Bbs10 Variant Search Result - Rat Genome Database

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995 records found for search term Bbs10

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8556125	CV16369	variation	BBS10, SER303 FS	Bardet-biedl syndrome 1/10, digenic [RCV000001393]	pathogenic				Human		name
11652453	CV326694	single nucleotide variant	NM_024685.4(BBS10):c.-4A>G	Bardet-Biedl syndrome 10 [RCV000305215]	uncertain significance	12	76348362	76348362	Human	1	name
408382854	CV3506010	single nucleotide variant	NM_024685.4(BBS10):c.-8G>T	BBS10-related disorder [RCV004730152]	likely benign	12	76348366	76348366	Human		name , trait , alternate_id
408370188	CV3508140	deletion	NM_024685.4(BBS10):c.*8del	BBS10-related disorder [RCV004739081]	likely benign	12	76345805	76345805	Human		name , trait , alternate_id
408370523	CV3511409	single nucleotide variant	NM_024685.4(BBS10):c.-6C>T	BBS10-related disorder [RCV004739884]	likely benign	12	76348364	76348364	Human		name , trait , alternate_id
408371341	CV3515714	single nucleotide variant	NM_024685.4(BBS10):c.-5C>T	BBS10-related disorder [RCV004740784]	likely benign	12	76348363	76348363	Human		name , trait , alternate_id
11612081	CV318510	single nucleotide variant	NM_024685.4(BBS10):c.-52C>T	Bardet-Biedl syndrome 10 [RCV000403782]\|not provided [RCV001683248]	benign\|likely benign	12	76348410	76348410	Human	1	name
11651863	CV318511	single nucleotide variant	NM_024685.3(BBS10):c.-66C>T	Bardet-Biedl syndrome [RCV000301553]	uncertain significance	12	76348424	76348424	Human	1	name
11625844	CV332909	single nucleotide variant	NM_024685.4(BBS10):c.*87A>C	Bardet-Biedl syndrome 10 [RCV000403897]\|not provided [RCV004708301]	benign\|uncertain significance	12	76345726	76345726	Human	1	name
11622394	CV334590	single nucleotide variant	NM_024685.4(BBS10):c.-48C>G	Bardet-Biedl syndrome 10 [RCV000359926]	uncertain significance	12	76348406	76348406	Human	1	name
11622098	CV334596	single nucleotide variant	NM_024685.3(BBS10):c.-71C>T	Bardet-Biedl syndrome [RCV000356398]\|not provided [RCV004693134]	uncertain significance	12	76348429	76348429	Human	1	name
28867290	CV870461	single nucleotide variant	NM_024685.4(BBS10):c.*48G>C	Bardet-Biedl syndrome 10 [RCV001111718]	uncertain significance	12	76345765	76345765	Human	1	name
11649997	CV318504	single nucleotide variant	NM_024685.4(BBS10):c.*930A>G	Bardet-Biedl syndrome 10 [RCV000290657]	uncertain significance	12	76344883	76344883	Human	1	name
11602869	CV318505	single nucleotide variant	NM_024685.4(BBS10):c.*773T>C	Bardet-Biedl syndrome 10 [RCV000294812]	uncertain significance	12	76345040	76345040	Human	1	name
11612144	CV318506	single nucleotide variant	NM_024685.4(BBS10):c.*177T>G	Bardet-Biedl syndrome [RCV000404695]	uncertain significance	12	76345636	76345636	Human	1	name
11651868	CV318508	single nucleotide variant	NM_024685.4(BBS10):c.*119G>A	Bardet-Biedl syndrome 10 [RCV000301578]	uncertain significance	12	76345694	76345694	Human	1	name
11624159	CV326684	single nucleotide variant	NM_024685.4(BBS10):c.*955T>C	Bardet-Biedl syndrome 10 [RCV000382701]	uncertain significance	12	76344858	76344858	Human	1	name
11624482	CV332898	single nucleotide variant	NM_024685.4(BBS10):c.*805T>C	Bardet-Biedl syndrome 10 [RCV000386767]\|not provided [RCV004707039]	benign\|likely benign	12	76345008	76345008	Human	1	name
11621733	CV332900	single nucleotide variant	NM_024685.4(BBS10):c.*769G>C	Bardet-Biedl syndrome 10 [RCV000352076]\|not provided [RCV004708300]	benign	12	76345044	76345044	Human	1	name
11658278	CV334567	single nucleotide variant	NM_024685.4(BBS10):c.*891T>C	Bardet-Biedl syndrome 10 [RCV000347892]	uncertain significance	12	76344922	76344922	Human	1	name
11616792	CV334569	single nucleotide variant	NM_024685.4(BBS10):c.*632T>C	Bardet-Biedl syndrome 10 [RCV000298131]	benign\|likely benign	12	76345181	76345181	Human	1	name
11620405	CV334570	single nucleotide variant	NM_024685.4(BBS10):c.*498A>G	Bardet-Biedl syndrome 10 [RCV000336681]\|not provided [RCV004707040]	benign\|likely benign	12	76345315	76345315	Human	1	name
11659552	CV334573	single nucleotide variant	NM_024685.4(BBS10):c.*106C>T	Bardet-Biedl syndrome 10 [RCV000359183]\|not provided [RCV004693133]	uncertain significance	12	76345707	76345707	Human	1	name
405870714	CV3401540	single nucleotide variant	NM_024685.3(BBS10):c.-151T>C	Bardet-Biedl syndrome 10 [RCV004577998]	uncertain significance	12	76348509	76348509	Human	1	name
28873500	CV870457	single nucleotide variant	NM_024685.4(BBS10):c.*947G>T	Bardet-Biedl syndrome 10 [RCV001115040]	uncertain significance	12	76344866	76344866	Human	1	name
28910702	CV870458	single nucleotide variant	NM_024685.4(BBS10):c.*734G>T	Bardet-Biedl syndrome 10 [RCV001109397]	uncertain significance	12	76345079	76345079	Human	1	name
28910703	CV870459	single nucleotide variant	NM_024685.4(BBS10):c.*529C>T	Bardet-Biedl syndrome 10 [RCV001109398]	uncertain significance	12	76345284	76345284	Human	1	name
28910706	CV870460	single nucleotide variant	NM_024685.4(BBS10):c.*264A>T	Bardet-Biedl syndrome 10 [RCV001109399]	uncertain significance	12	76345549	76345549	Human	1	name
127238622	CV1101423	single nucleotide variant	NM_024685.4(BBS10):c.198-6G>A	Bardet-Biedl syndrome [RCV001433817]	likely benign	12	76347793	76347793	Human	1	name
127293447	CV1122909	single nucleotide variant	NM_024685.4(BBS10):c.198-4A>G	Bardet-Biedl syndrome [RCV001476596]	likely benign	12	76347791	76347791	Human	1	name
127292127	CV1122910	single nucleotide variant	NM_024685.4(BBS10):c.198-7T>C	Bardet-Biedl syndrome [RCV001476244]	likely benign	12	76347794	76347794	Human	1	name
127318416	CV1122911	single nucleotide variant	NM_024685.4(BBS10):c.198-9T>G	Bardet-Biedl syndrome [RCV001466190]	likely benign	12	76347796	76347796	Human	1	name
151802502	CV1352054	single nucleotide variant	NM_024685.4(BBS10):c.197+5C>T	BBS10-related disorder [RCV003913486]\|Bardet-Biedl syndrome 10 [RCV005002772]\|Bardet-Biedl syndrome [RCV002048110]	likely benign\|uncertain significance	12	76348157	76348157	Human	2	name , trait , alternate_id
151868449	CV1426037	single nucleotide variant	NM_024685.4(BBS10):c.197+1G>A	Bardet-Biedl syndrome [RCV002035349]	pathogenic	12	76348161	76348161	Human	1	name
11632683	CV268121	single nucleotide variant	NM_024685.4(BBS10):c.197+1G>T	Bardet-Biedl syndrome 10 [RCV000984152]\|Bardet-Biedl syndrome [RCV001859589]\|not provided [RCV000276223]	pathogenic\|likely pathogenic	12	76348161	76348161	Human	2	name
405091234	CV2989401	deletion	NM_024685.4(BBS10):c.198-7del	Bardet-Biedl syndrome [RCV003634846]	benign	12	76347794	76347794	Human	1	name
405092983	CV2999301	single nucleotide variant	NM_024685.4(BBS10):c.198-8T>C	Bardet-Biedl syndrome [RCV003635023]	likely benign	12	76347795	76347795	Human	1	name
11598944	CV318501	single nucleotide variant	NM_024685.4(BBS10):c.*1250A>G	Bardet-Biedl syndrome 10 [RCV000261301]	uncertain significance	12	76344563	76344563	Human	1	name
11605932	CV318502	single nucleotide variant	NM_024685.4(BBS10):c.*1051C>T	Bardet-Biedl syndrome 10 [RCV000325695]\|not provided [RCV004707038]	benign	12	76344762	76344762	Human	1	name
11658983	CV326670	single nucleotide variant	NM_024685.4(BBS10):c.*1275A>C	Bardet-Biedl syndrome 10 [RCV000353803]	uncertain significance	12	76344538	76344538	Human	1	name
11617035	CV326679	single nucleotide variant	NM_024685.4(BBS10):c.*1248A>G	Bardet-Biedl syndrome 10 [RCV000300160]	benign\|uncertain significance	12	76344565	76344565	Human	1	name
11654947	CV326682	duplication	NM_024685.4(BBS10):c.*1189dup	Bardet-Biedl syndrome [RCV000322093]	uncertain significance	12	76344623	76344624	Human	1	name
11618625	CV332885	single nucleotide variant	NM_024685.4(BBS10):c.*1325T>C	Bardet-Biedl syndrome 10 [RCV000315515]	uncertain significance	12	76344488	76344488	Human	1	name
11645258	CV332890	single nucleotide variant	NM_024685.4(BBS10):c.*1204T>A	Bardet-Biedl syndrome 10 [RCV000264655]	uncertain significance	12	76344609	76344609	Human	1	name
11661702	CV332893	single nucleotide variant	NM_024685.4(BBS10):c.*1145A>C	Bardet-Biedl syndrome 10 [RCV000378993]	uncertain significance	12	76344668	76344668	Human	1	name
11645923	CV332894	single nucleotide variant	NM_024685.4(BBS10):c.*1140A>G	Bardet-Biedl syndrome 10 [RCV000268118]	uncertain significance	12	76344673	76344673	Human	1	name
11648949	CV334589	single nucleotide variant	NM_024685.4(BBS10):c.197+4C>T	Bardet-Biedl syndrome 10 [RCV000284795]	uncertain significance	12	76348158	76348158	Human	1	name
408375941	CV3506604	single nucleotide variant	NM_024685.4(BBS10):c.197+3A>G	BBS10-related disorder [RCV004726395]	uncertain significance	12	76348159	76348159	Human		name , trait , alternate_id
13783883	CV546881	single nucleotide variant	NM_024685.4(BBS10):c.198-1G>C	Bardet-Biedl syndrome 10 [RCV000672600]	likely pathogenic	12	76347788	76347788	Human	1	name
15161510	CV690052	single nucleotide variant	NM_024685.4(BBS10):c.197+7G>T	Bardet-Biedl syndrome [RCV001429089]	likely benign	12	76348155	76348155	Human	1	name
28867852	CV870453	single nucleotide variant	NM_024685.4(BBS10):c.*1197A>G	Bardet-Biedl syndrome 10 [RCV001112092]	uncertain significance	12	76344616	76344616	Human	1	name
28867855	CV870454	single nucleotide variant	NM_024685.4(BBS10):c.*1164A>G	Bardet-Biedl syndrome 10 [RCV001112093]	uncertain significance	12	76344649	76344649	Human	1	name
28867856	CV870455	single nucleotide variant	NM_024685.4(BBS10):c.*1113G>C	Bardet-Biedl syndrome 10 [RCV001112094]	uncertain significance	12	76344700	76344700	Human	1	name
28873498	CV870456	single nucleotide variant	NM_024685.4(BBS10):c.*1041G>T	Bardet-Biedl syndrome 10 [RCV001115039]	uncertain significance	12	76344772	76344772	Human	1	name
38464093	CV960792	single nucleotide variant	NM_024685.4(BBS10):c.198-3C>T	BBS10-related disorder [RCV004740632]\|Bardet-Biedl syndrome 10 [RCV001830011]\|Bardet-Biedl syndrome [RCV001247343]\|Inborn genetic diseases [RCV002564121]	likely benign\|uncertain significance	12	76347790	76347790	Human	3	name , trait , alternate_id
127251345	CV1101424	single nucleotide variant	NM_024685.4(BBS10):c.197+11C>A	Bardet-Biedl syndrome [RCV001425558]	likely benign	12	76348151	76348151	Human	1	name
127322303	CV1157051	duplication	NM_024685.4(BBS10):c.198-12dup	Bardet-Biedl syndrome [RCV001523472]	benign	12	76347793	76347794	Human	1	name
152125895	CV1554150	single nucleotide variant	NM_024685.4(BBS10):c.198-19T>A	Bardet-Biedl syndrome [RCV002098815]	likely benign	12	76347806	76347806	Human	1	name
152156257	CV1585965	single nucleotide variant	NM_024685.4(BBS10):c.198-12T>G	Bardet-Biedl syndrome [RCV002140216]	likely benign	12	76347799	76347799	Human	1	name
152047230	CV1656726	single nucleotide variant	NM_024685.4(BBS10):c.197+13C>G	Bardet-Biedl syndrome 10 [RCV002507994]\|Bardet-Biedl syndrome [RCV002126789]	likely benign	12	76348149	76348149	Human	2	name
156404857	CV1919068	single nucleotide variant	NM_024685.4(BBS10):c.198-18T>G	Bardet-Biedl syndrome [RCV002585514]	likely benign	12	76347805	76347805	Human	1	name
156441913	CV1941569	single nucleotide variant	NM_024685.4(BBS10):c.198-19T>G	Bardet-Biedl syndrome [RCV003112247]	likely benign	12	76347806	76347806	Human	1	name
156058600	CV2024070	single nucleotide variant	NM_024685.4(BBS10):c.197+18G>A	Bardet-Biedl syndrome [RCV002736754]	likely benign	12	76348144	76348144	Human	1	name
405094740	CV3008413	single nucleotide variant	NM_024685.4(BBS10):c.198-17A>G	Bardet-Biedl syndrome [RCV003635189]	likely benign	12	76347804	76347804	Human	1	name
405081703	CV3061445	single nucleotide variant	NM_024685.4(BBS10):c.197+20T>A	Bardet-Biedl syndrome [RCV003634070]	likely benign	12	76348142	76348142	Human	1	name
11663041	CV332901	microsatellite	NM_024685.4(BBS10):c.*641AT[2]	Bardet-Biedl syndrome [RCV000391831]	uncertain significance	12	76345167	76345168	Human		name
11624842	CV334588	single nucleotide variant	NM_024685.4(BBS10):c.198-10T>C	Bardet-Biedl syndrome 10 [RCV001094136]\|Bardet-Biedl syndrome [RCV000391618]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	76347797	76347797	Human	2	name
597904613	CV3839476	single nucleotide variant	NM_024685.4(BBS10):c.198-15T>C	Bardet-Biedl syndrome [RCV005179368]	likely benign	12	76347802	76347802	Human	1	name
150334484	CV1172486	single nucleotide variant	NM_024685.4(BBS10):c.198-162G>A	not provided [RCV001540072]	benign	12	76347949	76347949	Human		name
127302362	CV1143769	single nucleotide variant	NM_024685.4(BBS10):c.6A>G (p.Leu2=)	Bardet-Biedl syndrome 10 [RCV002501719]\|Bardet-Biedl syndrome [RCV001499067]	likely benign	12	76348353	76348353	Human	2	name
11659381	CV334566	deletion	NM_024685.4(BBS10):c.1241_1244del	Bardet-Biedl syndrome [RCV000357417]	uncertain significance	12	76344569	76344572	Human	1	name
127233993	CV1101427	single nucleotide variant	NM_024685.4(BBS10):c.27G>T (p.Gly9=)	Bardet-Biedl syndrome 10 [RCV002476748]\|Bardet-Biedl syndrome [RCV001421920]	likely benign	12	76348332	76348332	Human	2	name
155968331	CV2066173	single nucleotide variant	NM_024685.4(BBS10):c.27G>C (p.Gly9=)	Bardet-Biedl syndrome [RCV002841957]	likely benign	12	76348332	76348332	Human	1	name
405092907	CV3002460	single nucleotide variant	NM_024685.4(BBS10):c.12T>C (p.Ser4=)	Bardet-Biedl syndrome [RCV003635015]	likely benign	12	76348347	76348347	Human	1	name
127278025	CV1101426	single nucleotide variant	NM_024685.4(BBS10):c.69C>T (p.Ala23=)	Bardet-Biedl syndrome [RCV001444739]	likely benign	12	76348290	76348290	Human	1	name
151741230	CV1392402	single nucleotide variant	NM_024685.4(BBS10):c.7A>C (p.Ser3Arg)	BBS10-related disorder [RCV004741118]\|Bardet-Biedl syndrome [RCV001871040]	uncertain significance	12	76348352	76348352	Human	2	name , trait , alternate_id
151728948	CV1505302	single nucleotide variant	NM_024685.4(BBS10):c.1A>G (p.Met1Val)	BBS10-related disorder [RCV003402063]\|Bardet-Biedl syndrome 10 [RCV002492377]\|Bardet-Biedl syndrome [RCV002021092]	uncertain significance	12	76348358	76348358	Human	2	name , trait , alternate_id
152056029	CV1522971	deletion	NM_024685.4(BBS10):c.198-17_198-14del	Bardet-Biedl syndrome [RCV002167443]	likely benign	12	76347801	76347804	Human	1	name
152165678	CV1556947	single nucleotide variant	NM_024685.4(BBS10):c.54C>A (p.Ala18=)	Bardet-Biedl syndrome [RCV002181785]	likely benign	12	76348305	76348305	Human	1	name
152031770	CV1629238	single nucleotide variant	NM_024685.4(BBS10):c.72C>T (p.Ile24=)	Bardet-Biedl syndrome [RCV002106230]	likely benign	12	76348287	76348287	Human	1	name
152125794	CV1630302	single nucleotide variant	NM_024685.4(BBS10):c.36G>A (p.Lys12=)	Bardet-Biedl syndrome [RCV002154854]	likely benign	12	76348323	76348323	Human	1	name
155942446	CV1910408	single nucleotide variant	NM_024685.4(BBS10):c.93C>T (p.Pro31=)	BBS10-related disorder [RCV004741409]\|Bardet-Biedl syndrome [RCV002615726]	likely benign	12	76348266	76348266	Human	2	name , trait , alternate_id
156011756	CV2075666	single nucleotide variant	NM_024685.4(BBS10):c.60G>C (p.Val20=)	Bardet-Biedl syndrome [RCV002843911]	likely benign	12	76348299	76348299	Human	1	name
156367695	CV2160084	single nucleotide variant	NM_024685.4(BBS10):c.60G>T (p.Val20=)	Bardet-Biedl syndrome [RCV003031997]	likely benign	12	76348299	76348299	Human	1	name
11548695	CV254725	single nucleotide variant	NM_024685.4(BBS10):c.63G>A (p.Leu21=)	Bardet-Biedl syndrome [RCV001499659]\|not specified [RCV000249426]	likely benign	12	76348296	76348296	Human	1	name
11624841	CV332915	single nucleotide variant	NM_024685.4(BBS10):c.42G>A (p.Ala14=)	BBS10-related disorder [RCV003910149]\|Bardet-Biedl syndrome [RCV000391611]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	76348317	76348317	Human	2	name , trait , alternate_id
597841715	CV3780200	single nucleotide variant	NM_024685.4(BBS10):c.5T>G (p.Leu2Ter)	Bardet-Biedl syndrome [RCV005116520]	pathogenic	12	76348354	76348354	Human	1	name
13523766	CV493542	single nucleotide variant	NM_024685.4(BBS10):c.2T>C (p.Met1Thr)	Bardet-Biedl syndrome 10 [RCV000674655]\|Bardet-Biedl syndrome [RCV002531100]\|not provided [RCV000593417]	uncertain significance	12	76348357	76348357	Human	2	name
127265620	CV1062718	duplication	NM_024685.4(BBS10):c.35dup (p.Ala13fs)	Bardet-Biedl syndrome [RCV001388500]	pathogenic	12	76348323	76348324	Human	1	name
127243160	CV1079664	single nucleotide variant	NM_024685.4(BBS10):c.163C>T (p.Leu55=)	BBS10-related disorder [RCV003953764]\|Bardet-Biedl syndrome [RCV001416088]	likely benign	12	76348196	76348196	Human	2	name , trait , alternate_id
127264106	CV1079665	single nucleotide variant	NM_024685.4(BBS10):c.144C>T (p.Ser48=)	Bardet-Biedl syndrome [RCV001403160]	likely benign	12	76348215	76348215	Human	1	name
127259838	CV1101425	single nucleotide variant	NM_024685.4(BBS10):c.156C>T (p.Gly52=)	Bardet-Biedl syndrome [RCV001438425]	likely benign	12	76348203	76348203	Human	1	name
127303562	CV1122907	single nucleotide variant	NM_024685.4(BBS10):c.270T>C (p.Leu90=)	Bardet-Biedl syndrome [RCV001461962]	likely benign	12	76347715	76347715	Human	1	name
127329280	CV1122908	single nucleotide variant	NM_024685.4(BBS10):c.237A>G (p.Thr79=)	Bardet-Biedl syndrome [RCV001470094]	likely benign	12	76347748	76347748	Human	1	name
127305555	CV1122912	single nucleotide variant	NM_024685.4(BBS10):c.156C>A (p.Gly52=)	Bardet-Biedl syndrome [RCV001455283]	likely benign	12	76348203	76348203	Human	1	name
127292294	CV1122913	single nucleotide variant	NM_024685.4(BBS10):c.129C>A (p.Gly43=)	Bardet-Biedl syndrome [RCV001476281]	likely benign	12	76348230	76348230	Human	1	name
127295304	CV1122914	single nucleotide variant	NM_024685.4(BBS10):c.126T>G (p.Thr42=)	Bardet-Biedl syndrome [RCV001477065]	likely benign	12	76348233	76348233	Human	1	name
151753651	CV1471170	single nucleotide variant	NM_024685.4(BBS10):c.23C>G (p.Ala8Gly)	Bardet-Biedl syndrome [RCV001948401]	uncertain significance	12	76348336	76348336	Human	1	name
152073039	CV1522878	single nucleotide variant	NM_024685.4(BBS10):c.174A>G (p.Leu58=)	Bardet-Biedl syndrome [RCV002148344]	likely benign	12	76348185	76348185	Human	1	name
152067369	CV1529280	single nucleotide variant	NM_024685.4(BBS10):c.288A>G (p.Gly96=)	Bardet-Biedl syndrome [RCV002168848]	likely benign	12	76347697	76347697	Human	1	name
152056034	CV1588128	single nucleotide variant	NM_024685.4(BBS10):c.210C>T (p.Asp70=)	Bardet-Biedl syndrome [RCV002189973]	likely benign	12	76347775	76347775	Human	1	name
152091042	CV1594230	single nucleotide variant	NM_024685.4(BBS10):c.138T>C (p.Leu46=)	Bardet-Biedl syndrome [RCV002171825]	likely benign	12	76348221	76348221	Human	1	name
156289724	CV1881723	single nucleotide variant	NM_024685.4(BBS10):c.13A>G (p.Met5Val)	BBS10-related disorder [RCV003943748]\|Bardet-Biedl syndrome 10 [RCV005010959]\|Bardet-Biedl syndrome [RCV003061401]	uncertain significance	12	76348346	76348346	Human	2	name , trait , alternate_id
156404492	CV1883366	deletion	NM_024685.4(BBS10):c.2_5del (p.Met1fs)	Bardet-Biedl syndrome [RCV003069740]	uncertain significance	12	76348354	76348357	Human	1	name
156026075	CV1918756	single nucleotide variant	NM_024685.4(BBS10):c.252A>G (p.Lys84=)	Bardet-Biedl syndrome [RCV002636949]	likely benign	12	76347733	76347733	Human	1	name
156418873	CV1918885	single nucleotide variant	NM_024685.4(BBS10):c.264C>T (p.Ile88=)	Bardet-Biedl syndrome [RCV002612083]	likely benign	12	76347721	76347721	Human	1	name
156442276	CV1938504	single nucleotide variant	NM_024685.4(BBS10):c.168G>A (p.Glu56=)	Bardet-Biedl syndrome [RCV003112616]	likely benign	12	76348191	76348191	Human	1	name
156237333	CV2036703	single nucleotide variant	NM_024685.4(BBS10):c.22G>T (p.Ala8Ser)	Bardet-Biedl syndrome [RCV002805546]	uncertain significance	12	76348337	76348337	Human	1	name
156217705	CV2081841	single nucleotide variant	NM_024685.4(BBS10):c.178T>C (p.Leu60=)	Bardet-Biedl syndrome [RCV002894058]	likely benign	12	76348181	76348181	Human	1	name
156349084	CV2146880	single nucleotide variant	NM_024685.4(BBS10):c.273C>T (p.Cys91=)	Bardet-Biedl syndrome [RCV003030733]	likely benign	12	76347712	76347712	Human	1	name
156189906	CV2148691	single nucleotide variant	NM_024685.4(BBS10):c.147G>T (p.Arg49=)	BBS10-related disorder [RCV004725454]\|Bardet-Biedl syndrome [RCV003005967]	likely benign	12	76348212	76348212	Human	2	name , trait , alternate_id
404986759	CV2917456	single nucleotide variant	NM_024685.4(BBS10):c.246T>G (p.Gly82=)	Bardet-Biedl syndrome [RCV003524627]	likely benign	12	76347739	76347739	Human	1	name
405091320	CV2982701	single nucleotide variant	NM_024685.4(BBS10):c.198G>A (p.Arg66=)	Bardet-Biedl syndrome [RCV003634853]	likely benign	12	76347787	76347787	Human	1	name
405091570	CV2989849	single nucleotide variant	NM_024685.4(BBS10):c.105A>G (p.Gln35=)	Bardet-Biedl syndrome [RCV003634873]	likely benign	12	76348254	76348254	Human	1	name
405070768	CV3020206	single nucleotide variant	NM_024685.4(BBS10):c.264C>A (p.Ile88=)	Bardet-Biedl syndrome [RCV003633118]	likely benign	12	76347721	76347721	Human	1	name
405069545	CV3029010	single nucleotide variant	NM_024685.4(BBS10):c.171G>A (p.Ala57=)	Bardet-Biedl syndrome [RCV003633028]	likely benign	12	76348188	76348188	Human	1	name
405071087	CV3030815	single nucleotide variant	NM_024685.4(BBS10):c.162C>T (p.Leu54=)	Bardet-Biedl syndrome [RCV003633142]	likely benign	12	76348197	76348197	Human	1	name
405133097	CV3115275	single nucleotide variant	NM_024685.4(BBS10):c.135G>C (p.Val45=)	Bardet-Biedl syndrome [RCV003816120]	likely benign	12	76348224	76348224	Human	1	name
405085956	CV3121951	single nucleotide variant	NM_024685.4(BBS10):c.165G>A (p.Leu55=)	Bardet-Biedl syndrome [RCV003810706]	likely benign	12	76348194	76348194	Human	1	name
402483954	CV3171217	single nucleotide variant	NM_024685.4(BBS10):c.171G>C (p.Ala57=)	Bardet-Biedl syndrome [RCV003876244]	likely benign	12	76348188	76348188	Human	1	name
408370079	CV3507851	single nucleotide variant	NM_024685.4(BBS10):c.26G>T (p.Gly9Val)	BBS10-related disorder [RCV004739047]	uncertain significance	12	76348333	76348333	Human		name , trait , alternate_id
408370736	CV3512823	single nucleotide variant	NM_024685.4(BBS10):c.282T>C (p.Leu94=)	BBS10-related disorder [RCV004740015]	likely benign	12	76347703	76347703	Human		name , trait , alternate_id
597843997	CV3752554	single nucleotide variant	NM_024685.4(BBS10):c.282T>A (p.Leu94=)	Bardet-Biedl syndrome [RCV005086960]	likely benign	12	76347703	76347703	Human	1	name
15099274	CV688055	single nucleotide variant	NM_024685.4(BBS10):c.102G>T (p.Arg34=)	BBS10-related disorder [RCV003948159]\|Bardet-Biedl syndrome 10 [RCV002487910]\|Bardet-Biedl syndrome [RCV000869872]	likely benign	12	76348257	76348257	Human	2	name , trait , alternate_id
15100606	CV753614	single nucleotide variant	NM_024685.4(BBS10):c.147G>A (p.Arg49=)	Bardet-Biedl syndrome 10 [RCV001111803]\|Bardet-Biedl syndrome [RCV000914637]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	76348212	76348212	Human	2	name
15108352	CV769311	single nucleotide variant	NM_024685.4(BBS10):c.132G>A (p.Glu44=)	not provided [RCV000938139]	likely benign	12	76348227	76348227	Human		name
28867415	CV870472	single nucleotide variant	NM_024685.4(BBS10):c.270T>G (p.Leu90=)	Bardet-Biedl syndrome 10 [RCV001111802]\|Bardet-Biedl syndrome [RCV001407940]	likely benign\|uncertain significance	12	76347715	76347715	Human	2	name
127230529	CV1079659	single nucleotide variant	NM_024685.4(BBS10):c.840A>G (p.Glu280=)	Bardet-Biedl syndrome [RCV001412499]	likely benign	12	76347145	76347145	Human	1	name
127254531	CV1079660	single nucleotide variant	NM_024685.4(BBS10):c.756T>C (p.Asp252=)	Bardet-Biedl syndrome [RCV001400824]	likely benign	12	76347229	76347229	Human	1	name
127237850	CV1079661	single nucleotide variant	NM_024685.4(BBS10):c.621G>A (p.Gly207=)	Bardet-Biedl syndrome [RCV001392382]	likely benign	12	76347364	76347364	Human	1	name
127249144	CV1079662	single nucleotide variant	NM_024685.4(BBS10):c.510A>G (p.Leu170=)	Bardet-Biedl syndrome [RCV001417272]	likely benign	12	76347475	76347475	Human	1	name
127262042	CV1079663	single nucleotide variant	NM_024685.4(BBS10):c.309A>G (p.Arg103=)	Bardet-Biedl syndrome [RCV001402550]	likely benign	12	76347676	76347676	Human	1	name
127254565	CV1101418	single nucleotide variant	NM_024685.4(BBS10):c.837A>G (p.Ser279=)	Bardet-Biedl syndrome [RCV001426330]	likely benign	12	76347148	76347148	Human	1	name
127264711	CV1101419	single nucleotide variant	NM_024685.4(BBS10):c.753A>G (p.Ala251=)	Bardet-Biedl syndrome [RCV001428913]	likely benign	12	76347232	76347232	Human	1	name
127275789	CV1101420	single nucleotide variant	NM_024685.4(BBS10):c.661T>C (p.Leu221=)	BBS10-related disorder [RCV004740692]\|Bardet-Biedl syndrome [RCV001443478]	likely benign	12	76347324	76347324	Human	2	name , trait , alternate_id
127281890	CV1101421	single nucleotide variant	NM_024685.4(BBS10):c.450T>C (p.Ser150=)	BBS10-related disorder [RCV004740693]\|Bardet-Biedl syndrome [RCV001447460]	likely benign	12	76347535	76347535	Human	2	name , trait , alternate_id
127279948	CV1101422	single nucleotide variant	NM_024685.4(BBS10):c.445C>T (p.Leu149=)	Bardet-Biedl syndrome [RCV001446108]	likely benign	12	76347540	76347540	Human	1	name
127335542	CV1122904	single nucleotide variant	NM_024685.4(BBS10):c.564A>G (p.Lys188=)	Bardet-Biedl syndrome [RCV001474355]	likely benign	12	76347421	76347421	Human	1	name
127292655	CV1122905	single nucleotide variant	NM_024685.4(BBS10):c.421T>C (p.Leu141=)	Bardet-Biedl syndrome [RCV001451802]	likely benign	12	76347564	76347564	Human	1	name
127304100	CV1122906	single nucleotide variant	NM_024685.4(BBS10):c.402A>G (p.Leu134=)	BBS10-related disorder [RCV004740699]\|Bardet-Biedl syndrome 10 [RCV002488264]\|Bardet-Biedl syndrome [RCV001462114]	likely benign	12	76347583	76347583	Human	2	name , trait , alternate_id
127318283	CV1143763	single nucleotide variant	NM_024685.4(BBS10):c.996G>A (p.Glu332=)	Bardet-Biedl syndrome [RCV001503631]	likely benign	12	76346989	76346989	Human	1	name
127337269	CV1143764	single nucleotide variant	NM_024685.4(BBS10):c.945A>G (p.Gln315=)	Bardet-Biedl syndrome [RCV001492755]	likely benign	12	76347040	76347040	Human	1	name
127287101	CV1143765	single nucleotide variant	NM_024685.4(BBS10):c.936T>C (p.Ser312=)	Bardet-Biedl syndrome [RCV001494735]	likely benign	12	76347049	76347049	Human	1	name
127337664	CV1143766	single nucleotide variant	NM_024685.4(BBS10):c.804T>C (p.Phe268=)	Bardet-Biedl syndrome [RCV001492972]	likely benign	12	76347181	76347181	Human	1	name
127324214	CV1143767	single nucleotide variant	NM_024685.4(BBS10):c.577T>C (p.Leu193=)	Bardet-Biedl syndrome [RCV001485430]	likely benign	12	76347408	76347408	Human	1	name
127296000	CV1143768	single nucleotide variant	NM_024685.4(BBS10):c.522A>G (p.Leu174=)	Bardet-Biedl syndrome [RCV001497381]	likely benign	12	76347463	76347463	Human	1	name
150450674	CV1200363	deletion	NM_024685.4(BBS10):c.235del (p.Thr79fs)	Bardet-Biedl syndrome 10 [RCV001580638]\|Bardet-Biedl syndrome [RCV001882698]	pathogenic\|likely pathogenic	12	76347750	76347750	Human	2	name
151353865	CV1327417	single nucleotide variant	NM_024685.4(BBS10):c.85G>T (p.Val29Leu)	BBS10-related disorder [RCV004741087]\|Bardet-Biedl syndrome 10 [RCV002482354]\|not specified [RCV001817361]	uncertain significance	12	76348274	76348274	Human	1	name , trait , alternate_id
151818376	CV1385733	single nucleotide variant	NM_024685.4(BBS10):c.94G>A (p.Glu32Lys)	Bardet-Biedl syndrome [RCV002013126]	uncertain significance	12	76348265	76348265	Human	1	name
151888125	CV1434446	deletion	NM_024685.4(BBS10):c.258del (p.Phe86fs)	Bardet-Biedl syndrome [RCV001887897]	pathogenic	12	76347727	76347727	Human	1	name
151740325	CV1477794	single nucleotide variant	NM_024685.4(BBS10):c.84C>A (p.Cys28Ter)	Bardet-Biedl syndrome 10 [RCV002479586]\|Bardet-Biedl syndrome [RCV001947039]	pathogenic\|likely pathogenic	12	76348275	76348275	Human	2	name
152148837	CV1528957	single nucleotide variant	NM_024685.4(BBS10):c.963T>C (p.Tyr321=)	Bardet-Biedl syndrome [RCV002101902]	likely benign	12	76347022	76347022	Human	1	name
152161460	CV1531130	single nucleotide variant	NM_024685.4(BBS10):c.903A>G (p.Leu301=)	Bardet-Biedl syndrome [RCV002123273]	likely benign	12	76347082	76347082	Human	1	name
152176042	CV1562203	single nucleotide variant	NM_024685.4(BBS10):c.876A>G (p.Glu292=)	Bardet-Biedl syndrome [RCV002164182]	likely benign	12	76347109	76347109	Human	1	name
152097084	CV1566173	single nucleotide variant	NM_024685.4(BBS10):c.630A>G (p.Val210=)	BBS10-related disorder [RCV004741221]\|Bardet-Biedl syndrome [RCV002094991]	likely benign	12	76347355	76347355	Human	2	name , trait , alternate_id
152090463	CV1581808	single nucleotide variant	NM_024685.4(BBS10):c.648C>T (p.Asp216=)	Bardet-Biedl syndrome 10 [RCV002507842]\|Bardet-Biedl syndrome [RCV002077638]	likely benign	12	76347337	76347337	Human	2	name
152087470	CV1594704	single nucleotide variant	NM_024685.4(BBS10):c.762C>T (p.Asp254=)	Bardet-Biedl syndrome [RCV002113599]	likely benign	12	76347223	76347223	Human	1	name
152099806	CV1595636	single nucleotide variant	NM_024685.4(BBS10):c.627T>A (p.Gly209=)	Bardet-Biedl syndrome [RCV002213852]	likely benign	12	76347358	76347358	Human	1	name
152079110	CV1596697	single nucleotide variant	NM_024685.4(BBS10):c.579G>A (p.Leu193=)	Bardet-Biedl syndrome [RCV002092612]	likely benign	12	76347406	76347406	Human	1	name
152086492	CV1599509	single nucleotide variant	NM_024685.4(BBS10):c.855A>T (p.Thr285=)	Bardet-Biedl syndrome [RCV002093557]	likely benign	12	76347130	76347130	Human	1	name
152109232	CV1604231	single nucleotide variant	NM_024685.4(BBS10):c.336C>T (p.Asn112=)	Bardet-Biedl syndrome [RCV002080020]	likely benign	12	76347649	76347649	Human	1	name
152122529	CV1613559	single nucleotide variant	NM_024685.4(BBS10):c.681C>T (p.Gly227=)	Bardet-Biedl syndrome [RCV002081752]	likely benign	12	76347304	76347304	Human	1	name
152108892	CV1623529	single nucleotide variant	NM_024685.4(BBS10):c.630A>T (p.Val210=)	BBS10-related disorder [RCV003893208]\|Bardet-Biedl syndrome [RCV002215203]	likely benign	12	76347355	76347355	Human	2	name , trait , alternate_id
152047620	CV1627417	single nucleotide variant	NM_024685.4(BBS10):c.750A>G (p.Pro250=)	Bardet-Biedl syndrome [RCV002108535]	likely benign	12	76347235	76347235	Human	1	name
8556123	CV16367	duplication	NM_024685.4(BBS10):c.271dup (p.Cys91fs)	BBS10-related disorder [RCV003407252]\|Bardet-Biedl syndrome 1 [RCV000709625]\|Bardet-Biedl syndrome 10 [RCV000001391]\|Bardet-Biedl syndrome [RCV000168127]\|Bardet-biedl syndrome 6/10, digenic [RCV000144680]\|Inborn genetic diseases [RCV000623309]\|Retinal dystrophy ... (more) [RCV001074512]\|Retinitis pigmentosa [RCV000504690]\|not provided [RCV000487323]	pathogenic\|not provided	12	76347713	76347714	Human	9	name , trait , alternate_id
8556127	CV16371	single nucleotide variant	NM_024685.4(BBS10):c.32T>G (p.Val11Gly)	Bardet-Biedl syndrome 10 [RCV000001395]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	12	76348327	76348327	Human	1	name
152134295	CV1638367	single nucleotide variant	NM_024685.4(BBS10):c.426C>T (p.Asp142=)	Bardet-Biedl syndrome [RCV002083292]	likely benign	12	76347559	76347559	Human	1	name
152044035	CV1643292	single nucleotide variant	NM_024685.4(BBS10):c.999T>C (p.Cys333=)	Bardet-Biedl syndrome [RCV002206713]	likely benign	12	76346986	76346986	Human	1	name
152066336	CV1646995	single nucleotide variant	NM_024685.4(BBS10):c.879G>A (p.Lys293=)	BBS10-related disorder [RCV004741247]\|Bardet-Biedl syndrome [RCV002129025]	likely benign	12	76347106	76347106	Human	2	name , trait , alternate_id
152055407	CV1648821	single nucleotide variant	NM_024685.4(BBS10):c.942A>G (p.Lys314=)	BBS10-related disorder [RCV004741204]\|Bardet-Biedl syndrome [RCV002072870]	likely benign	12	76347043	76347043	Human	2	name , trait , alternate_id
156056733	CV1874521	duplication	NM_024685.4(BBS10):c.180dup (p.Glu61fs)	Bardet-Biedl syndrome 10 [RCV003060000]\|Bardet-Biedl syndrome [RCV003037106]	pathogenic	12	76348178	76348179	Human	2	name
156407192	CV1874971	single nucleotide variant	NM_024685.4(BBS10):c.83G>C (p.Cys28Ser)	BBS10-related disorder [RCV004741378]\|Bardet-Biedl syndrome [RCV003070763]	uncertain significance	12	76348276	76348276	Human	2	name , trait , alternate_id
156360399	CV1908481	single nucleotide variant	NM_024685.4(BBS10):c.62T>C (p.Leu21Pro)	Bardet-Biedl syndrome [RCV002602454]	uncertain significance	12	76348297	76348297	Human	1	name
156307585	CV1931517	single nucleotide variant	NM_024685.4(BBS10):c.381A>G (p.Lys127=)	BBS10-related disorder [RCV004741420]\|Bardet-Biedl syndrome [RCV002647972]	likely benign	12	76347604	76347604	Human	2	name , trait , alternate_id
155963341	CV1931747	single nucleotide variant	NM_024685.4(BBS10):c.59T>C (p.Val20Ala)	Bardet-Biedl syndrome 10 [RCV005011058]\|Bardet-Biedl syndrome [RCV002616840]\|not provided [RCV005002968]	uncertain significance	12	76348300	76348300	Human	2	name
156446012	CV1951040	single nucleotide variant	NM_024685.4(BBS10):c.513G>A (p.Glu171=)	Bardet-Biedl syndrome [RCV003116975]	likely benign	12	76347472	76347472	Human	1	name
155999323	CV1987078	single nucleotide variant	NM_024685.4(BBS10):c.975G>A (p.Val325=)	Bardet-Biedl syndrome [RCV002618372]	likely benign	12	76347010	76347010	Human	1	name
156233286	CV1988117	single nucleotide variant	NM_024685.4(BBS10):c.687T>A (p.Pro229=)	BBS10-related disorder [RCV003898459]\|Bardet-Biedl syndrome [RCV002626873]	likely benign	12	76347298	76347298	Human	2	name , trait , alternate_id
156093414	CV2054596	single nucleotide variant	NM_024685.4(BBS10):c.738T>C (p.Ser246=)	Bardet-Biedl syndrome [RCV002824275]	likely benign	12	76347247	76347247	Human	1	name
156178214	CV2072152	single nucleotide variant	NM_024685.4(BBS10):c.477T>A (p.Ser159=)	Bardet-Biedl syndrome [RCV002851754]	likely benign	12	76347508	76347508	Human	1	name
156298369	CV2075734	single nucleotide variant	NM_024685.4(BBS10):c.951T>C (p.Asp317=)	Bardet-Biedl syndrome [RCV002857048]	likely benign	12	76347034	76347034	Human	1	name
155933541	CV2129325	single nucleotide variant	NM_024685.4(BBS10):c.91C>T (p.Pro31Ser)	Bardet-Biedl syndrome [RCV002970769]	uncertain significance	12	76348268	76348268	Human	1	name
156318059	CV2140498	single nucleotide variant	NM_024685.4(BBS10):c.927C>G (p.Leu309=)	Bardet-Biedl syndrome [RCV003011514]	likely benign	12	76347058	76347058	Human	1	name
156243033	CV2151256	single nucleotide variant	NM_024685.4(BBS10):c.390C>T (p.Ser130=)	Bardet-Biedl syndrome [RCV003026076]	likely benign	12	76347595	76347595	Human	1	name
11552469	CV254723	single nucleotide variant	NM_024685.4(BBS10):c.966T>C (p.Tyr322=)	Bardet-Biedl syndrome 10 [RCV001094078]\|Bardet-Biedl syndrome [RCV000296262]\|not specified [RCV000254420]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	76347019	76347019	Human	2	name
11544940	CV254724	single nucleotide variant	NM_024685.4(BBS10):c.474G>T (p.Ser158=)	Bardet-Biedl syndrome 10 [RCV002500921]\|Bardet-Biedl syndrome [RCV000861863]\|not specified [RCV000244468]	likely benign	12	76347511	76347511	Human	2	name
11642917	CV271903	single nucleotide variant	NM_024685.4(BBS10):c.483A>G (p.Lys161=)	BBS10-related disorder [RCV003949902]\|Bardet-Biedl syndrome 10 [RCV001833376]\|Bardet-Biedl syndrome [RCV001045375]\|not provided [RCV000383300]	likely benign\|uncertain significance	12	76347502	76347502	Human	2	name , trait , alternate_id
401905354	CV2796214	single nucleotide variant	NM_024685.4(BBS10):c.85G>A (p.Val29Met)	BBS10-related disorder [RCV003420822]	uncertain significance	12	76348274	76348274	Human		name , trait , alternate_id
401946510	CV2833701	deletion	NM_024685.4(BBS10):c.253del (p.Thr85fs)	Bardet-Biedl syndrome 10 [RCV003465036]\|Bardet-Biedl syndrome [RCV003523196]	pathogenic\|likely pathogenic	12	76347732	76347732	Human	2	name
405077444	CV2878539	single nucleotide variant	NM_024685.4(BBS10):c.711T>C (p.Ala237=)	Bardet-Biedl syndrome [RCV003524265]	likely benign	12	76347274	76347274	Human	1	name
405058776	CV2923486	single nucleotide variant	NM_024685.4(BBS10):c.600G>A (p.Lys200=)	Bardet-Biedl syndrome [RCV003522771]	likely benign	12	76347385	76347385	Human	1	name
405059215	CV2929896	single nucleotide variant	NM_024685.4(BBS10):c.813T>C (p.Ser271=)	Bardet-Biedl syndrome [RCV003522802]	likely benign	12	76347172	76347172	Human	1	name
405060278	CV2930465	single nucleotide variant	NM_024685.4(BBS10):c.702G>A (p.Arg234=)	Bardet-Biedl syndrome [RCV003522909]	likely benign	12	76347283	76347283	Human	1	name
405080173	CV2946724	single nucleotide variant	NM_024685.4(BBS10):c.684T>C (p.Leu228=)	Bardet-Biedl syndrome [RCV003633762]	likely benign	12	76347301	76347301	Human	1	name
405089471	CV2972699	single nucleotide variant	NM_024685.4(BBS10):c.597C>T (p.Phe199=)	Bardet-Biedl syndrome [RCV003634648]	likely benign	12	76347388	76347388	Human	1	name
405091301	CV2986436	duplication	NM_024685.4(BBS10):c.152dup (p.Gly52fs)	Bardet-Biedl syndrome [RCV003634851]	pathogenic	12	76348206	76348207	Human	1	name
405092884	CV3002253	single nucleotide variant	NM_024685.4(BBS10):c.801T>G (p.Leu267=)	Bardet-Biedl syndrome [RCV003635013]	likely benign	12	76347184	76347184	Human	1	name
405095979	CV3005234	single nucleotide variant	NM_024685.4(BBS10):c.414A>C (p.Thr138=)	Bardet-Biedl syndrome [RCV003635222]	likely benign	12	76347571	76347571	Human	1	name
405069966	CV3019313	single nucleotide variant	NM_024685.4(BBS10):c.534T>C (p.Phe178=)	Bardet-Biedl syndrome [RCV003633058]	likely benign	12	76347451	76347451	Human	1	name
405069706	CV3025773	single nucleotide variant	NM_024685.4(BBS10):c.843A>C (p.Ala281=)	Bardet-Biedl syndrome [RCV003633039]	likely benign	12	76347142	76347142	Human	1	name
405074558	CV3044058	single nucleotide variant	NM_024685.4(BBS10):c.663G>A (p.Leu221=)	Bardet-Biedl syndrome [RCV003633363]	likely benign	12	76347322	76347322	Human	1	name
405081039	CV3067353	single nucleotide variant	NM_024685.4(BBS10):c.816A>G (p.Gly272=)	Bardet-Biedl syndrome 10 [RCV005013145]\|Bardet-Biedl syndrome [RCV003634003]	likely benign\|uncertain significance	12	76347169	76347169	Human	2	name
405086650	CV3071117	single nucleotide variant	NM_024685.4(BBS10):c.912G>A (p.Gln304=)	BBS10-related disorder [RCV004738875]\|Bardet-Biedl syndrome [RCV003634268]	likely benign	12	76347073	76347073	Human	2	name , trait , alternate_id
405084159	CV3073748	single nucleotide variant	NM_024685.4(BBS10):c.933T>C (p.Ser311=)	Bardet-Biedl syndrome [RCV003634256]	likely benign	12	76347052	76347052	Human	1	name
405085265	CV3077660	single nucleotide variant	NM_024685.4(BBS10):c.969A>C (p.Ala323=)	Bardet-Biedl syndrome [RCV003634374]	likely benign	12	76347016	76347016	Human	1	name
405137813	CV3130714	single nucleotide variant	NM_024685.4(BBS10):c.315G>A (p.Lys105=)	BBS10-related disorder [RCV004738911]\|Bardet-Biedl syndrome [RCV003838948]	likely benign	12	76347670	76347670	Human	2	name , trait , alternate_id
11654262	CV326688	single nucleotide variant	NM_024685.4(BBS10):c.681C>G (p.Gly227=)	Bardet-Biedl syndrome 10 [RCV000316254]	uncertain significance	12	76347304	76347304	Human	1	name
11623466	CV326690	single nucleotide variant	NM_024685.4(BBS10):c.460T>C (p.Leu154=)	Bardet-Biedl syndrome 10 [RCV000373375]\|Bardet-Biedl syndrome [RCV001424219]	likely benign\|uncertain significance	12	76347525	76347525	Human	2	name
11614906	CV326693	single nucleotide variant	NM_024685.4(BBS10):c.393G>A (p.Gln131=)	BBS10-related disorder [RCV003897713]\|Bardet-Biedl syndrome 10 [RCV000281100]\|Bardet-Biedl syndrome [RCV002522254]	likely benign\|uncertain significance	12	76347592	76347592	Human	2	name , trait , alternate_id
405870445	CV3399853	duplication	NM_024685.4(BBS10):c.192dup (p.Ala65fs)	Bardet-Biedl syndrome 10 [RCV004574001]	likely pathogenic	12	76348166	76348167	Human	1	name
408370151	CV3507886	single nucleotide variant	NM_024685.4(BBS10):c.846G>A (p.Gln282=)	BBS10-related disorder [RCV004739049]	likely benign	12	76347139	76347139	Human		name , trait , alternate_id
408370245	CV3508474	single nucleotide variant	NM_024685.4(BBS10):c.981C>T (p.Gly327=)	BBS10-related disorder [RCV004739122]	likely benign	12	76347004	76347004	Human		name , trait , alternate_id
408370936	CV3514122	single nucleotide variant	NM_024685.4(BBS10):c.627T>C (p.Gly209=)	BBS10-related disorder [RCV004740142]	likely benign	12	76347358	76347358	Human		name , trait , alternate_id
408371052	CV3514570	single nucleotide variant	NM_024685.4(BBS10):c.858T>G (p.Ser286=)	BBS10-related disorder [RCV004740184]	likely benign	12	76347127	76347127	Human		name , trait , alternate_id
597867927	CV3790431	single nucleotide variant	NM_024685.4(BBS10):c.97G>A (p.Gly33Arg)	Bardet-Biedl syndrome [RCV005142854]	uncertain significance	12	76348262	76348262	Human	1	name
13501169	CV462732	single nucleotide variant	NM_024685.4(BBS10):c.55G>C (p.Glu19Gln)	Bardet-Biedl syndrome 10 [RCV001835850]\|Bardet-Biedl syndrome [RCV000540844]	uncertain significance	12	76348304	76348304	Human	2	name
13783857	CV547264	duplication	NM_024685.4(BBS10):c.235dup (p.Thr79fs)	Bardet-Biedl syndrome 10 [RCV000670255]\|Bardet-Biedl syndrome [RCV001175030]\|Retinal dystrophy [RCV001075500]\|not provided [RCV001093325]	pathogenic\|likely pathogenic	12	76347749	76347750	Human	4	name
13836685	CV587963	single nucleotide variant	NM_024685.4(BBS10):c.372T>A (p.Ser124=)	BBS10-related disorder [RCV003928244]\|Bardet-Biedl syndrome 10 [RCV001111801]\|Bardet-Biedl syndrome [RCV001085007]\|not provided [RCV000732874]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	76347613	76347613	Human	2	name , trait , alternate_id
15131714	CV684352	single nucleotide variant	NM_024685.4(BBS10):c.957T>C (p.Val319=)	BBS10-related disorder [RCV003938247]\|Bardet-Biedl syndrome 10 [RCV001830869]\|Bardet-Biedl syndrome [RCV000863667]\|not specified [RCV001816957]	likely benign	12	76347028	76347028	Human	2	name , trait , alternate_id
15131207	CV684353	single nucleotide variant	NM_024685.4(BBS10):c.375G>A (p.Arg125=)	Bardet-Biedl syndrome 10 [RCV001111800]\|Bardet-Biedl syndrome [RCV000863571]	likely benign\|uncertain significance	12	76347610	76347610	Human	2	name
15147911	CV688051	single nucleotide variant	NM_024685.4(BBS10):c.861A>G (p.Gln287=)	BBS10-related disorder [RCV004740468]\|Bardet-Biedl syndrome 10 [RCV002478969]\|Bardet-Biedl syndrome [RCV000866560]	likely benign	12	76347124	76347124	Human	2	name , trait , alternate_id
15159524	CV688052	single nucleotide variant	NM_024685.4(BBS10):c.783A>G (p.Thr261=)	BBS10-related disorder [RCV004740472]\|Bardet-Biedl syndrome 10 [RCV001272002]\|Bardet-Biedl syndrome [RCV000868842]	likely benign\|uncertain significance	12	76347202	76347202	Human	2	name , trait , alternate_id
15152226	CV688053	single nucleotide variant	NM_024685.4(BBS10):c.462G>A (p.Leu154=)	Bardet-Biedl syndrome 10 [RCV001109509]\|Bardet-Biedl syndrome [RCV000867399]	likely benign\|uncertain significance	12	76347523	76347523	Human	2	name
15098322	CV688054	single nucleotide variant	NM_024685.4(BBS10):c.429T>C (p.Gly143=)	BBS10-related disorder [RCV003908257]\|Bardet-Biedl syndrome 10 [RCV001825747]\|Bardet-Biedl syndrome [RCV000869675]	likely benign	12	76347556	76347556	Human	2	name , trait , alternate_id
15113460	CV693288	single nucleotide variant	NM_024685.4(BBS10):c.637T>C (p.Leu213=)	BBS10-related disorder [RCV003938319]\|Bardet-Biedl syndrome 10 [RCV002501323]\|Bardet-Biedl syndrome [RCV000872744]	likely benign	12	76347348	76347348	Human	2	name , trait , alternate_id
15107778	CV693289	single nucleotide variant	NM_024685.4(BBS10):c.474G>A (p.Ser158=)	Bardet-Biedl syndrome [RCV000871571]	likely benign	12	76347511	76347511	Human	1	name
15121089	CV693290	single nucleotide variant	NM_024685.4(BBS10):c.357T>C (p.His119=)	Bardet-Biedl syndrome [RCV002539177]	likely benign	12	76347628	76347628	Human	1	name
15137644	CV784474	single nucleotide variant	NM_024685.4(BBS10):c.858T>C (p.Ser286=)	Bardet-Biedl syndrome [RCV001493587]	likely benign	12	76347127	76347127	Human	1	name
28910827	CV870470	single nucleotide variant	NM_024685.4(BBS10):c.969A>G (p.Ala323=)	Bardet-Biedl syndrome 10 [RCV001109507]	uncertain significance	12	76347016	76347016	Human	1	name
38477736	CV936269	single nucleotide variant	NM_024685.4(BBS10):c.92C>T (p.Pro31Leu)	Bardet-Biedl syndrome [RCV001205221]	uncertain significance	12	76348267	76348267	Human	1	name
126770558	CV1010615	single nucleotide variant	NM_024685.4(BBS10):c.203T>C (p.Ile68Thr)	Bardet-Biedl syndrome [RCV001322645]	uncertain significance	12	76347782	76347782	Human	1	name
126741389	CV1010616	single nucleotide variant	NM_024685.4(BBS10):c.106G>T (p.Val36Phe)	Bardet-Biedl syndrome 10 [RCV001831001]\|Bardet-Biedl syndrome [RCV001325341]	uncertain significance	12	76348253	76348253	Human	2	name
126752012	CV1031124	single nucleotide variant	NM_024685.4(BBS10):c.2169A>G (p.Leu723=)	BBS10-related disorder [RCV004740670]\|Bardet-Biedl syndrome 10 [RCV001831047]\|Bardet-Biedl syndrome [RCV001338352]	likely benign\|uncertain significance	12	76345816	76345816	Human	2	name , trait , alternate_id
126745508	CV1031129	single nucleotide variant	NM_024685.4(BBS10):c.209A>G (p.Asp70Gly)	Bardet-Biedl syndrome 10 [RCV001830395]\|Bardet-Biedl syndrome [RCV001337218]	uncertain significance	12	76347776	76347776	Human	2	name
127255836	CV1079654	single nucleotide variant	NM_024685.4(BBS10):c.1438T>C (p.Leu480=)	Bardet-Biedl syndrome [RCV001401127]	likely benign	12	76346547	76346547	Human	1	name
127245541	CV1079655	single nucleotide variant	NM_024685.4(BBS10):c.1338T>C (p.Phe446=)	Bardet-Biedl syndrome [RCV001398739]	likely benign	12	76346647	76346647	Human	1	name
127249878	CV1079656	single nucleotide variant	NM_024685.4(BBS10):c.1188T>C (p.Ser396=)	BBS10-related disorder [RCV004740686]\|Bardet-Biedl syndrome [RCV001417423]	likely benign	12	76346797	76346797	Human	2	name , trait , alternate_id
127231793	CV1079657	single nucleotide variant	NM_024685.4(BBS10):c.1134C>T (p.Ser378=)	BBS10-related disorder [RCV003946037]\|Bardet-Biedl syndrome [RCV001395464]	likely benign	12	76346851	76346851	Human	2	name , trait , alternate_id
127230202	CV1079658	single nucleotide variant	NM_024685.4(BBS10):c.1092C>T (p.Asn364=)	Bardet-Biedl syndrome 10 [RCV001826188]\|Bardet-Biedl syndrome [RCV001394620]	likely benign	12	76346893	76346893	Human	2	name
127243010	CV1101407	single nucleotide variant	NM_024685.4(BBS10):c.2139A>G (p.Lys713=)	Bardet-Biedl syndrome [RCV001434749]	likely benign	12	76345846	76345846	Human	1	name
127271809	CV1101408	single nucleotide variant	NM_024685.4(BBS10):c.2055C>T (p.Tyr685=)	Bardet-Biedl syndrome [RCV001431107]	likely benign	12	76345930	76345930	Human	1	name
127238926	CV1101409	single nucleotide variant	NM_024685.4(BBS10):c.1695A>G (p.Thr565=)	Bardet-Biedl syndrome [RCV001423026]	likely benign	12	76346290	76346290	Human	1	name
127250891	CV1101410	single nucleotide variant	NM_024685.4(BBS10):c.1602T>G (p.Thr534=)	Bardet-Biedl syndrome 10 [RCV001826251]\|Bardet-Biedl syndrome [RCV001436462]	likely benign	12	76346383	76346383	Human	2	name
127282459	CV1101411	single nucleotide variant	NM_024685.4(BBS10):c.1515G>T (p.Pro505=)	Bardet-Biedl syndrome [RCV001447843]	likely benign	12	76346470	76346470	Human	1	name
127256954	CV1101412	single nucleotide variant	NM_024685.4(BBS10):c.1515G>A (p.Pro505=)	Bardet-Biedl syndrome [RCV001426949]	likely benign	12	76346470	76346470	Human	1	name
127250449	CV1101413	single nucleotide variant	NM_024685.4(BBS10):c.1197T>C (p.Leu399=)	Bardet-Biedl syndrome [RCV001425377]	likely benign	12	76346788	76346788	Human	1	name
127263542	CV1101414	single nucleotide variant	NM_024685.4(BBS10):c.1197T>A (p.Leu399=)	Bardet-Biedl syndrome [RCV001439318]	likely benign	12	76346788	76346788	Human	1	name
127256855	CV1101415	single nucleotide variant	NM_024685.4(BBS10):c.1125C>T (p.Ile375=)	Bardet-Biedl syndrome [RCV001437798]	likely benign	12	76346860	76346860	Human	1	name
127276120	CV1101416	single nucleotide variant	NM_024685.4(BBS10):c.1059A>G (p.Pro353=)	Bardet-Biedl syndrome [RCV001432632]	likely benign	12	76346926	76346926	Human	1	name
127240731	CV1101417	single nucleotide variant	NM_024685.4(BBS10):c.1026C>T (p.Ile342=)	Bardet-Biedl syndrome [RCV001434280]	likely benign	12	76346959	76346959	Human	1	name
127316481	CV1122891	single nucleotide variant	NM_024685.4(BBS10):c.2166A>G (p.Glu722=)	Bardet-Biedl syndrome [RCV001465553]	likely benign	12	76345819	76345819	Human	1	name
127333262	CV1122892	single nucleotide variant	NM_024685.4(BBS10):c.1923C>T (p.Pro641=)	BBS10-related disorder [RCV003938844]\|Bardet-Biedl syndrome 10 [RCV002495701]\|Bardet-Biedl syndrome [RCV001472781]	likely benign	12	76346062	76346062	Human	2	name , trait , alternate_id
127305530	CV1122893	single nucleotide variant	NM_024685.4(BBS10):c.1827G>A (p.Leu609=)	Bardet-Biedl syndrome [RCV001462505]	likely benign	12	76346158	76346158	Human	1	name
127304753	CV1122894	single nucleotide variant	NM_024685.4(BBS10):c.1806A>G (p.Val602=)	Bardet-Biedl syndrome [RCV001462336]	likely benign	12	76346179	76346179	Human	1	name
127337183	CV1122895	single nucleotide variant	NM_024685.4(BBS10):c.1677C>T (p.Tyr559=)	BBS10-related disorder [RCV003965957]\|Bardet-Biedl syndrome [RCV001475470]	likely benign	12	76346308	76346308	Human	2	name , trait , alternate_id
127325804	CV1122896	single nucleotide variant	NM_024685.4(BBS10):c.1593C>T (p.Asn531=)	Bardet-Biedl syndrome [RCV001468607]	likely benign	12	76346392	76346392	Human	1	name
127287574	CV1122897	single nucleotide variant	NM_024685.4(BBS10):c.1527C>G (p.Pro509=)	BBS10-related disorder [RCV004740694]\|Bardet-Biedl syndrome [RCV001450150]	likely benign	12	76346458	76346458	Human	2	name , trait , alternate_id
127322289	CV1122898	single nucleotide variant	NM_024685.4(BBS10):c.1494A>G (p.Val498=)	BBS10-related disorder [RCV004740701]\|Bardet-Biedl syndrome [RCV001467525]	likely benign	12	76346491	76346491	Human	2	name , trait , alternate_id
127302517	CV1122899	single nucleotide variant	NM_024685.4(BBS10):c.1477T>C (p.Leu493=)	Bardet-Biedl syndrome [RCV001461655]	likely benign	12	76346508	76346508	Human	1	name
127320423	CV1122900	single nucleotide variant	NM_024685.4(BBS10):c.1455A>T (p.Thr485=)	Bardet-Biedl syndrome [RCV001466912]	likely benign	12	76346530	76346530	Human	1	name
127317532	CV1122901	single nucleotide variant	NM_024685.4(BBS10):c.1254T>C (p.Leu418=)	Bardet-Biedl syndrome [RCV001465918]	likely benign	12	76346731	76346731	Human	1	name
127302444	CV1122902	single nucleotide variant	NM_024685.4(BBS10):c.1218C>T (p.Leu406=)	BBS10-related disorder [RCV004728729]\|Bardet-Biedl syndrome [RCV001454445]	likely benign	12	76346767	76346767	Human	2	name , trait , alternate_id
127315280	CV1122903	single nucleotide variant	NM_024685.4(BBS10):c.1077G>A (p.Gln359=)	Bardet-Biedl syndrome [RCV001465178]	likely benign	12	76346908	76346908	Human	1	name
127321149	CV1143752	single nucleotide variant	NM_024685.4(BBS10):c.2167C>T (p.Leu723=)	Bardet-Biedl syndrome 10 [RCV001832667]\|Bardet-Biedl syndrome [RCV001504672]	likely benign	12	76345818	76345818	Human	2	name
127289321	CV1143753	single nucleotide variant	NM_024685.4(BBS10):c.1950A>C (p.Gly650=)	Bardet-Biedl syndrome [RCV001495591]	likely benign	12	76346035	76346035	Human	1	name
127306946	CV1143754	single nucleotide variant	NM_024685.4(BBS10):c.1866T>C (p.His622=)	BBS10-related disorder [RCV003966023]\|Bardet-Biedl syndrome [RCV001500353]	likely benign	12	76346119	76346119	Human	2	name , trait , alternate_id
127305509	CV1143755	single nucleotide variant	NM_024685.4(BBS10):c.1824C>T (p.Ile608=)	Bardet-Biedl syndrome [RCV001499925]	likely benign	12	76346161	76346161	Human	1	name
127290522	CV1143756	single nucleotide variant	NM_024685.4(BBS10):c.1740A>G (p.Leu580=)	Bardet-Biedl syndrome [RCV001495998]	likely benign	12	76346245	76346245	Human	1	name
127334469	CV1143757	single nucleotide variant	NM_024685.4(BBS10):c.1641T>G (p.Ala547=)	Bardet-Biedl syndrome [RCV001490833]	likely benign	12	76346344	76346344	Human	1	name
127312392	CV1143758	single nucleotide variant	NM_024685.4(BBS10):c.1527C>T (p.Pro509=)	Bardet-Biedl syndrome [RCV001481671]	likely benign	12	76346458	76346458	Human	1	name
127324770	CV1143759	single nucleotide variant	NM_024685.4(BBS10):c.1314C>T (p.Asp438=)	BBS10-related disorder [RCV004728739]\|Bardet-Biedl syndrome [RCV001485564]	likely benign	12	76346671	76346671	Human	2	name , trait , alternate_id
127315420	CV1143760	single nucleotide variant	NM_024685.4(BBS10):c.1236T>C (p.Asp412=)	Bardet-Biedl syndrome [RCV001482522]	likely benign	12	76346749	76346749	Human	1	name
127292626	CV1143761	single nucleotide variant	NM_024685.4(BBS10):c.1188T>G (p.Ser396=)	Bardet-Biedl syndrome [RCV001496528]	likely benign	12	76346797	76346797	Human	1	name
127314845	CV1143762	single nucleotide variant	NM_024685.4(BBS10):c.1185C>T (p.His395=)	Bardet-Biedl syndrome [RCV001502574]	likely benign	12	76346800	76346800	Human	1	name
151801298	CV1369356	single nucleotide variant	NM_024685.4(BBS10):c.292C>A (p.His98Asn)	Bardet-Biedl syndrome [RCV002028113]	uncertain significance	12	76347693	76347693	Human	1	name
151784729	CV1374560	single nucleotide variant	NM_024685.4(BBS10):c.235A>G (p.Thr79Ala)	Bardet-Biedl syndrome 10 [RCV005415623]\|Bardet-Biedl syndrome [RCV001875701]	uncertain significance	12	76347750	76347750	Human	2	name
151717578	CV1380501	single nucleotide variant	NM_024685.4(BBS10):c.190A>G (p.Ile64Val)	Bardet-Biedl syndrome [RCV002003151]	uncertain significance	12	76348169	76348169	Human	1	name
151775120	CV1413546	single nucleotide variant	NM_024685.4(BBS10):c.1416A>G (p.Thr472=)	Bardet-Biedl syndrome [RCV001971556]	likely benign	12	76346569	76346569	Human	1	name
151772910	CV1414301	deletion	NM_024685.4(BBS10):c.467del (p.Ile156fs)	Bardet-Biedl syndrome [RCV001874626]	pathogenic	12	76347518	76347518	Human	1	name
151878510	CV1416200	single nucleotide variant	NM_024685.4(BBS10):c.196A>G (p.Arg66Gly)	Bardet-Biedl syndrome [RCV001926133]	uncertain significance	12	76348163	76348163	Human	1	name
151773967	CV1424173	single nucleotide variant	NM_024685.4(BBS10):c.188C>T (p.Pro63Leu)	Bardet-Biedl syndrome [RCV002045513]	uncertain significance	12	76348171	76348171	Human	1	name
151774205	CV1424263	single nucleotide variant	NM_024685.4(BBS10):c.187C>A (p.Pro63Thr)	Bardet-Biedl syndrome [RCV002045535]	uncertain significance	12	76348172	76348172	Human	1	name
151781895	CV1458393	deletion	NM_024685.4(BBS10):c.340del (p.Gln114fs)	Bardet-Biedl syndrome [RCV001951157]	pathogenic	12	76347645	76347645	Human	1	name
151836705	CV1469652	duplication	NM_024685.4(BBS10):c.490dup (p.Thr164fs)	Bardet-Biedl syndrome [RCV001880866]	pathogenic	12	76347494	76347495	Human	1	name
152117439	CV1522096	single nucleotide variant	NM_024685.4(BBS10):c.1401G>A (p.Arg467=)	Bardet-Biedl syndrome [RCV002081085]	likely benign	12	76346584	76346584	Human	1	name
152153551	CV1523100	single nucleotide variant	NM_024685.4(BBS10):c.2040A>G (p.Ser680=)	Bardet-Biedl syndrome [RCV002179810]	likely benign	12	76345945	76345945	Human	1	name
152095296	CV1533991	single nucleotide variant	NM_024685.4(BBS10):c.2085G>A (p.Leu695=)	Bardet-Biedl syndrome [RCV002151124]	likely benign	12	76345900	76345900	Human	1	name
152143168	CV1538361	single nucleotide variant	NM_024685.4(BBS10):c.1218C>G (p.Leu406=)	Bardet-Biedl syndrome [RCV002219647]	likely benign	12	76346767	76346767	Human	1	name
152060128	CV1540578	single nucleotide variant	NM_024685.4(BBS10):c.1941T>C (p.Ser647=)	Bardet-Biedl syndrome [RCV002110011]	likely benign	12	76346044	76346044	Human	1	name
152122379	CV1541529	single nucleotide variant	NM_024685.4(BBS10):c.1656A>C (p.Gly552=)	Bardet-Biedl syndrome [RCV002175750]	likely benign	12	76346329	76346329	Human	1	name
152171418	CV1544160	single nucleotide variant	NM_024685.4(BBS10):c.1365T>C (p.Tyr455=)	BBS10-related disorder [RCV004741207]\|Bardet-Biedl syndrome [RCV002162106]	likely benign	12	76346620	76346620	Human	2	name , trait , alternate_id
152171595	CV1552813	single nucleotide variant	NM_024685.4(BBS10):c.1959C>T (p.Ser653=)	Bardet-Biedl syndrome [RCV002143496]	likely benign	12	76346026	76346026	Human	1	name
152164073	CV1560429	single nucleotide variant	NM_024685.4(BBS10):c.1374A>G (p.Pro458=)	Bardet-Biedl syndrome [RCV002160174]	likely benign	12	76346611	76346611	Human	1	name
152171210	CV1562171	single nucleotide variant	NM_024685.4(BBS10):c.1825T>C (p.Leu609=)	Bardet-Biedl syndrome [RCV002183422]	likely benign	12	76346160	76346160	Human	1	name
152087549	CV1574092	single nucleotide variant	NM_024685.4(BBS10):c.1284T>A (p.Leu428=)	Bardet-Biedl syndrome [RCV002150142]	likely benign	12	76346701	76346701	Human	1	name
152104461	CV1574791	single nucleotide variant	NM_024685.4(BBS10):c.1978A>C (p.Arg660=)	BBS10-related disorder [RCV004741228]\|Bardet-Biedl syndrome [RCV002095965]	likely benign	12	76346007	76346007	Human	2	name , trait , alternate_id
152127951	CV1581252	single nucleotide variant	NM_024685.4(BBS10):c.1854C>T (p.Ala618=)	Bardet-Biedl syndrome [RCV002099087]	likely benign	12	76346131	76346131	Human	1	name
152162013	CV1584659	single nucleotide variant	NM_024685.4(BBS10):c.1956C>T (p.Tyr652=)	Bardet-Biedl syndrome [RCV002123372]	likely benign	12	76346029	76346029	Human	1	name
152025575	CV1586403	single nucleotide variant	NM_024685.4(BBS10):c.1320T>C (p.Asn440=)	Bardet-Biedl syndrome [RCV002184865]	likely benign	12	76346665	76346665	Human	1	name
152066779	CV1601755	single nucleotide variant	NM_024685.4(BBS10):c.1248A>G (p.Gly416=)	Bardet-Biedl syndrome [RCV002168769]	likely benign	12	76346737	76346737	Human	1	name
152112197	CV1604107	single nucleotide variant	NM_024685.4(BBS10):c.1383T>C (p.Gly461=)	Bardet-Biedl syndrome [RCV002097003]	likely benign	12	76346602	76346602	Human	1	name
152112256	CV1604145	single nucleotide variant	NM_024685.4(BBS10):c.1929C>T (p.Val643=)	Bardet-Biedl syndrome [RCV002097011]	likely benign	12	76346056	76346056	Human	1	name
152162600	CV1606344	single nucleotide variant	NM_024685.4(BBS10):c.2103T>C (p.Ile701=)	Bardet-Biedl syndrome [RCV002181188]	likely benign	12	76345882	76345882	Human	1	name
152082053	CV1607934	single nucleotide variant	NM_024685.4(BBS10):c.1572A>C (p.Thr524=)	Bardet-Biedl syndrome [RCV002193149]	likely benign	12	76346413	76346413	Human	1	name
152077217	CV1612932	single nucleotide variant	NM_024685.4(BBS10):c.1531C>T (p.Leu511=)	Bardet-Biedl syndrome [RCV002075894]	likely benign	12	76346454	76346454	Human	1	name
152039238	CV1617028	single nucleotide variant	NM_024685.4(BBS10):c.1395A>C (p.Ile465=)	Bardet-Biedl syndrome [RCV002087708]	likely benign	12	76346590	76346590	Human	1	name
152094937	CV1617619	single nucleotide variant	NM_024685.4(BBS10):c.1809T>C (p.Gly603=)	Bardet-Biedl syndrome [RCV002114578]	likely benign	12	76346176	76346176	Human	1	name
152165903	CV1618123	single nucleotide variant	NM_024685.4(BBS10):c.1143T>C (p.Tyr381=)	BBS10-related disorder [RCV004741262]\|Bardet-Biedl syndrome [RCV002204337]	likely benign	12	76346842	76346842	Human	2	name , trait , alternate_id
152076029	CV1632636	single nucleotide variant	NM_024685.4(BBS10):c.1971A>G (p.Thr657=)	Bardet-Biedl syndrome [RCV002169925]	likely benign	12	76346014	76346014	Human	1	name
8556124	CV16368	single nucleotide variant	NM_024685.4(BBS10):c.101G>C (p.Arg34Pro)	Bardet-Biedl syndrome 10 [RCV000001392]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	12	76348258	76348258	Human	1	name
152169306	CV1636999	single nucleotide variant	NM_024685.4(BBS10):c.1059A>T (p.Pro353=)	Bardet-Biedl syndrome [RCV002182749]	likely benign	12	76346926	76346926	Human	1	name
152107480	CV1639193	single nucleotide variant	NM_024685.4(BBS10):c.2059C>T (p.Leu687=)	Bardet-Biedl syndrome [RCV002152602]	likely benign	12	76345926	76345926	Human	1	name
152143307	CV1640781	single nucleotide variant	NM_024685.4(BBS10):c.1416A>C (p.Thr472=)	Bardet-Biedl syndrome [RCV002178340]	likely benign	12	76346569	76346569	Human	1	name
152125312	CV1646153	single nucleotide variant	NM_024685.4(BBS10):c.1557A>G (p.Thr519=)	Bardet-Biedl syndrome [RCV002217320]	likely benign	12	76346428	76346428	Human	1	name
152079873	CV1649819	single nucleotide variant	NM_024685.4(BBS10):c.1506A>G (p.Thr502=)	Bardet-Biedl syndrome [RCV002092705]	likely benign	12	76346479	76346479	Human	1	name
152075448	CV1652975	single nucleotide variant	NM_024685.4(BBS10):c.1014A>G (p.Glu338=)	Bardet-Biedl syndrome [RCV002148635]	likely benign	12	76346971	76346971	Human	1	name
152064444	CV1654257	single nucleotide variant	NM_024685.4(BBS10):c.1509T>C (p.Tyr503=)	Bardet-Biedl syndrome [RCV002190953]	likely benign	12	76346476	76346476	Human	1	name
152064545	CV1654282	single nucleotide variant	NM_024685.4(BBS10):c.2070A>G (p.Ser690=)	Bardet-Biedl syndrome [RCV002190968]	likely benign	12	76345915	76345915	Human	1	name
152053555	CV1659363	single nucleotide variant	NM_024685.4(BBS10):c.1623C>G (p.Leu541=)	Bardet-Biedl syndrome [RCV002189699]	likely benign	12	76346362	76346362	Human	1	name
152109679	CV1665085	single nucleotide variant	NM_024685.4(BBS10):c.1947A>G (p.Thr649=)	Bardet-Biedl syndrome [RCV002080076]	likely benign	12	76346038	76346038	Human	1	name
152156895	CV1668809	single nucleotide variant	NM_024685.4(BBS10):c.179T>G (p.Leu60Ter)	Bardet-Biedl syndrome [RCV002223035]	likely pathogenic	12	76348180	76348180	Human	1	name
155795056	CV1858719	duplication	NM_024685.4(BBS10):c.805dup (p.Ser269fs)	Bardet-Biedl syndrome 10 [RCV002463840]\|Bardet-Biedl syndrome [RCV003103154]	pathogenic	12	76347179	76347180	Human	2	name
156316327	CV1869876	single nucleotide variant	NM_024685.4(BBS10):c.187C>G (p.Pro63Ala)	BBS10-related disorder [RCV004741381]\|Bardet-Biedl syndrome [RCV003062765]\|Inborn genetic diseases [RCV003067982]	uncertain significance	12	76348172	76348172	Human	3	name , trait , alternate_id
156312350	CV1874520	deletion	NM_024685.4(BBS10):c.391del (p.Gln131fs)	Bardet-Biedl syndrome 10 [RCV005010895]\|Bardet-Biedl syndrome [RCV003062527]	pathogenic\|likely pathogenic	12	76347594	76347594	Human	2	name
156350196	CV1886098	single nucleotide variant	NM_024685.4(BBS10):c.1296C>T (p.Tyr432=)	Bardet-Biedl syndrome [RCV003090913]	likely benign	12	76346689	76346689	Human	1	name
156401989	CV1908056	single nucleotide variant	NM_024685.4(BBS10):c.166G>C (p.Glu56Gln)	Bardet-Biedl syndrome [RCV002584980]	uncertain significance	12	76348193	76348193	Human	1	name
156310233	CV1925091	single nucleotide variant	NM_024685.4(BBS10):c.199A>G (p.Met67Val)	BBS10-related disorder [RCV003410138]\|Bardet-Biedl syndrome [RCV002629720]\|Inborn genetic diseases [RCV004963527]	uncertain significance	12	76347786	76347786	Human	3	name , trait , alternate_id
156444274	CV1937802	single nucleotide variant	NM_024685.4(BBS10):c.221G>T (p.Ser74Ile)	BBS10-related disorder [RCV004741448]\|Bardet-Biedl syndrome [RCV003115197]	uncertain significance	12	76347764	76347764	Human	2	name , trait , alternate_id
156438408	CV1947013	single nucleotide variant	NM_024685.4(BBS10):c.1917C>G (p.Gly639=)	Bardet-Biedl syndrome [RCV003108350]	likely benign	12	76346068	76346068	Human	1	name
156378890	CV1971639	single nucleotide variant	NM_024685.4(BBS10):c.1149T>C (p.His383=)	Bardet-Biedl syndrome [RCV002603818]	likely benign	12	76346836	76346836	Human	1	name
155904722	CV1975916	single nucleotide variant	NM_024685.4(BBS10):c.2070A>T (p.Ser690=)	Bardet-Biedl syndrome [RCV002613605]	likely benign	12	76345915	76345915	Human	1	name
155999803	CV2045485	single nucleotide variant	NM_024685.4(BBS10):c.1812T>C (p.Gly604=)	BBS10-related disorder [RCV004741329]\|Bardet-Biedl syndrome [RCV002756145]	likely benign	12	76346173	76346173	Human	2	name , trait , alternate_id
156127340	CV2046941	single nucleotide variant	NM_024685.4(BBS10):c.155G>A (p.Gly52Asp)	Bardet-Biedl syndrome [RCV002800474]	uncertain significance	12	76348204	76348204	Human	1	name
156158688	CV2049420	single nucleotide variant	NM_024685.4(BBS10):c.1383T>A (p.Gly461=)	Bardet-Biedl syndrome [RCV002801548]	likely benign	12	76346602	76346602	Human	1	name
156352707	CV2065961	single nucleotide variant	NM_024685.4(BBS10):c.1095T>C (p.Thr365=)	Bardet-Biedl syndrome [RCV002811902]	likely benign	12	76346890	76346890	Human	1	name
156282335	CV2071158	single nucleotide variant	NM_024685.4(BBS10):c.2049T>A (p.Gly683=)	Bardet-Biedl syndrome [RCV002856428]	likely benign	12	76345936	76345936	Human	1	name
156206500	CV2076738	single nucleotide variant	NM_024685.4(BBS10):c.1773C>G (p.Ser591=)	Bardet-Biedl syndrome [RCV002852662]	likely benign	12	76346212	76346212	Human	1	name
156026572	CV2078143	single nucleotide variant	NM_024685.4(BBS10):c.1035C>T (p.Ile345=)	Bardet-Biedl syndrome [RCV002866865]	likely benign	12	76346950	76346950	Human	1	name
156220973	CV2078466	single nucleotide variant	NM_024685.4(BBS10):c.1101G>A (p.Leu367=)	Bardet-Biedl syndrome [RCV002894182]	likely benign	12	76346884	76346884	Human	1	name
156221528	CV2078551	single nucleotide variant	NM_024685.4(BBS10):c.1329A>G (p.Ser443=)	Bardet-Biedl syndrome [RCV002894203]	likely benign	12	76346656	76346656	Human	1	name
156125565	CV2090189	single nucleotide variant	NM_024685.4(BBS10):c.1989T>C (p.His663=)	BBS10-related disorder [RCV003898560]\|Bardet-Biedl syndrome [RCV002889737]	likely benign	12	76345996	76345996	Human	2	name , trait , alternate_id
156320287	CV2090626	single nucleotide variant	NM_024685.4(BBS10):c.1278A>G (p.Lys426=)	Bardet-Biedl syndrome [RCV002899244]	likely benign	12	76346707	76346707	Human	1	name
156031512	CV2093527	single nucleotide variant	NM_024685.4(BBS10):c.1944A>G (p.Lys648=)	Bardet-Biedl syndrome [RCV002885419]	likely benign	12	76346041	76346041	Human	1	name
156087506	CV2095213	single nucleotide variant	NM_024685.4(BBS10):c.1869A>G (p.Gln623=)	Bardet-Biedl syndrome [RCV002912918]	likely benign	12	76346116	76346116	Human	1	name
156321398	CV2101036	single nucleotide variant	NM_024685.4(BBS10):c.1170T>C (p.Cys390=)	Bardet-Biedl syndrome [RCV002899317]	likely benign	12	76346815	76346815	Human	1	name
156096855	CV2102959	single nucleotide variant	NM_024685.4(BBS10):c.2130C>T (p.His710=)	Bardet-Biedl syndrome [RCV002913250]	likely benign	12	76345855	76345855	Human	1	name
155991101	CV2116232	single nucleotide variant	NM_024685.4(BBS10):c.2095T>C (p.Leu699=)	Bardet-Biedl syndrome [RCV002947334]	likely benign	12	76345890	76345890	Human	1	name
155930797	CV2129139	single nucleotide variant	NM_024685.4(BBS10):c.1038T>C (p.Ile346=)	Bardet-Biedl syndrome [RCV002970620]	likely benign	12	76346947	76346947	Human	1	name
10408700	CV213011	deletion	NM_024685.4(BBS10):c.687del (p.Val230fs)	BBS10-related disorder [RCV003401079]\|Bardet-Biedl syndrome 10 [RCV000401310]\|Bardet-Biedl syndrome [RCV000197461]\|not provided [RCV000724959]	pathogenic	12	76347298	76347298	Human	2	name , trait , alternate_id
155961769	CV2144430	single nucleotide variant	NM_024685.4(BBS10):c.2031T>G (p.Gly677=)	Bardet-Biedl syndrome [RCV003015503]	likely benign	12	76345954	76345954	Human	1	name
156107011	CV2161014	single nucleotide variant	NM_024685.4(BBS10):c.268C>G (p.Leu90Val)	Bardet-Biedl syndrome [RCV003038794]	uncertain significance	12	76347717	76347717	Human	1	name
156048243	CV2186578	single nucleotide variant	NM_024685.4(BBS10):c.2010C>T (p.Pro670=)	Bardet-Biedl syndrome [RCV003036818]	likely benign	12	76345975	76345975	Human	1	name
156346316	CV2191219	single nucleotide variant	NM_024685.4(BBS10):c.158G>C (p.Arg53Pro)	Bardet-Biedl syndrome [RCV003048030]	uncertain significance	12	76348201	76348201	Human	1	name
11060042	CV226933	single nucleotide variant	NM_024685.4(BBS10):c.145C>T (p.Arg49Trp)	BBS10-related disorder [RCV003407735]\|Bardet-Biedl syndrome 1 [RCV003228914]\|Bardet-Biedl syndrome 10 [RCV000576728]\|Bardet-Biedl syndrome [RCV000799037]\|Inborn genetic diseases [RCV000210662]\|Retinal dystrophy [RCV000626963]\|Retinal dystrophy [RCV001075496]\|not ... (more) provided [RCV001291592]	pathogenic\|likely pathogenic	12	76348214	76348214	Human	13	name , trait , alternate_id
156082443	CV2301162	single nucleotide variant	NM_024685.4(BBS10):c.281T>G (p.Leu94Arg)	Inborn genetic diseases [RCV002887522]	uncertain significance	12	76347704	76347704	Human	1	name
11543150	CV254721	single nucleotide variant	NM_024685.4(BBS10):c.1545T>C (p.Asp515=)	Bardet-Biedl syndrome 10 [RCV001094149]\|Bardet-Biedl syndrome [RCV000365957]\|not specified [RCV000242073]	benign\|likely benign\|conflicting interpretations of pathogenicity	12	76346440	76346440	Human	2	name
11549208	CV254722	single nucleotide variant	NM_024685.4(BBS10):c.1215T>G (p.Gly405=)	Bardet-Biedl syndrome [RCV001494226]\|not specified [RCV000250113]	likely benign	12	76346770	76346770	Human	1	name
401872674	CV2749674	single nucleotide variant	NM_024685.4(BBS10):c.263T>C (p.Ile88Thr)	Bardet-Biedl syndrome [RCV005061280]\|not provided [RCV003332802]	uncertain significance	12	76347722	76347722	Human	1	name
401906018	CV2804644	single nucleotide variant	NM_024685.4(BBS10):c.1140A>G (p.Arg380=)	BBS10-related disorder [RCV003420926]	uncertain significance	12	76346845	76346845	Human		name , trait , alternate_id
401946370	CV2833694	duplication	NM_024685.4(BBS10):c.807dup (p.Thr270fs)	Bardet-Biedl syndrome 10 [RCV003465029]	likely pathogenic	12	76347177	76347178	Human	1	name
401949557	CV2833713	deletion	NM_024685.4(BBS10):c.461del (p.Leu154fs)	Bardet-Biedl syndrome 10 [RCV003474318]	likely pathogenic	12	76347524	76347524	Human	1	name
405065222	CV2857264	single nucleotide variant	NM_024685.4(BBS10):c.1899A>T (p.Ile633=)	Bardet-Biedl syndrome [RCV003523232]	likely benign	12	76346086	76346086	Human	1	name
405052879	CV2870069	single nucleotide variant	NM_024685.4(BBS10):c.1851T>C (p.Tyr617=)	Bardet-Biedl syndrome [RCV003522299]	likely benign	12	76346134	76346134	Human	1	name
405078276	CV2875564	single nucleotide variant	NM_024685.4(BBS10):c.1572A>T (p.Thr524=)	BBS10-related disorder [RCV004738782]\|Bardet-Biedl syndrome [RCV003524338]	likely benign	12	76346413	76346413	Human	2	name , trait , alternate_id
405078187	CV2879136	single nucleotide variant	NM_024685.4(BBS10):c.1686A>G (p.Leu562=)	Bardet-Biedl syndrome [RCV003524330]	likely benign	12	76346299	76346299	Human	1	name
404990068	CV2886394	single nucleotide variant	NM_024685.4(BBS10):c.1704T>C (p.Thr568=)	Bardet-Biedl syndrome [RCV003524961]	likely benign	12	76346281	76346281	Human	1	name
404992626	CV2897943	single nucleotide variant	NM_024685.4(BBS10):c.1725A>C (p.Pro575=)	Bardet-Biedl syndrome [RCV003525243]	likely benign	12	76346260	76346260	Human	1	name
405070722	CV2904665	single nucleotide variant	NM_024685.4(BBS10):c.1641T>A (p.Ala547=)	Bardet-Biedl syndrome [RCV003523803]	likely benign	12	76346344	76346344	Human	1	name
405080158	CV2916439	single nucleotide variant	NM_024685.4(BBS10):c.1515G>C (p.Pro505=)	Bardet-Biedl syndrome [RCV003524504]	likely benign	12	76346470	76346470	Human	1	name
404987268	CV2921247	single nucleotide variant	NM_024685.4(BBS10):c.1392A>G (p.Ser464=)	Bardet-Biedl syndrome [RCV003524668]	likely benign	12	76346593	76346593	Human	1	name
405057491	CV2926362	single nucleotide variant	NM_024685.4(BBS10):c.1716C>T (p.Ser572=)	Bardet-Biedl syndrome [RCV003522689]	likely benign	12	76346269	76346269	Human	1	name
405081028	CV2938898	single nucleotide variant	NM_024685.4(BBS10):c.1317A>G (p.Gln439=)	Bardet-Biedl syndrome [RCV003633866]	likely benign	12	76346668	76346668	Human	1	name
405078986	CV2944694	single nucleotide variant	NM_024685.4(BBS10):c.1683T>C (p.Asn561=)	Bardet-Biedl syndrome [RCV003633814]	likely benign	12	76346302	76346302	Human	1	name
405086052	CV2951641	single nucleotide variant	NM_024685.4(BBS10):c.1953G>A (p.Lys651=)	Bardet-Biedl syndrome [RCV003634446]	likely benign	12	76346032	76346032	Human	1	name
405081678	CV2953880	single nucleotide variant	NM_024685.4(BBS10):c.1599A>G (p.Leu533=)	Bardet-Biedl syndrome [RCV003633946]	likely benign	12	76346386	76346386	Human	1	name
405086271	CV2955227	single nucleotide variant	NM_024685.4(BBS10):c.2106C>T (p.Asp702=)	Bardet-Biedl syndrome [RCV003634463]	likely benign	12	76345879	76345879	Human	1	name
405086847	CV2962937	single nucleotide variant	NM_024685.4(BBS10):c.284G>C (p.Arg95Thr)	Bardet-Biedl syndrome [RCV003634510]	uncertain significance	12	76347701	76347701	Human	1	name
405087050	CV2970524	single nucleotide variant	NM_024685.4(BBS10):c.197G>A (p.Arg66Lys)	Bardet-Biedl syndrome [RCV003634527]	likely pathogenic	12	76348162	76348162	Human	1	name
405087090	CV2970586	single nucleotide variant	NM_024685.4(BBS10):c.1167A>G (p.Thr389=)	Bardet-Biedl syndrome [RCV003634530]	likely benign	12	76346818	76346818	Human	1	name
405088674	CV2972791	single nucleotide variant	NM_024685.4(BBS10):c.2004T>C (p.Asn668=)	Bardet-Biedl syndrome [RCV003634664]	likely benign	12	76345981	76345981	Human	1	name
405092309	CV2990812	single nucleotide variant	NM_024685.4(BBS10):c.1224A>G (p.Glu408=)	Bardet-Biedl syndrome [RCV003634934]	likely benign	12	76346761	76346761	Human	1	name
405092549	CV2991468	single nucleotide variant	NM_024685.4(BBS10):c.1929C>A (p.Val643=)	Bardet-Biedl syndrome [RCV003634957]	likely benign	12	76346056	76346056	Human	1	name
405092218	CV2997788	single nucleotide variant	NM_024685.4(BBS10):c.1542A>C (p.Thr514=)	Bardet-Biedl syndrome [RCV003634925]	likely benign	12	76346443	76346443	Human	1	name
405095691	CV3009661	single nucleotide variant	NM_024685.4(BBS10):c.1293T>C (p.Asn431=)	Bardet-Biedl syndrome [RCV003635288]	likely benign	12	76346692	76346692	Human	1	name
405070317	CV3019618	duplication	NM_024685.4(BBS10):c.496dup (p.Cys166fs)	Bardet-Biedl syndrome [RCV003633083]	pathogenic	12	76347488	76347489	Human	1	name
405069072	CV3022099	single nucleotide variant	NM_024685.4(BBS10):c.1257A>G (p.Lys419=)	Bardet-Biedl syndrome [RCV003632994]	likely benign	12	76346728	76346728	Human	1	name
405070237	CV3023165	single nucleotide variant	NM_024685.4(BBS10):c.1828T>C (p.Leu610=)	Bardet-Biedl syndrome [RCV003633077]	likely benign	12	76346157	76346157	Human	1	name
405070245	CV3023215	duplication	NM_024685.4(BBS10):c.483dup (p.Glu162fs)	Bardet-Biedl syndrome [RCV003633078]	pathogenic	12	76347501	76347502	Human	1	name
405071136	CV3030962	single nucleotide variant	NM_024685.4(BBS10):c.1548A>C (p.Thr516=)	Bardet-Biedl syndrome [RCV003633145]	likely benign	12	76346437	76346437	Human	1	name
405072157	CV3035400	single nucleotide variant	NM_024685.4(BBS10):c.2061A>G (p.Leu687=)	Bardet-Biedl syndrome [RCV003633215]	likely benign	12	76345924	76345924	Human	1	name
405073424	CV3037341	single nucleotide variant	NM_024685.4(BBS10):c.1698T>C (p.Asn566=)	Bardet-Biedl syndrome [RCV003633280]	likely benign	12	76346287	76346287	Human	1	name
405081735	CV3058189	single nucleotide variant	NM_024685.4(BBS10):c.1269A>G (p.Gln423=)	BBS10-related disorder [RCV004723447]\|Bardet-Biedl syndrome [RCV003634073]	likely benign	12	76346716	76346716	Human	2	name , trait , alternate_id
405083235	CV3075329	single nucleotide variant	NM_024685.4(BBS10):c.1308C>G (p.Thr436=)	Bardet-Biedl syndrome [RCV003634184]	likely benign	12	76346677	76346677	Human	1	name
405129829	CV3114949	single nucleotide variant	NM_024685.4(BBS10):c.1041T>G (p.Gly347=)	Bardet-Biedl syndrome [RCV003815794]	likely benign	12	76346944	76346944	Human	1	name
405010594	CV3118337	single nucleotide variant	NM_024685.4(BBS10):c.1623C>T (p.Leu541=)	Bardet-Biedl syndrome [RCV003828767]	likely benign	12	76346362	76346362	Human	1	name
405199128	CV3128792	single nucleotide variant	NM_024685.4(BBS10):c.1618T>C (p.Leu540=)	Bardet-Biedl syndrome [RCV003821835]	likely benign	12	76346367	76346367	Human	1	name
405057233	CV3134874	single nucleotide variant	NM_024685.4(BBS10):c.1912T>C (p.Leu638=)	BBS10-related disorder [RCV004738922]\|Bardet-Biedl syndrome [RCV003832546]	likely benign	12	76346073	76346073	Human	2	name , trait , alternate_id
405229251	CV3153472	single nucleotide variant	NM_024685.4(BBS10):c.1582T>C (p.Leu528=)	Bardet-Biedl syndrome [RCV003848537]	likely benign	12	76346403	76346403	Human	1	name
405191774	CV3157124	single nucleotide variant	NM_024685.4(BBS10):c.1173A>G (p.Ala391=)	Bardet-Biedl syndrome [RCV003859812]	likely benign	12	76346812	76346812	Human	1	name
405217555	CV3160915	single nucleotide variant	NM_024685.4(BBS10):c.2062C>T (p.Leu688=)	Bardet-Biedl syndrome [RCV003862977]	likely benign	12	76345923	76345923	Human	1	name
404979369	CV3183194	single nucleotide variant	NM_024685.4(BBS10):c.1005A>G (p.Ser335=)	Bardet-Biedl syndrome [RCV003880217]	likely benign	12	76346980	76346980	Human	1	name
405705715	CV3301616	single nucleotide variant	NM_024685.4(BBS10):c.143G>C (p.Ser48Thr)	Inborn genetic diseases [RCV004426043]	uncertain significance	12	76348216	76348216	Human	1	name
11617534	CV332911	single nucleotide variant	NM_024685.4(BBS10):c.1974T>C (p.Tyr658=)	Bardet-Biedl syndrome 10 [RCV000305620]\|Bardet-Biedl syndrome [RCV001460767]	likely benign\|uncertain significance	12	76346011	76346011	Human	2	name
11619990	CV332914	single nucleotide variant	NM_024685.4(BBS10):c.1158G>A (p.Leu386=)	Bardet-Biedl syndrome 10 [RCV001094233]\|Bardet-Biedl syndrome [RCV000331467]\|not provided [RCV000588184]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	76346827	76346827	Human	2	name
405870433	CV3399848	single nucleotide variant	NM_024685.4(BBS10):c.103C>T (p.Gln35Ter)	Bardet-Biedl syndrome 10 [RCV004573996]	likely pathogenic	12	76348256	76348256	Human	1	name
405870439	CV3399849	deletion	NM_024685.4(BBS10):c.865del (p.Trp289fs)	Bardet-Biedl syndrome 10 [RCV004573997]	likely pathogenic	12	76347120	76347120	Human	1	name
407476740	CV3494997	single nucleotide variant	NM_024685.4(BBS10):c.146G>T (p.Arg49Leu)	Bardet-Biedl syndrome 10 [RCV005006492]\|Bardet-Biedl syndrome [RCV004690898]	likely pathogenic	12	76348213	76348213	Human	2	name
408375513	CV3506380	single nucleotide variant	NM_024685.4(BBS10):c.275A>C (p.His92Pro)	BBS10-related disorder [RCV004726260]\|not provided [RCV005255793]	uncertain significance	12	76347710	76347710	Human	1	name , trait , alternate_id
408375821	CV3506518	single nucleotide variant	NM_024685.4(BBS10):c.1302A>G (p.Thr434=)	BBS10-related disorder [RCV004726343]	likely benign	12	76346683	76346683	Human		name , trait , alternate_id
408370129	CV3508308	single nucleotide variant	NM_024685.4(BBS10):c.263T>A (p.Ile88Asn)	BBS10-related disorder [RCV004739100]	uncertain significance	12	76347722	76347722	Human		name , trait , alternate_id
408370677	CV3512306	single nucleotide variant	NM_024685.4(BBS10):c.1605T>C (p.Asp535=)	BBS10-related disorder [RCV004739964]\|Bardet-Biedl syndrome [RCV005103788]	likely benign	12	76346380	76346380	Human	2	name , trait , alternate_id
408370894	CV3514554	single nucleotide variant	NM_024685.4(BBS10):c.187C>T (p.Pro63Ser)	BBS10-related disorder [RCV004740181]\|Bardet-Biedl syndrome [RCV005103838]	uncertain significance	12	76348172	76348172	Human	2	name , trait , alternate_id
408371493	CV3516461	single nucleotide variant	NM_024685.4(BBS10):c.172C>A (p.Leu58Ile)	BBS10-related disorder [RCV004740870]	uncertain significance	12	76348187	76348187	Human		name , trait , alternate_id
408390433	CV3519295	single nucleotide variant	NM_024685.4(BBS10):c.152G>A (p.Gly51Glu)	not provided [RCV004762604]	uncertain significance	12	76348207	76348207	Human		name
12739354	CV358123	duplication	NM_024685.4(BBS10):c.365dup (p.Asn122fs)	Bardet-Biedl syndrome 10 [RCV000409427]\|Bardet-Biedl syndrome [RCV001382787]	pathogenic\|likely pathogenic	12	76347619	76347620	Human	2	name
597727503	CV3707340	deletion	NM_024685.4(BBS10):c.955del (p.Val319fs)	Bardet-Biedl syndrome 10 [RCV005011591]	likely pathogenic	12	76347030	76347030	Human	1	name
597673403	CV3707353	duplication	NM_024685.4(BBS10):c.550dup (p.Arg184fs)	Bardet-Biedl syndrome 10 [RCV005005369]	likely pathogenic	12	76347434	76347435	Human	1	name
597673448	CV3707364	single nucleotide variant	NM_024685.4(BBS10):c.275A>G (p.His92Arg)	Bardet-Biedl syndrome 10 [RCV005005374]	uncertain significance	12	76347710	76347710	Human	1	name
597727649	CV3707365	single nucleotide variant	NM_024685.4(BBS10):c.244G>A (p.Gly82Ser)	Bardet-Biedl syndrome 10 [RCV005011607]	uncertain significance	12	76347741	76347741	Human	1	name
597673889	CV3707366	single nucleotide variant	NM_024685.4(BBS10):c.181G>C (p.Glu61Gln)	Bardet-Biedl syndrome 10 [RCV005005375]	uncertain significance	12	76348178	76348178	Human	1	name
597727661	CV3707367	single nucleotide variant	NM_024685.4(BBS10):c.170C>A (p.Ala57Glu)	Bardet-Biedl syndrome 10 [RCV005011608]	uncertain significance	12	76348189	76348189	Human	1	name
597845155	CV3768543	single nucleotide variant	NM_024685.4(BBS10):c.1146T>C (p.Val382=)	Bardet-Biedl syndrome [RCV005120729]	likely benign	12	76346839	76346839	Human	1	name
597887584	CV3814489	single nucleotide variant	NM_024685.4(BBS10):c.1116A>G (p.Lys372=)	Bardet-Biedl syndrome [RCV005162820]	likely benign	12	76346869	76346869	Human	1	name
8568607	CV39775	single nucleotide variant	NM_024685.4(BBS10):c.273C>G (p.Cys91Trp)	Bardet-Biedl syndrome 1 [RCV003228900]\|Bardet-Biedl syndrome 10 [RCV000023803]\|Bardet-Biedl syndrome [RCV000225785]\|Retinal dystrophy [RCV004814923]\|not provided [RCV000732709]	pathogenic\|likely pathogenic	12	76347712	76347712	Human	5	name
616933671	CV4011630	single nucleotide variant	NM_024685.4(BBS10):c.203T>G (p.Ile68Arg)	not specified [RCV005408179]	uncertain significance	12	76347782	76347782	Human		name
617151446	CV4017981	single nucleotide variant	NM_024685.4(BBS10):c.258T>A (p.Phe86Leu)	not specified [RCV005417771]	uncertain significance	12	76347727	76347727	Human		name
12895432	CV408746	duplication	NM_024685.4(BBS10):c.646dup (p.Asp216fs)	Bardet-Biedl syndrome 10 [RCV003463993]\|Bardet-Biedl syndrome [RCV000826096]\|not provided [RCV000486438]	pathogenic\|likely pathogenic	12	76347338	76347339	Human	2	name
13216851	CV429448	single nucleotide variant	NM_024685.4(BBS10):c.1674T>G (p.Ser558=)	not specified [RCV000504274]	likely benign	12	76346311	76346311	Human		name
13217003	CV429452	single nucleotide variant	NM_024685.4(BBS10):c.1074G>T (p.Ser358=)	BBS10-related disorder [RCV004740273]\|Bardet-Biedl syndrome 10 [RCV002496941]\|Bardet-Biedl syndrome [RCV001401002]\|not specified [RCV000504464]	likely benign	12	76346911	76346911	Human	2	name , trait , alternate_id
8569277	CV44414	single nucleotide variant	NM_024685.4(BBS10):c.1245T>C (p.His415=)	BBS10-related disorder [RCV003924862]\|Bardet-Biedl syndrome 10 [RCV002490409]\|Bardet-Biedl syndrome [RCV000029401]	benign\|likely benign	12	76346740	76346740	Human	2	name , trait , alternate_id
13525902	CV512858	single nucleotide variant	NM_024685.4(BBS10):c.164T>C (p.Leu55Pro)	Bardet-Biedl syndrome 1 [RCV000625185]\|Bardet-Biedl syndrome 10 [RCV000763309]\|Bardet-Biedl syndrome [RCV001383856]\|not provided [RCV001579764]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	12	76348195	76348195	Human	3	name
13783834	CV546735	deletion	NM_024685.4(BBS10):c.414del (p.Gln139fs)	Bardet-Biedl syndrome 10 [RCV000668525]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	12	76347571	76347571	Human	1	name
13783864	CV546736	deletion	NM_024685.4(BBS10):c.320del (p.Pro107fs)	Bardet-Biedl syndrome 10 [RCV000671097]	likely pathogenic	12	76347665	76347665	Human	1	name
13783884	CV546882	single nucleotide variant	NM_024685.4(BBS10):c.130G>T (p.Glu44Ter)	Bardet-Biedl syndrome 10 [RCV000672846]	likely pathogenic	12	76348229	76348229	Human	1	name
13783823	CV547266	single nucleotide variant	NM_024685.4(BBS10):c.118A>T (p.Lys40Ter)	Bardet-Biedl syndrome 10 [RCV000667409]\|Bardet-Biedl syndrome [RCV001387800]	pathogenic\|likely pathogenic	12	76348241	76348241	Human	2	name
14349727	CV576235	deletion	NM_024685.4(BBS10):c.724del (p.Gln242fs)	Bardet-Biedl syndrome [RCV000735927]	pathogenic	12	76347261	76347261	Human	1	name
14349722	CV576237	single nucleotide variant	NM_024685.4(BBS10):c.198G>T (p.Arg66Ser)	Bardet-Biedl syndrome [RCV000735924]	pathogenic	12	76347787	76347787	Human	1	name
13832213	CV582705	single nucleotide variant	NM_024685.4(BBS10):c.290T>G (p.Leu97Arg)	not provided [RCV000722897]	uncertain significance	12	76347695	76347695	Human		name
14733961	CV641390	duplication	NM_024685.4(BBS10):c.445dup (p.Leu149fs)	Bardet-Biedl syndrome 10 [RCV002495166]\|Bardet-Biedl syndrome [RCV000818918]\|not provided [RCV004723240]	pathogenic\|likely pathogenic\|uncertain significance	12	76347539	76347540	Human	2	name
15134426	CV684346	single nucleotide variant	NM_024685.4(BBS10):c.1743G>A (p.Pro581=)	Bardet-Biedl syndrome 10 [RCV001274500]\|Bardet-Biedl syndrome [RCV000864135]	likely benign	12	76346242	76346242	Human	2	name
15125932	CV684347	single nucleotide variant	NM_024685.4(BBS10):c.1629C>T (p.Asn543=)	BBS10-related disorder [RCV003955590]\|Bardet-Biedl syndrome 10 [RCV001825716]\|Bardet-Biedl syndrome [RCV001443437]\|not specified [RCV001816949]	likely benign	12	76346356	76346356	Human	2	name , trait , alternate_id
15125298	CV684350	single nucleotide variant	NM_024685.4(BBS10):c.1050A>G (p.Pro350=)	BBS10-related disorder [RCV003983220]\|Bardet-Biedl syndrome 10 [RCV002495227]\|Bardet-Biedl syndrome [RCV000862560]	likely benign	12	76346935	76346935	Human	2	name , trait , alternate_id
15117966	CV684351	single nucleotide variant	NM_024685.4(BBS10):c.1041T>C (p.Gly347=)	BBS10-related disorder [RCV003908152]\|Bardet-Biedl syndrome [RCV000861225]	likely benign	12	76346944	76346944	Human	2	name , trait , alternate_id
15158805	CV688044	single nucleotide variant	NM_024685.4(BBS10):c.2142T>G (p.Val714=)	BBS10-related disorder [RCV003895290]\|Bardet-Biedl syndrome 10 [RCV001830903]\|Bardet-Biedl syndrome [RCV000868708]	likely benign	12	76345843	76345843	Human	2	name , trait , alternate_id
15136706	CV688045	single nucleotide variant	NM_024685.4(BBS10):c.1941T>G (p.Ser647=)	Bardet-Biedl syndrome [RCV000864538]	likely benign	12	76346044	76346044	Human	1	name
15138394	CV688046	single nucleotide variant	NM_024685.4(BBS10):c.1776A>G (p.Ser592=)	Bardet-Biedl syndrome [RCV000864827]	likely benign	12	76346209	76346209	Human	1	name
15146521	CV688047	single nucleotide variant	NM_024685.4(BBS10):c.1548A>T (p.Thr516=)	BBS10-related disorder [RCV003928386]\|Bardet-Biedl syndrome 10 [RCV001271999]\|Bardet-Biedl syndrome [RCV000866282]	likely benign\|uncertain significance	12	76346437	76346437	Human	2	name , trait , alternate_id
15160038	CV688048	single nucleotide variant	NM_024685.4(BBS10):c.1437A>G (p.Ala479=)	BBS10-related disorder [RCV003908250]\|Bardet-Biedl syndrome [RCV001449144]	likely benign	12	76346548	76346548	Human	2	name , trait , alternate_id
15148756	CV688050	single nucleotide variant	NM_024685.4(BBS10):c.1074G>A (p.Ser358=)	BBS10-related disorder [RCV003965711]\|Bardet-Biedl syndrome 10 [RCV001278745]\|Bardet-Biedl syndrome [RCV000866725]	benign\|likely benign	12	76346911	76346911	Human	2	name , trait , alternate_id
15122169	CV693287	single nucleotide variant	NM_024685.4(BBS10):c.1287T>C (p.Asp429=)	BBS10-related disorder [RCV004740475]\|Bardet-Biedl syndrome 10 [RCV001825766]\|Bardet-Biedl syndrome [RCV000874364]	likely benign	12	76346698	76346698	Human	2	name , trait , alternate_id
15125880	CV769307	single nucleotide variant	NM_024685.4(BBS10):c.1617A>G (p.Pro539=)	Bardet-Biedl syndrome [RCV000941278]	likely benign	12	76346368	76346368	Human	1	name
15200104	CV769308	single nucleotide variant	NM_024685.4(BBS10):c.1572A>G (p.Thr524=)	BBS10-related disorder [RCV003970593]\|Bardet-Biedl syndrome [RCV001421194]	likely benign	12	76346413	76346413	Human	2	name , trait , alternate_id
15131505	CV769309	single nucleotide variant	NM_024685.4(BBS10):c.1566G>A (p.Thr522=)	BBS10-related disorder [RCV004740511]\|Bardet-Biedl syndrome [RCV000942235]	likely benign	12	76346419	76346419	Human	2	name , trait , alternate_id
15110354	CV784473	single nucleotide variant	NM_024685.4(BBS10):c.1620A>G (p.Leu540=)	Bardet-Biedl syndrome [RCV001465425]	likely benign	12	76346365	76346365	Human	1	name
26909930	CV856757	single nucleotide variant	NM_024685.4(BBS10):c.206T>A (p.Val69Glu)	Bardet-Biedl syndrome [RCV002554702]\|Retinal dystrophy [RCV001074159]	likely pathogenic\|uncertain significance	12	76347779	76347779	Human	3	name
28867292	CV870462	single nucleotide variant	NM_024685.4(BBS10):c.1992A>G (p.Ala664=)	BBS10-related disorder [RCV004740570]\|Bardet-Biedl syndrome 10 [RCV001111719]\|Bardet-Biedl syndrome [RCV001438649]	likely benign\|uncertain significance	12	76345993	76345993	Human	2	name , trait , alternate_id
28867976	CV870464	single nucleotide variant	NM_024685.4(BBS10):c.1566G>T (p.Thr522=)	Bardet-Biedl syndrome 10 [RCV001112171]	uncertain significance	12	76346419	76346419	Human	1	name
28873683	CV870468	single nucleotide variant	NM_024685.4(BBS10):c.1203A>T (p.Gly401=)	Bardet-Biedl syndrome 10 [RCV001115137]	uncertain significance	12	76346782	76346782	Human	1	name
28873685	CV870469	single nucleotide variant	NM_024685.4(BBS10):c.1164C>T (p.Ser388=)	BBS10-related disorder [RCV004740573]\|Bardet-Biedl syndrome 10 [RCV001115138]\|Bardet-Biedl syndrome [RCV002069852]	likely benign\|uncertain significance	12	76346821	76346821	Human	2	name , trait , alternate_id
38461781	CV948167	single nucleotide variant	NM_024685.4(BBS10):c.226C>T (p.Leu76Phe)	BBS10-related disorder [RCV004740622]\|Bardet-Biedl syndrome 10 [RCV001836182]\|Bardet-Biedl syndrome [RCV001229600]\|not specified [RCV003331085]	uncertain significance	12	76347759	76347759	Human	2	name , trait , alternate_id
38480716	CV948168	single nucleotide variant	NM_024685.4(BBS10):c.136C>T (p.Leu46Phe)	Bardet-Biedl syndrome [RCV001234821]	uncertain significance	12	76348223	76348223	Human	1	name
40905528	CV979294	single nucleotide variant	NM_024685.4(BBS10):c.2157A>G (p.Ser719=)	Bardet-Biedl syndrome 10 [RCV001278737]	uncertain significance	12	76345828	76345828	Human	1	name
40905531	CV979297	single nucleotide variant	NM_024685.4(BBS10):c.1684T>C (p.Leu562=)	BBS10-related disorder [RCV003928810]\|Bardet-Biedl syndrome 10 [RCV001278740]\|Bardet-Biedl syndrome [RCV001504055]	likely benign\|uncertain significance	12	76346301	76346301	Human	2	name , trait , alternate_id
40905532	CV979298	single nucleotide variant	NM_024685.4(BBS10):c.1530A>G (p.Thr510=)	Bardet-Biedl syndrome 10 [RCV001278741]	uncertain significance	12	76346455	76346455	Human	1	name
126733114	CV1000829	single nucleotide variant	NM_024685.4(BBS10):c.686C>T (p.Pro229Leu)	Bardet-Biedl syndrome 10 [RCV005002003]\|Retinal dystrophy [RCV004815330]\|not provided [RCV001311000]	likely pathogenic	12	76347299	76347299	Human	3	name
126763208	CV1010613	single nucleotide variant	NM_024685.4(BBS10):c.932C>T (p.Ser311Phe)	Bardet-Biedl syndrome [RCV001319159]	likely pathogenic\|uncertain significance	12	76347053	76347053	Human	1	name
126742442	CV1010614	single nucleotide variant	NM_024685.4(BBS10):c.450T>G (p.Ser150Arg)	Bardet-Biedl syndrome [RCV001325484]	uncertain significance	12	76347535	76347535	Human	1	name
126740917	CV1021113	insertion	NM_024685.4(BBS10):c.15_16insC (p.Ala6fs)	Bardet-Biedl syndrome [RCV001387508]	pathogenic	12	76348343	76348344	Human		name
126728214	CV1031128	single nucleotide variant	NM_024685.4(BBS10):c.572C>T (p.Ser191Leu)	Bardet-Biedl syndrome [RCV001348871]	uncertain significance	12	76347413	76347413	Human	1	name
126918837	CV1048123	single nucleotide variant	NM_024685.4(BBS10):c.337A>G (p.Ile113Val)	Bardet-Biedl syndrome 10 [RCV001831224]\|Bardet-Biedl syndrome [RCV001361959]	uncertain significance	12	76347648	76347648	Human	2	name
126921992	CV1048124	single nucleotide variant	NM_024685.4(BBS10):c.326T>C (p.Met109Thr)	Bardet-Biedl syndrome [RCV001364139]	uncertain significance	12	76347659	76347659	Human	1	name
127263833	CV1062716	single nucleotide variant	NM_024685.4(BBS10):c.439C>T (p.Gln147Ter)	Bardet-Biedl syndrome [RCV001381069]	pathogenic	12	76347546	76347546	Human	1	name
150412347	CV1185943	single nucleotide variant	NM_024685.4(BBS10):c.955G>C (p.Val319Leu)	Bardet-Biedl syndrome 10 [RCV001559162]\|Optic atrophy [RCV004815569]	uncertain significance	12	76347030	76347030	Human	3	name
151662459	CV1330377	single nucleotide variant	NM_024685.4(BBS10):c.788C>T (p.Thr263Ile)	Bardet-Biedl syndrome 10 [RCV001823849]	uncertain significance	12	76347197	76347197	Human	1	name
151787203	CV1345599	single nucleotide variant	NM_024685.4(BBS10):c.544G>C (p.Val182Leu)	Bardet-Biedl syndrome [RCV001897816]	uncertain significance	12	76347441	76347441	Human	1	name
151786215	CV1348887	single nucleotide variant	NM_024685.4(BBS10):c.946C>G (p.Pro316Ala)	Bardet-Biedl syndrome [RCV001897717]	uncertain significance	12	76347039	76347039	Human	1	name
151751881	CV1357460	single nucleotide variant	NM_024685.4(BBS10):c.800T>A (p.Leu267His)	Bardet-Biedl syndrome [RCV001894415]	uncertain significance	12	76347185	76347185	Human	1	name
151865830	CV1357933	single nucleotide variant	NM_024685.4(BBS10):c.653T>A (p.Phe218Tyr)	Bardet-Biedl syndrome [RCV001905870]	uncertain significance	12	76347332	76347332	Human	1	name
151861193	CV1374191	single nucleotide variant	NM_024685.4(BBS10):c.745C>T (p.Arg249Cys)	Bardet-Biedl syndrome [RCV001938566]	uncertain significance	12	76347240	76347240	Human	1	name
151803410	CV1375489	single nucleotide variant	NM_024685.4(BBS10):c.343A>G (p.Thr115Ala)	Bardet-Biedl syndrome [RCV001953137]	uncertain significance	12	76347642	76347642	Human	1	name
151819233	CV1385829	single nucleotide variant	NM_024685.4(BBS10):c.329G>A (p.Cys110Tyr)	Bardet-Biedl syndrome [RCV002013206]	uncertain significance	12	76347656	76347656	Human	1	name
151854104	CV1390763	duplication	NM_024685.4(BBS10):c.1453dup (p.Thr485fs)	Bardet-Biedl syndrome [RCV001958379]\|Retinal dystrophy [RCV004816806]	pathogenic	12	76346531	76346532	Human	3	name
151735754	CV1391425	single nucleotide variant	NM_024685.4(BBS10):c.350G>A (p.Gly117Glu)	Bardet-Biedl syndrome [RCV002005281]	uncertain significance	12	76347635	76347635	Human	1	name
151762063	CV1393444	single nucleotide variant	NM_024685.4(BBS10):c.963T>G (p.Tyr321Ter)	Bardet-Biedl syndrome 10 [RCV003464314]\|Bardet-Biedl syndrome [RCV001949264]	pathogenic\|likely pathogenic	12	76347022	76347022	Human	2	name
151744958	CV1400931	single nucleotide variant	NM_024685.4(BBS10):c.791T>G (p.Ile264Ser)	Bardet-Biedl syndrome [RCV002022712]	uncertain significance	12	76347194	76347194	Human	1	name
151778010	CV1411898	single nucleotide variant	NM_024685.4(BBS10):c.708A>G (p.Ile236Met)	Bardet-Biedl syndrome [RCV001930157]	uncertain significance	12	76347277	76347277	Human	1	name
151843337	CV1418431	single nucleotide variant	NM_024685.4(BBS10):c.397C>G (p.Leu133Val)	Bardet-Biedl syndrome [RCV001903118]	uncertain significance	12	76347588	76347588	Human	1	name
151825192	CV1429492	single nucleotide variant	NM_024685.4(BBS10):c.409C>T (p.Gln137Ter)	BBS10-related disorder [RCV003408005]\|Bardet-Biedl syndrome [RCV001993164]	pathogenic	12	76347576	76347576	Human	2	name , trait , alternate_id
151711201	CV1443756	single nucleotide variant	NM_024685.4(BBS10):c.883A>T (p.Lys295Ter)	Bardet-Biedl syndrome [RCV001908043]	pathogenic	12	76347102	76347102	Human	1	name
151804314	CV1444151	single nucleotide variant	NM_024685.4(BBS10):c.904C>T (p.His302Tyr)	Bardet-Biedl syndrome 10 [RCV005002645]\|Bardet-Biedl syndrome [RCV001917996]	uncertain significance	12	76347081	76347081	Human	2	name
151885463	CV1444949	duplication	NM_024685.4(BBS10):c.2044dup (p.Met682fs)	Bardet-Biedl syndrome [RCV001941953]	pathogenic	12	76345940	76345941	Human	1	name
151782034	CV1458416	single nucleotide variant	NM_024685.4(BBS10):c.391C>T (p.Gln131Ter)	Bardet-Biedl syndrome [RCV001951171]	pathogenic	12	76347594	76347594	Human	1	name
151787651	CV1471378	deletion	NM_024685.4(BBS10):c.1834del (p.Tyr612fs)	Bardet-Biedl syndrome [RCV001972719]	pathogenic	12	76346151	76346151	Human	1	name
151887514	CV1472005	single nucleotide variant	NM_024685.4(BBS10):c.925C>T (p.Leu309Phe)	Bardet-Biedl syndrome [RCV002000897]	uncertain significance	12	76347060	76347060	Human	1	name
151752279	CV1473778	single nucleotide variant	NM_024685.4(BBS10):c.327G>A (p.Met109Ile)	BBS10-related disorder [RCV004741102]\|Bardet-Biedl syndrome [RCV001872374]\|Inborn genetic diseases [RCV004601549]	likely benign\|uncertain significance	12	76347658	76347658	Human	3	name , trait , alternate_id
151743178	CV1478268	single nucleotide variant	NM_024685.4(BBS10):c.563A>T (p.Lys188Ile)	BBS10-related disorder [RCV003418284]\|Bardet-Biedl syndrome [RCV002006019]	uncertain significance	12	76347422	76347422	Human	2	name , trait , alternate_id
151882225	CV1484523	single nucleotide variant	NM_024685.4(BBS10):c.793C>T (p.Gln265Ter)	Bardet-Biedl syndrome 10 [RCV003475186]\|Bardet-Biedl syndrome [RCV001941247]	pathogenic\|likely pathogenic	12	76347192	76347192	Human	2	name
151786179	CV1504421	deletion	NM_024685.4(BBS10):c.1330del (p.Ser444fs)	Bardet-Biedl syndrome [RCV001951568]	pathogenic	12	76346655	76346655	Human	1	name
151730698	CV1516010	single nucleotide variant	NM_024685.4(BBS10):c.368G>A (p.Cys123Tyr)	Bardet-Biedl syndrome [RCV001984171]	uncertain significance	12	76347617	76347617	Human	1	name
151811043	CV1516665	single nucleotide variant	NM_024685.4(BBS10):c.691T>C (p.Ser231Pro)	Bardet-Biedl syndrome [RCV002012436]	uncertain significance	12	76347294	76347294	Human	1	name
8556126	CV16370	single nucleotide variant	NM_024685.4(BBS10):c.931T>G (p.Ser311Ala)	Bardet-Biedl syndrome 10 [RCV000001394]\|Bardet-Biedl syndrome [RCV001328242]\|Retinal dystrophy [RCV004814790]\|not provided [RCV001093324]	pathogenic	12	76347054	76347054	Human	4	name
153304189	CV1690646	single nucleotide variant	NM_024685.4(BBS10):c.411G>T (p.Gln137His)	BBS10-related disorder [RCV003395441]\|Bardet-Biedl syndrome [RCV003096101]\|not provided [RCV002269690]	uncertain significance	12	76347574	76347574	Human	2	name , trait , alternate_id
155645243	CV1708911	single nucleotide variant	NM_024685.4(BBS10):c.569T>C (p.Ile190Thr)	Bardet-Biedl syndrome 10 [RCV002291522]	likely pathogenic	12	76347416	76347416	Human	1	name
9688582	CV177505	deletion	NM_024685.4(BBS10):c.1091del (p.Asn364fs)	Bardet-Biedl syndrome 1 [RCV001004383]\|Bardet-Biedl syndrome 10 [RCV000169072]\|Bardet-Biedl syndrome [RCV000152827]\|not provided [RCV000723707]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters	12	76346894	76346894	Human	3	name
155800601	CV1863724	single nucleotide variant	NM_024685.4(BBS10):c.742T>C (p.Tyr248His)	not provided [RCV002474147]	uncertain significance	12	76347243	76347243	Human		name
10041640	CV186851	duplication	NM_024685.4(BBS10):c.1184dup (p.His395fs)	Bardet-Biedl syndrome 10 [RCV000169315]\|Bardet-Biedl syndrome [RCV001174881]	pathogenic\|likely pathogenic	12	76346800	76346801	Human	2	name
156046795	CV1868765	single nucleotide variant	NM_024685.4(BBS10):c.752C>A (p.Ala251Glu)	Bardet-Biedl syndrome [RCV003052856]	uncertain significance	12	76347233	76347233	Human	1	name
156319031	CV1876231	single nucleotide variant	NM_024685.4(BBS10):c.700A>G (p.Arg234Gly)	Bardet-Biedl syndrome [RCV003062938]	uncertain significance	12	76347285	76347285	Human	1	name
156348820	CV1889565	single nucleotide variant	NM_024685.4(BBS10):c.301A>G (p.Thr101Ala)	Bardet-Biedl syndrome [RCV003090803]	uncertain significance	12	76347684	76347684	Human	1	name
156323994	CV1908363	single nucleotide variant	NM_024685.4(BBS10):c.650A>G (p.His217Arg)	Bardet-Biedl syndrome [RCV002579436]	uncertain significance	12	76347335	76347335	Human	1	name
156404189	CV1916466	single nucleotide variant	NM_024685.4(BBS10):c.373C>T (p.Arg125Trp)	Bardet-Biedl syndrome [RCV002606043]	uncertain significance	12	76347612	76347612	Human	1	name
156024122	CV1921191	single nucleotide variant	NM_024685.4(BBS10):c.796C>G (p.Pro266Ala)	Bardet-Biedl syndrome [RCV002619546]	uncertain significance	12	76347189	76347189	Human	1	name
156056599	CV1934178	single nucleotide variant	NM_024685.4(BBS10):c.706A>T (p.Ile236Leu)	Bardet-Biedl syndrome [RCV002638131]	uncertain significance	12	76347279	76347279	Human	1	name
156440717	CV1943780	single nucleotide variant	NM_024685.4(BBS10):c.655G>A (p.Val219Ile)	Bardet-Biedl syndrome 10 [RCV005003012]\|Bardet-Biedl syndrome [RCV003110755]	uncertain significance	12	76347330	76347330	Human	2	name
156448984	CV1944235	single nucleotide variant	NM_024685.4(BBS10):c.317A>C (p.Asp106Ala)	Bardet-Biedl syndrome 10 [RCV005011213]\|Bardet-Biedl syndrome [RCV003121093]	uncertain significance	12	76347668	76347668	Human	2	name
156234006	CV1952694	single nucleotide variant	NM_024685.4(BBS10):c.881C>T (p.Thr294Ile)	Bardet-Biedl syndrome [RCV002575982]	uncertain significance	12	76347104	76347104	Human	1	name
156339748	CV1961600	single nucleotide variant	NM_024685.4(BBS10):c.490A>C (p.Thr164Pro)	Bardet-Biedl syndrome 10 [RCV005415644]\|Bardet-Biedl syndrome [RCV002580442]	uncertain significance	12	76347495	76347495	Human	2	name
156330445	CV1990983	single nucleotide variant	NM_024685.4(BBS10):c.671G>C (p.Gly224Ala)	Bardet-Biedl syndrome [RCV002630899]	uncertain significance	12	76347314	76347314	Human	1	name
156289569	CV2001676	single nucleotide variant	NM_024685.4(BBS10):c.797C>T (p.Pro266Leu)	Bardet-Biedl syndrome [RCV002670711]	uncertain significance	12	76347188	76347188	Human	1	name
156137764	CV2006464	single nucleotide variant	NM_024685.4(BBS10):c.473C>G (p.Ser158Trp)	Bardet-Biedl syndrome [RCV002663453]	uncertain significance	12	76347512	76347512	Human	1	name
155913130	CV2021806	deletion	NM_024685.4(BBS10):c.1272del (p.Leu424fs)	Bardet-Biedl syndrome [RCV002726946]	pathogenic	12	76346713	76346713	Human	1	name
155971690	CV2024854	single nucleotide variant	NM_024685.4(BBS10):c.648C>A (p.Asp216Glu)	Bardet-Biedl syndrome [RCV002754922]	uncertain significance	12	76347337	76347337	Human	1	name
156201866	CV2034771	single nucleotide variant	NM_024685.4(BBS10):c.340C>G (p.Gln114Glu)	Bardet-Biedl syndrome [RCV002766268]	uncertain significance	12	76347645	76347645	Human	1	name
156142027	CV2044528	single nucleotide variant	NM_024685.4(BBS10):c.655G>T (p.Val219Leu)	Bardet-Biedl syndrome [RCV002800987]	uncertain significance	12	76347330	76347330	Human	1	name
156244956	CV2053280	single nucleotide variant	NM_024685.4(BBS10):c.967G>T (p.Ala323Ser)	Bardet-Biedl syndrome [RCV002791487]	uncertain significance	12	76347018	76347018	Human	1	name
156034802	CV2059343	deletion	NM_024685.4(BBS10):c.1225del (p.Gln409fs)	Bardet-Biedl syndrome [RCV002796206]	pathogenic	12	76346760	76346760	Human	1	name
156026696	CV2078157	single nucleotide variant	NM_024685.4(BBS10):c.647A>C (p.Asp216Ala)	Bardet-Biedl syndrome 10 [RCV005008769]\|Bardet-Biedl syndrome [RCV002866871]\|Inborn genetic diseases [RCV004065000]	uncertain significance	12	76347338	76347338	Human	3	name
156115254	CV2104595	single nucleotide variant	NM_024685.4(BBS10):c.501G>C (p.Arg167Ser)	BBS10-related disorder [RCV004741346]\|Bardet-Biedl syndrome [RCV002927597]	uncertain significance	12	76347484	76347484	Human	2	name , trait , alternate_id
156118747	CV2107441	single nucleotide variant	NM_024685.4(BBS10):c.767G>T (p.Arg256Leu)	Bardet-Biedl syndrome [RCV002914074]\|Inborn genetic diseases [RCV004066256]	uncertain significance	12	76347218	76347218	Human	2	name
156033680	CV2122946	single nucleotide variant	NM_024685.4(BBS10):c.504C>G (p.Ser168Arg)	Bardet-Biedl syndrome [RCV002949339]	uncertain significance	12	76347481	76347481	Human	1	name
156348340	CV2128968	single nucleotide variant	NM_024685.4(BBS10):c.481A>G (p.Lys161Glu)	Bardet-Biedl syndrome [RCV002966104]\|not provided [RCV004790289]	uncertain significance	12	76347504	76347504	Human	1	name
10408661	CV213012	single nucleotide variant	NM_024685.4(BBS10):c.531C>A (p.Tyr177Ter)	Bardet-Biedl syndrome 10 [RCV000409505]\|Bardet-Biedl syndrome [RCV000196568]	pathogenic\|likely pathogenic	12	76347454	76347454	Human	2	name
11039886	CV214076	deletion	NM_024685.4(BBS10):c.1547del (p.Thr516fs)	Bardet-Biedl syndrome 10 [RCV000207760]\|Bardet-Biedl syndrome [RCV003522947]	pathogenic	12	76346438	76346438	Human	2	name
11039879	CV214077	duplication	NM_024685.4(BBS10):c.1024dup (p.Ile342fs)	Bardet-Biedl syndrome 10 [RCV000207540]\|Bardet-Biedl syndrome [RCV003522946]\|not provided [RCV005243158]	pathogenic\|likely pathogenic	12	76346960	76346961	Human	2	name
156338015	CV2179506	single nucleotide variant	NM_024685.4(BBS10):c.455A>G (p.His152Arg)	Bardet-Biedl syndrome [RCV003030126]	uncertain significance	12	76347530	76347530	Human	1	name
156166586	CV2190058	single nucleotide variant	NM_024685.4(BBS10):c.358T>C (p.Trp120Arg)	Bardet-Biedl syndrome [RCV003040897]	uncertain significance	12	76347627	76347627	Human	1	name
156330354	CV2210606	single nucleotide variant	NM_024685.4(BBS10):c.851A>G (p.Gln284Arg)	Inborn genetic diseases [RCV002673237]	uncertain significance	12	76347134	76347134	Human	1	name
11350609	CV237357	single nucleotide variant	NM_024685.4(BBS10):c.765G>A (p.Met255Ile)	BBS10-related disorder [RCV003417800]\|Bardet-Biedl syndrome 1 [RCV000625184]\|Bardet-Biedl syndrome 10 [RCV000667212]\|Bardet-Biedl syndrome [RCV000801717]\|not provided [RCV000224072]\|not specified [RCV001706242]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	76347220	76347220	Human	3	name , trait , alternate_id
243062511	CV2404957	single nucleotide variant	NM_024685.4(BBS10):c.923T>C (p.Leu308Ser)	Bardet-Biedl syndrome 10 [RCV003140507]	likely pathogenic	12	76347062	76347062	Human	1	name
243064893	CV2409453	single nucleotide variant	NM_024685.4(BBS10):c.930A>G (p.Ile310Met)	Bardet-Biedl syndrome 10 [RCV003143743]	uncertain significance	12	76347055	76347055	Human	1	name
329351113	CV2476264	deletion	NM_024685.4(BBS10):c.1227del (p.Gln409fs)	Bardet-Biedl syndrome [RCV003222505]	pathogenic	12	76346758	76346758	Human	1	name
329351133	CV2476282	deletion	NM_024685.4(BBS10):c.1702del (p.Thr568fs)	Bardet-Biedl syndrome [RCV003222523]	pathogenic	12	76346283	76346283	Human	1	name
329351145	CV2476295	duplication	NM_024685.4(BBS10):c.1527dup (p.Thr510fs)	Bardet-Biedl syndrome [RCV003222536]	pathogenic	12	76346457	76346458	Human	1	name
329351514	CV2518058	single nucleotide variant	NM_024685.4(BBS10):c.733T>G (p.Phe245Val)	Bardet-Biedl syndrome [RCV003224779]	likely pathogenic\|uncertain significance	12	76347252	76347252	Human	1	name
401829219	CV2668635	single nucleotide variant	NM_024685.4(BBS10):c.924G>T (p.Leu308Phe)	Bardet-Biedl syndrome 10 [RCV003326727]\|Bardet-Biedl syndrome [RCV004690397]	pathogenic\|likely pathogenic	12	76347061	76347061	Human	2	name
401750277	CV2701114	single nucleotide variant	NM_024685.4(BBS10):c.685C>A (p.Pro229Thr)	Bardet-Biedl syndrome [RCV003779961]\|Inborn genetic diseases [RCV003276700]\|not specified [RCV004690398]	uncertain significance	12	76347300	76347300	Human	2	name
401797797	CV2742347	duplication	NM_024685.4(BBS10):c.1330dup (p.Ser444fs)	Bardet-Biedl syndrome 10 [RCV003324640]	pathogenic	12	76346654	76346655	Human	1	name
401946341	CV2833690	single nucleotide variant	NM_024685.4(BBS10):c.899A>C (p.His300Pro)	Bardet-Biedl syndrome 10 [RCV003465025]\|not specified [RCV004701073]	likely pathogenic\|uncertain significance	12	76347086	76347086	Human	1	name
401946344	CV2833691	single nucleotide variant	NM_024685.4(BBS10):c.484G>T (p.Glu162Ter)	Bardet-Biedl syndrome 10 [RCV003465026]	likely pathogenic	12	76347501	76347501	Human	1	name
401946348	CV2833693	deletion	NM_024685.4(BBS10):c.1676del (p.Tyr559fs)	Bardet-Biedl syndrome 10 [RCV003465028]	likely pathogenic	12	76346309	76346309	Human	1	name
401946351	CV2833698	deletion	NM_024685.4(BBS10):c.1076del (p.Gln359fs)	Bardet-Biedl syndrome 10 [RCV003465033]	likely pathogenic	12	76346909	76346909	Human	1	name
401946515	CV2833699	deletion	NM_024685.4(BBS10):c.1606del (p.Tyr536fs)	Bardet-Biedl syndrome 10 [RCV003465034]	likely pathogenic	12	76346379	76346379	Human	1	name
401946500	CV2833704	duplication	NM_024685.4(BBS10):c.1860dup (p.Cys621fs)	Bardet-Biedl syndrome 10 [RCV003465039]	likely pathogenic	12	76346124	76346125	Human	1	name
401949551	CV2833706	single nucleotide variant	NM_024685.4(BBS10):c.992T>C (p.Val331Ala)	Bardet-Biedl syndrome 10 [RCV003474311]\|not specified [RCV004701074]	likely pathogenic\|uncertain significance	12	76346993	76346993	Human	1	name
401949554	CV2833708	duplication	NM_024685.4(BBS10):c.1701dup (p.Thr568fs)	Bardet-Biedl syndrome 10 [RCV003474313]\|Bardet-Biedl syndrome [RCV003633720]	pathogenic\|likely pathogenic	12	76346283	76346284	Human	2	name
401949567	CV2833709	single nucleotide variant	NM_024685.4(BBS10):c.859C>T (p.Gln287Ter)	Bardet-Biedl syndrome 10 [RCV003474314]	likely pathogenic	12	76347126	76347126	Human	1	name
401949568	CV2833710	insertion	NM_024685.4(BBS10):c.9_10insAT (p.Ser4fs)	Bardet-Biedl syndrome 10 [RCV003474315]\|Bardet-Biedl syndrome [RCV003523197]	pathogenic\|likely pathogenic	12	76348349	76348350	Human	2	name
401949555	CV2833711	duplication	NM_024685.4(BBS10):c.2024dup (p.Thr676fs)	Bardet-Biedl syndrome 10 [RCV003474316]	likely pathogenic	12	76345960	76345961	Human	1	name
401949558	CV2833714	single nucleotide variant	NM_024685.4(BBS10):c.641T>A (p.Val214Glu)	Bardet-Biedl syndrome 10 [RCV003474319]	likely pathogenic	12	76347344	76347344	Human	1	name
404993407	CV2898913	single nucleotide variant	NM_024685.4(BBS10):c.968C>T (p.Ala323Val)	Bardet-Biedl syndrome [RCV003525334]	likely pathogenic	12	76347017	76347017	Human	1	name
405065366	CV2905963	deletion	NM_024685.4(BBS10):c.1068del (p.Ser358fs)	Bardet-Biedl syndrome [RCV003523453]	pathogenic	12	76346917	76346917	Human	1	name
405079411	CV2919461	duplication	NM_024685.4(BBS10):c.1532dup (p.Thr512fs)	Bardet-Biedl syndrome [RCV003524436]	pathogenic	12	76346452	76346453	Human	1	name
405060320	CV2930532	single nucleotide variant	NM_024685.4(BBS10):c.415C>T (p.Gln139Ter)	Bardet-Biedl syndrome [RCV003522913]	pathogenic	12	76347570	76347570	Human	1	name
405090893	CV2988968	duplication	NM_024685.4(BBS10):c.1338dup (p.Ile447fs)	Bardet-Biedl syndrome [RCV003634819]	pathogenic	12	76346646	76346647	Human	1	name
405093242	CV3002717	deletion	NM_024685.4(BBS10):c.1264del (p.Arg422fs)	Bardet-Biedl syndrome [RCV003635048]	pathogenic	12	76346721	76346721	Human	1	name
405095224	CV3012503	single nucleotide variant	NM_024685.4(BBS10):c.575A>C (p.Gln192Pro)	Bardet-Biedl syndrome [RCV003635237]	uncertain significance	12	76347410	76347410	Human	1	name
405070227	CV3023153	single nucleotide variant	NM_024685.4(BBS10):c.692C>G (p.Ser231Ter)	Bardet-Biedl syndrome [RCV003633076]	pathogenic	12	76347293	76347293	Human	1	name
405253082	CV3178191	deletion	NM_024685.4(BBS10):c.1399del (p.Arg467fs)	Bardet-Biedl syndrome [RCV003870972]	pathogenic	12	76346586	76346586	Human	1	name
405705723	CV3301617	single nucleotide variant	NM_024685.4(BBS10):c.298A>G (p.Ile100Val)	BBS10-related disorder [RCV004738960]\|Inborn genetic diseases [RCV004426044]	likely benign\|uncertain significance	12	76347687	76347687	Human	2	name , trait , alternate_id
405705736	CV3301619	single nucleotide variant	NM_024685.4(BBS10):c.892A>G (p.Met298Val)	Inborn genetic diseases [RCV004426046]	uncertain significance	12	76347093	76347093	Human	1	name
596944229	CV3408775	duplication	NM_024685.4(BBS10):c.1456dup (p.Tyr486fs)	Retinal dystrophy [RCV004817424]	pathogenic	12	76346528	76346529	Human	2	name
407477396	CV3495113	single nucleotide variant	NM_024685.4(BBS10):c.686C>G (p.Pro229Arg)	Bardet-Biedl syndrome 10 [RCV005003784]\|not specified [RCV004691015]	likely pathogenic\|uncertain significance	12	76347299	76347299	Human	1	name
407574089	CV3498438	single nucleotide variant	NM_024685.4(BBS10):c.431T>C (p.Ile144Thr)	not specified [RCV004702913]	uncertain significance	12	76347554	76347554	Human		name
408365298	CV3501518	single nucleotide variant	NM_024685.4(BBS10):c.703A>T (p.Ile235Phe)	Bardet-Biedl syndrome 10 [RCV004720727]	uncertain significance	12	76347282	76347282	Human	1	name
408378977	CV3503981	single nucleotide variant	NM_024685.4(BBS10):c.735T>G (p.Phe245Leu)	BBS10-related disorder [RCV004728209]	uncertain significance	12	76347250	76347250	Human		name , trait , alternate_id
408371067	CV3504753	single nucleotide variant	NM_024685.4(BBS10):c.829C>G (p.Leu277Val)	BBS10-related disorder [RCV004724434]	uncertain significance	12	76347156	76347156	Human		name , trait , alternate_id
408376126	CV3505561	single nucleotide variant	NM_024685.4(BBS10):c.893T>A (p.Met298Lys)	BBS10-related disorder [RCV004726565]	uncertain significance	12	76347092	76347092	Human		name , trait , alternate_id
408370166	CV3508044	single nucleotide variant	NM_024685.4(BBS10):c.944A>G (p.Gln315Arg)	BBS10-related disorder [RCV004739068]	uncertain significance	12	76347041	76347041	Human		name , trait , alternate_id
408370196	CV3508812	single nucleotide variant	NM_024685.4(BBS10):c.442T>G (p.Tyr148Asp)	BBS10-related disorder [RCV004739158]	uncertain significance	12	76347543	76347543	Human		name , trait , alternate_id
408370499	CV3511190	single nucleotide variant	NM_024685.4(BBS10):c.952T>G (p.Leu318Val)	BBS10-related disorder [RCV004739862]	uncertain significance	12	76347033	76347033	Human		name , trait , alternate_id
408370881	CV3514480	single nucleotide variant	NM_024685.4(BBS10):c.544G>A (p.Val182Met)	BBS10-related disorder [RCV004740174]	uncertain significance	12	76347441	76347441	Human		name , trait , alternate_id
408371562	CV3516129	single nucleotide variant	NM_024685.4(BBS10):c.331G>A (p.Glu111Lys)	BBS10-related disorder [RCV004740839]	uncertain significance	12	76347654	76347654	Human		name , trait , alternate_id
12739764	CV358107	deletion	NM_024685.4(BBS10):c.1959del (p.Pro655fs)	Bardet-Biedl syndrome 10 [RCV000410373]\|Bardet-Biedl syndrome [RCV001216227]	pathogenic\|likely pathogenic	12	76346026	76346026	Human	2	name
12739661	CV358108	deletion	NM_024685.4(BBS10):c.1724del (p.Pro575fs)	Bardet-Biedl syndrome 10 [RCV000410139]\|Bardet-Biedl syndrome [RCV003633500]	pathogenic\|likely pathogenic	12	76346261	76346261	Human	2	name
12740143	CV358111	deletion	NM_024685.4(BBS10):c.1542del (p.Asp515fs)	Bardet-Biedl syndrome 10 [RCV000411271]\|Bardet-Biedl syndrome [RCV001861388]	pathogenic\|likely pathogenic	12	76346443	76346443	Human	2	name
12740516	CV358112	deletion	NM_024685.4(BBS10):c.1533del (p.Thr512fs)	Bardet-Biedl syndrome 10 [RCV000412206]	likely pathogenic	12	76346452	76346452	Human	1	name
12739317	CV358116	deletion	NM_024685.4(BBS10):c.1056del (p.Pro353fs)	Bardet-Biedl syndrome 10 [RCV000409349]	likely pathogenic	12	76346929	76346929	Human	1	name
12740127	CV358117	deletion	NM_024685.4(BBS10):c.1024del (p.Ile342fs)	Bardet-Biedl syndrome 10 [RCV000411241]	likely pathogenic	12	76346961	76346961	Human	1	name
12740228	CV358120	single nucleotide variant	NM_024685.4(BBS10):c.574C>T (p.Gln192Ter)	Bardet-Biedl syndrome 10 [RCV000411485]\|Bardet-Biedl syndrome [RCV002524624]	pathogenic\|likely pathogenic	12	76347411	76347411	Human	2	name
12739196	CV358122	single nucleotide variant	NM_024685.4(BBS10):c.378G>A (p.Trp126Ter)	Bardet-Biedl syndrome 10 [RCV000409088]	likely pathogenic	12	76347607	76347607	Human	1	name
12739704	CV358124	single nucleotide variant	NM_024685.4(BBS10):c.361A>T (p.Lys121Ter)	Bardet-Biedl syndrome 10 [RCV000410231]	likely pathogenic	12	76347624	76347624	Human	1	name
597626588	CV3642946	single nucleotide variant	NM_024685.4(BBS10):c.929T>C (p.Ile310Thr)	Inborn genetic diseases [RCV004965150]	uncertain significance	12	76347056	76347056	Human	1	name
597626591	CV3642947	single nucleotide variant	NM_024685.4(BBS10):c.301A>C (p.Thr101Pro)	Inborn genetic diseases [RCV004965151]	uncertain significance	12	76347684	76347684	Human	1	name
597727453	CV3707325	deletion	NM_024685.4(BBS10):c.1669del (p.Ile557fs)	Bardet-Biedl syndrome 10 [RCV005011585]	likely pathogenic	12	76346316	76346316	Human	1	name
597673331	CV3707334	deletion	NM_024685.4(BBS10):c.1122del (p.Ile375fs)	Bardet-Biedl syndrome 10 [RCV005005361]	likely pathogenic	12	76346863	76346863	Human	1	name
597727512	CV3707341	single nucleotide variant	NM_024685.4(BBS10):c.905A>G (p.His302Arg)	Bardet-Biedl syndrome 10 [RCV005011592]	uncertain significance	12	76347080	76347080	Human	1	name
597727518	CV3707342	single nucleotide variant	NM_024685.4(BBS10):c.877A>T (p.Lys293Ter)	Bardet-Biedl syndrome 10 [RCV005011593]	likely pathogenic	12	76347108	76347108	Human	1	name
597673368	CV3707343	single nucleotide variant	NM_024685.4(BBS10):c.820G>A (p.Glu274Lys)	Bardet-Biedl syndrome 10 [RCV005005365]	uncertain significance	12	76347165	76347165	Human	1	name
597673386	CV3707345	single nucleotide variant	NM_024685.4(BBS10):c.706A>G (p.Ile236Val)	Bardet-Biedl syndrome 10 [RCV005005367]	uncertain significance	12	76347279	76347279	Human	1	name
597727536	CV3707346	single nucleotide variant	NM_024685.4(BBS10):c.702G>T (p.Arg234Ser)	Bardet-Biedl syndrome 10 [RCV005011595]	uncertain significance	12	76347283	76347283	Human	1	name
597727546	CV3707347	single nucleotide variant	NM_024685.4(BBS10):c.696T>G (p.Asp232Glu)	Bardet-Biedl syndrome 10 [RCV005011596]	uncertain significance	12	76347289	76347289	Human	1	name
597673395	CV3707348	single nucleotide variant	NM_024685.4(BBS10):c.688G>A (p.Val230Ile)	Bardet-Biedl syndrome 10 [RCV005005368]	uncertain significance	12	76347297	76347297	Human	1	name
597727554	CV3707350	single nucleotide variant	NM_024685.4(BBS10):c.659A>C (p.Glu220Ala)	Bardet-Biedl syndrome 10 [RCV005011597]	uncertain significance	12	76347326	76347326	Human	1	name
597727571	CV3707352	single nucleotide variant	NM_024685.4(BBS10):c.582G>T (p.Met194Ile)	Bardet-Biedl syndrome 10 [RCV005011599]	uncertain significance	12	76347403	76347403	Human	1	name
597727582	CV3707354	single nucleotide variant	NM_024685.4(BBS10):c.472T>C (p.Ser158Pro)	Bardet-Biedl syndrome 10 [RCV005011600]	uncertain significance	12	76347513	76347513	Human	1	name
597673414	CV3707355	single nucleotide variant	NM_024685.4(BBS10):c.445C>G (p.Leu149Val)	Bardet-Biedl syndrome 10 [RCV005005370]	uncertain significance	12	76347540	76347540	Human	1	name
597673424	CV3707356	single nucleotide variant	NM_024685.4(BBS10):c.443A>T (p.Tyr148Phe)	Bardet-Biedl syndrome 10 [RCV005005371]	uncertain significance	12	76347542	76347542	Human	1	name
597727590	CV3707357	single nucleotide variant	NM_024685.4(BBS10):c.433A>G (p.Met145Val)	Bardet-Biedl syndrome 10 [RCV005011601]	uncertain significance	12	76347552	76347552	Human	1	name
597673432	CV3707358	single nucleotide variant	NM_024685.4(BBS10):c.428G>A (p.Gly143Asp)	Bardet-Biedl syndrome 10 [RCV005005372]	uncertain significance	12	76347557	76347557	Human	1	name
597727598	CV3707359	single nucleotide variant	NM_024685.4(BBS10):c.416A>C (p.Gln139Pro)	Bardet-Biedl syndrome 10 [RCV005011602]	uncertain significance	12	76347569	76347569	Human	1	name
597727608	CV3707360	single nucleotide variant	NM_024685.4(BBS10):c.404C>T (p.Thr135Met)	Bardet-Biedl syndrome 10 [RCV005011603]	uncertain significance	12	76347581	76347581	Human	1	name
597727616	CV3707361	single nucleotide variant	NM_024685.4(BBS10):c.404C>A (p.Thr135Lys)	Bardet-Biedl syndrome 10 [RCV005011604]	uncertain significance	12	76347581	76347581	Human	1	name
597727630	CV3707363	single nucleotide variant	NM_024685.4(BBS10):c.317A>T (p.Asp106Val)	Bardet-Biedl syndrome 10 [RCV005011605]	uncertain significance	12	76347668	76347668	Human	1	name
597858910	CV3788520	duplication	NM_024685.4(BBS10):c.1141dup (p.Tyr381fs)	Bardet-Biedl syndrome [RCV005133195]	pathogenic	12	76346843	76346844	Human	1	name
597886956	CV3808966	deletion	NM_024685.4(BBS10):c.1403del (p.Pro468fs)	Bardet-Biedl syndrome [RCV005161884]	pathogenic	12	76346582	76346582	Human	1	name
597886769	CV3815959	single nucleotide variant	NM_024685.4(BBS10):c.973G>A (p.Val325Met)	Bardet-Biedl syndrome [RCV005161711]	uncertain significance	12	76347012	76347012	Human	1	name
598223373	CV3892163	deletion	NM_024685.4(BBS10):c.1266del (p.Gln423fs)	Bardet-Biedl syndrome 10 [RCV005253502]	likely pathogenic	12	76346719	76346719	Human	1	name
12890082	CV399208	single nucleotide variant	NM_024685.4(BBS10):c.440A>G (p.Gln147Arg)	BBS10-related ciliopathy [RCV005365309]\|BBS10-related disorder [RCV003925312]\|Bardet-Biedl syndrome 10 [RCV001109510]\|Bardet-Biedl syndrome [RCV000473968]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	76347545	76347545	Human	2	name , trait , alternate_id
12894902	CV408745	deletion	NM_024685.4(BBS10):c.2030del (p.Gly677fs)	Bardet-Biedl syndrome 10 [RCV000667693]\|Bardet-Biedl syndrome [RCV000528260]\|not provided [RCV000484565]	pathogenic\|likely pathogenic	12	76345955	76345955	Human	2	name
13214396	CV429451	duplication	NM_024685.4(BBS10):c.1138dup (p.Arg380fs)	Bardet-Biedl syndrome 10 [RCV000501217]	pathogenic	12	76346846	76346847	Human	1	name
13215678	CV429453	single nucleotide variant	NM_024685.4(BBS10):c.389C>T (p.Ser130Phe)	Bardet-Biedl syndrome [RCV002527206]\|not specified [RCV000502804]	uncertain significance	12	76347596	76347596	Human	1	name
13435113	CV431771	single nucleotide variant	NM_024685.4(BBS10):c.590A>G (p.Tyr197Cys)	Bardet-Biedl syndrome 10 [RCV002490846]\|Bardet-Biedl syndrome [RCV001324945]\|Retinitis pigmentosa [RCV000504949]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	12	76347395	76347395	Human	4	name
8569279	CV44416	single nucleotide variant	NM_024685.4(BBS10):c.424G>A (p.Asp142Asn)	Bardet-Biedl syndrome 1 [RCV000709626]\|Bardet-Biedl syndrome 10 [RCV001111799]\|Bardet-Biedl syndrome [RCV001079951]\|not provided [RCV000224320]\|not specified [RCV000152829]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|conflicting data from submitters	12	76347561	76347561	Human	3	name
13508641	CV481238	single nucleotide variant	NM_024685.4(BBS10):c.539G>A (p.Gly180Glu)	Bardet-Biedl syndrome 10 [RCV000578172]\|Bardet-Biedl syndrome [RCV001309745]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	12	76347446	76347446	Human	2	name
13530958	CV512038	deletion	NM_024685.4(BBS10):c.39_46del (p.Ala14fs)	Bardet-Biedl syndrome 10 [RCV001834975]\|Bardet-Biedl syndrome [RCV000810149]\|Inborn genetic diseases [RCV000622924]\|not provided [RCV002223890]	pathogenic	12	76348313	76348320	Human	3	name
13706063	CV537202	single nucleotide variant	NM_024685.4(BBS10):c.901C>G (p.Leu301Val)	Bardet-Biedl syndrome [RCV001861704]\|not provided [RCV000658657]	uncertain significance	12	76347084	76347084	Human	1	name
13783819	CV546711	deletion	NM_024685.4(BBS10):c.1952del (p.Lys651fs)	Bardet-Biedl syndrome 10 [RCV000667159]	likely pathogenic	12	76346033	76346033	Human	1	name
13783785	CV546712	deletion	NM_024685.4(BBS10):c.1949del (p.Gly650fs)	Bardet-Biedl syndrome 10 [RCV000665076]\|Bardet-Biedl syndrome [RCV001204836]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	12	76346036	76346036	Human	2	name
13783827	CV546713	deletion	NM_024685.4(BBS10):c.1338del (p.Phe446fs)	Bardet-Biedl syndrome 10 [RCV000667728]	likely pathogenic	12	76346647	76346647	Human	1	name
13783791	CV546715	deletion	NM_024685.4(BBS10):c.1064del (p.Gln355fs)	Bardet-Biedl syndrome 10 [RCV000665618]\|Bardet-Biedl syndrome [RCV002532043]	pathogenic\|likely pathogenic	12	76346921	76346921	Human	2	name
13783879	CV546729	single nucleotide variant	NM_024685.4(BBS10):c.530A>G (p.Tyr177Cys)	Bardet-Biedl syndrome 10 [RCV000672526]\|Bardet-Biedl syndrome [RCV000735925]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	12	76347455	76347455	Human	2	name
13783890	CV546858	duplication	NM_024685.4(BBS10):c.1447dup (p.Thr483fs)	BBS10-related disorder [RCV004723055]\|Bardet-Biedl syndrome 10 [RCV000673054]\|Bardet-Biedl syndrome [RCV001388931]	pathogenic\|likely pathogenic	12	76346537	76346538	Human	2	name , trait , alternate_id
13783909	CV546861	deletion	NM_024685.4(BBS10):c.1408del (p.Gln470fs)	Bardet-Biedl syndrome 10 [RCV000674904]	likely pathogenic	12	76346577	76346577	Human	1	name
13783801	CV546879	single nucleotide variant	NM_024685.4(BBS10):c.850C>T (p.Gln284Ter)	Bardet-Biedl syndrome 10 [RCV000666092]\|Bardet-Biedl syndrome [RCV001038400]\|not provided [RCV005422930]	pathogenic\|likely pathogenic	12	76347135	76347135	Human	2	name
13783854	CV547027	duplication	NM_024685.4(BBS10):c.1538dup (p.Thr514fs)	Bardet-Biedl syndrome 10 [RCV000670016]	likely pathogenic	12	76346446	76346447	Human	1	name
13783852	CV547048	deletion	NM_024685.4(BBS10):c.27_37del (p.Ser10fs)	Bardet-Biedl syndrome 10 [RCV000669901]\|Bardet-Biedl syndrome [RCV001855531]	pathogenic\|likely pathogenic	12	76348322	76348332	Human	2	name
13783901	CV547213	deletion	NM_024685.4(BBS10):c.1244del (p.His415fs)	Bardet-Biedl syndrome 10 [RCV000674334]\|Bardet-Biedl syndrome [RCV002544670]	pathogenic	12	76346741	76346741	Human	2	name
13783877	CV547221	duplication	NM_024685.4(BBS10):c.1122dup (p.Ile375fs)	Bardet-Biedl syndrome 10 [RCV000672113]\|Bardet-Biedl syndrome [RCV002531305]	pathogenic\|likely pathogenic	12	76346862	76346863	Human	2	name
13783809	CV547241	single nucleotide variant	NM_024685.4(BBS10):c.766C>T (p.Arg256Ter)	Bardet-Biedl syndrome 10 [RCV000666720]\|Bardet-Biedl syndrome [RCV000806720]\|Retinal dystrophy [RCV004817873]	pathogenic\|likely pathogenic	12	76347219	76347219	Human	4	name
13783793	CV547244	single nucleotide variant	NM_024685.4(BBS10):c.537T>A (p.Cys179Ter)	Bardet-Biedl syndrome 10 [RCV000665633]	likely pathogenic	12	76347448	76347448	Human	1	name
13803258	CV572052	single nucleotide variant	NM_024685.4(BBS10):c.999T>A (p.Cys333Ter)	Bardet-Biedl syndrome [RCV000699050]	pathogenic	12	76346986	76346986	Human	1	name
13817021	CV572062	single nucleotide variant	NM_024685.4(BBS10):c.752C>T (p.Ala251Val)	BBS10-related disorder [RCV003411612]\|Bardet-Biedl syndrome 10 [RCV001272004]\|Bardet-Biedl syndrome [RCV000692724]	uncertain significance	12	76347233	76347233	Human	2	name , trait , alternate_id
13835502	CV586761	single nucleotide variant	NM_024685.4(BBS10):c.986C>T (p.Ser329Leu)	Bardet-Biedl syndrome [RCV002535202]\|not provided [RCV000731325]\|not specified [RCV001844231]	uncertain significance	12	76346999	76346999	Human	1	name
14696539	CV613754	single nucleotide variant	NM_024685.4(BBS10):c.962A>G (p.Tyr321Cys)	Bardet-Biedl syndrome 10 [RCV003461022]\|Bardet-Biedl syndrome [RCV000782276]\|not specified [RCV005240543]	likely pathogenic\|uncertain significance	12	76347023	76347023	Human	2	name
14724657	CV641389	single nucleotide variant	NM_024685.4(BBS10):c.886G>A (p.Ala296Thr)	BBS10-related disorder [RCV003411796]\|Bardet-Biedl syndrome 10 [RCV001276474]\|Bardet-Biedl syndrome [RCV000814869]\|Inborn genetic diseases [RCV002537389]\|not provided [RCV001702720]\|not specified [RCV001816892]	likely benign\|uncertain significance	12	76347099	76347099	Human	3	name , trait , alternate_id
14718486	CV641391	single nucleotide variant	NM_024685.4(BBS10):c.383T>C (p.Phe128Ser)	Bardet-Biedl syndrome [RCV000812239]	uncertain significance	12	76347602	76347602	Human	1	name
15189378	CV769310	single nucleotide variant	NM_024685.4(BBS10):c.607A>G (p.Thr203Ala)	BBS10-related disorder [RCV003413733]\|Bardet-Biedl syndrome 10 [RCV001272005]\|Bardet-Biedl syndrome [RCV000932222]\|Inborn genetic diseases [RCV002544448]	likely benign\|uncertain significance	12	76347378	76347378	Human	3	name , trait , alternate_id
21072427	CV791277	deletion	NM_024685.4(BBS10):c.1315del (p.Gln439fs)	Bardet-Biedl syndrome 10 [RCV000988874]\|Bardet-Biedl syndrome [RCV001389994]	pathogenic\|likely pathogenic	12	76346670	76346670	Human	2	name
38464009	CV801435	single nucleotide variant	NM_024685.4(BBS10):c.578T>C (p.Leu193Ser)	Bardet-Biedl syndrome [RCV001199433]	pathogenic	12	76347407	76347407	Human	1	name
21404184	CV801718	single nucleotide variant	NM_024685.4(BBS10):c.943C>T (p.Gln315Ter)	Bardet-Biedl syndrome 1 [RCV001004384]	likely pathogenic	12	76347042	76347042	Human	1	name
8627383	CV82527	single nucleotide variant	NM_024685.3(BBS10):c.385A>T (p.Ile129Phe)	Malignant melanoma [RCV000062606]	not provided	12	76347600	76347600	Human		name
26900688	CV840289	single nucleotide variant	NM_024685.4(BBS10):c.908G>C (p.Ser303Thr)	Bardet-Biedl syndrome 10 [RCV001832463]\|Bardet-Biedl syndrome [RCV001049638]	uncertain significance	12	76347077	76347077	Human	2	name
26923627	CV840290	single nucleotide variant	NM_024685.4(BBS10):c.815G>C (p.Gly272Ala)	Bardet-Biedl syndrome 10 [RCV001827417]\|Bardet-Biedl syndrome [RCV001064344]	uncertain significance	12	76347170	76347170	Human	2	name
26910065	CV840291	single nucleotide variant	NM_024685.4(BBS10):c.598A>T (p.Lys200Ter)	Bardet-Biedl syndrome [RCV001038598]	pathogenic	12	76347387	76347387	Human	1	name
26918939	CV840292	single nucleotide variant	NM_024685.4(BBS10):c.473C>A (p.Ser158Ter)	Bardet-Biedl syndrome 10 [RCV003462573]\|Bardet-Biedl syndrome [RCV001058425]	pathogenic\|likely pathogenic	12	76347512	76347512	Human	2	name
26886838	CV840293	single nucleotide variant	NM_024685.4(BBS10):c.397C>T (p.Leu133Phe)	Bardet-Biedl syndrome 10 [RCV001833642]\|Bardet-Biedl syndrome [RCV001066320]	uncertain significance	12	76347588	76347588	Human	2	name
26913500	CV840294	single nucleotide variant	NM_024685.4(BBS10):c.380A>G (p.Lys127Arg)	Bardet-Biedl syndrome [RCV001054267]\|Inborn genetic diseases [RCV004963052]	uncertain significance	12	76347605	76347605	Human	2	name
28910829	CV870471	single nucleotide variant	NM_024685.4(BBS10):c.559C>A (p.His187Asn)	Bardet-Biedl syndrome 10 [RCV001109508]\|Inborn genetic diseases [RCV004601372]	uncertain significance	12	76347426	76347426	Human	2	name
38493349	CV926736	deletion	NM_024685.4(BBS10):c.2052del (p.Lys684fs)	Bardet-Biedl syndrome 10 [RCV003462763]\|Bardet-Biedl syndrome [RCV001224182]	pathogenic\|likely pathogenic	12	76345933	76345933	Human	2	name
38475543	CV936265	single nucleotide variant	NM_024685.4(BBS10):c.625G>T (p.Gly209Cys)	Bardet-Biedl syndrome [RCV001204043]	uncertain significance	12	76347360	76347360	Human	1	name
38487479	CV936266	single nucleotide variant	NM_024685.4(BBS10):c.434T>C (p.Met145Thr)	Bardet-Biedl syndrome 10 [RCV001833839]\|Bardet-Biedl syndrome [RCV001209326]	uncertain significance	12	76347551	76347551	Human	2	name
38472077	CV936267	single nucleotide variant	NM_024685.4(BBS10):c.360G>A (p.Trp120Ter)	Bardet-Biedl syndrome 10 [RCV003462721]\|Bardet-Biedl syndrome [RCV001213955]	pathogenic\|likely pathogenic	12	76347625	76347625	Human	2	name
38479969	CV936268	single nucleotide variant	NM_024685.4(BBS10):c.350G>C (p.Gly117Ala)	Bardet-Biedl syndrome [RCV001206200]	uncertain significance	12	76347635	76347635	Human	1	name
38495486	CV948164	single nucleotide variant	NM_024685.4(BBS10):c.934A>G (p.Ser312Gly)	Bardet-Biedl syndrome 10 [RCV002484224]\|Bardet-Biedl syndrome [RCV001225750]	uncertain significance	12	76347051	76347051	Human	2	name
38485356	CV948165	single nucleotide variant	NM_024685.4(BBS10):c.763A>G (p.Met255Val)	Bardet-Biedl syndrome [RCV001236722]	uncertain significance	12	76347222	76347222	Human	1	name
38458638	CV956947	single nucleotide variant	NM_024685.4(BBS10):c.583T>G (p.Cys195Gly)	BBS10-related disorder [RCV004740629]\|Bardet-Biedl syndrome 10 [RCV001829988]\|Bardet-Biedl syndrome [RCV001246384]	uncertain significance	12	76347402	76347402	Human	2	name , trait , alternate_id
38460627	CV956948	single nucleotide variant	NM_024685.4(BBS10):c.406T>C (p.Phe136Leu)	Bardet-Biedl syndrome [RCV001246779]	uncertain significance	12	76347579	76347579	Human	1	name
38469205	CV956949	single nucleotide variant	NM_024685.4(BBS10):c.344C>T (p.Thr115Ile)	Bardet-Biedl syndrome [RCV001248172]	uncertain significance	12	76347641	76347641	Human	1	name
126768114	CV1010608	single nucleotide variant	NM_024685.4(BBS10):c.2048G>A (p.Gly683Asp)	Bardet-Biedl syndrome 10 [RCV001836306]\|Bardet-Biedl syndrome [RCV001321173]	uncertain significance	12	76345937	76345937	Human	2	name
126730453	CV1010609	single nucleotide variant	NM_024685.4(BBS10):c.1973A>G (p.Tyr658Cys)	Bardet-Biedl syndrome [RCV001312866]	uncertain significance	12	76346012	76346012	Human	1	name
126773400	CV1010610	single nucleotide variant	NM_024685.4(BBS10):c.1811G>C (p.Gly604Ala)	Bardet-Biedl syndrome [RCV001324308]	uncertain significance	12	76346174	76346174	Human	1	name
126740542	CV1010611	single nucleotide variant	NM_024685.4(BBS10):c.1780A>G (p.Met594Val)	Bardet-Biedl syndrome 10 [RCV002486228]\|Bardet-Biedl syndrome [RCV001314394]	uncertain significance	12	76346205	76346205	Human	2	name
126764445	CV1010612	single nucleotide variant	NM_024685.4(BBS10):c.1234G>C (p.Asp412His)	Bardet-Biedl syndrome 10 [RCV001835600]\|Bardet-Biedl syndrome [RCV001319649]	uncertain significance	12	76346751	76346751	Human	2	name
126725328	CV1017688	single nucleotide variant	NM_024685.4(BBS10):c.1365T>G (p.Tyr455Ter)	Bardet-Biedl syndrome 10 [RCV001331336]\|Bardet-Biedl syndrome [RCV002546463]	pathogenic	12	76346620	76346620	Human	2	name
126765912	CV1031125	single nucleotide variant	NM_024685.4(BBS10):c.2004T>G (p.Asn668Lys)	Bardet-Biedl syndrome 10 [RCV001831080]\|Bardet-Biedl syndrome [RCV001342218]	uncertain significance	12	76345981	76345981	Human	2	name
126728037	CV1031126	single nucleotide variant	NM_024685.4(BBS10):c.1360A>G (p.Ser454Gly)	Bardet-Biedl syndrome 10 [RCV001831147]\|Bardet-Biedl syndrome [RCV001348832]	uncertain significance	12	76346625	76346625	Human	2	name
126774445	CV1031127	single nucleotide variant	NM_024685.4(BBS10):c.1133C>T (p.Ser378Phe)	Bardet-Biedl syndrome [RCV001347240]	uncertain significance	12	76346852	76346852	Human	1	name
126919507	CV1048119	single nucleotide variant	NM_024685.4(BBS10):c.2003A>G (p.Asn668Ser)	BBS10-related disorder [RCV003918886]\|Bardet-Biedl syndrome 10 [RCV001826020]\|Bardet-Biedl syndrome [RCV001362329]\|Inborn genetic diseases [RCV002550027]\|not specified [RCV003151309]	uncertain significance	12	76345982	76345982	Human	3	name , trait , alternate_id
126911514	CV1048120	single nucleotide variant	NM_024685.4(BBS10):c.1909C>G (p.Leu637Val)	Bardet-Biedl syndrome [RCV001369248]	uncertain significance	12	76346076	76346076	Human	1	name
126924772	CV1048121	single nucleotide variant	NM_024685.4(BBS10):c.1606T>C (p.Tyr536His)	Bardet-Biedl syndrome [RCV001367417]	uncertain significance	12	76346379	76346379	Human	1	name
126908377	CV1048122	single nucleotide variant	NM_024685.4(BBS10):c.1463A>G (p.Lys488Arg)	BBS10-related disorder [RCV003416276]\|Bardet-Biedl syndrome 10 [RCV001831278]\|Bardet-Biedl syndrome [RCV001367792]	uncertain significance	12	76346522	76346522	Human	2	name , trait , alternate_id
127257799	CV1062714	single nucleotide variant	NM_024685.4(BBS10):c.1654G>T (p.Gly552Ter)	Bardet-Biedl syndrome 10 [RCV005005237]\|Bardet-Biedl syndrome [RCV001386811]	pathogenic\|likely pathogenic	12	76346331	76346331	Human	2	name
151351702	CV1325015	single nucleotide variant	NM_024685.4(BBS10):c.1230T>G (p.His410Gln)	Bardet-Biedl syndrome 10 [RCV001810536]	uncertain significance	12	76346755	76346755	Human	1	name
151780231	CV1341731	single nucleotide variant	NM_024685.4(BBS10):c.1145T>G (p.Val382Gly)	Bardet-Biedl syndrome [RCV001897168]	uncertain significance	12	76346840	76346840	Human	1	name
151734705	CV1354610	single nucleotide variant	NM_024685.4(BBS10):c.1514C>T (p.Pro505Leu)	BBS10-related disorder [RCV003416535]\|Bardet-Biedl syndrome 10 [RCV002478236]\|Bardet-Biedl syndrome [RCV001892618]	uncertain significance	12	76346471	76346471	Human	2	name , trait , alternate_id
151795850	CV1355858	single nucleotide variant	NM_024685.4(BBS10):c.1696A>G (p.Asn566Asp)	BBS10-related disorder [RCV003403653]\|Bardet-Biedl syndrome 10 [RCV002479813]\|Bardet-Biedl syndrome [RCV002027638]	uncertain significance	12	76346289	76346289	Human	2	name , trait , alternate_id
151813294	CV1366249	single nucleotide variant	NM_024685.4(BBS10):c.1607A>G (p.Tyr536Cys)	Bardet-Biedl syndrome [RCV001933418]	uncertain significance	12	76346378	76346378	Human	1	name
151841191	CV1368087	single nucleotide variant	NM_024685.4(BBS10):c.1297A>T (p.Met433Leu)	Bardet-Biedl syndrome [RCV001902862]	uncertain significance	12	76346688	76346688	Human	1	name
151839364	CV1368734	single nucleotide variant	NM_024685.4(BBS10):c.1882A>G (p.Met628Val)	BBS10-related disorder [RCV003923403]\|Bardet-Biedl syndrome 10 [RCV002497991]\|Bardet-Biedl syndrome [RCV002015140]\|Inborn genetic diseases [RCV002641989]	uncertain significance	12	76346103	76346103	Human	3	name , trait , alternate_id
151817341	CV1384832	single nucleotide variant	NM_024685.4(BBS10):c.1839T>A (p.Tyr613Ter)	Bardet-Biedl syndrome [RCV001992426]	pathogenic	12	76346146	76346146	Human	1	name
151732692	CV1386428	single nucleotide variant	NM_024685.4(BBS10):c.1790G>T (p.Gly597Val)	Bardet-Biedl syndrome [RCV001911042]	uncertain significance	12	76346195	76346195	Human	1	name
151820108	CV1390702	single nucleotide variant	NM_024685.4(BBS10):c.1909C>A (p.Leu637Ile)	Bardet-Biedl syndrome [RCV001992689]	uncertain significance	12	76346076	76346076	Human	1	name
151830264	CV1405392	single nucleotide variant	NM_024685.4(BBS10):c.1010A>G (p.Glu337Gly)	Bardet-Biedl syndrome [RCV001901740]	uncertain significance	12	76346975	76346975	Human	1	name
151875917	CV1406051	single nucleotide variant	NM_024685.4(BBS10):c.1034T>C (p.Ile345Thr)	Bardet-Biedl syndrome 10 [RCV005006255]\|Bardet-Biedl syndrome [RCV001981899]	uncertain significance	12	76346951	76346951	Human	2	name
151767256	CV1415084	single nucleotide variant	NM_024685.4(BBS10):c.1936A>G (p.Lys646Glu)	Bardet-Biedl syndrome [RCV001929171]	uncertain significance	12	76346049	76346049	Human	1	name
151766180	CV1418817	single nucleotide variant	NM_024685.4(BBS10):c.1075C>G (p.Gln359Glu)	BBS10-related disorder [RCV003948821]\|Bardet-Biedl syndrome 10 [RCV002484577]\|Bardet-Biedl syndrome [RCV001929070]\|not provided [RCV004779200]	likely benign\|uncertain significance	12	76346910	76346910	Human	2	name , trait , alternate_id
151788052	CV1419684	single nucleotide variant	NM_024685.4(BBS10):c.1592A>G (p.Asn531Ser)	Bardet-Biedl syndrome [RCV001951763]	uncertain significance	12	76346393	76346393	Human	1	name
151792993	CV1423014	single nucleotide variant	NM_024685.4(BBS10):c.1970C>T (p.Thr657Ile)	BBS10-related disorder [RCV003395289]\|Bardet-Biedl syndrome [RCV001916997]	uncertain significance	12	76346015	76346015	Human	2	name , trait , alternate_id
151862112	CV1423558	single nucleotide variant	NM_024685.4(BBS10):c.1232A>G (p.Glu411Gly)	Bardet-Biedl syndrome [RCV001997262]	uncertain significance	12	76346753	76346753	Human	1	name
151740441	CV1425294	single nucleotide variant	NM_024685.4(BBS10):c.1054G>A (p.Val352Ile)	Bardet-Biedl syndrome [RCV001926413]	uncertain significance	12	76346931	76346931	Human	1	name
151744722	CV1428055	single nucleotide variant	NM_024685.4(BBS10):c.2167C>G (p.Leu723Val)	Bardet-Biedl syndrome [RCV001926831]	uncertain significance	12	76345818	76345818	Human	1	name
151824043	CV1429289	single nucleotide variant	NM_024685.4(BBS10):c.1741C>T (p.Pro581Ser)	Bardet-Biedl syndrome 10 [RCV002492112]\|Bardet-Biedl syndrome [RCV001993066]	uncertain significance	12	76346244	76346244	Human	2	name
151738742	CV1437475	single nucleotide variant	NM_024685.4(BBS10):c.1907C>T (p.Ala636Val)	Bardet-Biedl syndrome [RCV001870803]	uncertain significance	12	76346078	76346078	Human	1	name
151781448	CV1439083	single nucleotide variant	NM_024685.4(BBS10):c.1081G>A (p.Glu361Lys)	Bardet-Biedl syndrome [RCV002009781]	uncertain significance	12	76346904	76346904	Human	1	name
151775620	CV1450436	single nucleotide variant	NM_024685.4(BBS10):c.1747A>G (p.Met583Val)	Bardet-Biedl syndrome [RCV001915404]	uncertain significance	12	76346238	76346238	Human	1	name
151761050	CV1459601	single nucleotide variant	NM_024685.4(BBS10):c.1901C>G (p.Ala634Gly)	Bardet-Biedl syndrome [RCV002044281]	uncertain significance	12	76346084	76346084	Human	1	name
151875801	CV1461298	single nucleotide variant	NM_024685.4(BBS10):c.2132C>T (p.Pro711Leu)	BBS10-related disorder [RCV004741142]\|Bardet-Biedl syndrome [RCV001925801]	uncertain significance	12	76345853	76345853	Human	2	name , trait , alternate_id
151849423	CV1480491	single nucleotide variant	NM_024685.4(BBS10):c.1198T>C (p.Cys400Arg)	Bardet-Biedl syndrome [RCV001903888]	uncertain significance	12	76346787	76346787	Human	1	name
151746146	CV1485156	single nucleotide variant	NM_024685.4(BBS10):c.1850A>G (p.Tyr617Cys)	Bardet-Biedl syndrome [RCV002006329]	uncertain significance	12	76346135	76346135	Human	1	name
151746207	CV1485165	single nucleotide variant	NM_024685.4(BBS10):c.2146A>C (p.Asn716His)	BBS10-related disorder [RCV003418292]\|Bardet-Biedl syndrome [RCV002006335]	uncertain significance	12	76345839	76345839	Human	2	name , trait , alternate_id
151714312	CV1488420	single nucleotide variant	NM_024685.4(BBS10):c.1628A>G (p.Asn543Ser)	Bardet-Biedl syndrome 10 [RCV005002738]\|Bardet-Biedl syndrome [RCV002002623]	uncertain significance	12	76346357	76346357	Human	2	name
151845182	CV1496615	single nucleotide variant	NM_024685.4(BBS10):c.1427A>G (p.Asn476Ser)	Bardet-Biedl syndrome 10 [RCV002482640]\|Bardet-Biedl syndrome [RCV001922019]	uncertain significance	12	76346558	76346558	Human	2	name
151728132	CV1505202	single nucleotide variant	NM_024685.4(BBS10):c.1696A>C (p.Asn566His)	Bardet-Biedl syndrome 10 [RCV002486720]\|Bardet-Biedl syndrome [RCV002021017]	uncertain significance	12	76346289	76346289	Human	2	name
151811822	CV1510252	single nucleotide variant	NM_024685.4(BBS10):c.1123A>T (p.Ile375Phe)	Bardet-Biedl syndrome [RCV001918684]	uncertain significance	12	76346862	76346862	Human	1	name
9688322	CV177141	single nucleotide variant	NM_024685.4(BBS10):c.1616C>T (p.Pro539Leu)	Bardet-Biedl syndrome 10 [RCV000576464]\|Bardet-Biedl syndrome [RCV000270164]\|not provided [RCV001706010]\|not specified [RCV000152825]	benign\|likely benign\|conflicting interpretations of pathogenicity	12	76346369	76346369	Human	2	name
9688321	CV177273	single nucleotide variant	NM_024685.4(BBS10):c.1631A>G (p.Asn544Ser)	Bardet-Biedl syndrome 10 [RCV001112169]\|Bardet-Biedl syndrome [RCV001084157]\|not provided [RCV000438509]\|not specified [RCV000152824]	benign\|likely benign\|conflicting interpretations of pathogenicity	12	76346354	76346354	Human	2	name
9692707	CV177405	single nucleotide variant	NM_024685.4(BBS10):c.1264C>T (p.Arg422Trp)	BBS10-related disorder [RCV003422042]\|Bardet-Biedl syndrome 10 [RCV000671479]\|Bardet-Biedl syndrome [RCV001850085]\|not provided [RCV000152826]	uncertain significance	12	76346721	76346721	Human	2	name , trait , alternate_id
155749348	CV1775553	single nucleotide variant	NM_024685.4(BBS10):c.1201G>A (p.Gly401Arg)	Bardet-Biedl syndrome [RCV002304555]	uncertain significance	12	76346784	76346784	Human	1	name
155730572	CV1780841	single nucleotide variant	NM_024685.4(BBS10):c.1189A>G (p.Ile397Val)	BBS10-related disorder [RCV003418448]\|Bardet-Biedl syndrome 10 [RCV005002824]\|Bardet-Biedl syndrome [RCV002308629]\|not provided [RCV004719254]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	12	76346796	76346796	Human	2	name , trait , alternate_id
10041641	CV186850	single nucleotide variant	NM_024685.4(BBS10):c.1241T>C (p.Leu414Ser)	BBS10-related disorder [RCV003390883]\|Bardet-Biedl syndrome 10 [RCV000169317]\|Bardet-Biedl syndrome [RCV001244659]\|not provided [RCV004589828]	pathogenic\|likely pathogenic	12	76346744	76346744	Human	2	name , trait , alternate_id
156351687	CV1870138	single nucleotide variant	NM_024685.4(BBS10):c.2095T>G (p.Leu699Val)	Bardet-Biedl syndrome [RCV003064902]\|Inborn genetic diseases [RCV004070360]	uncertain significance	12	76345890	76345890	Human	2	name
156219599	CV1879160	single nucleotide variant	NM_024685.4(BBS10):c.1032G>T (p.Arg344Ser)	Bardet-Biedl syndrome [RCV003058875]\|Inborn genetic diseases [RCV004070268]	uncertain significance	12	76346953	76346953	Human	2	name
156383797	CV1886704	single nucleotide variant	NM_024685.4(BBS10):c.1535C>T (p.Thr512Ile)	Bardet-Biedl syndrome [RCV003093510]	uncertain significance	12	76346450	76346450	Human	1	name
156409856	CV1891680	single nucleotide variant	NM_024685.4(BBS10):c.1277A>G (p.Lys426Arg)	Bardet-Biedl syndrome [RCV003071842]	uncertain significance	12	76346708	76346708	Human	1	name
156058861	CV1892233	single nucleotide variant	NM_024685.4(BBS10):c.1249G>A (p.Ala417Thr)	Bardet-Biedl syndrome [RCV003079147]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	12	76346736	76346736	Human	1	name
156411228	CV1893024	single nucleotide variant	NM_024685.4(BBS10):c.1160T>C (p.Ile387Thr)	Bardet-Biedl syndrome [RCV003072390]	uncertain significance	12	76346825	76346825	Human	1	name
156355454	CV1894807	single nucleotide variant	NM_024685.4(BBS10):c.1596G>C (p.Arg532Ser)	Bardet-Biedl syndrome [RCV003091313]	uncertain significance	12	76346389	76346389	Human	1	name
156313606	CV1896630	single nucleotide variant	NM_024685.4(BBS10):c.1891A>G (p.Met631Val)	Bardet-Biedl syndrome [RCV003088589]	uncertain significance	12	76346094	76346094	Human	1	name
155954304	CV1896653	single nucleotide variant	NM_024685.4(BBS10):c.1280A>G (p.Asp427Gly)	Bardet-Biedl syndrome [RCV003095498]	uncertain significance	12	76346705	76346705	Human	1	name
156413595	CV1905278	single nucleotide variant	NM_024685.4(BBS10):c.1325C>G (p.Thr442Ser)	Bardet-Biedl syndrome [RCV003073357]	uncertain significance	12	76346660	76346660	Human	1	name
156333760	CV1905805	single nucleotide variant	NM_024685.4(BBS10):c.1483A>C (p.Ile495Leu)	Bardet-Biedl syndrome [RCV003089949]	uncertain significance	12	76346502	76346502	Human	1	name
156157632	CV1906652	single nucleotide variant	NM_024685.4(BBS10):c.1664T>C (p.Ile555Thr)	Bardet-Biedl syndrome [RCV003082767]	uncertain significance	12	76346321	76346321	Human	1	name
155945499	CV1911269	single nucleotide variant	NM_024685.4(BBS10):c.1036A>G (p.Ile346Val)	Bardet-Biedl syndrome [RCV002615907]\|Inborn genetic diseases [RCV004069124]	uncertain significance	12	76346949	76346949	Human	2	name
156196904	CV1912371	single nucleotide variant	NM_024685.4(BBS10):c.1589G>A (p.Arg530Lys)	Bardet-Biedl syndrome [RCV002595564]	uncertain significance	12	76346396	76346396	Human	1	name
156299658	CV1919886	single nucleotide variant	NM_024685.4(BBS10):c.1522A>G (p.Thr508Ala)	BBS10-related disorder [RCV003410102]\|Bardet-Biedl syndrome 10 [RCV005002957]\|Bardet-Biedl syndrome [RCV002599106]\|Inborn genetic diseases [RCV003161907]	uncertain significance	12	76346463	76346463	Human	3	name , trait , alternate_id
10050849	CV192539	single nucleotide variant	NM_024685.4(BBS10):c.2144A>G (p.His715Arg)	not provided [RCV000175946]	uncertain significance	12	76345841	76345841	Human		name
10050850	CV192540	single nucleotide variant	NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys)	Bardet-Biedl syndrome 10 [RCV000671818]\|Bardet-Biedl syndrome [RCV002516694]\|not provided [RCV000175947]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	12	76346147	76346147	Human	2	name
156410144	CV1932174	single nucleotide variant	NM_024685.4(BBS10):c.1158G>C (p.Leu386Phe)	Bardet-Biedl syndrome [RCV002607773]	uncertain significance	12	76346827	76346827	Human	1	name
156162243	CV1933269	single nucleotide variant	NM_024685.4(BBS10):c.1027C>T (p.Arg343Trp)	Bardet-Biedl syndrome 10 [RCV005002973]\|Bardet-Biedl syndrome [RCV002624415]	uncertain significance	12	76346958	76346958	Human	2	name
156436108	CV1937327	single nucleotide variant	NM_024685.4(BBS10):c.1072T>C (p.Ser358Pro)	Bardet-Biedl syndrome [RCV003105191]	uncertain significance	12	76346913	76346913	Human	1	name
156435625	CV1940852	single nucleotide variant	NM_024685.4(BBS10):c.2144A>C (p.His715Pro)	Bardet-Biedl syndrome [RCV003104954]	uncertain significance	12	76345841	76345841	Human	1	name
156446551	CV1947897	single nucleotide variant	NM_024685.4(BBS10):c.1440G>C (p.Leu480Phe)	Bardet-Biedl syndrome [RCV003118060]	uncertain significance	12	76346545	76346545	Human	1	name
156446552	CV1947898	single nucleotide variant	NM_024685.4(BBS10):c.1048C>A (p.Pro350Thr)	Bardet-Biedl syndrome [RCV003118061]	uncertain significance	12	76346937	76346937	Human	1	name
156298120	CV1955413	single nucleotide variant	NM_024685.4(BBS10):c.1192G>A (p.Val398Ile)	BBS10-related disorder [RCV003409878]\|Bardet-Biedl syndrome [RCV002578102]	uncertain significance	12	76346793	76346793	Human	2	name , trait , alternate_id
156343734	CV1958038	single nucleotide variant	NM_024685.4(BBS10):c.1401G>C (p.Arg467Ser)	Bardet-Biedl syndrome [RCV002580650]	uncertain significance	12	76346584	76346584	Human	1	name
156344784	CV1958115	single nucleotide variant	NM_024685.4(BBS10):c.1442A>G (p.Glu481Gly)	Bardet-Biedl syndrome [RCV002580707]	uncertain significance	12	76346543	76346543	Human	1	name
156195191	CV1994875	single nucleotide variant	NM_024685.4(BBS10):c.1606T>G (p.Tyr536Asp)	Bardet-Biedl syndrome [RCV002643442]	uncertain significance	12	76346379	76346379	Human	1	name
156107268	CV2002078	single nucleotide variant	NM_024685.4(BBS10):c.1349A>G (p.Asn450Ser)	Bardet-Biedl syndrome [RCV002639801]	uncertain significance	12	76346636	76346636	Human	1	name
156278733	CV2005096	single nucleotide variant	NM_024685.4(BBS10):c.1490A>G (p.Asp497Gly)	Bardet-Biedl syndrome [RCV002646769]	uncertain significance	12	76346495	76346495	Human	1	name
155972484	CV2021681	single nucleotide variant	NM_024685.4(BBS10):c.2057A>G (p.Gln686Arg)	Bardet-Biedl syndrome [RCV002754957]	uncertain significance	12	76345928	76345928	Human	1	name
156055963	CV2023883	single nucleotide variant	NM_024685.4(BBS10):c.1975A>G (p.Ile659Val)	Bardet-Biedl syndrome [RCV002736666]	uncertain significance	12	76346010	76346010	Human	1	name
155917585	CV2029979	single nucleotide variant	NM_024685.4(BBS10):c.1896A>G (p.Ile632Met)	Bardet-Biedl syndrome [RCV002735969]\|Inborn genetic diseases [RCV002750543]	uncertain significance	12	76346089	76346089	Human	2	name
155931072	CV2035061	single nucleotide variant	NM_024685.4(BBS10):c.1925A>G (p.Lys642Arg)	Bardet-Biedl syndrome [RCV002751161]\|Inborn genetic diseases [RCV004966088]\|not provided [RCV004790244]	likely benign\|uncertain significance	12	76346060	76346060	Human	2	name
156117602	CV2042922	single nucleotide variant	NM_024685.4(BBS10):c.1634C>G (p.Ser545Cys)	Bardet-Biedl syndrome [RCV002800097]	uncertain significance	12	76346351	76346351	Human	1	name
156272961	CV2046210	single nucleotide variant	NM_024685.4(BBS10):c.1964C>T (p.Pro655Leu)	Bardet-Biedl syndrome 10 [RCV005002883]\|Bardet-Biedl syndrome [RCV002770109]	uncertain significance	12	76346021	76346021	Human	2	name
155905322	CV2048078	single nucleotide variant	NM_024685.4(BBS10):c.1195C>A (p.Leu399Ile)	BBS10-related disorder [RCV004725378]\|Bardet-Biedl syndrome [RCV002771230]	uncertain significance	12	76346790	76346790	Human	2	name , trait , alternate_id
156013246	CV2051568	single nucleotide variant	NM_024685.4(BBS10):c.1505C>A (p.Thr502Lys)	Bardet-Biedl syndrome [RCV002820238]	uncertain significance	12	76346480	76346480	Human	1	name
156062571	CV2057477	single nucleotide variant	NM_024685.4(BBS10):c.1336T>C (p.Phe446Leu)	Bardet-Biedl syndrome [RCV002797150]	uncertain significance	12	76346649	76346649	Human	1	name
155912079	CV2069621	single nucleotide variant	NM_024685.4(BBS10):c.1235A>T (p.Asp412Val)	Bardet-Biedl syndrome [RCV002837791]	uncertain significance	12	76346750	76346750	Human	1	name
155926722	CV2099621	single nucleotide variant	NM_024685.4(BBS10):c.1915G>A (p.Gly639Ser)	Bardet-Biedl syndrome [RCV002903610]\|Inborn genetic diseases [RCV004966156]	uncertain significance	12	76346070	76346070	Human	2	name
156144580	CV2113391	single nucleotide variant	NM_024685.4(BBS10):c.2107A>G (p.Met703Val)	BBS10-related disorder [RCV004741352]\|Bardet-Biedl syndrome [RCV002915033]	uncertain significance	12	76345878	76345878	Human	2	name , trait , alternate_id
156034536	CV2128050	single nucleotide variant	NM_024685.4(BBS10):c.1980A>T (p.Arg660Ser)	Bardet-Biedl syndrome 10 [RCV005002908]\|Bardet-Biedl syndrome [RCV002923660]\|not provided [RCV005255731]	uncertain significance	12	76346005	76346005	Human	2	name
156217240	CV2128051	single nucleotide variant	NM_024685.4(BBS10):c.1807G>T (p.Gly603Cys)	Bardet-Biedl syndrome 10 [RCV005010807]\|Bardet-Biedl syndrome [RCV002957994]\|not provided [RCV005255732]	uncertain significance	12	76346178	76346178	Human	2	name
156304509	CV2129683	single nucleotide variant	NM_024685.4(BBS10):c.1540A>G (p.Thr514Ala)	Bardet-Biedl syndrome [RCV002962298]	uncertain significance	12	76346445	76346445	Human	1	name
10408681	CV213009	single nucleotide variant	NM_024685.4(BBS10):c.1185C>G (p.His395Gln)	BBS10-related disorder [RCV004739591]\|Bardet-Biedl syndrome 10 [RCV001828036]\|Bardet-Biedl syndrome [RCV000197080]	uncertain significance	12	76346800	76346800	Human	2	name , trait , alternate_id
10408868	CV213010	single nucleotide variant	NM_024685.4(BBS10):c.1144G>T (p.Val382Phe)	Bardet-Biedl syndrome 10 [RCV000669185]\|Bardet-Biedl syndrome [RCV000200691]	uncertain significance	12	76346841	76346841	Human	2	name
156365639	CV2130603	single nucleotide variant	NM_024685.4(BBS10):c.1724C>T (p.Pro575Leu)	Bardet-Biedl syndrome [RCV002967280]	uncertain significance	12	76346261	76346261	Human	1	name
156059886	CV2161854	single nucleotide variant	NM_024685.4(BBS10):c.1525C>T (p.Pro509Ser)	Bardet-Biedl syndrome [RCV003019693]\|Inborn genetic diseases [RCV003028704]	uncertain significance	12	76346460	76346460	Human	2	name
156294851	CV2162574	single nucleotide variant	NM_024685.4(BBS10):c.1826T>C (p.Leu609Ser)	Bardet-Biedl syndrome [RCV003045290]	uncertain significance	12	76346159	76346159	Human	1	name
155954903	CV2166405	single nucleotide variant	NM_024685.4(BBS10):c.2002A>G (p.Asn668Asp)	Bardet-Biedl syndrome [RCV003015046]	uncertain significance	12	76345983	76345983	Human	1	name
156242727	CV2173470	single nucleotide variant	NM_024685.4(BBS10):c.1930C>T (p.Leu644Phe)	Bardet-Biedl syndrome [RCV003043502]	uncertain significance	12	76346055	76346055	Human	1	name
156212407	CV2176346	single nucleotide variant	NM_024685.4(BBS10):c.1767C>G (p.Tyr589Ter)	Bardet-Biedl syndrome [RCV003024856]	pathogenic	12	76346218	76346218	Human	1	name
329847297	CV2534465	single nucleotide variant	NM_024685.4(BBS10):c.1220T>C (p.Ile407Thr)	Bardet-Biedl syndrome 10 [RCV003228674]	uncertain significance	12	76346765	76346765	Human	1	name
11544110	CV254720	single nucleotide variant	NM_024685.4(BBS10):c.1669A>G (p.Ile557Val)	Bardet-Biedl syndrome 10 [RCV001274501]\|Bardet-Biedl syndrome [RCV000638386]\|not provided [RCV001699273]\|not specified [RCV000243352]	benign\|likely benign\|conflicting interpretations of pathogenicity	12	76346316	76346316	Human	2	name
401866903	CV2748773	single nucleotide variant	NM_024685.4(BBS10):c.1956C>G (p.Tyr652Ter)	Bardet-Biedl syndrome [RCV003331595]	pathogenic	12	76346029	76346029	Human	1	name
401936135	CV2796297	single nucleotide variant	NM_024685.4(BBS10):c.1101G>C (p.Leu367Phe)	BBS10-related disorder [RCV003414106]	uncertain significance	12	76346884	76346884	Human		name , trait , alternate_id
401913844	CV2799015	single nucleotide variant	NM_024685.4(BBS10):c.1140A>T (p.Arg380Ser)	BBS10-related disorder [RCV003400202]	uncertain significance	12	76346845	76346845	Human		name , trait , alternate_id
404990462	CV2883123	single nucleotide variant	NM_024685.4(BBS10):c.1802C>T (p.Pro601Leu)	Bardet-Biedl syndrome [RCV003525002]	uncertain significance	12	76346183	76346183	Human	1	name
404993399	CV2898910	single nucleotide variant	NM_024685.4(BBS10):c.1799T>C (p.Leu600Ser)	Bardet-Biedl syndrome [RCV003525333]	uncertain significance	12	76346186	76346186	Human	1	name
405090563	CV2988546	duplication	NM_024685.4(BBS10):c.1812dup (p.Asn605Ter)	Bardet-Biedl syndrome [RCV003634790]	pathogenic	12	76346172	76346173	Human	1	name
405093458	CV2992917	single nucleotide variant	NM_024685.4(BBS10):c.1619T>G (p.Leu540Ter)	Bardet-Biedl syndrome [RCV003635071]	pathogenic	12	76346366	76346366	Human	1	name
405093433	CV3134557	single nucleotide variant	NM_024685.4(BBS10):c.1684T>G (p.Leu562Val)	BBS10-related disorder [RCV004738920]\|Bardet-Biedl syndrome [RCV003834903]	uncertain significance	12	76346301	76346301	Human	2	name , trait , alternate_id
405230814	CV3157279	single nucleotide variant	NM_024685.4(BBS10):c.2039C>T (p.Ser680Leu)	BBS10-related disorder [RCV004738935]\|Bardet-Biedl syndrome [RCV003865229]	uncertain significance	12	76345946	76345946	Human	2	name , trait , alternate_id
405161609	CV3159983	single nucleotide variant	NM_024685.4(BBS10):c.1667A>G (p.Glu556Gly)	Bardet-Biedl syndrome [RCV003857054]	uncertain significance	12	76346318	76346318	Human	1	name
11646955	CV318509	single nucleotide variant	NM_024685.4(BBS10):c.1472C>A (p.Ser491Tyr)	Bardet-Biedl syndrome 10 [RCV000273809]	uncertain significance	12	76346513	76346513	Human	1	name
405269540	CV3201709	single nucleotide variant	NM_024685.4(BBS10):c.1142A>G (p.Tyr381Cys)	BBS10-related disorder [RCV003899616]	uncertain significance	12	76346843	76346843	Human		name , trait , alternate_id
11655670	CV326687	single nucleotide variant	NM_024685.4(BBS10):c.1567C>A (p.Leu523Met)	Bardet-Biedl syndrome 10 [RCV000327598]	uncertain significance	12	76346418	76346418	Human	1	name
11659924	CV332912	single nucleotide variant	NM_024685.4(BBS10):c.1973A>T (p.Tyr658Phe)	Bardet-Biedl syndrome 10 [RCV000362636]	uncertain significance	12	76346012	76346012	Human	1	name
11624597	CV334581	single nucleotide variant	NM_024685.4(BBS10):c.1028G>A (p.Arg343Gln)	BBS10-related disorder [RCV003422256]\|Bardet-Biedl syndrome 10 [RCV000388272]\|Bardet-Biedl syndrome [RCV001859859]\|Inborn genetic diseases [RCV003362753]\|not provided [RCV000591216]	likely benign\|uncertain significance	12	76346957	76346957	Human	3	name , trait , alternate_id
407495095	CV3417564	single nucleotide variant	NM_024685.4(BBS10):c.1883T>C (p.Met628Thr)	Inborn genetic diseases [RCV004605743]	uncertain significance	12	76346102	76346102	Human	1	name
408365299	CV3501519	single nucleotide variant	NM_024685.4(BBS10):c.1183C>G (p.His395Asp)	Bardet-Biedl syndrome 10 [RCV004720728]	uncertain significance	12	76346802	76346802	Human	1	name
408378809	CV3504192	single nucleotide variant	NM_024685.4(BBS10):c.2108T>A (p.Met703Lys)	BBS10-related disorder [RCV004728133]	uncertain significance	12	76345877	76345877	Human		name , trait , alternate_id
408382375	CV3504495	single nucleotide variant	NM_024685.4(BBS10):c.1859A>C (p.Lys620Thr)	BBS10-related disorder [RCV004729806]	uncertain significance	12	76346126	76346126	Human		name , trait , alternate_id
408370107	CV3507315	single nucleotide variant	NM_024685.4(BBS10):c.1804G>A (p.Val602Ile)	BBS10-related disorder [RCV004738995]	uncertain significance	12	76346181	76346181	Human		name , trait , alternate_id
408370039	CV3507430	single nucleotide variant	NM_024685.4(BBS10):c.1787C>T (p.Ala596Val)	BBS10-related disorder [RCV004739006]	uncertain significance	12	76346198	76346198	Human		name , trait , alternate_id
408370052	CV3507561	single nucleotide variant	NM_024685.4(BBS10):c.1234G>A (p.Asp412Asn)	BBS10-related disorder [RCV004739017]	uncertain significance	12	76346751	76346751	Human		name , trait , alternate_id
408370146	CV3507741	single nucleotide variant	NM_024685.4(BBS10):c.1464A>T (p.Lys488Asn)	BBS10-related disorder [RCV004739036]	uncertain significance	12	76346521	76346521	Human		name , trait , alternate_id
408370156	CV3508494	single nucleotide variant	NM_024685.4(BBS10):c.1168T>C (p.Cys390Arg)	BBS10-related disorder [RCV004739124]	uncertain significance	12	76346817	76346817	Human		name , trait , alternate_id
408370167	CV3508555	single nucleotide variant	NM_024685.4(BBS10):c.1364A>T (p.Tyr455Phe)	BBS10-related disorder [RCV004739133]	uncertain significance	12	76346621	76346621	Human		name , trait , alternate_id
408370468	CV3510432	single nucleotide variant	NM_024685.4(BBS10):c.1717A>G (p.Met573Val)	BBS10-related disorder [RCV004739790]\|Inborn genetic diseases [RCV004968613]	uncertain significance	12	76346268	76346268	Human	2	name , trait , alternate_id
408370460	CV3510459	single nucleotide variant	NM_024685.4(BBS10):c.1310A>G (p.Asn437Ser)	BBS10-related disorder [RCV004739791]	uncertain significance	12	76346675	76346675	Human		name , trait , alternate_id
408370742	CV3512844	single nucleotide variant	NM_024685.4(BBS10):c.1261C>T (p.Leu421Phe)	BBS10-related disorder [RCV004740018]\|Bardet-Biedl syndrome 10 [RCV005003799]	uncertain significance	12	76346724	76346724	Human	1	name , trait , alternate_id
408370965	CV3514254	single nucleotide variant	NM_024685.4(BBS10):c.1126C>T (p.Leu376Phe)	BBS10-related disorder [RCV004740155]	uncertain significance	12	76346859	76346859	Human		name , trait , alternate_id
408370855	CV3514278	single nucleotide variant	NM_024685.4(BBS10):c.1601C>T (p.Thr534Ile)	BBS10-related disorder [RCV004740159]	uncertain significance	12	76346384	76346384	Human		name , trait , alternate_id
408371376	CV3515864	single nucleotide variant	NM_024685.4(BBS10):c.1895T>C (p.Ile632Thr)	BBS10-related disorder [RCV004740806]	uncertain significance	12	76346090	76346090	Human		name , trait , alternate_id
408371690	CV3518004	single nucleotide variant	NM_024685.4(BBS10):c.1271T>C (p.Leu424Ser)	BBS10-related disorder [RCV004741023]	uncertain significance	12	76346714	76346714	Human		name , trait , alternate_id
12739457	CV358109	single nucleotide variant	NM_024685.4(BBS10):c.1677C>G (p.Tyr559Ter)	Bardet-Biedl syndrome 10 [RCV000409664]\|Bardet-Biedl syndrome [RCV001850959]	pathogenic\|likely pathogenic	12	76346308	76346308	Human	2	name
12739540	CV358113	single nucleotide variant	NM_024685.4(BBS10):c.1391C>G (p.Ser464Ter)	Bardet-Biedl syndrome 10 [RCV000409848]\|Bardet-Biedl syndrome [RCV001041782]	pathogenic\|likely pathogenic	12	76346594	76346594	Human	2	name
597626584	CV3642944	single nucleotide variant	NM_024685.4(BBS10):c.1715G>A (p.Ser572Asn)	Inborn genetic diseases [RCV004965148]	uncertain significance	12	76346270	76346270	Human	1	name
597626587	CV3642945	single nucleotide variant	NM_024685.4(BBS10):c.1457A>G (p.Tyr486Cys)	Inborn genetic diseases [RCV004965149]	uncertain significance	12	76346528	76346528	Human	1	name
597673874	CV3707316	single nucleotide variant	NM_024685.4(BBS10):c.2054A>G (p.Tyr685Cys)	Bardet-Biedl syndrome 10 [RCV005005350]	uncertain significance	12	76345931	76345931	Human	1	name
597673881	CV3707317	single nucleotide variant	NM_024685.4(BBS10):c.2041G>T (p.Val681Leu)	Bardet-Biedl syndrome 10 [RCV005005351]	uncertain significance	12	76345944	76345944	Human	1	name
597727418	CV3707318	single nucleotide variant	NM_024685.4(BBS10):c.1927G>A (p.Val643Ile)	Bardet-Biedl syndrome 10 [RCV005011581]	uncertain significance	12	76346058	76346058	Human	1	name
597728054	CV3707319	single nucleotide variant	NM_024685.4(BBS10):c.1897A>G (p.Ile633Val)	Bardet-Biedl syndrome 10 [RCV005011582]	uncertain significance	12	76346088	76346088	Human	1	name
597673255	CV3707320	single nucleotide variant	NM_024685.4(BBS10):c.1775C>A (p.Ser592Ter)	Bardet-Biedl syndrome 10 [RCV005005352]	likely pathogenic	12	76346210	76346210	Human	1	name
597673260	CV3707321	single nucleotide variant	NM_024685.4(BBS10):c.1769T>G (p.Leu590Arg)	Bardet-Biedl syndrome 10 [RCV005005353]	uncertain significance	12	76346216	76346216	Human	1	name
597727444	CV3707322	single nucleotide variant	NM_024685.4(BBS10):c.1694C>A (p.Thr565Lys)	Bardet-Biedl syndrome 10 [RCV005011584]	uncertain significance	12	76346291	76346291	Human	1	name
597673268	CV3707324	single nucleotide variant	NM_024685.4(BBS10):c.1675T>A (p.Tyr559Asn)	Bardet-Biedl syndrome 10 [RCV005005354]	uncertain significance	12	76346310	76346310	Human	1	name
597673278	CV3707326	single nucleotide variant	NM_024685.4(BBS10):c.1657A>G (p.Asn553Asp)	Bardet-Biedl syndrome 10 [RCV005005355]	uncertain significance	12	76346328	76346328	Human	1	name
597727461	CV3707327	single nucleotide variant	NM_024685.4(BBS10):c.1646C>G (p.Ser549Ter)	Bardet-Biedl syndrome 10 [RCV005011586]	likely pathogenic	12	76346339	76346339	Human	1	name
597673295	CV3707328	single nucleotide variant	NM_024685.4(BBS10):c.1598T>A (p.Leu533Gln)	Bardet-Biedl syndrome 10 [RCV005005357]	uncertain significance	12	76346387	76346387	Human	1	name
597673303	CV3707329	single nucleotide variant	NM_024685.4(BBS10):c.1579T>C (p.Ser527Pro)	Bardet-Biedl syndrome 10 [RCV005005358]	uncertain significance	12	76346406	76346406	Human	1	name
597727470	CV3707330	single nucleotide variant	NM_024685.4(BBS10):c.1501G>C (p.Glu501Gln)	Bardet-Biedl syndrome 10 [RCV005011587]	uncertain significance	12	76346484	76346484	Human	1	name
597727479	CV3707331	single nucleotide variant	NM_024685.4(BBS10):c.1429A>G (p.Lys477Glu)	Bardet-Biedl syndrome 10 [RCV005011588]	uncertain significance	12	76346556	76346556	Human	1	name
597673312	CV3707332	single nucleotide variant	NM_024685.4(BBS10):c.1411G>A (p.Asp471Asn)	Bardet-Biedl syndrome 10 [RCV005005359]	uncertain significance	12	76346574	76346574	Human	1	name
597673321	CV3707333	single nucleotide variant	NM_024685.4(BBS10):c.1186T>G (p.Ser396Ala)	Bardet-Biedl syndrome 10 [RCV005005360]	uncertain significance	12	76346799	76346799	Human	1	name
597727487	CV3707336	single nucleotide variant	NM_024685.4(BBS10):c.1118C>T (p.Pro373Leu)	Bardet-Biedl syndrome 10 [RCV005011589]	uncertain significance	12	76346867	76346867	Human	1	name
597673342	CV3707337	single nucleotide variant	NM_024685.4(BBS10):c.1063C>T (p.Gln355Ter)	Bardet-Biedl syndrome 10 [RCV005005362]	likely pathogenic	12	76346922	76346922	Human	1	name
597673349	CV3707338	single nucleotide variant	NM_024685.4(BBS10):c.1013A>G (p.Glu338Gly)	Bardet-Biedl syndrome 10 [RCV005005363]	uncertain significance	12	76346972	76346972	Human	1	name
597728064	CV3707339	single nucleotide variant	NM_024685.4(BBS10):c.1009G>T (p.Glu337Ter)	Bardet-Biedl syndrome 10 [RCV005011590]	likely pathogenic	12	76346976	76346976	Human	1	name
12834979	CV373258	single nucleotide variant	NM_024685.4(BBS10):c.1822A>G (p.Ile608Val)	not provided [RCV000420888]	uncertain significance	12	76346163	76346163	Human		name
598127232	CV3888082	single nucleotide variant	NM_024685.4(BBS10):c.1987C>T (p.His663Tyr)	not provided [RCV005242768]	uncertain significance	12	76345998	76345998	Human		name
598260797	CV3931428	single nucleotide variant	NM_024685.4(BBS10):c.1213G>T (p.Gly405Cys)	Inborn genetic diseases [RCV005300492]	uncertain significance	12	76346772	76346772	Human	1	name
12890457	CV399815	single nucleotide variant	NM_024685.4(BBS10):c.1276A>G (p.Lys426Glu)	BBS10-related disorder [RCV003902642]\|Bardet-Biedl syndrome 10 [RCV001835808]\|Bardet-Biedl syndrome [RCV000474659]	likely benign\|uncertain significance	12	76346709	76346709	Human	2	name , trait , alternate_id
12892733	CV404810	single nucleotide variant	NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter)	BBS10-related disorder [RCV003960121]\|Bardet-Biedl syndrome 10 [RCV000477827]\|Bardet-Biedl syndrome [RCV000818478]\|Retinal dystrophy [RCV001075280]\|not provided [RCV001528233]	pathogenic\|likely pathogenic	12	76346308	76346308	Human	4	name , trait , alternate_id
13216585	CV429449	single nucleotide variant	NM_024685.4(BBS10):c.1495G>T (p.Glu499Ter)	Bardet-Biedl syndrome 10 [RCV000503944]\|Bardet-Biedl syndrome [RCV001192908]	pathogenic\|likely pathogenic	12	76346490	76346490	Human	2	name
13215137	CV429450	single nucleotide variant	NM_024685.4(BBS10):c.1381G>A (p.Gly461Ser)	BBS10-related disorder [RCV004740272]\|Bardet-Biedl syndrome 10 [RCV002496940]\|Bardet-Biedl syndrome [RCV001857077]\|not specified [RCV000502061]	uncertain significance	12	76346604	76346604	Human	2	name , trait , alternate_id
13483065	CV441564	single nucleotide variant	NM_024685.4(BBS10):c.2080T>C (p.Cys694Arg)	not specified [RCV000518048]	uncertain significance	12	76345905	76345905	Human		name
8569278	CV44415	single nucleotide variant	NM_024685.4(BBS10):c.1736A>G (p.Lys579Arg)	Bardet-Biedl syndrome 10 [RCV000675134]\|Bardet-Biedl syndrome [RCV000029402]\|not provided [RCV001753428]\|not specified [RCV000246690]	likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	76346249	76346249	Human	2	name
13483653	CV462472	single nucleotide variant	NM_024685.4(BBS10):c.1918A>G (p.Ile640Val)	Bardet-Biedl syndrome [RCV000552395]	uncertain significance	12	76346067	76346067	Human	1	name
13522138	CV491371	single nucleotide variant	NM_024685.4(BBS10):c.1436C>A (p.Ala479Glu)	BBS10-related disorder [RCV003980090]\|Bardet-Biedl syndrome 10 [RCV000680159]\|Bardet-Biedl syndrome [RCV001244429]\|not provided [RCV000591353]	likely benign\|uncertain significance	12	76346549	76346549	Human	2	name , trait , alternate_id
13532399	CV512035	single nucleotide variant	NM_024685.4(BBS10):c.1804G>T (p.Val602Leu)	Inborn genetic diseases [RCV000624160]	likely pathogenic	12	76346181	76346181	Human	1	name
13531203	CV512036	single nucleotide variant	NM_024685.4(BBS10):c.1250C>A (p.Ala417Glu)	Inborn genetic diseases [RCV000623128]	uncertain significance	12	76346735	76346735	Human	1	name
13606521	CV527371	single nucleotide variant	NM_024685.4(BBS10):c.1333C>A (p.Leu445Ile)	BBS10-related disorder [RCV003945609]\|Bardet-Biedl syndrome 10 [RCV001115136]\|Bardet-Biedl syndrome [RCV000638359]	likely benign\|uncertain significance	12	76346652	76346652	Human	2	name , trait , alternate_id
13783817	CV546695	single nucleotide variant	NM_024685.4(BBS10):c.2077C>T (p.Gln693Ter)	Bardet-Biedl syndrome 10 [RCV000667156]	likely pathogenic	12	76345908	76345908	Human	1	name
13783875	CV546697	single nucleotide variant	NM_024685.4(BBS10):c.2030G>T (p.Gly677Val)	Bardet-Biedl syndrome 10 [RCV000672071]	uncertain significance	12	76345955	76345955	Human	1	name
13783805	CV546855	single nucleotide variant	NM_024685.4(BBS10):c.1829T>G (p.Leu610Ter)	Bardet-Biedl syndrome 10 [RCV000666498]	likely pathogenic	12	76346156	76346156	Human	1	name
13783886	CV546857	single nucleotide variant	NM_024685.4(BBS10):c.1687C>T (p.Gln563Ter)	Bardet-Biedl syndrome 10 [RCV000672892]	likely pathogenic	12	76346298	76346298	Human	1	name
13783799	CV547014	single nucleotide variant	NM_024685.4(BBS10):c.1807G>A (p.Gly603Ser)	Bardet-Biedl syndrome 10 [RCV000665937]	uncertain significance	12	76346178	76346178	Human	1	name
13783789	CV547205	single nucleotide variant	NM_024685.4(BBS10):c.2065A>C (p.Thr689Pro)	Bardet-Biedl syndrome 10 [RCV000665407]\|Bardet-Biedl syndrome [RCV002530655]\|not provided [RCV003332221]\|not specified [RCV005056404]	uncertain significance	12	76345920	76345920	Human	2	name
13783832	CV547210	single nucleotide variant	NM_024685.4(BBS10):c.1250C>T (p.Ala417Val)	Bardet-Biedl syndrome 10 [RCV000668281]\|Bardet-Biedl syndrome [RCV001202294]\|not provided [RCV001093323]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	12	76346735	76346735	Human	2	name
13783840	CV547234	single nucleotide variant	NM_024685.4(BBS10):c.1007C>G (p.Ser336Ter)	Bardet-Biedl syndrome 10 [RCV000668802]	likely pathogenic	12	76346978	76346978	Human	1	name
13794497	CV552165	single nucleotide variant	NM_024685.4(BBS10):c.1767C>A (p.Tyr589Ter)	Bardet-Biedl syndrome 10 [RCV000679936]\|Bardet-Biedl syndrome [RCV001868300]\|not provided [RCV000760514]	pathogenic\|likely pathogenic	12	76346218	76346218	Human	2	name
13802191	CV572037	single nucleotide variant	NM_024685.4(BBS10):c.1490A>T (p.Asp497Val)	Bardet-Biedl syndrome 10 [RCV001274504]\|Bardet-Biedl syndrome [RCV000698200]\|Inborn genetic diseases [RCV004601252]	uncertain significance	12	76346495	76346495	Human	3	name
13812118	CV572041	single nucleotide variant	NM_024685.4(BBS10):c.1144G>C (p.Val382Leu)	Bardet-Biedl syndrome 10 [RCV001276471]\|Bardet-Biedl syndrome [RCV000689197]	uncertain significance	12	76346841	76346841	Human	2	name
14349720	CV576231	single nucleotide variant	NM_024685.4(BBS10):c.1143T>G (p.Tyr381Ter)	Bardet-Biedl syndrome 10 [RCV002485783]\|Bardet-Biedl syndrome [RCV000735923]	pathogenic	12	76346842	76346842	Human	2	name
13835503	CV586762	single nucleotide variant	NM_024685.4(BBS10):c.1088C>T (p.Pro363Leu)	Bardet-Biedl syndrome [RCV002535203]\|not provided [RCV000731326]	uncertain significance	12	76346897	76346897	Human	1	name
14696538	CV613753	duplication	NM_024685.4(BBS10):c.1676dup (p.Tyr559Ter)	BBS10-related disorder [RCV004723160]\|Bardet-Biedl syndrome 10 [RCV001825512]\|Bardet-Biedl syndrome [RCV000782275]	pathogenic	12	76346308	76346309	Human	2	name , trait , alternate_id
14690291	CV621382	single nucleotide variant	NM_024685.4(BBS10):c.1457A>T (p.Tyr486Phe)	Bardet-Biedl syndrome 10 [RCV001835957]\|not specified [RCV000780956]	uncertain significance	12	76346528	76346528	Human	1	name
14689427	CV621383	single nucleotide variant	NM_024685.4(BBS10):c.1407T>G (p.Tyr469Ter)	Bardet-Biedl syndrome 10 [RCV000779832]	pathogenic	12	76346578	76346578	Human	1	name
14689425	CV621384	single nucleotide variant	NM_024685.4(BBS10):c.1126C>G (p.Leu376Val)	Bardet-Biedl syndrome 10 [RCV001272001]\|not specified [RCV000779831]	uncertain significance	12	76346859	76346859	Human	1	name
14746725	CV672028	single nucleotide variant	NM_024685.4(BBS10):c.1871C>G (p.Ser624Ter)	Bardet-Biedl syndrome 10 [RCV000844893]\|Bardet-Biedl syndrome [RCV003768609]	pathogenic\|likely pathogenic	12	76346114	76346114	Human	2	name
15133257	CV684348	single nucleotide variant	NM_024685.4(BBS10):c.1590A>C (p.Arg530Ser)	BBS10-related disorder [RCV003928362]\|Bardet-Biedl syndrome 10 [RCV001112170]\|Bardet-Biedl syndrome [RCV000863934]\|not provided [RCV001355061]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	76346395	76346395	Human	2	name , trait , alternate_id
15115011	CV684349	single nucleotide variant	NM_024685.4(BBS10):c.1412A>T (p.Asp471Val)	Bardet-Biedl syndrome 10 [RCV001274505]\|Bardet-Biedl syndrome [RCV000860647]	likely benign\|uncertain significance	12	76346573	76346573	Human	2	name
15147546	CV688049	single nucleotide variant	NM_024685.4(BBS10):c.1265G>A (p.Arg422Gln)	BBS10-related disorder [RCV003965709]\|Bardet-Biedl syndrome 10 [RCV001825730]\|Bardet-Biedl syndrome [RCV000866478]\|not provided [RCV004707432]	benign\|likely benign\|uncertain significance	12	76346720	76346720	Human	2	name , trait , alternate_id
15126849	CV693286	single nucleotide variant	NM_024685.4(BBS10):c.1975A>T (p.Ile659Leu)	BBS10-related ciliopathy [RCV005359633]\|BBS10-related disorder [RCV003948225]\|Bardet-Biedl syndrome 10 [RCV001111720]\|Bardet-Biedl syndrome [RCV000875201]	benign\|likely benign\|uncertain significance	12	76346010	76346010	Human	2	name , trait , alternate_id
8623876	CV78954	single nucleotide variant	NM_024685.4(BBS10):c.1202G>A (p.Gly401Glu)	Bardet-Biedl syndrome 10 [RCV000058867]\|Bardet-Biedl syndrome [RCV003221799]	pathogenic\|likely pathogenic	12	76346783	76346783	Human	2	name
21072424	CV791276	single nucleotide variant	NM_024685.4(BBS10):c.1418T>C (p.Val473Ala)	Bardet-Biedl syndrome 10 [RCV000988873]	uncertain significance	12	76346567	76346567	Human	1	name
26886731	CV840277	single nucleotide variant	NM_024685.4(BBS10):c.2091A>C (p.Lys697Asn)	Bardet-Biedl syndrome [RCV001066249]	uncertain significance	12	76345894	76345894	Human	1	name
26920026	CV840278	single nucleotide variant	NM_024685.4(BBS10):c.1871C>T (p.Ser624Leu)	Bardet-Biedl syndrome [RCV001059565]	uncertain significance	12	76346114	76346114	Human	1	name
26889213	CV840279	single nucleotide variant	NM_024685.4(BBS10):c.1804G>C (p.Val602Leu)	BBS10-related disorder [RCV004740557]\|Bardet-Biedl syndrome 1 [RCV003229015]\|Bardet-Biedl syndrome 10 [RCV003462601]\|Bardet-Biedl syndrome [RCV001067371]	pathogenic\|likely pathogenic	12	76346181	76346181	Human	3	name , trait , alternate_id
26892326	CV840280	single nucleotide variant	NM_024685.4(BBS10):c.1742C>T (p.Pro581Leu)	BBS10-related disorder [RCV003413889]\|Bardet-Biedl syndrome 10 [RCV001827453]\|Bardet-Biedl syndrome [RCV001068635]	uncertain significance	12	76346243	76346243	Human	2	name , trait , alternate_id
26914653	CV840281	single nucleotide variant	NM_024685.4(BBS10):c.1678G>A (p.Glu560Lys)	BBS10-related disorder [RCV003393818]\|Bardet-Biedl syndrome 10 [RCV001832502]\|Bardet-Biedl syndrome [RCV001055130]	uncertain significance	12	76346307	76346307	Human	2	name , trait , alternate_id
26923289	CV840282	single nucleotide variant	NM_024685.4(BBS10):c.1640C>A (p.Ala547Asp)	BBS10-related disorder [RCV004740555]\|Bardet-Biedl syndrome 10 [RCV001833622]\|Bardet-Biedl syndrome [RCV001063673]\|Inborn genetic diseases [RCV002555826]	uncertain significance	12	76346345	76346345	Human	3	name , trait , alternate_id
26899240	CV840283	single nucleotide variant	NM_024685.4(BBS10):c.1552C>T (p.Gln518Ter)	Bardet-Biedl syndrome [RCV001070903]	pathogenic	12	76346433	76346433	Human	1	name
26920447	CV840284	single nucleotide variant	NM_024685.4(BBS10):c.1258A>C (p.Met420Leu)	Bardet-Biedl syndrome [RCV001059984]	uncertain significance	12	76346727	76346727	Human	1	name
26917168	CV840285	single nucleotide variant	NM_024685.4(BBS10):c.1211A>G (p.His404Arg)	Bardet-Biedl syndrome 10 [RCV001832410]\|Bardet-Biedl syndrome [RCV001042472]	uncertain significance	12	76346774	76346774	Human	2	name
26896671	CV840286	single nucleotide variant	NM_024685.4(BBS10):c.1112G>C (p.Cys371Ser)	Bardet-Biedl syndrome [RCV001070000]	uncertain significance	12	76346873	76346873	Human	1	name
26886635	CV840287	single nucleotide variant	NM_024685.4(BBS10):c.1025T>C (p.Ile342Thr)	Bardet-Biedl syndrome [RCV001044354]\|not provided [RCV004761898]	uncertain significance	12	76346960	76346960	Human	1	name
34892227	CV855849	single nucleotide variant	NM_024685.4(BBS10):c.1016T>A (p.Val339Asp)	Bardet-Biedl syndrome [RCV001172268]	pathogenic	12	76346969	76346969	Human	1	name
28867293	CV870463	single nucleotide variant	NM_024685.4(BBS10):c.1893G>C (p.Met631Ile)	Bardet-Biedl syndrome 10 [RCV001111721]	uncertain significance	12	76346092	76346092	Human	1	name
28867977	CV870465	single nucleotide variant	NM_024685.4(BBS10):c.1516T>A (p.Tyr506Asn)	Bardet-Biedl syndrome 10 [RCV001112172]\|Bardet-Biedl syndrome [RCV001320622]	uncertain significance	12	76346469	76346469	Human	2	name
28873676	CV870466	single nucleotide variant	NM_024685.4(BBS10):c.1465G>C (p.Val489Leu)	Bardet-Biedl syndrome 10 [RCV001115134]	uncertain significance	12	76346520	76346520	Human	1	name
28873680	CV870467	single nucleotide variant	NM_024685.4(BBS10):c.1339A>G (p.Ile447Val)	BBS10-related disorder [RCV004740572]\|Bardet-Biedl syndrome 10 [RCV001115135]\|Bardet-Biedl syndrome [RCV002556258]	uncertain significance	12	76346646	76346646	Human	2	name , trait , alternate_id
34891399	CV906091	single nucleotide variant	NM_024685.4(BBS10):c.1184A>G (p.His395Arg)	Bardet-Biedl syndrome 10 [RCV003462643]\|Bardet-Biedl syndrome [RCV001175029]	pathogenic\|likely pathogenic	12	76346801	76346801	Human	2	name
38483546	CV926737	single nucleotide variant	NM_024685.4(BBS10):c.1595G>A (p.Arg532Lys)	BBS10-related disorder [RCV003405404]\|Bardet-Biedl syndrome 10 [RCV001833900]\|Bardet-Biedl syndrome [RCV001218998]\|Inborn genetic diseases [RCV002562467]	uncertain significance	12	76346390	76346390	Human	3	name , trait , alternate_id
38479061	CV948160	single nucleotide variant	NM_024685.4(BBS10):c.1588A>G (p.Arg530Gly)	Bardet-Biedl syndrome [RCV001234155]	uncertain significance	12	76346397	76346397	Human	1	name
38480787	CV948162	single nucleotide variant	NM_024685.4(BBS10):c.1400G>A (p.Arg467Lys)	Bardet-Biedl syndrome 10 [RCV001834033]\|Bardet-Biedl syndrome [RCV001234851]	uncertain significance	12	76346585	76346585	Human	2	name
38481026	CV948163	single nucleotide variant	NM_024685.4(BBS10):c.1228C>T (p.His410Tyr)	Bardet-Biedl syndrome 10 [RCV001834034]\|Bardet-Biedl syndrome [RCV001234944]	uncertain significance	12	76346757	76346757	Human	2	name
38457201	CV956942	single nucleotide variant	NM_024685.4(BBS10):c.2156C>G (p.Ser719Ter)	Bardet-Biedl syndrome [RCV001246007]	uncertain significance	12	76345829	76345829	Human	1	name
38498390	CV956943	single nucleotide variant	NM_024685.4(BBS10):c.1969A>G (p.Thr657Ala)	BBS10-related disorder [RCV003414057]\|Bardet-Biedl syndrome 10 [RCV001829911]\|Bardet-Biedl syndrome [RCV001243795]	uncertain significance	12	76346016	76346016	Human	2	name , trait , alternate_id
38491912	CV956944	single nucleotide variant	NM_024685.4(BBS10):c.1837T>C (p.Tyr613His)	BBS10-related disorder [RCV003414041]\|Bardet-Biedl syndrome 10 [RCV001828936]\|Bardet-Biedl syndrome [RCV001239753]	likely pathogenic\|uncertain significance	12	76346148	76346148	Human	2	name , trait , alternate_id
38460432	CV956945	single nucleotide variant	NM_024685.4(BBS10):c.1700T>C (p.Ile567Thr)	BBS10-related disorder [RCV003405450]\|Bardet-Biedl syndrome 10 [RCV001829997]\|Bardet-Biedl syndrome [RCV001246747]	uncertain significance	12	76346285	76346285	Human	2	name , trait , alternate_id
38494150	CV956946	single nucleotide variant	NM_024685.4(BBS10):c.1154G>A (p.Gly385Asp)	BBS10-related disorder [RCV003414047]\|Bardet-Biedl syndrome 10 [RCV001835094]\|Bardet-Biedl syndrome [RCV001241149]\|Inborn genetic diseases [RCV004034671]	uncertain significance	12	76346831	76346831	Human	3	name , trait , alternate_id
40905529	CV979295	single nucleotide variant	NM_024685.4(BBS10):c.1865A>G (p.His622Arg)	Bardet-Biedl syndrome 10 [RCV001278738]	uncertain significance	12	76346120	76346120	Human	1	name
40905530	CV979296	single nucleotide variant	NM_024685.4(BBS10):c.1856A>G (p.Lys619Arg)	Bardet-Biedl syndrome 10 [RCV001278739]\|Bardet-Biedl syndrome [RCV002542906]\|Inborn genetic diseases [RCV004601429]	uncertain significance	12	76346129	76346129	Human	3	name
40905533	CV979299	single nucleotide variant	NM_024685.4(BBS10):c.1418T>A (p.Val473Asp)	Bardet-Biedl syndrome 10 [RCV001278742]	uncertain significance	12	76346567	76346567	Human	1	name
40905534	CV979300	single nucleotide variant	NM_024685.4(BBS10):c.1325C>T (p.Thr442Ile)	Bardet-Biedl syndrome 10 [RCV001278743]\|Bardet-Biedl syndrome [RCV005094310]\|Inborn genetic diseases [RCV002537809]	uncertain significance	12	76346660	76346660	Human	3	name
40905535	CV979301	single nucleotide variant	NM_024685.4(BBS10):c.1181C>A (p.Pro394Gln)	Bardet-Biedl syndrome 10 [RCV001278744]	uncertain significance	12	76346804	76346804	Human	1	name
126762600	CV995378	single nucleotide variant	NM_024685.4(BBS10):c.1604A>T (p.Asp535Val)	Bardet-Biedl syndrome [RCV001309936]	uncertain significance	12	76346381	76346381	Human	1	name
243061711	CV2406616	duplication	NM_024685.4(BBS10):c.157_170dup (p.Leu58fs)	Bardet-Biedl syndrome 10 [RCV003138957]	likely pathogenic	12	76348188	76348189	Human	1	name
401946497	CV2833705	duplication	NM_024685.4(BBS10):c.171_174dup (p.His59fs)	Bardet-Biedl syndrome 10 [RCV003465040]	likely pathogenic	12	76348184	76348185	Human	1	name
405870443	CV3399851	deletion	NM_024685.4(BBS10):c.258_261del (p.Phe86fs)	Bardet-Biedl syndrome 10 [RCV004573999]	likely pathogenic	12	76347724	76347727	Human	1	name
12740021	CV358126	microsatellite	NM_024685.4(BBS10):c.214_215del (p.Val72fs)	Bardet-Biedl syndrome 10 [RCV000410999]	likely pathogenic	12	76347770	76347771	Human		name
12739218	CV358127	microsatellite	NM_024685.4(BBS10):c.214_215dup (p.Ser73fs)	Bardet-Biedl syndrome 10 [RCV000409141]	likely pathogenic	12	76347769	76347770	Human		name
12885918	CV399558	deletion	NM_024685.4(BBS10):c.257_261del (p.Phe86fs)	Bardet-Biedl syndrome [RCV000466285]	pathogenic	12	76347724	76347728	Human	1	name
13783848	CV547260	duplication	NM_024685.4(BBS10):c.251_257dup (p.Phe86fs)	Bardet-Biedl syndrome 10 [RCV000669881]	likely pathogenic	12	76347727	76347728	Human	1	name
127239728	CV1062715	microsatellite	NM_024685.4(BBS10):c.455_456del (p.His152fs)	Bardet-Biedl syndrome [RCV001383308]	pathogenic	12	76347529	76347530	Human		name
127250022	CV1062717	deletion	NM_024685.4(BBS10):c.313_314del (p.Lys105fs)	Bardet-Biedl syndrome [RCV001385224]	pathogenic	12	76347671	76347672	Human	1	name
150330676	CV1168683	indel	NM_024685.4(BBS10):c.9_15delinsGC (p.Ser3fs)	Bardet-Biedl syndrome 10 [RCV001535981]\|Bardet-Biedl syndrome [RCV003155416]\|not provided [RCV005429353]	pathogenic\|likely pathogenic	12	76348344	76348350	Human		name
151348918	CV1324274	deletion	NM_024685.4(BBS10):c.804_805del (p.Ser269fs)	Bardet-Biedl syndrome 10 [RCV001808191]\|Bardet-Biedl syndrome [RCV002542433]\|not provided [RCV002508819]	pathogenic\|likely pathogenic	12	76347180	76347181	Human	2	name
151809202	CV1476368	microsatellite	NM_024685.4(BBS10):c.310_311del (p.Glu104fs)	Bardet-Biedl syndrome 10 [RCV003464179]\|Bardet-Biedl syndrome [RCV001899778]	pathogenic\|likely pathogenic	12	76347674	76347675	Human		name
10041645	CV186852	deletion	NM_024685.4(BBS10):c.728_731del (p.Lys243fs)	BBS10-related disorder [RCV004739550]\|Bardet-Biedl syndrome 10 [RCV000169474]\|Bardet-Biedl syndrome [RCV000638365]\|not provided [RCV004719733]	pathogenic\|likely pathogenic	12	76347254	76347257	Human	2	name , trait , alternate_id
156180872	CV1924461	deletion	NM_024685.4(BBS10):c.482_497del (p.Lys161fs)	Bardet-Biedl syndrome [RCV002625035]	pathogenic	12	76347488	76347503	Human	1	name
11558326	CV260913	microsatellite	NM_024685.4(BBS10):c.959_962del (p.Ser320fs)	Asphyxiating thoracic dystrophy 3 [RCV000256445]\|Bardet-Biedl syndrome 10 [RCV000672454]\|Bardet-Biedl syndrome [RCV001382046]	pathogenic\|likely pathogenic	12	76347023	76347026	Human		name
401946363	CV2833696	microsatellite	NM_024685.4(BBS10):c.844_845del (p.Gln282fs)	Bardet-Biedl syndrome 10 [RCV003465031]	likely pathogenic	12	76347140	76347141	Human		name
401946353	CV2833697	insertion	NM_024685.4(BBS10):c.254_255insG (p.Phe86fs)	Bardet-Biedl syndrome 10 [RCV003465032]	likely pathogenic	12	76347730	76347731	Human	1	name
401946508	CV2833702	microsatellite	NM_024685.4(BBS10):c.488_489del (p.Arg163fs)	Bardet-Biedl syndrome 10 [RCV003465037]\|Bardet-Biedl syndrome [RCV005100251]	pathogenic\|likely pathogenic	12	76347496	76347497	Human		name
405072588	CV2855648	deletion	NM_024685.4(BBS10):c.308_312del (p.Arg103fs)	Bardet-Biedl syndrome [RCV003523955]	pathogenic	12	76347673	76347677	Human	1	name
404992672	CV2898015	deletion	NM_024685.4(BBS10):c.466_467del (p.Ile156fs)	Bardet-Biedl syndrome 10 [RCV004574088]\|Bardet-Biedl syndrome [RCV003525248]	pathogenic\|likely pathogenic	12	76347518	76347519	Human	2	name
405079551	CV2913369	duplication	NM_024685.4(BBS10):c.708_711dup (p.Gly238fs)	Bardet-Biedl syndrome [RCV003524449]	pathogenic	12	76347273	76347274	Human	1	name
405082283	CV3062220	duplication	NM_024685.4(BBS10):c.894_897dup (p.His300fs)	Bardet-Biedl syndrome [RCV003634122]	pathogenic	12	76347087	76347088	Human	1	name
402469741	CV3174804	deletion	NM_024685.4(BBS10):c.725_737del (p.Gln242fs)	Bardet-Biedl syndrome 10 [RCV005013266]\|Bardet-Biedl syndrome [RCV003873914]	pathogenic\|likely pathogenic	12	76347248	76347260	Human	2	name
12740377	CV358119	microsatellite	NM_024685.4(BBS10):c.858_859dup (p.Gln287fs)	Bardet-Biedl syndrome 10 [RCV000411839]\|not provided [RCV000658658]	likely pathogenic	12	76347125	76347126	Human		name
12740189	CV358121	microsatellite	NM_024685.4(BBS10):c.568_571del (p.Ile190fs)	Bardet-Biedl syndrome 10 [RCV000411390]\|Bardet-Biedl syndrome [RCV002523848]\|not provided [RCV005241359]	pathogenic\|likely pathogenic	12	76347414	76347417	Human		name
12740560	CV358125	deletion	NM_024685.4(BBS10):c.299_305del (p.Ile100fs)	Bardet-Biedl syndrome 10 [RCV000412329]	likely pathogenic	12	76347680	76347686	Human	1	name
597673377	CV3707344	microsatellite	NM_024685.4(BBS10):c.799_800del (p.Leu267fs)	Bardet-Biedl syndrome 10 [RCV005005366]	likely pathogenic	12	76347185	76347186	Human		name
597673440	CV3707362	deletion	NM_024685.4(BBS10):c.400_401del (p.Leu134fs)	Bardet-Biedl syndrome 10 [RCV005005373]	likely pathogenic	12	76347584	76347585	Human	1	name
597842671	CV3775186	deletion	NM_024685.4(BBS10):c.526_530del (p.Ala176fs)	Bardet-Biedl syndrome [RCV005118012]	pathogenic	12	76347455	76347459	Human	1	name
13211700	CV426019	deletion	NM_024685.4(BBS10):c.909_912del (p.Ser303fs)	BBS10-related disorder [RCV003403151]\|Bardet-Biedl syndrome 10 [RCV000984153]\|Bardet-Biedl syndrome [RCV000811417]\|Bardet-biedl syndrome 1/10, digenic [RCV002508143]\|not provided [RCV000497796]	pathogenic\|likely pathogenic	12	76347073	76347076	Human	2	name , trait , alternate_id
13783797	CV547044	deletion	NM_024685.4(BBS10):c.784_785del (p.Glu262fs)	Bardet-Biedl syndrome 10 [RCV000665838]	pathogenic\|likely pathogenic	12	76347200	76347201	Human	1	name
13783896	CV547255	deletion	NM_024685.4(BBS10):c.534_535del (p.Phe178fs)	Bardet-Biedl syndrome 10 [RCV000674192]	likely pathogenic	12	76347450	76347451	Human	1	name
25319838	CV805755	microsatellite	NM_024685.4(BBS10):c.306_309del (p.Asp102fs)	Bardet-Biedl syndrome 10 [RCV004569854]\|Bardet-Biedl syndrome [RCV001860600]\|not provided [RCV001009077]	pathogenic\|likely pathogenic	12	76347676	76347679	Human		name
38462076	CV948166	microsatellite	NM_024685.4(BBS10):c.587ACT[1] (p.Tyr197del)	Bardet-Biedl syndrome 10 [RCV002497781]\|Bardet-Biedl syndrome [RCV001229655]	pathogenic\|uncertain significance	12	76347393	76347395	Human		name
151746359	CV1462197	deletion	NM_024685.4(BBS10):c.524_526del (p.Glu175del)	Bardet-Biedl syndrome [RCV001968683]	uncertain significance	12	76347459	76347461	Human	1	name
9688583	CV177506	deletion	NM_024685.3(BBS10):c.1090delA (p.Asn364Thrfs)	Bardet-Biedl syndrome [RCV000152828]	pathogenic	12	76346895	76346895	Human		name
13530281	CV512037	deletion	NM_024685.4(BBS10):c.899_901del (p.His300del)	Inborn genetic diseases [RCV000622383]	uncertain significance	12	76347084	76347086	Human	1	name
13783831	CV546722	microsatellite	NM_024685.4(BBS10):c.1003TCA[1] (p.Ser336del)	Bardet-Biedl syndrome 10 [RCV000668187]	uncertain significance	12	76346977	76346979	Human		name
14349724	CV576236	deletion	NM_024685.4(BBS10):c.559_561del (p.His187del)	Bardet-Biedl syndrome [RCV000735926]	pathogenic	12	76347424	76347426	Human	1	name
26919454	CV840288	microsatellite	NM_024685.4(BBS10):c.1010AAG[1] (p.Glu338del)	BBS10-related disorder [RCV004740553]\|Bardet-Biedl syndrome 10 [RCV001836099]\|Bardet-Biedl syndrome [RCV001058989]\|Retinal dystrophy [RCV004813656]	likely pathogenic\|uncertain significance	12	76346970	76346972	Human		name , trait , alternate_id
151893230	CV1337977	deletion	NM_024685.4(BBS10):c.1814_1815del (p.Asn605fs)	Bardet-Biedl syndrome [RCV001944862]	pathogenic	12	76346170	76346171	Human	1	name
151761006	CV1380311	deletion	NM_024685.4(BBS10):c.1290_1293del (p.Asn431fs)	Bardet-Biedl syndrome [RCV001970183]	pathogenic	12	76346692	76346695	Human	1	name
151714014	CV1451264	deletion	NM_024685.4(BBS10):c.1335_1338del (p.Tyr448fs)	Bardet-Biedl syndrome 10 [RCV003464294]\|Bardet-Biedl syndrome [RCV002002566]	pathogenic\|likely pathogenic	12	76346647	76346650	Human	2	name
151879662	CV1506330	deletion	NM_024685.4(BBS10):c.1556_1557del (p.Thr519fs)	Bardet-Biedl syndrome [RCV001886290]	pathogenic	12	76346428	76346429	Human	1	name
10041643	CV186848	deletion	NM_024685.4(BBS10):c.1599_1602del (p.Thr534fs)	BBS10-related disorder [RCV003927566]\|Bardet-Biedl syndrome 10 [RCV000169372]\|Bardet-Biedl syndrome [RCV001204588]	pathogenic\|likely pathogenic	12	76346383	76346386	Human	2	name , trait , alternate_id
10041647	CV186849	deletion	NM_024685.4(BBS10):c.1448_1452del (p.Thr483fs)	Bardet-Biedl syndrome 10 [RCV000169519]\|Bardet-Biedl syndrome [RCV003522941]	pathogenic\|likely pathogenic	12	76346533	76346537	Human	2	name
156134010	CV2097258	microsatellite	NM_024685.4(BBS10):c.1795_1796del (p.Val599fs)	Bardet-Biedl syndrome [RCV002890055]	pathogenic	12	76346189	76346190	Human		name
11039892	CV214075	deletion	NM_024685.4(BBS10):c.1856_1865del (p.Lys619fs)	Bardet-Biedl syndrome 10 [RCV000207911]	pathogenic	12	76346120	76346129	Human	1	name
329351124	CV2476274	microsatellite	NM_024685.4(BBS10):c.1341_1344del (p.Tyr448fs)	Bardet-Biedl syndrome [RCV003222515]	pathogenic	12	76346641	76346644	Human		name
11633829	CV272492	microsatellite	NM_024685.4(BBS10):c.1510_1511del (p.Ile504fs)	BBS10-related disorder [RCV004739661]\|Bardet-Biedl syndrome 10 [RCV000371245]\|Bardet-Biedl syndrome [RCV001207355]\|not provided [RCV000726137]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	12	76346474	76346475	Human		name , trait , alternate_id
401797796	CV2742346	deletion	NM_024685.4(BBS10):c.1555_1564del (p.Thr519fs)	Bardet-Biedl syndrome 10 [RCV003324639]	pathogenic	12	76346421	76346430	Human	1	name
401946345	CV2833692	deletion	NM_024685.4(BBS10):c.1654_1655del (p.Gly552fs)	Bardet-Biedl syndrome 10 [RCV003465027]	likely pathogenic	12	76346330	76346331	Human	1	name
401946512	CV2833700	duplication	NM_024685.4(BBS10):c.1526_1527dup (p.Thr510fs)	Bardet-Biedl syndrome 10 [RCV003465035]	likely pathogenic	12	76346457	76346458	Human	1	name
401949553	CV2833707	deletion	NM_024685.4(BBS10):c.1554_1557del (p.Thr519fs)	Bardet-Biedl syndrome 10 [RCV003474312]	likely pathogenic	12	76346428	76346431	Human	1	name
404993390	CV2898909	deletion	NM_024685.4(BBS10):c.1892_1896del (p.Met631fs)	Bardet-Biedl syndrome 10 [RCV005013033]\|Bardet-Biedl syndrome [RCV003525332]	pathogenic\|likely pathogenic	12	76346089	76346093	Human	2	name
404986766	CV2917460	deletion	NM_024685.4(BBS10):c.1971_1975del (p.Tyr658fs)	Bardet-Biedl syndrome [RCV003524628]	pathogenic	12	76346010	76346014	Human	1	name
405870430	CV3399847	microsatellite	NM_024685.4(BBS10):c.1457_1458del (p.Tyr486fs)	Bardet-Biedl syndrome 10 [RCV004573995]	likely pathogenic	12	76346527	76346528	Human		name
405870444	CV3399852	deletion	NM_024685.4(BBS10):c.2026_2029del (p.Thr676fs)	Bardet-Biedl syndrome 10 [RCV004574000]	likely pathogenic	12	76345956	76345959	Human	1	name
405870447	CV3399854	deletion	NM_024685.4(BBS10):c.1890_1905del (p.Ser630fs)	Bardet-Biedl syndrome 10 [RCV004574002]	likely pathogenic	12	76346080	76346095	Human	1	name
12739385	CV358110	microsatellite	NM_024685.4(BBS10):c.1664_1668del (p.Ile555fs)	Bardet-Biedl syndrome 10 [RCV000409496]	likely pathogenic	12	76346317	76346321	Human		name
12739553	CV358114	deletion	NM_024685.4(BBS10):c.1236_1248del (p.Asp412fs)	Bardet-Biedl syndrome 10 [RCV000409876]\|Bardet-Biedl syndrome [RCV002523871]	pathogenic\|likely pathogenic	12	76346737	76346749	Human	2	name
12739343	CV358115	microsatellite	NM_024685.4(BBS10):c.1190_1191del (p.Ile397fs)	Bardet-Biedl syndrome 10 [RCV000409409]	likely pathogenic	12	76346794	76346795	Human		name
12739925	CV358118	deletion	NM_024685.4(BBS10):c.1012_1013del (p.Glu338fs)	Bardet-Biedl syndrome 10 [RCV000410766]	likely pathogenic	12	76346972	76346973	Human	1	name
8568606	CV39774	deletion	NM_024685.4(BBS10):c.1044_1045del (p.Pro350fs)	Bardet-Biedl syndrome 10 [RCV000023802]\|Bardet-Biedl syndrome [RCV000735922]	pathogenic	12	76346940	76346941	Human	2	name
13520332	CV495546	deletion	NM_024685.4(BBS10):c.2137_2140del (p.Lys713fs)	Bardet-Biedl syndrome 10 [RCV003471969]\|not provided [RCV000598549]	likely pathogenic\|uncertain significance	12	76345845	76345848	Human	1	name
13783845	CV546724	insertion	NM_024685.4(BBS10):c.745_746insTA (p.Arg249fs)	Bardet-Biedl syndrome 10 [RCV000669080]\|Bardet-Biedl syndrome [RCV005056411]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	12	76347239	76347240	Human	2	name
13783847	CV546877	microsatellite	NM_024685.4(BBS10):c.1187_1188del (p.Ser396fs)	Bardet-Biedl syndrome 10 [RCV000669385]\|Bardet-Biedl syndrome [RCV003767974]	pathogenic\|likely pathogenic	12	76346797	76346798	Human		name
13783812	CV547039	duplication	NM_024685.4(BBS10):c.1143_1147dup (p.His383fs)	Bardet-Biedl syndrome 10 [RCV000666905]	likely pathogenic	12	76346837	76346838	Human	1	name
13783795	CV547209	indel	NM_024685.4(BBS10):c.1491delinsGA (p.Asp497fs)	Bardet-Biedl syndrome 10 [RCV000665681]	likely pathogenic	12	76346494	76346494	Human		name
13816216	CV567065	deletion	NM_024685.4(BBS10):c.1452_1455del (p.Gln484fs)	Bardet-Biedl syndrome [RCV000692177]	pathogenic	12	76346530	76346533	Human	1	name
28906777	CV801434	deletion	NM_024685.4(BBS10):c.1603_1606del (p.Asp535fs)	Bardet-Biedl syndrome [RCV001199432]\|not provided [RCV001093322]	pathogenic	12	76346379	76346382	Human	1	name
38480883	CV948161	deletion	NM_024685.4(BBS10):c.1514_1520del (p.Pro505fs)	Bardet-Biedl syndrome [RCV001234884]	pathogenic	12	76346465	76346471	Human	1	name
38598745	CV963363	deletion	NM_024685.4(BBS10):c.1337_1338del (p.Phe446fs)	Bardet-Biedl syndrome 10 [RCV001251482]	pathogenic\|likely pathogenic\|uncertain significance	12	76346647	76346648	Human	1	name
126745836	CV976131	deletion	NM_024685.4(BBS10):c.2122_2123del (p.Lys708fs)	Bardet-Biedl syndrome [RCV001328243]	pathogenic\|likely pathogenic	12	76345862	76345863	Human	1	name
156351740	CV1926775	inversion	NM_024685.4(BBS10):c.1009_1010inv (p.Glu337Ser)	Bardet-Biedl syndrome 10 [RCV005011072]\|Bardet-Biedl syndrome [RCV002650943]\|not provided [RCV004765690]	uncertain significance	12	76346975	76346976	Human		name
156016785	CV2155115	deletion	NM_024685.4(BBS10):c.1673_1675del (p.Ser558del)	Bardet-Biedl syndrome [RCV003018032]	uncertain significance	12	76346310	76346312	Human	1	name
401946504	CV2833703	indel	NM_024685.4(BBS10):c.22_35delinsTCAG (p.Ala8fs)	Bardet-Biedl syndrome 10 [RCV003465038]	likely pathogenic	12	76348324	76348337	Human		name
13211901	CV426020	indel	NM_024685.4(BBS10):c.83_84delinsAG (p.Cys28Ter)	Bardet-Biedl syndrome 10 [RCV000984151]\|not provided [RCV000498071]	pathogenic\|likely pathogenic	12	76348275	76348276	Human		name
401949556	CV2833712	insertion	NM_024685.4(BBS10):c.1623_1624insGT (p.Lys542fs)	Bardet-Biedl syndrome 10 [RCV003474317]\|Bardet-Biedl syndrome [RCV003523198]	pathogenic\|likely pathogenic	12	76346361	76346362	Human	2	name
405093774	CV2996951	insertion	NM_024685.4(BBS10):c.448_449insAGGT (p.Ser150fs)	Bardet-Biedl syndrome [RCV003635100]	pathogenic	12	76347536	76347537	Human	1	name
405870441	CV3399850	indel	NM_024685.4(BBS10):c.640_653delinsA (p.Val214fs)	Bardet-Biedl syndrome 10 [RCV004573998]	likely pathogenic	12	76347332	76347345	Human		name
13783858	CV547238	insertion	NM_024685.4(BBS10):c.1000_1001insGA (p.Leu334Ter)	Bardet-Biedl syndrome 10 [RCV000670552]	likely pathogenic	12	76346984	76346985	Human	1	name
151737029	CV1380012	deletion	NM_024685.4(BBS10):c.953del (p.Asp317_Leu318insTer)	Bardet-Biedl syndrome [RCV001946697]	pathogenic	12	76347032	76347032	Human	1	name
40888104	CV974496	deletion	NM_024685.4(BBS10):c.9_14del (p.Ser3_Met5delinsArg)	Bardet-Biedl syndrome 10 [RCV001267655]\|Bardet-Biedl syndrome [RCV002537702]	pathogenic\|uncertain significance	12	76348345	76348350	Human	2	name
13517956	CV487588	deletion	NM_024685.4(BBS10):c.1677del (p.Ser558_Tyr559insTer)	BBS10-related disorder [RCV003392426]\|Bardet-Biedl syndrome 10 [RCV000984154]\|Bardet-Biedl syndrome [RCV000586002]\|Retinal dystrophy [RCV004817789]	pathogenic\|likely pathogenic	12	76346308	76346308	Human	4	name , trait , alternate_id
13523490	CV490986	indel	NM_024685.4(BBS10):c.2123_2126delinsGGA (p.Lys708fs)	not provided [RCV000593068]	uncertain significance	12	76345859	76345862	Human		name
408370336	CV3508964	deletion	NM_024685.4(BBS10):c.1570_1581del (p.Thr524_Ser527del)	BBS10-related disorder [RCV004739174]	uncertain significance	12	76346404	76346415	Human		name , trait , alternate_id
13783868	CV546865	deletion	NM_024685.4(BBS10):c.1337_1342del (p.Phe446_Ile447del)	Bardet-Biedl syndrome 10 [RCV000671326]	uncertain significance	12	76346643	76346648	Human	1	name
405053153	CV2884346	deletion	NM_024685.4(BBS10):c.643_655del (p.Val214_Asp215insTer)	Bardet-Biedl syndrome [RCV003522320]	pathogenic	12	76347330	76347342	Human	1	name
597727563	CV3707351	deletion	NM_024685.4(BBS10):c.625_632del (p.Ile208_Gly209insTer)	Bardet-Biedl syndrome 10 [RCV005011598]	likely pathogenic	12	76347353	76347360	Human	1	name
12883156	CV399055	deletion	NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer)	Bardet-Biedl syndrome 10 [RCV000665753]\|Bardet-Biedl syndrome [RCV000461059]\|Retinal dystrophy [RCV001074511]\|not provided [RCV001731689]	pathogenic\|likely pathogenic	12	76345865	76345866	Human	4	name
155981485	CV2098041	deletion	NM_024685.4(BBS10):c.864_872del (p.Phe288_Met291delinsLeu)	Bardet-Biedl syndrome [RCV002907727]	uncertain significance	12	76347113	76347121	Human	1	name
401949460	CV2833715	microsatellite	NM_024685.4(BBS10):c.330_331del (p.Cys110_Glu111delinsTer)	Bardet-Biedl syndrome 10 [RCV003474320]	likely pathogenic	12	76347654	76347655	Human		name
408371523	CV3515965	duplication	NM_024685.4(BBS10):c.669_674dup (p.Val225_Thr226insGlyVal)	BBS10-related disorder [RCV004740821]	likely pathogenic	12	76347310	76347311	Human		name , trait , alternate_id
151739013	CV1379288	microsatellite	NM_024685.4(BBS10):c.1080_1081del (p.Cys360_Glu361delinsTer)	Bardet-Biedl syndrome [RCV001911742]	pathogenic	12	76346904	76346905	Human		name

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