Bbs2 Variant Search Result - Rat Genome Database

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8558162	CV19621	variation	BBS2, THR560ILE	Bardet-biedl syndrome 2/4, digenic [RCV000004844]	pathogenic				Human		name
8558156	CV19613	variation	BBS2, ASP170FS, TER171	Bardet-biedl syndrome 1/2, digenic [RCV000004836]	pathogenic				Human		name
8558157	CV19614	variation	BBS2, CYS210FS, TER246	Bardet-Biedl syndrome 2 [RCV000004837]	pathogenic				Human		name
8558161	CV19620	variation	BBS2, LEU168FS, TER170	BARDET-BIEDL SYNDROME 2/6, DIGENIC [RCV000004843]	pathogenic				Human		name
151356231	CV1328995	single nucleotide variant	NM_031885.5(BBS2):c.-2T>G	BBS2-related disorder [RCV004536344]\|Bardet-Biedl syndrome 2 [RCV002489883]\|not provided [RCV003325583]\|not specified [RCV001822584]	likely benign\|uncertain significance	16	56519864	56519864	Human	1	name , alternate_id
597750363	CV3705093	single nucleotide variant	NM_031885.5(BBS2):c.-9G>A	Bardet-Biedl syndrome 2 [RCV005015655]	uncertain significance	16	56519871	56519871	Human	1	name
8558160	CV19619	deletion	NM_031885.5(BBS2):c.472del	Bardet-Biedl syndrome 2 [RCV002504748]\|Bardet-Biedl syndrome [RCV001390312]\|Bardet-biedl syndrome 1/2, digenic [RCV000004842]	pathogenic\|likely pathogenic	16	56510921	56510921	Human	3	name
11544529	CV255821	single nucleotide variant	NM_031885.5(BBS2):c.*13C>T	Bardet-Biedl syndrome 2 [RCV000370033]\|not provided [RCV000586782]\|not specified [RCV000243914]	benign\|likely benign	16	56484748	56484748	Human	1	name
11548295	CV255827	single nucleotide variant	NM_031885.5(BBS2):c.-40T>C	Bardet-Biedl syndrome 2 [RCV000402587]\|Retinitis pigmentosa 74 [RCV001526787]\|not provided [RCV001668592]\|not specified [RCV000248900]	benign\|likely benign	16	56519902	56519902	Human	2	name
11552039	CV255828	single nucleotide variant	NM_031885.5(BBS2):c.-42T>G	Bardet-Biedl syndrome 2 [RCV000308331]\|Retinitis pigmentosa 74 [RCV001526786]\|not provided [RCV001711735]\|not specified [RCV000253850]	benign\|likely benign	16	56519904	56519904	Human	2	name
11657805	CV325839	single nucleotide variant	NM_031885.5(BBS2):c.-67C>G	Bardet-Biedl syndrome 2 [RCV000344473]	uncertain significance	16	56519929	56519929	Human	1	name
11618566	CV335449	single nucleotide variant	NM_031885.5(BBS2):c.*91C>T	Bardet-Biedl syndrome 2 [RCV000315494]	uncertain significance	16	56484670	56484670	Human	1	name
11621317	CV343446	single nucleotide variant	NM_031885.5(BBS2):c.-22C>T	Bardet-Biedl syndrome 2 [RCV000347250]	uncertain significance	16	56519884	56519884	Human	1	name
14690293	CV621544	single nucleotide variant	NM_031885.5(BBS2):c.-14A>G	not specified [RCV000780958]	uncertain significance	16	56519876	56519876	Human		name
28887844	CV875519	single nucleotide variant	NM_031885.5(BBS2):c.*34A>G	Bardet-Biedl syndrome 2 [RCV001119756]\|not provided [RCV004693743]	uncertain significance	16	56484727	56484727	Human	1	name
11634619	CV325841	single nucleotide variant	NM_031885.5(BBS2):c.-147G>T	Bardet-Biedl syndrome 2 [RCV000264605]\|Bardet-Biedl syndrome 2 [RCV002487414]	uncertain significance	16	56520009	56520009	Human	1	name
11618691	CV325842	single nucleotide variant	NM_031885.3(BBS2):c.-190G>C	Bardet-Biedl syndrome 2 [RCV000316742]\|Bardet-Biedl syndrome 2 [RCV002487415]	uncertain significance	16	56520052	56520052	Human	1	name
11614408	CV325843	single nucleotide variant	NM_031885.3(BBS2):c.-199A>T	Bardet-Biedl syndrome 2 [RCV000276801]	likely benign\|uncertain significance	16	56520061	56520061	Human	1	name
11663241	CV335458	single nucleotide variant	NM_031885.5(BBS2):c.-133C>T	Bardet-Biedl syndrome 2 [RCV000394091]	uncertain significance	16	56519995	56519995	Human	1	name
11659596	CV335466	single nucleotide variant	NM_031885.5(BBS2):c.-146G>A	Bardet-Biedl syndrome [RCV000359677]	uncertain significance	16	56520008	56520008	Human	1	name
11635066	CV335473	single nucleotide variant	NM_031885.5(BBS2):c.-161G>A	Bardet-Biedl syndrome 2 [RCV000301012]	uncertain significance	16	56520023	56520023	Human	1	name
11622069	CV335477	single nucleotide variant	NM_031885.3(BBS2):c.-177C>T	Bardet-Biedl syndrome 2 [RCV000355772]	uncertain significance	16	56520039	56520039	Human	1	name
11612650	CV341921	single nucleotide variant	NM_031885.3(BBS2):c.-178C>T	Bardet-Biedl syndrome 2 [RCV000261498]	uncertain significance	16	56520040	56520040	Human	1	name
11619981	CV341924	single nucleotide variant	NM_031885.3(BBS2):c.-225C>T	Bardet-Biedl syndrome 2 [RCV000331692]	benign\|likely benign	16	56520087	56520087	Human	1	name
11625242	CV343423	single nucleotide variant	NM_031885.5(BBS2):c.*316A>G	Bardet-Biedl syndrome 2 [RCV000396206]	benign\|uncertain significance	16	56484445	56484445	Human	1	name
11617532	CV343447	single nucleotide variant	NM_031885.5(BBS2):c.-137C>G	Bardet-Biedl syndrome 2 [RCV000304911]\|not provided [RCV001642994]	benign\|likely benign	16	56519999	56519999	Human	1	name
11623322	CV343450	single nucleotide variant	NM_031885.3(BBS2):c.-191G>T	Bardet-Biedl syndrome 2 [RCV000371224]\|not provided [RCV001653566]	benign\|likely benign	16	56520053	56520053	Human	1	name
11666118	CV353343	single nucleotide variant	NM_031885.3(BBS2):c.-242T>C	Bardet-Biedl syndrome [RCV000317329]\|not provided [RCV001613254]	benign	16	56520104	56520104	Human	1	name
28874023	CV875528	single nucleotide variant	NM_031885.5(BBS2):c.-118C>T	Bardet-Biedl syndrome 2 [RCV001115271]	uncertain significance	16	56519980	56519980	Human	1	name
28883398	CV875529	single nucleotide variant	NM_031885.5(BBS2):c.-163C>T	Bardet-Biedl syndrome 2 [RCV001118429]\|Bardet-Biedl syndrome 2 [RCV002505693]	uncertain significance	16	56520025	56520025	Human	1	name
28888488	CV875530	single nucleotide variant	NM_031885.3(BBS2):c.-208G>A	Bardet-Biedl syndrome 2 [RCV001119950]	uncertain significance	16	56520070	56520070	Human	1	name
126735055	CV1000941	duplication	NM_031885.5(BBS2):c.534+2dup	not provided [RCV001311450]	uncertain significance	16	56510856	56510857	Human		name
126769155	CV1012234	single nucleotide variant	NM_031885.5(BBS2):c.718-3C>T	BBS2-related disorder [RCV004531111]\|Bardet-Biedl syndrome 2 [RCV001836308]\|Bardet-Biedl syndrome [RCV001321785]	likely benign\|uncertain significance	16	56506039	56506039	Human	2	name , alternate_id
127245156	CV1056323	single nucleotide variant	NM_031885.5(BBS2):c.612+1G>T	Bardet-Biedl syndrome [RCV001377369]	likely pathogenic	16	56509956	56509956	Human	1	name
127267837	CV1063683	single nucleotide variant	NM_031885.5(BBS2):c.613-1G>C	Bardet-Biedl syndrome 2 [RCV001831382]\|Bardet-Biedl syndrome [RCV001382032]	pathogenic	16	56506225	56506225	Human	2	name
127283499	CV1082158	single nucleotide variant	NM_031885.5(BBS2):c.941-8C>T	Bardet-Biedl syndrome [RCV001411857]	likely benign	16	56502464	56502464	Human	1	name
127282841	CV1082162	deletion	NM_031885.5(BBS2):c.535-6del	Bardet-Biedl syndrome [RCV001411416]	likely benign	16	56510040	56510040	Human	1	name
127238285	CV1082163	single nucleotide variant	NM_031885.5(BBS2):c.535-9C>T	Bardet-Biedl syndrome [RCV001392445]	likely benign	16	56510043	56510043	Human	1	name
127266978	CV1082164	single nucleotide variant	NM_031885.5(BBS2):c.534+7G>T	Bardet-Biedl syndrome [RCV001403984]	likely benign	16	56510852	56510852	Human	1	name
127283716	CV1103962	single nucleotide variant	NM_031885.5(BBS2):c.718-9C>A	Bardet-Biedl syndrome [RCV001448691]	likely benign	16	56506045	56506045	Human	1	name
127271011	CV1103963	single nucleotide variant	NM_031885.5(BBS2):c.535-6C>T	Bardet-Biedl syndrome [RCV001430799]	likely benign	16	56510040	56510040	Human	1	name
127239483	CV1103964	single nucleotide variant	NM_031885.5(BBS2):c.535-8C>T	Bardet-Biedl syndrome [RCV001433978]	likely benign	16	56510042	56510042	Human	1	name
127291001	CV1125348	single nucleotide variant	NM_031885.5(BBS2):c.941-6G>A	BBS2-related disorder [RCV004733339]\|Bardet-Biedl syndrome 2 [RCV002501643]\|Bardet-Biedl syndrome [RCV001475932]	likely benign	16	56502462	56502462	Human	2	name , alternate_id
127332461	CV1125354	single nucleotide variant	NM_031885.5(BBS2):c.535-7C>T	Bardet-Biedl syndrome [RCV001472227]\|not specified [RCV005408918]	likely benign	16	56510041	56510041	Human	1	name
127289618	CV1146261	single nucleotide variant	NM_031885.5(BBS2):c.941-8C>G	BBS2-related disorder [RCV004733348]\|Bardet-Biedl syndrome 2 [RCV002501703]\|Bardet-Biedl syndrome [RCV001495691]	likely benign	16	56502464	56502464	Human	2	name , alternate_id
127334499	CV1146264	single nucleotide variant	NM_031885.5(BBS2):c.718-4T>G	Bardet-Biedl syndrome [RCV001490850]	likely benign	16	56506040	56506040	Human	1	name
127302673	CV1146271	single nucleotide variant	NM_031885.5(BBS2):c.117+7G>A	BBS2-related disorder [RCV004540420]\|Bardet-Biedl syndrome 2 [RCV002488281]\|Bardet-Biedl syndrome [RCV001478996]	likely benign	16	56519739	56519739	Human	2	name , alternate_id
151349336	CV1170317	single nucleotide variant	NM_031885.5(BBS2):c.535-1G>C	not provided [RCV001814528]	likely pathogenic	16	56510035	56510035	Human		name
150438717	CV1286932	single nucleotide variant	NM_031885.5(BBS2):c.940+3A>C	Bardet-Biedl syndrome [RCV002538666]\|Retinitis pigmentosa [RCV001724847]	uncertain significance	16	56502670	56502670	Human	3	name
151857776	CV1347475	single nucleotide variant	NM_031885.5(BBS2):c.804+1G>T	Bardet-Biedl syndrome [RCV002033989]	likely pathogenic	16	56505949	56505949	Human	1	name
151874839	CV1369535	single nucleotide variant	NM_031885.5(BBS2):c.718-2A>G	BBS2-related disorder [RCV004733457]\|Bardet-Biedl syndrome [RCV002036128]	pathogenic\|likely pathogenic	16	56506038	56506038	Human	2	name , alternate_id
151768582	CV1387970	single nucleotide variant	NM_031885.5(BBS2):c.117+1G>A	Bardet-Biedl syndrome [RCV001970957]	likely pathogenic	16	56519745	56519745	Human	1	name
151789305	CV1399613	single nucleotide variant	NM_031885.5(BBS2):c.118-6T>A	Bardet-Biedl syndrome [RCV001916658]	uncertain significance	16	56514686	56514686	Human	1	name
151847707	CV1439719	single nucleotide variant	NM_031885.5(BBS2):c.471+3A>G	Bardet-Biedl syndrome [RCV002016156]	uncertain significance	16	56511156	56511156	Human	1	name
151787721	CV1471398	single nucleotide variant	NM_031885.5(BBS2):c.471+1G>C	Bardet-Biedl syndrome [RCV001972726]	pathogenic	16	56511158	56511158	Human	1	name
152168502	CV1558768	single nucleotide variant	NM_031885.5(BBS2):c.117+8C>G	BBS2-related disorder [RCV004729085]\|Bardet-Biedl syndrome [RCV002142470]	likely benign	16	56519738	56519738	Human	2	name , alternate_id
152025811	CV1586561	single nucleotide variant	NM_031885.5(BBS2):c.534+9G>T	Bardet-Biedl syndrome [RCV002184944]	likely benign	16	56510850	56510850	Human	1	name
152102599	CV1591298	single nucleotide variant	NM_031885.5(BBS2):c.117+8C>T	Bardet-Biedl syndrome [RCV002195740]	likely benign	16	56519738	56519738	Human	1	name
152155383	CV1629542	single nucleotide variant	NM_031885.5(BBS2):c.472-6T>C	Bardet-Biedl syndrome [RCV002202577]	likely benign	16	56510927	56510927	Human	1	name
152130901	CV1635233	single nucleotide variant	NM_031885.5(BBS2):c.804+7T>G	Bardet-Biedl syndrome [RCV002099473]	likely benign	16	56505943	56505943	Human	1	name
152113970	CV1650987	deletion	NM_031885.5(BBS2):c.941-4del	Bardet-Biedl syndrome [RCV002153417]	likely benign	16	56502460	56502460	Human	1	name
152114572	CV1659657	single nucleotide variant	NM_031885.5(BBS2):c.717+7A>G	Bardet-Biedl syndrome [RCV002080715]	likely benign	16	56506113	56506113	Human	1	name
156198596	CV1897326	single nucleotide variant	NM_031885.5(BBS2):c.345+4A>G	Bardet-Biedl syndrome [RCV002574662]	uncertain significance	16	56514449	56514449	Human	1	name
156321005	CV1897836	single nucleotide variant	NM_031885.5(BBS2):c.612+7A>G	Bardet-Biedl syndrome [RCV002579239]	likely benign	16	56509950	56509950	Human	1	name
8558159	CV19618	single nucleotide variant	NM_031885.5(BBS2):c.118-1G>C	Bardet-Biedl syndrome 2 [RCV000004841]	pathogenic	16	56514681	56514681	Human	1	name
156385535	CV1998026	single nucleotide variant	NM_031885.5(BBS2):c.117+9T>C	Bardet-Biedl syndrome [RCV002653964]	likely benign	16	56519737	56519737	Human	1	name
156117168	CV2035639	single nucleotide variant	NM_031885.5(BBS2):c.345+4A>C	Bardet-Biedl syndrome [RCV002785639]	uncertain significance	16	56514449	56514449	Human	1	name
155968693	CV2152385	single nucleotide variant	NM_031885.5(BBS2):c.117+6C>G	Bardet-Biedl syndrome [RCV003015828]	uncertain significance	16	56519740	56519740	Human	1	name
156030148	CV2156359	single nucleotide variant	NM_031885.5(BBS2):c.717+1G>T	Bardet-Biedl syndrome 2 [RCV005019559]\|Bardet-Biedl syndrome [RCV003018640]	pathogenic\|likely pathogenic	16	56506119	56506119	Human	2	name
156247920	CV2174399	single nucleotide variant	NM_031885.5(BBS2):c.613-1G>T	Bardet-Biedl syndrome [RCV003043683]	pathogenic	16	56506225	56506225	Human	1	name
156235158	CV2180704	single nucleotide variant	NM_031885.5(BBS2):c.534+5G>T	Bardet-Biedl syndrome [RCV003043238]	uncertain significance	16	56510854	56510854	Human	1	name
401946373	CV2833743	single nucleotide variant	NM_031885.5(BBS2):c.940+1G>A	Bardet-Biedl syndrome 2 [RCV003465053]\|Bardet-Biedl syndrome 2 [RCV005021985]	likely pathogenic	16	56502672	56502672	Human	1	name
401946522	CV2833748	single nucleotide variant	NM_031885.5(BBS2):c.535-1G>A	Bardet-Biedl syndrome 2 [RCV003465058]\|Bardet-Biedl syndrome [RCV003523199]	likely pathogenic	16	56510035	56510035	Human	2	name
401946715	CV2833750	single nucleotide variant	NM_031885.5(BBS2):c.118-2A>C	Bardet-Biedl syndrome 2 [RCV003465060]\|Bardet-Biedl syndrome [RCV003523200]	likely pathogenic	16	56514682	56514682	Human	2	name
401946382	CV2833754	single nucleotide variant	NM_031885.5(BBS2):c.346-1G>C	Bardet-Biedl syndrome 2 [RCV003465064]	likely pathogenic	16	56511285	56511285	Human	1	name
401946531	CV2833755	single nucleotide variant	NM_031885.5(BBS2):c.941-1G>A	Bardet-Biedl syndrome 2 [RCV003465065]	likely pathogenic	16	56502457	56502457	Human	1	name
401946534	CV2833756	single nucleotide variant	NM_031885.5(BBS2):c.534+2T>C	Bardet-Biedl syndrome 2 [RCV003465066]	likely pathogenic	16	56510857	56510857	Human	1	name
404992091	CV2883850	single nucleotide variant	NM_031885.5(BBS2):c.346-5C>T	Bardet-Biedl syndrome [RCV003525175]	likely benign	16	56511289	56511289	Human	1	name
404988122	CV2918137	single nucleotide variant	NM_031885.5(BBS2):c.118-1G>T	Bardet-Biedl syndrome [RCV003524758]	likely pathogenic	16	56514681	56514681	Human	1	name
405060310	CV2930506	single nucleotide variant	NM_031885.5(BBS2):c.345+1G>A	Bardet-Biedl syndrome 2 [RCV005014819]\|Bardet-Biedl syndrome [RCV003522912]	likely pathogenic	16	56514452	56514452	Human	2	name
405086282	CV2955230	single nucleotide variant	NM_031885.5(BBS2):c.941-6G>T	Bardet-Biedl syndrome [RCV003634464]	likely benign	16	56502462	56502462	Human	1	name
405089530	CV2975589	single nucleotide variant	NM_031885.5(BBS2):c.534+9G>A	Bardet-Biedl syndrome [RCV003634643]	likely benign	16	56510850	56510850	Human	1	name
405091161	CV2979076	duplication	NM_031885.5(BBS2):c.613-5dup	Bardet-Biedl syndrome [RCV003634840]	benign	16	56506228	56506229	Human	1	name
405092670	CV3002105	single nucleotide variant	NM_031885.5(BBS2):c.345+8T>C	Bardet-Biedl syndrome [RCV003634991]	likely benign	16	56514445	56514445	Human	1	name
405069910	CV3019192	single nucleotide variant	NM_031885.5(BBS2):c.118-8T>G	Bardet-Biedl syndrome [RCV003633054]	likely benign	16	56514688	56514688	Human	1	name
402464539	CV3177064	single nucleotide variant	NM_031885.5(BBS2):c.941-2A>G	Bardet-Biedl syndrome 2 [RCV004573374]\|Bardet-Biedl syndrome [RCV003872695]	likely pathogenic	16	56502458	56502458	Human	2	name
405288594	CV3193584	single nucleotide variant	NM_031885.5(BBS2):c.472-8A>G	BBS2-related disorder [RCV004542619]	likely benign	16	56510929	56510929	Human	1	name , trait , alternate_id
405287180	CV3205586	single nucleotide variant	NM_031885.5(BBS2):c.805-9T>C	BBS2-related disorder [RCV004545581]	likely benign	16	56502817	56502817	Human	1	name , trait , alternate_id
405290333	CV3221501	single nucleotide variant	NM_031885.5(BBS2):c.804+6T>A	BBS2-related disorder [RCV004540749]	likely benign	16	56505944	56505944	Human	1	name , trait , alternate_id
405691138	CV3227428	single nucleotide variant	NM_031885.5(BBS2):c.118-2A>G	Bardet-Biedl syndrome 2 [RCV003991772]\|Bardet-Biedl syndrome 2 [RCV005015113]	likely pathogenic	16	56514682	56514682	Human	1	name
11661309	CV325835	single nucleotide variant	NM_031885.5(BBS2):c.534+7G>C	Bardet-Biedl syndrome 2 [RCV000673826]\|Bardet-Biedl syndrome [RCV002056502]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	56510852	56510852	Human	2	name
405870647	CV3399865	single nucleotide variant	NM_031885.5(BBS2):c.612+1G>A	Bardet-Biedl syndrome 2 [RCV004574013]	pathogenic	16	56509956	56509956	Human	1	name
408367999	CV3509312	single nucleotide variant	NM_031885.5(BBS2):c.717+4A>G	BBS2-related disorder [RCV004733749]	uncertain significance	16	56506116	56506116	Human	1	name , trait , alternate_id
597750279	CV3705078	single nucleotide variant	NM_031885.5(BBS2):c.472-2A>C	Bardet-Biedl syndrome 2 [RCV005015641]	likely pathogenic	16	56510923	56510923	Human	1	name
597750284	CV3705079	single nucleotide variant	NM_031885.5(BBS2):c.471+5G>A	Bardet-Biedl syndrome 2 [RCV005015642]	uncertain significance	16	56511154	56511154	Human	1	name
597938848	CV3852919	single nucleotide variant	NM_031885.5(BBS2):c.471+7A>G	Bardet-Biedl syndrome [RCV005187320]	likely benign	16	56511152	56511152	Human	1	name
8602251	CV39507	single nucleotide variant	NM_031885.5(BBS2):c.472-2A>G	BBS2-related disorder [RCV004532399]\|Bardet-Biedl syndrome 2 [RCV000023507]\|Bardet-Biedl syndrome [RCV001852022]	pathogenic	16	56510923	56510923	Human	2	name , alternate_id
13522453	CV491275	single nucleotide variant	NM_031885.5(BBS2):c.535-2A>G	Bardet-Biedl syndrome [RCV003633517]\|not provided [RCV000591758]	pathogenic\|likely pathogenic	16	56510036	56510036	Human	1	name
13786381	CV547756	single nucleotide variant	NM_031885.5(BBS2):c.941-1G>T	Bardet-Biedl syndrome 2 [RCV000672782]\|Bardet-Biedl syndrome [RCV001861814]	pathogenic\|likely pathogenic	16	56502457	56502457	Human	2	name
13791435	CV547759	single nucleotide variant	NM_031885.5(BBS2):c.717+2T>G	Bardet-Biedl syndrome 2 [RCV000667457]\|Bardet-Biedl syndrome [RCV002530712]	pathogenic\|likely pathogenic	16	56506118	56506118	Human	2	name
13782914	CV547812	single nucleotide variant	NM_031885.5(BBS2):c.534+1G>T	Bardet-Biedl syndrome 2 [RCV000669469]\|Bardet-Biedl syndrome 2 [RCV000762968]\|Bardet-Biedl syndrome [RCV000694960]\|Retinal dystrophy [RCV001075332]\|not provided [RCV001784258]	pathogenic\|likely pathogenic	16	56510858	56510858	Human	4	name
13792227	CV548042	single nucleotide variant	NM_031885.5(BBS2):c.717+1G>A	Bardet-Biedl syndrome 2 [RCV000668445]\|Bardet-Biedl syndrome 2 [RCV005019126]\|Bardet-Biedl syndrome [RCV003523007]\|not provided [RCV001784253]	pathogenic\|likely pathogenic	16	56506119	56506119	Human	2	name
13789831	CV548504	single nucleotide variant	NM_031885.5(BBS2):c.941-2A>C	Bardet-Biedl syndrome 2 [RCV000674711]\|Bardet-Biedl syndrome [RCV001216723]\|Retinal dystrophy [RCV004817911]	pathogenic\|likely pathogenic	16	56502458	56502458	Human	4	name
13788799	CV548506	deletion	NM_031885.5(BBS2):c.940+1del	BBS2-related disorder [RCV004732999]\|Bardet-Biedl syndrome 2 [RCV000674159]\|Bardet-Biedl syndrome 2 [RCV005019163]\|Bardet-Biedl syndrome [RCV002532158]	pathogenic\|likely pathogenic	16	56502672	56502672	Human	2	name , alternate_id
13791341	CV548514	single nucleotide variant	NM_031885.5(BBS2):c.471+1G>A	Bardet-Biedl syndrome 2 [RCV000667351]\|Bardet-Biedl syndrome [RCV003523006]	pathogenic\|likely pathogenic	16	56511158	56511158	Human	2	name
14695695	CV622912	single nucleotide variant	NM_031885.5(BBS2):c.345+5G>A	Bardet-Biedl syndrome 2 [RCV000785922]\|Bardet-Biedl syndrome [RCV001377154]\|not specified [RCV001797793]	likely pathogenic\|uncertain significance	16	56514448	56514448	Human	2	name
38465253	CV940361	single nucleotide variant	NM_031885.5(BBS2):c.718-2A>C	Bardet-Biedl syndrome 2 [RCV003462713]\|Bardet-Biedl syndrome [RCV001212618]	pathogenic\|likely pathogenic	16	56506038	56506038	Human	2	name
38475006	CV940362	single nucleotide variant	NM_031885.5(BBS2):c.717+5G>A	Bardet-Biedl syndrome [RCV001204078]	uncertain significance	16	56506115	56506115	Human	1	name
38470581	CV960162	single nucleotide variant	NM_031885.5(BBS2):c.941-1G>C	Bardet-Biedl syndrome [RCV001231013]	pathogenic\|likely pathogenic	16	56502457	56502457	Human	1	name
38469024	CV960163	single nucleotide variant	NM_031885.5(BBS2):c.117+5C>T	BBS2-related disorder [RCV004538483]\|Bardet-Biedl syndrome 2 [RCV001828842]\|Bardet-Biedl syndrome [RCV001230653]	likely benign\|uncertain significance	16	56519741	56519741	Human	2	name , alternate_id
127249320	CV1056321	single nucleotide variant	NM_031885.5(BBS2):c.1397+1G>A	Bardet-Biedl syndrome 2 [RCV005014514]\|Bardet-Biedl syndrome [RCV001378131]	likely pathogenic	16	56500853	56500853	Human	2	name
127243634	CV1056322	single nucleotide variant	NM_031885.5(BBS2):c.1080+2T>C	Bardet-Biedl syndrome [RCV001377136]	likely pathogenic	16	56502315	56502315	Human	1	name
127257286	CV1063678	single nucleotide variant	NM_031885.5(BBS2):c.2059+1G>T	Bardet-Biedl syndrome [RCV001386722]	pathogenic	16	56485589	56485589	Human	1	name
127254783	CV1082143	single nucleotide variant	NM_031885.5(BBS2):c.2060-4G>A	Bardet-Biedl syndrome [RCV001418623]	likely benign	16	56484871	56484871	Human	1	name
127280357	CV1082145	single nucleotide variant	NM_031885.5(BBS2):c.2060-9C>T	Bardet-Biedl syndrome [RCV001409732]	likely benign	16	56484876	56484876	Human	1	name
127258523	CV1082152	single nucleotide variant	NM_031885.5(BBS2):c.1528-4C>T	Bardet-Biedl syndrome [RCV001419567]	likely benign	16	56498572	56498572	Human	1	name
127279954	CV1082156	single nucleotide variant	NM_031885.5(BBS2):c.1226-5T>C	Bardet-Biedl syndrome [RCV001409460]	likely benign	16	56501030	56501030	Human	1	name
127236161	CV1082161	single nucleotide variant	NM_031885.5(BBS2):c.612+10T>C	Bardet-Biedl syndrome [RCV001396845]	likely benign	16	56509947	56509947	Human	1	name
127242329	CV1082165	single nucleotide variant	NM_031885.5(BBS2):c.471+10A>C	Bardet-Biedl syndrome [RCV001415948]	likely benign	16	56511149	56511149	Human	1	name
127282684	CV1082167	single nucleotide variant	NM_031885.5(BBS2):c.117+10C>T	BBS2-related disorder [RCV004531251]\|Bardet-Biedl syndrome [RCV001411284]\|not provided [RCV004704532]	likely benign	16	56519736	56519736	Human	2	name , alternate_id
127236635	CV1103941	single nucleotide variant	NM_031885.5(BBS2):c.2060-8T>C	BBS2-related disorder [RCV004733296]\|Bardet-Biedl syndrome [RCV001422564]	likely benign	16	56484875	56484875	Human	2	name , alternate_id
127240686	CV1103942	single nucleotide variant	NM_031885.5(BBS2):c.2059+7C>G	BBS2-related disorder [RCV004540299]\|Bardet-Biedl syndrome [RCV001423394]	likely benign	16	56485583	56485583	Human	2	name , alternate_id
127267774	CV1103947	deletion	NM_031885.5(BBS2):c.1797+7del	BBS2-related disorder [RCV004733304]\|Bardet-Biedl syndrome [RCV001429792]	likely benign	16	56497736	56497736	Human	2	name , alternate_id
127263503	CV1103952	single nucleotide variant	NM_031885.5(BBS2):c.1528-9A>G	Bardet-Biedl syndrome [RCV001439307]	likely benign	16	56498577	56498577	Human	1	name
127244229	CV1103965	single nucleotide variant	NM_031885.5(BBS2):c.534+10G>A	Bardet-Biedl syndrome [RCV001424078]	likely benign	16	56510849	56510849	Human	1	name
127291107	CV1125334	single nucleotide variant	NM_031885.5(BBS2):c.2060-5T>C	BBS2-related disorder [RCV004733330]\|Bardet-Biedl syndrome [RCV001458617]	likely benign	16	56484872	56484872	Human	2	name , alternate_id
127320820	CV1125356	single nucleotide variant	NM_031885.5(BBS2):c.471+17A>G	Bardet-Biedl syndrome 2 [RCV002501616]\|Bardet-Biedl syndrome [RCV001467020]	likely benign	16	56511142	56511142	Human	2	name
127297707	CV1125358	single nucleotide variant	NM_031885.5(BBS2):c.345+12C>T	Bardet-Biedl syndrome [RCV001460311]	likely benign	16	56514441	56514441	Human	1	name
127307840	CV1146259	single nucleotide variant	NM_031885.5(BBS2):c.1080+7G>A	BBS2-related disorder [RCV004733341]\|Bardet-Biedl syndrome [RCV001480422]	likely benign	16	56502310	56502310	Human	2	name , alternate_id
127312081	CV1146270	single nucleotide variant	NM_031885.5(BBS2):c.117+10C>G	Bardet-Biedl syndrome [RCV001481602]	likely benign	16	56519736	56519736	Human	1	name
127315487	CV1157756	deletion	NM_031885.5(BBS2):c.346-12del	Bardet-Biedl syndrome [RCV001520009]	benign	16	56511296	56511296	Human	1	name
127286346	CV1161927	single nucleotide variant	NM_031885.5(BBS2):c.613-54C>G	Bardet-Biedl syndrome 2 [RCV001526783]\|Retinitis pigmentosa 74 [RCV001526784]\|not provided [RCV001712945]	benign	16	56506278	56506278	Human	2	name
150471879	CV1259203	single nucleotide variant	NM_031885.5(BBS2):c.940+91C>T	not provided [RCV001684448]	benign	16	56502582	56502582	Human		name
151661924	CV1330125	single nucleotide variant	NM_031885.5(BBS2):c.1527+1G>A	Bardet-Biedl syndrome 2 [RCV001823536]\|Bardet-Biedl syndrome [RCV003523114]	likely pathogenic	16	56499777	56499777	Human	2	name
151877947	CV1337756	single nucleotide variant	NM_031885.5(BBS2):c.2060-5T>G	Bardet-Biedl syndrome [RCV001926062]	uncertain significance	16	56484872	56484872	Human	1	name
151884969	CV1364184	single nucleotide variant	NM_031885.5(BBS2):c.612+14C>G	Bardet-Biedl syndrome 2 [RCV002497865]\|Bardet-Biedl syndrome [RCV002037661]	likely benign	16	56509943	56509943	Human	2	name
151766991	CV1367179	single nucleotide variant	NM_031885.5(BBS2):c.1081-1G>A	Bardet-Biedl syndrome [RCV002024989]	likely pathogenic	16	56501498	56501498	Human	1	name
151741509	CV1386672	single nucleotide variant	NM_031885.5(BBS2):c.941-20G>A	Bardet-Biedl syndrome 2 [RCV002482720]\|Bardet-Biedl syndrome [RCV001893310]	uncertain significance	16	56502476	56502476	Human	2	name
151800544	CV1404008	single nucleotide variant	NM_031885.5(BBS2):c.1528-1G>C	Bardet-Biedl syndrome [RCV001973868]	likely pathogenic	16	56498569	56498569	Human	1	name
151821148	CV1408621	single nucleotide variant	NM_031885.5(BBS2):c.1225+6A>G	Bardet-Biedl syndrome [RCV002013393]	uncertain significance	16	56501347	56501347	Human	1	name
151884695	CV1432680	single nucleotide variant	NM_031885.5(BBS2):c.1798-2A>G	Bardet-Biedl syndrome [RCV002000329]	likely pathogenic	16	56497081	56497081	Human	1	name
152085093	CV1533665	single nucleotide variant	NM_031885.5(BBS2):c.1398-7G>T	Bardet-Biedl syndrome [RCV002093374]	likely benign	16	56499914	56499914	Human	1	name
152059425	CV1540463	single nucleotide variant	NM_031885.5(BBS2):c.1398-5C>T	Bardet-Biedl syndrome [RCV002109928]	likely benign	16	56499912	56499912	Human	1	name
152171061	CV1543929	single nucleotide variant	NM_031885.5(BBS2):c.718-10T>C	Bardet-Biedl syndrome [RCV002161977]	likely benign	16	56506046	56506046	Human	1	name
152082065	CV1548380	single nucleotide variant	NM_031885.5(BBS2):c.612+17C>T	Bardet-Biedl syndrome 2 [RCV002500116]\|Bardet-Biedl syndrome [RCV002076502]\|not specified [RCV005239256]	likely benign	16	56509940	56509940	Human	2	name
152078611	CV1557760	single nucleotide variant	NM_031885.5(BBS2):c.534+20T>C	Bardet-Biedl syndrome 2 [RCV002494050]\|Bardet-Biedl syndrome [RCV002170252]	likely benign	16	56510839	56510839	Human	2	name
152096807	CV1558043	single nucleotide variant	NM_031885.5(BBS2):c.534+13G>A	Bardet-Biedl syndrome [RCV002172567]	likely benign	16	56510846	56510846	Human	1	name
152093754	CV1561233	single nucleotide variant	NM_031885.5(BBS2):c.613-12A>G	Bardet-Biedl syndrome [RCV002094551]	likely benign	16	56506236	56506236	Human	1	name
152131575	CV1568042	single nucleotide variant	NM_031885.5(BBS2):c.117+17G>T	Bardet-Biedl syndrome 2 [RCV002507913]\|Bardet-Biedl syndrome [RCV002218143]	likely benign	16	56519729	56519729	Human	2	name
152072595	CV1574472	single nucleotide variant	NM_031885.5(BBS2):c.612+17C>G	Bardet-Biedl syndrome [RCV002191983]\|not specified [RCV005238212]	likely benign	16	56509940	56509940	Human	1	name
152143524	CV1579673	single nucleotide variant	NM_031885.5(BBS2):c.534+19A>C	Bardet-Biedl syndrome [RCV002084480]	likely benign	16	56510840	56510840	Human	1	name
152080908	CV1589325	single nucleotide variant	NM_031885.5(BBS2):c.1911-8T>G	Bardet-Biedl syndrome [RCV002112736]	likely benign	16	56485746	56485746	Human	1	name
152035664	CV1590454	single nucleotide variant	NM_031885.5(BBS2):c.941-11C>T	Bardet-Biedl syndrome 2 [RCV002479881]\|Bardet-Biedl syndrome [RCV002205533]	likely benign	16	56502467	56502467	Human	2	name
152100243	CV1595712	single nucleotide variant	NM_031885.5(BBS2):c.1226-7C>T	Bardet-Biedl syndrome [RCV002213907]	likely benign	16	56501032	56501032	Human	1	name
152172122	CV1598019	single nucleotide variant	NM_031885.5(BBS2):c.805-10T>G	Bardet-Biedl syndrome [RCV002162345]	likely benign	16	56502818	56502818	Human	1	name
152115240	CV1600522	single nucleotide variant	NM_031885.5(BBS2):c.612+18G>A	Bardet-Biedl syndrome 2 [RCV002498318]\|Bardet-Biedl syndrome [RCV002097387]	likely benign	16	56509939	56509939	Human	2	name
152097909	CV1611619	single nucleotide variant	NM_031885.5(BBS2):c.612+18G>T	Bardet-Biedl syndrome [RCV002172714]	likely benign	16	56509939	56509939	Human	1	name
152074588	CV1620434	single nucleotide variant	NM_031885.5(BBS2):c.717+16C>A	Bardet-Biedl syndrome [RCV002111924]	likely benign	16	56506104	56506104	Human	1	name
152044316	CV1621989	single nucleotide variant	NM_031885.5(BBS2):c.117+14C>T	Bardet-Biedl syndrome [RCV002108149]	likely benign	16	56519732	56519732	Human	1	name
152070487	CV1638619	single nucleotide variant	NM_031885.5(BBS2):c.534+17A>T	Bardet-Biedl syndrome [RCV002075035]	likely benign	16	56510842	56510842	Human	1	name
152081925	CV1641444	single nucleotide variant	NM_031885.5(BBS2):c.1659+7T>C	Bardet-Biedl syndrome [RCV002211532]	likely benign	16	56498430	56498430	Human	1	name
152101000	CV1645718	single nucleotide variant	NM_031885.5(BBS2):c.717+16C>T	Bardet-Biedl syndrome [RCV002173100]	likely benign	16	56506104	56506104	Human	1	name
152084728	CV1646420	single nucleotide variant	NM_031885.5(BBS2):c.1911-6G>A	Bardet-Biedl syndrome [RCV002149775]	likely benign	16	56485744	56485744	Human	1	name
152072645	CV1657239	single nucleotide variant	NM_031885.5(BBS2):c.612+14C>T	Bardet-Biedl syndrome [RCV002210182]	likely benign	16	56509943	56509943	Human	1	name
156055711	CV1879514	single nucleotide variant	NM_031885.5(BBS2):c.535-19T>C	Bardet-Biedl syndrome [RCV003053155]	likely benign\|uncertain significance	16	56510053	56510053	Human	1	name
156242929	CV1893823	single nucleotide variant	NM_031885.5(BBS2):c.471+14A>C	Bardet-Biedl syndrome [RCV003085814]	likely benign	16	56511145	56511145	Human	1	name
156444141	CV1937662	single nucleotide variant	NM_031885.5(BBS2):c.535-20G>C	Bardet-Biedl syndrome [RCV003115061]	likely benign	16	56510054	56510054	Human	1	name
156405451	CV1994400	single nucleotide variant	NM_031885.5(BBS2):c.1911-1G>C	Bardet-Biedl syndrome [RCV002658309]	likely pathogenic	16	56485739	56485739	Human	1	name
156373930	CV2052827	single nucleotide variant	NM_031885.5(BBS2):c.940+18A>G	Bardet-Biedl syndrome [RCV002814529]	likely benign	16	56502655	56502655	Human	1	name
156256285	CV2056832	single nucleotide variant	NM_031885.5(BBS2):c.1226-4G>A	Bardet-Biedl syndrome [RCV002791862]	likely benign	16	56501029	56501029	Human	1	name
155935832	CV2058001	single nucleotide variant	NM_031885.5(BBS2):c.941-10T>C	Bardet-Biedl syndrome [RCV002815364]	likely benign	16	56502466	56502466	Human	1	name
156083164	CV2060274	single nucleotide variant	NM_031885.5(BBS2):c.1225+2T>C	Bardet-Biedl syndrome 2 [RCV003464603]\|Bardet-Biedl syndrome [RCV002823922]	likely pathogenic	16	56501351	56501351	Human	2	name
155903492	CV2083994	single nucleotide variant	NM_031885.5(BBS2):c.2059+8T>G	Bardet-Biedl syndrome [RCV002858005]	likely benign	16	56485582	56485582	Human	1	name
156115176	CV2084855	single nucleotide variant	NM_031885.5(BBS2):c.1397+7C>T	Bardet-Biedl syndrome [RCV002889343]	likely benign	16	56500847	56500847	Human	1	name
156042274	CV2089705	single nucleotide variant	NM_031885.5(BBS2):c.471+12A>G	Bardet-Biedl syndrome [RCV002867488]	likely benign	16	56511147	56511147	Human	1	name
156148206	CV2090974	single nucleotide variant	NM_031885.5(BBS2):c.117+15C>G	Bardet-Biedl syndrome [RCV002890562]	likely benign	16	56519731	56519731	Human	1	name
156009748	CV2099976	single nucleotide variant	NM_031885.5(BBS2):c.613-11T>C	Bardet-Biedl syndrome [RCV002909039]	likely benign	16	56506235	56506235	Human	1	name
156293141	CV2111513	single nucleotide variant	NM_031885.5(BBS2):c.535-15A>T	Bardet-Biedl syndrome [RCV002922238]	uncertain significance	16	56510049	56510049	Human	1	name
156126481	CV2124925	single nucleotide variant	NM_031885.5(BBS2):c.1397+2T>C	Bardet-Biedl syndrome 2 [RCV003464642]\|Bardet-Biedl syndrome [RCV002953706]	likely pathogenic	16	56500852	56500852	Human	2	name
156363789	CV2180703	deletion	NM_031885.5(BBS2):c.534+11del	Bardet-Biedl syndrome [RCV003049202]	benign	16	56510848	56510848	Human	1	name
11350808	CV237445	single nucleotide variant	NM_031885.5(BBS2):c.805-20A>G	Bardet-Biedl syndrome 1 [RCV000709638]\|Bardet-Biedl syndrome [RCV001081960]\|not provided [RCV000224448]\|not specified [RCV000242904]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	56502828	56502828	Human	2	name
11549002	CV255822	single nucleotide variant	NM_031885.5(BBS2):c.1659+3A>G	Bardet-Biedl syndrome 1 [RCV000709640]\|Bardet-Biedl syndrome 2 [RCV001094289]\|Bardet-Biedl syndrome [RCV000377426]\|not provided [RCV000428849]\|not specified [RCV000249845]	benign\|likely benign\|conflicting interpretations of pathogenicity	16	56498434	56498434	Human	3	name
11549976	CV255823	single nucleotide variant	NM_031885.5(BBS2):c.718-34G>A	Bardet-Biedl syndrome 2 [RCV001533781]\|Retinitis pigmentosa 74 [RCV001533782]\|not provided [RCV001651258]\|not specified [RCV000251127]	benign\|likely benign	16	56506070	56506070	Human	2	name
11546394	CV255824	single nucleotide variant	NM_031885.5(BBS2):c.612+42T>C	not provided [RCV004703557]\|not specified [RCV000246408]	likely benign	16	56509915	56509915	Human		name
11545632	CV255826	single nucleotide variant	NM_031885.5(BBS2):c.117+27C>T	not specified [RCV000245403]	likely benign	16	56519719	56519719	Human		name
401946481	CV2833735	duplication	NM_031885.5(BBS2):c.1225+2dup	Bardet-Biedl syndrome 2 [RCV003465045]\|Bardet-Biedl syndrome 2 [RCV005021984]	likely pathogenic\|uncertain significance	16	56501350	56501351	Human	1	name
401946475	CV2833737	deletion	NM_031885.5(BBS2):c.2059+1del	Bardet-Biedl syndrome 2 [RCV003465047]	likely pathogenic	16	56485589	56485589	Human	1	name
405072699	CV2865669	single nucleotide variant	NM_031885.5(BBS2):c.1080+8T>G	Bardet-Biedl syndrome [RCV003523963]	likely benign	16	56502309	56502309	Human	1	name
405052291	CV2880289	single nucleotide variant	NM_031885.5(BBS2):c.1527+2T>G	Bardet-Biedl syndrome [RCV003522246]	likely pathogenic	16	56499776	56499776	Human	1	name
405066257	CV2896000	single nucleotide variant	NM_031885.5(BBS2):c.612+16T>A	Bardet-Biedl syndrome [RCV003523517]	likely benign	16	56509941	56509941	Human	1	name
405065847	CV2899655	single nucleotide variant	NM_031885.5(BBS2):c.472-18T>C	Bardet-Biedl syndrome [RCV003523488]	likely benign	16	56510939	56510939	Human	1	name
405066936	CV2900010	single nucleotide variant	NM_031885.5(BBS2):c.118-17A>C	Bardet-Biedl syndrome [RCV003523564]	likely benign	16	56514697	56514697	Human	1	name
405069144	CV2900941	single nucleotide variant	NM_031885.5(BBS2):c.118-13A>G	Bardet-Biedl syndrome [RCV003523694]	likely benign	16	56514693	56514693	Human	1	name
405079058	CV2913008	single nucleotide variant	NM_031885.5(BBS2):c.346-12T>A	Bardet-Biedl syndrome [RCV003524402]	likely benign	16	56511296	56511296	Human	1	name
405079961	CV2919967	duplication	NM_031885.5(BBS2):c.534+11dup	Bardet-Biedl syndrome [RCV003524488]	benign	16	56510847	56510848	Human	1	name
405056925	CV2922377	single nucleotide variant	NM_031885.5(BBS2):c.804+17A>G	Bardet-Biedl syndrome [RCV003522643]	likely benign	16	56505933	56505933	Human	1	name
405058571	CV2926856	single nucleotide variant	NM_031885.5(BBS2):c.118-16G>T	Bardet-Biedl syndrome [RCV003522756]	likely benign	16	56514696	56514696	Human	1	name
405078419	CV2942956	single nucleotide variant	NM_031885.5(BBS2):c.117+16C>T	Bardet-Biedl syndrome [RCV003633740]	likely benign	16	56519730	56519730	Human	1	name
405079351	CV2948416	duplication	NM_031885.5(BBS2):c.613-17dup	Bardet-Biedl syndrome [RCV003633851]	benign	16	56506240	56506241	Human	1	name
405086565	CV2952167	deletion	NM_031885.5(BBS2):c.345+15del	Bardet-Biedl syndrome [RCV003634485]	likely benign	16	56514438	56514438	Human	1	name
405088866	CV2966076	single nucleotide variant	NM_031885.5(BBS2):c.345+16A>G	Bardet-Biedl syndrome [RCV003634679]	likely benign	16	56514437	56514437	Human	1	name
405089141	CV2966759	deletion	NM_031885.5(BBS2):c.1225+1del	Bardet-Biedl syndrome [RCV003634702]	pathogenic	16	56501352	56501352	Human	1	name
405089544	CV2975386	single nucleotide variant	NM_031885.5(BBS2):c.1660-9T>G	Bardet-Biedl syndrome [RCV003634642]	likely benign	16	56497889	56497889	Human	1	name
405091734	CV2979820	single nucleotide variant	NM_031885.5(BBS2):c.2060-7T>C	Bardet-Biedl syndrome [RCV003634888]	likely benign	16	56484874	56484874	Human	1	name
405091382	CV2982819	single nucleotide variant	NM_031885.5(BBS2):c.346-20T>C	Bardet-Biedl syndrome [RCV003634858]	likely benign	16	56511304	56511304	Human	1	name
405089701	CV2984257	single nucleotide variant	NM_031885.5(BBS2):c.804+15C>G	Bardet-Biedl syndrome [RCV003634721]	likely benign	16	56505935	56505935	Human	1	name
405089975	CV2987575	single nucleotide variant	NM_031885.5(BBS2):c.718-19T>G	Bardet-Biedl syndrome [RCV003634743]	likely benign	16	56506055	56506055	Human	1	name
405091515	CV2989667	single nucleotide variant	NM_031885.5(BBS2):c.117+12C>T	Bardet-Biedl syndrome [RCV003634869]	likely benign	16	56519734	56519734	Human	1	name
405092241	CV2997964	single nucleotide variant	NM_031885.5(BBS2):c.717+17C>T	Bardet-Biedl syndrome [RCV003634927]	likely benign	16	56506103	56506103	Human	1	name
405093983	CV3000630	single nucleotide variant	NM_031885.5(BBS2):c.345+17T>C	Bardet-Biedl syndrome [RCV003635119]	likely benign	16	56514436	56514436	Human	1	name
405093852	CV3001215	single nucleotide variant	NM_031885.5(BBS2):c.805-10T>A	Bardet-Biedl syndrome [RCV003634942]	likely benign	16	56502818	56502818	Human	1	name
405095749	CV3006352	single nucleotide variant	NM_031885.5(BBS2):c.2059+7C>T	Bardet-Biedl syndrome [RCV003635295]	likely benign	16	56485583	56485583	Human	1	name
405094969	CV3012234	single nucleotide variant	NM_031885.5(BBS2):c.345+11C>T	Bardet-Biedl syndrome [RCV003635211]	likely benign	16	56514442	56514442	Human	1	name
405070660	CV3023523	single nucleotide variant	NM_031885.5(BBS2):c.1398-4A>G	Bardet-Biedl syndrome [RCV003633109]	likely benign	16	56499911	56499911	Human	1	name
405071381	CV3031381	single nucleotide variant	NM_031885.5(BBS2):c.534+17A>G	Bardet-Biedl syndrome [RCV003633164]	likely benign	16	56510842	56510842	Human	1	name
405072668	CV3033649	single nucleotide variant	NM_031885.5(BBS2):c.1397+9T>C	Bardet-Biedl syndrome [RCV003633249]	likely benign	16	56500845	56500845	Human	1	name
405072571	CV3039126	single nucleotide variant	NM_031885.5(BBS2):c.2060-6A>G	BBS2-related disorder [RCV004733628]\|Bardet-Biedl syndrome [RCV003633243]	likely benign	16	56484873	56484873	Human	2	name , alternate_id
405074256	CV3043832	single nucleotide variant	NM_031885.5(BBS2):c.117+11C>A	Bardet-Biedl syndrome [RCV003633338]	likely benign	16	56519735	56519735	Human	1	name
405075081	CV3051748	single nucleotide variant	NM_031885.5(BBS2):c.117+19A>T	Bardet-Biedl syndrome [RCV003633400]	likely benign	16	56519727	56519727	Human	1	name
405073612	CV3053206	single nucleotide variant	NM_031885.5(BBS2):c.346-11A>G	Bardet-Biedl syndrome [RCV003633294]	likely benign	16	56511295	56511295	Human	1	name
405074332	CV3053957	single nucleotide variant	NM_031885.5(BBS2):c.534+18T>C	Bardet-Biedl syndrome [RCV003633345]	likely benign	16	56510841	56510841	Human	1	name
405081949	CV3061511	single nucleotide variant	NM_031885.5(BBS2):c.117+16C>G	Bardet-Biedl syndrome [RCV003634092]	likely benign	16	56519730	56519730	Human	1	name
405081307	CV3067839	single nucleotide variant	NM_031885.5(BBS2):c.535-18A>G	Bardet-Biedl syndrome [RCV003634032]	likely benign	16	56510052	56510052	Human	1	name
405085306	CV3075051	duplication	NM_031885.5(BBS2):c.941-13dup	Bardet-Biedl syndrome [RCV003634377]	benign	16	56502468	56502469	Human	1	name
405085158	CV3077356	single nucleotide variant	NM_031885.5(BBS2):c.534+11G>T	Bardet-Biedl syndrome [RCV003634364]	likely benign	16	56510848	56510848	Human	1	name
405085206	CV3077601	single nucleotide variant	NM_031885.5(BBS2):c.941-19G>A	Bardet-Biedl syndrome [RCV003634369]	likely benign	16	56502475	56502475	Human	1	name
405083503	CV3078630	single nucleotide variant	NM_031885.5(BBS2):c.117+19A>C	Bardet-Biedl syndrome [RCV003634204]	likely benign	16	56519727	56519727	Human	1	name
405000319	CV3120204	single nucleotide variant	NM_031885.5(BBS2):c.941-20G>T	Bardet-Biedl syndrome [RCV003827994]	likely benign	16	56502476	56502476	Human	1	name
405052661	CV3138381	single nucleotide variant	NM_031885.5(BBS2):c.805-15G>A	Bardet-Biedl syndrome [RCV003832225]	likely benign	16	56502823	56502823	Human	1	name
405065361	CV3144811	single nucleotide variant	NM_031885.5(BBS2):c.940+20A>G	Bardet-Biedl syndrome [RCV003850588]	likely benign	16	56502653	56502653	Human	1	name
405095532	CV3148007	single nucleotide variant	NM_031885.5(BBS2):c.1528-4C>G	Bardet-Biedl syndrome [RCV003852637]	likely benign	16	56498572	56498572	Human	1	name
405188715	CV3156644	single nucleotide variant	NM_031885.5(BBS2):c.534+19A>G	Bardet-Biedl syndrome [RCV003859522]	likely benign	16	56510840	56510840	Human	1	name
405229216	CV3166178	single nucleotide variant	NM_031885.5(BBS2):c.118-15T>C	Bardet-Biedl syndrome [RCV003864934]	likely benign	16	56514695	56514695	Human	1	name
402468032	CV3174236	deletion	NM_031885.5(BBS2):c.472-13del	Bardet-Biedl syndrome [RCV003873519]	benign	16	56510934	56510934	Human	1	name
402511493	CV3178386	single nucleotide variant	NM_031885.5(BBS2):c.1080+9A>G	Bardet-Biedl syndrome [RCV003879003]	likely benign	16	56502308	56502308	Human	1	name
11622979	CV335453	single nucleotide variant	NM_031885.5(BBS2):c.1910+9T>G	BBS2-related disorder [RCV004537806]\|Bardet-Biedl syndrome 2 [RCV000671045]\|Bardet-Biedl syndrome [RCV002056501]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	56496958	56496958	Human	2	name , alternate_id
405870467	CV3399863	single nucleotide variant	NM_031885.5(BBS2):c.1225+2T>G	Bardet-Biedl syndrome 2 [RCV004574011]	likely pathogenic	16	56501351	56501351	Human	1	name
405870469	CV3399864	single nucleotide variant	NM_031885.5(BBS2):c.1910+1G>A	Bardet-Biedl syndrome 2 [RCV004574012]	likely pathogenic	16	56496966	56496966	Human	1	name
408371107	CV3504652	single nucleotide variant	NM_031885.5(BBS2):c.1911-2A>G	BBS2-related disorder [RCV004724365]	likely pathogenic	16	56485740	56485740	Human	1	name , trait , alternate_id
408367960	CV3507806	single nucleotide variant	NM_031885.5(BBS2):c.1225+4A>G	BBS2-related disorder [RCV004733697]	uncertain significance	16	56501349	56501349	Human	1	name , trait , alternate_id
408368060	CV3510954	single nucleotide variant	NM_031885.5(BBS2):c.1226-5T>G	BBS2-related disorder [RCV004733790]	likely benign	16	56501030	56501030	Human	1	name , trait , alternate_id
597750254	CV3705075	single nucleotide variant	NM_031885.5(BBS2):c.718-10T>A	Bardet-Biedl syndrome 2 [RCV005015637]	uncertain significance	16	56506046	56506046	Human	1	name
597895222	CV3744145	single nucleotide variant	NM_031885.5(BBS2):c.612+20A>G	Bardet-Biedl syndrome [RCV005071615]	likely benign	16	56509937	56509937	Human	1	name
597840744	CV3756135	single nucleotide variant	NM_031885.5(BBS2):c.612+12C>T	Bardet-Biedl syndrome [RCV005086407]	likely benign	16	56509945	56509945	Human	1	name
597951048	CV3765315	single nucleotide variant	NM_031885.5(BBS2):c.472-16G>A	Bardet-Biedl syndrome [RCV005120959]	likely benign	16	56510937	56510937	Human	1	name
597943556	CV3765838	single nucleotide variant	NM_031885.5(BBS2):c.613-13G>A	Bardet-Biedl syndrome [RCV005119216]	likely benign	16	56506237	56506237	Human	1	name
8602678	CV44420	single nucleotide variant	NM_031885.5(BBS2):c.612+12C>A	Bardet-Biedl syndrome 1 [RCV000709637]\|Bardet-Biedl syndrome 2 [RCV001094391]\|Bardet-Biedl syndrome 2 [RCV002496444]\|Bardet-Biedl syndrome [RCV000029408]\|not provided [RCV001689572]	benign\|likely benign\|conflicting interpretations of pathogenicity	16	56509945	56509945	Human	3	name
13466781	CV466753	single nucleotide variant	NM_031885.5(BBS2):c.345+10A>G	Bardet-Biedl syndrome [RCV000543649]	likely benign	16	56514443	56514443	Human	1	name
13787280	CV547754	single nucleotide variant	NM_031885.5(BBS2):c.1911-1G>A	BBS2-related disorder [RCV004732996]\|Bardet-Biedl syndrome 2 [RCV000673371]\|Bardet-Biedl syndrome [RCV001855595]	likely pathogenic	16	56485739	56485739	Human	2	name , alternate_id
13786875	CV547798	single nucleotide variant	NM_031885.5(BBS2):c.1081-1G>T	Bardet-Biedl syndrome 2 [RCV000673151]	likely pathogenic	16	56501498	56501498	Human	1	name
13784822	CV548013	single nucleotide variant	NM_031885.5(BBS2):c.2060-1G>T	Bardet-Biedl syndrome 2 [RCV000671300]\|Retinal dystrophy [RCV001074105]	likely pathogenic	16	56484868	56484868	Human	3	name
13789120	CV548494	single nucleotide variant	NM_031885.5(BBS2):c.1797+1G>A	Bardet-Biedl syndrome 2 [RCV000665792]	likely pathogenic	16	56497742	56497742	Human	1	name
15123416	CV685420	single nucleotide variant	NM_031885.5(BBS2):c.472-10T>C	Bardet-Biedl syndrome 2 [RCV001830864]\|Bardet-Biedl syndrome [RCV000862236]\|not provided [RCV001579356]\|not specified [RCV001701325]	benign\|likely benign	16	56510931	56510931	Human	2	name
15128948	CV695700	single nucleotide variant	NM_031885.5(BBS2):c.1528-7T>C	Bardet-Biedl syndrome [RCV001418341]	likely benign	16	56498575	56498575	Human	1	name
15110038	CV788034	single nucleotide variant	NM_031885.5(BBS2):c.1798-8G>T	Bardet-Biedl syndrome [RCV002548421]	likely benign	16	56497087	56497087	Human	1	name
28878325	CV876680	single nucleotide variant	NM_031885.5(BBS2):c.1397+7C>A	Bardet-Biedl syndrome 2 [RCV001116872]\|Bardet-Biedl syndrome [RCV001427201]	likely benign\|uncertain significance	16	56500847	56500847	Human	2	name
38486553	CV941139	single nucleotide variant	NM_031885.5(BBS2):c.1398-2A>G	Bardet-Biedl syndrome [RCV001220353]	likely pathogenic	16	56499909	56499909	Human	1	name
38470725	CV960847	single nucleotide variant	NM_031885.5(BBS2):c.1527+5G>C	BBS2-related disorder [RCV004538526]\|Bardet-Biedl syndrome 2 [RCV001830039]\|Bardet-Biedl syndrome 2 [RCV002484398]\|Bardet-Biedl syndrome [RCV001248479]\|Inborn genetic diseases [RCV002570381]\|not provided [RCV004692344]\|not specified [RCV004782685]	uncertain significance	16	56499773	56499773	Human	3	name , alternate_id
127258515	CV1082148	single nucleotide variant	NM_031885.5(BBS2):c.1660-10C>T	Bardet-Biedl syndrome [RCV001401703]	likely benign	16	56497890	56497890	Human	1	name
127247706	CV1082149	single nucleotide variant	NM_031885.5(BBS2):c.1659+18G>A	Bardet-Biedl syndrome [RCV001399176]	likely benign	16	56498419	56498419	Human	1	name
127329784	CV1125335	single nucleotide variant	NM_031885.5(BBS2):c.2060-10T>C	Bardet-Biedl syndrome [RCV001470422]	likely benign	16	56484877	56484877	Human	1	name
127312802	CV1125339	single nucleotide variant	NM_031885.5(BBS2):c.1798-10T>C	Bardet-Biedl syndrome [RCV001457239]	likely benign	16	56497089	56497089	Human	1	name
127297342	CV1146246	single nucleotide variant	NM_031885.5(BBS2):c.1911-10A>T	Bardet-Biedl syndrome [RCV001497753]	likely benign	16	56485748	56485748	Human	1	name
150435716	CV1233940	single nucleotide variant	NM_031885.5(BBS2):c.118-185G>A	not provided [RCV001644067]	benign	16	56514865	56514865	Human		name
150460136	CV1268449	single nucleotide variant	NM_031885.5(BBS2):c.2059+79A>G	not provided [RCV001693446]	benign	16	56485511	56485511	Human		name
150510179	CV1286716	deletion	NM_031885.5(BBS2):c.1225+71del	not provided [RCV001720951]	benign	16	56501282	56501282	Human		name
152039141	CV1538304	single nucleotide variant	NM_031885.5(BBS2):c.1527+13C>T	Bardet-Biedl syndrome [RCV002206075]	likely benign	16	56499765	56499765	Human	1	name
152098054	CV1542362	single nucleotide variant	NM_031885.5(BBS2):c.1225+16C>T	Bardet-Biedl syndrome [RCV002195180]	likely benign	16	56501337	56501337	Human	1	name
152089263	CV1563071	single nucleotide variant	NM_031885.5(BBS2):c.1528-16T>C	Bardet-Biedl syndrome [RCV002113846]	likely benign	16	56498584	56498584	Human	1	name
152093242	CV1570458	single nucleotide variant	NM_031885.5(BBS2):c.1528-15G>T	Bardet-Biedl syndrome 2 [RCV002494120]\|Bardet-Biedl syndrome [RCV002213018]	likely benign	16	56498583	56498583	Human	2	name
152118623	CV1575877	single nucleotide variant	NM_031885.5(BBS2):c.1797+13G>A	Bardet-Biedl syndrome 2 [RCV002486823]\|Bardet-Biedl syndrome [RCV002197744]	likely benign	16	56497730	56497730	Human	2	name
152132217	CV1578494	single nucleotide variant	NM_031885.5(BBS2):c.1080+10G>C	Bardet-Biedl syndrome [RCV002155692]	likely benign	16	56502307	56502307	Human	1	name
152047486	CV1591398	single nucleotide variant	NM_031885.5(BBS2):c.2059+15A>T	Bardet-Biedl syndrome [RCV002188996]	likely benign	16	56485575	56485575	Human	1	name
152151295	CV1598266	single nucleotide variant	NM_031885.5(BBS2):c.1225+19C>T	Bardet-Biedl syndrome [RCV002121780]	likely benign	16	56501334	56501334	Human	1	name
152162897	CV1606395	single nucleotide variant	NM_031885.5(BBS2):c.2059+15A>G	Bardet-Biedl syndrome [RCV002181239]	likely benign	16	56485575	56485575	Human	1	name
152174176	CV1622160	single nucleotide variant	NM_031885.5(BBS2):c.1798-11A>G	Bardet-Biedl syndrome [RCV002184421]	likely benign	16	56497090	56497090	Human	1	name
152156770	CV1629767	single nucleotide variant	NM_031885.5(BBS2):c.1225+17A>G	Bardet-Biedl syndrome [RCV002202755]	likely benign	16	56501336	56501336	Human	1	name
152157461	CV1630556	single nucleotide variant	NM_031885.5(BBS2):c.1080+14C>T	Bardet-Biedl syndrome 2 [RCV002500011]\|Bardet-Biedl syndrome [RCV002122619]	benign\|likely benign	16	56502303	56502303	Human	2	name
156106882	CV1903615	single nucleotide variant	NM_031885.5(BBS2):c.1081-16G>A	Bardet-Biedl syndrome [RCV003080816]	uncertain significance	16	56501513	56501513	Human	1	name
156447073	CV1944708	single nucleotide variant	NM_031885.5(BBS2):c.1225+11A>G	Bardet-Biedl syndrome [RCV003118600]	likely benign	16	56501342	56501342	Human	1	name
156296603	CV1955331	single nucleotide variant	NM_031885.5(BBS2):c.1660-17A>G	Bardet-Biedl syndrome [RCV002578036]	likely benign	16	56497897	56497897	Human	1	name
156391730	CV1991372	single nucleotide variant	NM_031885.5(BBS2):c.1225+12C>T	Bardet-Biedl syndrome [RCV002635056]	likely benign	16	56501341	56501341	Human	1	name
156208538	CV2000798	single nucleotide variant	NM_031885.5(BBS2):c.1080+11G>T	Bardet-Biedl syndrome [RCV002666756]	likely benign	16	56502306	56502306	Human	1	name
156243056	CV2024677	single nucleotide variant	NM_031885.5(BBS2):c.1398-10T>C	Bardet-Biedl syndrome [RCV002745729]	likely benign	16	56499917	56499917	Human	1	name
156329037	CV2065042	single nucleotide variant	NM_031885.5(BBS2):c.1798-16T>C	Bardet-Biedl syndrome [RCV002835186]	uncertain significance	16	56497095	56497095	Human	1	name
156182623	CV2102527	single nucleotide variant	NM_031885.5(BBS2):c.1797+14G>T	Bardet-Biedl syndrome [RCV002917190]	likely benign	16	56497729	56497729	Human	1	name
156169739	CV2184940	single nucleotide variant	NM_031885.5(BBS2):c.1659+10A>G	Bardet-Biedl syndrome [RCV003057182]	likely benign	16	56498427	56498427	Human	1	name
405063571	CV2854318	deletion	NM_031885.5(BBS2):c.1527+17del	Bardet-Biedl syndrome [RCV003523305]	benign	16	56499761	56499761	Human	1	name
405073198	CV2865964	single nucleotide variant	NM_031885.5(BBS2):c.1080+10G>A	Bardet-Biedl syndrome [RCV003523973]	likely benign	16	56502307	56502307	Human	1	name
405052908	CV2870112	single nucleotide variant	NM_031885.5(BBS2):c.1527+20C>G	Bardet-Biedl syndrome [RCV003522301]	likely benign	16	56499758	56499758	Human	1	name
404990949	CV2886727	single nucleotide variant	NM_031885.5(BBS2):c.1397+10T>G	Bardet-Biedl syndrome [RCV003525053]	likely benign	16	56500844	56500844	Human	1	name
404990845	CV2889967	single nucleotide variant	NM_031885.5(BBS2):c.1398-14T>C	Bardet-Biedl syndrome [RCV003525042]	likely benign	16	56499921	56499921	Human	1	name
404990850	CV2890001	single nucleotide variant	NM_031885.5(BBS2):c.1225+10T>A	Bardet-Biedl syndrome [RCV003525043]	likely benign	16	56501343	56501343	Human	1	name
404991503	CV2893709	single nucleotide variant	NM_031885.5(BBS2):c.1798-18A>G	Bardet-Biedl syndrome [RCV003525110]	likely benign	16	56497097	56497097	Human	1	name
405067075	CV2896218	single nucleotide variant	NM_031885.5(BBS2):c.1527+18C>T	Bardet-Biedl syndrome [RCV003523576]	likely benign	16	56499760	56499760	Human	1	name
405065271	CV2905699	single nucleotide variant	NM_031885.5(BBS2):c.1080+18T>C	Bardet-Biedl syndrome [RCV003523444]	likely benign	16	56502299	56502299	Human	1	name
405070009	CV2911773	single nucleotide variant	NM_031885.5(BBS2):c.1911-14A>C	Bardet-Biedl syndrome [RCV003523752]	likely benign	16	56485752	56485752	Human	1	name
405079587	CV2949094	single nucleotide variant	NM_031885.5(BBS2):c.1660-16T>C	Bardet-Biedl syndrome [RCV003633876]	likely benign	16	56497896	56497896	Human	1	name
405086324	CV2951768	single nucleotide variant	NM_031885.5(BBS2):c.2060-18A>T	Bardet-Biedl syndrome [RCV003634467]	likely benign	16	56484885	56484885	Human	1	name
405087815	CV2966808	single nucleotide variant	NM_031885.5(BBS2):c.1225+14C>T	Bardet-Biedl syndrome [RCV003634531]	likely benign	16	56501339	56501339	Human	1	name
405087834	CV2966857	single nucleotide variant	NM_031885.5(BBS2):c.1397+15G>A	Bardet-Biedl syndrome [RCV003634532]	likely benign	16	56500839	56500839	Human	1	name
405092829	CV2992034	single nucleotide variant	NM_031885.5(BBS2):c.1081-14G>C	Bardet-Biedl syndrome [RCV003635007]	likely benign	16	56501511	56501511	Human	1	name
405095060	CV3008911	duplication	NM_031885.5(BBS2):c.1911-10dup	Bardet-Biedl syndrome [RCV003635219]	likely benign	16	56485747	56485748	Human	1	name
405069671	CV3029401	single nucleotide variant	NM_031885.5(BBS2):c.1528-19C>A	Bardet-Biedl syndrome [RCV003633037]	likely benign	16	56498587	56498587	Human	1	name
405072919	CV3033996	single nucleotide variant	NM_031885.5(BBS2):c.1659+11A>C	Bardet-Biedl syndrome [RCV003633266]	likely benign	16	56498426	56498426	Human	1	name
405075067	CV3051706	single nucleotide variant	NM_031885.5(BBS2):c.1527+11C>T	Bardet-Biedl syndrome [RCV003633399]	likely benign	16	56499767	56499767	Human	1	name
405076001	CV3056241	single nucleotide variant	NM_031885.5(BBS2):c.1797+17G>A	Bardet-Biedl syndrome [RCV003633462]	likely benign	16	56497726	56497726	Human	1	name
405083035	CV3062816	single nucleotide variant	NM_031885.5(BBS2):c.1660-18T>C	Bardet-Biedl syndrome [RCV003634166]	likely benign	16	56497898	56497898	Human	1	name
405082233	CV3065255	duplication	NM_031885.5(BBS2):c.1080+18dup	Bardet-Biedl syndrome [RCV003634116]	likely benign	16	56502298	56502299	Human	1	name
405085588	CV3080945	single nucleotide variant	NM_031885.5(BBS2):c.1226-11C>G	Bardet-Biedl syndrome [RCV003634400]	likely benign	16	56501036	56501036	Human	1	name
405109292	CV3136751	single nucleotide variant	NM_031885.5(BBS2):c.1527+19T>G	Bardet-Biedl syndrome [RCV003835905]	likely benign	16	56499759	56499759	Human	1	name
405095070	CV3164279	single nucleotide variant	NM_031885.5(BBS2):c.1659+17C>T	Bardet-Biedl syndrome [RCV003852594]	likely benign	16	56498420	56498420	Human	1	name
11613327	CV341900	single nucleotide variant	NM_031885.5(BBS2):c.1797+12C>T	Bardet-Biedl syndrome 2 [RCV000267494]\|Bardet-Biedl syndrome [RCV001445202]	likely benign\|uncertain significance	16	56497731	56497731	Human	2	name
11615155	CV343434	single nucleotide variant	NM_031885.5(BBS2):c.1527+12G>A	Bardet-Biedl syndrome 2 [RCV000282870]\|Bardet-Biedl syndrome [RCV001850698]	likely benign\|uncertain significance	16	56499766	56499766	Human	2	name
597870303	CV3768154	single nucleotide variant	NM_031885.5(BBS2):c.1797+20G>T	Bardet-Biedl syndrome [RCV005122533]	likely benign	16	56497723	56497723	Human	1	name
597940163	CV3772086	deletion	NM_031885.5(BBS2):c.2060-10del	Bardet-Biedl syndrome [RCV005118341]	likely benign	16	56484877	56484877	Human	1	name
597895788	CV3773489	single nucleotide variant	NM_031885.5(BBS2):c.1226-18T>A	Bardet-Biedl syndrome [RCV005111396]	likely benign	16	56501043	56501043	Human	1	name
597928374	CV3783427	single nucleotide variant	NM_031885.5(BBS2):c.1660-17A>T	Bardet-Biedl syndrome [RCV005116114]	likely benign	16	56497897	56497897	Human	1	name
597868708	CV3783980	single nucleotide variant	NM_031885.5(BBS2):c.1660-12T>A	Bardet-Biedl syndrome [RCV005122283]	likely benign	16	56497892	56497892	Human	1	name
597943184	CV3816404	single nucleotide variant	NM_031885.5(BBS2):c.1527+19T>C	Bardet-Biedl syndrome [RCV005159465]	likely benign	16	56499759	56499759	Human	1	name
13520909	CV487922	single nucleotide variant	NM_031885.5(BBS2):c.1081-18G>T	Bardet-Biedl syndrome 2 [RCV002491172]\|Bardet-Biedl syndrome [RCV001523055]\|not provided [RCV000588493]	benign\|likely benign	16	56501515	56501515	Human	2	name
15134977	CV776536	single nucleotide variant	NM_031885.5(BBS2):c.1225+10T>C	Bardet-Biedl syndrome [RCV001428333]	likely benign	16	56501343	56501343	Human	1	name
28883046	CV876681	single nucleotide variant	NM_031885.5(BBS2):c.1226-11C>T	Bardet-Biedl syndrome 2 [RCV001118324]\|Bardet-Biedl syndrome [RCV002069911]	likely benign\|uncertain significance	16	56501036	56501036	Human	2	name
150333093	CV1172861	single nucleotide variant	NM_031885.5(BBS2):c.1081-204T>G	not provided [RCV001539314]	benign	16	56501701	56501701	Human		name
150434683	CV1215951	single nucleotide variant	NM_031885.5(BBS2):c.1226-122T>C	not provided [RCV001609139]	benign	16	56501147	56501147	Human		name
150516125	CV1228246	single nucleotide variant	NM_031885.5(BBS2):c.1910+129C>T	not provided [RCV001639052]	benign	16	56496838	56496838	Human		name
150508668	CV1229702	single nucleotide variant	NM_031885.5(BBS2):c.1080+149G>A	not provided [RCV001636280]	benign	16	56502168	56502168	Human		name
150433446	CV1230528	single nucleotide variant	NM_031885.5(BBS2):c.1798-194G>C	not provided [RCV001643473]	benign	16	56497273	56497273	Human		name
150477940	CV1252093	single nucleotide variant	NM_031885.5(BBS2):c.2060-318T>C	not provided [RCV001672293]	benign	16	56485185	56485185	Human		name
150445993	CV1271801	duplication	NM_031885.5(BBS2):c.1528-150dup	not provided [RCV001691215]	benign	16	56498706	56498707	Human		name
150479567	CV1273489	deletion	NM_031885.5(BBS2):c.1528-139del	not provided [RCV001696693]	benign	16	56498707	56498707	Human		name
150464476	CV1276400	duplication	NM_031885.5(BBS2):c.1397+211dup	not provided [RCV001710345]	benign	16	56500624	56500625	Human		name
150477351	CV1279432	single nucleotide variant	NM_031885.5(BBS2):c.1081-101T>C	not provided [RCV001714119]	benign	16	56501598	56501598	Human		name
401903229	CV2807959	single nucleotide variant	NM_031885.5(BBS2):c.1528-126G>C	not provided [RCV003419336]	benign	16	56498694	56498694	Human		name
405094849	CV3015141	single nucleotide variant	NM_031885.5(BBS2):c.9G>T (p.Leu3=)	Bardet-Biedl syndrome [RCV003635201]	likely benign	16	56519854	56519854	Human	1	name
408368145	CV3516668	single nucleotide variant	NM_031885.5(BBS2):c.7C>T (p.Leu3=)	BBS2-related disorder [RCV004733946]	likely benign	16	56519856	56519856	Human	1	name , trait , alternate_id
597750178	CV3705060	duplication	NM_031885.5(BBS2):c.1398-9_1410dup	Bardet-Biedl syndrome 2 [RCV005015624]	likely pathogenic	16	56499894	56499895	Human	1	name
597937584	CV3774717	deletion	NM_031885.5(BBS2):c.356_472-117del	Bardet-Biedl syndrome [RCV005117750]	pathogenic	16	56511038	56511274	Human	1	name
13783484	CV547790	deletion	NM_031885.3(BBS2):c.1528_1539del12	BBS2-related disorder [RCV004732995]\|Bardet-Biedl syndrome 2 [RCV000670093]	uncertain significance	16	56498557	56498568	Human	1	name , alternate_id
151822905	CV1448344	deletion	NM_031885.5(BBS2):c.535-27_535-3del	Bardet-Biedl syndrome [RCV001934318]	uncertain significance	16	56510037	56510061	Human	1	name
152074004	CV1660562	single nucleotide variant	NM_031885.5(BBS2):c.21C>T (p.Thr7=)	Bardet-Biedl syndrome [RCV002169661]	likely benign	16	56519842	56519842	Human	1	name
8596488	CV19615	single nucleotide variant	NM_031885.5(BBS2):c.209= (p.Ser70=)	BARDET-BIEDL SYNDROME 2/6, DIGENIC [RCV000004838]\|Bardet-Biedl syndrome [RCV000860491]	pathogenic\|benign	16	56514589	56514589	Human	2	name
156311515	CV2087415	insertion	NM_031885.5(BBS2):c.535-4_535-3insA	Bardet-Biedl syndrome [RCV002857692]	uncertain significance	16	56510037	56510038	Human	1	name
405053033	CV2884090	single nucleotide variant	NM_031885.5(BBS2):c.24G>A (p.Leu8=)	Bardet-Biedl syndrome [RCV003522310]	likely benign	16	56519839	56519839	Human	1	name
405090479	CV3138187	single nucleotide variant	NM_031885.5(BBS2):c.27A>G (p.Lys9=)	Bardet-Biedl syndrome [RCV003834705]	likely benign	16	56519836	56519836	Human	1	name
38475793	CV941140	deletion	NM_031885.5(BBS2):c.804+1_804+14del	Bardet-Biedl syndrome [RCV001215345]\|not provided [RCV003229026]	likely pathogenic	16	56505936	56505949	Human	1	name
126773580	CV1012239	single nucleotide variant	NM_031885.5(BBS2):c.8T>C (p.Leu3Pro)	Bardet-Biedl syndrome 2 [RCV002486299]\|Bardet-Biedl syndrome [RCV001324414]	uncertain significance	16	56519855	56519855	Human	2	name
127251646	CV1082144	microsatellite	NM_031885.5(BBS2):c.2060-9_2060-7del	Bardet-Biedl syndrome [RCV001417833]	likely benign	16	56484874	56484876	Human		name
127271220	CV1082168	single nucleotide variant	NM_031885.5(BBS2):c.42C>T (p.Ile14=)	Bardet-Biedl syndrome [RCV001405281]	likely benign	16	56519821	56519821	Human	1	name
127259679	CV1103940	deletion	NM_031885.5(BBS2):c.2060-8_2060-5del	Bardet-Biedl syndrome [RCV001427646]	likely benign	16	56484872	56484875	Human	1	name
127294634	CV1125360	single nucleotide variant	NM_031885.5(BBS2):c.66G>T (p.Gly22=)	Bardet-Biedl syndrome [RCV001452286]	likely benign	16	56519797	56519797	Human	1	name
127324828	CV1146272	single nucleotide variant	NM_031885.5(BBS2):c.91C>T (p.Leu31=)	Bardet-Biedl syndrome [RCV001505773]\|not provided [RCV005256814]	likely benign	16	56519772	56519772	Human	1	name
127315941	CV1146273	single nucleotide variant	NM_031885.5(BBS2):c.75C>T (p.Asp25=)	Bardet-Biedl syndrome [RCV001502874]	likely benign	16	56519788	56519788	Human	1	name
151871304	CV1340585	single nucleotide variant	NM_031885.5(BBS2):c.4C>A (p.Leu2Met)	Bardet-Biedl syndrome [RCV001939839]	uncertain significance	16	56519859	56519859	Human	1	name
151887841	CV1409170	single nucleotide variant	NM_031885.5(BBS2):c.8T>A (p.Leu3Gln)	Bardet-Biedl syndrome [RCV001942472]	uncertain significance	16	56519855	56519855	Human	1	name
151713685	CV1476663	deletion	NM_031885.5(BBS2):c.1527+3_1527+6del	Bardet-Biedl syndrome [RCV001908525]	uncertain significance	16	56499772	56499775	Human	1	name
152156311	CV1585976	single nucleotide variant	NM_031885.5(BBS2):c.87G>A (p.Pro29=)	Bardet-Biedl syndrome [RCV002140223]	likely benign	16	56519776	56519776	Human	1	name
152150681	CV1605320	single nucleotide variant	NM_031885.5(BBS2):c.45C>T (p.Ser15=)	Bardet-Biedl syndrome [RCV002102180]	likely benign	16	56519818	56519818	Human	1	name
156124753	CV1892817	single nucleotide variant	NM_031885.5(BBS2):c.99C>G (p.Ala33=)	Bardet-Biedl syndrome [RCV003081589]	likely benign	16	56519764	56519764	Human	1	name
155958854	CV2029734	single nucleotide variant	NM_031885.5(BBS2):c.51A>T (p.Arg17=)	Bardet-Biedl syndrome [RCV002731076]	likely benign	16	56519812	56519812	Human	1	name
156229537	CV2048612	single nucleotide variant	NM_031885.5(BBS2):c.60C>T (p.Ala20=)	Bardet-Biedl syndrome [RCV002790943]	likely benign	16	56519803	56519803	Human	1	name
156396042	CV2178135	single nucleotide variant	NM_031885.5(BBS2):c.57G>A (p.Val19=)	Bardet-Biedl syndrome [RCV003051853]	likely benign	16	56519806	56519806	Human	1	name
405069245	CV2900997	deletion	NM_031885.5(BBS2):c.1911-986_1914del	Bardet-Biedl syndrome [RCV003523701]	likely pathogenic	16	56485735	56486724	Human	1	name
405085888	CV2958321	single nucleotide variant	NM_031885.5(BBS2):c.28C>T (p.Leu10=)	Bardet-Biedl syndrome [RCV003634431]	likely benign	16	56519835	56519835	Human	1	name
405090867	CV2988913	single nucleotide variant	NM_031885.5(BBS2):c.69C>T (p.Arg23=)	Bardet-Biedl syndrome [RCV003634816]	likely benign	16	56519794	56519794	Human	1	name
405152538	CV3135055	deletion	NM_031885.5(BBS2):c.535-16_535-14del	Bardet-Biedl syndrome [RCV003840167]	likely benign	16	56510048	56510050	Human	1	name
405263249	CV3188671	single nucleotide variant	NM_031885.5(BBS2):c.1A>G (p.Met1Val)	Retinal dystrophy [RCV003889735]	uncertain significance	16	56519862	56519862	Human	2	name
11623325	CV343442	deletion	NM_031885.5(BBS2):c.118-16_118-13del	Bardet-Biedl syndrome [RCV000371603]	conflicting interpretations of pathogenicity\|uncertain significance	16	56514693	56514696	Human	1	name
11624477	CV343445	single nucleotide variant	NM_031885.5(BBS2):c.78G>A (p.Gly26=)	Bardet-Biedl syndrome 2 [RCV000386685]\|Bardet-Biedl syndrome [RCV002061201]	likely benign\|uncertain significance	16	56519785	56519785	Human	2	name
408367997	CV3511612	single nucleotide variant	NM_031885.5(BBS2):c.51A>C (p.Arg17=)	BBS2-related disorder [RCV004733803]	likely benign	16	56519812	56519812	Human	1	name , trait , alternate_id
408386220	CV3528827	single nucleotide variant	NM_031885.5(BBS2):c.2T>G (p.Met1Arg)	not provided [RCV004772660]	pathogenic	16	56519861	56519861	Human		name
15153575	CV688627	single nucleotide variant	NM_031885.5(BBS2):c.30G>A (p.Leu10=)	Bardet-Biedl syndrome [RCV000867672]	likely benign	16	56519833	56519833	Human	1	name
126767918	CV1012238	single nucleotide variant	NM_031885.5(BBS2):c.117G>A (p.Lys39=)	Bardet-Biedl syndrome 2 [RCV005014410]\|Bardet-Biedl syndrome [RCV001321058]	likely pathogenic\|uncertain significance	16	56519746	56519746	Human	2	name
127270722	CV1103969	single nucleotide variant	NM_031885.5(BBS2):c.297T>C (p.Asn99=)	Bardet-Biedl syndrome [RCV001441542]	likely benign	16	56514501	56514501	Human	1	name
127307507	CV1125359	single nucleotide variant	NM_031885.5(BBS2):c.162A>G (p.Ala54=)	Bardet-Biedl syndrome [RCV001455804]	likely benign	16	56514636	56514636	Human	1	name
127316073	CV1146269	single nucleotide variant	NM_031885.5(BBS2):c.156C>T (p.Val52=)	Bardet-Biedl syndrome [RCV001502916]	likely benign	16	56514642	56514642	Human	1	name
152169764	CV1529348	single nucleotide variant	NM_031885.5(BBS2):c.267T>C (p.Tyr89=)	Bardet-Biedl syndrome [RCV002161550]	likely benign	16	56514531	56514531	Human	1	name
152060785	CV1540682	single nucleotide variant	NM_031885.5(BBS2):c.165C>T (p.Ser55=)	Bardet-Biedl syndrome [RCV002110087]	likely benign	16	56514633	56514633	Human	1	name
152031560	CV1548757	single nucleotide variant	NM_031885.5(BBS2):c.243C>A (p.Gly81=)	Bardet-Biedl syndrome [RCV002086395]	likely benign	16	56514555	56514555	Human	1	name
152171142	CV1552618	single nucleotide variant	NM_031885.5(BBS2):c.273C>A (p.Ala91=)	Bardet-Biedl syndrome [RCV002143353]	likely benign	16	56514525	56514525	Human	1	name
152064539	CV1606905	single nucleotide variant	NM_031885.5(BBS2):c.213T>A (p.Ile71=)	Bardet-Biedl syndrome [RCV002209135]	likely benign	16	56514585	56514585	Human	1	name
152121330	CV1613178	single nucleotide variant	NM_031885.5(BBS2):c.216C>T (p.Asn72=)	Bardet-Biedl syndrome 2 [RCV002494481]\|Bardet-Biedl syndrome [RCV002154297]	likely benign	16	56514582	56514582	Human	2	name
152175456	CV1614302	single nucleotide variant	NM_031885.5(BBS2):c.111G>T (p.Thr37=)	Bardet-Biedl syndrome [RCV002163591]	likely benign	16	56519752	56519752	Human	1	name
152175507	CV1614365	single nucleotide variant	NM_031885.5(BBS2):c.213T>C (p.Ile71=)	Bardet-Biedl syndrome [RCV002163642]	likely benign	16	56514585	56514585	Human	1	name
152139004	CV1645489	single nucleotide variant	NM_031885.5(BBS2):c.288A>G (p.Thr96=)	Bardet-Biedl syndrome [RCV002137929]	likely benign	16	56514510	56514510	Human	1	name
152165059	CV1658543	single nucleotide variant	NM_031885.5(BBS2):c.237T>A (p.Thr79=)	Bardet-Biedl syndrome [RCV002160373]	likely benign	16	56514561	56514561	Human	1	name
156272390	CV1957242	single nucleotide variant	NM_031885.5(BBS2):c.270T>C (p.Asp90=)	Bardet-Biedl syndrome [RCV002577204]	likely benign	16	56514528	56514528	Human	1	name
156395348	CV1984566	single nucleotide variant	NM_031885.5(BBS2):c.240A>G (p.Ala80=)	Bardet-Biedl syndrome [RCV002635429]	likely benign	16	56514558	56514558	Human	1	name
156185349	CV2102643	single nucleotide variant	NM_031885.5(BBS2):c.243C>T (p.Gly81=)	Bardet-Biedl syndrome 2 [RCV005019442]\|Bardet-Biedl syndrome [RCV002917280]	likely benign\|uncertain significance	16	56514555	56514555	Human	2	name
156231180	CV2118186	single nucleotide variant	NM_031885.5(BBS2):c.258G>A (p.Glu86=)	Bardet-Biedl syndrome [RCV002958516]	likely benign	16	56514540	56514540	Human	1	name
155955700	CV2120382	single nucleotide variant	NM_031885.5(BBS2):c.147C>T (p.Asn49=)	Bardet-Biedl syndrome [RCV002972110]	likely benign	16	56514651	56514651	Human	1	name
155981465	CV2163115	single nucleotide variant	NM_031885.5(BBS2):c.277T>C (p.Leu93=)	Bardet-Biedl syndrome [RCV003033901]	likely benign	16	56514521	56514521	Human	1	name
405063400	CV2857542	single nucleotide variant	NM_031885.5(BBS2):c.153T>C (p.His51=)	Bardet-Biedl syndrome [RCV003523291]	likely benign	16	56514645	56514645	Human	1	name
405079048	CV2912904	single nucleotide variant	NM_031885.5(BBS2):c.195T>C (p.Asp65=)	Bardet-Biedl syndrome [RCV003524401]	likely benign	16	56514603	56514603	Human	1	name
405057139	CV2932167	single nucleotide variant	NM_031885.5(BBS2):c.291G>A (p.Gln97=)	Bardet-Biedl syndrome [RCV003522660]	likely benign	16	56514507	56514507	Human	1	name
405089838	CV2977176	single nucleotide variant	NM_031885.5(BBS2):c.144G>A (p.Arg48=)	Bardet-Biedl syndrome [RCV003634732]	likely benign	16	56514654	56514654	Human	1	name
405103163	CV3119578	single nucleotide variant	NM_031885.5(BBS2):c.180C>T (p.Ser60=)	Bardet-Biedl syndrome [RCV003811840]	likely benign	16	56514618	56514618	Human	1	name
11616540	CV341917	single nucleotide variant	NM_031885.5(BBS2):c.111G>A (p.Thr37=)	BBS2-related disorder [RCV004732848]\|Bardet-Biedl syndrome 2 [RCV001094471]\|Bardet-Biedl syndrome [RCV000295686]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	56519752	56519752	Human	2	name , alternate_id
408368032	CV3510504	single nucleotide variant	NM_031885.5(BBS2):c.165C>G (p.Ser55=)	BBS2-related disorder [RCV004733778]\|Bardet-Biedl syndrome [RCV005103742]	likely benign	16	56514633	56514633	Human	2	name , alternate_id
408367981	CV3510895	single nucleotide variant	NM_031885.5(BBS2):c.273C>T (p.Ala91=)	BBS2-related disorder [RCV004733787]	likely benign	16	56514525	56514525	Human	1	name , trait , alternate_id
408368167	CV3517754	single nucleotide variant	NM_031885.5(BBS2):c.201T>A (p.Ser67=)	BBS2-related disorder [RCV004733967]	likely benign	16	56514597	56514597	Human	1	name , trait , alternate_id
597934119	CV3810861	duplication	NM_031885.5(BBS2):c.1397+9_1397+10dup	Bardet-Biedl syndrome [RCV005157570]	likely benign	16	56500843	56500844	Human	1	name
597925584	CV3840569	single nucleotide variant	NM_031885.5(BBS2):c.23T>C (p.Leu8Pro)	Bardet-Biedl syndrome [RCV005185040]	likely pathogenic	16	56519840	56519840	Human	1	name
13791074	CV547779	deletion	NM_031885.5(BBS2):c.55del (p.Val19fs)	Bardet-Biedl syndrome 2 [RCV000667044]	likely pathogenic	16	56519808	56519808	Human	1	name
15113607	CV770968	single nucleotide variant	NM_031885.5(BBS2):c.285G>A (p.Gly95=)	Bardet-Biedl syndrome [RCV001418451]	likely benign	16	56514513	56514513	Human	1	name
28893775	CV875526	single nucleotide variant	NM_031885.5(BBS2):c.247T>C (p.Leu83=)	Bardet-Biedl syndrome 2 [RCV001121840]\|Bardet-Biedl syndrome [RCV002556621]	likely benign\|uncertain significance	16	56514551	56514551	Human	2	name
126919443	CV1049702	single nucleotide variant	NM_031885.5(BBS2):c.68G>T (p.Arg23Leu)	Bardet-Biedl syndrome 2 [RCV001831323]\|Bardet-Biedl syndrome [RCV001373231]	uncertain significance	16	56519795	56519795	Human	2	name
127246955	CV1063686	deletion	NM_031885.5(BBS2):c.175del (p.Gln59fs)	Bardet-Biedl syndrome [RCV001384644]	pathogenic	16	56514623	56514623	Human	1	name
127254912	CV1063687	deletion	NM_031885.5(BBS2):c.110del (p.Thr37fs)	Bardet-Biedl syndrome [RCV001386237]	pathogenic	16	56519753	56519753	Human	1	name
127242433	CV1082159	single nucleotide variant	NM_031885.5(BBS2):c.912G>A (p.Gln304=)	Bardet-Biedl syndrome [RCV001415964]	likely benign	16	56502701	56502701	Human	1	name
127234496	CV1082160	single nucleotide variant	NM_031885.5(BBS2):c.873T>A (p.Gly291=)	Bardet-Biedl syndrome [RCV001414218]	likely benign	16	56502740	56502740	Human	1	name
127236658	CV1082166	single nucleotide variant	NM_031885.5(BBS2):c.429T>C (p.Ala143=)	Bardet-Biedl syndrome [RCV001414712]	likely benign	16	56511201	56511201	Human	1	name
127274162	CV1103960	single nucleotide variant	NM_031885.5(BBS2):c.840C>T (p.Ile280=)	Bardet-Biedl syndrome [RCV001431865]	likely benign	16	56502773	56502773	Human	1	name
127262418	CV1103961	single nucleotide variant	NM_031885.5(BBS2):c.720G>A (p.Ser240=)	Bardet-Biedl syndrome [RCV001438947]\|not provided [RCV003416338]	likely benign	16	56506034	56506034	Human	1	name
127236211	CV1103966	single nucleotide variant	NM_031885.5(BBS2):c.531A>G (p.Lys177=)	Bardet-Biedl syndrome [RCV001422448]	likely benign	16	56510862	56510862	Human	1	name
127273523	CV1103967	single nucleotide variant	NM_031885.5(BBS2):c.501C>G (p.Ala167=)	Bardet-Biedl syndrome [RCV001442573]	likely benign	16	56510892	56510892	Human	1	name
127254892	CV1103968	single nucleotide variant	NM_031885.5(BBS2):c.366A>C (p.Ala122=)	Bardet-Biedl syndrome [RCV001426395]	likely benign	16	56511264	56511264	Human	1	name
127299282	CV1125336	deletion	NM_031885.5(BBS2):c.2059+12_2059+13del	Bardet-Biedl syndrome 2 [RCV002495664]\|Bardet-Biedl syndrome [RCV001460752]	likely benign	16	56485577	56485578	Human	2	name
127327274	CV1125346	single nucleotide variant	NM_031885.5(BBS2):c.999A>T (p.Ala333=)	Bardet-Biedl syndrome [RCV001469023]	likely benign	16	56502398	56502398	Human	1	name
127335886	CV1125347	single nucleotide variant	NM_031885.5(BBS2):c.993C>T (p.Thr331=)	Bardet-Biedl syndrome [RCV001474573]	likely benign	16	56502404	56502404	Human	1	name
127295238	CV1125349	single nucleotide variant	NM_031885.5(BBS2):c.726T>C (p.Asn242=)	Bardet-Biedl syndrome [RCV001477051]	likely benign	16	56506028	56506028	Human	1	name
127301849	CV1125350	single nucleotide variant	NM_031885.5(BBS2):c.684T>A (p.Val228=)	Bardet-Biedl syndrome [RCV001461491]	likely benign	16	56506153	56506153	Human	1	name
127298131	CV1125351	single nucleotide variant	NM_031885.5(BBS2):c.675A>C (p.Thr225=)	Bardet-Biedl syndrome [RCV001453216]	likely benign	16	56506162	56506162	Human	1	name
127287424	CV1125352	single nucleotide variant	NM_031885.5(BBS2):c.657T>C (p.Tyr219=)	Bardet-Biedl syndrome [RCV001450104]	likely benign	16	56506180	56506180	Human	1	name
127305275	CV1125353	single nucleotide variant	NM_031885.5(BBS2):c.558T>C (p.Phe186=)	BBS2-related disorder [RCV004733327]\|Bardet-Biedl syndrome [RCV001455223]	likely benign	16	56510011	56510011	Human	2	name , alternate_id
127300358	CV1125355	single nucleotide variant	NM_031885.5(BBS2):c.516T>C (p.Asp172=)	Bardet-Biedl syndrome [RCV001461081]	likely benign	16	56510877	56510877	Human	1	name
127332939	CV1125357	single nucleotide variant	NM_031885.5(BBS2):c.453A>G (p.Gly151=)	Bardet-Biedl syndrome [RCV001472585]	likely benign	16	56511177	56511177	Human	1	name
127309757	CV1146260	single nucleotide variant	NM_031885.5(BBS2):c.975G>A (p.Arg325=)	Bardet-Biedl syndrome [RCV001480971]	likely benign	16	56502422	56502422	Human	1	name
127317418	CV1146262	single nucleotide variant	NM_031885.5(BBS2):c.888T>C (p.Asp296=)	Bardet-Biedl syndrome [RCV001483151]	likely benign	16	56502725	56502725	Human	1	name
127305901	CV1146263	single nucleotide variant	NM_031885.5(BBS2):c.882G>A (p.Glu294=)	Bardet-Biedl syndrome [RCV001479871]	likely benign	16	56502731	56502731	Human	1	name
127324262	CV1146265	single nucleotide variant	NM_031885.5(BBS2):c.573T>C (p.Phe191=)	Bardet-Biedl syndrome [RCV001485441]	likely benign	16	56509996	56509996	Human	1	name
127328874	CV1146266	single nucleotide variant	NM_031885.5(BBS2):c.483C>T (p.Asp161=)	Bardet-Biedl syndrome [RCV001487032]	likely benign	16	56510910	56510910	Human	1	name
127330430	CV1146267	single nucleotide variant	NM_031885.5(BBS2):c.441C>T (p.Phe147=)	Bardet-Biedl syndrome [RCV001488156]	likely benign	16	56511189	56511189	Human	1	name
127291014	CV1146268	single nucleotide variant	NM_031885.5(BBS2):c.432G>T (p.Leu144=)	Bardet-Biedl syndrome [RCV001496115]	likely benign	16	56511198	56511198	Human	1	name
150520953	CV1290001	single nucleotide variant	NM_031885.5(BBS2):c.354T>C (p.Asp118=)	not provided [RCV001730395]\|not specified [RCV001730396]	benign\|likely benign	16	56511276	56511276	Human		name
151763036	CV1447452	single nucleotide variant	NM_031885.5(BBS2):c.963G>A (p.Thr321=)	BBS2-related disorder [RCV004538577]\|Bardet-Biedl syndrome 2 [RCV005016739]\|Bardet-Biedl syndrome [RCV001895556]	likely benign\|uncertain significance	16	56502434	56502434	Human	2	name , alternate_id
151739544	CV1454855	deletion	NM_031885.5(BBS2):c.113del (p.Gly38fs)	Bardet-Biedl syndrome [RCV001946964]	pathogenic	16	56519750	56519750	Human	1	name
151867485	CV1469160	single nucleotide variant	NM_031885.5(BBS2):c.61A>G (p.Ile21Val)	Bardet-Biedl syndrome 2 [RCV002507806]\|Bardet-Biedl syndrome [RCV002018526]	uncertain significance	16	56519802	56519802	Human	2	name
151840164	CV1493063	deletion	NM_031885.5(BBS2):c.255del (p.Glu86fs)	Bardet-Biedl syndrome 2 [RCV003464199]\|Bardet-Biedl syndrome 2 [RCV005016725]\|Bardet-Biedl syndrome [RCV001881251]	pathogenic\|likely pathogenic	16	56514543	56514543	Human	2	name
152175705	CV1527096	single nucleotide variant	NM_031885.5(BBS2):c.822C>T (p.Asp274=)	Bardet-Biedl syndrome [RCV002163841]	likely benign	16	56502791	56502791	Human	1	name
152097759	CV1531552	single nucleotide variant	NM_031885.5(BBS2):c.945G>A (p.Arg315=)	BBS2-related disorder [RCV004733497]\|Bardet-Biedl syndrome [RCV002213593]\|Retinal dystrophy [RCV003889101]	likely benign\|uncertain significance	16	56502452	56502452	Human	4	name , alternate_id
152128141	CV1534202	single nucleotide variant	NM_031885.5(BBS2):c.795C>T (p.Ser265=)	Bardet-Biedl syndrome [RCV002136590]	likely benign	16	56505959	56505959	Human	1	name
152105393	CV1536717	single nucleotide variant	NM_031885.5(BBS2):c.405T>G (p.Leu135=)	Bardet-Biedl syndrome [RCV002173644]	likely benign	16	56511225	56511225	Human	1	name
152109918	CV1536889	single nucleotide variant	NM_031885.5(BBS2):c.810T>C (p.Asp270=)	Bardet-Biedl syndrome 2 [RCV002494125]\|Bardet-Biedl syndrome [RCV002215337]	likely benign	16	56502803	56502803	Human	2	name
152146764	CV1545757	single nucleotide variant	NM_031885.5(BBS2):c.711A>G (p.Arg237=)	Bardet-Biedl syndrome [RCV002157553]	likely benign	16	56506126	56506126	Human	1	name
152089971	CV1563199	single nucleotide variant	NM_031885.5(BBS2):c.960C>G (p.Gly320=)	BBS2-related disorder [RCV004733485]\|Bardet-Biedl syndrome [RCV002113942]	likely benign	16	56502437	56502437	Human	2	name , alternate_id
152065687	CV1564952	single nucleotide variant	NM_031885.5(BBS2):c.768A>C (p.Gly256=)	Bardet-Biedl syndrome [RCV002090879]	likely benign	16	56505986	56505986	Human	1	name
152035859	CV1590500	single nucleotide variant	NM_031885.5(BBS2):c.816A>G (p.Arg272=)	Bardet-Biedl syndrome [RCV002205562]	likely benign	16	56502797	56502797	Human	1	name
152102714	CV1591374	single nucleotide variant	NM_031885.5(BBS2):c.501C>T (p.Ala167=)	Bardet-Biedl syndrome [RCV002195755]	likely benign	16	56510892	56510892	Human	1	name
152102895	CV1605998	single nucleotide variant	NM_031885.5(BBS2):c.681A>G (p.Gly227=)	Bardet-Biedl syndrome [RCV002095761]	likely benign	16	56506156	56506156	Human	1	name
152163302	CV1606468	deletion	NM_031885.5(BBS2):c.1660-17_1660-16del	Bardet-Biedl syndrome [RCV002181312]	likely benign	16	56497896	56497897	Human	1	name
152164836	CV1611178	single nucleotide variant	NM_031885.5(BBS2):c.807T>C (p.Val269=)	Bardet-Biedl syndrome [RCV002141604]	likely benign	16	56502806	56502806	Human	1	name
152149716	CV1616889	single nucleotide variant	NM_031885.5(BBS2):c.621C>T (p.Thr207=)	Bardet-Biedl syndrome [RCV002201780]	likely benign	16	56506216	56506216	Human	1	name
152104772	CV1633852	single nucleotide variant	NM_031885.5(BBS2):c.990C>T (p.Asp330=)	Bardet-Biedl syndrome [RCV002196006]	likely benign	16	56502407	56502407	Human	1	name
152073674	CV1638044	single nucleotide variant	NM_031885.5(BBS2):c.864A>C (p.Ala288=)	Bardet-Biedl syndrome [RCV002192129]	likely benign	16	56502749	56502749	Human	1	name
152159975	CV1649970	single nucleotide variant	NM_031885.5(BBS2):c.342A>G (p.Arg114=)	Bardet-Biedl syndrome 2 [RCV002494027]\|Bardet-Biedl syndrome [RCV002159466]	likely benign	16	56514456	56514456	Human	2	name
156138309	CV1888059	single nucleotide variant	NM_031885.5(BBS2):c.633C>T (p.Pro211=)	Bardet-Biedl syndrome [RCV003082103]	likely benign	16	56506204	56506204	Human	1	name
156373669	CV1921137	single nucleotide variant	NM_031885.5(BBS2):c.801G>T (p.Gly267=)	Bardet-Biedl syndrome [RCV002603402]	likely benign\|uncertain significance	16	56505953	56505953	Human	1	name
156375427	CV1930414	single nucleotide variant	NM_031885.5(BBS2):c.339C>T (p.Tyr113=)	Bardet-Biedl syndrome [RCV002633786]	likely benign	16	56514459	56514459	Human	1	name
156441825	CV1941474	single nucleotide variant	NM_031885.5(BBS2):c.49C>G (p.Arg17Gly)	Bardet-Biedl syndrome [RCV003112158]	uncertain significance	16	56519814	56519814	Human	1	name
10052238	CV194521	single nucleotide variant	NM_031885.5(BBS2):c.525A>G (p.Gly175=)	Bardet-Biedl syndrome 2 [RCV001273915]\|Bardet-Biedl syndrome [RCV001083114]\|not provided [RCV000178373]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	56510868	56510868	Human	2	name
156445752	CV1951462	single nucleotide variant	NM_031885.5(BBS2):c.381A>G (p.Thr127=)	BBS2-related disorder [RCV004733610]\|Bardet-Biedl syndrome [RCV003116709]	likely benign	16	56511249	56511249	Human	2	name , alternate_id
8596484	CV19609	single nucleotide variant	NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter)	BARDET-BIEDL SYNDROME 2/6, DIGENIC [RCV000004832]\|BBS2-related disorder [RCV004732529]\|Bardet-Biedl syndrome 2 [RCV000412476]\|Bardet-Biedl syndrome 2 [RCV000762970]\|Bardet-Biedl syndrome [RCV000589350]\|Retinal dystrophy [RCV001074960]\|Retinitis pigmentosa [RCV00 ... (more) 0787792]	pathogenic\|likely pathogenic	16	56519791	56519791	Human	7	name , alternate_id
156125171	CV2012339	single nucleotide variant	NM_031885.5(BBS2):c.519T>C (p.Gly173=)	BBS2-related disorder [RCV004733524]\|Bardet-Biedl syndrome [RCV002696192]	likely benign	16	56510874	56510874	Human	2	name , alternate_id
155934984	CV2023806	single nucleotide variant	NM_031885.5(BBS2):c.861T>C (p.Ser287=)	Bardet-Biedl syndrome [RCV002774804]\|not provided [RCV003409923]	likely benign	16	56502752	56502752	Human	1	name
156237059	CV2036668	single nucleotide variant	NM_031885.5(BBS2):c.79A>C (p.Thr27Pro)	Bardet-Biedl syndrome 2 [RCV005019395]\|Bardet-Biedl syndrome [RCV002805536]	pathogenic\|likely pathogenic	16	56519784	56519784	Human	2	name
156224753	CV2037875	single nucleotide variant	NM_031885.5(BBS2):c.750T>C (p.Phe250=)	Bardet-Biedl syndrome [RCV002790767]	likely benign	16	56506004	56506004	Human	1	name
10406258	CV205603	single nucleotide variant	NM_031885.5(BBS2):c.98C>A (p.Ala33Asp)	BBS2-related disorder [RCV004539761]\|Bardet-Biedl syndrome 2 [RCV000675055]\|Bardet-Biedl syndrome [RCV001380380]\|Retinitis pigmentosa 74 [RCV000190987]\|Retinitis pigmentosa [RCV001002878]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	16	56519765	56519765	Human	5	name , alternate_id
155952677	CV2058853	single nucleotide variant	NM_031885.5(BBS2):c.312T>C (p.Asp104=)	Bardet-Biedl syndrome [RCV002816353]	likely benign	16	56514486	56514486	Human	1	name
156270733	CV2093653	single nucleotide variant	NM_031885.5(BBS2):c.672C>G (p.Gly224=)	Bardet-Biedl syndrome [RCV002877594]	likely benign	16	56506165	56506165	Human	1	name
156247588	CV2101759	single nucleotide variant	NM_031885.5(BBS2):c.528G>A (p.Lys176=)	Bardet-Biedl syndrome [RCV002895145]	likely benign	16	56510865	56510865	Human	1	name
11039884	CV214079	deletion	NM_031885.5(BBS2):c.263del (p.Gly88fs)	Bardet-Biedl syndrome 2 [RCV000207681]\|Bardet-Biedl syndrome 2 [RCV005016557]	pathogenic	16	56514535	56514535	Human	1	name
156027092	CV2145779	single nucleotide variant	NM_031885.5(BBS2):c.660C>G (p.Ala220=)	Bardet-Biedl syndrome [RCV003018510]	likely benign	16	56506177	56506177	Human	1	name
156110388	CV2145998	single nucleotide variant	NM_031885.5(BBS2):c.399C>A (p.Ser133=)	BBS2-related disorder [RCV004733555]\|Bardet-Biedl syndrome [RCV003021386]	likely benign	16	56511231	56511231	Human	2	name , alternate_id
156044497	CV2157619	single nucleotide variant	NM_031885.5(BBS2):c.55G>C (p.Val19Leu)	Bardet-Biedl syndrome [RCV003019183]	uncertain significance	16	56519808	56519808	Human	1	name
156240582	CV2177093	single nucleotide variant	NM_031885.5(BBS2):c.522T>C (p.Asp174=)	Bardet-Biedl syndrome [RCV003043429]	likely benign	16	56510871	56510871	Human	1	name
156377471	CV2189175	single nucleotide variant	NM_031885.5(BBS2):c.786T>G (p.Thr262=)	Bardet-Biedl syndrome [RCV003050229]	likely benign	16	56505968	56505968	Human	1	name
401946486	CV2833733	deletion	NM_031885.5(BBS2):c.157del (p.Ser53fs)	Bardet-Biedl syndrome 2 [RCV003465043]	likely pathogenic	16	56514641	56514641	Human	1	name
401946526	CV2833749	duplication	NM_031885.5(BBS2):c.184dup (p.Leu62fs)	Bardet-Biedl syndrome 2 [RCV003465059]\|Bardet-Biedl syndrome 2 [RCV005021987]	likely pathogenic	16	56514613	56514614	Human	1	name
405063283	CV2857453	single nucleotide variant	NM_031885.5(BBS2):c.306T>C (p.Ala102=)	Bardet-Biedl syndrome [RCV003523281]	likely benign	16	56514492	56514492	Human	1	name
405071981	CV2861781	single nucleotide variant	NM_031885.5(BBS2):c.618C>T (p.Val206=)	Bardet-Biedl syndrome [RCV003523913]	likely benign	16	56506219	56506219	Human	1	name
405072685	CV2865656	single nucleotide variant	NM_031885.5(BBS2):c.672C>T (p.Gly224=)	Bardet-Biedl syndrome [RCV003523962]	likely benign	16	56506165	56506165	Human	1	name
405073182	CV2865948	single nucleotide variant	NM_031885.5(BBS2):c.486T>C (p.Asn162=)	Bardet-Biedl syndrome [RCV003523972]	likely benign	16	56510907	56510907	Human	1	name
405076816	CV2867536	single nucleotide variant	NM_031885.5(BBS2):c.405T>C (p.Leu135=)	Bardet-Biedl syndrome [RCV003524218]	likely benign	16	56511225	56511225	Human	1	name
405052856	CV2869887	single nucleotide variant	NM_031885.5(BBS2):c.960C>T (p.Gly320=)	Bardet-Biedl syndrome [RCV003522297]	likely benign	16	56502437	56502437	Human	1	name
405075489	CV2873902	single nucleotide variant	NM_031885.5(BBS2):c.420C>T (p.Gly140=)	Bardet-Biedl syndrome [RCV003524130]	likely benign	16	56511210	56511210	Human	1	name
405068222	CV2900546	single nucleotide variant	NM_031885.5(BBS2):c.801G>A (p.Gly267=)	Bardet-Biedl syndrome [RCV003523632]	likely benign	16	56505953	56505953	Human	1	name
405068385	CV2900789	single nucleotide variant	NM_031885.5(BBS2):c.564C>T (p.Ile188=)	Bardet-Biedl syndrome [RCV003523643]	likely benign	16	56510005	56510005	Human	1	name
405069116	CV2900927	single nucleotide variant	NM_031885.5(BBS2):c.813T>C (p.Ala271=)	Bardet-Biedl syndrome [RCV003523692]	likely benign	16	56502800	56502800	Human	1	name
405068755	CV2907042	single nucleotide variant	NM_031885.5(BBS2):c.780G>A (p.Leu260=)	Bardet-Biedl syndrome [RCV003523667]	likely benign	16	56505974	56505974	Human	1	name
405079319	CV2908896	single nucleotide variant	NM_031885.5(BBS2):c.357G>T (p.Gly119=)	Bardet-Biedl syndrome [RCV003524426]	likely benign	16	56511273	56511273	Human	1	name
404986098	CV2914043	single nucleotide variant	NM_031885.5(BBS2):c.462C>A (p.Leu154=)	Bardet-Biedl syndrome [RCV003524529]	likely benign	16	56511168	56511168	Human	1	name
404986807	CV2917559	single nucleotide variant	NM_031885.5(BBS2):c.666C>T (p.Ser222=)	Bardet-Biedl syndrome [RCV003524634]	likely benign	16	56506171	56506171	Human	1	name
405079816	CV2946746	single nucleotide variant	NM_031885.5(BBS2):c.495C>T (p.Ser165=)	Bardet-Biedl syndrome [RCV003633763]	likely benign	16	56510898	56510898	Human	1	name
405079967	CV2949806	single nucleotide variant	NM_031885.5(BBS2):c.705C>T (p.Tyr235=)	Bardet-Biedl syndrome [RCV003633909]	likely benign	16	56506132	56506132	Human	1	name
405087461	CV2963889	single nucleotide variant	NM_031885.5(BBS2):c.723A>G (p.Lys241=)	Bardet-Biedl syndrome [RCV003634560]	likely benign	16	56506031	56506031	Human	1	name
405087886	CV2971315	single nucleotide variant	NM_031885.5(BBS2):c.564C>A (p.Ile188=)	Bardet-Biedl syndrome [RCV003634571]	likely benign	16	56510005	56510005	Human	1	name
405088453	CV2972286	single nucleotide variant	NM_031885.5(BBS2):c.780G>C (p.Leu260=)	Bardet-Biedl syndrome [RCV003634620]	likely benign	16	56505974	56505974	Human	1	name
405088029	CV2974702	single nucleotide variant	NM_031885.5(BBS2):c.633C>G (p.Pro211=)	Bardet-Biedl syndrome [RCV003634585]	likely benign	16	56506204	56506204	Human	1	name
405088338	CV2975054	single nucleotide variant	NM_031885.5(BBS2):c.823C>A (p.Arg275=)	Bardet-Biedl syndrome [RCV003634610]	likely benign	16	56502790	56502790	Human	1	name
405090504	CV2978097	single nucleotide variant	NM_031885.5(BBS2):c.654T>C (p.Gly218=)	Bardet-Biedl syndrome [RCV003634786]	likely benign	16	56506183	56506183	Human	1	name
405091818	CV2987207	single nucleotide variant	NM_031885.5(BBS2):c.588T>C (p.Ile196=)	Bardet-Biedl syndrome [RCV003634894]	likely benign	16	56509981	56509981	Human	1	name
405094409	CV3004281	deletion	NM_031885.5(BBS2):c.1660-13_1660-11del	Bardet-Biedl syndrome [RCV003635155]	likely benign	16	56497891	56497893	Human	1	name
405094730	CV3008409	single nucleotide variant	NM_031885.5(BBS2):c.615A>T (p.Ile205=)	Bardet-Biedl syndrome [RCV003635188]	likely benign	16	56506222	56506222	Human	1	name
405069799	CV3022621	single nucleotide variant	NM_031885.5(BBS2):c.969G>A (p.Glu323=)	Bardet-Biedl syndrome [RCV003633045]	likely benign	16	56502428	56502428	Human	1	name
405070108	CV3029566	single nucleotide variant	NM_031885.5(BBS2):c.315C>G (p.Val105=)	Bardet-Biedl syndrome [RCV003633067]	likely benign	16	56514483	56514483	Human	1	name
405072417	CV3035611	single nucleotide variant	NM_031885.5(BBS2):c.399C>T (p.Ser133=)	Bardet-Biedl syndrome [RCV003633232]	likely benign	16	56511231	56511231	Human	1	name
405153273	CV3163068	single nucleotide variant	NM_031885.5(BBS2):c.318C>T (p.Tyr106=)	Bardet-Biedl syndrome [RCV003856511]	likely benign	16	56514480	56514480	Human	1	name
11622714	CV325833	single nucleotide variant	NM_031885.5(BBS2):c.837C>T (p.Val279=)	Bardet-Biedl syndrome 2 [RCV000363830]\|Bardet-Biedl syndrome [RCV001401813]	likely benign\|uncertain significance	16	56502776	56502776	Human	2	name
11621638	CV325836	single nucleotide variant	NM_031885.5(BBS2):c.86C>T (p.Pro29Leu)	BBS2-related disorder [RCV004732849]\|Bardet-Biedl syndrome 2 [RCV000666462]\|Retinal dystrophy [RCV003888750]	uncertain significance	16	56519777	56519777	Human	3	name , alternate_id
11650441	CV325838	single nucleotide variant	NM_031885.5(BBS2):c.58G>A (p.Ala20Thr)	Bardet-Biedl syndrome 2 [RCV000292388]	uncertain significance	16	56519805	56519805	Human	1	name
11618711	CV335456	single nucleotide variant	NM_031885.5(BBS2):c.327G>A (p.Ser109=)	BBS2-related disorder [RCV004732847]\|Bardet-Biedl syndrome 2 [RCV000667692]\|Bardet-Biedl syndrome [RCV001239194]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	56514471	56514471	Human	2	name , alternate_id
11622420	CV341913	single nucleotide variant	NM_031885.5(BBS2):c.744T>C (p.His248=)	Bardet-Biedl syndrome 2 [RCV001094338]\|Bardet-Biedl syndrome [RCV000360271]\|Retinal dystrophy [RCV003888749]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	56506010	56506010	Human	4	name
408382778	CV3503482	single nucleotide variant	NM_031885.5(BBS2):c.65G>A (p.Gly22Glu)	BBS2-related disorder [RCV004730006]	uncertain significance	16	56519798	56519798	Human	1	name , trait , alternate_id
408367940	CV3509191	single nucleotide variant	NM_031885.5(BBS2):c.459T>C (p.Asp153=)	BBS2-related disorder [RCV004733742]	likely benign	16	56511171	56511171	Human	1	name , trait , alternate_id
597750329	CV3705087	deletion	NM_031885.5(BBS2):c.254del (p.Pro85fs)	Bardet-Biedl syndrome 2 [RCV005015649]	likely pathogenic	16	56514544	56514544	Human	1	name
597750358	CV3705092	single nucleotide variant	NM_031885.5(BBS2):c.76G>A (p.Gly26Arg)	Bardet-Biedl syndrome 2 [RCV005015654]	uncertain significance	16	56519787	56519787	Human	1	name
597875029	CV3747502	single nucleotide variant	NM_031885.5(BBS2):c.301T>C (p.Leu101=)	Bardet-Biedl syndrome [RCV005069186]	likely benign	16	56514497	56514497	Human	1	name
597855396	CV3821747	deletion	NM_031885.5(BBS2):c.184del (p.Leu62fs)	Bardet-Biedl syndrome [RCV005174225]	pathogenic	16	56514614	56514614	Human	1	name
597872007	CV3849420	single nucleotide variant	NM_031885.5(BBS2):c.873T>G (p.Gly291=)	Bardet-Biedl syndrome [RCV005197601]	likely benign	16	56502740	56502740	Human	1	name
597914669	CV3851156	single nucleotide variant	NM_031885.5(BBS2):c.591G>A (p.Val197=)	Bardet-Biedl syndrome [RCV005204124]	likely benign	16	56509978	56509978	Human	1	name
597903122	CV3851580	single nucleotide variant	NM_031885.5(BBS2):c.717A>G (p.Lys239=)	Bardet-Biedl syndrome [RCV005202357]	uncertain significance	16	56506120	56506120	Human	1	name
13791097	CV547774	single nucleotide variant	NM_031885.5(BBS2):c.471G>A (p.Thr157=)	Bardet-Biedl syndrome 2 [RCV000667073]\|Bardet-Biedl syndrome [RCV002532060]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	16	56511159	56511159	Human	2	name
14740261	CV644766	single nucleotide variant	NM_031885.5(BBS2):c.642C>T (p.Gly214=)	BBS2-related disorder [RCV004538101]\|Bardet-Biedl syndrome 2 [RCV001119863]\|Bardet-Biedl syndrome [RCV000805280]\|Retinal dystrophy [RCV004818040]	likely benign\|uncertain significance	16	56506195	56506195	Human	4	name , alternate_id
15117590	CV684611	single nucleotide variant	NM_031885.5(BBS2):c.382T>C (p.Leu128=)	Bardet-Biedl syndrome 2 [RCV001274370]\|Bardet-Biedl syndrome 2 [RCV002478950]\|Bardet-Biedl syndrome [RCV001485046]	likely benign	16	56511248	56511248	Human	2	name
15141197	CV688624	single nucleotide variant	NM_031885.5(BBS2):c.870C>T (p.Ala290=)	Bardet-Biedl syndrome [RCV000865312]\|not provided [RCV003884758]	likely benign	16	56502743	56502743	Human	1	name
15162421	CV688625	single nucleotide variant	NM_031885.5(BBS2):c.819T>C (p.Ser273=)	Bardet-Biedl syndrome 2 [RCV001825745]\|Bardet-Biedl syndrome [RCV001411234]	likely benign	16	56502794	56502794	Human	2	name
15121052	CV693903	single nucleotide variant	NM_031885.5(BBS2):c.783A>C (p.Ile261=)	Bardet-Biedl syndrome 2 [RCV001273913]\|Bardet-Biedl syndrome [RCV000874173]\|Retinal dystrophy [RCV003890000]	likely benign\|uncertain significance	16	56505971	56505971	Human	4	name
15134786	CV755252	single nucleotide variant	NM_031885.5(BBS2):c.537T>A (p.Leu179=)	Bardet-Biedl syndrome [RCV000920745]	likely benign	16	56510032	56510032	Human	1	name
15124071	CV770965	single nucleotide variant	NM_031885.5(BBS2):c.984C>T (p.Leu328=)	BBS2-related disorder [RCV004733093]\|Bardet-Biedl syndrome 2 [RCV001273852]\|Bardet-Biedl syndrome [RCV000940960]	likely benign	16	56502413	56502413	Human	2	name , alternate_id
15146835	CV770966	single nucleotide variant	NM_031885.5(BBS2):c.831G>A (p.Gly277=)	BBS2-related disorder [RCV004733095]\|not provided [RCV000944808]	likely benign	16	56502782	56502782	Human	1	name , alternate_id
15188264	CV770967	single nucleotide variant	NM_031885.5(BBS2):c.627T>C (p.Leu209=)	Bardet-Biedl syndrome [RCV000931899]	likely benign	16	56506210	56506210	Human	1	name
28888198	CV875524	single nucleotide variant	NM_031885.5(BBS2):c.603A>C (p.Thr201=)	BBS2-related disorder [RCV004545073]\|Bardet-Biedl syndrome 2 [RCV001119864]\|Bardet-Biedl syndrome [RCV001503890]	likely benign\|uncertain significance	16	56509966	56509966	Human	2	name , alternate_id
28888203	CV875525	single nucleotide variant	NM_031885.5(BBS2):c.408G>A (p.Ala136=)	Bardet-Biedl syndrome 2 [RCV001119865]\|Bardet-Biedl syndrome [RCV001431197]	likely benign\|uncertain significance	16	56511222	56511222	Human	2	name
38489648	CV927865	single nucleotide variant	NM_031885.5(BBS2):c.68G>C (p.Arg23Pro)	Bardet-Biedl syndrome [RCV001221796]	uncertain significance	16	56519795	56519795	Human	1	name
38497005	CV957814	single nucleotide variant	NM_031885.5(BBS2):c.35A>G (p.His12Arg)	Bardet-Biedl syndrome 2 [RCV001835146]\|Bardet-Biedl syndrome [RCV001242913]	uncertain significance	16	56519828	56519828	Human	2	name
126730460	CV996998	single nucleotide variant	NM_031885.5(BBS2):c.55G>A (p.Val19Met)	Bardet-Biedl syndrome 2 [RCV001830201]\|Bardet-Biedl syndrome [RCV001303734]	uncertain significance	16	56519808	56519808	Human	2	name
8643117	CV102100	single nucleotide variant	NM_031885.5(BBS2):c.1413A>C (p.Val471=)	Bardet-Biedl syndrome 1 [RCV000709676]\|Bardet-Biedl syndrome 2 [RCV001094292]\|Bardet-Biedl syndrome 2 [RCV002498433]\|Bardet-Biedl syndrome [RCV000205379]\|Retinitis pigmentosa 74 [RCV001533780]\|not provided [RCV004704845]\|not specified [RCV000082284]	benign\|likely benign\|conflicting interpretations of pathogenicity	16	56499892	56499892	Human	4	name
126727069	CV1032728	single nucleotide variant	NM_031885.5(BBS2):c.239C>T (p.Ala80Val)	Bardet-Biedl syndrome [RCV001348618]	uncertain significance	16	56514559	56514559	Human	1	name
126764537	CV1032729	single nucleotide variant	NM_031885.5(BBS2):c.119T>G (p.Val40Gly)	Bardet-Biedl syndrome [RCV001341690]	uncertain significance	16	56514679	56514679	Human	1	name
126921257	CV1049701	single nucleotide variant	NM_031885.5(BBS2):c.116A>G (p.Lys39Arg)	Bardet-Biedl syndrome 2 [RCV002488187]\|Bardet-Biedl syndrome [RCV001374287]	uncertain significance	16	56519747	56519747	Human	2	name
127263792	CV1063682	deletion	NM_031885.5(BBS2):c.892del (p.Arg298fs)	Bardet-Biedl syndrome [RCV001381060]	pathogenic	16	56502721	56502721	Human	1	name
127241495	CV1063684	deletion	NM_031885.5(BBS2):c.437del (p.Gly146fs)	Bardet-Biedl syndrome 2 [RCV002307740]\|Bardet-Biedl syndrome [RCV001383660]	pathogenic\|likely pathogenic	16	56511193	56511193	Human	2	name
127231818	CV1082142	single nucleotide variant	NM_031885.5(BBS2):c.2106T>C (p.Ile702=)	BBS2-related disorder [RCV004540280]\|Bardet-Biedl syndrome [RCV001413230]	likely benign	16	56484821	56484821	Human	2	name , alternate_id
127237119	CV1082146	single nucleotide variant	NM_031885.5(BBS2):c.1944T>C (p.Tyr648=)	Bardet-Biedl syndrome [RCV001397047]	likely benign	16	56485705	56485705	Human	1	name
127262921	CV1082147	single nucleotide variant	NM_031885.5(BBS2):c.1932T>C (p.Tyr644=)	Bardet-Biedl syndrome [RCV001402821]	likely benign	16	56485717	56485717	Human	1	name
127237747	CV1082150	single nucleotide variant	NM_031885.5(BBS2):c.1558T>C (p.Leu520=)	Bardet-Biedl syndrome [RCV001414990]	likely benign	16	56498538	56498538	Human	1	name
127259108	CV1082151	single nucleotide variant	NM_031885.5(BBS2):c.1551C>T (p.Asn517=)	Bardet-Biedl syndrome [RCV001419696]	likely benign	16	56498545	56498545	Human	1	name
127246876	CV1082153	single nucleotide variant	NM_031885.5(BBS2):c.1422G>T (p.Ser474=)	Bardet-Biedl syndrome [RCV001399045]	likely benign	16	56499883	56499883	Human	1	name
127275320	CV1082154	single nucleotide variant	NM_031885.5(BBS2):c.1296C>T (p.Pro432=)	Bardet-Biedl syndrome [RCV001406686]	likely benign	16	56500955	56500955	Human	1	name
127282646	CV1082155	single nucleotide variant	NM_031885.5(BBS2):c.1272A>C (p.Thr424=)	Bardet-Biedl syndrome [RCV001411249]	likely benign	16	56500979	56500979	Human	1	name
127276631	CV1082157	single nucleotide variant	NM_031885.5(BBS2):c.1155C>G (p.Thr385=)	Bardet-Biedl syndrome [RCV001407230]	likely benign	16	56501423	56501423	Human	1	name
127272504	CV1103939	single nucleotide variant	NM_031885.5(BBS2):c.2160T>C (p.Ser720=)	Bardet-Biedl syndrome [RCV001431298]	likely benign	16	56484767	56484767	Human	1	name
127261414	CV1103943	single nucleotide variant	NM_031885.5(BBS2):c.2016C>G (p.Leu672=)	Bardet-Biedl syndrome [RCV001428058]	likely benign	16	56485633	56485633	Human	1	name
127255170	CV1103944	single nucleotide variant	NM_031885.5(BBS2):c.1950T>C (p.Leu650=)	Bardet-Biedl syndrome [RCV001437413]	likely benign	16	56485699	56485699	Human	1	name
127257751	CV1103945	single nucleotide variant	NM_031885.5(BBS2):c.1873C>T (p.Leu625=)	Bardet-Biedl syndrome [RCV001427172]	likely benign	16	56497004	56497004	Human	1	name
127263637	CV1103946	single nucleotide variant	NM_031885.5(BBS2):c.1818G>A (p.Val606=)	Bardet-Biedl syndrome [RCV001439344]	likely benign	16	56497059	56497059	Human	1	name
127275794	CV1103948	single nucleotide variant	NM_031885.5(BBS2):c.1728T>C (p.Ala576=)	BBS2-related disorder [RCV004733317]\|Bardet-Biedl syndrome [RCV001443482]	likely benign	16	56497812	56497812	Human	2	name , alternate_id
127266846	CV1103949	single nucleotide variant	NM_031885.5(BBS2):c.1686T>C (p.Asp562=)	Bardet-Biedl syndrome [RCV001429488]	likely benign	16	56497854	56497854	Human	1	name
127256235	CV1103950	single nucleotide variant	NM_031885.5(BBS2):c.1629C>T (p.His543=)	Bardet-Biedl syndrome [RCV001426774]	likely benign	16	56498467	56498467	Human	1	name
127278062	CV1103951	single nucleotide variant	NM_031885.5(BBS2):c.1530T>G (p.Val510=)	BBS2-related disorder [RCV004733319]\|Bardet-Biedl syndrome 2 [RCV002495624]\|Bardet-Biedl syndrome [RCV001444765]	likely benign	16	56498566	56498566	Human	2	name , alternate_id
127233471	CV1103953	single nucleotide variant	NM_031885.5(BBS2):c.1500C>T (p.Asn500=)	Bardet-Biedl syndrome [RCV001421776]	likely benign	16	56499805	56499805	Human	1	name
127240715	CV1103954	single nucleotide variant	NM_031885.5(BBS2):c.1494T>C (p.Tyr498=)	Bardet-Biedl syndrome [RCV001434277]	likely benign	16	56499811	56499811	Human	1	name
127259854	CV1103955	single nucleotide variant	NM_031885.5(BBS2):c.1437T>G (p.Pro479=)	Bardet-Biedl syndrome [RCV001438428]	likely benign	16	56499868	56499868	Human	1	name
127282432	CV1103956	single nucleotide variant	NM_031885.5(BBS2):c.1326C>T (p.Cys442=)	BBS2-related disorder [RCV004540351]\|Bardet-Biedl syndrome [RCV001447820]	likely benign	16	56500925	56500925	Human	2	name , alternate_id
127261553	CV1103957	single nucleotide variant	NM_031885.5(BBS2):c.1233C>T (p.Ile411=)	BBS2-related disorder [RCV004733303]\|Bardet-Biedl syndrome [RCV001428082]	likely benign	16	56501018	56501018	Human	2	name , alternate_id
127261434	CV1103958	single nucleotide variant	NM_031885.5(BBS2):c.1161C>G (p.Leu387=)	Bardet-Biedl syndrome [RCV001438770]	likely benign	16	56501417	56501417	Human	1	name
127251922	CV1103959	single nucleotide variant	NM_031885.5(BBS2):c.1011G>A (p.Leu337=)	BBS2-related disorder [RCV004733301]\|Bardet-Biedl syndrome [RCV001425726]\|not provided [RCV004706134]	likely benign	16	56502386	56502386	Human	2	name , alternate_id
127307355	CV1125333	single nucleotide variant	NM_031885.5(BBS2):c.2157T>G (p.Ala719=)	Bardet-Biedl syndrome [RCV001455768]	likely benign	16	56484770	56484770	Human	1	name
127292458	CV1125337	single nucleotide variant	NM_031885.5(BBS2):c.2046A>C (p.Ala682=)	Bardet-Biedl syndrome [RCV001451766]	likely benign	16	56485603	56485603	Human	1	name
127317084	CV1125338	single nucleotide variant	NM_031885.5(BBS2):c.1878C>T (p.Val626=)	BBS2-related disorder [RCV004533803]\|Bardet-Biedl syndrome [RCV001465737]	likely benign	16	56496999	56496999	Human	2	name , alternate_id
127290108	CV1125340	single nucleotide variant	NM_031885.5(BBS2):c.1542C>T (p.Leu514=)	Bardet-Biedl syndrome [RCV001458347]	likely benign	16	56498554	56498554	Human	1	name
127291671	CV1125341	single nucleotide variant	NM_031885.5(BBS2):c.1458G>A (p.Leu486=)	BBS2-related disorder [RCV004533783]\|Bardet-Biedl syndrome [RCV001458804]	likely benign	16	56499847	56499847	Human	2	name , alternate_id
127312383	CV1125342	single nucleotide variant	NM_031885.5(BBS2):c.1455G>A (p.Ala485=)	Bardet-Biedl syndrome [RCV001464377]	likely benign	16	56499850	56499850	Human	1	name
127315525	CV1125343	single nucleotide variant	NM_031885.5(BBS2):c.1428A>G (p.Arg476=)	Bardet-Biedl syndrome [RCV001465229]	likely benign	16	56499877	56499877	Human	1	name
127319069	CV1125344	single nucleotide variant	NM_031885.5(BBS2):c.1413A>G (p.Val471=)	Bardet-Biedl syndrome 2 [RCV002495681]\|Bardet-Biedl syndrome [RCV001466443]	likely benign	16	56499892	56499892	Human	2	name
127323841	CV1125345	single nucleotide variant	NM_031885.5(BBS2):c.1083T>A (p.Ala361=)	Bardet-Biedl syndrome [RCV001468012]	likely benign	16	56501495	56501495	Human	1	name
127318287	CV1146243	single nucleotide variant	NM_031885.5(BBS2):c.2128C>T (p.Leu710=)	Bardet-Biedl syndrome [RCV001503632]	likely benign	16	56484799	56484799	Human	1	name
127309113	CV1146244	single nucleotide variant	NM_031885.5(BBS2):c.2028T>C (p.Asn676=)	Bardet-Biedl syndrome [RCV001500956]	likely benign	16	56485621	56485621	Human	1	name
127319015	CV1146245	single nucleotide variant	NM_031885.5(BBS2):c.1989C>T (p.Asn663=)	BBS2-related disorder [RCV004733342]\|Bardet-Biedl syndrome [RCV001483697]	likely benign	16	56485660	56485660	Human	2	name , alternate_id
127317383	CV1146247	single nucleotide variant	NM_031885.5(BBS2):c.1851T>C (p.His617=)	Bardet-Biedl syndrome [RCV001483142]	likely benign	16	56497026	56497026	Human	1	name
127329796	CV1146248	single nucleotide variant	NM_031885.5(BBS2):c.1632G>T (p.Leu544=)	Bardet-Biedl syndrome [RCV001487691]	likely benign	16	56498464	56498464	Human	1	name
127311787	CV1146249	single nucleotide variant	NM_031885.5(BBS2):c.1623C>T (p.Gly541=)	Bardet-Biedl syndrome 2 [RCV002501725]\|Bardet-Biedl syndrome [RCV001501697]\|not provided [RCV004706234]	likely benign	16	56498473	56498473	Human	2	name
127285931	CV1146250	single nucleotide variant	NM_031885.5(BBS2):c.1557G>A (p.Leu519=)	Bardet-Biedl syndrome [RCV001493862]	likely benign	16	56498539	56498539	Human	1	name
127298560	CV1146251	single nucleotide variant	NM_031885.5(BBS2):c.1554T>C (p.Phe518=)	Bardet-Biedl syndrome [RCV001498101]	likely benign	16	56498542	56498542	Human	1	name
127332570	CV1146252	single nucleotide variant	NM_031885.5(BBS2):c.1456C>T (p.Leu486=)	BBS2-related disorder [RCV004533864]\|Bardet-Biedl syndrome [RCV001489563]	likely benign	16	56499849	56499849	Human	2	name , alternate_id
127285824	CV1146253	single nucleotide variant	NM_031885.5(BBS2):c.1410T>C (p.His470=)	Bardet-Biedl syndrome [RCV001493736]	likely benign	16	56499895	56499895	Human	1	name
127296533	CV1146254	single nucleotide variant	NM_031885.5(BBS2):c.1314C>T (p.Ser438=)	Bardet-Biedl syndrome [RCV001497512]	likely benign	16	56500937	56500937	Human	1	name
127316480	CV1146255	single nucleotide variant	NM_031885.5(BBS2):c.1257A>G (p.Ala419=)	Bardet-Biedl syndrome [RCV001503029]\|not provided [RCV005411762]	likely benign	16	56500994	56500994	Human	1	name
127330060	CV1146256	single nucleotide variant	NM_031885.5(BBS2):c.1227C>T (p.Asp409=)	Bardet-Biedl syndrome [RCV001487843]	likely benign	16	56501024	56501024	Human	1	name
127300866	CV1146257	single nucleotide variant	NM_031885.5(BBS2):c.1209C>T (p.Arg403=)	Bardet-Biedl syndrome [RCV001478508]\|not specified [RCV005237848]	likely benign	16	56501369	56501369	Human	1	name
127291168	CV1146258	single nucleotide variant	NM_031885.5(BBS2):c.1158G>A (p.Thr386=)	Bardet-Biedl syndrome [RCV001496157]\|Retinal dystrophy [RCV003888225]	likely benign	16	56501420	56501420	Human	3	name
151879495	CV1383704	single nucleotide variant	NM_031885.5(BBS2):c.143G>A (p.Arg48Gln)	Bardet-Biedl syndrome [RCV001907484]	uncertain significance	16	56514655	56514655	Human	1	name
151878620	CV1416224	single nucleotide variant	NM_031885.5(BBS2):c.227G>C (p.Ser76Thr)	Bardet-Biedl syndrome [RCV001926145]	uncertain significance	16	56514571	56514571	Human	1	name
151808558	CV1423350	single nucleotide variant	NM_031885.5(BBS2):c.113G>A (p.Gly38Asp)	Bardet-Biedl syndrome [RCV002012208]\|Inborn genetic diseases [RCV002563529]	uncertain significance	16	56519750	56519750	Human	2	name
151776537	CV1450595	single nucleotide variant	NM_031885.5(BBS2):c.272C>A (p.Ala91Asp)	Bardet-Biedl syndrome [RCV001915486]	uncertain significance	16	56514526	56514526	Human	1	name
151795745	CV1476242	single nucleotide variant	NM_031885.5(BBS2):c.133C>A (p.Pro45Thr)	Bardet-Biedl syndrome [RCV001931845]	uncertain significance	16	56514665	56514665	Human	1	name
151726983	CV1498938	single nucleotide variant	NM_031885.5(BBS2):c.155T>A (p.Val52Asp)	Bardet-Biedl syndrome [RCV002040809]	uncertain significance	16	56514643	56514643	Human	1	name
151771498	CV1502653	single nucleotide variant	NM_031885.5(BBS2):c.194A>T (p.Asp65Val)	Bardet-Biedl syndrome 2 [RCV004584229]\|Bardet-Biedl syndrome [RCV001896380]	uncertain significance	16	56514604	56514604	Human	2	name
152115704	CV1526273	single nucleotide variant	NM_031885.5(BBS2):c.1776A>G (p.Glu592=)	Bardet-Biedl syndrome [RCV002174897]	likely benign	16	56497764	56497764	Human	1	name
152050109	CV1527717	single nucleotide variant	NM_031885.5(BBS2):c.1524G>A (p.Gln508=)	Bardet-Biedl syndrome [RCV002089045]	likely benign	16	56499781	56499781	Human	1	name
152036403	CV1537072	single nucleotide variant	NM_031885.5(BBS2):c.2139C>T (p.Ile713=)	Bardet-Biedl syndrome [RCV002205656]	likely benign	16	56484788	56484788	Human	1	name
152115000	CV1537462	single nucleotide variant	NM_031885.5(BBS2):c.1164A>G (p.Ser388=)	Bardet-Biedl syndrome [RCV002134983]	likely benign	16	56501414	56501414	Human	1	name
152113022	CV1539397	single nucleotide variant	NM_031885.5(BBS2):c.1845T>C (p.Ala615=)	BBS2-related disorder [RCV004733470]\|Bardet-Biedl syndrome 2 [RCV002498273]\|Bardet-Biedl syndrome [RCV002080510]	likely benign	16	56497032	56497032	Human	2	name , alternate_id
152118287	CV1540330	single nucleotide variant	NM_031885.5(BBS2):c.1099C>T (p.Leu367=)	Bardet-Biedl syndrome [RCV002097797]	likely benign	16	56501479	56501479	Human	1	name
152029049	CV1555626	single nucleotide variant	NM_031885.5(BBS2):c.1179T>C (p.Asn393=)	Bardet-Biedl syndrome [RCV002186036]	likely benign	16	56501399	56501399	Human	1	name
152060514	CV1559209	single nucleotide variant	NM_031885.5(BBS2):c.1008C>T (p.Asp336=)	Bardet-Biedl syndrome [RCV002167945]	likely benign	16	56502389	56502389	Human	1	name
152157543	CV1573238	single nucleotide variant	NM_031885.5(BBS2):c.2091T>G (p.Ala697=)	BBS2-related disorder [RCV004733462]\|Bardet-Biedl syndrome [RCV002180341]	likely benign	16	56484836	56484836	Human	2	name , alternate_id
152080066	CV1579965	single nucleotide variant	NM_031885.5(BBS2):c.1662C>T (p.Ile554=)	Bardet-Biedl syndrome [RCV002076250]	likely benign	16	56497878	56497878	Human	1	name
152122721	CV1587125	single nucleotide variant	NM_031885.5(BBS2):c.1221T>C (p.Ser407=)	Bardet-Biedl syndrome [RCV002135916]	likely benign	16	56501357	56501357	Human	1	name
152166621	CV1597084	single nucleotide variant	NM_031885.5(BBS2):c.1323C>T (p.Ile441=)	BBS2-related disorder [RCV004733499]\|Bardet-Biedl syndrome [RCV002204485]	likely benign	16	56500928	56500928	Human	2	name , alternate_id
152096164	CV1597450	single nucleotide variant	NM_031885.5(BBS2):c.1065T>C (p.Tyr355=)	Bardet-Biedl syndrome [RCV002114727]	likely benign	16	56502332	56502332	Human	1	name
152106606	CV1605167	single nucleotide variant	NM_031885.5(BBS2):c.2002C>T (p.Leu668=)	Bardet-Biedl syndrome [RCV002196231]	likely benign	16	56485647	56485647	Human	1	name
152052168	CV1617354	single nucleotide variant	NM_031885.5(BBS2):c.1716A>G (p.Ala572=)	Bardet-Biedl syndrome [RCV002072515]	likely benign	16	56497824	56497824	Human	1	name
152061230	CV1618437	single nucleotide variant	NM_031885.5(BBS2):c.1653T>C (p.Ser551=)	Bardet-Biedl syndrome [RCV002090277]	likely benign	16	56498443	56498443	Human	1	name
152034451	CV1621579	single nucleotide variant	NM_031885.5(BBS2):c.1215C>A (p.Ser405=)	Bardet-Biedl syndrome [RCV002205349]	likely benign	16	56501363	56501363	Human	1	name
152025971	CV1627757	single nucleotide variant	NM_031885.5(BBS2):c.1020G>A (p.Glu340=)	Bardet-Biedl syndrome [RCV002104394]	likely benign	16	56502377	56502377	Human	1	name
152096123	CV1631261	single nucleotide variant	NM_031885.5(BBS2):c.1440A>C (p.Arg480=)	Bardet-Biedl syndrome [RCV002172474]	likely benign	16	56499865	56499865	Human	1	name
152087879	CV1638802	single nucleotide variant	NM_031885.5(BBS2):c.1443C>T (p.Phe481=)	Bardet-Biedl syndrome [RCV002150191]	likely benign	16	56499862	56499862	Human	1	name
152172803	CV1641740	single nucleotide variant	NM_031885.5(BBS2):c.1329C>T (p.Ile443=)	Bardet-Biedl syndrome [RCV002183965]	likely benign	16	56500922	56500922	Human	1	name
152115609	CV1653590	single nucleotide variant	NM_031885.5(BBS2):c.1974T>C (p.Tyr658=)	Bardet-Biedl syndrome [RCV002153615]	likely benign	16	56485675	56485675	Human	1	name
152049448	CV1656212	single nucleotide variant	NM_031885.5(BBS2):c.1092C>A (p.Ala364=)	Bardet-Biedl syndrome [RCV002207331]	likely benign	16	56501486	56501486	Human	1	name
152095850	CV1661795	single nucleotide variant	NM_031885.5(BBS2):c.1791A>C (p.Leu597=)	Bardet-Biedl syndrome [RCV002172438]	likely benign	16	56497749	56497749	Human	1	name
153000439	CV1683046	single nucleotide variant	NM_031885.5(BBS2):c.287C>A (p.Thr96Lys)	See cases [RCV002253056]	uncertain significance	16	56514511	56514511	Human		name
9688587	CV177511	single nucleotide variant	NM_031885.5(BBS2):c.1110T>C (p.Ala370=)	Bardet-Biedl syndrome 2 [RCV002492570]\|Bardet-Biedl syndrome [RCV001086074]\|not provided [RCV000589907]\|not specified [RCV000152836]	benign\|likely benign	16	56501468	56501468	Human	2	name
155736774	CV1783987	duplication	NM_031885.5(BBS2):c.784dup (p.Thr262fs)	Bardet-Biedl syndrome 2 [RCV002310144]	likely pathogenic	16	56505969	56505970	Human	1	name
156381486	CV1868374	single nucleotide variant	NM_031885.5(BBS2):c.1353C>T (p.Val451=)	Bardet-Biedl syndrome [RCV003050523]	likely benign	16	56500898	56500898	Human	1	name
156403598	CV1871805	single nucleotide variant	NM_031885.5(BBS2):c.2055G>A (p.Leu685=)	Bardet-Biedl syndrome [RCV003052636]	likely benign	16	56485594	56485594	Human	1	name
156257948	CV1875504	single nucleotide variant	NM_031885.5(BBS2):c.1569C>T (p.Asp523=)	Bardet-Biedl syndrome [RCV003060256]	likely benign	16	56498527	56498527	Human	1	name
156241296	CV1882478	single nucleotide variant	NM_031885.5(BBS2):c.1719A>G (p.Ser573=)	Bardet-Biedl syndrome [RCV003085754]	likely benign	16	56497821	56497821	Human	1	name
156323018	CV1882606	single nucleotide variant	NM_031885.5(BBS2):c.217C>G (p.Gln73Glu)	Bardet-Biedl syndrome [RCV003089296]	likely benign	16	56514581	56514581	Human	1	name
156385320	CV1883775	single nucleotide variant	NM_031885.5(BBS2):c.2005T>C (p.Leu669=)	BBS2-related disorder [RCV004733576]\|Bardet-Biedl syndrome [RCV003093628]	likely benign	16	56485644	56485644	Human	2	name , alternate_id
156253533	CV1884054	single nucleotide variant	NM_031885.5(BBS2):c.1431G>A (p.Gln477=)	Bardet-Biedl syndrome [RCV003086190]	likely benign	16	56499874	56499874	Human	1	name
156338472	CV1902434	single nucleotide variant	NM_031885.5(BBS2):c.2067A>G (p.Lys689=)	Bardet-Biedl syndrome [RCV003090213]	likely benign	16	56484860	56484860	Human	1	name
156264126	CV1910094	single nucleotide variant	NM_031885.5(BBS2):c.265T>C (p.Tyr89His)	Bardet-Biedl syndrome [RCV002627866]	uncertain significance	16	56514533	56514533	Human	1	name
10047799	CV191287	single nucleotide variant	NM_031885.5(BBS2):c.1422G>A (p.Ser474=)	Bardet-Biedl syndrome 1 [RCV000709677]\|Bardet-Biedl syndrome 2 [RCV001094291]\|Bardet-Biedl syndrome [RCV000279525]\|not provided [RCV003884375]\|not specified [RCV000174411]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	56499883	56499883	Human	3	name
156163925	CV1929878	single nucleotide variant	NM_031885.5(BBS2):c.1752G>A (p.Ala584=)	BBS2-related disorder [RCV004538843]\|Bardet-Biedl syndrome [RCV002624479]	likely benign	16	56497788	56497788	Human	2	name , alternate_id
156222636	CV1960328	single nucleotide variant	NM_031885.5(BBS2):c.1506C>A (p.Thr502=)	BBS2-related disorder [RCV004725306]\|Bardet-Biedl syndrome [RCV002575586]	likely benign	16	56499799	56499799	Human	2	name , alternate_id
8558155	CV19607	deletion	NM_031885.5(BBS2):c.940del (p.Ile314fs)	Bardet-Biedl syndrome 2 [RCV000004830]	pathogenic	16	56502673	56502673	Human	1	name
8596483	CV19608	single nucleotide variant	NM_031885.5(BBS2):c.224T>G (p.Val75Gly)	Bardet-Biedl syndrome 2 [RCV000004831]\|Bardet-Biedl syndrome 2 [RCV005411280]\|Bardet-Biedl syndrome [RCV001002877]	pathogenic\|likely pathogenic	16	56514574	56514574	Human	2	name
8596485	CV19610	single nucleotide variant	NM_031885.5(BBS2):c.175C>T (p.Gln59Ter)	Bardet-Biedl syndrome 2 [RCV000004833]\|Bardet-Biedl syndrome 2 [RCV002490314]\|Bardet-Biedl syndrome [RCV000587533]\|not provided [RCV003441704]	pathogenic\|likely pathogenic	16	56514623	56514623	Human	2	name
156191057	CV1974414	single nucleotide variant	NM_031885.5(BBS2):c.1590A>G (p.Pro530=)	Bardet-Biedl syndrome [RCV002625421]	likely benign	16	56498506	56498506	Human	1	name
155993384	CV1990621	single nucleotide variant	NM_031885.5(BBS2):c.1836T>C (p.Ala612=)	Bardet-Biedl syndrome [RCV002618119]	likely benign	16	56497041	56497041	Human	1	name
156404876	CV1997534	single nucleotide variant	NM_031885.5(BBS2):c.1542C>G (p.Leu514=)	Bardet-Biedl syndrome [RCV002658163]	likely benign	16	56498554	56498554	Human	1	name
156208179	CV2000766	single nucleotide variant	NM_031885.5(BBS2):c.1512A>G (p.Ala504=)	Bardet-Biedl syndrome [RCV002666744]	likely benign	16	56499793	56499793	Human	1	name
156092266	CV2016457	single nucleotide variant	NM_031885.5(BBS2):c.1599G>A (p.Val533=)	Bardet-Biedl syndrome [RCV002706356]	likely benign	16	56498497	56498497	Human	1	name
156060105	CV2034486	single nucleotide variant	NM_031885.5(BBS2):c.1446C>T (p.Ser482=)	Bardet-Biedl syndrome [RCV002736809]	likely benign	16	56499859	56499859	Human	1	name
155935031	CV2035352	single nucleotide variant	NM_031885.5(BBS2):c.268G>A (p.Asp90Asn)	Bardet-Biedl syndrome [RCV002751390]	uncertain significance	16	56514530	56514530	Human	1	name
156142907	CV2044569	single nucleotide variant	NM_031885.5(BBS2):c.1671T>C (p.Asn557=)	Bardet-Biedl syndrome [RCV002801018]	likely benign	16	56497869	56497869	Human	1	name
156097892	CV2050963	single nucleotide variant	NM_031885.5(BBS2):c.1197T>C (p.His399=)	Bardet-Biedl syndrome [RCV002824445]	likely benign	16	56501381	56501381	Human	1	name
156102579	CV2051182	single nucleotide variant	NM_031885.5(BBS2):c.1791A>T (p.Leu597=)	Bardet-Biedl syndrome [RCV002824611]	uncertain significance	16	56497749	56497749	Human	1	name
10401393	CV205180	deletion	NM_031885.5(BBS2):c.661del (p.Leu221fs)	Bardet-Biedl syndrome 2 [RCV000190568]\|Bardet-Biedl syndrome 2 [RCV005016549]\|Bardet-Biedl syndrome [RCV001248493]\|Inborn genetic diseases [RCV002517028]\|Retinitis pigmentosa [RCV000787790]\|not provided [RCV001268712]	pathogenic\|likely pathogenic	16	56506176	56506176	Human	5	name
156121444	CV2052329	single nucleotide variant	NM_031885.5(BBS2):c.1626C>T (p.Gly542=)	Bardet-Biedl syndrome [RCV002825314]	likely benign	16	56498470	56498470	Human	1	name
156090357	CV2056957	single nucleotide variant	NM_031885.5(BBS2):c.1452T>C (p.Tyr484=)	Bardet-Biedl syndrome [RCV002824160]	likely benign	16	56499853	56499853	Human	1	name
155982005	CV2070164	single nucleotide variant	NM_031885.5(BBS2):c.2064A>G (p.Gly688=)	Bardet-Biedl syndrome [RCV002842566]	likely benign	16	56484863	56484863	Human	1	name
156295905	CV2073486	single nucleotide variant	NM_031885.5(BBS2):c.1695T>A (p.Gly565=)	Bardet-Biedl syndrome [RCV002833399]	likely benign	16	56497845	56497845	Human	1	name
155968607	CV2077059	single nucleotide variant	NM_031885.5(BBS2):c.1230C>T (p.Thr410=)	Bardet-Biedl syndrome [RCV002863202]	likely benign	16	56501021	56501021	Human	1	name
156221726	CV2078582	single nucleotide variant	NM_031885.5(BBS2):c.1260A>G (p.Glu420=)	Bardet-Biedl syndrome [RCV002894211]	likely benign	16	56500991	56500991	Human	1	name
156143290	CV2082421	single nucleotide variant	NM_031885.5(BBS2):c.1674T>C (p.Thr558=)	Bardet-Biedl syndrome [RCV002872060]	likely benign	16	56497866	56497866	Human	1	name
156232101	CV2085350	deletion	NM_031885.5(BBS2):c.362del (p.Asn121fs)	Bardet-Biedl syndrome [RCV002876276]	pathogenic	16	56511268	56511268	Human	1	name
155983014	CV2088954	deletion	NM_031885.5(BBS2):c.812del (p.Ala271fs)	Bardet-Biedl syndrome [RCV002863859]	pathogenic	16	56502801	56502801	Human	1	name
156059130	CV2090004	single nucleotide variant	NM_031885.5(BBS2):c.1746A>G (p.Val582=)	Bardet-Biedl syndrome [RCV002868050]	likely benign	16	56497794	56497794	Human	1	name
156330633	CV2112616	single nucleotide variant	NM_031885.5(BBS2):c.1899G>C (p.Leu633=)	Bardet-Biedl syndrome [RCV002938346]	likely benign	16	56496978	56496978	Human	1	name
156130049	CV2114788	single nucleotide variant	NM_031885.5(BBS2):c.259C>T (p.Leu87Phe)	BBS2-related disorder [RCV004733545]\|Bardet-Biedl syndrome [RCV002914517]	uncertain significance	16	56514539	56514539	Human	2	name , alternate_id
155942460	CV2115030	single nucleotide variant	NM_031885.5(BBS2):c.1467G>A (p.Leu489=)	Bardet-Biedl syndrome [RCV002904565]	likely benign	16	56499838	56499838	Human	1	name
155910820	CV2153151	single nucleotide variant	NM_031885.5(BBS2):c.1998A>G (p.Thr666=)	Bardet-Biedl syndrome [RCV003012237]	likely benign	16	56485651	56485651	Human	1	name
155966028	CV2156024	single nucleotide variant	NM_031885.5(BBS2):c.1857T>C (p.Asn619=)	Bardet-Biedl syndrome [RCV003015703]	likely benign	16	56497020	56497020	Human	1	name
156180318	CV2182283	single nucleotide variant	NM_031885.5(BBS2):c.1419A>G (p.Glu473=)	Bardet-Biedl syndrome [RCV003057505]	likely benign	16	56499886	56499886	Human	1	name
11642650	CV265782	single nucleotide variant	NM_031885.5(BBS2):c.279A>T (p.Leu93Phe)	not provided [RCV000379296]	uncertain significance	16	56514519	56514519	Human		name
11639686	CV268119	single nucleotide variant	NM_031885.5(BBS2):c.1380C>T (p.Phe460=)	Bardet-Biedl syndrome 2 [RCV001116873]\|Bardet-Biedl syndrome [RCV001081449]\|not provided [RCV000325399]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	56500871	56500871	Human	2	name
11638352	CV269498	single nucleotide variant	NM_031885.5(BBS2):c.209G>A (p.Ser70Asn)	Bardet-Biedl syndrome 2 [RCV000989606]\|Bardet-Biedl syndrome [RCV001081362]\|Retinal dystrophy [RCV003888677]\|Retinitis pigmentosa 74 [RCV001553955]\|not provided [RCV000710724]\|not specified [RCV000301991]	benign	16	56514589	56514589	Human	5	name
11633028	CV269500	single nucleotide variant	NM_031885.5(BBS2):c.118G>T (p.Val40Phe)	Bardet-Biedl syndrome 2 [RCV000305383]\|Bardet-Biedl syndrome [RCV002519177]\|Retinal dystrophy [RCV001075302]\|Retinitis pigmentosa 74 [RCV002250616]\|not provided [RCV000725618]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	16	56514680	56514680	Human	5	name
11636093	CV269844	single nucleotide variant	NM_031885.5(BBS2):c.1953T>C (p.Asn651=)	Bardet-Biedl syndrome 2 [RCV001833351]\|Bardet-Biedl syndrome [RCV001239950]\|not provided [RCV000261769]	likely benign\|uncertain significance	16	56485696	56485696	Human	2	name
401875039	CV2791033	single nucleotide variant	NM_031885.5(BBS2):c.112G>C (p.Gly38Arg)	Inborn genetic diseases [RCV003362525]	uncertain significance	16	56519751	56519751	Human	1	name
401934486	CV2807961	single nucleotide variant	NM_031885.5(BBS2):c.145A>G (p.Asn49Asp)	not provided [RCV003411355]	uncertain significance	16	56514653	56514653	Human		name
401946519	CV2833744	duplication	NM_031885.5(BBS2):c.406dup (p.Ala136fs)	Bardet-Biedl syndrome 2 [RCV003465054]\|Bardet-Biedl syndrome 2 [RCV005021986]	likely pathogenic	16	56511223	56511224	Human	1	name
401946362	CV2833747	duplication	NM_031885.5(BBS2):c.559dup (p.Asp187fs)	Bardet-Biedl syndrome 2 [RCV003465057]	likely pathogenic	16	56510009	56510010	Human	1	name
401946537	CV2833757	single nucleotide variant	NM_031885.5(BBS2):c.278T>A (p.Leu93Ter)	Bardet-Biedl syndrome 2 [RCV003465067]	likely pathogenic	16	56514520	56514520	Human	1	name
405063549	CV2854283	single nucleotide variant	NM_031885.5(BBS2):c.1485A>T (p.Pro495=)	Bardet-Biedl syndrome [RCV003523303]	likely benign	16	56499820	56499820	Human	1	name
405076504	CV2870775	single nucleotide variant	NM_031885.5(BBS2):c.1369T>C (p.Leu457=)	Bardet-Biedl syndrome [RCV003524194]	likely benign	16	56500882	56500882	Human	1	name
405076039	CV2877641	deletion	NM_031885.5(BBS2):c.528del (p.Glu178fs)	Bardet-Biedl syndrome [RCV003524164]	pathogenic	16	56510865	56510865	Human	1	name
405052477	CV2880564	single nucleotide variant	NM_031885.5(BBS2):c.1038G>A (p.Gln346=)	Bardet-Biedl syndrome [RCV003522264]	likely benign	16	56502359	56502359	Human	1	name
405052500	CV2880577	deletion	NM_031885.5(BBS2):c.466del (p.Trp156fs)	Bardet-Biedl syndrome [RCV003522266]	pathogenic	16	56511164	56511164	Human	1	name
404992973	CV2894385	single nucleotide variant	NM_031885.5(BBS2):c.1389C>T (p.Tyr463=)	BBS2-related disorder [RCV004723373]\|Bardet-Biedl syndrome [RCV003525282]	likely benign\|uncertain significance	16	56500862	56500862	Human	2	name , alternate_id
404993343	CV2901650	deletion	NM_031885.5(BBS2):c.307del (p.Tyr103fs)	Bardet-Biedl syndrome [RCV003525325]	pathogenic	16	56514491	56514491	Human	1	name
405079932	CV2919914	single nucleotide variant	NM_031885.5(BBS2):c.1794T>A (p.Val598=)	Bardet-Biedl syndrome [RCV003524486]	likely benign	16	56497746	56497746	Human	1	name
405080012	CV2920114	single nucleotide variant	NM_031885.5(BBS2):c.1950T>A (p.Leu650=)	Bardet-Biedl syndrome [RCV003524493]	likely benign	16	56485699	56485699	Human	1	name
404986393	CV2920582	single nucleotide variant	NM_031885.5(BBS2):c.1368C>T (p.His456=)	Bardet-Biedl syndrome [RCV003524560]	likely benign	16	56500883	56500883	Human	1	name
404988667	CV2928169	single nucleotide variant	NM_031885.5(BBS2):c.1146G>A (p.Arg382=)	Bardet-Biedl syndrome [RCV003524814]	likely benign	16	56501432	56501432	Human	1	name
405057366	CV2929189	single nucleotide variant	NM_031885.5(BBS2):c.1416T>C (p.Phe472=)	Bardet-Biedl syndrome [RCV003522678]	likely benign	16	56499889	56499889	Human	1	name
405060229	CV2930353	deletion	NM_031885.5(BBS2):c.973del (p.Arg325fs)	Bardet-Biedl syndrome [RCV003522905]	pathogenic	16	56502424	56502424	Human	1	name
405085930	CV2954775	single nucleotide variant	NM_031885.5(BBS2):c.1422G>C (p.Ser474=)	Bardet-Biedl syndrome [RCV003634436]	likely benign	16	56499883	56499883	Human	1	name
405086765	CV2959851	single nucleotide variant	NM_031885.5(BBS2):c.1839T>C (p.Asp613=)	Bardet-Biedl syndrome [RCV003634503]	likely benign	16	56497038	56497038	Human	1	name
405086101	CV2961807	single nucleotide variant	NM_031885.5(BBS2):c.1521A>G (p.Ala507=)	Bardet-Biedl syndrome [RCV003634450]	likely benign	16	56499784	56499784	Human	1	name
405088206	CV2968423	single nucleotide variant	NM_031885.5(BBS2):c.1482G>A (p.Glu494=)	Bardet-Biedl syndrome [RCV003634599]	likely benign	16	56499823	56499823	Human	1	name
405087297	CV2970688	single nucleotide variant	NM_031885.5(BBS2):c.1171C>T (p.Leu391=)	BBS2-related disorder [RCV004733627]\|Bardet-Biedl syndrome [RCV003634547]	likely benign	16	56501407	56501407	Human	2	name , alternate_id
405090815	CV2988595	single nucleotide variant	NM_031885.5(BBS2):c.1650T>C (p.Leu550=)	Bardet-Biedl syndrome [RCV003634812]	likely benign	16	56498446	56498446	Human	1	name
405096008	CV3009448	single nucleotide variant	NM_031885.5(BBS2):c.1878C>G (p.Val626=)	Bardet-Biedl syndrome [RCV003635259]	likely benign	16	56496999	56496999	Human	1	name
405136427	CV3017856	single nucleotide variant	NM_031885.5(BBS2):c.1242A>G (p.Ala414=)	Bardet-Biedl syndrome [RCV003635391]	likely benign	16	56501009	56501009	Human	1	name
405068943	CV3025034	single nucleotide variant	NM_031885.5(BBS2):c.1731T>C (p.Ile577=)	Bardet-Biedl syndrome [RCV003632984]	likely benign	16	56497809	56497809	Human	1	name
405071941	CV3025244	single nucleotide variant	NM_031885.5(BBS2):c.1812T>C (p.His604=)	Bardet-Biedl syndrome [RCV003632987]	likely benign	16	56497065	56497065	Human	1	name
405069629	CV3029174	single nucleotide variant	NM_031885.5(BBS2):c.1800G>T (p.Val600=)	Bardet-Biedl syndrome [RCV003633034]	likely benign	16	56497077	56497077	Human	1	name
405072657	CV3033542	single nucleotide variant	NM_031885.5(BBS2):c.2151G>A (p.Gly717=)	Bardet-Biedl syndrome [RCV003633248]	likely benign	16	56484776	56484776	Human	1	name
405081814	CV3068540	single nucleotide variant	NM_031885.5(BBS2):c.2019A>G (p.Lys673=)	Bardet-Biedl syndrome [RCV003634081]	likely benign	16	56485630	56485630	Human	1	name
405084413	CV3071522	single nucleotide variant	NM_031885.5(BBS2):c.2106T>A (p.Ile702=)	BBS2-related disorder [RCV004733632]\|Bardet-Biedl syndrome [RCV003634304]	likely benign	16	56484821	56484821	Human	2	name , alternate_id
405084424	CV3071524	single nucleotide variant	NM_031885.5(BBS2):c.2121C>T (p.Ile707=)	Bardet-Biedl syndrome [RCV003634305]	likely benign	16	56484806	56484806	Human	1	name
405083802	CV3073469	single nucleotide variant	NM_031885.5(BBS2):c.2025A>G (p.Val675=)	Bardet-Biedl syndrome [RCV003634228]	likely benign	16	56485624	56485624	Human	1	name
405173355	CV3151882	single nucleotide variant	NM_031885.5(BBS2):c.2130G>A (p.Leu710=)	Bardet-Biedl syndrome [RCV003858033]	likely benign	16	56484797	56484797	Human	1	name
405145141	CV3155849	single nucleotide variant	NM_031885.5(BBS2):c.1042C>T (p.Leu348=)	Bardet-Biedl syndrome [RCV003855891]	likely benign	16	56502355	56502355	Human	1	name
405081672	CV3156781	single nucleotide variant	NM_031885.5(BBS2):c.2049T>A (p.Gly683=)	Bardet-Biedl syndrome [RCV003851643]	likely benign	16	56485600	56485600	Human	1	name
405161349	CV3159936	duplication	NM_031885.5(BBS2):c.685dup (p.Tyr229fs)	Bardet-Biedl syndrome [RCV003857007]	pathogenic	16	56506151	56506152	Human	1	name
405236997	CV3169068	single nucleotide variant	NM_031885.5(BBS2):c.1515A>G (p.Glu505=)	Bardet-Biedl syndrome [RCV003866347]	likely benign	16	56499790	56499790	Human	1	name
402473871	CV3172289	single nucleotide variant	NM_031885.5(BBS2):c.1014C>T (p.Ile338=)	Bardet-Biedl syndrome [RCV003874892]	likely benign	16	56502383	56502383	Human	1	name
405253048	CV3178083	single nucleotide variant	NM_031885.5(BBS2):c.1758T>C (p.Phe586=)	Bardet-Biedl syndrome [RCV003870863]	likely benign	16	56497782	56497782	Human	1	name
404981209	CV3183481	insertion	NM_031885.5(BBS2):c.2059+19_2059+20insT	Bardet-Biedl syndrome [RCV003880504]	likely benign	16	56485570	56485571	Human	1	name
405263233	CV3188661	single nucleotide variant	NM_031885.5(BBS2):c.2166G>A (p.Ter722=)	Retinal dystrophy [RCV003889725]	uncertain significance	16	56484761	56484761	Human	2	name
11647217	CV325829	single nucleotide variant	NM_031885.5(BBS2):c.2088T>C (p.Thr696=)	BBS2-related disorder [RCV004732845]\|Bardet-Biedl syndrome 2 [RCV000275380]\|Bardet-Biedl syndrome [RCV001476802]	likely benign\|uncertain significance	16	56484839	56484839	Human	2	name , alternate_id
405873650	CV3398696	deletion	NM_031885.5(BBS2):c.856del (p.Ser286fs)	Bardet-Biedl syndrome 2 [RCV004576176]\|Bardet-Biedl syndrome 2 [RCV005015187]	likely pathogenic	16	56502757	56502757	Human	1	name
596941531	CV3408231	single nucleotide variant	NM_031885.5(BBS2):c.202C>T (p.Leu68Phe)	Retinal dystrophy [RCV004815902]	uncertain significance	16	56514596	56514596	Human	2	name
596945965	CV3409152	single nucleotide variant	NM_031885.5(BBS2):c.242G>T (p.Gly81Val)	Retinal dystrophy [RCV004818786]	uncertain significance	16	56514556	56514556	Human	2	name
11618398	CV341906	single nucleotide variant	NM_031885.5(BBS2):c.1134A>G (p.Pro378=)	Bardet-Biedl syndrome 2 [RCV001094335]\|Bardet-Biedl syndrome [RCV000313698]\|not provided [RCV001729531]\|not specified [RCV001700057]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	56501444	56501444	Human	2	name
11619897	CV343426	single nucleotide variant	NM_031885.5(BBS2):c.2079G>A (p.Gln693=)	Bardet-Biedl syndrome 2 [RCV001094387]\|Bardet-Biedl syndrome [RCV000330583]\|Retinal dystrophy [RCV003888746]\|not specified [RCV001795940]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	56484848	56484848	Human	4	name
11625143	CV343438	single nucleotide variant	NM_031885.5(BBS2):c.1104C>T (p.Asn368=)	BBS2-related disorder [RCV004732846]\|Bardet-Biedl syndrome 2 [RCV001094336]\|Bardet-Biedl syndrome [RCV000395324]\|not provided [RCV004597779]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	56501474	56501474	Human	2	name , alternate_id
407574269	CV3498538	single nucleotide variant	NM_031885.5(BBS2):c.115A>C (p.Lys39Gln)	not specified [RCV004703014]	uncertain significance	16	56519748	56519748	Human		name
408367912	CV3507869	single nucleotide variant	NM_031885.5(BBS2):c.140C>T (p.Thr47Ile)	BBS2-related disorder [RCV004733699]	uncertain significance	16	56514658	56514658	Human	1	name , trait , alternate_id
408368065	CV3514429	single nucleotide variant	NM_031885.5(BBS2):c.244G>A (p.Val82Ile)	BBS2-related disorder [RCV004733872]	uncertain significance	16	56514554	56514554	Human	1	name , trait , alternate_id
408368116	CV3515841	single nucleotide variant	NM_031885.5(BBS2):c.1698T>C (p.Asp566=)	BBS2-related disorder [RCV004733922]	likely benign	16	56497842	56497842	Human	1	name , trait , alternate_id
408368117	CV3515857	single nucleotide variant	NM_031885.5(BBS2):c.2103A>G (p.Ala701=)	BBS2-related disorder [RCV004733923]	likely benign	16	56484824	56484824	Human	1	name , trait , alternate_id
597750340	CV3705089	single nucleotide variant	NM_031885.5(BBS2):c.224T>C (p.Val75Ala)	Bardet-Biedl syndrome 2 [RCV005015651]	uncertain significance	16	56514574	56514574	Human	1	name
597922813	CV3738546	single nucleotide variant	NM_031885.5(BBS2):c.1353C>A (p.Val451=)	Bardet-Biedl syndrome [RCV005074954]	likely benign	16	56500898	56500898	Human	1	name
597877687	CV3776156	single nucleotide variant	NM_031885.5(BBS2):c.1701C>A (p.Ile567=)	Bardet-Biedl syndrome [RCV005123684]	likely benign	16	56497839	56497839	Human	1	name
597943977	CV3776263	single nucleotide variant	NM_031885.5(BBS2):c.1590A>T (p.Pro530=)	Bardet-Biedl syndrome [RCV005119327]	likely benign	16	56498506	56498506	Human	1	name
13216207	CV429816	single nucleotide variant	NM_031885.5(BBS2):c.132T>A (p.Asn44Lys)	not specified [RCV000503385]	uncertain significance	16	56514666	56514666	Human		name
13482275	CV466508	single nucleotide variant	NM_031885.5(BBS2):c.109A>G (p.Thr37Ala)	Bardet-Biedl syndrome [RCV000529326]	uncertain significance	16	56519754	56519754	Human	1	name
13606536	CV530058	single nucleotide variant	NM_031885.5(BBS2):c.1152C>T (p.His384=)	BBS2-related disorder [RCV004544844]\|Bardet-Biedl syndrome [RCV000638380]	likely benign	16	56501426	56501426	Human	2	name , alternate_id
13791718	CV547764	deletion	NM_031885.5(BBS2):c.563del (p.Ile188fs)	BBS2-related disorder [RCV005223106]\|Bardet-Biedl syndrome 2 [RCV000667813]\|Bardet-Biedl syndrome 2 [RCV002477490]\|Bardet-Biedl syndrome [RCV001224369]\|Retinal dystrophy [RCV004817881]	pathogenic\|likely pathogenic	16	56510006	56510006	Human	4	name , alternate_id
13787158	CV548065	single nucleotide variant	NM_031885.5(BBS2):c.241G>T (p.Gly81Cys)	Bardet-Biedl syndrome 2 [RCV000673306]\|Bardet-Biedl syndrome 2 [RCV005019156]\|Bardet-Biedl syndrome [RCV001377155]\|Retinal dystrophy [RCV001075001]\|not provided [RCV001092931]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	16	56514557	56514557	Human	4	name
13820471	CV568198	single nucleotide variant	NM_031885.5(BBS2):c.235A>C (p.Thr79Pro)	Bardet-Biedl syndrome 2 [RCV001830524]\|Bardet-Biedl syndrome [RCV000694867]	uncertain significance	16	56514563	56514563	Human	2	name
13806905	CV574093	indel	NM_031885.5(BBS2):c.471+3_471+4delinsCA	Bardet-Biedl syndrome [RCV000686423]	uncertain significance	16	56511155	56511156	Human		name
14690955	CV621543	deletion	NM_031885.5(BBS2):c.402del (p.Ala136fs)	Bardet-Biedl syndrome 2 [RCV002501018]\|Bardet-Biedl syndrome [RCV000780957]	pathogenic\|likely pathogenic	16	56511228	56511228	Human	2	name
15160868	CV688622	single nucleotide variant	NM_031885.5(BBS2):c.1806A>G (p.Glu602=)	Bardet-Biedl syndrome [RCV001478086]	likely benign	16	56497071	56497071	Human	1	name
15138183	CV688623	single nucleotide variant	NM_031885.5(BBS2):c.1437T>C (p.Pro479=)	BBS2-related disorder [RCV004733069]\|Bardet-Biedl syndrome 2 [RCV001273909]\|Bardet-Biedl syndrome [RCV000864792]	likely benign\|uncertain significance	16	56499868	56499868	Human	2	name , alternate_id
15153913	CV688626	single nucleotide variant	NM_031885.5(BBS2):c.126T>G (p.Ile42Met)	BBS2-related disorder [RCV004538260]\|Bardet-Biedl syndrome 2 [RCV001121842]\|Bardet-Biedl syndrome [RCV000867744]	benign\|likely benign\|uncertain significance	16	56514672	56514672	Human	2	name , alternate_id
15106023	CV693899	single nucleotide variant	NM_031885.5(BBS2):c.1608A>G (p.Thr536=)	BBS2-related disorder [RCV004538299]\|Bardet-Biedl syndrome [RCV000871216]	likely benign	16	56498488	56498488	Human	2	name , alternate_id
15109129	CV693900	single nucleotide variant	NM_031885.5(BBS2):c.1470C>T (p.Asp490=)	Bardet-Biedl syndrome 2 [RCV005021270]\|Bardet-Biedl syndrome [RCV001469670]	likely benign\|uncertain significance	16	56499835	56499835	Human	2	name
28883043	CV693901	single nucleotide variant	NM_031885.5(BBS2):c.1284C>T (p.His428=)	BBS2-related disorder [RCV004538345]\|Bardet-Biedl syndrome 2 [RCV001118323]\|Bardet-Biedl syndrome [RCV001426474]	likely benign\|uncertain significance	16	56500967	56500967	Human	2	name , alternate_id
15125673	CV693902	single nucleotide variant	NM_031885.5(BBS2):c.1215C>T (p.Ser405=)	Bardet-Biedl syndrome [RCV001424217]	likely benign	16	56501363	56501363	Human	1	name
15122307	CV693904	single nucleotide variant	NM_031885.5(BBS2):c.266A>G (p.Tyr89Cys)	BBS2-related disorder [RCV004541729]\|Bardet-Biedl syndrome 2 [RCV001121839]\|Bardet-Biedl syndrome [RCV000874389]\|not specified [RCV001844244]	benign\|likely benign\|uncertain significance	16	56514532	56514532	Human	2	name , alternate_id
15174528	CV770964	single nucleotide variant	NM_031885.5(BBS2):c.1777T>C (p.Leu593=)	Bardet-Biedl syndrome [RCV001391866]	likely benign	16	56497763	56497763	Human	1	name
15136176	CV785309	single nucleotide variant	NM_031885.5(BBS2):c.1890T>C (p.Asp630=)	Bardet-Biedl syndrome 2 [RCV001273906]\|Bardet-Biedl syndrome [RCV002549579]	likely benign\|uncertain significance	16	56496987	56496987	Human	2	name
15125642	CV785310	single nucleotide variant	NM_031885.5(BBS2):c.1161C>T (p.Leu387=)	Bardet-Biedl syndrome [RCV001457433]	likely benign	16	56501417	56501417	Human	1	name
26920268	CV844017	deletion	NM_031885.5(BBS2):c.774del (p.Asn258fs)	Bardet-Biedl syndrome 2 [RCV002497438]\|Bardet-Biedl syndrome [RCV001059813]	pathogenic\|likely pathogenic	16	56505980	56505980	Human	2	name
26921245	CV844020	single nucleotide variant	NM_031885.5(BBS2):c.184C>G (p.Leu62Val)	BBS2-related disorder [RCV004545036]\|Bardet-Biedl syndrome 2 [RCV001832544]\|Bardet-Biedl syndrome [RCV001060812]\|Inborn genetic diseases [RCV002554435]\|not specified [RCV004768836]	uncertain significance	16	56514614	56514614	Human	3	name , alternate_id
26919325	CV844021	single nucleotide variant	NM_031885.5(BBS2):c.159T>G (p.Ser53Arg)	Bardet-Biedl syndrome 2 [RCV001273916]\|Bardet-Biedl syndrome [RCV001058849]\|Inborn genetic diseases [RCV002553849]	uncertain significance	16	56514639	56514639	Human	3	name
26892826	CV844022	single nucleotide variant	NM_031885.5(BBS2):c.112G>A (p.Gly38Ser)	BBS2-related disorder [RCV004536134]\|Bardet-Biedl syndrome 2 [RCV001273918]\|Bardet-Biedl syndrome 2 [RCV002489706]\|Bardet-Biedl syndrome [RCV001068841]	uncertain significance	16	56519751	56519751	Human	2	name , alternate_id
28893780	CV875527	single nucleotide variant	NM_031885.5(BBS2):c.152A>G (p.His51Arg)	Bardet-Biedl syndrome 2 [RCV001121841]	uncertain significance	16	56514646	56514646	Human	1	name
34891605	CV906267	deletion	NM_031885.5(BBS2):c.365del (p.Ala122fs)	Bardet-Biedl syndrome 2 [RCV001175188]	likely pathogenic	16	56511265	56511265	Human	1	name
34891602	CV906268	single nucleotide variant	NM_031885.5(BBS2):c.117G>C (p.Lys39Asn)	Bardet-Biedl syndrome 2 [RCV001175187]	likely benign	16	56519746	56519746	Human	1	name
38477921	CV937497	deletion	NM_031885.5(BBS2):c.504del (p.Leu168fs)	Bardet-Biedl syndrome 2 [RCV003462687]\|Bardet-Biedl syndrome [RCV001205313]	pathogenic	16	56510889	56510889	Human	2	name
38486244	CV937498	deletion	NM_031885.5(BBS2):c.440del (p.Phe147fs)	BBS2-related disorder [RCV004538446]\|Bardet-Biedl syndrome 2 [RCV003462697]\|Bardet-Biedl syndrome [RCV001208815]	pathogenic\|likely pathogenic	16	56511190	56511190	Human	2	name , alternate_id
38471702	CV937499	single nucleotide variant	NM_031885.5(BBS2):c.269A>G (p.Asp90Gly)	Bardet-Biedl syndrome 2 [RCV005021511]\|Bardet-Biedl syndrome [RCV001213840]	likely pathogenic\|uncertain significance	16	56514529	56514529	Human	2	name
38465130	CV957810	single nucleotide variant	NM_031885.5(BBS2):c.1797G>A (p.Lys599=)	BBS2-related disorder [RCV004733213]\|Bardet-Biedl syndrome [RCV001247505]	likely pathogenic\|uncertain significance	16	56497743	56497743	Human	2	name , alternate_id
40889351	CV972237	single nucleotide variant	NM_031885.5(BBS2):c.289C>T (p.Gln97Ter)	Bardet-Biedl syndrome 2 [RCV001264338]	likely pathogenic	16	56514509	56514509	Human	1	name
40889352	CV972238	single nucleotide variant	NM_031885.5(BBS2):c.217C>T (p.Gln73Ter)	Bardet-Biedl syndrome 2 [RCV001264339]\|Bardet-Biedl syndrome 2 [RCV005014316]	likely pathogenic	16	56514581	56514581	Human	1	name
40904822	CV979804	single nucleotide variant	NM_031885.5(BBS2):c.142C>T (p.Arg48Trp)	BBS2-related disorder [RCV004733220]\|Bardet-Biedl syndrome 2 [RCV001277879]\|Bardet-Biedl syndrome 2 [RCV002493470]	uncertain significance	16	56514656	56514656	Human	1	name , alternate_id
126770733	CV1012233	single nucleotide variant	NM_031885.5(BBS2):c.916A>G (p.Ile306Val)	Bardet-Biedl syndrome [RCV001322749]	uncertain significance	16	56502697	56502697	Human	1	name
126766436	CV1012235	single nucleotide variant	NM_031885.5(BBS2):c.485A>G (p.Asn162Ser)	Bardet-Biedl syndrome 2 [RCV002486274]\|Bardet-Biedl syndrome [RCV001320443]	uncertain significance	16	56510908	56510908	Human	2	name
126768093	CV1012236	single nucleotide variant	NM_031885.5(BBS2):c.482A>G (p.Asp161Gly)	Bardet-Biedl syndrome 2 [RCV001835611]\|Bardet-Biedl syndrome 2 [RCV005014413]\|Bardet-Biedl syndrome [RCV001321160]	uncertain significance	16	56510911	56510911	Human	2	name
126755956	CV1012237	single nucleotide variant	NM_031885.5(BBS2):c.470C>T (p.Thr157Met)	BBS2-related disorder [RCV004531105]\|Bardet-Biedl syndrome 2 [RCV001835574]\|Bardet-Biedl syndrome 2 [RCV005014397]\|Bardet-Biedl syndrome [RCV001317065]	uncertain significance	16	56511160	56511160	Human	2	name , alternate_id
126752968	CV1032726	single nucleotide variant	NM_031885.5(BBS2):c.994A>G (p.Ser332Gly)	Bardet-Biedl syndrome [RCV001338518]	uncertain significance	16	56502403	56502403	Human	1	name
126759950	CV1032727	single nucleotide variant	NM_031885.5(BBS2):c.962C>A (p.Thr321Lys)	Bardet-Biedl syndrome 2 [RCV001830420]\|Bardet-Biedl syndrome 2 [RCV005014452]\|Bardet-Biedl syndrome [RCV001340275]	uncertain significance	16	56502435	56502435	Human	2	name
126920481	CV1049700	single nucleotide variant	NM_031885.5(BBS2):c.851A>G (p.Asn284Ser)	Bardet-Biedl syndrome 2 [RCV001826023]\|Bardet-Biedl syndrome [RCV001362900]	uncertain significance	16	56502762	56502762	Human	2	name
127264445	CV1063680	deletion	NM_031885.5(BBS2):c.1371del (p.Lys458fs)	BBS2-related disorder [RCV004531192]\|Bardet-Biedl syndrome [RCV001381231]	pathogenic\|likely pathogenic	16	56500880	56500880	Human	2	name , alternate_id
127263657	CV1063685	single nucleotide variant	NM_031885.5(BBS2):c.326C>A (p.Ser109Ter)	Bardet-Biedl syndrome 2 [RCV003462971]\|Bardet-Biedl syndrome [RCV001381029]	pathogenic\|likely pathogenic	16	56514472	56514472	Human	2	name
150450679	CV1200364	deletion	NM_031885.5(BBS2):c.1725del (p.Phe575fs)	Bardet-Biedl syndrome 2 [RCV001580639]	likely pathogenic	16	56497815	56497815	Human	1	name
150438699	CV1286928	single nucleotide variant	NM_031885.5(BBS2):c.851A>T (p.Asn284Ile)	Retinitis pigmentosa [RCV001724843]	uncertain significance	16	56502762	56502762	Human	2	name
150542425	CV1302601	single nucleotide variant	NM_031885.5(BBS2):c.380C>G (p.Thr127Arg)	BBS2-related disorder [RCV004536294]\|Bardet-Biedl syndrome 2 [RCV002506789]\|Bardet-Biedl syndrome [RCV001868542]\|Inborn genetic diseases [RCV002539150]\|not provided [RCV001761291]	uncertain significance	16	56511250	56511250	Human	3	name , alternate_id
150556640	CV1305558	single nucleotide variant	NM_031885.5(BBS2):c.827C>G (p.Thr276Ser)	BBS2-related disorder [RCV004733377]\|Bardet-Biedl syndrome 2 [RCV005014647]\|not provided [RCV001774547]	uncertain significance	16	56502786	56502786	Human	1	name , alternate_id
151891369	CV1356669	single nucleotide variant	NM_031885.5(BBS2):c.425G>A (p.Cys142Tyr)	Bardet-Biedl syndrome 2 [RCV005016826]\|Bardet-Biedl syndrome [RCV001943348]	uncertain significance	16	56511205	56511205	Human	2	name
151760529	CV1358005	single nucleotide variant	NM_031885.5(BBS2):c.992C>G (p.Thr331Ser)	Bardet-Biedl syndrome [RCV001928456]	uncertain significance	16	56502405	56502405	Human	1	name
151780097	CV1361325	single nucleotide variant	NM_031885.5(BBS2):c.428C>T (p.Ala143Val)	Bardet-Biedl syndrome 2 [RCV005016745]\|Bardet-Biedl syndrome [RCV001875273]	uncertain significance	16	56511202	56511202	Human	2	name
151882371	CV1364168	deletion	NM_031885.5(BBS2):c.1161del (p.Ser388fs)	Bardet-Biedl syndrome [RCV001999816]	pathogenic	16	56501417	56501417	Human	1	name
151886041	CV1367216	single nucleotide variant	NM_031885.5(BBS2):c.365C>G (p.Ala122Gly)	Bardet-Biedl syndrome [RCV002000607]	uncertain significance	16	56511265	56511265	Human	1	name
151891574	CV1368079	deletion	NM_031885.5(BBS2):c.2152del (p.Thr718fs)	Bardet-Biedl syndrome [RCV001888768]	uncertain significance	16	56484775	56484775	Human	1	name
151772384	CV1368386	single nucleotide variant	NM_031885.5(BBS2):c.764A>C (p.Asp255Ala)	Bardet-Biedl syndrome [RCV001950287]	uncertain significance	16	56505990	56505990	Human	1	name
151766945	CV1418916	single nucleotide variant	NM_031885.5(BBS2):c.722A>C (p.Lys241Thr)	BBS2-related disorder [RCV004538626]\|Bardet-Biedl syndrome 2 [RCV002479448]\|Bardet-Biedl syndrome [RCV001929143]	uncertain significance	16	56506032	56506032	Human	2	name , alternate_id
151867369	CV1422619	single nucleotide variant	NM_031885.5(BBS2):c.661C>T (p.Leu221Phe)	Bardet-Biedl syndrome [RCV001884702]	uncertain significance	16	56506176	56506176	Human	1	name
151763137	CV1425606	single nucleotide variant	NM_031885.5(BBS2):c.970A>T (p.Met324Leu)	Bardet-Biedl syndrome [RCV001928757]\|Inborn genetic diseases [RCV002558481]	uncertain significance	16	56502427	56502427	Human	2	name
151887344	CV1426752	single nucleotide variant	NM_031885.5(BBS2):c.651T>G (p.Phe217Leu)	Bardet-Biedl syndrome [RCV002038168]	uncertain significance	16	56506186	56506186	Human	1	name
151794934	CV1448815	single nucleotide variant	NM_031885.5(BBS2):c.407C>G (p.Ala136Gly)	Bardet-Biedl syndrome [RCV001990417]	uncertain significance	16	56511223	56511223	Human	1	name
151797226	CV1467632	single nucleotide variant	NM_031885.5(BBS2):c.400C>T (p.Pro134Ser)	Bardet-Biedl syndrome [RCV001952587]	uncertain significance	16	56511230	56511230	Human	1	name
151836563	CV1469627	single nucleotide variant	NM_031885.5(BBS2):c.685T>G (p.Tyr229Asp)	Bardet-Biedl syndrome [RCV001880851]	uncertain significance	16	56506152	56506152	Human	1	name
151742560	CV1470355	single nucleotide variant	NM_031885.5(BBS2):c.706T>C (p.Trp236Arg)	Bardet-Biedl syndrome [RCV001871157]	uncertain significance	16	56506131	56506131	Human	1	name
151808612	CV1477859	duplication	NM_031885.5(BBS2):c.1662dup (p.Thr555fs)	Bardet-Biedl syndrome [RCV001953591]	pathogenic	16	56497877	56497878	Human	1	name
151889306	CV1479614	single nucleotide variant	NM_031885.5(BBS2):c.897G>C (p.Met299Ile)	Bardet-Biedl syndrome [RCV001888150]	uncertain significance	16	56502716	56502716	Human	1	name
151873954	CV1493421	single nucleotide variant	NM_031885.5(BBS2):c.320A>G (p.Asn107Ser)	Bardet-Biedl syndrome 2 [RCV002484417]\|Bardet-Biedl syndrome [RCV001906834]	uncertain significance	16	56514478	56514478	Human	2	name
151865588	CV1495146	single nucleotide variant	NM_031885.5(BBS2):c.619A>G (p.Thr207Ala)	Bardet-Biedl syndrome [RCV001980676]	uncertain significance	16	56506218	56506218	Human	1	name
151848284	CV1502638	single nucleotide variant	NM_031885.5(BBS2):c.552G>C (p.Glu184Asp)	Bardet-Biedl syndrome [RCV001882257]	uncertain significance	16	56510017	56510017	Human	1	name
151881382	CV1504171	single nucleotide variant	NM_031885.5(BBS2):c.636G>A (p.Met212Ile)	Bardet-Biedl syndrome [RCV002020221]	uncertain significance	16	56506201	56506201	Human	1	name
151794442	CV1504241	single nucleotide variant	NM_031885.5(BBS2):c.806T>C (p.Val269Ala)	Bardet-Biedl syndrome [RCV002010995]	uncertain significance	16	56502807	56502807	Human	1	name
151817588	CV1505650	single nucleotide variant	NM_031885.5(BBS2):c.374T>C (p.Leu125Pro)	Bardet-Biedl syndrome [RCV002049470]	uncertain significance	16	56511256	56511256	Human	1	name
151855278	CV1506612	single nucleotide variant	NM_031885.5(BBS2):c.492T>G (p.Asn164Lys)	Bardet-Biedl syndrome 2 [RCV005016810]\|Bardet-Biedl syndrome [RCV001937868]\|Inborn genetic diseases [RCV002555698]	uncertain significance	16	56510901	56510901	Human	3	name
151865325	CV1509786	single nucleotide variant	NM_031885.5(BBS2):c.974G>A (p.Arg325Lys)	Bardet-Biedl syndrome 2 [RCV002478232]\|Bardet-Biedl syndrome [RCV001924528]	uncertain significance	16	56502423	56502423	Human	2	name
152979602	CV1675656	deletion	NM_031885.5(BBS2):c.1544del (p.Gly515fs)	Bardet-Biedl syndrome 2 [RCV002244246]	likely pathogenic	16	56498552	56498552	Human	1	name
153001555	CV1679463	single nucleotide variant	NM_031885.5(BBS2):c.404T>A (p.Leu135His)	Bardet-Biedl syndrome 2 [RCV002250852]	uncertain significance	16	56511226	56511226	Human	1	name
153347173	CV1691964	single nucleotide variant	NM_031885.5(BBS2):c.830G>T (p.Gly277Val)	not provided [RCV002273449]	uncertain significance	16	56502783	56502783	Human		name
155266564	CV1699133	single nucleotide variant	NM_031885.5(BBS2):c.947G>A (p.Gly316Asp)	not specified [RCV002282928]	uncertain significance	16	56502450	56502450	Human		name
155720076	CV1775611	single nucleotide variant	NM_031885.5(BBS2):c.505T>C (p.Cys169Arg)	Bardet-Biedl syndrome 2 [RCV004584968]\|Bardet-Biedl syndrome [RCV002301252]	uncertain significance	16	56510888	56510888	Human	2	name
155735787	CV1783234	deletion	NM_031885.5(BBS2):c.1461del (p.Ser488fs)	Bardet-Biedl syndrome 2 [RCV002309391]	likely pathogenic	16	56499844	56499844	Human	1	name
155724475	CV1783392	single nucleotide variant	NM_031885.5(BBS2):c.691A>T (p.Lys231Ter)	Bardet-Biedl syndrome 2 [RCV002306836]	likely pathogenic	16	56506146	56506146	Human	1	name
155725036	CV1783493	deletion	NM_031885.5(BBS2):c.1700del (p.Ile567fs)	Bardet-Biedl syndrome 2 [RCV002306937]	likely pathogenic	16	56497840	56497840	Human	1	name
155726804	CV1783900	single nucleotide variant	NM_031885.5(BBS2):c.766G>T (p.Gly256Ter)	Bardet-Biedl syndrome 2 [RCV002307344]	likely pathogenic	16	56505988	56505988	Human	1	name
155737150	CV1784284	single nucleotide variant	NM_031885.5(BBS2):c.802A>T (p.Lys268Ter)	Bardet-Biedl syndrome 2 [RCV002310441]	likely pathogenic	16	56505952	56505952	Human	1	name
156408843	CV1870350	single nucleotide variant	NM_031885.5(BBS2):c.812C>T (p.Ala271Val)	Bardet-Biedl syndrome [RCV003071428]	uncertain significance	16	56502801	56502801	Human	1	name
155958840	CV1873581	single nucleotide variant	NM_031885.5(BBS2):c.701G>A (p.Arg234Gln)	Bardet-Biedl syndrome [RCV003074578]	uncertain significance	16	56506136	56506136	Human	1	name
156356379	CV1876516	single nucleotide variant	NM_031885.5(BBS2):c.674C>G (p.Thr225Arg)	Bardet-Biedl syndrome [RCV003065274]	uncertain significance	16	56506163	56506163	Human	1	name
156234546	CV1885385	single nucleotide variant	NM_031885.5(BBS2):c.878T>C (p.Val293Ala)	BBS2-related disorder [RCV004733572]\|Bardet-Biedl syndrome 2 [RCV005019642]\|Bardet-Biedl syndrome [RCV003085505]\|Inborn genetic diseases [RCV003294458]	uncertain significance	16	56502735	56502735	Human	3	name , alternate_id
10045116	CV188874	single nucleotide variant	NM_031885.5(BBS2):c.508G>A (p.Asp170Asn)	Bardet-Biedl syndrome 2 [RCV001329456]\|not provided [RCV000171247]	likely pathogenic\|uncertain significance	16	56510885	56510885	Human	1	name
156406222	CV1894811	single nucleotide variant	NM_031885.5(BBS2):c.838A>G (p.Ile280Val)	Bardet-Biedl syndrome [RCV003070281]	uncertain significance	16	56502775	56502775	Human	1	name
10047685	CV190910	duplication	NM_031885.5(BBS2):c.1099dup (p.Leu367fs)	Bardet-Biedl syndrome 2 [RCV004567377]\|not provided [RCV000173906]	pathogenic\|likely pathogenic	16	56501478	56501479	Human	1	name
156405295	CV1913030	single nucleotide variant	NM_031885.5(BBS2):c.815G>A (p.Arg272Gln)	Bardet-Biedl syndrome [RCV002606296]	uncertain significance	16	56502798	56502798	Human	1	name
156131632	CV1918022	single nucleotide variant	NM_031885.5(BBS2):c.898G>T (p.Asp300Tyr)	BBS2-related disorder [RCV004733591]\|Bardet-Biedl syndrome [RCV002623333]	uncertain significance	16	56502715	56502715	Human	2	name , alternate_id
156087097	CV1919561	single nucleotide variant	NM_031885.5(BBS2):c.983T>C (p.Leu328Pro)	Bardet-Biedl syndrome [RCV002591774]	uncertain significance	16	56502414	56502414	Human	1	name
156435595	CV1940835	single nucleotide variant	NM_031885.5(BBS2):c.719C>T (p.Ser240Leu)	BBS2-related disorder [RCV004538888]\|Bardet-Biedl syndrome 2 [RCV005021788]\|Bardet-Biedl syndrome [RCV003104938]	uncertain significance	16	56506035	56506035	Human	2	name , alternate_id
156437594	CV1940943	single nucleotide variant	NM_031885.5(BBS2):c.710G>A (p.Arg237Lys)	Bardet-Biedl syndrome 2 [RCV005021792]\|Bardet-Biedl syndrome [RCV003107134]	uncertain significance	16	56506127	56506127	Human	2	name
8596486	CV19611	single nucleotide variant	NM_031885.5(BBS2):c.823C>T (p.Arg275Ter)	BBS2-related disorder [RCV004528072]\|Bardet-Biedl syndrome 2 [RCV000004834]\|Bardet-Biedl syndrome 2 [RCV000762967]\|Bardet-Biedl syndrome [RCV000269226]\|Retinal dystrophy [RCV001074104]\|Retinitis pigmentosa 74 [RCV002466394]\|not provided [RCV000493074]	pathogenic\|likely pathogenic	16	56502790	56502790	Human	5	name , alternate_id
8596487	CV19612	single nucleotide variant	NM_031885.5(BBS2):c.943C>T (p.Arg315Trp)	Autosomal recessive retinitis pigmentosa [RCV001257834]\|Bardet-Biedl syndrome 2 [RCV000675099]\|Bardet-Biedl syndrome 2 [RCV005016240]\|Bardet-Biedl syndrome [RCV001226053]\|Bardet-biedl syndrome 2/4, digenic [RCV000004835]\|Retinal dystrophy [RCV003887853]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	16	56502454	56502454	Human	6	name
8596489	CV19616	single nucleotide variant	NM_031885.5(BBS2):c.311A>C (p.Asp104Ala)	BBS2-related disorder [RCV004532290]\|Bardet-Biedl syndrome 2 [RCV000665304]\|Bardet-Biedl syndrome 2 [RCV000762969]\|Bardet-Biedl syndrome [RCV000587645]\|Bardet-biedl syndrome 1/2, digenic [RCV000004839]\|Retinitis pigmentosa 74 [RCV000190985]\|Retinitis pigmentosa ... (more) [RCV001002876]\|not provided [RCV001582466]	pathogenic\|likely pathogenic	16	56514487	56514487	Human	6	name , alternate_id
8596490	CV19622	single nucleotide variant	NM_031885.5(BBS2):c.646C>T (p.Arg216Ter)	BARDET-BIEDL SYNDROME 2/6, DIGENIC [RCV000004845]\|Bardet-Biedl syndrome 2 [RCV000668482]\|Bardet-Biedl syndrome 2 [RCV005016241]\|Bardet-Biedl syndrome [RCV001056084]\|Retinal dystrophy [RCV000787791]	pathogenic\|likely pathogenic	16	56506191	56506191	Human	5	name
8596491	CV19623	single nucleotide variant	NM_031885.5(BBS2):c.416G>T (p.Gly139Val)	Bardet-Biedl syndrome 2 [RCV000004846]	pathogenic	16	56511214	56511214	Human	1	name
156222234	CV1965506	single nucleotide variant	NM_031885.5(BBS2):c.407C>A (p.Ala136Glu)	Bardet-Biedl syndrome [RCV002596503]\|Retinal dystrophy [RCV003889122]	uncertain significance	16	56511223	56511223	Human	3	name
156345419	CV1989068	single nucleotide variant	NM_031885.5(BBS2):c.770T>A (p.Val257Glu)	Bardet-Biedl syndrome [RCV002631654]	uncertain significance	16	56505984	56505984	Human	1	name
156332871	CV2000716	single nucleotide variant	NM_031885.5(BBS2):c.566G>A (p.Arg189Gln)	Bardet-Biedl syndrome [RCV002649917]	uncertain significance	16	56510003	56510003	Human	1	name
156111053	CV2034977	single nucleotide variant	NM_031885.5(BBS2):c.620C>T (p.Thr207Ile)	Bardet-Biedl syndrome [RCV002761694]	uncertain significance	16	56506217	56506217	Human	1	name
156133357	CV2036680	single nucleotide variant	NM_031885.5(BBS2):c.668A>G (p.Asn223Ser)	Bardet-Biedl syndrome [RCV002786258]	uncertain significance	16	56506169	56506169	Human	1	name
10404666	CV205604	single nucleotide variant	NM_031885.5(BBS2):c.401C>G (p.Pro134Arg)	Bardet-Biedl syndrome 2 [RCV000675071]\|Bardet-Biedl syndrome [RCV001049931]\|Retinal dystrophy [RCV001074319]\|Retinitis pigmentosa 74 [RCV000190988]\|Retinitis pigmentosa [RCV001002875]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	16	56511229	56511229	Human	7	name
156206643	CV2092758	single nucleotide variant	NM_031885.5(BBS2):c.892C>T (p.Arg298Trp)	BBS2-related disorder [RCV004733539]\|Bardet-Biedl syndrome 2 [RCV005019451]\|Bardet-Biedl syndrome [RCV002917993]	uncertain significance	16	56502721	56502721	Human	2	name , alternate_id
156131506	CV2097091	deletion	NM_031885.5(BBS2):c.1662del (p.Thr555fs)	Bardet-Biedl syndrome [RCV002889966]	pathogenic	16	56497878	56497878	Human	1	name
156008620	CV2099901	deletion	NM_031885.5(BBS2):c.1922del (p.Lys641fs)	Bardet-Biedl syndrome [RCV002908980]	pathogenic	16	56485727	56485727	Human	1	name
156233972	CV2108743	single nucleotide variant	NM_031885.5(BBS2):c.871G>A (p.Gly291Ser)	BBS2-related disorder [RCV004733548]\|Bardet-Biedl syndrome 2 [RCV005019471]\|Bardet-Biedl syndrome [RCV002932945]	uncertain significance	16	56502742	56502742	Human	2	name , alternate_id
155935523	CV2125646	single nucleotide variant	NM_031885.5(BBS2):c.326C>T (p.Ser109Leu)	BBS2-related disorder [RCV004725431]\|Bardet-Biedl syndrome [RCV002954203]\|Inborn genetic diseases [RCV002970913]\|Retinal dystrophy [RCV003889191]	uncertain significance	16	56514472	56514472	Human	5	name , alternate_id
155984743	CV2136805	single nucleotide variant	NM_031885.5(BBS2):c.992C>T (p.Thr331Ile)	Bardet-Biedl syndrome [RCV002996276]	uncertain significance	16	56502405	56502405	Human	1	name
156274503	CV2164294	single nucleotide variant	NM_031885.5(BBS2):c.946G>T (p.Gly316Cys)	Bardet-Biedl syndrome [RCV003027105]	uncertain significance	16	56502451	56502451	Human	1	name
156370171	CV2174388	single nucleotide variant	NM_031885.5(BBS2):c.992C>A (p.Thr331Asn)	Bardet-Biedl syndrome [RCV003049636]	uncertain significance	16	56502405	56502405	Human	1	name
156194000	CV2175394	single nucleotide variant	NM_031885.5(BBS2):c.466T>G (p.Trp156Gly)	Bardet-Biedl syndrome [RCV003057931]	uncertain significance	16	56511164	56511164	Human	1	name
156074283	CV2177159	duplication	NM_031885.5(BBS2):c.89_90dup (p.Leu31fs)	Bardet-Biedl syndrome [RCV003053814]	pathogenic	16	56519772	56519773	Human	1	name
329351117	CV2476269	single nucleotide variant	NM_031885.5(BBS2):c.383T>C (p.Leu128Ser)	Bardet-Biedl syndrome [RCV003222510]	likely pathogenic\|uncertain significance	16	56511247	56511247	Human	1	name
329351139	CV2476288	deletion	NM_031885.5(BBS2):c.1555del (p.Leu519fs)	Bardet-Biedl syndrome [RCV003222529]	pathogenic	16	56498541	56498541	Human	1	name
329351878	CV2476643	single nucleotide variant	NM_031885.5(BBS2):c.950A>C (p.Tyr317Ser)	not provided [RCV003222875]	likely pathogenic	16	56502447	56502447	Human		name
11542788	CV255825	single nucleotide variant	NM_031885.5(BBS2):c.367A>G (p.Ile123Val)	Bardet-Biedl syndrome 1 [RCV000709672]\|Bardet-Biedl syndrome 2 [RCV000576482]\|Bardet-Biedl syndrome [RCV000261972]\|Retinal dystrophy [RCV003888665]\|Retinitis pigmentosa 74 [RCV001526785]\|not provided [RCV001706364]\|not specified [RCV000241605]	benign\|uncertain significance	16	56511263	56511263	Human	6	name
11558337	CV260922	single nucleotide variant	NM_031885.5(BBS2):c.806T>G (p.Val269Gly)	Bardet-Biedl syndrome [RCV000256466]	likely pathogenic	16	56502807	56502807	Human	1	name
401737363	CV2699798	single nucleotide variant	NM_031885.5(BBS2):c.649T>G (p.Phe217Val)	Inborn genetic diseases [RCV003291540]	uncertain significance	16	56506188	56506188	Human	1	name
401911248	CV2800232	single nucleotide variant	NM_031885.5(BBS2):c.994A>T (p.Ser332Cys)	BBS2-related disorder [RCV004538953]	uncertain significance	16	56502403	56502403	Human	1	name , trait , alternate_id
401946478	CV2833736	deletion	NM_031885.5(BBS2):c.1355del (p.Pro452fs)	Bardet-Biedl syndrome 2 [RCV003465046]	likely pathogenic	16	56500896	56500896	Human	1	name
401946387	CV2833740	duplication	NM_031885.5(BBS2):c.1725dup (p.Ala576fs)	Bardet-Biedl syndrome 2 [RCV003465050]	likely pathogenic	16	56497814	56497815	Human	1	name
401946385	CV2833741	single nucleotide variant	NM_031885.5(BBS2):c.653G>A (p.Gly218Asp)	Bardet-Biedl syndrome 2 [RCV003465051]\|Bardet-Biedl syndrome [RCV005100252]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	16	56506184	56506184	Human	2	name
405078532	CV2872448	deletion	NM_031885.5(BBS2):c.1393del (p.Ser465fs)	Bardet-Biedl syndrome [RCV003524360]	pathogenic	16	56500858	56500858	Human	1	name
405066924	CV2900002	deletion	NM_031885.5(BBS2):c.1015del (p.Arg339fs)	Bardet-Biedl syndrome [RCV003523563]	pathogenic	16	56502382	56502382	Human	1	name
405057771	CV2923149	single nucleotide variant	NM_031885.5(BBS2):c.775G>T (p.Glu259Ter)	Bardet-Biedl syndrome [RCV003522714]	pathogenic	16	56505979	56505979	Human	1	name
405093265	CV3002844	single nucleotide variant	NM_031885.5(BBS2):c.503T>C (p.Leu168Ser)	Bardet-Biedl syndrome [RCV003635050]	uncertain significance	16	56510890	56510890	Human	1	name
405095537	CV3015740	deletion	NM_031885.5(BBS2):c.1465del (p.Leu489fs)	Bardet-Biedl syndrome [RCV003635268]	pathogenic	16	56499840	56499840	Human	1	name
405244670	CV3161507	single nucleotide variant	NM_031885.5(BBS2):c.451G>A (p.Gly151Arg)	Bardet-Biedl syndrome [RCV003868219]	uncertain significance	16	56511179	56511179	Human	1	name
405263241	CV3188666	single nucleotide variant	NM_031885.5(BBS2):c.940A>G (p.Ile314Val)	Retinal dystrophy [RCV003889730]	uncertain significance	16	56502673	56502673	Human	2	name
405263242	CV3188667	single nucleotide variant	NM_031885.5(BBS2):c.911A>G (p.Gln304Arg)	Retinal dystrophy [RCV003889731]	uncertain significance	16	56502702	56502702	Human	2	name
405263245	CV3188668	single nucleotide variant	NM_031885.5(BBS2):c.824G>A (p.Arg275Gln)	BBS2-related disorder [RCV004733657]\|Retinal dystrophy [RCV003889732]	uncertain significance	16	56502789	56502789	Human	3	name , alternate_id
405263246	CV3188669	single nucleotide variant	NM_031885.5(BBS2):c.792G>A (p.Trp264Ter)	Retinal dystrophy [RCV003889733]	pathogenic	16	56505962	56505962	Human	2	name
405263247	CV3188670	single nucleotide variant	NM_031885.5(BBS2):c.422A>T (p.Asn141Ile)	Retinal dystrophy [RCV003889734]	uncertain significance	16	56511208	56511208	Human	2	name
405277765	CV3196130	single nucleotide variant	NM_031885.5(BBS2):c.829G>A (p.Gly277Arg)	BBS2-related disorder [RCV004537110]	uncertain significance	16	56502784	56502784	Human	1	name , trait , alternate_id
405657554	CV3234993	single nucleotide variant	NM_031885.5(BBS2):c.650T>G (p.Phe217Cys)	Bardet-Biedl syndrome 2 [RCV004017214]	likely pathogenic	16	56506187	56506187	Human	1	name
405705800	CV3301629	single nucleotide variant	NM_031885.5(BBS2):c.527A>G (p.Lys176Arg)	Inborn genetic diseases [RCV004426056]	uncertain significance	16	56510866	56510866	Human	1	name
11645426	CV335455	single nucleotide variant	NM_031885.5(BBS2):c.634A>G (p.Met212Val)	Bardet-Biedl syndrome 2 [RCV000265495]	uncertain significance	16	56506203	56506203	Human	1	name
405870487	CV3399867	deletion	NM_031885.5(BBS2):c.1269del (p.Phe423fs)	Bardet-Biedl syndrome 2 [RCV004574015]\|Bardet-Biedl syndrome 2 [RCV005015190]	likely pathogenic	16	56500982	56500982	Human	1	name
405870366	CV3399869	deletion	NM_031885.5(BBS2):c.2077del (p.Gln693fs)	Bardet-Biedl syndrome 2 [RCV004574017]	likely pathogenic	16	56484850	56484850	Human	1	name
405870369	CV3399870	single nucleotide variant	NM_031885.5(BBS2):c.791G>A (p.Trp264Ter)	Bardet-Biedl syndrome 2 [RCV004574018]	likely pathogenic	16	56505963	56505963	Human	1	name
407424646	CV3407416	single nucleotide variant	NM_031885.5(BBS2):c.926C>T (p.Ser309Leu)	Bardet-Biedl syndrome 2 [RCV004584262]	uncertain significance	16	56502687	56502687	Human	1	name
11618095	CV341911	single nucleotide variant	NM_031885.5(BBS2):c.865A>G (p.Ile289Val)	Bardet-Biedl syndrome 2 [RCV001094337]\|Bardet-Biedl syndrome [RCV000310340]\|Retinal dystrophy [RCV003888748]\|not provided [RCV001706511]\|not specified [RCV001579626]	benign\|likely benign\|conflicting interpretations of pathogenicity	16	56502748	56502748	Human	4	name
11652500	CV341912	single nucleotide variant	NM_031885.5(BBS2):c.766G>A (p.Gly256Arg)	Bardet-Biedl syndrome 2 [RCV000674764]\|Bardet-Biedl syndrome [RCV000305514]	uncertain significance	16	56505988	56505988	Human	2	name
408368034	CV3513292	single nucleotide variant	NM_031885.5(BBS2):c.764A>T (p.Asp255Val)	BBS2-related disorder [RCV004733841]	uncertain significance	16	56505990	56505990	Human	1	name , trait , alternate_id
408368110	CV3513665	single nucleotide variant	NM_031885.5(BBS2):c.446A>T (p.His149Leu)	BBS2-related disorder [RCV004733853]	uncertain significance	16	56511184	56511184	Human	1	name , trait , alternate_id
408368136	CV3516540	single nucleotide variant	NM_031885.5(BBS2):c.568G>A (p.Val190Ile)	BBS2-related disorder [RCV004733938]	uncertain significance	16	56510001	56510001	Human	1	name , trait , alternate_id
597626609	CV3642956	single nucleotide variant	NM_031885.5(BBS2):c.890A>T (p.Tyr297Phe)	Inborn genetic diseases [RCV004965160]	uncertain significance	16	56502723	56502723	Human	1	name
597750145	CV3705054	duplication	NM_031885.5(BBS2):c.1574dup (p.His525fs)	Bardet-Biedl syndrome 2 [RCV005015618]	likely pathogenic	16	56498521	56498522	Human	1	name
597750218	CV3705067	single nucleotide variant	NM_031885.5(BBS2):c.977G>A (p.Gly326Asp)	Bardet-Biedl syndrome 2 [RCV005015631]	uncertain significance	16	56502420	56502420	Human	1	name
597750223	CV3705069	single nucleotide variant	NM_031885.5(BBS2):c.862G>A (p.Ala288Thr)	Bardet-Biedl syndrome 2 [RCV005015632]	uncertain significance	16	56502751	56502751	Human	1	name
597750293	CV3705080	single nucleotide variant	NM_031885.5(BBS2):c.416G>A (p.Gly139Asp)	Bardet-Biedl syndrome 2 [RCV005015643]	likely pathogenic	16	56511214	56511214	Human	1	name
597750303	CV3705082	single nucleotide variant	NM_031885.5(BBS2):c.353A>T (p.Asp118Val)	Bardet-Biedl syndrome 2 [RCV005015645]	uncertain significance	16	56511277	56511277	Human	1	name
597750316	CV3705084	single nucleotide variant	NM_031885.5(BBS2):c.317A>G (p.Tyr106Cys)	Bardet-Biedl syndrome 2 [RCV005015647]	uncertain significance	16	56514481	56514481	Human	1	name
597750322	CV3705085	single nucleotide variant	NM_031885.5(BBS2):c.307T>C (p.Tyr103His)	Bardet-Biedl syndrome 2 [RCV005015648]	uncertain significance	16	56514491	56514491	Human	1	name
597833531	CV3735602	single nucleotide variant	NM_031885.5(BBS2):c.815G>C (p.Arg272Pro)	not provided [RCV005063464]	uncertain significance	16	56502798	56502798	Human		name
597895414	CV3763584	deletion	NM_031885.5(BBS2):c.1830del (p.Ser611fs)	Bardet-Biedl syndrome [RCV005111165]	pathogenic	16	56497047	56497047	Human	1	name
597861140	CV3880792	deletion	NM_031885.5(BBS2):c.1197del (p.His399fs)	Bardet-Biedl syndrome 2 [RCV005229626]	pathogenic	16	56501381	56501381	Human	1	name
12881479	CV401731	single nucleotide variant	NM_031885.5(BBS2):c.358G>A (p.Ala120Thr)	BBS2-related disorder [RCV004533200]\|Bardet-Biedl syndrome 2 [RCV001833591]\|Bardet-Biedl syndrome 2 [RCV002475884]\|Bardet-Biedl syndrome [RCV000457908]\|Inborn genetic diseases [RCV002523348]	uncertain significance	16	56511272	56511272	Human	3	name , alternate_id
8602677	CV44419	deletion	NM_031885.5(BBS2):c.1770del (p.Phe590fs)	BBS2-related disorder [RCV004532405]\|Bardet-Biedl syndrome 2 [RCV000190358]\|Bardet-Biedl syndrome [RCV000029407]	pathogenic\|likely pathogenic	16	56497770	56497770	Human	2	name , alternate_id
13788883	CV547762	single nucleotide variant	NM_031885.5(BBS2):c.565C>T (p.Arg189Ter)	Bardet-Biedl syndrome 2 [RCV000665648]\|Bardet-Biedl syndrome [RCV000796443]\|Retinal dystrophy [RCV004817870]\|not provided [RCV005256665]	pathogenic	16	56510004	56510004	Human	4	name
13784206	CV547776	single nucleotide variant	NM_031885.5(BBS2):c.334T>C (p.Phe112Leu)	Bardet-Biedl syndrome 2 [RCV000670631]\|Bardet-Biedl syndrome 2 [RCV002507171]\|Bardet-Biedl syndrome [RCV002531255]	uncertain significance	16	56514464	56514464	Human	2	name
13784326	CV547802	single nucleotide variant	NM_031885.5(BBS2):c.944G>A (p.Arg315Gln)	Bardet-Biedl syndrome 2 [RCV000670759]\|Bardet-Biedl syndrome 2 [RCV005019139]\|Bardet-Biedl syndrome [RCV002532103]\|Retinal dystrophy [RCV003889960]	pathogenic\|likely pathogenic\|uncertain significance\|no classifications from unflagged records	16	56502453	56502453	Human	4	name
13791424	CV548029	single nucleotide variant	NM_031885.5(BBS2):c.814C>T (p.Arg272Ter)	BBS2-related disorder [RCV004732990]\|Bardet-Biedl syndrome 2 [RCV000667444]\|Bardet-Biedl syndrome 2 [RCV002499159]\|Bardet-Biedl syndrome [RCV000808886]\|Retinal dystrophy [RCV003889949]\|not provided [RCV001528280]	pathogenic	16	56502799	56502799	Human	4	name , alternate_id
13782986	CV548043	single nucleotide variant	NM_031885.5(BBS2):c.700C>T (p.Arg234Ter)	BBS2-related disorder [RCV004544929]\|Bardet-Biedl syndrome 2 [RCV000669549]\|Bardet-Biedl syndrome 2 [RCV002507167]\|Bardet-Biedl syndrome [RCV000815857]\|Retinal dystrophy [RCV003889955]\|not provided [RCV001597198]	pathogenic\|uncertain significance\|no classifications from unflagged records	16	56506137	56506137	Human	4	name , alternate_id
13785166	CV548059	single nucleotide variant	NM_031885.5(BBS2):c.365C>T (p.Ala122Val)	Bardet-Biedl syndrome 2 [RCV000671722]\|Bardet-Biedl syndrome 2 [RCV002485555]	uncertain significance	16	56511265	56511265	Human	1	name
13787176	CV548509	single nucleotide variant	NM_031885.5(BBS2):c.691A>G (p.Lys231Glu)	Bardet-Biedl syndrome 2 [RCV000664688]\|Bardet-Biedl syndrome [RCV001861738]	uncertain significance	16	56506146	56506146	Human	2	name
14349728	CV576242	single nucleotide variant	NM_031885.5(BBS2):c.522T>A (p.Asp174Glu)	Bardet-Biedl syndrome 2 [RCV003460994]\|Bardet-Biedl syndrome 2 [RCV005021107]\|Bardet-Biedl syndrome [RCV000735928]	pathogenic\|likely pathogenic	16	56510871	56510871	Human	2	name
13831661	CV582159	deletion	NM_031885.5(BBS2):c.1112del (p.Asp371fs)	Bardet-Biedl syndrome 2 [RCV003460999]\|Bardet-Biedl syndrome 2 [RCV005021122]\|Bardet-Biedl syndrome [RCV005357966]\|not provided [RCV000722342]	likely pathogenic\|uncertain significance	16	56501466	56501466	Human	2	name
14396864	CV613041	single nucleotide variant	NM_031885.5(BBS2):c.413T>G (p.Ile138Ser)	Retinitis pigmentosa [RCV001199435]\|not provided [RCV000761935]	pathogenic\|uncertain significance	16	56511217	56511217	Human	2	name
14696541	CV613756	single nucleotide variant	NM_031885.5(BBS2):c.986T>C (p.Met329Thr)	BBS2-related disorder [RCV004535895]\|Bardet-Biedl syndrome 2 [RCV002485977]\|Bardet-Biedl syndrome [RCV000782278]	uncertain significance	16	56502411	56502411	Human	2	name , alternate_id
14698385	CV624003	duplication	NM_031885.5(BBS2):c.1290dup (p.His431fs)	Bardet-Biedl syndrome 2 [RCV003461063]\|Retinitis pigmentosa [RCV000787789]	pathogenic\|likely pathogenic	16	56500960	56500961	Human	3	name
14735563	CV644765	single nucleotide variant	NM_031885.5(BBS2):c.950A>G (p.Tyr317Cys)	Bardet-Biedl syndrome 2 [RCV001825586]\|Bardet-Biedl syndrome [RCV000803214]	pathogenic\|uncertain significance	16	56502447	56502447	Human	2	name
15119177	CV684610	single nucleotide variant	NM_031885.5(BBS2):c.995G>A (p.Ser332Asn)	BBS2-related disorder [RCV004733066]\|Bardet-Biedl syndrome 2 [RCV001273912]\|Bardet-Biedl syndrome [RCV000861456]	likely benign\|uncertain significance	16	56502402	56502402	Human	2	name , alternate_id
21404610	CV802209	single nucleotide variant	NM_031885.5(BBS2):c.685T>C (p.Tyr229His)	BBS2-related disorder [RCV004733109]\|Bardet-Biedl syndrome 2 [RCV001832327]\|Bardet-Biedl syndrome 2 [RCV005021314]\|Bardet-Biedl syndrome [RCV001061887]\|Retinitis pigmentosa 74 [RCV001005003]\|not provided [RCV004721700]	likely pathogenic\|uncertain significance	16	56506152	56506152	Human	3	name , alternate_id
21404612	CV802210	single nucleotide variant	NM_031885.5(BBS2):c.662T>C (p.Leu221Pro)	Bardet-Biedl syndrome 2 [RCV002489516]\|Bardet-Biedl syndrome [RCV001862747]\|Retinitis pigmentosa 74 [RCV001005004]	uncertain significance	16	56506175	56506175	Human	3	name
26912681	CV844005	duplication	NM_031885.5(BBS2):c.1843dup (p.Ala615fs)	Bardet-Biedl syndrome 2 [RCV003461447]\|Bardet-Biedl syndrome [RCV001039563]	pathogenic\|likely pathogenic	16	56497033	56497034	Human	2	name
26892129	CV844016	single nucleotide variant	NM_031885.5(BBS2):c.983T>A (p.Leu328His)	Bardet-Biedl syndrome 2 [RCV001273853]\|Bardet-Biedl syndrome [RCV001068551]	uncertain significance	16	56502414	56502414	Human	2	name
26914453	CV844018	single nucleotide variant	NM_031885.5(BBS2):c.635T>C (p.Met212Thr)	BBS2-related disorder [RCV004528360]\|Bardet-Biedl syndrome 2 [RCV001836095]\|Bardet-Biedl syndrome 2 [RCV002489640]\|Bardet-Biedl syndrome [RCV001054983]\|Retinitis pigmentosa 74 [RCV001376259]	uncertain significance	16	56506202	56506202	Human	3	name , alternate_id
26916819	CV844019	single nucleotide variant	NM_031885.5(BBS2):c.581A>G (p.Asp194Gly)	BBS2-related disorder [RCV004528364]\|Bardet-Biedl syndrome [RCV001056596]	uncertain significance	16	56509988	56509988	Human	2	name , alternate_id
28888191	CV875523	single nucleotide variant	NM_031885.5(BBS2):c.725A>G (p.Asn242Ser)	BBS2-related disorder [RCV004538347]\|Bardet-Biedl syndrome 2 [RCV001119862]\|Bardet-Biedl syndrome 2 [RCV002491373]\|Bardet-Biedl syndrome [RCV001241545]\|Inborn genetic diseases [RCV004032218]\|not provided [RCV004693746]	uncertain significance	16	56506029	56506029	Human	3	name , alternate_id
34895775	CV917216	duplication	NM_031885.5(BBS2):c.1206dup (p.Arg403fs)	Bardet-Biedl syndrome 2 [RCV003462668]\|Bardet-Biedl syndrome [RCV001192942]	pathogenic\|likely pathogenic	16	56501371	56501372	Human	2	name
38489424	CV949444	single nucleotide variant	NM_031885.5(BBS2):c.988G>A (p.Asp330Asn)	BBS2-related disorder [RCV004733197]\|Bardet-Biedl syndrome 2 [RCV001828902]\|Bardet-Biedl syndrome [RCV001238411]	uncertain significance	16	56502409	56502409	Human	2	name , alternate_id
38497780	CV957812	single nucleotide variant	NM_031885.5(BBS2):c.962C>T (p.Thr321Met)	BBS2-related disorder [RCV004538507]\|Bardet-Biedl syndrome 2 [RCV001829026]\|Bardet-Biedl syndrome 2 [RCV002484343]\|Bardet-Biedl syndrome [RCV001243382]\|Inborn genetic diseases [RCV003365284]	likely benign\|uncertain significance	16	56502435	56502435	Human	3	name , alternate_id
38491806	CV957813	single nucleotide variant	NM_031885.5(BBS2):c.422A>G (p.Asn141Ser)	BBS2-related disorder [RCV004545144]\|Bardet-Biedl syndrome 2 [RCV001559167]\|Bardet-Biedl syndrome 2 [RCV002491788]\|Bardet-Biedl syndrome [RCV001239677]\|Retinitis pigmentosa 74 [RCV001559168]\|not provided [RCV004692290]	likely benign\|uncertain significance	16	56511208	56511208	Human	3	name , alternate_id
40889347	CV972233	single nucleotide variant	NM_031885.5(BBS2):c.583G>T (p.Glu195Ter)	Bardet-Biedl syndrome 2 [RCV001264334]	likely pathogenic	16	56509986	56509986	Human	1	name
40889348	CV972234	single nucleotide variant	NM_031885.5(BBS2):c.497T>A (p.Leu166Ter)	Bardet-Biedl syndrome 2 [RCV001264335]\|Bardet-Biedl syndrome [RCV002541615]	pathogenic\|likely pathogenic	16	56510896	56510896	Human	2	name
40889349	CV972235	single nucleotide variant	NM_031885.5(BBS2):c.343G>T (p.Glu115Ter)	Bardet-Biedl syndrome 2 [RCV001264336]	likely pathogenic	16	56514455	56514455	Human	1	name
40889350	CV972236	single nucleotide variant	NM_031885.5(BBS2):c.302T>A (p.Leu101Ter)	Bardet-Biedl syndrome 2 [RCV001264337]	likely pathogenic	16	56514496	56514496	Human	1	name
126767702	CV996996	single nucleotide variant	NM_031885.5(BBS2):c.913T>G (p.Leu305Val)	Bardet-Biedl syndrome 2 [RCV001835452]\|Bardet-Biedl syndrome [RCV001302388]	uncertain significance	16	56502700	56502700	Human	2	name
126735588	CV996997	single nucleotide variant	NM_031885.5(BBS2):c.544G>C (p.Gly182Arg)	Bardet-Biedl syndrome [RCV001295098]	uncertain significance	16	56510025	56510025	Human	1	name
126738583	CV1012229	single nucleotide variant	NM_031885.5(BBS2):c.1879G>A (p.Gly627Arg)	BBS2-related disorder [RCV004733246]\|Bardet-Biedl syndrome 2 [RCV001830279]\|Bardet-Biedl syndrome 2 [RCV002486226]\|Bardet-Biedl syndrome [RCV001314124]	uncertain significance	16	56496998	56496998	Human	2	alternate_id
126731442	CV1012231	single nucleotide variant	NM_031885.5(BBS2):c.1238G>A (p.Arg413Gln)	BBS2-related disorder [RCV004531102]\|Bardet-Biedl syndrome [RCV001313039]\|Inborn genetic diseases [RCV004968012]\|not provided [RCV005367827]	likely benign\|uncertain significance	16	56501013	56501013	Human	3	alternate_id
126727770	CV1032723	single nucleotide variant	NM_031885.5(BBS2):c.1673C>T (p.Thr558Ile)	BBS2-related disorder [RCV004733265]\|Bardet-Biedl syndrome 2 [RCV001831145]\|Bardet-Biedl syndrome [RCV001348771]\|Retinal dystrophy [RCV003888053]	likely pathogenic\|uncertain significance	16	56497867	56497867	Human	4	alternate_id
126918590	CV1049698	single nucleotide variant	NM_031885.5(BBS2):c.1381G>A (p.Val461Met)	BBS2-related disorder [RCV004733271]\|Bardet-Biedl syndrome 2 [RCV001831222]\|Bardet-Biedl syndrome 2 [RCV002476650]\|Bardet-Biedl syndrome [RCV001361808]	uncertain significance	16	56500870	56500870	Human	2	alternate_id
126919413	CV1049699	single nucleotide variant	NM_031885.5(BBS2):c.1333A>G (p.Ile445Val)	BBS2-related disorder [RCV004531163]\|Bardet-Biedl syndrome 2 [RCV001831228]\|Bardet-Biedl syndrome 2 [RCV002476651]\|Bardet-Biedl syndrome [RCV001362277]	uncertain significance	16	56500918	56500918	Human	2	alternate_id
150412361	CV1185959	single nucleotide variant	NM_031885.5(BBS2):c.1973A>G (p.Tyr658Cys)	BBS2-related disorder [RCV004528515]\|Bardet-Biedl syndrome 2 [RCV001559169]\|Bardet-Biedl syndrome 2 [RCV002506664]\|Retinitis pigmentosa 74 [RCV001559170]	uncertain significance	16	56485676	56485676	Human	2	alternate_id
151754503	CV1343217	single nucleotide variant	NM_031885.5(BBS2):c.1543G>T (p.Gly515Cys)	BBS2-related disorder [RCV004733455]\|Bardet-Biedl syndrome 2 [RCV002492389]\|Bardet-Biedl syndrome [RCV002043620]\|not provided [RCV003235662]	uncertain significance	16	56498553	56498553	Human	2	alternate_id
151816703	CV1344633	single nucleotide variant	NM_031885.5(BBS2):c.1786G>A (p.Val596Met)	BBS2-related disorder [RCV004733415]\|Bardet-Biedl syndrome 2 [RCV005016825]\|Bardet-Biedl syndrome [RCV001919154]\|Inborn genetic diseases [RCV004603071]	uncertain significance	16	56497754	56497754	Human	3	alternate_id
151810574	CV1345150	single nucleotide variant	NM_031885.5(BBS2):c.1602T>G (p.Cys534Trp)	BBS2-related disorder [RCV004536378]\|Bardet-Biedl syndrome [RCV001878228]\|not provided [RCV003146268]	uncertain significance	16	56498494	56498494	Human	2	alternate_id
151808171	CV1362719	single nucleotide variant	NM_031885.5(BBS2):c.1973A>T (p.Tyr658Phe)	BBS2-related disorder [RCV004733441]\|Bardet-Biedl syndrome [RCV001991568]	uncertain significance	16	56485676	56485676	Human	2	alternate_id
151833063	CV1416432	single nucleotide variant	NM_031885.5(BBS2):c.1616G>A (p.Arg539Gln)	BBS2-related disorder [RCV004733431]\|Bardet-Biedl syndrome [RCV002014498]\|Inborn genetic diseases [RCV002563550]	uncertain significance	16	56498480	56498480	Human	3	alternate_id
151725799	CV1455769	single nucleotide variant	NM_031885.5(BBS2):c.1439G>A (p.Arg480Gln)	BBS2-related disorder [RCV004733452]\|Bardet-Biedl syndrome 2 [RCV002507800]\|Bardet-Biedl syndrome [RCV002020760]	uncertain significance	16	56499866	56499866	Human	2	alternate_id
151877765	CV1475735	single nucleotide variant	NM_031885.5(BBS2):c.1713G>A (p.Met571Ile)	BBS2-related disorder [RCV004733442]\|Bardet-Biedl syndrome 2 [RCV002498001]\|Bardet-Biedl syndrome [RCV002019747]\|Inborn genetic diseases [RCV003269066]	uncertain significance	16	56497827	56497827	Human	3	alternate_id
151734198	CV1512535	single nucleotide variant	NM_031885.5(BBS2):c.1981C>T (p.Arg661Cys)	BBS2-related disorder [RCV004733454]\|Bardet-Biedl syndrome [RCV002021609]	uncertain significance	16	56485668	56485668	Human	2	alternate_id
156017830	CV1885404	single nucleotide variant	NM_031885.5(BBS2):c.1682T>C (p.Ile561Thr)	BBS2-related disorder [RCV004540530]\|Bardet-Biedl syndrome [RCV003077461]\|Inborn genetic diseases [RCV004963403]	uncertain significance	16	56497858	56497858	Human	3	alternate_id
10049765	CV190911	single nucleotide variant	NM_031885.5(BBS2):c.1190C>G (p.Thr397Ser)	BBS2-related disorder [RCV004732737]\|Bardet-Biedl syndrome 2 [RCV002500464]\|Bardet-Biedl syndrome [RCV001326975]\|Inborn genetic diseases [RCV004020062]\|not provided [RCV000173907]	uncertain significance	16	56501388	56501388	Human	3	alternate_id
155946463	CV1911340	single nucleotide variant	NM_031885.5(BBS2):c.1591T>A (p.Phe531Ile)	BBS2-related disorder [RCV004733593]\|Bardet-Biedl syndrome [RCV002615965]	uncertain significance	16	56498505	56498505	Human	2	alternate_id
156418557	CV1922321	single nucleotide variant	NM_031885.5(BBS2):c.1208G>A (p.Arg403His)	BBS2-related disorder [RCV004733594]\|Bardet-Biedl syndrome 2 [RCV005021618]\|Bardet-Biedl syndrome [RCV002611755]	uncertain significance	16	56501370	56501370	Human	2	alternate_id
156151799	CV1929383	single nucleotide variant	NM_031885.5(BBS2):c.1309C>G (p.Leu437Val)	BBS2-related disorder [RCV004538832]\|Bardet-Biedl syndrome [RCV002624029]	uncertain significance	16	56500942	56500942	Human	2	alternate_id
156439206	CV1944072	single nucleotide variant	NM_031885.5(BBS2):c.1121G>A (p.Arg374Gln)	BBS2-related disorder [RCV004733609]\|Bardet-Biedl syndrome [RCV003109163]\|Inborn genetic diseases [RCV004244580]	uncertain significance	16	56501457	56501457	Human	3	alternate_id
156204247	CV1959172	single nucleotide variant	NM_031885.5(BBS2):c.1514A>G (p.Glu505Gly)	BBS2-related disorder [RCV004733511]\|Bardet-Biedl syndrome 2 [RCV005019228]\|Bardet-Biedl syndrome [RCV002574895]	uncertain significance	16	56499791	56499791	Human	2	alternate_id
8558158	CV19617	single nucleotide variant	NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro)	BBS2-related disorder [RCV000380902]\|Bardet-Biedl syndrome 2 [RCV000004840]\|Bardet-Biedl syndrome 2 [RCV002490315]\|Bardet-Biedl syndrome [RCV000589221]\|Inborn genetic diseases [RCV002512776]\|Retinal dystrophy [RCV001073916]\|Retinitis pigmentosa 74 [RCV000190986] ... (more) \|Retinitis pigmentosa [RCV001002874]\|not provided [RCV001268711]	pathogenic\|likely pathogenic	16	56496982	56496982	Human	8	alternate_id
10408785	CV213194	single nucleotide variant	NM_031885.5(BBS2):c.1523A>C (p.Gln508Pro)	BBS2-related disorder [RCV004530199]\|Bardet-Biedl syndrome 2 [RCV000665496]\|Bardet-Biedl syndrome [RCV000199008]\|not provided [RCV001729451]\|not specified [RCV001818493]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	56499782	56499782	Human	2	alternate_id
156025846	CV2139170	single nucleotide variant	NM_031885.5(BBS2):c.1943A>G (p.Tyr648Cys)	BBS2-related disorder [RCV004536513]\|Bardet-Biedl syndrome [RCV002998915]\|Inborn genetic diseases [RCV002998914]	uncertain significance	16	56485706	56485706	Human	3	alternate_id
156199450	CV2362870	single nucleotide variant	NM_031885.5(BBS2):c.2057G>A (p.Arg686Gln)	BBS2-related disorder [RCV004733608]\|Bardet-Biedl syndrome 2 [RCV005021756]\|Inborn genetic diseases [RCV002666380]	uncertain significance	16	56485592	56485592	Human	2	alternate_id
401770107	CV2710897	single nucleotide variant	NM_031885.5(BBS2):c.1214C>G (p.Ser405Cys)	BBS2-related disorder [RCV004725706]\|Inborn genetic diseases [RCV003260919]	uncertain significance	16	56501364	56501364	Human	2	alternate_id
405265255	CV3202331	single nucleotide variant	NM_031885.5(BBS2):c.1057C>T (p.Arg353Cys)	BBS2-related disorder [RCV004537032]\|Inborn genetic diseases [RCV004369761]	uncertain significance	16	56502340	56502340	Human	2	alternate_id
405261432	CV3210031	single nucleotide variant	NM_031885.5(BBS2):c.1669A>C (p.Asn557His)	BBS2-related disorder [RCV004544109]	uncertain significance	16	56497871	56497871	Human	1	trait , alternate_id
405279677	CV3217653	single nucleotide variant	NM_031885.5(BBS2):c.1700T>C (p.Ile567Thr)	BBS2-related disorder [RCV004542486]\|Bardet-Biedl syndrome 2 [RCV005015106]	uncertain significance	16	56497840	56497840	Human	1	alternate_id
11626037	CV325832	single nucleotide variant	NM_031885.5(BBS2):c.1207C>T (p.Arg403Cys)	BBS2-related disorder [RCV004544576]\|Bardet-Biedl syndrome 2 [RCV000665273]\|Bardet-Biedl syndrome 2 [RCV005016707]\|Bardet-Biedl syndrome [RCV001850699]\|not provided [RCV004694280]\|not specified [RCV003488537]	likely pathogenic\|uncertain significance	16	56501371	56501371	Human	2	alternate_id
11623518	CV343437	single nucleotide variant	NM_031885.5(BBS2):c.1486A>G (p.Ile496Val)	BBS2-related disorder [RCV004544575]\|Bardet-Biedl syndrome 2 [RCV000374098]\|Bardet-Biedl syndrome [RCV003114483]\|Retinal dystrophy [RCV003888747]\|not provided [RCV004694279]	uncertain significance	16	56499819	56499819	Human	4	alternate_id
408382674	CV3503585	single nucleotide variant	NM_031885.5(BBS2):c.1935G>T (p.Met645Ile)	BBS2-related disorder [RCV004730075]	uncertain significance	16	56485714	56485714	Human	1	trait , alternate_id
408382756	CV3503675	single nucleotide variant	NM_031885.5(BBS2):c.1828C>T (p.Leu610Phe)	BBS2-related disorder [RCV004730138]	uncertain significance	16	56497049	56497049	Human	1	trait , alternate_id
408371246	CV3503708	single nucleotide variant	NM_031885.5(BBS2):c.850A>C (p.Asn284His)	BBS2-related disorder [RCV004724593]	uncertain significance	16	56502763	56502763	Human	1	trait , alternate_id
408371002	CV3504622	single nucleotide variant	NM_031885.5(BBS2):c.1304A>G (p.His435Arg)	BBS2-related disorder [RCV004724348]\|Bardet-Biedl syndrome 2 [RCV005017233]	uncertain significance	16	56500947	56500947	Human	1	alternate_id
408376063	CV3505507	single nucleotide variant	NM_031885.5(BBS2):c.1217C>G (p.Thr406Ser)	BBS2-related disorder [RCV004726528]	uncertain significance	16	56501361	56501361	Human	1	trait , alternate_id
408382878	CV3506103	single nucleotide variant	NM_031885.5(BBS2):c.407C>T (p.Ala136Val)	BBS2-related disorder [RCV004730214]\|Bardet-Biedl syndrome 2 [RCV005017234]	uncertain significance	16	56511223	56511223	Human	1	alternate_id
408382916	CV3506151	single nucleotide variant	NM_031885.5(BBS2):c.1621G>C (p.Gly541Arg)	BBS2-related disorder [RCV004730241]	uncertain significance	16	56498475	56498475	Human	1	trait , alternate_id
408367895	CV3507417	indel	NM_031885.5(BBS2):c.365_369delinsTCCTTTTACTTTTCTTAG (p.Ala122fs)	BBS2-related disorder [RCV004733679]	likely pathogenic	16	56511261	56511265	Human		trait , alternate_id
408367907	CV3507651	single nucleotide variant	NM_031885.5(BBS2):c.1743A>T (p.Gln581His)	BBS2-related disorder [RCV004733691]	uncertain significance	16	56497797	56497797	Human	1	trait , alternate_id
408367985	CV3510981	single nucleotide variant	NM_031885.5(BBS2):c.1460C>T (p.Thr487Ile)	BBS2-related disorder [RCV004733791]	uncertain significance	16	56499845	56499845	Human	1	trait , alternate_id
408368001	CV3511718	single nucleotide variant	NM_031885.5(BBS2):c.1048C>G (p.Leu350Val)	BBS2-related disorder [RCV004733807]	uncertain significance	16	56502349	56502349	Human	1	trait , alternate_id
408368006	CV3511947	single nucleotide variant	NM_031885.5(BBS2):c.1624G>A (p.Gly542Ser)	BBS2-related disorder [RCV004733812]	uncertain significance	16	56498472	56498472	Human	1	trait , alternate_id
408368015	CV3512594	single nucleotide variant	NM_031885.5(BBS2):c.1981C>A (p.Arg661Ser)	BBS2-related disorder [RCV004733821]\|Bardet-Biedl syndrome 2 [RCV005017247]	uncertain significance	16	56485668	56485668	Human	1	alternate_id
408368035	CV3513297	single nucleotide variant	NM_031885.5(BBS2):c.1064A>G (p.Tyr355Cys)	BBS2-related disorder [RCV004733842]	uncertain significance	16	56502333	56502333	Human	1	trait , alternate_id
408368051	CV3513821	single nucleotide variant	NM_031885.5(BBS2):c.1154C>T (p.Thr385Ile)	BBS2-related disorder [RCV004733858]	uncertain significance	16	56501424	56501424	Human	1	trait , alternate_id
408368165	CV3514390	single nucleotide variant	NM_031885.5(BBS2):c.443A>G (p.Asn148Ser)	BBS2-related disorder [RCV004733869]\|Bardet-Biedl syndrome 2 [RCV005017250]	uncertain significance	16	56511187	56511187	Human	1	alternate_id
408368125	CV3516075	single nucleotide variant	NM_031885.5(BBS2):c.1753G>C (p.Asp585His)	BBS2-related disorder [RCV004733929]	uncertain significance	16	56497787	56497787	Human	1	trait , alternate_id
408368146	CV3516799	single nucleotide variant	NM_031885.5(BBS2):c.1346A>G (p.Lys449Arg)	BBS2-related disorder [RCV004733947]	uncertain significance	16	56500905	56500905	Human	1	trait , alternate_id
12738712	CV358376	single nucleotide variant	NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter)	BBS2-related disorder [RCV004530497]\|Bardet-Biedl syndrome 2 [RCV000411465]\|Bardet-Biedl syndrome 2 [RCV000762966]\|Bardet-Biedl syndrome [RCV001069542]\|Retinal dystrophy [RCV003889878]\|not provided [RCV001571149]	pathogenic\|likely pathogenic	16	56501014	56501014	Human	4	alternate_id
13518153	CV487920	single nucleotide variant	NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter)	BBS2-related disorder [RCV004530646]\|Bardet-Biedl syndrome 2 [RCV000667111]\|Bardet-Biedl syndrome 2 [RCV005019012]\|Bardet-Biedl syndrome [RCV000590291]\|Inborn genetic diseases [RCV000622316]\|Retinal dystrophy [RCV004817790]\|Retinitis pigmentosa 74 [RCV001376258]	pathogenic\|likely pathogenic	16	56484820	56484820	Human	6	alternate_id
13789193	CV548017	single nucleotide variant	NM_031885.5(BBS2):c.1891G>A (p.Ala631Thr)	BBS2-related disorder [RCV004527724]\|Bardet-Biedl syndrome 2 [RCV000665843]\|Bardet-Biedl syndrome 2 [RCV002477482]\|Bardet-Biedl syndrome [RCV002530668]	uncertain significance	16	56496986	56496986	Human	2	alternate_id
13788195	CV548023	single nucleotide variant	NM_031885.5(BBS2):c.1780C>T (p.Arg594Ter)	BBS2-related disorder [RCV004732987]\|Bardet-Biedl syndrome 2 [RCV000665245]\|Bardet-Biedl syndrome 2 [RCV002507153]\|Bardet-Biedl syndrome [RCV000802962]	pathogenic\|likely pathogenic	16	56497760	56497760	Human	2	alternate_id
13788428	CV548489	single nucleotide variant	NM_031885.5(BBS2):c.1885G>A (p.Glu629Lys)	BBS2-related disorder [RCV004544927]\|Bardet-Biedl syndrome 2 [RCV000665367]\|Bardet-Biedl syndrome [RCV001037054]\|not specified [RCV002271550]	uncertain significance	16	56496992	56496992	Human	2	alternate_id
13787051	CV548500	single nucleotide variant	NM_031885.5(BBS2):c.1046T>G (p.Leu349Trp)	BBS2-related disorder [RCV004533462]\|Bardet-Biedl syndrome 2 [RCV000664617]\|Bardet-Biedl syndrome 2 [RCV002485519]	uncertain significance	16	56502351	56502351	Human	1	alternate_id
26915013	CV844003	single nucleotide variant	NM_031885.5(BBS2):c.1982G>A (p.Arg661His)	BBS2-related disorder [RCV004528349]\|Bardet-Biedl syndrome 2 [RCV001273904]\|Bardet-Biedl syndrome [RCV001041070]\|Inborn genetic diseases [RCV005306228]	uncertain significance	16	56485667	56485667	Human	3	alternate_id
26923616	CV844004	single nucleotide variant	NM_031885.5(BBS2):c.1927C>T (p.Arg643Cys)	BBS2-related disorder [RCV004536126]\|Bardet-Biedl syndrome 2 [RCV001827414]\|Bardet-Biedl syndrome 2 [RCV002482080]\|Bardet-Biedl syndrome [RCV001064314]\|Inborn genetic diseases [RCV002554462]	uncertain significance	16	56485722	56485722	Human	3	alternate_id
26909910	CV844006	single nucleotide variant	NM_031885.5(BBS2):c.1759C>T (p.Pro587Ser)	BBS2-related disorder [RCV004528347]\|Bardet-Biedl syndrome 2 [RCV001832390]\|Bardet-Biedl syndrome [RCV001038584]	uncertain significance	16	56497781	56497781	Human	2	alternate_id
26917261	CV844007	single nucleotide variant	NM_031885.5(BBS2):c.1666A>G (p.Ile556Val)	BBS2-related disorder [RCV004733134]\|Bardet-Biedl syndrome 2 [RCV001273907]\|Bardet-Biedl syndrome 2 [RCV005021389]\|Bardet-Biedl syndrome [RCV001056886]\|Inborn genetic diseases [RCV003160457]	likely benign\|uncertain significance	16	56497874	56497874	Human	3	alternate_id
26891090	CV844008	single nucleotide variant	NM_031885.5(BBS2):c.1624G>T (p.Gly542Cys)	BBS2-related disorder [RCV004733121]\|Bardet-Biedl syndrome 2 [RCV001827288]\|Bardet-Biedl syndrome 2 [RCV002481924]\|Bardet-Biedl syndrome [RCV001046291]	uncertain significance	16	56498472	56498472	Human	2	alternate_id
26906905	CV844010	single nucleotide variant	NM_031885.5(BBS2):c.1543G>A (p.Gly515Ser)	BBS2-related disorder [RCV004536068]\|Bardet-Biedl syndrome 2 [RCV001273908]\|Bardet-Biedl syndrome 2 [RCV002481859]\|Bardet-Biedl syndrome [RCV001037692]\|Retinal dystrophy [RCV004818198]	uncertain significance	16	56498553	56498553	Human	4	alternate_id
26893068	CV844013	single nucleotide variant	NM_031885.5(BBS2):c.1454C>T (p.Ala485Val)	BBS2-related disorder [RCV004528371]\|Bardet-Biedl syndrome 2 [RCV001828512]\|Bardet-Biedl syndrome 2 [RCV005021418]\|Bardet-Biedl syndrome [RCV001068934]	uncertain significance	16	56499851	56499851	Human	2	alternate_id
28893516	CV875521	single nucleotide variant	NM_031885.5(BBS2):c.1895G>A (p.Arg632His)	BBS2-related disorder [RCV004528388]\|Bardet-Biedl syndrome 2 [RCV001121738]\|Bardet-Biedl syndrome 2 [RCV002480494]\|Bardet-Biedl syndrome [RCV002558204]\|Retinal dystrophy [RCV004813786]	uncertain significance	16	56496982	56496982	Human	4	alternate_id
38492011	CV927861	single nucleotide variant	NM_031885.5(BBS2):c.1999G>C (p.Glu667Gln)	BBS2-related disorder [RCV004538470]\|Bardet-Biedl syndrome 2 [RCV001828779]\|Bardet-Biedl syndrome [RCV001223250]\|Inborn genetic diseases [RCV002563034]	uncertain significance	16	56485650	56485650	Human	3	alternate_id
38484404	CV927863	single nucleotide variant	NM_031885.5(BBS2):c.1516C>T (p.Arg506Trp)	BBS2-related disorder [RCV004733183]\|Bardet-Biedl syndrome 2 [RCV001833904]\|Bardet-Biedl syndrome 2 [RCV002484191]\|Bardet-Biedl syndrome [RCV001219394]	uncertain significance	16	56499789	56499789	Human	2	alternate_id
38487313	CV927864	single nucleotide variant	NM_031885.5(BBS2):c.1120C>T (p.Arg374Trp)	BBS2-related disorder [RCV004733187]\|Bardet-Biedl syndrome 2 [RCV001836166]\|Bardet-Biedl syndrome 2 [RCV002484202]\|Bardet-Biedl syndrome [RCV001220679]\|Retinal dystrophy [RCV003887918]	uncertain significance	16	56501458	56501458	Human	4	alternate_id
38483275	CV937494	single nucleotide variant	NM_031885.5(BBS2):c.1852T>G (p.Ser618Ala)	BBS2-related disorder [RCV004733176]\|Bardet-Biedl syndrome [RCV001207583]	uncertain significance	16	56497025	56497025	Human	2	alternate_id
38481695	CV937495	single nucleotide variant	NM_031885.5(BBS2):c.1223A>G (p.Asn408Ser)	BBS2-related disorder [RCV004538445]\|Bardet-Biedl syndrome 2 [RCV001836139]\|Bardet-Biedl syndrome 2 [RCV002497710]\|Bardet-Biedl syndrome [RCV001206888]	uncertain significance	16	56501355	56501355	Human	2	alternate_id
38472488	CV937496	single nucleotide variant	NM_031885.5(BBS2):c.1208G>C (p.Arg403Pro)	BBS2-related disorder [RCV004733174]\|Bardet-Biedl syndrome [RCV001203189]	uncertain significance	16	56501370	56501370	Human	2	alternate_id
38461674	CV949442	single nucleotide variant	NM_031885.5(BBS2):c.2056C>T (p.Arg686Trp)	BBS2-related disorder [RCV004538481]\|Bardet-Biedl syndrome 2 [RCV001828836]\|Bardet-Biedl syndrome 2 [RCV002484252]\|Bardet-Biedl syndrome [RCV001229581]	uncertain significance	16	56485593	56485593	Human	2	alternate_id
38492548	CV957809	single nucleotide variant	NM_031885.5(BBS2):c.1808A>G (p.Tyr603Cys)	BBS2-related disorder [RCV004733202]\|Bardet-Biedl syndrome 2 [RCV001828946]\|Bardet-Biedl syndrome 2 [RCV002491790]\|Bardet-Biedl syndrome [RCV001240149]	uncertain significance	16	56497069	56497069	Human	2	alternate_id
38493628	CV957811	single nucleotide variant	NM_031885.5(BBS2):c.1157C>T (p.Thr386Met)	BBS2-related disorder [RCV004538502]\|Bardet-Biedl syndrome 2 [RCV001277877]\|Bardet-Biedl syndrome 2 [RCV002484320]\|Bardet-Biedl syndrome [RCV001240795]	likely benign\|uncertain significance	16	56501421	56501421	Human	2	alternate_id
126738674	CV996994	single nucleotide variant	NM_031885.5(BBS2):c.1517G>A (p.Arg506Gln)	BBS2-related disorder [RCV004733234]\|Bardet-Biedl syndrome 2 [RCV001835391]\|Bardet-Biedl syndrome [RCV001295512]	uncertain significance	16	56499788	56499788	Human	2	alternate_id
126757694	CV996995	single nucleotide variant	NM_031885.5(BBS2):c.1240G>A (p.Ala414Thr)	BBS2-related disorder [RCV004733238]\|Bardet-Biedl syndrome 2 [RCV001835419]\|Bardet-Biedl syndrome 2 [RCV005014356]\|Bardet-Biedl syndrome [RCV001298962]	uncertain significance	16	56501011	56501011	Human	2	alternate_id
405069262	CV3025361	indel	NM_031885.5(BBS2):c.1397+6_1397+10delinsTAAAG	Bardet-Biedl syndrome [RCV003633009]	uncertain significance	16	56500844	56500848	Human		name
597750247	CV3705074	single nucleotide variant	NM_031885.5(BBS2):c.719C>G (p.Ser240Trp)	Bardet-Biedl syndrome 2 [RCV005015636]	uncertain significance	16	56506035	56506035	Human	1	name

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