503103	Human	1	name
152160350	CV1655662	single nucleotide variant	NM_152384.3(BBS5):c.531A>G (p.Leu177=)	BBS5-related disorder [RCV003971162]\|Bardet-Biedl syndrome [RCV002203323]	likely benign	2	169493749	169493749	Human	2	name , trait , alternate_id
155796488	CV1861874	single nucleotide variant	NM_152384.3(BBS5):c.82G>T (p.Glu28Ter)	Bardet-Biedl syndrome [RCV002470156]	likely pathogenic	2	169482273	169482273	Human	1	name
155948747	CV1869241	single nucleotide variant	NM_152384.3(BBS5):c.963G>A (p.Gly321=)	BBS5-related disorder [RCV004731485]\|Bardet-Biedl syndrome [RCV003074018]	likely benign	2	169504519	169504519	Human	2	name , trait , alternate_id
156448469	CV1950752	single nucleotide variant	NM_152384.3(BBS5):c.47A>T (p.Asp16Val)	Bardet-Biedl syndrome [RCV003120031]	uncertain significance	2	169479600	169479600	Human	1	name
156181828	CV2001409	single nucleotide variant	NM_152384.3(BBS5):c.88C>T (p.Leu30Phe)	BBS5-related disorder [RCV004753572]\|Bardet-Biedl syndrome [RCV002643046]	uncertain significance	2	169482279	169482279	Human	2	name , trait , alternate_id
156015637	CV2009128	single nucleotide variant	NM_152384.3(BBS5):c.720G>A (p.Val240=)	BBS5-related disorder [RCV004753575]\|Bardet-Biedl syndrome [RCV002690749]	likely benign	2	169499524	169499524	Human	2	name , trait , alternate_id
156087561	CV2060639	single nucleotide variant	NM_152384.3(BBS5):c.34G>A (p.Asp12Asn)	Bardet-Biedl syndrome [RCV002824065]	uncertain significance	2	169479587	169479587	Human	1	name
11544794	CV250388	single nucleotide variant	NM_152384.3(BBS5):c.501T>A (p.Val167=)	Bardet-Biedl syndrome [RCV000638387]\|not provided [RCV004708170]\|not specified [RCV000244266]	benign	2	169492988	169492988	Human	1	name
329351519	CV2518060	deletion	NM_152384.3(BBS5):c.198del (p.Val67fs)	Bardet-Biedl syndrome [RCV003224781]	pathogenic	2	169487124	169487124	Human	1	name
11639214	CV265835	single nucleotide variant	NM_152384.3(BBS5):c.750C>T (p.Ile250=)	Bardet-Biedl syndrome [RCV000860685]\|not specified [RCV000316182]	benign\|likely benign\|conflicting interpretations of pathogenicity	2	169499554	169499554	Human	1	name
405065672	CV2857190	single nucleotide variant	NM_152384.3(BBS5):c.918C>A (p.Gly306=)	Bardet-Biedl syndrome [RCV003523228]	likely benign	2	169504320	169504320	Human	1	name
405065690	CV2860659	single nucleotide variant	NM_152384.3(BBS5):c.642A>G (p.Ser214=)	Bardet-Biedl syndrome [RCV003523274]	likely benign	2	169497650	169497650	Human	1	name
405065814	CV2864518	single nucleotide variant	NM_152384.3(BBS5):c.492A>C (p.Ile164=)	Bardet-Biedl syndrome [RCV003523317]	likely benign	2	169492979	169492979	Human	1	name
404989196	CV2888945	single nucleotide variant	NM_152384.3(BBS5):c.58C>T (p.Gln20Ter)	Bardet-Biedl syndrome [RCV003524867]	pathogenic	2	169479611	169479611	Human	1	name
405058143	CV2892438	single nucleotide variant	NM_152384.3(BBS5):c.999A>G (p.Leu333=)	Bardet-Biedl syndrome [RCV003522590]\|not provided [RCV005425153]	likely benign	2	169504555	169504555	Human	1	name
405067844	CV2899617	single nucleotide variant	NM_152384.3(BBS5):c.843C>T (p.Val281=)	BBS5-related disorder [RCV004753694]\|Bardet-Biedl syndrome [RCV003523484]	likely benign	2	169503121	169503121	Human	2	name , trait , alternate_id
405068959	CV2903608	single nucleotide variant	NM_152384.3(BBS5):c.708A>G (p.Lys236=)	Bardet-Biedl syndrome [RCV003523681]	likely benign	2	169499512	169499512	Human	1	name
404987163	CV2917364	single nucleotide variant	NM_152384.3(BBS5):c.381A>T (p.Val127=)	Bardet-Biedl syndrome [RCV003524622]	likely benign	2	169488109	169488109	Human	1	name
404987749	CV2924925	single nucleotide variant	NM_152384.3(BBS5):c.729A>T (p.Leu243=)	Bardet-Biedl syndrome [RCV003524719]	likely benign	2	169499533	169499533	Human	1	name
405058165	CV2925924	single nucleotide variant	NM_152384.3(BBS5):c.894T>G (p.Ala298=)	Bardet-Biedl syndrome [RCV003522635]	likely benign	2	169503172	169503172	Human	1	name
405078605	CV2936780	single nucleotide variant	NM_152384.3(BBS5):c.825G>T (p.Pro275=)	Bardet-Biedl syndrome [RCV003633756]	likely benign	2	169503103	169503103	Human	1	name
405080951	CV2945510	single nucleotide variant	NM_152384.3(BBS5):c.960G>A (p.Leu320=)	Bardet-Biedl syndrome [RCV003633859]	likely benign	2	169504516	169504516	Human	1	name
405081186	CV2950203	single nucleotide variant	NM_152384.3(BBS5):c.342T>G (p.Val114=)	Bardet-Biedl syndrome [RCV003633927]	likely benign	2	169488070	169488070	Human	1	name
405092056	CV2980321	single nucleotide variant	NM_152384.3(BBS5):c.576T>C (p.Asn192=)	Bardet-Biedl syndrome [RCV003634912]	likely benign	2	169493794	169493794	Human	1	name
405073360	CV3039925	single nucleotide variant	NM_152384.3(BBS5):c.789T>C (p.Phe263=)	Bardet-Biedl syndrome [RCV003633275]	likely benign	2	169499593	169499593	Human	1	name
405074545	CV3047326	single nucleotide variant	NM_152384.3(BBS5):c.906T>C (p.Tyr302=)	Bardet-Biedl syndrome [RCV003633362]	likely benign	2	169504308	169504308	Human	1	name
405082773	CV3058412	single nucleotide variant	NM_152384.3(BBS5):c.424T>C (p.Leu142=)	Bardet-Biedl syndrome [RCV003634077]	likely benign	2	169492911	169492911	Human	1	name
405087104	CV3071058	single nucleotide variant	NM_152384.3(BBS5):c.477T>C (p.His159=)	Bardet-Biedl syndrome [RCV003634265]	likely benign	2	169492964	169492964	Human	1	name
405170010	CV3122362	single nucleotide variant	NM_152384.3(BBS5):c.399T>C (p.Thr133=)	Bardet-Biedl syndrome [RCV003818951]	likely benign	2	169492886	169492886	Human	1	name
405013646	CV3128241	single nucleotide variant	NM_152384.3(BBS5):c.828C>T (p.Leu276=)	Bardet-Biedl syndrome [RCV003829121]	likely benign	2	169503106	169503106	Human	1	name
405096257	CV3134960	single nucleotide variant	NM_152384.3(BBS5):c.855A>G (p.Gln285=)	Bardet-Biedl syndrome 5 [RCV005030313]\|Bardet-Biedl syndrome [RCV003835112]	likely benign\|uncertain significance	2	169503133	169503133	Human	2	name
405167418	CV3153594	single nucleotide variant	NM_152384.3(BBS5):c.345T>G (p.Pro115=)	BBS5-related disorder [RCV003949057]\|Bardet-Biedl syndrome [RCV003841139]	likely benign	2	169488073	169488073	Human	2	name , trait , alternate_id
405088024	CV3167401	single nucleotide variant	NM_152384.3(BBS5):c.969A>C (p.Ala323=)	Bardet-Biedl syndrome [RCV003851982]	likely benign	2	169504525	169504525	Human	1	name
408383632	CV3507003	single nucleotide variant	NM_152384.3(BBS5):c.441T>A (p.Ile147=)	BBS5-related disorder [RCV004730771]	likely benign	2	169492928	169492928	Human		name , trait , alternate_id
408380007	CV3508598	single nucleotide variant	NM_152384.3(BBS5):c.585T>C (p.Asp195=)	BBS5-related disorder [RCV004753824]	likely benign	2	169493803	169493803	Human		name , trait , alternate_id
408380387	CV3514742	single nucleotide variant	NM_152384.3(BBS5):c.360T>G (p.Leu120=)	BBS5-related disorder [RCV004754136]	likely benign	2	169488088	169488088	Human		name , trait , alternate_id
597676240	CV3712968	single nucleotide variant	NM_152384.3(BBS5):c.77C>G (p.Pro26Arg)	Bardet-Biedl syndrome 5 [RCV005030538]	uncertain significance	2	169482268	169482268	Human	1	name
597676249	CV3712969	single nucleotide variant	NM_152384.3(BBS5):c.98G>A (p.Cys33Tyr)	Bardet-Biedl syndrome 5 [RCV005030539]	uncertain significance	2	169482289	169482289	Human	1	name
597676304	CV3712989	single nucleotide variant	NM_152384.3(BBS5):c.924G>A (p.Lys308=)	Bardet-Biedl syndrome 5 [RCV005030557]	uncertain significance	2	169504326	169504326	Human	1	name
597872304	CV3747149	single nucleotide variant	NM_152384.3(BBS5):c.729A>G (p.Leu243=)	Bardet-Biedl syndrome [RCV005068833]	likely benign	2	169499533	169499533	Human	1	name
597941699	CV3769235	single nucleotide variant	NM_152384.3(BBS5):c.918C>T (p.Gly306=)	Bardet-Biedl syndrome [RCV005118730]	likely benign	2	169504320	169504320	Human	1	name
597858410	CV3769625	single nucleotide variant	NM_152384.3(BBS5):c.528T>C (p.Asn176=)	Bardet-Biedl syndrome [RCV005105667]	likely benign	2	169493746	169493746	Human	1	name
597895794	CV3773362	single nucleotide variant	NM_152384.3(BBS5):c.357A>G (p.Arg119=)	Bardet-Biedl syndrome [RCV005111269]	likely benign	2	169488085	169488085	Human	1	name
597872534	CV3836075	single nucleotide variant	NM_152384.3(BBS5):c.624A>C (p.Ser208=)	Bardet-Biedl syndrome [RCV005176872]	likely benign	2	169497632	169497632	Human	1	name
597888794	CV3839491	single nucleotide variant	NM_152384.3(BBS5):c.486T>C (p.Asp162=)	Bardet-Biedl syndrome [RCV005179383]	likely benign	2	169492973	169492973	Human	1	name
597867962	CV3858224	duplication	NM_152384.3(BBS5):c.204dup (p.Val69fs)	Bardet-Biedl syndrome [RCV005196967]	pathogenic	2	169487129	169487130	Human	1	name
12883493	CV391630	single nucleotide variant	NM_152384.3(BBS5):c.468A>G (p.Pro156=)	BBS5-related disorder [RCV003932772]\|Bardet-Biedl syndrome 5 [RCV002496849]\|Bardet-Biedl syndrome [RCV000461699]\|not provided [RCV004711131]	benign\|likely benign	2	169492955	169492955	Human	2	name , trait , alternate_id
13435279	CV431646	single nucleotide variant	NM_152384.3(BBS5):c.900G>C (p.Val300=)	Bardet-Biedl syndrome 5 [RCV002490845]\|Bardet-Biedl syndrome [RCV001857205]\|Cone dystrophy [RCV000505083]\|Retinal dystrophy [RCV004817726]\|not specified [RCV001844180]	likely pathogenic\|likely benign\|uncertain significance	2	169503178	169503178	Human	6	name
13606533	CV516724	single nucleotide variant	NM_152384.3(BBS5):c.462G>C (p.Leu154=)	BBS5-related disorder [RCV003892446]\|Bardet-Biedl syndrome [RCV000638375]	likely benign	2	169492949	169492949	Human	2	name , trait , alternate_id
14349736	CV576215	deletion	NM_152384.3(BBS5):c.123del (p.Gly42fs)	BBS5-related disorder [RCV004753002]\|Bardet-Biedl syndrome 5 [RCV005027880]\|Bardet-Biedl syndrome [RCV000735933]	pathogenic	2	169482312	169482312	Human	2	name , trait , alternate_id
15099226	CV685919	single nucleotide variant	NM_152384.3(BBS5):c.516T>C (p.Ser172=)	BBS5-related disorder [RCV003908261]\|Bardet-Biedl syndrome 5 [RCV002501299]\|Bardet-Biedl syndrome [RCV000869865]\|not specified [RCV001816987]	likely benign	2	169493003	169493003	Human	2	name , trait , alternate_id
26900691	CV825197	single nucleotide variant	NM_152384.3(BBS5):c.32G>A (p.Arg11Gln)	BBS5-related disorder [RCV003425896]\|Bardet-Biedl syndrome 5 [RCV002481953]\|Bardet-Biedl syndrome [RCV001049639]\|Inborn genetic diseases [RCV002553720]\|not provided [RCV001759778]\|not specified [RCV001819765]	uncertain significance	2	169479585	169479585	Human	3	name , trait , alternate_id
26923748	CV825198	single nucleotide variant	NM_152384.3(BBS5):c.92T>C (p.Ile31Thr)	BBS5-related disorder [RCV003425906]\|Bardet-Biedl syndrome 5 [RCV002479378]\|Bardet-Biedl syndrome [RCV001064559]	uncertain significance	2	169482283	169482283	Human	2	name , trait , alternate_id
126771606	CV1003450	single nucleotide variant	NM_152384.3(BBS5):c.106T>A (p.Ser36Thr)	Bardet-Biedl syndrome [RCV001323259]	uncertain significance	2	169482297	169482297	Human	1	name
126771236	CV1003451	single nucleotide variant	NM_152384.3(BBS5):c.133G>A (p.Gly45Arg)	Bardet-Biedl syndrome [RCV001323043]	uncertain significance	2	169482324	169482324	Human	1	name
126773559	CV1023906	single nucleotide variant	NM_152384.3(BBS5):c.211G>A (p.Val71Ile)	BBS5-related disorder [RCV004753292]\|Bardet-Biedl syndrome 5 [RCV002499694]\|Bardet-Biedl syndrome [RCV001346252]\|Inborn genetic diseases [RCV003169683]	likely benign\|uncertain significance	2	169487808	169487808	Human	3	name , trait , alternate_id
127292829	CV1111565	single nucleotide variant	NM_152384.3(BBS5):c.1023T>C (p.Ser341=)	Bardet-Biedl syndrome [RCV001459046]	likely benign	2	169504579	169504579	Human	1	name
150541068	CV1298656	single nucleotide variant	NM_152384.3(BBS5):c.149T>C (p.Leu50Pro)	not provided [RCV001760804]	uncertain significance	2	169487075	169487075	Human		name
151348555	CV1324090	deletion	NM_152384.3(BBS5):c.898del (p.Val300fs)	Bardet-Biedl syndrome 5 [RCV001808003]	likely pathogenic	2	169503176	169503176	Human	1	name
151780400	CV1341754	single nucleotide variant	NM_152384.3(BBS5):c.197G>A (p.Arg66Lys)	Bardet-Biedl syndrome 5 [RCV005023360]\|Bardet-Biedl syndrome [RCV001897184]	uncertain significance	2	169487123	169487123	Human	2	name
151767188	CV1348693	single nucleotide variant	NM_152384.3(BBS5):c.266G>A (p.Arg89Gln)	Bardet-Biedl syndrome [RCV001895978]\|not provided [RCV005232699]	uncertain significance	2	169487994	169487994	Human	1	name
151874165	CV1356499	deletion	NM_152384.3(BBS5):c.406del (p.Met136fs)	Bardet-Biedl syndrome [RCV001925601]	pathogenic	2	169492890	169492890	Human	1	name
151741735	CV1386707	deletion	NM_152384.3(BBS5):c.655del (p.Ala219fs)	BBS5-related disorder [RCV004753416]\|Bardet-Biedl syndrome [RCV001893329]	pathogenic	2	169497663	169497663	Human	2	name , trait , alternate_id
151736718	CV1391554	single nucleotide variant	NM_152384.3(BBS5):c.287A>G (p.Tyr96Cys)	Bardet-Biedl syndrome [RCV002041795]	uncertain significance	2	169488015	169488015	Human	1	name
151870832	CV1413400	single nucleotide variant	NM_152384.3(BBS5):c.226A>G (p.Ile76Val)	Bardet-Biedl syndrome 1 [RCV003229079]\|Bardet-Biedl syndrome [RCV001998311]	uncertain significance	2	169487823	169487823	Human	2	name
151867162	CV1422544	single nucleotide variant	NM_152384.3(BBS5):c.185T>C (p.Leu62Ser)	BBS5-related disorder [RCV004753417]\|Bardet-Biedl syndrome 5 [RCV005023390]\|Bardet-Biedl syndrome [RCV001884679]	uncertain significance	2	169487111	169487111	Human	2	name , trait , alternate_id
151850527	CV1461738	single nucleotide variant	NM_152384.3(BBS5):c.229T>A (p.Leu77Met)	BBS5-related disorder [RCV003418228]\|Bardet-Biedl syndrome 5 [RCV005023496]\|Bardet-Biedl syndrome [RCV001978867]\|not provided [RCV004694025]	uncertain significance	2	169487826	169487826	Human	2	name , trait , alternate_id
155926592	CV2099615	single nucleotide variant	NM_152384.3(BBS5):c.293T>C (p.Leu98Pro)	Bardet-Biedl syndrome [RCV002903604]	uncertain significance	2	169488021	169488021	Human	1	name
8559145	CV21199	single nucleotide variant	NM_152384.3(BBS5):c.177G>A (p.Trp59Ter)	Bardet-Biedl syndrome 5 [RCV000006535]\|Bardet-Biedl syndrome [RCV003633480]	pathogenic	2	169487103	169487103	Human	2	name
8597061	CV21200	single nucleotide variant	NM_152384.3(BBS5):c.214G>A (p.Gly72Ser)	Bardet-Biedl syndrome 5 [RCV000006536]\|Bardet-Biedl syndrome [RCV000787535]	pathogenic\|likely pathogenic	2	169487811	169487811	Human	2	name
156105782	CV2149388	single nucleotide variant	NM_152384.3(BBS5):c.283C>G (p.Leu95Val)	Bardet-Biedl syndrome [RCV003021211]	uncertain significance	2	169488011	169488011	Human	1	name
329351391	CV2476277	single nucleotide variant	NM_152384.3(BBS5):c.164T>C (p.Leu55Ser)	Bardet-Biedl syndrome [RCV003222518]	pathogenic	2	169487090	169487090	Human	1	name
401920107	CV2798439	single nucleotide variant	NM_152384.3(BBS5):c.221A>C (p.Asn74Thr)	BBS5-related disorder [RCV003402375]\|Inborn genetic diseases [RCV004963631]	uncertain significance	2	169487818	169487818	Human	2	name , trait , alternate_id
405081496	CV2947189	single nucleotide variant	NM_152384.3(BBS5):c.1005A>G (p.Gly335=)	Bardet-Biedl syndrome [RCV003633784]	likely benign	2	169504561	169504561	Human	1	name
405080549	CV2950754	duplication	NM_152384.3(BBS5):c.562dup (p.Val188fs)	Bardet-Biedl syndrome [RCV003633959]	pathogenic	2	169493779	169493780	Human	1	name
405002011	CV3184095	deletion	NM_152384.3(BBS5):c.444del (p.Asn149fs)	Bardet-Biedl syndrome 5 [RCV005030355]\|Bardet-Biedl syndrome [RCV003882678]	pathogenic\|likely pathogenic	2	169492931	169492931	Human	2	name
407500304	CV3417577	single nucleotide variant	NM_152384.3(BBS5):c.116A>G (p.Asp39Gly)	Inborn genetic diseases [RCV004606994]	uncertain significance	2	169482307	169482307	Human	1	name
408383161	CV3504747	single nucleotide variant	NM_152384.3(BBS5):c.235A>G (p.Ile79Val)	BBS5-related disorder [RCV004730417]	uncertain significance	2	169487832	169487832	Human		name , trait , alternate_id
408385117	CV3505579	single nucleotide variant	NM_152384.3(BBS5):c.193T>C (p.Ser65Pro)	BBS5-related disorder [RCV004732357]	uncertain significance	2	169487119	169487119	Human		name , trait , alternate_id
408379946	CV3507460	single nucleotide variant	NM_152384.3(BBS5):c.143G>A (p.Gly48Asp)	BBS5-related disorder [RCV004753770]	uncertain significance	2	169487069	169487069	Human		name , trait , alternate_id
408379127	CV3515439	single nucleotide variant	NM_152384.3(BBS5):c.196A>G (p.Arg66Gly)	BBS5-related disorder [RCV004752554]	uncertain significance	2	169487122	169487122	Human		name , trait , alternate_id
597676257	CV3712970	single nucleotide variant	NM_152384.3(BBS5):c.112G>C (p.Glu38Gln)	Bardet-Biedl syndrome 5 [RCV005030540]	uncertain significance	2	169482303	169482303	Human	1	name
597676276	CV3712973	single nucleotide variant	NM_152384.3(BBS5):c.291A>G (p.Ile97Met)	Bardet-Biedl syndrome 5 [RCV005030542]	uncertain significance	2	169488019	169488019	Human	1	name
597677207	CV3712979	duplication	NM_152384.3(BBS5):c.469dup (p.Gln157fs)	Bardet-Biedl syndrome 5 [RCV005030548]	likely pathogenic	2	169492955	169492956	Human	1	name
12891912	CV391629	single nucleotide variant	NM_152384.3(BBS5):c.203A>G (p.Asn68Ser)	BBS5-related disorder [RCV003960040]\|Bardet-Biedl syndrome 5 [RCV002475893]\|Bardet-Biedl syndrome [RCV000477454]	uncertain significance	2	169487129	169487129	Human	2	name , trait , alternate_id
616938299	CV4013022	single nucleotide variant	NM_152384.3(BBS5):c.148C>A (p.Leu50Ile)	not provided [RCV005410489]	uncertain significance	2	169487074	169487074	Human		name
13215280	CV427940	duplication	NM_152384.3(BBS5):c.966dup (p.Ala323fs)	Bardet-Biedl syndrome 5 [RCV000502319]	pathogenic\|likely pathogenic	2	169504520	169504521	Human	1	name
13606518	CV516815	single nucleotide variant	NM_152384.3(BBS5):c.265C>T (p.Arg89Ter)	Bardet-Biedl syndrome 5 [RCV001250528]\|Bardet-Biedl syndrome [RCV000638356]\|not provided [RCV001548296]	pathogenic	2	169487993	169487993	Human	2	name
14349737	CV576216	single nucleotide variant	NM_152384.3(BBS5):c.166A>G (p.Arg56Gly)	Bardet-Biedl syndrome [RCV000735934]\|not provided [RCV003165941]	pathogenic\|likely pathogenic	2	169487092	169487092	Human	1	name
13831521	CV582019	deletion	NM_152384.3(BBS5):c.959del (p.Leu320fs)	Bardet-Biedl syndrome 5 [RCV005027889]\|not provided [RCV000722201]	likely pathogenic\|uncertain significance	2	169504515	169504515	Human	1	name
126732008	CV988137	single nucleotide variant	NM_152384.3(BBS5):c.110T>C (p.Ile37Thr)	BBS5-related disorder [RCV003938610]\|Bardet-Biedl syndrome 5 [RCV002486176]\|Bardet-Biedl syndrome [RCV001304009]	uncertain significance	2	169482301	169482301	Human	2	name , trait , alternate_id
126757182	CV1003452	single nucleotide variant	NM_152384.3(BBS5):c.308G>A (p.Ser103Asn)	BBS5-related disorder [RCV004753280]\|Bardet-Biedl syndrome 5 [RCV002499616]\|Bardet-Biedl syndrome [RCV001317412]\|Inborn genetic diseases [RCV003166827]	uncertain significance	2	169488036	169488036	Human	3	name , trait , alternate_id
126739561	CV1003453	single nucleotide variant	NM_152384.3(BBS5):c.332C>T (p.Thr111Ile)	BBS5-related disorder [RCV004753278]\|Bardet-Biedl syndrome 5 [RCV002476456]\|Bardet-Biedl syndrome [RCV001314258]\|Inborn genetic diseases [RCV002545068]	uncertain significance	2	169488060	169488060	Human	3	name , trait , alternate_id
126769055	CV1003454	single nucleotide variant	NM_152384.3(BBS5):c.347G>A (p.Gly116Glu)	Bardet-Biedl syndrome [RCV001321726]	uncertain significance	2	169488075	169488075	Human	1	name
126770873	CV1003455	single nucleotide variant	NM_152384.3(BBS5):c.752A>G (p.Asn251Ser)	Bardet-Biedl syndrome [RCV001322832]	uncertain significance	2	169499556	169499556	Human	1	name
126769896	CV1003456	single nucleotide variant	NM_152384.3(BBS5):c.913G>T (p.Asp305Tyr)	Bardet-Biedl syndrome [RCV001322241]	uncertain significance	2	169504315	169504315	Human	1	name
126738198	CV1019492	single nucleotide variant	NM_152384.3(BBS5):c.472G>A (p.Glu158Lys)	Bardet-Biedl syndrome 5 [RCV001335470]\|Bardet-Biedl syndrome [RCV003523093]	uncertain significance	2	169492959	169492959	Human	2	name
8643409	CV102392	single nucleotide variant	NM_152384.3(BBS5):c.584A>G (p.Asp195Gly)	Bardet-Biedl syndrome [RCV001081706]\|not provided [RCV000766388]\|not specified [RCV000249419]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	169493802	169493802	Human	1	name
8643410	CV102393	single nucleotide variant	NM_152384.3(BBS5):c.620G>A (p.Arg207His)	Bardet-Biedl syndrome [RCV000230046]\|not provided [RCV001699119]\|not specified [RCV000082651]	benign\|likely benign	2	169497628	169497628	Human	1	name
126910092	CV1040805	single nucleotide variant	NM_152384.3(BBS5):c.536C>T (p.Thr179Ile)	BBS5-related disorder [RCV003394009]\|Bardet-Biedl syndrome [RCV001368768]	uncertain significance	2	169493754	169493754	Human	2	name , trait , alternate_id
126917744	CV1040806	single nucleotide variant	NM_152384.3(BBS5):c.674C>G (p.Ser225Cys)	Bardet-Biedl syndrome [RCV001361341]	uncertain significance	2	169497682	169497682	Human	1	name
126911489	CV1040807	single nucleotide variant	NM_152384.3(BBS5):c.748A>C (p.Ile250Leu)	Bardet-Biedl syndrome [RCV001369237]	uncertain significance	2	169499552	169499552	Human	1	name
126908428	CV1040808	single nucleotide variant	NM_152384.3(BBS5):c.764A>G (p.Lys255Arg)	Bardet-Biedl syndrome [RCV001367849]	uncertain significance	2	169499568	169499568	Human	1	name
8646962	CV106482	single nucleotide variant	NM_152384.3(BBS5):c.551A>G (p.Asn184Ser)	Bardet-Biedl syndrome [RCV001257073]\|Cone dystrophy [RCV000504860]\|Retinal dystrophy [RCV004815182]\|not provided [RCV000087001]\|not specified [RCV000152843]	likely pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	2	169493769	169493769	Human	5	name
150408156	CV1199882	single nucleotide variant	NM_152384.3(BBS5):c.425T>G (p.Leu142Ter)	Bardet-Biedl syndrome 5 [RCV001780411]\|Bardet-Biedl syndrome [RCV001866093]\|not provided [RCV001580050]	pathogenic	2	169492912	169492912	Human	2	name
151348595	CV1324111	single nucleotide variant	NM_152384.3(BBS5):c.791G>T (p.Gly264Val)	Bardet-Biedl syndrome 5 [RCV001808024]	uncertain significance	2	169499595	169499595	Human	1	name
151845357	CV1359722	single nucleotide variant	NM_152384.3(BBS5):c.887C>T (p.Thr296Met)	BBS5-related disorder [RCV004753481]\|Bardet-Biedl syndrome [RCV002032323]\|Inborn genetic diseases [RCV004970833]	uncertain significance	2	169503165	169503165	Human	3	name , trait , alternate_id
151759869	CV1361791	single nucleotide variant	NM_152384.3(BBS5):c.325A>G (p.Ile109Val)	Bardet-Biedl syndrome 5 [RCV002490278]\|Bardet-Biedl syndrome [RCV001928381]	uncertain significance	2	169488053	169488053	Human	2	name
151710512	CV1365493	single nucleotide variant	NM_152384.3(BBS5):c.826C>T (p.Leu276Phe)	Bardet-Biedl syndrome [RCV001907900]	uncertain significance	2	169503104	169503104	Human	1	name
151877570	CV1368881	single nucleotide variant	NM_152384.3(BBS5):c.569A>C (p.His190Pro)	Bardet-Biedl syndrome 5 [RCV002479708]\|Bardet-Biedl syndrome [RCV001999125]	uncertain significance	2	169493787	169493787	Human	2	name
151781877	CV1369742	single nucleotide variant	NM_152384.3(BBS5):c.776C>T (p.Ala259Val)	Bardet-Biedl syndrome [RCV001930514]	uncertain significance	2	169499580	169499580	Human	1	name
151736980	CV1388041	single nucleotide variant	NM_152384.3(BBS5):c.902C>T (p.Ala301Val)	Bardet-Biedl syndrome [RCV002005410]	uncertain significance	2	169504304	169504304	Human	1	name
151769039	CV1388047	single nucleotide variant	NM_152384.3(BBS5):c.449A>G (p.Lys150Arg)	Bardet-Biedl syndrome [RCV001970999]	uncertain significance	2	169492936	169492936	Human	1	name
151816852	CV1388497	single nucleotide variant	NM_152384.3(BBS5):c.664A>G (p.Ile222Val)	Bardet-Biedl syndrome [RCV001992379]	uncertain significance	2	169497672	169497672	Human	1	name
151892767	CV1398963	single nucleotide variant	NM_152384.3(BBS5):c.875C>G (p.Ser292Cys)	Bardet-Biedl syndrome [RCV001944464]	uncertain significance	2	169503153	169503153	Human	1	name
151857857	CV1402097	single nucleotide variant	NM_152384.3(BBS5):c.568C>T (p.His190Tyr)	Bardet-Biedl syndrome [RCV002017401]	uncertain significance	2	169493786	169493786	Human	1	name
151822056	CV1415627	single nucleotide variant	NM_152384.3(BBS5):c.788T>C (p.Phe263Ser)	Bardet-Biedl syndrome [RCV001900981]	uncertain significance	2	169499592	169499592	Human	1	name
151755684	CV1417815	single nucleotide variant	NM_152384.3(BBS5):c.824C>T (p.Pro275Leu)	BBS5-related disorder [RCV004753408]\|Bardet-Biedl syndrome 5 [RCV002503434]\|Bardet-Biedl syndrome [RCV001894775]	uncertain significance	2	169503102	169503102	Human	2	name , trait , alternate_id
151718064	CV1419573	single nucleotide variant	NM_152384.3(BBS5):c.839C>A (p.Thr280Lys)	Bardet-Biedl syndrome [RCV001965528]	uncertain significance	2	169503117	169503117	Human	1	name
151818482	CV1420793	single nucleotide variant	NM_152384.3(BBS5):c.925C>T (p.Gln309Ter)	Bardet-Biedl syndrome [RCV002049554]	pathogenic	2	169504481	169504481	Human	1	name
151855793	CV1421643	single nucleotide variant	NM_152384.3(BBS5):c.364A>G (p.Thr122Ala)	Bardet-Biedl syndrome [RCV001937930]	uncertain significance	2	169488092	169488092	Human	1	name
151864416	CV1431543	single nucleotide variant	NM_152384.3(BBS5):c.668A>T (p.Glu223Val)	BBS5-related disorder [RCV004753433]\|Bardet-Biedl syndrome 5 [RCV002479456]\|Bardet-Biedl syndrome [RCV001924423]\|Inborn genetic diseases [RCV003167274]	uncertain significance	2	169497676	169497676	Human	3	name , trait , alternate_id
151743704	CV1431785	single nucleotide variant	NM_152384.3(BBS5):c.649G>A (p.Gly217Ser)	Bardet-Biedl syndrome [RCV001926725]	uncertain significance	2	169497657	169497657	Human	1	name
151805451	CV1440584	single nucleotide variant	NM_152384.3(BBS5):c.347G>C (p.Gly116Ala)	Bardet-Biedl syndrome [RCV001932696]	uncertain significance	2	169488075	169488075	Human	1	name
151883934	CV1451445	single nucleotide variant	NM_152384.3(BBS5):c.520C>T (p.Gln174Ter)	Bardet-Biedl syndrome [RCV001941617]	pathogenic	2	169493007	169493007	Human	1	name
151876805	CV1460096	single nucleotide variant	NM_152384.3(BBS5):c.770A>G (p.Tyr257Cys)	BBS5-related disorder [RCV003923415]\|Bardet-Biedl syndrome 5 [RCV003448448]\|Bardet-Biedl syndrome [RCV002036355]\|Inborn genetic diseases [RCV005301094]	uncertain significance	2	169499574	169499574	Human	3	name , trait , alternate_id
151826170	CV1467239	single nucleotide variant	NM_152384.3(BBS5):c.790G>A (p.Gly264Arg)	Bardet-Biedl syndrome 5 [RCV005023418]\|Bardet-Biedl syndrome [RCV001901352]	uncertain significance	2	169499594	169499594	Human	2	name
151809224	CV1476372	single nucleotide variant	NM_152384.3(BBS5):c.598A>G (p.Ser200Gly)	Bardet-Biedl syndrome [RCV001899780]	uncertain significance	2	169493816	169493816	Human	1	name
151787297	CV1495559	single nucleotide variant	NM_152384.3(BBS5):c.829G>A (p.Glu277Lys)	BBS5-related disorder [RCV003418342]\|Bardet-Biedl syndrome 5 [RCV005025660]\|Bardet-Biedl syndrome [RCV002026855]\|Inborn genetic diseases [RCV004970805]	uncertain significance	2	169503107	169503107	Human	3	name , trait , alternate_id
156045648	CV1867474	single nucleotide variant	NM_152384.3(BBS5):c.377C>T (p.Ala126Val)	not provided [RCV002509946]	uncertain significance	2	169488105	169488105	Human		name
10045306	CV189109	single nucleotide variant	NM_152384.3(BBS5):c.532G>A (p.Gly178Arg)	Bardet-Biedl syndrome 5 [RCV003984827]\|Bardet-Biedl syndrome [RCV000256439]\|not provided [RCV000171498]	likely pathogenic\|no classifications from unflagged records	2	169493750	169493750	Human	2	name
156094886	CV1895843	single nucleotide variant	NM_152384.3(BBS5):c.607T>C (p.Tyr203His)	Bardet-Biedl syndrome [RCV003080364]	uncertain significance	2	169493825	169493825	Human	1	name
156418026	CV1914324	single nucleotide variant	NM_152384.3(BBS5):c.658C>T (p.Leu220Phe)	Bardet-Biedl syndrome [RCV002611200]	uncertain significance	2	169497666	169497666	Human	1	name
156040297	CV1918485	single nucleotide variant	NM_152384.3(BBS5):c.603A>G (p.Ile201Met)	Bardet-Biedl syndrome [RCV002620228]	uncertain significance	2	169493821	169493821	Human	1	name
156417799	CV1920465	single nucleotide variant	NM_152384.3(BBS5):c.740T>G (p.Val247Gly)	Bardet-Biedl syndrome [RCV002610963]	uncertain significance	2	169499544	169499544	Human	1	name
156410669	CV1929019	single nucleotide variant	NM_152384.3(BBS5):c.670A>C (p.Ser224Arg)	Bardet-Biedl syndrome [RCV002607940]	uncertain significance	2	169497678	169497678	Human	1	name
156389000	CV1955141	single nucleotide variant	NM_152384.3(BBS5):c.619C>T (p.Arg207Cys)	Bardet-Biedl syndrome [RCV002583705]	uncertain significance	2	169497627	169497627	Human	1	name
156389082	CV1955150	single nucleotide variant	NM_152384.3(BBS5):c.890A>T (p.Asp297Val)	Bardet-Biedl syndrome [RCV002583713]	uncertain significance	2	169503168	169503168	Human	1	name
156262103	CV1960698	single nucleotide variant	NM_152384.3(BBS5):c.365C>A (p.Thr122Asn)	Bardet-Biedl syndrome [RCV002576880]\|Inborn genetic diseases [RCV004603201]	uncertain significance	2	169488093	169488093	Human	2	name
156226315	CV1991542	single nucleotide variant	NM_152384.3(BBS5):c.799T>G (p.Tyr267Asp)	BBS5-related disorder [RCV003926426]\|Bardet-Biedl syndrome [RCV002626630]	uncertain significance	2	169499603	169499603	Human	2	name , trait , alternate_id
156081360	CV2022862	single nucleotide variant	NM_152384.3(BBS5):c.844G>T (p.Glu282Ter)	Bardet-Biedl syndrome [RCV002760635]	pathogenic	2	169503122	169503122	Human	1	name
156185660	CV2033835	single nucleotide variant	NM_152384.3(BBS5):c.452A>C (p.Gln151Pro)	Bardet-Biedl syndrome [RCV002765751]	uncertain significance	2	169492939	169492939	Human	1	name
156131420	CV2036579	single nucleotide variant	NM_152384.3(BBS5):c.479T>C (p.Val160Ala)	Bardet-Biedl syndrome 5 [RCV005027961]\|Bardet-Biedl syndrome [RCV002786186]	uncertain significance	2	169492966	169492966	Human	2	name
156143843	CV2044620	single nucleotide variant	NM_152384.3(BBS5):c.353C>G (p.Pro118Arg)	Bardet-Biedl syndrome [RCV002801054]	uncertain significance	2	169488081	169488081	Human	1	name
156288357	CV2047084	single nucleotide variant	NM_152384.3(BBS5):c.896T>C (p.Phe299Ser)	Bardet-Biedl syndrome [RCV002770660]\|Inborn genetic diseases [RCV004966109]	uncertain significance	2	169503174	169503174	Human	2	name
155977938	CV2085465	single nucleotide variant	NM_152384.3(BBS5):c.413G>C (p.Arg138Pro)	Bardet-Biedl syndrome [RCV002863624]	uncertain significance	2	169492900	169492900	Human	1	name
8559143	CV21197	single nucleotide variant	NM_152384.3(BBS5):c.425T>A (p.Leu142Ter)	Bardet-Biedl syndrome 5 [RCV000006533]	pathogenic	2	169492912	169492912	Human	1	name
8597062	CV21201	single nucleotide variant	NM_152384.3(BBS5):c.547A>G (p.Thr183Ala)	Bardet-Biedl syndrome 5 [RCV000006537]	pathogenic	2	169493765	169493765	Human	1	name
156373924	CV2123903	single nucleotide variant	NM_152384.3(BBS5):c.623C>T (p.Ser208Leu)	Bardet-Biedl syndrome [RCV002942551]	uncertain significance	2	169497631	169497631	Human	1	name
156143149	CV2134201	single nucleotide variant	NM_152384.3(BBS5):c.428G>A (p.Arg143Lys)	Bardet-Biedl syndrome 5 [RCV005028084]\|Bardet-Biedl syndrome [RCV002982387]	uncertain significance	2	169492915	169492915	Human	2	name
156249619	CV2168987	single nucleotide variant	NM_152384.3(BBS5):c.714T>A (p.Asp238Glu)	Bardet-Biedl syndrome [RCV003026292]	uncertain significance	2	169499518	169499518	Human	1	name
156335700	CV2360517	single nucleotide variant	NM_152384.3(BBS5):c.715C>G (p.Pro239Ala)	Inborn genetic diseases [RCV002673851]	uncertain significance	2	169499519	169499519	Human	1	name
156092398	CV2389573	single nucleotide variant	NM_152384.3(BBS5):c.794T>A (p.Val265Asp)	Inborn genetic diseases [RCV002784395]	uncertain significance	2	169499598	169499598	Human	1	name
401889324	CV2759774	single nucleotide variant	NM_152384.3(BBS5):c.499G>A (p.Val167Ile)	Inborn genetic diseases [RCV003353839]	uncertain significance	2	169492986	169492986	Human	1	name
401940301	CV2839102	duplication	NM_152384.3(BBS5):c.420dup (p.Lys141Ter)	Bardet-Biedl syndrome 5 [RCV003448659]	pathogenic	2	169492903	169492904	Human	1	name
408385029	CV3044325	indel	NM_152384.3(BBS5):c.143-6_143-3delinsAAA	BBS5-related disorder [RCV004732327]	uncertain significance	2	169487063	169487066	Human		name , trait , alternate_id
405705832	CV3301634	single nucleotide variant	NM_152384.3(BBS5):c.736T>G (p.Ser246Ala)	Inborn genetic diseases [RCV004426061]	uncertain significance	2	169499540	169499540	Human	1	name
408384581	CV3504197	single nucleotide variant	NM_152384.3(BBS5):c.665T>G (p.Ile222Arg)	BBS5-related disorder [RCV004731874]	uncertain significance	2	169497673	169497673	Human		name , trait , alternate_id
408384921	CV3506404	single nucleotide variant	NM_152384.3(BBS5):c.419T>G (p.Phe140Cys)	BBS5-related disorder [RCV004732180]	uncertain significance	2	169492906	169492906	Human		name , trait , alternate_id
408380197	CV3511202	single nucleotide variant	NM_152384.3(BBS5):c.814A>C (p.Lys272Gln)	BBS5-related disorder [RCV004753974]	uncertain significance	2	169499618	169499618	Human		name , trait , alternate_id
408380304	CV3513258	single nucleotide variant	NM_152384.3(BBS5):c.380T>C (p.Val127Ala)	BBS5-related disorder [RCV004754074]	uncertain significance	2	169488108	169488108	Human		name , trait , alternate_id
408379139	CV3515533	single nucleotide variant	NM_152384.3(BBS5):c.298A>G (p.Lys100Glu)	BBS5-related disorder [RCV004752558]	uncertain significance	2	169488026	169488026	Human		name , trait , alternate_id
408379278	CV3516850	single nucleotide variant	NM_152384.3(BBS5):c.917G>T (p.Gly306Val)	BBS5-related disorder [RCV004752626]	uncertain significance	2	169504319	169504319	Human		name , trait , alternate_id
408379276	CV3517881	single nucleotide variant	NM_152384.3(BBS5):c.722A>G (p.Glu241Gly)	BBS5-related disorder [RCV004752666]	uncertain significance	2	169499526	169499526	Human		name , trait , alternate_id
408394278	CV3521835	single nucleotide variant	NM_152384.3(BBS5):c.964C>T (p.Leu322Phe)	Bardet-Biedl syndrome 5 [RCV004764634]	uncertain significance	2	169504520	169504520	Human	1	name
597626623	CV3642962	single nucleotide variant	NM_152384.3(BBS5):c.901G>A (p.Ala301Thr)	Inborn genetic diseases [RCV004965166]	uncertain significance	2	169504303	169504303	Human	1	name
597626626	CV3642963	single nucleotide variant	NM_152384.3(BBS5):c.785T>C (p.Ile262Thr)	Inborn genetic diseases [RCV004965167]	uncertain significance	2	169499589	169499589	Human	1	name
597676285	CV3712974	single nucleotide variant	NM_152384.3(BBS5):c.339G>C (p.Leu113Phe)	Bardet-Biedl syndrome 5 [RCV005030543]	uncertain significance	2	169488067	169488067	Human	1	name
597676294	CV3712975	single nucleotide variant	NM_152384.3(BBS5):c.356G>T (p.Arg119Ile)	Bardet-Biedl syndrome 5 [RCV005030544]	uncertain significance	2	169488084	169488084	Human	1	name
597677002	CV3712976	single nucleotide variant	NM_152384.3(BBS5):c.361T>C (p.Phe121Leu)	Bardet-Biedl syndrome 5 [RCV005030545]	uncertain significance	2	169488089	169488089	Human	1	name
597676992	CV3712977	single nucleotide variant	NM_152384.3(BBS5):c.370G>A (p.Val124Met)	Bardet-Biedl syndrome 5 [RCV005030546]	uncertain significance	2	169488098	169488098	Human	1	name
597676975	CV3712980	single nucleotide variant	NM_152384.3(BBS5):c.613C>T (p.Gln205Ter)	Bardet-Biedl syndrome 5 [RCV005030549]	likely pathogenic	2	169493831	169493831	Human	1	name
597676531	CV3712981	single nucleotide variant	NM_152384.3(BBS5):c.661G>T (p.Val221Phe)	Bardet-Biedl syndrome 5 [RCV005030550]	uncertain significance	2	169497669	169497669	Human	1	name
597676523	CV3712982	single nucleotide variant	NM_152384.3(BBS5):c.674C>T (p.Ser225Phe)	Bardet-Biedl syndrome 5 [RCV005030551]	uncertain significance	2	169497682	169497682	Human	1	name
597676377	CV3712983	single nucleotide variant	NM_152384.3(BBS5):c.793G>A (p.Val265Ile)	Bardet-Biedl syndrome 5 [RCV005030552]	uncertain significance	2	169499597	169499597	Human	1	name
597677171	CV3712984	single nucleotide variant	NM_152384.3(BBS5):c.807G>A (p.Met269Ile)	Bardet-Biedl syndrome 5 [RCV005030553]	uncertain significance	2	169499611	169499611	Human	1	name
597676367	CV3712986	single nucleotide variant	NM_152384.3(BBS5):c.861T>G (p.Asp287Glu)	Bardet-Biedl syndrome 5 [RCV005030554]	uncertain significance	2	169503139	169503139	Human	1	name
597677150	CV3712987	single nucleotide variant	NM_152384.3(BBS5):c.879T>A (p.Asp293Glu)	Bardet-Biedl syndrome 5 [RCV005030555]	uncertain significance	2	169503157	169503157	Human	1	name
597677137	CV3712988	single nucleotide variant	NM_152384.3(BBS5):c.898G>T (p.Val300Leu)	Bardet-Biedl syndrome 5 [RCV005030556]	uncertain significance	2	169503176	169503176	Human	1	name
597677120	CV3712990	single nucleotide variant	NM_152384.3(BBS5):c.937G>A (p.Glu313Lys)	Bardet-Biedl syndrome 5 [RCV005030558]	uncertain significance	2	169504493	169504493	Human	1	name
597972876	CV3790793	single nucleotide variant	NM_152384.3(BBS5):c.808G>T (p.Glu270Ter)	Bardet-Biedl syndrome [RCV005143008]	pathogenic	2	169499612	169499612	Human	1	name
597956904	CV3818088	single nucleotide variant	NM_152384.3(BBS5):c.623C>G (p.Ser208Ter)	Bardet-Biedl syndrome [RCV005162539]	pathogenic	2	169497631	169497631	Human	1	name
597950443	CV3818990	single nucleotide variant	NM_152384.3(BBS5):c.649G>T (p.Gly217Cys)	Bardet-Biedl syndrome [RCV005161060]	uncertain significance	2	169497657	169497657	Human	1	name
597834697	CV3827754	single nucleotide variant	NM_152384.3(BBS5):c.718G>A (p.Val240Met)	Bardet-Biedl syndrome [RCV005170844]	uncertain significance	2	169499522	169499522	Human	1	name
12884468	CV391635	single nucleotide variant	NM_152384.3(BBS5):c.751A>G (p.Asn251Asp)	BBS5-related disorder [RCV003972762]\|Bardet-Biedl syndrome 5 [RCV000765535]\|Bardet-Biedl syndrome [RCV000463506]\|not provided [RCV001090461]\|not specified [RCV001821295]	likely benign\|uncertain significance	2	169499555	169499555	Human	2	name , trait , alternate_id
13435274	CV431645	single nucleotide variant	NM_152384.3(BBS5):c.412C>T (p.Arg138Cys)	BBS5-related disorder [RCV003403181]\|Cone dystrophy [RCV000504629]	likely pathogenic	2	169492899	169492899	Human	3	name , trait , alternate_id
13478508	CV443055	single nucleotide variant	NM_152384.3(BBS5):c.753T>A (p.Asn251Lys)	not provided [RCV000520689]	uncertain significance	2	169499557	169499557	Human		name
13809066	CV558907	single nucleotide variant	NM_152384.3(BBS5):c.542T>C (p.Phe181Ser)	BBS5-related disorder [RCV003403628]\|Bardet-Biedl syndrome 5 [RCV005027872]\|Bardet-Biedl syndrome [RCV000701933]	uncertain significance	2	169493760	169493760	Human	2	name , trait , alternate_id
8623879	CV78957	single nucleotide variant	NM_152384.3(BBS5):c.413G>A (p.Arg138His)	Bardet-Biedl syndrome 5 [RCV005025111]\|Bardet-Biedl syndrome [RCV000058870]	pathogenic\|likely pathogenic	2	169492900	169492900	Human	2	name
26919718	CV825199	single nucleotide variant	NM_152384.3(BBS5):c.567G>A (p.Trp189Ter)	Bardet-Biedl syndrome 5 [RCV005029641]\|Bardet-Biedl syndrome [RCV001059256]	pathogenic\|likely pathogenic	2	169493785	169493785	Human	2	name
26886240	CV825200	single nucleotide variant	NM_152384.3(BBS5):c.593A>G (p.Asn198Ser)	Bardet-Biedl syndrome 5 [RCV002468116]\|Bardet-Biedl syndrome [RCV001044081]\|Inborn genetic diseases [RCV002552544]	likely benign\|uncertain significance	2	169493811	169493811	Human	3	name
38474271	CV922405	single nucleotide variant	NM_152384.3(BBS5):c.475C>T (p.His159Tyr)	BBS5-related disorder [RCV004753234]\|Bardet-Biedl syndrome 5 [RCV002480704]\|Bardet-Biedl syndrome [RCV001214674]	uncertain significance	2	169492962	169492962	Human	2	name , trait , alternate_id
38463988	CV930970	single nucleotide variant	NM_152384.3(BBS5):c.808G>A (p.Glu270Lys)	BBS5-related disorder [RCV004753226]\|Bardet-Biedl syndrome [RCV001201486]	uncertain significance	2	169499612	169499612	Human	2	name , trait , alternate_id
38477739	CV930971	single nucleotide variant	NM_152384.3(BBS5):c.814A>G (p.Lys272Glu)	Bardet-Biedl syndrome [RCV001205222]	uncertain significance	2	169499618	169499618	Human	1	name
38468628	CV930972	single nucleotide variant	NM_152384.3(BBS5):c.935G>A (p.Arg312His)	BBS5-related disorder [RCV004753227]\|Bardet-Biedl syndrome 5 [RCV005029746]\|Bardet-Biedl syndrome [RCV001202262]	uncertain significance	2	169504491	169504491	Human	2	name , trait , alternate_id
38462081	CV942399	duplication	NM_152384.3(BBS5):c.303dup (p.Asn102Ter)	Bardet-Biedl syndrome 5 [RCV002491729]\|Bardet-Biedl syndrome [RCV001229656]	pathogenic\|likely pathogenic	2	169488030	169488031	Human	2	name
38489943	CV942400	single nucleotide variant	NM_152384.3(BBS5):c.365C>T (p.Thr122Ile)	Bardet-Biedl syndrome [RCV001238625]\|Inborn genetic diseases [RCV004963270]	uncertain significance	2	169488093	169488093	Human	2	name
38489211	CV942401	single nucleotide variant	NM_152384.3(BBS5):c.844G>A (p.Glu282Lys)	BBS5-related disorder [RCV004753248]\|Bardet-Biedl syndrome 5 [RCV002480778]\|Bardet-Biedl syndrome [RCV001238317]	uncertain significance	2	169503122	169503122	Human	2	name , trait , alternate_id
38464405	CV952784	single nucleotide variant	NM_152384.3(BBS5):c.689G>A (p.Gly230Glu)	Bardet-Biedl syndrome [RCV001247388]	uncertain significance	2	169499493	169499493	Human	1	name
126731666	CV988138	single nucleotide variant	NM_152384.3(BBS5):c.313C>T (p.Arg105Cys)	Bardet-Biedl syndrome [RCV001294426]	uncertain significance	2	169488041	169488041	Human	1	name
151710069	CV1487182	single nucleotide variant	NM_152384.3(BBS5):c.1001A>G (p.Gln334Arg)	Bardet-Biedl syndrome [RCV001889184]	uncertain significance	2	169504557	169504557	Human	1	name
156054197	CV2027514	single nucleotide variant	NM_152384.3(BBS5):c.1009T>C (p.Trp337Arg)	Bardet-Biedl syndrome [RCV002736609]	uncertain significance	2	169504565	169504565	Human	1	name
155915213	CV2149785	single nucleotide variant	NM_152384.3(BBS5):c.1003G>C (p.Gly335Arg)	Bardet-Biedl syndrome [RCV003012552]	uncertain significance	2	169504559	169504559	Human	1	name
597677110	CV3712992	single nucleotide variant	NM_152384.3(BBS5):c.1000C>T (p.Gln334Ter)	Bardet-Biedl syndrome 5 [RCV005030559]	uncertain significance	2	169504556	169504556	Human	1	name
13832505	CV583000	deletion	NM_152384.3(BBS5):c.184_185del (p.Leu62fs)	not provided [RCV000723194]	uncertain significance	2	169487109	169487110	Human		name
151728539	CV1388648	deletion	NM_152384.3(BBS5):c.977_978del (p.Lys326fs)	Bardet-Biedl syndrome [RCV001966872]	uncertain significance	2	169504532	169504533	Human	1	name
10045307	CV189110	microsatellite	NM_152384.3(BBS5):c.952GAA[1] (p.Glu319del)	not provided [RCV000171499]	likely pathogenic	2	169504507	169504509	Human		name
156366518	CV1928924	deletion	NM_152384.3(BBS5):c.944_960del (p.Val315fs)	Bardet-Biedl syndrome 5 [RCV005028280]\|Bardet-Biedl syndrome [RCV002633055]	pathogenic\|likely pathogenic	2	169504497	169504513	Human	2	name
127248695	CV1059096	insertion	NM_152384.3(BBS5):c.559_560insGA (p.Ile187fs)	Bardet-Biedl syndrome 5 [RCV001526710]	pathogenic	2	169493776	169493777	Human	1	name
151712100	CV1374413	indel	NM_152384.3(BBS5):c.571_572delinsTA (p.Ala191Ter)	Bardet-Biedl syndrome [RCV001908223]	pathogenic	2	169493789	169493790	Human		name
405070780	CV3020221	indel	NM_152384.3(BBS5):c.556_557delinsTA (p.Arg186Ter)	Bardet-Biedl syndrome [RCV003633119]	pathogenic	2	169493774	169493775	Human		name
126738202	CV1019493	deletion	NM_152384.3(BBS5):c.709del (p.Lys236_Ile237insTer)	Bardet-Biedl syndrome 5 [RCV001335471]\|Bardet-Biedl syndrome [RCV002546737]	pathogenic	2	169499510	169499510	Human	2	name
243051710	CV2416724	duplication	NM_152384.3(BBS5):c.550_552dup (p.Asn184_Val185insAsn)	Bardet-Biedl syndrome [RCV003150848]	pathogenic	2	169493767	169493768	Human	1	name

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