Bbs4 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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835 records found for search term Bbs4

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8601369	CV34585	single nucleotide variant	NM_033028.5(BBS4):c.-6G>A	Bardet-Biedl syndrome [RCV000020937]	benign	15	72686222	72686222	Human	1	name
8601371	CV34587	single nucleotide variant	NM_033028.5(BBS4):c.*1G>C	Bardet-Biedl syndrome 4 [RCV001094366]\|Bardet-Biedl syndrome [RCV000020939]\|not specified [RCV000253811]	benign\|likely benign\|conflicting interpretations of pathogenicity	15	72737588	72737588	Human	2	name
408375649	CV3510200	single nucleotide variant	NM_033028.5(BBS4):c.*3A>T	BBS4-related disorder [RCV004748182]	likely benign	15	72737590	72737590	Human		name , trait , alternate_id
408376380	CV3513536	single nucleotide variant	NM_033028.5(BBS4):c.*5A>G	BBS4-related disorder [RCV004749095]	likely benign	15	72737592	72737592	Human		name , trait , alternate_id
408376610	CV3515210	single nucleotide variant	NM_033028.5(BBS4):c.-8G>C	BBS4-related disorder [RCV004749326]	likely benign	15	72686220	72686220	Human		name , trait , alternate_id
13834864	CV586114	single nucleotide variant	NM_033028.5(BBS4):c.-3A>G	Bardet-Biedl syndrome 4 [RCV002477700]\|not provided [RCV000730486]	uncertain significance	15	72686225	72686225	Human	1	name
10047596	CV190636	single nucleotide variant	NM_033028.5(BBS4):c.-17C>T	Bardet-Biedl syndrome 4 [RCV000371581]\|not provided [RCV004715750]\|not specified [RCV000173544]	benign\|likely benign	15	72686211	72686211	Human	1	name
11548420	CV255346	single nucleotide variant	NM_033028.4(BBS4):c.-38C>A	Bardet-Biedl syndrome 4 [RCV000335634]\|not provided [RCV004714614]\|not specified [RCV000249064]	benign\|likely benign	15	72686190	72686190	Human	1	name
11649057	CV339852	single nucleotide variant	NM_033028.5(BBS4):c.-44G>C	Bardet-Biedl syndrome 4 [RCV000285344]	uncertain significance	15	72686184	72686184	Human	1	name
11614989	CV339853	single nucleotide variant	NM_033028.5(BBS4):c.-14T>A	Bardet-Biedl syndrome 4 [RCV000281672]	uncertain significance	15	72686214	72686214	Human	1	name
11623670	CV339859	single nucleotide variant	NM_033028.5(BBS4):c.*36G>A	Bardet-Biedl syndrome 4 [RCV000375618]	uncertain significance	15	72737623	72737623	Human	1	name
11614913	CV339861	single nucleotide variant	NM_033028.5(BBS4):c.*43G>T	Bardet-Biedl syndrome 4 [RCV000281156]\|not provided [RCV003389799]	likely benign\|uncertain significance	15	72737630	72737630	Human	1	name
8601367	CV34583	single nucleotide variant	NM_033028.5(BBS4):c.-17C>A	Bardet-Biedl syndrome [RCV000020935]	benign	15	72686211	72686211	Human	1	name
28890674	CV874081	single nucleotide variant	NM_033028.5(BBS4):c.*65G>A	Bardet-Biedl syndrome 4 [RCV001120701]	uncertain significance	15	72737652	72737652	Human	1	name
126743085	CV1032124	single nucleotide variant	NM_033028.5(BBS4):c.24+6C>T	BBS4-related disorder [RCV003908538]\|Bardet-Biedl syndrome [RCV001351102]	likely benign\|uncertain significance	15	72686257	72686257	Human	2	name , trait , alternate_id
127252950	CV1056260	single nucleotide variant	NM_033028.5(BBS4):c.24+1G>T	Bardet-Biedl syndrome 4 [RCV002504633]\|Bardet-Biedl syndrome [RCV001378853]	likely pathogenic	15	72686252	72686252	Human	2	name
127243763	CV1081293	single nucleotide variant	NM_033028.5(BBS4):c.24+7G>A	BBS4-related disorder [RCV003963275]\|Bardet-Biedl syndrome [RCV001398459]	likely benign	15	72686258	72686258	Human	2	name , trait , alternate_id
151811599	CV1417488	single nucleotide variant	NM_033028.5(BBS4):c.24+1G>A	Bardet-Biedl syndrome 4 [RCV003464383]\|Bardet-Biedl syndrome [RCV002029022]	likely pathogenic	15	72686252	72686252	Human	2	name
152063001	CV1524609	single nucleotide variant	NM_033028.5(BBS4):c.76+7A>G	Bardet-Biedl syndrome [RCV002147010]	likely benign	15	72695235	72695235	Human	1	name
10049582	CV190635	single nucleotide variant	NM_033028.5(BBS4):c.24+8C>T	Bardet-Biedl syndrome 4 [RCV001094445]\|Bardet-Biedl syndrome [RCV000336731]\|not specified [RCV000173543]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	15	72686259	72686259	Human	2	name
156446779	CV1948133	single nucleotide variant	NM_033028.5(BBS4):c.77-4C>T	Bardet-Biedl syndrome [RCV003118295]	likely benign	15	72709696	72709696	Human	1	name
156092178	CV2106201	single nucleotide variant	NM_033028.5(BBS4):c.76+2T>C	Bardet-Biedl syndrome 4 [RCV005010799]\|Bardet-Biedl syndrome [RCV002952402]	pathogenic\|likely pathogenic	15	72695230	72695230	Human	2	name
243064896	CV2409456	deletion	NM_033028.5(BBS4):c.76+3del	Bardet-Biedl syndrome 4 [RCV003143746]	uncertain significance	15	72695231	72695231	Human	1	name
11550989	CV255348	single nucleotide variant	NM_033028.5(BBS4):c.77-6G>A	Bardet-Biedl syndrome 1 [RCV000709675]\|Bardet-Biedl syndrome 4 [RCV001094447]\|Bardet-Biedl syndrome [RCV000292222]\|not provided [RCV004714616]\|not specified [RCV000252464]	benign	15	72709694	72709694	Human	3	name
405053822	CV2884736	single nucleotide variant	NM_033028.5(BBS4):c.24+8C>A	Bardet-Biedl syndrome [RCV003522401]	likely benign	15	72686259	72686259	Human	1	name
405095350	CV3009264	single nucleotide variant	NM_033028.5(BBS4):c.24+2T>G	Bardet-Biedl syndrome [RCV003635251]	likely pathogenic	15	72686253	72686253	Human	1	name
405080851	CV3059891	single nucleotide variant	NM_033028.5(BBS4):c.24+9C>T	Bardet-Biedl syndrome [RCV003633984]	benign	15	72686260	72686260	Human	1	name
11606441	CV323328	single nucleotide variant	NM_033028.5(BBS4):c.*149C>A	Bardet-Biedl syndrome 4 [RCV000331599]	uncertain significance	15	72737736	72737736	Human	1	name
11610758	CV323337	single nucleotide variant	NM_033028.5(BBS4):c.*157C>G	Bardet-Biedl syndrome 4 [RCV000386130]	uncertain significance	15	72737744	72737744	Human	1	name
11663998	CV323339	single nucleotide variant	NM_033028.5(BBS4):c.*643A>C	Bardet-Biedl syndrome 4 [RCV000401387]	uncertain significance	15	72738230	72738230	Human	1	name
11611889	CV323346	single nucleotide variant	NM_033028.5(BBS4):c.*885T>C	Bardet-Biedl syndrome 4 [RCV000401007]	uncertain significance	15	72738472	72738472	Human	1	name
11621129	CV332991	single nucleotide variant	NM_033028.5(BBS4):c.*611C>T	Bardet-Biedl syndrome 4 [RCV000344998]\|not provided [RCV003391142]	likely benign\|uncertain significance	15	72738198	72738198	Human	1	name
11658005	CV332995	single nucleotide variant	NM_033028.5(BBS4):c.*883C>T	Bardet-Biedl syndrome 4 [RCV000345981]	uncertain significance	15	72738470	72738470	Human	1	name
11616433	CV341280	single nucleotide variant	NM_033028.5(BBS4):c.*608G>T	Bardet-Biedl syndrome 4 [RCV000294760]\|not provided [RCV004714991]	benign\|likely benign	15	72738195	72738195	Human	1	name
408382204	CV3504295	single nucleotide variant	NM_033028.5(BBS4):c.25-3C>T	BBS4-related disorder [RCV004729680]	uncertain significance	15	72695174	72695174	Human		name , trait , alternate_id
408377213	CV3507362	single nucleotide variant	NM_033028.5(BBS4):c.77-1G>T	BBS4-related disorder [RCV004750525]	likely pathogenic	15	72709699	72709699	Human		name , trait , alternate_id
597925776	CV3748821	single nucleotide variant	NM_033028.5(BBS4):c.76+1G>A	Bardet-Biedl syndrome [RCV005075277]	pathogenic	15	72695229	72695229	Human	1	name
597914484	CV3817537	single nucleotide variant	NM_033028.5(BBS4):c.77-4C>G	Bardet-Biedl syndrome [RCV005154739]	likely benign	15	72709696	72709696	Human	1	name
597937384	CV3862694	single nucleotide variant	NM_033028.5(BBS4):c.77-2A>G	Bardet-Biedl syndrome [RCV005207966]	likely pathogenic	15	72709698	72709698	Human	1	name
14349734	CV576239	single nucleotide variant	NM_033028.5(BBS4):c.76+1G>T	Bardet-Biedl syndrome 4 [RCV005004382]\|Bardet-Biedl syndrome [RCV000735932]	pathogenic\|likely pathogenic	15	72695229	72695229	Human	2	name
28890676	CV874082	single nucleotide variant	NM_033028.5(BBS4):c.*159A>G	Bardet-Biedl syndrome 4 [RCV001120702]	uncertain significance	15	72737746	72737746	Human	1	name
28890679	CV874083	single nucleotide variant	NM_033028.5(BBS4):c.*200C>T	Bardet-Biedl syndrome 4 [RCV001120703]	uncertain significance	15	72737787	72737787	Human	1	name
28890684	CV874084	single nucleotide variant	NM_033028.5(BBS4):c.*498T>C	Bardet-Biedl syndrome 4 [RCV001120704]	uncertain significance	15	72738085	72738085	Human	1	name
28890686	CV874085	single nucleotide variant	NM_033028.5(BBS4):c.*522A>G	Bardet-Biedl syndrome 4 [RCV001120705]	likely benign	15	72738109	72738109	Human	1	name
28875168	CV874086	single nucleotide variant	NM_033028.5(BBS4):c.*581T>A	Bardet-Biedl syndrome 4 [RCV001115779]	uncertain significance	15	72738168	72738168	Human	1	name
28875171	CV874087	single nucleotide variant	NM_033028.5(BBS4):c.*691G>A	Bardet-Biedl syndrome 4 [RCV001115780]	likely benign	15	72738278	72738278	Human	1	name
28875173	CV874088	single nucleotide variant	NM_033028.5(BBS4):c.*737T>C	Bardet-Biedl syndrome 4 [RCV001115781]	uncertain significance	15	72738324	72738324	Human	1	name
28875174	CV874089	single nucleotide variant	NM_033028.5(BBS4):c.*770C>T	Bardet-Biedl syndrome 4 [RCV001115782]	uncertain significance	15	72738357	72738357	Human	1	name
28875177	CV874090	single nucleotide variant	NM_033028.5(BBS4):c.*783A>G	Bardet-Biedl syndrome 4 [RCV001115783]	uncertain significance	15	72738370	72738370	Human	1	name
127263477	CV1081294	single nucleotide variant	NM_033028.5(BBS4):c.406-4C>T	Bardet-Biedl syndrome [RCV001403012]	likely benign	15	72722790	72722790	Human	1	name
127243388	CV1081296	single nucleotide variant	NM_033028.5(BBS4):c.587+7G>C	BBS4-related disorder [RCV004749678]\|Bardet-Biedl syndrome [RCV001398361]	likely benign	15	72724662	72724662	Human	2	name , trait , alternate_id
127269003	CV1081298	single nucleotide variant	NM_033028.5(BBS4):c.643-6T>C	Bardet-Biedl syndrome 4 [RCV002499861]\|Bardet-Biedl syndrome [RCV001404516]	likely benign	15	72729610	72729610	Human	2	name
127239124	CV1103111	single nucleotide variant	NM_033028.5(BBS4):c.588-9A>G	Bardet-Biedl syndrome [RCV001433911]\|not provided [RCV001580127]	likely benign	15	72727931	72727931	Human	1	name
127287023	CV1145399	single nucleotide variant	NM_033028.5(BBS4):c.24+18C>G	Bardet-Biedl syndrome 4 [RCV002495747]\|Bardet-Biedl syndrome [RCV001494676]	likely benign	15	72686269	72686269	Human	2	name
127332623	CV1145401	single nucleotide variant	NM_033028.5(BBS4):c.864+9C>T	Bardet-Biedl syndrome [RCV001489616]	likely benign	15	72731466	72731466	Human	1	name
150438721	CV1286933	single nucleotide variant	NM_033028.5(BBS4):c.864+1G>C	Bardet-Biedl syndrome 4 [RCV002227533]\|Retinitis pigmentosa [RCV001724848]	conflicting interpretations of pathogenicity\|uncertain significance	15	72731458	72731458	Human	3	name
151817695	CV1435987	single nucleotide variant	NM_033028.5(BBS4):c.333-3C>T	Bardet-Biedl syndrome [RCV001975419]	uncertain significance	15	72716775	72716775	Human	1	name
151863585	CV1445582	duplication	NM_033028.5(BBS4):c.76+18dup	Bardet-Biedl syndrome 4 [RCV002492356]\|Bardet-Biedl syndrome [RCV002018071]	likely benign	15	72695245	72695246	Human	2	name
151803095	CV1462524	duplication	NM_033028.5(BBS4):c.332+2dup	Bardet-Biedl syndrome [RCV002028283]	uncertain significance	15	72715403	72715404	Human	1	name
151729756	CV1505397	single nucleotide variant	NM_033028.5(BBS4):c.711+1G>A	Bardet-Biedl syndrome 4 [RCV005002778]\|Bardet-Biedl syndrome [RCV002021168]	likely pathogenic	15	72729685	72729685	Human	2	name
152051875	CV1538853	single nucleotide variant	NM_033028.5(BBS4):c.712-8G>A	Bardet-Biedl syndrome [RCV002189511]	likely benign	15	72731297	72731297	Human	1	name
152116145	CV1553360	single nucleotide variant	NM_033028.5(BBS4):c.865-5C>G	Bardet-Biedl syndrome [RCV002080918]	likely benign	15	72731550	72731550	Human	1	name
152100841	CV1578788	single nucleotide variant	NM_033028.5(BBS4):c.25-18C>T	Bardet-Biedl syndrome [RCV002078970]	likely benign	15	72695159	72695159	Human	1	name
152067585	CV1620805	single nucleotide variant	NM_033028.5(BBS4):c.77-17C>T	Bardet-Biedl syndrome [RCV002191363]	likely benign	15	72709683	72709683	Human	1	name
152104067	CV1625704	single nucleotide variant	NM_033028.5(BBS4):c.332+8T>C	Bardet-Biedl syndrome 1 [RCV003229082]\|Bardet-Biedl syndrome [RCV002152160]	pathogenic\|likely benign	15	72715410	72715410	Human	2	name
152040607	CV1644167	single nucleotide variant	NM_033028.5(BBS4):c.24+16C>G	Bardet-Biedl syndrome [RCV002126036]	likely benign	15	72686267	72686267	Human	1	name
9688588	CV177512	single nucleotide variant	NM_033028.5(BBS4):c.76+19G>T	Bardet-Biedl syndrome 1 [RCV000613001]\|Bardet-Biedl syndrome 4 [RCV001553956]\|Bardet-Biedl syndrome [RCV001520119]\|not provided [RCV001657865]\|not specified [RCV000152838]	benign	15	72695247	72695247	Human	3	name
156195112	CV1889530	single nucleotide variant	NM_033028.5(BBS4):c.156+4A>G	BBS4-related disorder [RCV003898766]\|Bardet-Biedl syndrome 4 [RCV005010974]\|Bardet-Biedl syndrome [RCV003084006]	likely benign\|uncertain significance	15	72709783	72709783	Human	2	name , trait , alternate_id
156351464	CV1926691	single nucleotide variant	NM_033028.5(BBS4):c.642+1G>A	Bardet-Biedl syndrome 4 [RCV004572803]\|Bardet-Biedl syndrome [RCV002650921]	likely pathogenic	15	72727995	72727995	Human	2	name
156306695	CV1930380	single nucleotide variant	NM_033028.5(BBS4):c.220+1G>A	BBS4-related disorder [RCV004750302]\|Bardet-Biedl syndrome 4 [RCV003459767]\|Bardet-Biedl syndrome [RCV002629533]	pathogenic\|likely pathogenic	15	72712308	72712308	Human	2	name , trait , alternate_id
156311868	CV1934421	single nucleotide variant	NM_033028.5(BBS4):c.220+3A>G	Bardet-Biedl syndrome 4 [RCV005002977]\|Bardet-Biedl syndrome [RCV002629821]	uncertain significance	15	72712310	72712310	Human	2	name
156333911	CV2000823	single nucleotide variant	NM_033028.5(BBS4):c.333-2A>C	BBS4-related disorder [RCV004749936]\|Bardet-Biedl syndrome 4 [RCV003464579]\|Bardet-Biedl syndrome [RCV002649972]	pathogenic\|likely pathogenic	15	72716776	72716776	Human	2	name , trait , alternate_id
156280167	CV2042772	single nucleotide variant	NM_033028.5(BBS4):c.865-3T>C	BBS4-related disorder [RCV003984277]\|Bardet-Biedl syndrome [RCV002770355]	likely benign\|uncertain significance	15	72731552	72731552	Human	2	name , trait , alternate_id
156338845	CV2092379	single nucleotide variant	NM_033028.5(BBS4):c.157-9C>T	Bardet-Biedl syndrome [RCV002900360]	likely benign	15	72712235	72712235	Human	1	name
11039889	CV214078	single nucleotide variant	NM_033028.5(BBS4):c.406-2A>G	Bardet-Biedl syndrome 4 [RCV000207846]	pathogenic	15	72722792	72722792	Human	1	name
156023789	CV2141500	single nucleotide variant	NM_033028.5(BBS4):c.157-4T>C	Bardet-Biedl syndrome [RCV002976283]	likely benign	15	72712240	72712240	Human	1	name
156261576	CV2143300	single nucleotide variant	NM_033028.5(BBS4):c.76+10C>T	Bardet-Biedl syndrome [RCV003008943]	likely benign	15	72695238	72695238	Human	1	name
156192874	CV2171335	single nucleotide variant	NM_033028.5(BBS4):c.642+1G>T	BBS4-related disorder [RCV004725468]\|Bardet-Biedl syndrome [RCV003024192]	likely pathogenic	15	72727995	72727995	Human	2	name , trait , alternate_id
11345570	CV238076	single nucleotide variant	NM_033028.5(BBS4):c.712-1G>A	BBS4-related disorder [RCV003937879]\|Bardet-Biedl syndrome 4 [RCV000778446]\|Bardet-Biedl syndrome [RCV000638346]\|Retinal dystrophy [RCV000225493]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	15	72731304	72731304	Human	4	name , trait , alternate_id
8554917	CV24186	single nucleotide variant	NM_033028.5(BBS4):c.157-2A>G	Bardet-Biedl syndrome 4 [RCV000009718]\|Bardet-Biedl syndrome [RCV000020932]	pathogenic	15	72712242	72712242	Human	2	name
401946410	CV2833765	single nucleotide variant	NM_033028.5(BBS4):c.642+2T>G	Bardet-Biedl syndrome 4 [RCV003465075]\|Bardet-Biedl syndrome [RCV003485951]	pathogenic\|likely pathogenic	15	72727996	72727996	Human	2	name
401946439	CV2833776	single nucleotide variant	NM_033028.5(BBS4):c.864+1G>A	Bardet-Biedl syndrome 4 [RCV003465086]\|Bardet-Biedl syndrome [RCV003633723]	likely pathogenic	15	72731458	72731458	Human	2	name
405062808	CV2863472	single nucleotide variant	NM_033028.5(BBS4):c.332+1G>T	Bardet-Biedl syndrome [RCV003523212]	likely pathogenic	15	72715403	72715403	Human	1	name
405053009	CV2884059	single nucleotide variant	NM_033028.5(BBS4):c.24+16C>T	Bardet-Biedl syndrome [RCV003522308]	likely benign	15	72686267	72686267	Human	1	name
405056176	CV2885726	single nucleotide variant	NM_033028.5(BBS4):c.24+17T>C	Bardet-Biedl syndrome [RCV003522560]	likely benign	15	72686268	72686268	Human	1	name
405060936	CV2924180	single nucleotide variant	NM_033028.5(BBS4):c.711+8A>T	Bardet-Biedl syndrome [RCV003522869]	likely benign	15	72729692	72729692	Human	1	name
405080093	CV2953605	single nucleotide variant	NM_033028.5(BBS4):c.459+1G>A	Bardet-Biedl syndrome [RCV003633920]	pathogenic	15	72722848	72722848	Human	1	name
405080117	CV2953751	single nucleotide variant	NM_033028.5(BBS4):c.76+17A>G	Bardet-Biedl syndrome [RCV003633922]	likely benign	15	72695245	72695245	Human	1	name
405086690	CV2959733	single nucleotide variant	NM_033028.5(BBS4):c.157-9C>G	Bardet-Biedl syndrome [RCV003634497]	likely benign	15	72712235	72712235	Human	1	name
405087848	CV2971086	single nucleotide variant	NM_033028.5(BBS4):c.588-4G>T	Bardet-Biedl syndrome [RCV003634568]	likely benign	15	72727936	72727936	Human	1	name
405092928	CV2991305	single nucleotide variant	NM_033028.5(BBS4):c.157-6T>C	Bardet-Biedl syndrome [RCV003634953]	likely benign	15	72712238	72712238	Human	1	name
405092772	CV2995649	single nucleotide variant	NM_033028.5(BBS4):c.76+19G>C	Bardet-Biedl syndrome [RCV003635001]	likely benign	15	72695247	72695247	Human	1	name
405093050	CV2995920	single nucleotide variant	NM_033028.5(BBS4):c.865-5C>T	Bardet-Biedl syndrome [RCV003635029]	likely benign	15	72731550	72731550	Human	1	name
405094076	CV3000928	single nucleotide variant	NM_033028.5(BBS4):c.157-1G>T	Bardet-Biedl syndrome [RCV003635128]	pathogenic	15	72712243	72712243	Human	1	name
405135909	CV3017092	single nucleotide variant	NM_033028.5(BBS4):c.24+11A>T	Bardet-Biedl syndrome [RCV003635335]	likely benign	15	72686262	72686262	Human	1	name
404995433	CV3129220	single nucleotide variant	NM_033028.5(BBS4):c.333-9C>A	Bardet-Biedl syndrome [RCV003827609]	likely benign	15	72716769	72716769	Human	1	name
404987349	CV3135544	single nucleotide variant	NM_033028.5(BBS4):c.25-16A>G	Bardet-Biedl syndrome [RCV003826839]	likely benign	15	72695161	72695161	Human	1	name
405234760	CV3168436	single nucleotide variant	NM_033028.5(BBS4):c.24+18C>T	Bardet-Biedl syndrome [RCV003865910]	likely benign	15	72686269	72686269	Human	1	name
402466675	CV3177692	single nucleotide variant	NM_033028.5(BBS4):c.864+7G>A	Bardet-Biedl syndrome [RCV003873130]	likely benign	15	72731464	72731464	Human	1	name
405253051	CV3178182	single nucleotide variant	NM_033028.5(BBS4):c.76+16C>T	Bardet-Biedl syndrome [RCV003870963]	likely benign	15	72695244	72695244	Human	1	name
405264170	CV3189943	single nucleotide variant	NM_033028.5(BBS4):c.865-9C>G	BBS4-related disorder [RCV003896988]	likely benign	15	72731546	72731546	Human		name , trait , alternate_id
405870386	CV3399877	single nucleotide variant	NM_033028.5(BBS4):c.460-2A>T	Bardet-Biedl syndrome 4 [RCV004574025]	likely pathogenic	15	72724526	72724526	Human	1	name
11663760	CV341275	single nucleotide variant	NM_033028.5(BBS4):c.587+1G>A	Bardet-Biedl syndrome 4 [RCV000398951]	uncertain significance	15	72724656	72724656	Human		name
8601365	CV34581	single nucleotide variant	NM_033028.5(BBS4):c.220+1G>C	Bardet-Biedl syndrome [RCV000020933]	pathogenic	15	72712308	72712308	Human	1	name
8601366	CV34582	single nucleotide variant	NM_033028.5(BBS4):c.406-2A>C	Bardet-Biedl syndrome 4 [RCV005222697]\|Bardet-Biedl syndrome [RCV000020934]	pathogenic	15	72722792	72722792	Human	2	name
408375715	CV3506531	single nucleotide variant	NM_033028.5(BBS4):c.405+4A>G	BBS4-related disorder [RCV004726354]	likely benign	15	72716854	72716854	Human		name , trait , alternate_id
408375522	CV3509989	single nucleotide variant	NM_033028.5(BBS4):c.156+3A>G	BBS4-related disorder [RCV004748156]	likely benign	15	72709782	72709782	Human		name , trait , alternate_id
408376621	CV3515291	single nucleotide variant	NM_033028.5(BBS4):c.459+7T>G	BBS4-related disorder [RCV004749338]	likely benign	15	72722854	72722854	Human		name , trait , alternate_id
408376701	CV3515975	single nucleotide variant	NM_033028.5(BBS4):c.156+5G>C	BBS4-related disorder [RCV004749418]	likely benign	15	72709784	72709784	Human		name , trait , alternate_id
617153894	CV3703416	single nucleotide variant	NM_033028.5(BBS4):c.642+4A>G	Bardet-Biedl syndrome [RCV005419811]	uncertain significance	15	72727998	72727998	Human	1	name
597730473	CV3704234	single nucleotide variant	NM_033028.5(BBS4):c.24+12G>A	Bardet-Biedl syndrome 4 [RCV005011892]	uncertain significance	15	72686263	72686263	Human	1	name
597730484	CV3704236	single nucleotide variant	NM_033028.5(BBS4):c.156+1G>A	Bardet-Biedl syndrome 4 [RCV005011893]	likely pathogenic	15	72709780	72709780	Human	1	name
597632342	CV3704253	single nucleotide variant	NM_033028.5(BBS4):c.864+2T>C	Bardet-Biedl syndrome 4 [RCV005003160]	likely pathogenic	15	72731459	72731459	Human	1	name
597952266	CV3765602	single nucleotide variant	NM_033028.5(BBS4):c.588-7G>A	Bardet-Biedl syndrome [RCV005121246]	likely benign	15	72727933	72727933	Human	1	name
597931547	CV3789486	single nucleotide variant	NM_033028.5(BBS4):c.643-9T>G	Bardet-Biedl syndrome [RCV005131767]	likely benign	15	72729607	72729607	Human	1	name
597891062	CV3856520	single nucleotide variant	NM_033028.5(BBS4):c.25-12A>G	Bardet-Biedl syndrome [RCV005200585]	likely benign	15	72695165	72695165	Human	1	name
597878705	CV3860447	single nucleotide variant	NM_033028.5(BBS4):c.711+9G>A	Bardet-Biedl syndrome [RCV005198656]	likely benign	15	72729693	72729693	Human	1	name
14349731	CV576240	single nucleotide variant	NM_033028.5(BBS4):c.157-3C>G	Bardet-Biedl syndrome [RCV000735930]\|not provided [RCV001092610]	pathogenic	15	72712241	72712241	Human	1	name
15126092	CV685409	single nucleotide variant	NM_033028.5(BBS4):c.156+9T>C	Bardet-Biedl syndrome [RCV003633549]	likely benign	15	72709788	72709788	Human	1	name
15162221	CV690116	single nucleotide variant	NM_033028.5(BBS4):c.405+7A>G	Bardet-Biedl syndrome 4 [RCV001115697]\|Bardet-Biedl syndrome [RCV001455030]	likely benign\|uncertain significance	15	72716857	72716857	Human	2	name
26886450	CV852778	single nucleotide variant	NM_033028.5(BBS4):c.405+6T>C	Bardet-Biedl syndrome 4 [RCV002489582]\|Bardet-Biedl syndrome [RCV001044226]	uncertain significance	15	72716856	72716856	Human	2	name
26910556	CV857275	single nucleotide variant	NM_033028.5(BBS4):c.332+5G>A	Bardet-Biedl syndrome [RCV001862844]\|Retinal dystrophy [RCV001075125]	uncertain significance	15	72715407	72715407	Human	3	name
26910248	CV857276	single nucleotide variant	NM_033028.5(BBS4):c.642+3A>G	Retinal dystrophy [RCV001074638]	likely pathogenic	15	72727997	72727997	Human	2	name
28890433	CV876565	single nucleotide variant	NM_033028.5(BBS4):c.220+3A>T	Bardet-Biedl syndrome 4 [RCV001120612]\|Bardet-Biedl syndrome [RCV001882393]	uncertain significance	15	72712310	72712310	Human	2	name
38494186	CV960825	single nucleotide variant	NM_033028.5(BBS4):c.333-1G>C	Bardet-Biedl syndrome [RCV001240918]	likely pathogenic	15	72716777	72716777	Human	1	name
126767593	CV1032126	single nucleotide variant	NM_033028.5(BBS4):c.1036+6A>G	BBS4-related disorder [RCV003908530]\|Bardet-Biedl syndrome [RCV001342885]\|not specified [RCV005236817]	likely benign\|uncertain significance	15	72731732	72731732	Human	2	name , trait , alternate_id
127255893	CV1056261	single nucleotide variant	NM_033028.5(BBS4):c.1036+1G>A	Bardet-Biedl syndrome [RCV001379459]	likely pathogenic	15	72731727	72731727	Human	1	name
127260533	CV1063421	single nucleotide variant	NM_033028.5(BBS4):c.1248+2T>C	BBS4-related disorder [RCV004749673]\|Bardet-Biedl syndrome 4 [RCV003462965]\|Bardet-Biedl syndrome [RCV001380348]	pathogenic\|likely pathogenic	15	72735968	72735968	Human	2	name , trait , alternate_id
127299324	CV1124553	single nucleotide variant	NM_033028.5(BBS4):c.157-19A>G	Bardet-Biedl syndrome 4 [RCV002495665]\|Bardet-Biedl syndrome [RCV001460765]\|not provided [RCV001579811]	likely benign	15	72712225	72712225	Human	2	name
127318332	CV1157527	duplication	NM_033028.5(BBS4):c.332+27dup	Bardet-Biedl syndrome [RCV001521582]\|not provided [RCV002225844]	benign\|likely benign	15	72715428	72715429	Human	1	name
127296515	CV1157528	single nucleotide variant	NM_033028.5(BBS4):c.459+14G>C	Bardet-Biedl syndrome [RCV001512540]	benign	15	72722861	72722861	Human	1	name
127305447	CV1157529	single nucleotide variant	NM_033028.5(BBS4):c.460-20T>C	Bardet-Biedl syndrome 4 [RCV002488328]\|Bardet-Biedl syndrome [RCV001516280]	benign\|likely benign	15	72724508	72724508	Human	2	name
127304833	CV1157530	duplication	NM_033028.5(BBS4):c.864+12dup	Bardet-Biedl syndrome [RCV001516059]	benign	15	72731465	72731466	Human	1	name
151801150	CV1354162	duplication	NM_033028.5(BBS4):c.1249-8dup	Bardet-Biedl syndrome [RCV001867138]	likely benign\|uncertain significance	15	72736752	72736753	Human	1	name
151800263	CV1417620	single nucleotide variant	NM_033028.5(BBS4):c.157-20C>T	Bardet-Biedl syndrome [RCV002047916]	likely benign\|uncertain significance	15	72712224	72712224	Human	1	name
152114325	CV1534533	single nucleotide variant	NM_033028.5(BBS4):c.333-18A>G	Bardet-Biedl syndrome [RCV002097265]	likely benign	15	72716760	72716760	Human	1	name
152070318	CV1535289	deletion	NM_033028.5(BBS4):c.642+11del	Bardet-Biedl syndrome [RCV002111359]	likely benign	15	72728005	72728005	Human	1	name
152170049	CV1538835	single nucleotide variant	NM_033028.5(BBS4):c.865-13T>C	Bardet-Biedl syndrome [RCV002183015]	likely benign	15	72731542	72731542	Human	1	name
152064840	CV1539638	single nucleotide variant	NM_033028.5(BBS4):c.864+20C>G	Bardet-Biedl syndrome [RCV002147268]	likely benign	15	72731477	72731477	Human	1	name
152033379	CV1542673	single nucleotide variant	NM_033028.5(BBS4):c.712-15G>C	Bardet-Biedl syndrome 4 [RCV002500169]\|Bardet-Biedl syndrome [RCV002106559]	likely benign	15	72731290	72731290	Human	2	name
152043747	CV1552067	single nucleotide variant	NM_033028.5(BBS4):c.588-13C>T	Bardet-Biedl syndrome [RCV002166030]	likely benign	15	72727927	72727927	Human	1	name
152077831	CV1560994	single nucleotide variant	NM_033028.5(BBS4):c.712-14T>A	Bardet-Biedl syndrome 4 [RCV002499925]\|Bardet-Biedl syndrome [RCV002112347]	likely benign	15	72731291	72731291	Human	2	name
152152030	CV1564985	single nucleotide variant	NM_033028.5(BBS4):c.332+14A>T	Bardet-Biedl syndrome [RCV002102373]	likely benign	15	72715416	72715416	Human	1	name
152076354	CV1565476	single nucleotide variant	NM_033028.5(BBS4):c.587+17C>A	Bardet-Biedl syndrome [RCV002148745]	likely benign	15	72724672	72724672	Human	1	name
152136725	CV1625365	single nucleotide variant	NM_033028.5(BBS4):c.588-17G>T	Bardet-Biedl syndrome [RCV002137636]	likely benign	15	72727923	72727923	Human	1	name
152064423	CV1645010	single nucleotide variant	NM_033028.5(BBS4):c.864+20C>T	Bardet-Biedl syndrome [RCV002147210]	likely benign	15	72731477	72731477	Human	1	name
152073462	CV1657514	single nucleotide variant	NM_033028.5(BBS4):c.587+12T>C	Bardet-Biedl syndrome [RCV002210283]	likely benign	15	72724667	72724667	Human	1	name
152152109	CV1664425	single nucleotide variant	NM_033028.5(BBS4):c.157-20C>G	Bardet-Biedl syndrome [RCV002158348]	likely benign	15	72712224	72712224	Human	1	name
155796732	CV1860864	single nucleotide variant	NM_033028.5(BBS4):c.460-15T>A	Bardet-Biedl syndrome 4 [RCV002468464]	uncertain significance	15	72724513	72724513	Human	1	name
155943212	CV1878752	deletion	NM_033028.5(BBS4):c.864+12del	Bardet-Biedl syndrome [RCV003073681]	benign	15	72731466	72731466	Human	1	name
156138902	CV2032838	deletion	NM_033028.5(BBS4):c.711+13del	Bardet-Biedl syndrome [RCV002740826]	likely benign	15	72729697	72729697	Human	1	name
155933054	CV2035187	single nucleotide variant	NM_033028.5(BBS4):c.1450+7C>T	Bardet-Biedl syndrome [RCV002751268]	likely benign	15	72736970	72736970	Human	1	name
156209284	CV2036760	single nucleotide variant	NM_033028.5(BBS4):c.642+14T>A	Bardet-Biedl syndrome [RCV002790178]	likely benign	15	72728008	72728008	Human	1	name
155902853	CV2043724	single nucleotide variant	NM_033028.5(BBS4):c.588-16C>T	Bardet-Biedl syndrome [RCV002771084]	likely benign	15	72727924	72727924	Human	1	name
155940198	CV2071569	single nucleotide variant	NM_033028.5(BBS4):c.1248+1G>A	Bardet-Biedl syndrome 4 [RCV003464613]\|Bardet-Biedl syndrome [RCV002861723]	pathogenic\|likely pathogenic	15	72735967	72735967	Human	2	name
156023645	CV2077867	deletion	NM_033028.5(BBS4):c.406-11del	Bardet-Biedl syndrome [RCV002866727]	benign	15	72722778	72722778	Human	1	name
156103095	CV2107859	single nucleotide variant	NM_033028.5(BBS4):c.1107-9C>G	Bardet-Biedl syndrome [RCV002927123]	likely benign	15	72735816	72735816	Human	1	name
155953600	CV2123680	single nucleotide variant	NM_033028.5(BBS4):c.712-10A>G	Bardet-Biedl syndrome [RCV002971999]	likely benign	15	72731295	72731295	Human	1	name
10408809	CV213139	single nucleotide variant	NM_033028.5(BBS4):c.864+10C>T	BBS4-related disorder [RCV003917812]\|Bardet-Biedl syndrome [RCV002057036]	likely benign	15	72731467	72731467	Human	2	name , trait , alternate_id
156094033	CV2139377	single nucleotide variant	NM_033028.5(BBS4):c.333-13A>G	Bardet-Biedl syndrome [RCV002979720]	likely benign\|uncertain significance	15	72716765	72716765	Human	1	name
156044050	CV2143609	single nucleotide variant	NM_033028.5(BBS4):c.220+10A>G	Bardet-Biedl syndrome [RCV002999642]	likely benign	15	72712317	72712317	Human	1	name
155919665	CV2148811	single nucleotide variant	NM_033028.5(BBS4):c.157-13C>T	Bardet-Biedl syndrome [RCV002991837]	likely benign	15	72712231	72712231	Human	1	name
155975929	CV2149090	single nucleotide variant	NM_033028.5(BBS4):c.156+12C>T	Bardet-Biedl syndrome [RCV003016154]	likely benign	15	72709791	72709791	Human	1	name
243062694	CV2406772	single nucleotide variant	NM_033028.5(BBS4):c.1037-1G>A	Bardet-Biedl syndrome 4 [RCV003140698]	likely pathogenic	15	72735112	72735112	Human	1	name
8598177	CV24185	deletion	NM_033028.5(BBS4):c.77-216del	Bardet-Biedl syndrome 4 [RCV000009717]\|Bardet-Biedl syndrome [RCV000020945]	pathogenic	15	72709480	72709480	Human	2	name
11543705	CV255349	single nucleotide variant	NM_033028.5(BBS4):c.405+17C>T	Bardet-Biedl syndrome [RCV001510732]\|not provided [RCV004714615]\|not specified [RCV000242817]	benign	15	72716867	72716867	Human	1	name
11551218	CV255351	single nucleotide variant	NM_033028.5(BBS4):c.712-17C>G	Bardet-Biedl syndrome 4 [RCV002500927]\|Bardet-Biedl syndrome [RCV001514546]\|not provided [RCV004703558]\|not specified [RCV000252754]	benign\|likely benign	15	72731288	72731288	Human	2	name
11544784	CV255353	single nucleotide variant	NM_033028.5(BBS4):c.865-22G>C	not specified [RCV000244250]	likely benign	15	72731533	72731533	Human		name
11549471	CV255354	single nucleotide variant	NM_033028.5(BBS4):c.1106+3A>G	not provided [RCV001753731]\|not specified [RCV000250469]	likely benign\|uncertain significance	15	72735185	72735185	Human		name
11633514	CV264628	single nucleotide variant	NM_033028.5(BBS4):c.1106+2T>A	Bardet-Biedl syndrome [RCV000787534]\|not provided [RCV000344104]	pathogenic\|likely pathogenic	15	72735184	72735184	Human	1	name
401946395	CV2833759	single nucleotide variant	NM_033028.5(BBS4):c.1450+2T>C	Bardet-Biedl syndrome 4 [RCV003465069]	likely pathogenic\|conflicting interpretations of pathogenicity	15	72736965	72736965	Human	1	name
401946415	CV2833767	single nucleotide variant	NM_033028.5(BBS4):c.1106+2T>C	Bardet-Biedl syndrome 4 [RCV003465077]	likely pathogenic	15	72735184	72735184	Human	1	name
401946424	CV2833770	duplication	NM_033028.5(BBS4):c.1248+2dup	Bardet-Biedl syndrome 4 [RCV003465080]	likely pathogenic	15	72735967	72735968	Human	1	name
401946458	CV2833783	single nucleotide variant	NM_033028.5(BBS4):c.1037-2A>G	Bardet-Biedl syndrome 4 [RCV003465093]	likely pathogenic	15	72735111	72735111	Human	1	name
401946461	CV2833784	single nucleotide variant	NM_033028.5(BBS4):c.1106+1G>A	Bardet-Biedl syndrome 4 [RCV003465094]	likely pathogenic	15	72735183	72735183	Human	1	name
405073575	CV2855740	single nucleotide variant	NM_033028.5(BBS4):c.1451-4C>T	BBS4-related disorder [RCV004750382]\|Bardet-Biedl syndrome [RCV003524000]	likely benign	15	72737474	72737474	Human	2	name , trait , alternate_id
405064598	CV2857320	single nucleotide variant	NM_033028.5(BBS4):c.333-15A>C	Bardet-Biedl syndrome [RCV003523235]	likely benign	15	72716763	72716763	Human	1	name
405063327	CV2857492	single nucleotide variant	NM_033028.5(BBS4):c.643-11T>C	Bardet-Biedl syndrome [RCV003523285]	likely benign	15	72729605	72729605	Human	1	name
405063128	CV2860532	single nucleotide variant	NM_033028.5(BBS4):c.157-12T>G	Bardet-Biedl syndrome [RCV003523267]	likely benign	15	72712232	72712232	Human	1	name
405062977	CV2864054	single nucleotide variant	NM_033028.5(BBS4):c.157-15T>G	Bardet-Biedl syndrome [RCV003523253]	likely benign	15	72712229	72712229	Human	1	name
405072787	CV2865521	single nucleotide variant	NM_033028.5(BBS4):c.588-14T>C	Bardet-Biedl syndrome [RCV003523909]	likely benign	15	72727926	72727926	Human	1	name
405076945	CV2867655	single nucleotide variant	NM_033028.5(BBS4):c.1036+8A>G	Bardet-Biedl syndrome [RCV003524227]	likely benign	15	72731734	72731734	Human	1	name
405051986	CV2873307	single nucleotide variant	NM_033028.5(BBS4):c.1450+9A>G	Bardet-Biedl syndrome [RCV003522221]	likely benign	15	72736972	72736972	Human	1	name
405077152	CV2874907	single nucleotide variant	NM_033028.5(BBS4):c.642+12T>C	Bardet-Biedl syndrome [RCV003524242]	likely benign	15	72728006	72728006	Human	1	name
405050690	CV2879713	single nucleotide variant	NM_033028.5(BBS4):c.1106+7A>C	Bardet-Biedl syndrome [RCV003522136]	likely benign	15	72735189	72735189	Human	1	name
405070246	CV2897647	single nucleotide variant	NM_033028.5(BBS4):c.1451-7T>A	Bardet-Biedl syndrome [RCV003523769]	likely benign	15	72737471	72737471	Human	1	name
405064654	CV2899151	single nucleotide variant	NM_033028.5(BBS4):c.333-12T>C	Bardet-Biedl syndrome [RCV003523395]	likely benign	15	72716766	72716766	Human	1	name
405060850	CV2924425	single nucleotide variant	NM_033028.5(BBS4):c.642+11C>T	Bardet-Biedl syndrome [RCV003522876]	likely benign	15	72728005	72728005	Human	1	name
405079047	CV2937987	single nucleotide variant	NM_033028.5(BBS4):c.865-16C>G	Bardet-Biedl syndrome [RCV003633820]	likely benign	15	72731539	72731539	Human	1	name
405086873	CV2963130	single nucleotide variant	NM_033028.5(BBS4):c.156+10T>G	Bardet-Biedl syndrome [RCV003634513]	likely benign	15	72709789	72709789	Human	1	name
405088500	CV2968590	single nucleotide variant	NM_033028.5(BBS4):c.333-10T>C	Bardet-Biedl syndrome [RCV003634624]	likely benign	15	72716768	72716768	Human	1	name
405089191	CV2976754	single nucleotide variant	NM_033028.5(BBS4):c.333-20G>C	Bardet-Biedl syndrome [RCV003634706]	likely benign	15	72716758	72716758	Human	1	name
405089893	CV2977319	single nucleotide variant	NM_033028.5(BBS4):c.221-20T>C	Bardet-Biedl syndrome [RCV003634737]	likely benign	15	72715271	72715271	Human	1	name
405091623	CV2986686	single nucleotide variant	NM_033028.5(BBS4):c.406-16T>C	Bardet-Biedl syndrome [RCV003634877]	likely benign	15	72722778	72722778	Human	1	name
405094384	CV3004218	single nucleotide variant	NM_033028.5(BBS4):c.1106+7A>G	Bardet-Biedl syndrome [RCV003635153]	likely benign	15	72735189	72735189	Human	1	name
405095266	CV3012696	single nucleotide variant	NM_033028.5(BBS4):c.643-19T>C	Bardet-Biedl syndrome [RCV003635241]	likely benign	15	72729597	72729597	Human	1	name
405136018	CV3013784	single nucleotide variant	NM_033028.5(BBS4):c.459+15T>A	Bardet-Biedl syndrome [RCV003635345]	likely benign	15	72722862	72722862	Human	1	name
405135975	CV3017181	single nucleotide variant	NM_033028.5(BBS4):c.459+13A>G	Bardet-Biedl syndrome [RCV003635341]	likely benign	15	72722860	72722860	Human	1	name
405068977	CV3025237	single nucleotide variant	NM_033028.5(BBS4):c.221-14C>T	Bardet-Biedl syndrome [RCV003632986]	likely benign	15	72715277	72715277	Human	1	name
405071611	CV3040188	single nucleotide variant	NM_033028.5(BBS4):c.1249-5A>C	Bardet-Biedl syndrome [RCV003633180]	likely benign	15	72736757	72736757	Human	1	name
405071657	CV3040476	deletion	NM_033028.5(BBS4):c.332+16del	Bardet-Biedl syndrome [RCV003633183]	likely benign	15	72715417	72715417	Human	1	name
405080998	CV3067248	single nucleotide variant	NM_033028.5(BBS4):c.587+16T>A	Bardet-Biedl syndrome [RCV003633999]	likely benign	15	72724671	72724671	Human	1	name
402521470	CV3126929	single nucleotide variant	NM_033028.5(BBS4):c.156+14A>G	Bardet-Biedl syndrome [RCV003824847]	likely benign	15	72709793	72709793	Human	1	name
405232242	CV3157546	single nucleotide variant	NM_033028.5(BBS4):c.460-15T>C	Bardet-Biedl syndrome [RCV003865496]	likely benign	15	72724513	72724513	Human	1	name
405226873	CV3169495	single nucleotide variant	NM_033028.5(BBS4):c.712-13G>A	Bardet-Biedl syndrome [RCV003864519]	likely benign	15	72731292	72731292	Human	1	name
405213770	CV3169916	single nucleotide variant	NM_033028.5(BBS4):c.642+20C>T	Bardet-Biedl syndrome [RCV003862520]	likely benign	15	72728014	72728014	Human	1	name
405262418	CV3194414	single nucleotide variant	NM_033028.5(BBS4):c.1451-8G>A	BBS4-related disorder [RCV003896443]	likely benign	15	72737470	72737470	Human		name , trait , alternate_id
11611268	CV323320	single nucleotide variant	NM_033028.5(BBS4):c.1107-7G>A	Bardet-Biedl syndrome 4 [RCV000392838]\|Bardet-Biedl syndrome [RCV001437125]\|not provided [RCV000415761]	likely benign\|uncertain significance	15	72735818	72735818	Human	2	name
405870382	CV3399875	single nucleotide variant	NM_033028.5(BBS4):c.1249-2A>C	BBS4-related disorder [RCV004750477]\|Bardet-Biedl syndrome 4 [RCV004574023]	likely pathogenic	15	72736760	72736760	Human	1	name , trait , alternate_id
11659689	CV341279	duplication	NM_033028.5(BBS4):c.1451-6dup	Bardet-Biedl syndrome [RCV000360502]	conflicting interpretations of pathogenicity\|uncertain significance	15	72737470	72737471	Human	1	name
408378119	CV3505008	single nucleotide variant	NM_033028.5(BBS4):c.1450+1G>A	BBS4-related disorder [RCV004727811]	likely pathogenic	15	72736964	72736964	Human		name , trait , alternate_id
408376117	CV3505557	single nucleotide variant	NM_033028.5(BBS4):c.1106+8C>G	BBS4-related disorder [RCV004726561]	likely benign	15	72735190	72735190	Human		name , trait , alternate_id
408375409	CV3508988	single nucleotide variant	NM_033028.5(BBS4):c.1037-4G>A	BBS4-related disorder [RCV004748036]	uncertain significance	15	72735109	72735109	Human		name , trait , alternate_id
408376391	CV3513592	single nucleotide variant	NM_033028.5(BBS4):c.1450+5G>A	BBS4-related disorder [RCV004749106]	likely benign	15	72736968	72736968	Human		name , trait , alternate_id
597873546	CV3768916	single nucleotide variant	NM_033028.5(BBS4):c.220+18T>A	Bardet-Biedl syndrome [RCV005123086]	likely benign	15	72712325	72712325	Human	1	name
597932525	CV3812745	single nucleotide variant	NM_033028.5(BBS4):c.864+17G>C	Bardet-Biedl syndrome [RCV005157277]	likely benign	15	72731474	72731474	Human	1	name
597962995	CV3841096	single nucleotide variant	NM_033028.5(BBS4):c.220+19G>A	Bardet-Biedl syndrome [RCV005193389]	likely benign	15	72712326	72712326	Human	1	name
13472704	CV465137	single nucleotide variant	NM_033028.5(BBS4):c.405+10G>C	Bardet-Biedl syndrome [RCV000525031]	likely benign	15	72716860	72716860	Human	1	name
26886164	CV852779	single nucleotide variant	NM_033028.5(BBS4):c.1248+1G>T	Bardet-Biedl syndrome 4 [RCV001784591]\|Bardet-Biedl syndrome [RCV001044016]	pathogenic\|likely pathogenic	15	72735967	72735967	Human	2	name
38499641	CV960826	single nucleotide variant	NM_033028.5(BBS4):c.1248+4T>C	Bardet-Biedl syndrome [RCV001244903]	uncertain significance	15	72735970	72735970	Human	1	name
126764738	CV996382	single nucleotide variant	NM_033028.5(BBS4):c.1248+5G>A	BBS4-related disorder [RCV004749646]\|Bardet-Biedl syndrome 4 [RCV005012741]\|Bardet-Biedl syndrome [RCV001301214]	likely benign\|uncertain significance	15	72735971	72735971	Human	2	name , trait , alternate_id
150407440	CV1182459	single nucleotide variant	NM_033028.5(BBS4):c.643-102T>C	Bardet-Biedl syndrome 4 [RCV001553957]\|not provided [RCV004716775]	benign	15	72729514	72729514	Human	1	name
150407448	CV1182461	single nucleotide variant	NM_033028.5(BBS4):c.1248+68G>A	Bardet-Biedl syndrome 4 [RCV001553960]\|not provided [RCV004715513]	benign	15	72736034	72736034	Human	1	name
151721027	CV1494621	single nucleotide variant	NM_033028.5(BBS4):c.1107-11G>C	Bardet-Biedl syndrome 4 [RCV002492143]\|Bardet-Biedl syndrome [RCV001965979]	likely benign	15	72735814	72735814	Human	2	name
152153656	CV1523182	single nucleotide variant	NM_033028.5(BBS4):c.1106+17G>A	Bardet-Biedl syndrome [RCV002179829]	likely benign	15	72735199	72735199	Human	1	name
152127294	CV1533981	single nucleotide variant	NM_033028.5(BBS4):c.1107-14T>G	Bardet-Biedl syndrome [RCV002136479]	benign	15	72735811	72735811	Human	1	name
152033015	CV1542572	single nucleotide variant	NM_033028.5(BBS4):c.1107-19G>C	Bardet-Biedl syndrome [RCV002106483]	likely benign	15	72735806	72735806	Human	1	name
152115222	CV1641013	single nucleotide variant	NM_033028.5(BBS4):c.1249-12T>C	Bardet-Biedl syndrome [RCV002117090]	likely benign	15	72736750	72736750	Human	1	name
152054463	CV1665440	single nucleotide variant	NM_033028.5(BBS4):c.1036+19G>C	Bardet-Biedl syndrome [RCV002089537]	likely benign	15	72731745	72731745	Human	1	name
156297854	CV1894497	single nucleotide variant	NM_033028.5(BBS4):c.1451-20A>C	Bardet-Biedl syndrome [RCV003087774]	likely benign	15	72737458	72737458	Human	1	name
156060612	CV2155060	deletion	NM_033028.5(BBS4):c.1_2delGA	BBS4-related disorder [RCV004750246]\|Bardet-Biedl syndrome [RCV003000189]	likely benign\|uncertain significance	15	72737587	72737588	Human	2	name , trait , alternate_id
11545577	CV255355	single nucleotide variant	NM_033028.5(BBS4):c.1106+20T>C	Bardet-Biedl syndrome 4 [RCV002500926]\|Bardet-Biedl syndrome [RCV001518144]\|not provided [RCV004715807]\|not specified [RCV000245330]	benign	15	72735202	72735202	Human	2	name
11545338	CV255357	single nucleotide variant	NM_033028.5(BBS4):c.1249-35G>C	not provided [RCV004715808]\|not specified [RCV000245000]	benign	15	72736727	72736727	Human		name
11643969	CV268551	single nucleotide variant	NM_033028.5(BBS4):c.1450+10T>C	Bardet-Biedl syndrome [RCV002519147]\|not provided [RCV000403877]	likely benign\|uncertain significance	15	72736973	72736973	Human	1	name
405077990	CV2868237	single nucleotide variant	NM_033028.5(BBS4):c.1036+18G>A	Bardet-Biedl syndrome [RCV003524311]	likely benign	15	72731744	72731744	Human	1	name
404987052	CV2914491	single nucleotide variant	NM_033028.5(BBS4):c.1451-14T>C	Bardet-Biedl syndrome [RCV003524580]	likely benign	15	72737464	72737464	Human	1	name
405089848	CV2977177	single nucleotide variant	NM_033028.5(BBS4):c.1450+12C>G	Bardet-Biedl syndrome [RCV003634733]	likely benign	15	72736975	72736975	Human	1	name
405091966	CV2980166	single nucleotide variant	NM_033028.5(BBS4):c.1249-15C>A	Bardet-Biedl syndrome [RCV003634905]	likely benign	15	72736747	72736747	Human	1	name
405092425	CV2998526	single nucleotide variant	NM_033028.5(BBS4):c.1106+11T>G	Bardet-Biedl syndrome [RCV003634967]	likely benign	15	72735193	72735193	Human	1	name
405093630	CV3003335	single nucleotide variant	NM_033028.5(BBS4):c.1107-13C>T	Bardet-Biedl syndrome [RCV003635086]	likely benign	15	72735812	72735812	Human	1	name
405094287	CV3004011	deletion	NM_033028.5(BBS4):c.1451-14del	Bardet-Biedl syndrome [RCV003635145]	benign	15	72737460	72737460	Human	1	name
405070184	CV3026282	single nucleotide variant	NM_033028.5(BBS4):c.1249-11G>A	Bardet-Biedl syndrome [RCV003633073]	likely benign	15	72736751	72736751	Human	1	name
405074241	CV3043810	single nucleotide variant	NM_033028.5(BBS4):c.1451-20A>G	Bardet-Biedl syndrome [RCV003633337]	likely benign	15	72737458	72737458	Human	1	name
405075959	CV3056125	single nucleotide variant	NM_033028.5(BBS4):c.1107-17A>G	Bardet-Biedl syndrome [RCV003633459]	likely benign	15	72735808	72735808	Human	1	name
405136882	CV3115780	single nucleotide variant	NM_033028.5(BBS4):c.1036+11T>C	Bardet-Biedl syndrome [RCV003816437]	likely benign	15	72731737	72731737	Human	1	name
405056904	CV3147750	single nucleotide variant	NM_033028.5(BBS4):c.1248+18T>G	Bardet-Biedl syndrome [RCV003849980]	likely benign	15	72735984	72735984	Human	1	name
405188279	CV3149249	single nucleotide variant	NM_033028.5(BBS4):c.1036+19G>A	Bardet-Biedl syndrome [RCV003843175]	likely benign	15	72731745	72731745	Human	1	name
405197807	CV3168312	single nucleotide variant	NM_033028.5(BBS4):c.1450+11A>G	Bardet-Biedl syndrome [RCV003860444]	likely benign	15	72736974	72736974	Human	1	name
8601368	CV34584	single nucleotide variant	NM_033028.5(BBS4):c.1451-45T>C	Bardet-Biedl syndrome [RCV000020936]\|not provided [RCV004703184]\|not specified [RCV000252664]	benign\|likely benign	15	72737433	72737433	Human	1	name
597852728	CV3761910	single nucleotide variant	NM_033028.5(BBS4):c.1107-15C>T	Bardet-Biedl syndrome [RCV005088007]	likely benign	15	72735810	72735810	Human	1	name
597897293	CV3773892	single nucleotide variant	NM_033028.5(BBS4):c.1106+13T>C	Bardet-Biedl syndrome [RCV005111613]	likely benign	15	72735195	72735195	Human	1	name
597893043	CV3785064	single nucleotide variant	NM_033028.5(BBS4):c.1450+12C>T	Bardet-Biedl syndrome [RCV005125843]	likely benign	15	72736975	72736975	Human	1	name
597858820	CV3817076	duplication	NM_033028.5(BBS4):c.1248+11dup	Bardet-Biedl syndrome [RCV005146457]	benign	15	72735973	72735974	Human	1	name
150407444	CV1182460	single nucleotide variant	NM_033028.5(BBS4):c.1036+114G>A	Bardet-Biedl syndrome 4 [RCV001553959]\|not provided [RCV004716776]	benign	15	72731840	72731840	Human	1	name
152089811	CV1654736	microsatellite	NM_033028.5(BBS4):c.711+12TG[3]	Bardet-Biedl syndrome [RCV002212569]	likely benign	15	72729695	72729696	Human		name
155975433	CV2150990	deletion	NM_033028.5(BBS4):c.1_3delGAA	Bardet-Biedl syndrome [RCV003033627]	uncertain significance	15	72737586	72737588	Human	1	name
405265091	CV3201448	microsatellite	NM_033028.5(BBS4):c.865-12TC[3]	BBS4-related disorder [RCV003897206]\|Bardet-Biedl syndrome [RCV005064748]	likely benign	15	72731543	72731544	Human		name , trait , alternate_id
11602500	CV323344	deletion	NM_033028.5(BBS4):c.855_856del	Bardet-Biedl syndrome [RCV000291171]	uncertain significance	15	72738442	72738443	Human	1	name
127299695	CV1124551	single nucleotide variant	NM_033028.5(BBS4):c.6T>A (p.Ala2=)	BBS4-related disorder [RCV003900593]\|Bardet-Biedl syndrome [RCV001460895]	likely benign	15	72686233	72686233	Human	2	name , trait , alternate_id
405074484	CV2866712	deletion	NM_033028.5(BBS4):c.865-3_865-2del	Bardet-Biedl syndrome [RCV003524062]	likely pathogenic	15	72731551	72731552	Human	1	name
405070931	CV2912291	deletion	NM_033028.5(BBS4):c.1249-3_1259del	Bardet-Biedl syndrome [RCV003523816]	likely pathogenic	15	72736759	72736772	Human	1	name
405057781	CV2923150	microsatellite	NM_033028.5(BBS4):c.24+18_24+19del	Bardet-Biedl syndrome [RCV003522715]	likely benign	15	72686266	72686267	Human		name
405093447	CV2992883	single nucleotide variant	NM_033028.5(BBS4):c.6T>G (p.Ala2=)	Bardet-Biedl syndrome [RCV003635070]	likely benign	15	72686233	72686233	Human	1	name
405094419	CV3004314	deletion	NM_033028.5(BBS4):c.1234_1248+5del	Bardet-Biedl syndrome [RCV003635156]	likely pathogenic	15	72735950	72735969	Human	1	name
405071267	CV3024490	deletion	NM_033028.5(BBS4):c.588-9_588-8del	Bardet-Biedl syndrome [RCV003633155]	likely benign	15	72727930	72727931	Human	1	name
405084518	CV3079996	single nucleotide variant	NM_033028.5(BBS4):c.9G>A (p.Glu3=)	Bardet-Biedl syndrome [RCV003634313]	likely benign	15	72686236	72686236	Human	1	name
14349730	CV576238	deletion	NM_033028.4(BBS4):c.157-?_220+?del	Bardet-Biedl syndrome [RCV000735929]	pathogenic				Human	1	name
11548942	CV255347	single nucleotide variant	NM_033028.5(BBS4):c.12G>A (p.Glu4=)	Bardet-Biedl syndrome [RCV002519941]\|not specified [RCV000249755]	likely benign	15	72686239	72686239	Human	1	name
404987599	CV2918035	deletion	NM_033028.5(BBS4):c.1064_1106+97del	Bardet-Biedl syndrome [RCV003524703]	pathogenic	15	72735140	72735279	Human	1	name
405089459	CV3118415	single nucleotide variant	NM_033028.5(BBS4):c.18C>A (p.Val6=)	Bardet-Biedl syndrome [RCV003811057]	likely benign	15	72686245	72686245	Human	1	name
8601373	CV34589	single nucleotide variant	NM_033028.5(BBS4):c.18C>T (p.Val6=)	Bardet-Biedl syndrome [RCV000020941]	benign	15	72686245	72686245	Human	1	name
597730464	CV3704233	deletion	NM_033028.5(BBS4):c.4del (p.Ala2fs)	Bardet-Biedl syndrome 4 [RCV005011891]	likely pathogenic	15	72686230	72686230	Human	1	name
597942645	CV3779971	duplication	NM_033028.5(BBS4):c.711+3_711+12dup	Bardet-Biedl syndrome [RCV005118980]	likely benign	15	72729685	72729686	Human	1	name
126733321	CV1000908	insertion	NM_033028.5(BBS4):c.332+2_332+3insTT	Bardet-Biedl syndrome 4 [RCV003462883]\|not provided [RCV001311054]	pathogenic\|likely pathogenic	15	72715403	72715404	Human	1	name
127326927	CV1124552	single nucleotide variant	NM_033028.5(BBS4):c.39T>G (p.Pro13=)	Bardet-Biedl syndrome [RCV001468925]	likely benign	15	72695191	72695191	Human	1	name
151833728	CV1416677	deletion	NM_033028.5(BBS4):c.1450+2_1450+5del	Bardet-Biedl syndrome 4 [RCV005002710]\|Bardet-Biedl syndrome [RCV002014561]	likely pathogenic\|uncertain significance	15	72736962	72736965	Human	2	name
151855157	CV1466334	single nucleotide variant	NM_033028.5(BBS4):c.5C>T (p.Ala2Val)	Bardet-Biedl syndrome [RCV001883248]	uncertain significance	15	72686232	72686232	Human	1	name
152124996	CV1565471	single nucleotide variant	NM_033028.5(BBS4):c.78T>A (p.Ala26=)	Bardet-Biedl syndrome [RCV002136201]	likely benign	15	72709701	72709701	Human	1	name
152167351	CV1600609	deletion	NM_033028.5(BBS4):c.643-20_643-19del	Bardet-Biedl syndrome [RCV002160846]	likely benign	15	72729596	72729597	Human	1	name
152086123	CV1621194	microsatellite	NM_033028.5(BBS4):c.220+16_220+18del	Bardet-Biedl syndrome [RCV002193661]	likely benign	15	72712320	72712322	Human		name
152078651	CV1632152	single nucleotide variant	NM_033028.5(BBS4):c.94T>C (p.Leu32=)	Bardet-Biedl syndrome [RCV002130556]	likely benign	15	72709717	72709717	Human	1	name
11547625	CV255350	deletion	NM_033028.5(BBS4):c.642+14_642+20del	Bardet-Biedl syndrome [RCV003633492]\|not specified [RCV000248003]	likely benign	15	72728004	72728010	Human	1	name
405066078	CV2861111	single nucleotide variant	NM_033028.5(BBS4):c.99G>A (p.Glu33=)	Bardet-Biedl syndrome [RCV003523327]	likely benign	15	72709722	72709722	Human	1	name
404992346	CV2890532	single nucleotide variant	NM_033028.5(BBS4):c.84G>A (p.Glu28=)	Bardet-Biedl syndrome [RCV003525210]	likely benign	15	72709707	72709707	Human	1	name
404993306	CV2901498	deletion	NM_033028.5(BBS4):c.587+17_587+21del	Bardet-Biedl syndrome [RCV003525320]	likely benign	15	72724669	72724673	Human	1	name
405089384	CV2984235	single nucleotide variant	NM_033028.5(BBS4):c.57A>G (p.Gln19=)	Bardet-Biedl syndrome [RCV003634720]	likely benign	15	72695209	72695209	Human	1	name
405092367	CV3001453	single nucleotide variant	NM_033028.5(BBS4):c.66G>A (p.Arg22=)	Bardet-Biedl syndrome [RCV003634962]	likely benign	15	72695218	72695218	Human	1	name
405094701	CV3008267	microsatellite	NM_033028.5(BBS4):c.642+13_642+14del	Bardet-Biedl syndrome [RCV003635185]	likely benign	15	72728005	72728006	Human		name
405070726	CV3019979	deletion	NM_033028.5(BBS4):c.864+20_864+23del	Bardet-Biedl syndrome [RCV003633114]	likely benign	15	72731475	72731478	Human	1	name
405070392	CV3029934	single nucleotide variant	NM_033028.5(BBS4):c.48T>A (p.Thr16=)	Bardet-Biedl syndrome [RCV003633089]	likely benign	15	72695200	72695200	Human	1	name
405084572	CV3080118	deletion	NM_033028.5(BBS4):c.642+15_642+16del	Bardet-Biedl syndrome [RCV003634317]	likely benign	15	72728008	72728009	Human	1	name
405213935	CV3142815	single nucleotide variant	NM_033028.5(BBS4):c.48T>G (p.Thr16=)	Bardet-Biedl syndrome [RCV003846173]	likely benign	15	72695200	72695200	Human	1	name
405286903	CV3205535	deletion	NM_033028.5(BBS4):c.77-210_77-209del	BBS4-related disorder [RCV003959687]	likely benign	15	72709489	72709490	Human		name , trait , alternate_id
8601376	CV34592	single nucleotide variant	NM_033028.5(BBS4):c.42A>G (p.Val14=)	Bardet-Biedl syndrome [RCV000020944]	benign\|likely benign	15	72695194	72695194	Human	1	name
8601377	CV34593	single nucleotide variant	NM_033028.5(BBS4):c.8A>C (p.Glu3Ala)	Bardet-Biedl syndrome [RCV000020946]	benign	15	72686235	72686235	Human	1	name
13462439	CV439081	single nucleotide variant	NM_033028.5(BBS4):c.2T>C (p.Met1Thr)	Bardet-Biedl syndrome 4 [RCV005010463]\|Bardet-Biedl syndrome [RCV002524988]\|not provided [RCV000514162]	pathogenic\|likely pathogenic	15	72686229	72686229	Human	2	name
13503974	CV464492	single nucleotide variant	NM_033028.5(BBS4):c.906= (p.Phe302=)	Bardet-Biedl syndrome [RCV000549956]	benign	15	72731596	72731596	Human	1	name
28884205	CV874074	single nucleotide variant	NM_033028.5(BBS4):c.1A>G (p.Met1Val)	BBS4-related disorder [RCV004749606]\|Bardet-Biedl syndrome 4 [RCV005005051]\|Bardet-Biedl syndrome [RCV002556528]	pathogenic\|likely pathogenic\|uncertain significance	15	72686228	72686228	Human	2	name , trait , alternate_id
8635558	CV90780	single nucleotide variant	NM_033028.5(BBS4):c.63C>T (p.Pro21=)	Bardet-Biedl syndrome 4 [RCV001120609]\|Bardet-Biedl syndrome [RCV000866356]	likely benign\|uncertain significance\|not provided	15	72695215	72695215	Human	2	name
126921210	CV1049072	single nucleotide variant	NM_033028.5(BBS4):c.19G>C (p.Ala7Pro)	Bardet-Biedl syndrome [RCV001374258]	uncertain significance	15	72686246	72686246	Human	1	name
151772098	CV1366508	single nucleotide variant	NM_033028.5(BBS4):c.14G>C (p.Arg5Thr)	Bardet-Biedl syndrome [RCV001929620]	uncertain significance	15	72686241	72686241	Human	1	name
151860756	CV1386062	single nucleotide variant	NM_033028.5(BBS4):c.23C>T (p.Thr8Met)	BBS4-related disorder [RCV004749753]\|Bardet-Biedl syndrome [RCV001905246]	uncertain significance	15	72686250	72686250	Human	2	name , trait , alternate_id
151745012	CV1460788	single nucleotide variant	NM_033028.5(BBS4):c.153C>T (p.Cys51=)	Bardet-Biedl syndrome 4 [RCV002506958]\|Bardet-Biedl syndrome [RCV001871413]	likely benign\|uncertain significance	15	72709776	72709776	Human	2	name
151765845	CV1469789	single nucleotide variant	NM_033028.5(BBS4):c.10G>A (p.Glu4Lys)	Bardet-Biedl syndrome [RCV001914494]	uncertain significance	15	72686237	72686237	Human	1	name
151806067	CV1486936	single nucleotide variant	NM_033028.5(BBS4):c.276A>G (p.Thr92=)	Bardet-Biedl syndrome [RCV001918154]	likely benign\|uncertain significance	15	72715346	72715346	Human	1	name
151759968	CV1503973	single nucleotide variant	NM_033028.5(BBS4):c.19G>A (p.Ala7Thr)	Bardet-Biedl syndrome [RCV002007742]	uncertain significance	15	72686246	72686246	Human	1	name
152119537	CV1579157	single nucleotide variant	NM_033028.5(BBS4):c.243A>G (p.Gly81=)	Bardet-Biedl syndrome [RCV002081362]	likely benign	15	72715313	72715313	Human	1	name
152091744	CV1595955	single nucleotide variant	NM_033028.5(BBS4):c.189G>A (p.Gln63=)	Bardet-Biedl syndrome [RCV002077805]	likely benign	15	72712276	72712276	Human	1	name
156355606	CV1894834	single nucleotide variant	NM_033028.5(BBS4):c.192A>T (p.Gly64=)	Bardet-Biedl syndrome [RCV003091327]	likely benign	15	72712279	72712279	Human	1	name
156171123	CV1930189	single nucleotide variant	NM_033028.5(BBS4):c.10G>T (p.Glu4Ter)	Bardet-Biedl syndrome 4 [RCV003459766]\|Bardet-Biedl syndrome [RCV002624712]	pathogenic\|likely pathogenic	15	72686237	72686237	Human	2	name
156033211	CV2002499	single nucleotide variant	NM_033028.5(BBS4):c.174G>A (p.Gln58=)	Bardet-Biedl syndrome [RCV002658748]	likely benign	15	72712261	72712261	Human	1	name
155909294	CV2017526	single nucleotide variant	NM_033028.5(BBS4):c.261A>G (p.Leu87=)	BBS4-related disorder [RCV004749944]\|Bardet-Biedl syndrome [RCV002681596]	likely benign	15	72715331	72715331	Human	2	name , trait , alternate_id
155934515	CV2063702	single nucleotide variant	NM_033028.5(BBS4):c.10G>C (p.Glu4Gln)	Bardet-Biedl syndrome [RCV002838977]	uncertain significance	15	72686237	72686237	Human	1	name
156327983	CV2094569	single nucleotide variant	NM_033028.5(BBS4):c.246T>C (p.Asn82=)	Bardet-Biedl syndrome [RCV002899748]	likely benign	15	72715316	72715316	Human	1	name
156015040	CV2120484	single nucleotide variant	NM_033028.5(BBS4):c.20C>G (p.Ala7Gly)	Bardet-Biedl syndrome [RCV002975856]	uncertain significance	15	72686247	72686247	Human	1	name
156344689	CV2176252	single nucleotide variant	NM_033028.5(BBS4):c.16G>A (p.Val6Ile)	Bardet-Biedl syndrome [RCV003030492]	uncertain significance	15	72686243	72686243	Human	1	name
401946442	CV2833777	deletion	NM_033028.5(BBS4):c.87del (p.Pro30fs)	Bardet-Biedl syndrome 4 [RCV003465087]\|Bardet-Biedl syndrome [RCV003523202]	pathogenic\|likely pathogenic	15	72709708	72709708	Human	2	name
404987287	CV2921262	single nucleotide variant	NM_033028.5(BBS4):c.276A>C (p.Thr92=)	Bardet-Biedl syndrome [RCV003524670]	likely benign	15	72715346	72715346	Human	1	name
405093289	CV2999826	single nucleotide variant	NM_033028.5(BBS4):c.258C>A (p.Ser86=)	Bardet-Biedl syndrome [RCV003635054]	likely benign	15	72715328	72715328	Human	1	name
405069940	CV3019298	single nucleotide variant	NM_033028.5(BBS4):c.237A>G (p.Leu79=)	Bardet-Biedl syndrome [RCV003633056]	likely benign	15	72715307	72715307	Human	1	name
405069448	CV3022527	single nucleotide variant	NM_033028.5(BBS4):c.210C>A (p.Ile70=)	Bardet-Biedl syndrome [RCV003633021]	likely benign	15	72712297	72712297	Human	1	name
405083944	CV3070950	single nucleotide variant	NM_033028.5(BBS4):c.267C>T (p.Leu89=)	Bardet-Biedl syndrome [RCV003634239]	likely benign	15	72715337	72715337	Human	1	name
405218169	CV3161262	single nucleotide variant	NM_033028.5(BBS4):c.223T>C (p.Leu75=)	Bardet-Biedl syndrome [RCV003863131]	likely benign	15	72715293	72715293	Human	1	name
405224418	CV3168803	single nucleotide variant	NM_033028.5(BBS4):c.216C>T (p.Val72=)	Bardet-Biedl syndrome [RCV003864018]	likely benign	15	72712303	72712303	Human	1	name
405870391	CV3399879	deletion	NM_033028.5(BBS4):c.60del (p.Lys20fs)	Bardet-Biedl syndrome 4 [RCV004574027]	likely pathogenic	15	72695208	72695208	Human	1	name
8601372	CV34588	single nucleotide variant	NM_033028.5(BBS4):c.17T>C (p.Val6Ala)	Bardet-Biedl syndrome [RCV000020940]	benign	15	72686244	72686244	Human	1	name
8601374	CV34590	single nucleotide variant	NM_033028.5(BBS4):c.20C>T (p.Ala7Val)	BBS4-related disorder [RCV004748537]\|Bardet-Biedl syndrome [RCV000020942]	benign\|uncertain significance	15	72686247	72686247	Human	2	name , trait , alternate_id
8601375	CV34591	duplication	NM_033028.5(BBS4):c.28dup (p.Thr10fs)	Bardet-Biedl syndrome [RCV000020943]	benign	15	72695178	72695179	Human	1	name
408382688	CV3503596	single nucleotide variant	NM_033028.5(BBS4):c.25A>T (p.Arg9Ter)	BBS4-related disorder [RCV004730083]	likely pathogenic	15	72695177	72695177	Human		name , trait , alternate_id
408375512	CV3509910	single nucleotide variant	NM_033028.5(BBS4):c.17T>G (p.Val6Gly)	BBS4-related disorder [RCV004748150]	uncertain significance	15	72686244	72686244	Human		name , trait , alternate_id
597953986	CV3786586	single nucleotide variant	NM_033028.5(BBS4):c.210C>T (p.Ile70=)	Bardet-Biedl syndrome [RCV005121677]	likely benign	15	72712297	72712297	Human	1	name
597973775	CV3820697	single nucleotide variant	NM_033028.5(BBS4):c.138A>G (p.Lys46=)	Bardet-Biedl syndrome [RCV005168214]	likely benign	15	72709761	72709761	Human	1	name
13214671	CV429716	single nucleotide variant	NM_033028.5(BBS4):c.180A>G (p.Gln60=)	Bardet-Biedl syndrome 4 [RCV001120610]\|Bardet-Biedl syndrome [RCV000860719]\|not provided [RCV004715239]\|not specified [RCV000501555]	benign\|likely benign	15	72712267	72712267	Human	2	name
13475854	CV465365	single nucleotide variant	NM_033028.5(BBS4):c.282A>G (p.Ala94=)	BBS4-related disorder [RCV003915540]\|Bardet-Biedl syndrome [RCV000548912]	likely benign	15	72715352	72715352	Human	2	name , trait , alternate_id
14696293	CV622428	duplication	NM_033028.5(BBS4):c.75dup (p.Ala26fs)	Bardet-Biedl syndrome 4 [RCV000785020]	uncertain significance	15	72695221	72695222	Human	1	name
26909395	CV801447	microsatellite	NM_033028.5(BBS4):c.1107-10_1107-7del	BBS4-related disorder [RCV004749584]\|Bardet-Biedl syndrome [RCV002549225]\|Retinal dystrophy [RCV001073390]\|Retinitis pigmentosa [RCV001199439]	pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	15	72735811	72735814	Human		name , trait , alternate_id
126753250	CV1011595	single nucleotide variant	NM_033028.5(BBS4):c.65G>A (p.Arg22Gln)	BBS4-related disorder [RCV003399095]\|Bardet-Biedl syndrome 4 [RCV002504488]\|Bardet-Biedl syndrome [RCV001316446]	uncertain significance	15	72695217	72695217	Human	2	name , trait , alternate_id
126759220	CV1032125	single nucleotide variant	NM_033028.5(BBS4):c.61C>T (p.Pro21Ser)	Bardet-Biedl syndrome [RCV001340067]	uncertain significance	15	72695213	72695213	Human	1	name
127272745	CV1063418	deletion	NM_033028.5(BBS4):c.281del (p.Ala94fs)	Bardet-Biedl syndrome [RCV001390557]	pathogenic	15	72715351	72715351	Human	1	name
127245758	CV1081295	single nucleotide variant	NM_033028.5(BBS4):c.480T>C (p.Asn160=)	BBS4-related disorder [RCV003898380]\|Bardet-Biedl syndrome [RCV001393926]	likely benign	15	72724548	72724548	Human	2	name , trait , alternate_id
127267365	CV1081297	single nucleotide variant	NM_033028.5(BBS4):c.639A>G (p.Leu213=)	Bardet-Biedl syndrome [RCV001404075]	likely benign	15	72727991	72727991	Human	1	name
127281957	CV1081299	single nucleotide variant	NM_033028.5(BBS4):c.726A>G (p.Ala242=)	Bardet-Biedl syndrome [RCV001410794]	likely benign	15	72731319	72731319	Human	1	name
127243365	CV1081300	single nucleotide variant	NM_033028.5(BBS4):c.928T>C (p.Leu310=)	BBS4-related disorder [RCV003928874]\|Bardet-Biedl syndrome 4 [RCV002499828]\|Bardet-Biedl syndrome [RCV001393499]	likely benign	15	72731618	72731618	Human	2	name , trait , alternate_id
127269746	CV1103110	single nucleotide variant	NM_033028.5(BBS4):c.306T>C (p.Asp102=)	Bardet-Biedl syndrome [RCV001441163]	likely benign	15	72715376	72715376	Human	1	name
127252230	CV1103112	single nucleotide variant	NM_033028.5(BBS4):c.663A>G (p.Ala221=)	BBS4-related disorder [RCV003938760]\|Bardet-Biedl syndrome [RCV001436741]	likely benign	15	72729636	72729636	Human	2	name , trait , alternate_id
127276459	CV1103113	single nucleotide variant	NM_033028.5(BBS4):c.825C>T (p.Asn275=)	Bardet-Biedl syndrome [RCV001432816]	likely benign	15	72731418	72731418	Human	1	name
127329164	CV1124554	single nucleotide variant	NM_033028.5(BBS4):c.408G>A (p.Glu136=)	Bardet-Biedl syndrome 4 [RCV002476780]\|Bardet-Biedl syndrome [RCV001470012]	likely benign	15	72722796	72722796	Human	2	name
127319612	CV1124555	single nucleotide variant	NM_033028.5(BBS4):c.513T>C (p.Tyr171=)	BBS4-related disorder [RCV003965929]\|Bardet-Biedl syndrome [RCV001466596]	likely benign	15	72724581	72724581	Human	2	name , trait , alternate_id
127310421	CV1124556	single nucleotide variant	NM_033028.5(BBS4):c.714C>T (p.Ala238=)	Bardet-Biedl syndrome [RCV001456609]	likely benign	15	72731307	72731307	Human	1	name
127313992	CV1124557	single nucleotide variant	NM_033028.5(BBS4):c.777C>T (p.Tyr259=)	BBS4-related disorder [RCV004749696]\|Bardet-Biedl syndrome [RCV001464812]	likely benign	15	72731370	72731370	Human	2	name , trait , alternate_id
150490076	CV1274637	single nucleotide variant	NM_033028.5(BBS4):c.372T>C (p.Tyr124=)	BBS4-related disorder [RCV003956329]\|Bardet-Biedl syndrome [RCV002073289]\|not provided [RCV001727956]\|not specified [RCV001700636]	benign\|likely benign	15	72716817	72716817	Human	2	name , trait , alternate_id
151761491	CV1400652	single nucleotide variant	NM_033028.5(BBS4):c.987G>A (p.Ala329=)	Bardet-Biedl syndrome [RCV002007917]	likely benign\|uncertain significance	15	72731677	72731677	Human	1	name
151763173	CV1447472	single nucleotide variant	NM_033028.5(BBS4):c.31C>G (p.Gln11Glu)	Bardet-Biedl syndrome [RCV001895571]	uncertain significance	15	72695183	72695183	Human	1	name
151732806	CV1509809	single nucleotide variant	NM_033028.5(BBS4):c.77C>T (p.Ala26Val)	Bardet-Biedl syndrome [RCV001892434]	uncertain significance	15	72709700	72709700	Human	1	name
152046713	CV1519660	single nucleotide variant	NM_033028.5(BBS4):c.501C>T (p.His167=)	Bardet-Biedl syndrome 4 [RCV002500095]\|Bardet-Biedl syndrome [RCV002145167]	likely benign	15	72724569	72724569	Human	2	name
152160996	CV1530968	single nucleotide variant	NM_033028.5(BBS4):c.402T>C (p.Asp134=)	Bardet-Biedl syndrome [RCV002123189]	likely benign	15	72716847	72716847	Human	1	name
152161060	CV1530985	single nucleotide variant	NM_033028.5(BBS4):c.636C>T (p.Tyr212=)	BBS4-related disorder [RCV004749869]\|Bardet-Biedl syndrome [RCV002123200]	likely benign	15	72727988	72727988	Human	2	name , trait , alternate_id
152114500	CV1537340	single nucleotide variant	NM_033028.5(BBS4):c.531C>T (p.Ile177=)	Bardet-Biedl syndrome [RCV002134920]	likely benign	15	72724599	72724599	Human	1	name
152038818	CV1538159	single nucleotide variant	NM_033028.5(BBS4):c.879G>T (p.Leu293=)	Bardet-Biedl syndrome [RCV002206026]	likely benign	15	72731569	72731569	Human	1	name
152148919	CV1545296	single nucleotide variant	NM_033028.5(BBS4):c.708C>T (p.Tyr236=)	BBS4-related disorder [RCV004749870]\|Bardet-Biedl syndrome [RCV002121470]	likely benign	15	72729681	72729681	Human	2	name , trait , alternate_id
152149816	CV1545460	single nucleotide variant	NM_033028.5(BBS4):c.624A>G (p.Leu208=)	Bardet-Biedl syndrome [RCV002121583]	likely benign	15	72727976	72727976	Human	1	name
152151414	CV1550230	single nucleotide variant	NM_033028.5(BBS4):c.325A>C (p.Arg109=)	BBS4-related disorder [RCV003893156]\|Bardet-Biedl syndrome [RCV002202028]	likely benign	15	72715395	72715395	Human	2	name , trait , alternate_id
152154748	CV1556515	single nucleotide variant	NM_033028.5(BBS4):c.645C>T (p.Leu215=)	BBS4-related disorder [RCV003958683]\|Bardet-Biedl syndrome [RCV002122259]	likely benign	15	72729618	72729618	Human	2	name , trait , alternate_id
152037841	CV1596517	single nucleotide variant	NM_033028.5(BBS4):c.535T>C (p.Leu179=)	Bardet-Biedl syndrome [RCV002125636]	likely benign	15	72724603	72724603	Human	1	name
152167644	CV1611571	single nucleotide variant	NM_033028.5(BBS4):c.747C>T (p.His249=)	BBS4-related disorder [RCV003958508]\|Bardet-Biedl syndrome [RCV002182223]	likely benign	15	72731340	72731340	Human	2	name , trait , alternate_id
152073859	CV1615525	single nucleotide variant	NM_033028.5(BBS4):c.420C>T (p.Asn140=)	Bardet-Biedl syndrome [RCV002091954]	likely benign	15	72722808	72722808	Human	1	name
152164099	CV1619635	single nucleotide variant	NM_033028.5(BBS4):c.963A>G (p.Ala321=)	BBS4-related disorder [RCV003933659]\|Bardet-Biedl syndrome [RCV002181467]	likely benign	15	72731653	72731653	Human	2	name , trait , alternate_id
152171538	CV1628404	single nucleotide variant	NM_033028.5(BBS4):c.555C>T (p.Asp185=)	Bardet-Biedl syndrome [RCV002183533]	likely benign	15	72724623	72724623	Human	1	name
152140157	CV1628727	single nucleotide variant	NM_033028.5(BBS4):c.741G>A (p.Gln247=)	Bardet-Biedl syndrome [RCV002100662]	likely benign	15	72731334	72731334	Human	1	name
9692709	CV177150	single nucleotide variant	NM_033028.5(BBS4):c.64C>T (p.Arg22Trp)	BBS4-related disorder [RCV003415997]\|Bardet-Biedl syndrome 4 [RCV001823716]\|Bardet-Biedl syndrome [RCV001246608]\|not provided [RCV000152837]	uncertain significance	15	72695216	72695216	Human	2	name , trait , alternate_id
155727724	CV1773792	single nucleotide variant	NM_033028.5(BBS4):c.85T>G (p.Phe29Val)	Bardet-Biedl syndrome [RCV002301557]	uncertain significance	15	72709708	72709708	Human	1	name
9688589	CV177513	single nucleotide variant	NM_033028.5(BBS4):c.906T>C (p.Phe302=)	Bardet-Biedl syndrome 4 [RCV001553958]\|Bardet-Biedl syndrome [RCV000860196]\|not provided [RCV004714516]\|not specified [RCV000152839]	benign	15	72731596	72731596	Human	2	name
10053489	CV196336	single nucleotide variant	NM_033028.5(BBS4):c.627A>T (p.Gly209=)	not provided [RCV000180694]	uncertain significance	15	72727979	72727979	Human		name
156207584	CV1986794	single nucleotide variant	NM_033028.5(BBS4):c.435C>T (p.Tyr145=)	Bardet-Biedl syndrome [RCV002625959]	uncertain significance	15	72722823	72722823	Human	1	name
156245914	CV1991845	single nucleotide variant	NM_033028.5(BBS4):c.472T>C (p.Leu158=)	Bardet-Biedl syndrome [RCV002645735]	likely benign	15	72724540	72724540	Human	1	name
156039472	CV1998946	single nucleotide variant	NM_033028.5(BBS4):c.633C>G (p.Leu211=)	Bardet-Biedl syndrome [RCV002658977]	likely benign	15	72727985	72727985	Human	1	name
156121081	CV2013845	single nucleotide variant	NM_033028.5(BBS4):c.67C>T (p.Gln23Ter)	Bardet-Biedl syndrome 4 [RCV004571215]\|Bardet-Biedl syndrome [RCV002740200]	pathogenic\|likely pathogenic	15	72695219	72695219	Human	2	name
155934299	CV2027414	single nucleotide variant	NM_033028.5(BBS4):c.870C>T (p.Ile290=)	Bardet-Biedl syndrome [RCV002774760]	likely benign	15	72731560	72731560	Human	1	name
156214812	CV2039001	single nucleotide variant	NM_033028.5(BBS4):c.534C>T (p.His178=)	Bardet-Biedl syndrome [RCV002766751]	likely benign	15	72724602	72724602	Human	1	name
156158884	CV2049428	single nucleotide variant	NM_033028.5(BBS4):c.732C>T (p.Ser244=)	Bardet-Biedl syndrome [RCV002801555]	likely benign	15	72731325	72731325	Human	1	name
156340742	CV2055367	single nucleotide variant	NM_033028.5(BBS4):c.939C>T (p.Val313=)	Bardet-Biedl syndrome [RCV002811186]	likely benign	15	72731629	72731629	Human	1	name
156116179	CV2086396	single nucleotide variant	NM_033028.5(BBS4):c.495T>C (p.Asn165=)	Bardet-Biedl syndrome [RCV002871084]	likely benign	15	72724563	72724563	Human	1	name
156233152	CV2112583	single nucleotide variant	NM_033028.5(BBS4):c.340T>C (p.Leu114=)	Bardet-Biedl syndrome [RCV002932913]	likely benign	15	72716785	72716785	Human	1	name
156184167	CV2152011	single nucleotide variant	NM_033028.5(BBS4):c.921G>A (p.Leu307=)	Bardet-Biedl syndrome [RCV003005801]	likely benign	15	72731611	72731611	Human	1	name
329351125	CV2476275	deletion	NM_033028.5(BBS4):c.217del (p.Gln73fs)	Bardet-Biedl syndrome [RCV003222516]	pathogenic	15	72712303	72712303	Human	1	name
401946392	CV2833758	deletion	NM_033028.5(BBS4):c.150del (p.Cys51fs)	Bardet-Biedl syndrome 4 [RCV003465068]	likely pathogenic	15	72709772	72709772	Human	1	name
401946418	CV2833768	single nucleotide variant	NM_033028.5(BBS4):c.55C>T (p.Gln19Ter)	Bardet-Biedl syndrome 4 [RCV003465078]\|Bardet-Biedl syndrome [RCV003523201]	pathogenic\|likely pathogenic	15	72695207	72695207	Human	2	name
401946432	CV2833773	deletion	NM_033028.5(BBS4):c.101del (p.Lys34fs)	Bardet-Biedl syndrome 4 [RCV003465083]	likely pathogenic	15	72709723	72709723	Human	1	name
401946436	CV2833775	single nucleotide variant	NM_033028.5(BBS4):c.95T>A (p.Leu32Ter)	Bardet-Biedl syndrome 4 [RCV003465085]	likely pathogenic	15	72709718	72709718	Human	1	name
401946452	CV2833781	single nucleotide variant	NM_033028.5(BBS4):c.31C>T (p.Gln11Ter)	Bardet-Biedl syndrome 4 [RCV003465091]\|Bardet-Biedl syndrome [RCV003633724]	pathogenic	15	72695183	72695183	Human	2	name
405075157	CV2860408	single nucleotide variant	NM_033028.5(BBS4):c.549C>T (p.Asp183=)	Bardet-Biedl syndrome [RCV003524107]	likely benign	15	72724617	72724617	Human	1	name
405063137	CV2860539	single nucleotide variant	NM_033028.5(BBS4):c.456C>T (p.Asn152=)	Bardet-Biedl syndrome [RCV003523268]	likely benign	15	72722844	72722844	Human	1	name
405075931	CV2867113	single nucleotide variant	NM_033028.5(BBS4):c.489T>C (p.Asn163=)	Bardet-Biedl syndrome [RCV003524157]	likely benign	15	72724557	72724557	Human	1	name
405076664	CV2871052	single nucleotide variant	NM_033028.5(BBS4):c.861G>A (p.Val287=)	Bardet-Biedl syndrome [RCV003524205]	likely benign	15	72731454	72731454	Human	1	name
405077761	CV2871690	deletion	NM_033028.5(BBS4):c.1450+17_1450+22del	Bardet-Biedl syndrome [RCV003524293]	likely benign	15	72736980	72736985	Human	1	name
404990395	CV2883079	single nucleotide variant	NM_033028.5(BBS4):c.520C>T (p.Leu174=)	Bardet-Biedl syndrome [RCV003524994]	likely benign	15	72724588	72724588	Human	1	name
404990147	CV2886537	single nucleotide variant	NM_033028.5(BBS4):c.465A>G (p.Gln155=)	Bardet-Biedl syndrome [RCV003524969]	likely benign	15	72724533	72724533	Human	1	name
405069848	CV2903977	single nucleotide variant	NM_033028.5(BBS4):c.507G>T (p.Leu169=)	Bardet-Biedl syndrome [RCV003523741]	likely benign	15	72724575	72724575	Human	1	name
404986816	CV2917605	single nucleotide variant	NM_033028.5(BBS4):c.369A>G (p.Val123=)	Bardet-Biedl syndrome [RCV003524635]	likely benign	15	72716814	72716814	Human	1	name
405078827	CV2919337	single nucleotide variant	NM_033028.5(BBS4):c.354A>G (p.Lys118=)	Bardet-Biedl syndrome [RCV003524383]	likely benign	15	72716799	72716799	Human	1	name
405086039	CV2951585	single nucleotide variant	NM_033028.5(BBS4):c.837T>C (p.Cys279=)	Bardet-Biedl syndrome [RCV003634445]	likely benign	15	72731430	72731430	Human	1	name
405080443	CV2954130	single nucleotide variant	NM_033028.5(BBS4):c.894C>T (p.Tyr298=)	Bardet-Biedl syndrome [RCV003633949]	likely benign	15	72731584	72731584	Human	1	name
405086142	CV2961949	single nucleotide variant	NM_033028.5(BBS4):c.348A>G (p.Lys116=)	Bardet-Biedl syndrome [RCV003634453]	likely benign	15	72716793	72716793	Human	1	name
405087936	CV2967986	single nucleotide variant	NM_033028.5(BBS4):c.744C>T (p.Thr248=)	Bardet-Biedl syndrome [RCV003634576]	likely benign	15	72731337	72731337	Human	1	name
405090453	CV2981595	single nucleotide variant	NM_033028.5(BBS4):c.750G>A (p.Gly250=)	Bardet-Biedl syndrome [RCV003634782]	likely benign	15	72731343	72731343	Human	1	name
405090038	CV2984386	single nucleotide variant	NM_033028.5(BBS4):c.570C>G (p.Val190=)	Bardet-Biedl syndrome [RCV003634749]	likely benign	15	72724638	72724638	Human	1	name
405094016	CV3001163	single nucleotide variant	NM_033028.5(BBS4):c.885A>C (p.Arg295=)	Bardet-Biedl syndrome [RCV003634941]	likely benign	15	72731575	72731575	Human	1	name
405094979	CV3012298	single nucleotide variant	NM_033028.5(BBS4):c.360C>T (p.Ala120=)	Bardet-Biedl syndrome [RCV003635212]	likely benign	15	72716805	72716805	Human	1	name
405075009	CV3054863	single nucleotide variant	NM_033028.5(BBS4):c.858T>C (p.Tyr286=)	BBS4-related disorder [RCV004750417]\|Bardet-Biedl syndrome [RCV003633394]	likely benign	15	72731451	72731451	Human	2	name , trait , alternate_id
404976987	CV3117465	single nucleotide variant	NM_033028.5(BBS4):c.507G>A (p.Leu169=)	Bardet-Biedl syndrome [RCV003825237]	likely benign	15	72724575	72724575	Human	1	name
405149992	CV3123291	single nucleotide variant	NM_033028.5(BBS4):c.921G>C (p.Leu307=)	Bardet-Biedl syndrome [RCV003817524]	likely benign	15	72731611	72731611	Human	1	name
405110738	CV3133187	single nucleotide variant	NM_033028.5(BBS4):c.789T>C (p.Ala263=)	Bardet-Biedl syndrome [RCV003836173]	likely benign	15	72731382	72731382	Human	1	name
405058402	CV3134881	single nucleotide variant	NM_033028.5(BBS4):c.927T>C (p.Asn309=)	Bardet-Biedl syndrome [RCV003832553]	likely benign	15	72731617	72731617	Human	1	name
405094548	CV3164236	single nucleotide variant	NM_033028.5(BBS4):c.342G>A (p.Leu114=)	Bardet-Biedl syndrome [RCV003852551]	likely benign	15	72716787	72716787	Human	1	name
402475870	CV3173706	single nucleotide variant	NM_033028.5(BBS4):c.984T>C (p.Ser328=)	Bardet-Biedl syndrome [RCV003875244]	likely benign	15	72731674	72731674	Human	1	name
405262948	CV3189444	single nucleotide variant	NM_033028.5(BBS4):c.693T>C (p.Tyr231=)	BBS4-related disorder [RCV003896678]	likely benign	15	72729666	72729666	Human		name , trait , alternate_id
405258622	CV3194019	single nucleotide variant	NM_033028.5(BBS4):c.948C>A (p.Thr316=)	BBS4-related disorder [RCV003893601]\|Bardet-Biedl syndrome [RCV005101496]	likely benign	15	72731638	72731638	Human	2	name , trait , alternate_id
11611825	CV323310	single nucleotide variant	NM_033028.5(BBS4):c.37C>T (p.Pro13Ser)	Bardet-Biedl syndrome 4 [RCV001094446]\|Bardet-Biedl syndrome [RCV000400282]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	15	72695189	72695189	Human	2	name
405870389	CV3399878	deletion	NM_033028.5(BBS4):c.118del (p.His40fs)	Bardet-Biedl syndrome 4 [RCV004574026]	likely pathogenic	15	72709741	72709741	Human	1	name
405872340	CV3399882	deletion	NM_033028.5(BBS4):c.175del (p.Leu59fs)	Bardet-Biedl syndrome 4 [RCV004575385]	likely pathogenic	15	72712262	72712262	Human	1	name
8601378	CV34594	single nucleotide variant	NM_033028.5(BBS4):c.91A>G (p.Ile31Val)	Bardet-Biedl syndrome [RCV000020947]	benign	15	72709714	72709714	Human	1	name
597730573	CV3704246	single nucleotide variant	NM_033028.5(BBS4):c.486G>C (p.Leu162=)	Bardet-Biedl syndrome 4 [RCV005011901]	uncertain significance	15	72724554	72724554	Human	1	name
597872540	CV3747184	single nucleotide variant	NM_033028.5(BBS4):c.813A>C (p.Pro271=)	Bardet-Biedl syndrome [RCV005068868]	likely benign	15	72731406	72731406	Human	1	name
597873458	CV3768899	single nucleotide variant	NM_033028.5(BBS4):c.681T>C (p.Asn227=)	Bardet-Biedl syndrome [RCV005123069]	likely benign	15	72729654	72729654	Human	1	name
13606513	CV529420	single nucleotide variant	NM_033028.5(BBS4):c.864G>A (p.Ala288=)	Bardet-Biedl syndrome 4 [RCV002467947]\|Bardet-Biedl syndrome [RCV000638350]\|not provided [RCV001537497]	likely benign\|uncertain significance	15	72731457	72731457	Human	2	name
15144106	CV688482	single nucleotide variant	NM_033028.5(BBS4):c.546A>G (p.Gly182=)	BBS4-related disorder [RCV003948106]\|Bardet-Biedl syndrome [RCV001439811]	likely benign	15	72724614	72724614	Human	2	name , trait , alternate_id
15150900	CV688483	single nucleotide variant	NM_033028.5(BBS4):c.573C>T (p.Tyr191=)	BBS4-related disorder [RCV004749488]\|Bardet-Biedl syndrome [RCV001442538]	likely benign	15	72724641	72724641	Human	2	name , trait , alternate_id
15105036	CV703317	single nucleotide variant	NM_033028.5(BBS4):c.861G>T (p.Val287=)	Bardet-Biedl syndrome [RCV000959805]	likely benign	15	72731454	72731454	Human	1	name
15116270	CV754657	single nucleotide variant	NM_033028.5(BBS4):c.943T>C (p.Leu315=)	Bardet-Biedl syndrome 4 [RCV002479067]\|Bardet-Biedl syndrome [RCV002540926]	likely benign	15	72731633	72731633	Human	2	name
28874998	CV874076	single nucleotide variant	NM_033028.5(BBS4):c.684A>C (p.Ala228=)	Bardet-Biedl syndrome 4 [RCV001115698]\|Bardet-Biedl syndrome [RCV002069860]	likely benign\|uncertain significance	15	72729657	72729657	Human	2	name
38470293	CV937047	single nucleotide variant	NM_033028.5(BBS4):c.80C>T (p.Pro27Leu)	Bardet-Biedl syndrome 4 [RCV002497728]\|Bardet-Biedl syndrome [RCV001213528]\|Inborn genetic diseases [RCV004601393]	uncertain significance	15	72709703	72709703	Human	3	name
126915359	CV1049077	single nucleotide variant	NM_033028.5(BBS4):c.1158C>T (p.Gly386=)	BBS4-related disorder [RCV003405616]\|Bardet-Biedl syndrome [RCV001370868]	likely benign\|uncertain significance	15	72735876	72735876	Human	2	name , trait , alternate_id
127270029	CV1063419	deletion	NM_033028.5(BBS4):c.929del (p.Leu310fs)	Bardet-Biedl syndrome 4 [RCV003136062]\|Bardet-Biedl syndrome [RCV001389713]	pathogenic\|likely pathogenic	15	72731617	72731617	Human	2	name
127273142	CV1081301	single nucleotide variant	NM_033028.5(BBS4):c.1311C>G (p.Thr437=)	BBS4-related disorder [RCV004749681]\|Bardet-Biedl syndrome 4 [RCV002493961]\|Bardet-Biedl syndrome [RCV001405918]\|not specified [RCV001820101]	likely benign	15	72736824	72736824	Human	2	name , trait , alternate_id
127247834	CV1103114	single nucleotide variant	NM_033028.5(BBS4):c.1494T>G (p.Pro498=)	Bardet-Biedl syndrome [RCV001435699]	likely benign	15	72737521	72737521	Human	1	name
127245315	CV1103115	single nucleotide variant	NM_033028.5(BBS4):c.1515G>A (p.Val505=)	Bardet-Biedl syndrome [RCV001435194]	likely benign	15	72737542	72737542	Human	1	name
127287108	CV1145400	single nucleotide variant	NM_033028.5(BBS4):c.181G>A (p.Glu61Lys)	Bardet-Biedl syndrome [RCV001494740]	likely benign	15	72712268	72712268	Human	1	name
127286289	CV1161906	single nucleotide variant	NM_033028.5(BBS4):c.187C>T (p.Gln63Ter)	Bardet-Biedl syndrome 4 [RCV001526709]\|Bardet-Biedl syndrome [RCV002568131]	pathogenic	15	72712274	72712274	Human	2	name
150489799	CV1274571	single nucleotide variant	NM_033028.5(BBS4):c.1482C>A (p.Pro494=)	not provided [RCV001726657]\|not specified [RCV001700556]	benign\|likely benign	15	72737509	72737509	Human		name
150546619	CV1291564	single nucleotide variant	NM_033028.5(BBS4):c.214G>A (p.Val72Ile)	BBS4-related disorder [RCV004749724]\|Bardet-Biedl syndrome 4 [RCV005005270]\|Bardet-Biedl syndrome [RCV001861035]\|Inborn genetic diseases [RCV004601520]\|not provided [RCV001733336]	uncertain significance	15	72712301	72712301	Human	3	name , trait , alternate_id
151722413	CV1361662	single nucleotide variant	NM_033028.5(BBS4):c.240A>C (p.Glu80Asp)	Bardet-Biedl syndrome [RCV001945104]	uncertain significance	15	72715310	72715310	Human	1	name
151836138	CV1367083	single nucleotide variant	NM_033028.5(BBS4):c.233G>A (p.Arg78His)	BBS4-related disorder [RCV003941238]\|Bardet-Biedl syndrome 4 [RCV002484923]\|Bardet-Biedl syndrome [RCV001994210]	uncertain significance	15	72715303	72715303	Human	2	name , trait , alternate_id
151849850	CV1368589	single nucleotide variant	NM_033028.5(BBS4):c.252A>T (p.Gln84His)	Bardet-Biedl syndrome [RCV001978778]	uncertain significance	15	72715322	72715322	Human	1	name
151770076	CV1481724	single nucleotide variant	NM_033028.5(BBS4):c.1248G>A (p.Glu416=)	Bardet-Biedl syndrome 4 [RCV002479679]\|Bardet-Biedl syndrome [RCV002008760]	uncertain significance	15	72735966	72735966	Human	2	name
151755845	CV1516909	single nucleotide variant	NM_033028.5(BBS4):c.179A>G (p.Gln60Arg)	Bardet-Biedl syndrome [RCV002043742]	uncertain significance	15	72712266	72712266	Human	1	name
152072307	CV1549350	single nucleotide variant	NM_033028.5(BBS4):c.1443C>T (p.Leu481=)	Bardet-Biedl syndrome [RCV002091755]	likely benign	15	72736956	72736956	Human	1	name
152078685	CV1632176	single nucleotide variant	NM_033028.5(BBS4):c.1270T>C (p.Leu424=)	BBS4-related disorder [RCV004749872]\|Bardet-Biedl syndrome [RCV002130561]	likely benign	15	72736783	72736783	Human	2	name , trait , alternate_id
152028564	CV1642842	single nucleotide variant	NM_033028.5(BBS4):c.1170C>T (p.Asn390=)	BBS4-related disorder [RCV003978897]\|Bardet-Biedl syndrome 4 [RCV002500394]\|Bardet-Biedl syndrome [RCV002185877]	likely benign	15	72735888	72735888	Human	2	name , trait , alternate_id
152058428	CV1656730	single nucleotide variant	NM_033028.5(BBS4):c.1347C>T (p.Thr449=)	Bardet-Biedl syndrome [RCV002109827]	likely benign	15	72736860	72736860	Human	1	name
156438289	CV1692978	single nucleotide variant	NM_033028.5(BBS4):c.220G>A (p.Ala74Thr)	Bardet-Biedl syndrome 4 [RCV003107988]	pathogenic	15	72712307	72712307	Human	1	name
155948759	CV1869243	single nucleotide variant	NM_033028.5(BBS4):c.1356C>T (p.Thr452=)	Bardet-Biedl syndrome [RCV003074019]	likely benign	15	72736869	72736869	Human	1	name
156205133	CV1922693	duplication	NM_033028.5(BBS4):c.616dup (p.Thr206fs)	BBS4-related disorder [RCV003404113]\|Bardet-Biedl syndrome 4 [RCV003459762]\|Bardet-Biedl syndrome [RCV002643779]	pathogenic\|likely pathogenic	15	72727967	72727968	Human	2	name , trait , alternate_id
156055801	CV1934128	duplication	NM_033028.5(BBS4):c.514dup (p.Ile172fs)	BBS4-related disorder [RCV004750304]\|Bardet-Biedl syndrome 4 [RCV003459768]\|Bardet-Biedl syndrome [RCV002638103]	pathogenic\|likely pathogenic	15	72724581	72724582	Human	2	name , trait , alternate_id
10051654	CV193731	single nucleotide variant	NM_033028.5(BBS4):c.137A>G (p.Lys46Arg)	Bardet-Biedl syndrome 1 [RCV000709674]\|Bardet-Biedl syndrome 4 [RCV001119683]\|Bardet-Biedl syndrome [RCV001085083]\|not provided [RCV000425800]\|not specified [RCV000177393]	benign\|likely benign\|conflicting interpretations of pathogenicity	15	72709760	72709760	Human	3	name
10052242	CV194525	single nucleotide variant	NM_033028.5(BBS4):c.208A>G (p.Ile70Val)	BBS4-related disorder [RCV003977463]\|Bardet-Biedl syndrome 4 [RCV001120611]\|Bardet-Biedl syndrome [RCV001080709]\|not provided [RCV000178378]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	15	72712295	72712295	Human	2	name , trait , alternate_id
156220967	CV1960204	single nucleotide variant	NM_033028.5(BBS4):c.226A>G (p.Ile76Val)	Bardet-Biedl syndrome [RCV002575525]	uncertain significance	15	72715296	72715296	Human	1	name
156399953	CV1982196	single nucleotide variant	NM_033028.5(BBS4):c.1302G>C (p.Leu434=)	Bardet-Biedl syndrome [RCV002635875]	likely benign	15	72736815	72736815	Human	1	name
156398232	CV1985441	single nucleotide variant	NM_033028.5(BBS4):c.1254G>A (p.Val418=)	Bardet-Biedl syndrome [RCV002635719]	likely benign	15	72736767	72736767	Human	1	name
156102105	CV2011641	single nucleotide variant	NM_033028.5(BBS4):c.133C>T (p.Arg45Trp)	BBS4-related disorder [RCV004749947]\|Bardet-Biedl syndrome 4 [RCV005008699]\|Bardet-Biedl syndrome [RCV002695346]\|Inborn genetic diseases [RCV005301172]	uncertain significance	15	72709756	72709756	Human	3	name , trait , alternate_id
156264611	CV2030349	single nucleotide variant	NM_033028.5(BBS4):c.1299A>G (p.Ala433=)	Bardet-Biedl syndrome [RCV002746426]	likely benign	15	72736812	72736812	Human	1	name
155908422	CV2044589	single nucleotide variant	NM_033028.5(BBS4):c.1074G>A (p.Lys358=)	Bardet-Biedl syndrome [RCV002771404]	likely benign	15	72735150	72735150	Human	1	name
156337697	CV2057856	single nucleotide variant	NM_033028.5(BBS4):c.116T>C (p.Ile39Thr)	Bardet-Biedl syndrome [RCV002811027]	uncertain significance	15	72709739	72709739	Human	1	name
156101032	CV2087999	single nucleotide variant	NM_033028.5(BBS4):c.1227C>T (p.Ser409=)	Bardet-Biedl syndrome [RCV002848084]	likely benign	15	72735945	72735945	Human	1	name
155977322	CV2132488	single nucleotide variant	NM_033028.5(BBS4):c.1545A>G (p.Gln515=)	Bardet-Biedl syndrome [RCV002995920]	likely benign	15	72737572	72737572	Human	1	name
156291045	CV2192369	single nucleotide variant	NM_033028.5(BBS4):c.1101G>A (p.Leu367=)	Bardet-Biedl syndrome [RCV003045144]	likely benign	15	72735177	72735177	Human	1	name
156249508	CV2215562	single nucleotide variant	NM_033028.5(BBS4):c.248T>C (p.Ile83Thr)	Inborn genetic diseases [RCV002702352]	uncertain significance	15	72715318	72715318	Human	1	name
156238180	CV2235761	single nucleotide variant	NM_033028.5(BBS4):c.146A>C (p.Glu49Ala)	Inborn genetic diseases [RCV002768092]	uncertain significance	15	72709769	72709769	Human	1	name
156130648	CV2279844	single nucleotide variant	NM_033028.5(BBS4):c.124C>T (p.His42Tyr)	Inborn genetic diseases [RCV002849672]	uncertain significance	15	72709747	72709747	Human	1	name
11558316	CV260918	single nucleotide variant	NM_033028.5(BBS4):c.172C>T (p.Gln58Ter)	Bardet-Biedl syndrome 4 [RCV003463722]\|Bardet-Biedl syndrome [RCV000256420]	pathogenic	15	72712259	72712259	Human	2	name
401773746	CV2727621	single nucleotide variant	NM_033028.5(BBS4):c.130A>G (p.Ile44Val)	Inborn genetic diseases [RCV003305073]	uncertain significance	15	72709753	72709753	Human	1	name
401946408	CV2833764	single nucleotide variant	NM_033028.5(BBS4):c.295C>T (p.Gln99Ter)	Bardet-Biedl syndrome 4 [RCV003465074]	likely pathogenic	15	72715365	72715365	Human	1	name
401946455	CV2833782	single nucleotide variant	NM_033028.5(BBS4):c.103C>T (p.Gln35Ter)	Bardet-Biedl syndrome 4 [RCV003465092]	likely pathogenic	15	72709726	72709726	Human	1	name
401946469	CV2833787	duplication	NM_033028.5(BBS4):c.511dup (p.Tyr171fs)	Bardet-Biedl syndrome 4 [RCV003465097]	likely pathogenic	15	72724577	72724578	Human	1	name
405064367	CV2861455	single nucleotide variant	NM_033028.5(BBS4):c.1020C>T (p.Leu340=)	Bardet-Biedl syndrome [RCV003523374]	likely benign	15	72731710	72731710	Human	1	name
405050455	CV2868851	deletion	NM_033028.5(BBS4):c.469del (p.Gln157fs)	Bardet-Biedl syndrome [RCV003522114]	pathogenic	15	72724536	72724536	Human	1	name
405052025	CV2869518	single nucleotide variant	NM_033028.5(BBS4):c.1329C>G (p.Pro443=)	Bardet-Biedl syndrome [RCV003522224]	likely benign	15	72736842	72736842	Human	1	name
405075687	CV2870392	single nucleotide variant	NM_033028.5(BBS4):c.1173C>T (p.Ala391=)	Bardet-Biedl syndrome [RCV003524142]	likely benign	15	72735891	72735891	Human	1	name
405052725	CV2873364	single nucleotide variant	NM_033028.5(BBS4):c.1185T>C (p.Tyr395=)	Bardet-Biedl syndrome [RCV003522285]	likely benign	15	72735903	72735903	Human	1	name
405053844	CV2884802	single nucleotide variant	NM_033028.5(BBS4):c.1023C>T (p.Tyr341=)	Bardet-Biedl syndrome [RCV003522404]	likely benign	15	72731713	72731713	Human	1	name
405054491	CV2887557	single nucleotide variant	NM_033028.5(BBS4):c.1095C>A (p.Val365=)	Bardet-Biedl syndrome [RCV003522366]	likely benign	15	72735171	72735171	Human	1	name
404990870	CV2890037	single nucleotide variant	NM_033028.5(BBS4):c.1143G>A (p.Leu381=)	Bardet-Biedl syndrome [RCV003525045]	likely benign	15	72735861	72735861	Human	1	name
404989474	CV2892877	single nucleotide variant	NM_033028.5(BBS4):c.1209C>T (p.Ser403=)	Bardet-Biedl syndrome [RCV003524923]	likely benign	15	72735927	72735927	Human	1	name
405066712	CV2902666	single nucleotide variant	NM_033028.5(BBS4):c.1542A>G (p.Glu514=)	Bardet-Biedl syndrome [RCV003523547]	likely benign	15	72737569	72737569	Human	1	name
404986468	CV2910220	single nucleotide variant	NM_033028.5(BBS4):c.1146G>A (p.Leu382=)	Bardet-Biedl syndrome [RCV003524593]	likely benign	15	72735864	72735864	Human	1	name
404988108	CV2918086	single nucleotide variant	NM_033028.5(BBS4):c.1377G>A (p.Gln459=)	Bardet-Biedl syndrome [RCV003524756]	likely benign	15	72736890	72736890	Human	1	name
405059679	CV2923959	single nucleotide variant	NM_033028.5(BBS4):c.1320T>C (p.Val440=)	Bardet-Biedl syndrome [RCV003522836]	likely benign	15	72736833	72736833	Human	1	name
405058992	CV2932767	single nucleotide variant	NM_033028.5(BBS4):c.1086A>G (p.Ala362=)	Bardet-Biedl syndrome [RCV003522786]	likely benign	15	72735162	72735162	Human	1	name
405059005	CV2932810	single nucleotide variant	NM_033028.5(BBS4):c.255A>C (p.Glu85Asp)	Bardet-Biedl syndrome [RCV003522787]	uncertain significance	15	72715325	72715325	Human	1	name
405078763	CV2944240	single nucleotide variant	NM_033028.5(BBS4):c.1300C>T (p.Leu434=)	Bardet-Biedl syndrome [RCV003633795]	likely benign	15	72736813	72736813	Human	1	name
405079647	CV2946022	single nucleotide variant	NM_033028.5(BBS4):c.1317A>G (p.Pro439=)	Bardet-Biedl syndrome [RCV003633883]	likely benign	15	72736830	72736830	Human	1	name
405085941	CV2954888	single nucleotide variant	NM_033028.5(BBS4):c.1278T>A (p.Ala426=)	Bardet-Biedl syndrome [RCV003634437]	likely benign	15	72736791	72736791	Human	1	name
405081480	CV2960348	single nucleotide variant	NM_033028.5(BBS4):c.1134T>C (p.Tyr378=)	Bardet-Biedl syndrome [RCV003633932]	likely benign	15	72735852	72735852	Human	1	name
405091035	CV2982226	single nucleotide variant	NM_033028.5(BBS4):c.1536A>G (p.Thr512=)	Bardet-Biedl syndrome [RCV003634830]	likely benign	15	72737563	72737563	Human	1	name
405091843	CV2987227	deletion	NM_033028.5(BBS4):c.458del (p.Lys153fs)	Bardet-Biedl syndrome [RCV003634896]	pathogenic	15	72722845	72722845	Human	1	name
405092625	CV3001829	single nucleotide variant	NM_033028.5(BBS4):c.1296G>A (p.Glu432=)	Bardet-Biedl syndrome [RCV003634986]	likely benign	15	72736809	72736809	Human	1	name
405094449	CV3011585	single nucleotide variant	NM_033028.5(BBS4):c.1092A>T (p.Ala364=)	Bardet-Biedl syndrome [RCV003635161]	likely benign	15	72735168	72735168	Human	1	name
405096091	CV3016309	duplication	NM_033028.5(BBS4):c.656dup (p.Lys220fs)	Bardet-Biedl syndrome [RCV003635302]	pathogenic	15	72729628	72729629	Human	1	name
405137283	CV3028271	single nucleotide variant	NM_033028.5(BBS4):c.1287G>A (p.Gln429=)	Bardet-Biedl syndrome [RCV003635402]	likely benign	15	72736800	72736800	Human	1	name
405074007	CV3043499	single nucleotide variant	NM_033028.5(BBS4):c.1347C>G (p.Thr449=)	Bardet-Biedl syndrome [RCV003633320]	likely benign	15	72736860	72736860	Human	1	name
405074862	CV3044474	single nucleotide variant	NM_033028.5(BBS4):c.1263T>G (p.Ala421=)	Bardet-Biedl syndrome [RCV003633384]	likely benign	15	72736776	72736776	Human	1	name
405084702	CV3074471	single nucleotide variant	NM_033028.5(BBS4):c.1557A>G (p.Lys519=)	Bardet-Biedl syndrome [RCV003634329]	likely benign	15	72737584	72737584	Human	1	name
405085197	CV3077457	single nucleotide variant	NM_033028.5(BBS4):c.1554G>A (p.Glu518=)	Bardet-Biedl syndrome [RCV003634367]	likely benign	15	72737581	72737581	Human	1	name
405083971	CV3121916	single nucleotide variant	NM_033028.5(BBS4):c.1254G>C (p.Val418=)	Bardet-Biedl syndrome [RCV003810671]	likely benign	15	72736767	72736767	Human	1	name
402499425	CV3170421	single nucleotide variant	NM_033028.5(BBS4):c.1101G>T (p.Leu367=)	Bardet-Biedl syndrome [RCV003877793]	likely benign	15	72735177	72735177	Human	1	name
402472668	CV3172016	single nucleotide variant	NM_033028.5(BBS4):c.1224T>C (p.Asn408=)	BBS4-related disorder [RCV003966740]\|Bardet-Biedl syndrome [RCV003874619]	likely benign	15	72735942	72735942	Human	2	name , trait , alternate_id
405254187	CV3175023	single nucleotide variant	NM_033028.5(BBS4):c.1191G>A (p.Glu397=)	Bardet-Biedl syndrome [RCV003871475]	likely benign	15	72735909	72735909	Human	1	name
405274186	CV3195072	single nucleotide variant	NM_033028.5(BBS4):c.1044G>T (p.Leu348=)	BBS4-related disorder [RCV003902312]	likely benign	15	72735120	72735120	Human		name , trait , alternate_id
405266312	CV3201955	single nucleotide variant	NM_033028.5(BBS4):c.110G>A (p.Trp37Ter)	BBS4-related disorder [RCV003911439]	likely pathogenic	15	72709733	72709733	Human		name , trait , alternate_id
405272862	CV3220518	single nucleotide variant	NM_033028.5(BBS4):c.1053G>A (p.Leu351=)	BBS4-related disorder [RCV003972284]	likely benign	15	72735129	72735129	Human		name , trait , alternate_id
11619332	CV332989	single nucleotide variant	NM_033028.5(BBS4):c.1440G>A (p.Thr480=)	Bardet-Biedl syndrome 4 [RCV001094365]\|Bardet-Biedl syndrome [RCV000324428]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	15	72736953	72736953	Human	2	name
11618021	CV339856	single nucleotide variant	NM_033028.5(BBS4):c.1215C>G (p.Leu405=)	Bardet-Biedl syndrome 4 [RCV001094310]\|Bardet-Biedl syndrome [RCV000309670]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	15	72735933	72735933	Human	2	name
405870394	CV3399880	deletion	NM_033028.5(BBS4):c.412del (p.Ser138fs)	Bardet-Biedl syndrome 4 [RCV004574028]	likely pathogenic	15	72722800	72722800	Human	1	name
11621813	CV341271	single nucleotide variant	NM_033028.5(BBS4):c.275C>T (p.Thr92Ile)	BBS4-related disorder [RCV003391141]\|Bardet-Biedl syndrome 4 [RCV000352778]\|Bardet-Biedl syndrome [RCV005090467]	uncertain significance	15	72715345	72715345	Human	2	name , trait , alternate_id
408371410	CV3503853	single nucleotide variant	NM_033028.5(BBS4):c.211T>A (p.Tyr71Asn)	BBS4-related disorder [RCV004724685]	uncertain significance	15	72712298	72712298	Human		name , trait , alternate_id
408378148	CV3505068	single nucleotide variant	NM_033028.5(BBS4):c.225G>C (p.Leu75Phe)	BBS4-related disorder [RCV004727850]	uncertain significance	15	72715295	72715295	Human		name , trait , alternate_id
408377164	CV3507502	single nucleotide variant	NM_033028.5(BBS4):c.203A>G (p.Tyr68Cys)	BBS4-related disorder [RCV004750543]\|Bardet-Biedl syndrome 4 [RCV005006516]	uncertain significance	15	72712290	72712290	Human	1	name , trait , alternate_id
408375466	CV3509740	single nucleotide variant	NM_033028.5(BBS4):c.1497G>A (p.Leu499=)	BBS4-related disorder [RCV004748126]\|Bardet-Biedl syndrome 4 [RCV005003797]	uncertain significance	15	72737524	72737524	Human	1	name , trait , alternate_id
408376646	CV3515488	single nucleotide variant	NM_033028.5(BBS4):c.194T>G (p.Leu65Trp)	BBS4-related disorder [RCV004749362]	uncertain significance	15	72712281	72712281	Human		name , trait , alternate_id
408376698	CV3515549	single nucleotide variant	NM_033028.5(BBS4):c.142T>G (p.Tyr48Asp)	BBS4-related disorder [RCV004749373]	uncertain significance	15	72709765	72709765	Human		name , trait , alternate_id
596947471	CV3549027	deletion	NM_033028.5(BBS4):c.867del (p.Ile290fs)	not provided [RCV004811351]	pathogenic	15	72731556	72731556	Human		name
597730494	CV3704237	single nucleotide variant	NM_033028.5(BBS4):c.161T>C (p.Val54Ala)	Bardet-Biedl syndrome 4 [RCV005011894]	uncertain significance	15	72712248	72712248	Human	1	name
597632317	CV3704238	single nucleotide variant	NM_033028.5(BBS4):c.169G>A (p.Glu57Lys)	Bardet-Biedl syndrome 4 [RCV005003154]	uncertain significance	15	72712256	72712256	Human	1	name
597730515	CV3704240	single nucleotide variant	NM_033028.5(BBS4):c.233G>T (p.Arg78Leu)	Bardet-Biedl syndrome 4 [RCV005011896]	uncertain significance	15	72715303	72715303	Human	1	name
597632321	CV3704241	single nucleotide variant	NM_033028.5(BBS4):c.244A>G (p.Asn82Asp)	Bardet-Biedl syndrome 4 [RCV005003155]	uncertain significance	15	72715314	72715314	Human	1	name
597632338	CV3704251	deletion	NM_033028.5(BBS4):c.710del (p.Lys237fs)	Bardet-Biedl syndrome 4 [RCV005003159]	likely pathogenic	15	72729682	72729682	Human	1	name
597730615	CV3704254	deletion	NM_033028.5(BBS4):c.871del (p.Ser291fs)	Bardet-Biedl syndrome 4 [RCV005011905]	likely pathogenic	15	72731561	72731561	Human	1	name
597632367	CV3704264	single nucleotide variant	NM_033028.5(BBS4):c.1425A>T (p.Ala475=)	Bardet-Biedl syndrome 4 [RCV005003166]	uncertain significance	15	72736938	72736938	Human	1	name
597874335	CV3747448	single nucleotide variant	NM_033028.5(BBS4):c.1155G>A (p.Gln385=)	Bardet-Biedl syndrome [RCV005069132]	likely benign	15	72735873	72735873	Human	1	name
597931946	CV3780432	single nucleotide variant	NM_033028.5(BBS4):c.1413A>C (p.Ala471=)	Bardet-Biedl syndrome [RCV005116752]	likely benign	15	72736926	72736926	Human	1	name
597933030	CV3780855	single nucleotide variant	NM_033028.5(BBS4):c.1338G>A (p.Lys446=)	Bardet-Biedl syndrome [RCV005116967]	likely benign	15	72736851	72736851	Human	1	name
598261174	CV3927671	single nucleotide variant	NM_033028.5(BBS4):c.149C>G (p.Ala50Gly)	Inborn genetic diseases [RCV005300563]	uncertain significance	15	72709772	72709772	Human	1	name
12884789	CV400478	single nucleotide variant	NM_033028.5(BBS4):c.1179C>T (p.Ala393=)	BBS4-related disorder [RCV003900006]\|Bardet-Biedl syndrome 4 [RCV001117119]\|Bardet-Biedl syndrome [RCV000464128]	likely benign\|uncertain significance	15	72735897	72735897	Human	2	name , trait , alternate_id
12890929	CV400813	single nucleotide variant	NM_033028.5(BBS4):c.1140G>A (p.Val380=)	BBS4-related disorder [RCV003915326]\|Bardet-Biedl syndrome [RCV001087745]\|not provided [RCV000593840]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	15	72735858	72735858	Human	2	name , trait , alternate_id
13809676	CV567240	single nucleotide variant	NM_033028.5(BBS4):c.232C>T (p.Arg78Cys)	BBS4-related disorder [RCV003420220]\|Bardet-Biedl syndrome [RCV000687875]	uncertain significance	15	72715302	72715302	Human	2	name , trait , alternate_id
13809803	CV573506	deletion	NM_033028.5(BBS4):c.341del (p.Leu114fs)	BBS4-related disorder [RCV004748910]\|Bardet-Biedl syndrome 4 [RCV003460976]\|Bardet-Biedl syndrome [RCV000702302]	pathogenic\|likely pathogenic	15	72716783	72716783	Human	2	name , trait , alternate_id
14349733	CV576241	deletion	NM_033028.5(BBS4):c.657del (p.Lys220fs)	Bardet-Biedl syndrome [RCV000735931]	pathogenic	15	72729630	72729630	Human	1	name
15121131	CV693736	single nucleotide variant	NM_033028.5(BBS4):c.1182A>G (p.Gln394=)	Bardet-Biedl syndrome [RCV002539178]	likely benign	15	72735900	72735900	Human	1	name
38464020	CV801446	single nucleotide variant	NM_033028.5(BBS4):c.129T>G (p.Tyr43Ter)	Bardet-Biedl syndrome [RCV001199436]	pathogenic	15	72709752	72709752	Human	1	name
26905696	CV842658	single nucleotide variant	NM_033028.5(BBS4):c.134G>A (p.Arg45Gln)	BBS4-related disorder [RCV003396668]\|Bardet-Biedl syndrome 4 [RCV005012494]\|Bardet-Biedl syndrome [RCV001051434]	uncertain significance	15	72709757	72709757	Human	2	name , trait , alternate_id
26916486	CV842659	single nucleotide variant	NM_033028.5(BBS4):c.248T>G (p.Ile83Ser)	Bardet-Biedl syndrome [RCV001056381]	uncertain significance	15	72715318	72715318	Human	1	name
26895552	CV842660	single nucleotide variant	NM_033028.5(BBS4):c.289A>C (p.Ser97Arg)	BBS4-related disorder [RCV004749603]\|Bardet-Biedl syndrome [RCV001069672]\|not provided [RCV001573156]	uncertain significance	15	72715359	72715359	Human	2	name , trait , alternate_id
28875001	CV874077	single nucleotide variant	NM_033028.5(BBS4):c.1029C>T (p.Leu343=)	BBS4-related disorder [RCV003906215]\|Bardet-Biedl syndrome 4 [RCV001115699]\|Bardet-Biedl syndrome [RCV001446932]	likely benign\|uncertain significance	15	72731719	72731719	Human	2	name , trait , alternate_id
28879118	CV874078	single nucleotide variant	NM_033028.5(BBS4):c.1083C>T (p.Tyr361=)	BBS4-related disorder [RCV003906220]\|Bardet-Biedl syndrome 4 [RCV001117118]\|Bardet-Biedl syndrome [RCV001490458]	likely benign\|uncertain significance	15	72735159	72735159	Human	2	name , trait , alternate_id
28884506	CV874079	single nucleotide variant	NM_033028.5(BBS4):c.1512G>A (p.Ala504=)	Bardet-Biedl syndrome 4 [RCV001118761]\|Bardet-Biedl syndrome [RCV003769168]	likely benign\|uncertain significance	15	72737539	72737539	Human	2	name
38459351	CV937052	single nucleotide variant	NM_033028.5(BBS4):c.1107G>A (p.Lys369=)	BBS4-related disorder [RCV004749622]\|Bardet-Biedl syndrome [RCV001211622]	uncertain significance	15	72735825	72735825	Human	2	name , trait , alternate_id
126735879	CV1011596	single nucleotide variant	NM_033028.5(BBS4):c.439T>A (p.Tyr147Asn)	Bardet-Biedl syndrome 4 [RCV001330197]\|Bardet-Biedl syndrome [RCV001322547]\|not specified [RCV003155393]	uncertain significance	15	72722827	72722827	Human	2	name
126742245	CV1011597	single nucleotide variant	NM_033028.5(BBS4):c.975T>A (p.His325Gln)	BBS4-related disorder [RCV004749654]\|Bardet-Biedl syndrome [RCV001314633]\|not provided [RCV001751603]	uncertain significance	15	72731665	72731665	Human	2	name , trait , alternate_id
126755835	CV1011601	deletion	NM_033028.5(BBS4):c.1493del (p.Pro498fs)	Bardet-Biedl syndrome 4 [RCV002493714]\|Bardet-Biedl syndrome [RCV001327833]	uncertain significance	15	72737519	72737519	Human	2	name
126914630	CV1038353	single nucleotide variant	NM_033028.5(BBS4):c.805A>T (p.Ser269Cys)	not provided [RCV001358416]	uncertain significance	15	72731398	72731398	Human		name
126915097	CV1049073	single nucleotide variant	NM_033028.5(BBS4):c.428T>A (p.Val143Asp)	Bardet-Biedl syndrome 4 [RCV002476692]\|Bardet-Biedl syndrome [RCV001370716]	uncertain significance	15	72722816	72722816	Human	2	name
126919425	CV1049074	single nucleotide variant	NM_033028.5(BBS4):c.437T>C (p.Ile146Thr)	BBS4-related disorder [RCV004749671]\|Bardet-Biedl syndrome 4 [RCV002493900]\|Bardet-Biedl syndrome [RCV001373221]\|Inborn genetic diseases [RCV004968150]\|not provided [RCV004692669]	uncertain significance	15	72722825	72722825	Human	3	name , trait , alternate_id
127262237	CV1063420	single nucleotide variant	NM_033028.5(BBS4):c.952C>T (p.Gln318Ter)	Bardet-Biedl syndrome [RCV001380673]	pathogenic	15	72731642	72731642	Human	1	name
151351998	CV1322199	duplication	NM_033028.5(BBS4):c.1440dup (p.Leu481fs)	BBS4-related disorder [RCV003911020]\|Bardet-Biedl syndrome 4 [RCV005006065]\|Bardet-Biedl syndrome [RCV001806822]\|not specified [RCV005237997]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	15	72736952	72736953	Human	2	name , trait , alternate_id
151852075	CV1346166	single nucleotide variant	NM_033028.5(BBS4):c.317A>G (p.Gln106Arg)	Bardet-Biedl syndrome 4 [RCV005006276]\|Bardet-Biedl syndrome [RCV001958129]	uncertain significance	15	72715387	72715387	Human	2	name
151810066	CV1348386	single nucleotide variant	NM_033028.5(BBS4):c.403T>A (p.Trp135Arg)	Bardet-Biedl syndrome [RCV001878178]	uncertain significance	15	72716848	72716848	Human	1	name
151889842	CV1350356	single nucleotide variant	NM_033028.5(BBS4):c.562A>G (p.Ile188Val)	Bardet-Biedl syndrome [RCV002038682]	uncertain significance	15	72724630	72724630	Human	1	name
151742721	CV1353148	deletion	NM_033028.5(BBS4):c.1294del (p.Glu432fs)	Bardet-Biedl syndrome [RCV001893429]	pathogenic\|likely pathogenic\|uncertain significance	15	72736804	72736804	Human	1	name
151750694	CV1359128	single nucleotide variant	NM_033028.5(BBS4):c.349C>T (p.His117Tyr)	Bardet-Biedl syndrome [RCV001969160]	uncertain significance	15	72716794	72716794	Human	1	name
151774852	CV1362049	single nucleotide variant	NM_033028.5(BBS4):c.884G>A (p.Arg295Gln)	Bardet-Biedl syndrome [RCV001950513]	uncertain significance	15	72731574	72731574	Human	1	name
151747590	CV1362352	single nucleotide variant	NM_033028.5(BBS4):c.956A>G (p.Gln319Arg)	Bardet-Biedl syndrome [RCV001968820]	uncertain significance	15	72731646	72731646	Human	1	name
151755907	CV1387960	single nucleotide variant	NM_033028.5(BBS4):c.548A>G (p.Asp183Gly)	Bardet-Biedl syndrome [RCV001969661]\|not provided [RCV003456510]	uncertain significance	15	72724616	72724616	Human	1	name
151727961	CV1388540	single nucleotide variant	NM_033028.5(BBS4):c.852G>T (p.Lys284Asn)	Bardet-Biedl syndrome [RCV001966817]	uncertain significance	15	72731445	72731445	Human	1	name
151771166	CV1404370	single nucleotide variant	NM_033028.5(BBS4):c.631C>T (p.Leu211Phe)	BBS4-related disorder [RCV003968683]\|Bardet-Biedl syndrome [RCV002045256]	uncertain significance	15	72727983	72727983	Human	2	name , trait , alternate_id
151734562	CV1409681	single nucleotide variant	NM_033028.5(BBS4):c.760G>A (p.Val254Ile)	Bardet-Biedl syndrome 4 [RCV002490149]\|Bardet-Biedl syndrome [RCV001911233]	uncertain significance	15	72731353	72731353	Human	2	name
151773336	CV1424011	single nucleotide variant	NM_033028.5(BBS4):c.863C>T (p.Ala288Val)	Bardet-Biedl syndrome [RCV002025574]	uncertain significance	15	72731456	72731456	Human	1	name
151804452	CV1424479	single nucleotide variant	NM_033028.5(BBS4):c.988G>A (p.Ala330Thr)	Bardet-Biedl syndrome [RCV001932608]	uncertain significance	15	72731678	72731678	Human	1	name
151849746	CV1427689	single nucleotide variant	NM_033028.5(BBS4):c.623T>A (p.Leu208Ter)	Bardet-Biedl syndrome [RCV001922611]	pathogenic	15	72727975	72727975	Human	1	name
151744984	CV1428087	single nucleotide variant	NM_033028.5(BBS4):c.740A>G (p.Gln247Arg)	Bardet-Biedl syndrome [RCV001926857]\|Inborn genetic diseases [RCV005308601]	uncertain significance	15	72731333	72731333	Human	2	name
151747582	CV1432429	single nucleotide variant	NM_033028.5(BBS4):c.999C>G (p.Phe333Leu)	Bardet-Biedl syndrome [RCV001985915]	uncertain significance	15	72731689	72731689	Human	1	name
151885739	CV1451882	single nucleotide variant	NM_033028.5(BBS4):c.706T>C (p.Tyr236His)	Bardet-Biedl syndrome [RCV002000545]\|not specified [RCV003323966]	uncertain significance	15	72729679	72729679	Human	1	name
151805660	CV1453311	single nucleotide variant	NM_033028.5(BBS4):c.683C>T (p.Ala228Val)	Bardet-Biedl syndrome [RCV001877776]	uncertain significance	15	72729656	72729656	Human	1	name
151876222	CV1458589	single nucleotide variant	NM_033028.5(BBS4):c.701C>A (p.Thr234Asn)	Bardet-Biedl syndrome [RCV001998968]	uncertain significance	15	72729674	72729674	Human	1	name
151770552	CV1483174	single nucleotide variant	NM_033028.5(BBS4):c.776A>T (p.Tyr259Phe)	Bardet-Biedl syndrome [RCV001914938]	uncertain significance	15	72731369	72731369	Human	1	name
151747331	CV1485330	single nucleotide variant	NM_033028.5(BBS4):c.530T>G (p.Ile177Ser)	Bardet-Biedl syndrome [RCV002006462]	uncertain significance	15	72724598	72724598	Human	1	name
151739095	CV1490347	single nucleotide variant	NM_033028.5(BBS4):c.595C>T (p.Pro199Ser)	Bardet-Biedl syndrome [RCV001985063]	uncertain significance	15	72727947	72727947	Human	1	name
151740606	CV1492460	single nucleotide variant	NM_033028.5(BBS4):c.799C>G (p.Pro267Ala)	BBS4-related disorder [RCV003394291]\|Bardet-Biedl syndrome 4 [RCV002503369]\|Bardet-Biedl syndrome [RCV002042192]\|Inborn genetic diseases [RCV004038881]	uncertain significance	15	72731392	72731392	Human	3	name , trait , alternate_id
151721309	CV1504684	single nucleotide variant	NM_033028.5(BBS4):c.619A>G (p.Thr207Ala)	Bardet-Biedl syndrome [RCV001983119]	uncertain significance	15	72727971	72727971	Human	1	name
151825999	CV1507231	single nucleotide variant	NM_033028.5(BBS4):c.593C>T (p.Ser198Leu)	BBS4-related disorder [RCV004749796]\|Bardet-Biedl syndrome [RCV001955219]	uncertain significance	15	72727945	72727945	Human	2	name , trait , alternate_id
151735568	CV1508863	single nucleotide variant	NM_033028.5(BBS4):c.991A>G (p.Ile331Val)	Bardet-Biedl syndrome [RCV002021770]	uncertain significance	15	72731681	72731681	Human	1	name
9692710	CV177414	single nucleotide variant	NM_033028.5(BBS4):c.986C>T (p.Ala329Val)	BBS4-related disorder [RCV004748603]\|Bardet-Biedl syndrome 4 [RCV002483324]\|Bardet-Biedl syndrome [RCV001850086]\|not provided [RCV000152840]	uncertain significance	15	72731676	72731676	Human	2	name , trait , alternate_id
155747077	CV1778236	single nucleotide variant	NM_033028.5(BBS4):c.566A>T (p.Glu189Val)	Bardet-Biedl syndrome [RCV002303585]	uncertain significance	15	72724634	72724634	Human	1	name
156397026	CV1870976	single nucleotide variant	NM_033028.5(BBS4):c.502G>T (p.Asp168Tyr)	Bardet-Biedl syndrome [RCV003068727]	uncertain significance	15	72724570	72724570	Human	1	name
156258396	CV1875568	single nucleotide variant	NM_033028.5(BBS4):c.629T>C (p.Leu210Ser)	BBS4-related disorder [RCV004750253]\|Bardet-Biedl syndrome 4 [RCV005010915]\|Bardet-Biedl syndrome [RCV003060273]	uncertain significance	15	72727981	72727981	Human	2	name , trait , alternate_id
156218977	CV1879106	single nucleotide variant	NM_033028.5(BBS4):c.797T>G (p.Val266Gly)	BBS4-related disorder [RCV004750255]\|Bardet-Biedl syndrome [RCV003058848]	uncertain significance	15	72731390	72731390	Human	2	name , trait , alternate_id
156404151	CV1886572	single nucleotide variant	NM_033028.5(BBS4):c.443T>A (p.Leu148Gln)	BBS4-related disorder [RCV004750264]\|Bardet-Biedl syndrome [RCV003069640]\|Inborn genetic diseases [RCV004071859]	uncertain significance	15	72722831	72722831	Human	3	name , trait , alternate_id
156043806	CV1887320	single nucleotide variant	NM_033028.5(BBS4):c.327A>T (p.Arg109Ser)	Bardet-Biedl syndrome [RCV003078623]	uncertain significance	15	72715397	72715397	Human	1	name
156358517	CV1914183	single nucleotide variant	NM_033028.5(BBS4):c.385A>G (p.Lys129Glu)	Bardet-Biedl syndrome 4 [RCV005002964]\|Bardet-Biedl syndrome [RCV002632509]	uncertain significance	15	72716830	72716830	Human	2	name
156374612	CV1933039	single nucleotide variant	NM_033028.5(BBS4):c.775T>A (p.Tyr259Asn)	BBS4-related disorder [RCV004750299]\|Bardet-Biedl syndrome 4 [RCV005011074]\|Bardet-Biedl syndrome [RCV002633719]	uncertain significance	15	72731368	72731368	Human	2	name , trait , alternate_id
156321550	CV1992007	single nucleotide variant	NM_033028.5(BBS4):c.947C>T (p.Thr316Ile)	Bardet-Biedl syndrome [RCV002649278]	uncertain significance	15	72731637	72731637	Human	1	name
155907356	CV2027693	single nucleotide variant	NM_033028.5(BBS4):c.596C>T (p.Pro199Leu)	Bardet-Biedl syndrome [RCV002726554]	uncertain significance	15	72727948	72727948	Human	1	name
155941332	CV2038245	single nucleotide variant	NM_033028.5(BBS4):c.434A>G (p.Tyr145Cys)	Bardet-Biedl syndrome [RCV002775213]\|Inborn genetic diseases [RCV004966084]	uncertain significance	15	72722822	72722822	Human	2	name
156138230	CV2040620	single nucleotide variant	NM_033028.5(BBS4):c.991A>T (p.Ile331Phe)	Bardet-Biedl syndrome [RCV002786427]	uncertain significance	15	72731681	72731681	Human	1	name
156010814	CV2045631	single nucleotide variant	NM_033028.5(BBS4):c.821A>G (p.Asn274Ser)	BBS4-related disorder [RCV003395515]\|Bardet-Biedl syndrome 4 [RCV005002881]\|Bardet-Biedl syndrome [RCV002780131]	uncertain significance	15	72731414	72731414	Human	2	name , trait , alternate_id
156161388	CV2056409	single nucleotide variant	NM_033028.5(BBS4):c.998T>A (p.Phe333Tyr)	Bardet-Biedl syndrome [RCV002801643]	uncertain significance	15	72731688	72731688	Human	1	name
156381071	CV2060808	single nucleotide variant	NM_033028.5(BBS4):c.863C>A (p.Ala288Glu)	BBS4-related disorder [RCV004750211]\|Bardet-Biedl syndrome [RCV002815090]	uncertain significance	15	72731456	72731456	Human	2	name , trait , alternate_id
155997967	CV2106586	single nucleotide variant	NM_033028.5(BBS4):c.640C>T (p.Gln214Ter)	Bardet-Biedl syndrome [RCV002947648]	pathogenic	15	72727992	72727992	Human	1	name
156084004	CV2144705	single nucleotide variant	NM_033028.5(BBS4):c.961G>C (p.Ala321Pro)	Bardet-Biedl syndrome [RCV003020446]	uncertain significance	15	72731651	72731651	Human	1	name
156121521	CV2147199	duplication	NM_033028.5(BBS4):c.1294dup (p.Glu432fs)	BBS4-related disorder [RCV004750249]\|Bardet-Biedl syndrome 4 [RCV003459700]\|Bardet-Biedl syndrome [RCV003021815]	pathogenic\|likely pathogenic	15	72736803	72736804	Human	2	name , trait , alternate_id
156046721	CV2154013	single nucleotide variant	NM_033028.5(BBS4):c.770C>G (p.Thr257Ser)	Bardet-Biedl syndrome [RCV003019258]	uncertain significance	15	72731363	72731363	Human	1	name
156034056	CV2256594	single nucleotide variant	NM_033028.5(BBS4):c.871A>C (p.Ser291Arg)	Inborn genetic diseases [RCV002821266]	uncertain significance	15	72731561	72731561	Human	1	name
156178916	CV2355968	single nucleotide variant	NM_033028.5(BBS4):c.367G>A (p.Val123Ile)	BBS4-related disorder [RCV004750336]\|Inborn genetic diseases [RCV002983923]	uncertain significance	15	72716812	72716812	Human	2	name , trait , alternate_id
243064897	CV2409457	single nucleotide variant	NM_033028.5(BBS4):c.470A>G (p.Gln157Arg)	Bardet-Biedl syndrome 4 [RCV003143747]	uncertain significance	15	72724538	72724538	Human	1	name
8598176	CV24184	single nucleotide variant	NM_033028.5(BBS4):c.884G>C (p.Arg295Pro)	Bardet-Biedl syndrome 4 [RCV000009716]\|Bardet-Biedl syndrome [RCV001002881]	pathogenic	15	72731574	72731574	Human	2	name
11544715	CV255352	single nucleotide variant	NM_033028.5(BBS4):c.748G>A (p.Gly250Arg)	Bardet-Biedl syndrome [RCV000537331]\|not specified [RCV000244160]	benign	15	72731341	72731341	Human	1	name
11558328	CV260919	deletion	NM_033028.5(BBS4):c.1226del (p.Ser409fs)	Bardet-Biedl syndrome 4 [RCV002500963]\|Bardet-Biedl syndrome [RCV000256448]	pathogenic	15	72735944	72735944	Human	2	name
401886179	CV2774594	single nucleotide variant	NM_033028.5(BBS4):c.519G>T (p.Met173Ile)	Inborn genetic diseases [RCV003351795]	uncertain significance	15	72724587	72724587	Human	1	name
401890736	CV2778321	single nucleotide variant	NM_033028.5(BBS4):c.439T>C (p.Tyr147His)	Bardet-Biedl syndrome 4 [RCV005012903]\|Inborn genetic diseases [RCV003354549]	uncertain significance	15	72722827	72722827	Human	2	name
401901779	CV2804701	single nucleotide variant	NM_033028.5(BBS4):c.464A>C (p.Gln155Pro)	BBS4-related disorder [RCV003393214]\|Retinal dystrophy [RCV004818338]	uncertain significance	15	72724532	72724532	Human	3	name , trait , alternate_id
401946400	CV2833761	single nucleotide variant	NM_033028.5(BBS4):c.405G>A (p.Trp135Ter)	BBS4-related disorder [RCV004750380]\|Bardet-Biedl syndrome 4 [RCV003465071]	pathogenic\|likely pathogenic	15	72716850	72716850	Human	1	name , trait , alternate_id
401946403	CV2833762	deletion	NM_033028.5(BBS4):c.1398del (p.Ala467fs)	Bardet-Biedl syndrome 4 [RCV003465072]	likely pathogenic	15	72736910	72736910	Human	1	name
401946406	CV2833763	single nucleotide variant	NM_033028.5(BBS4):c.406G>T (p.Glu136Ter)	Bardet-Biedl syndrome 4 [RCV003465073]\|Bardet-Biedl syndrome [RCV003633722]	pathogenic\|likely pathogenic	15	72722794	72722794	Human	2	name
401946421	CV2833769	duplication	NM_033028.5(BBS4):c.1389dup (p.Ser464fs)	Bardet-Biedl syndrome 4 [RCV003465079]\|Bardet-Biedl syndrome [RCV003779144]	pathogenic\|likely pathogenic	15	72736901	72736902	Human	2	name
401946466	CV2833786	deletion	NM_033028.5(BBS4):c.1106del (p.Lys369fs)	Bardet-Biedl syndrome 4 [RCV003465096]	likely pathogenic	15	72735181	72735181	Human	1	name
405072604	CV2855654	single nucleotide variant	NM_033028.5(BBS4):c.346A>T (p.Lys116Ter)	Bardet-Biedl syndrome [RCV003523956]	pathogenic	15	72716791	72716791	Human	1	name
404987117	CV2917051	single nucleotide variant	NM_033028.5(BBS4):c.435C>A (p.Tyr145Ter)	Bardet-Biedl syndrome [RCV003524571]	pathogenic	15	72722823	72722823	Human	1	name
405092520	CV2995168	duplication	NM_033028.5(BBS4):c.1203dup (p.Val402fs)	Bardet-Biedl syndrome [RCV003634975]	pathogenic	15	72735918	72735919	Human	1	name
405095709	CV3009774	single nucleotide variant	NM_033028.5(BBS4):c.617C>A (p.Thr206Lys)	BBS4-related disorder [RCV004723423]\|Bardet-Biedl syndrome [RCV003635290]	uncertain significance	15	72727969	72727969	Human	2	name , trait , alternate_id
407451717	CV3081124	single nucleotide variant	NM_033028.5(BBS4):c.967G>C (p.Ala323Pro)	Bardet-Biedl syndrome 4 [RCV004691640]	uncertain significance	15	72731657	72731657	Human	1	name
405705819	CV3301632	single nucleotide variant	NM_033028.5(BBS4):c.481G>A (p.Ala161Thr)	Inborn genetic diseases [RCV004426059]	uncertain significance	15	72724549	72724549	Human	1	name
11617853	CV339855	single nucleotide variant	NM_033028.5(BBS4):c.752A>G (p.Asp251Gly)	BBS4-related disorder [RCV004748727]\|Bardet-Biedl syndrome 4 [RCV001094267]\|Bardet-Biedl syndrome [RCV000308526]\|not provided [RCV004760477]	uncertain significance	15	72731345	72731345	Human	2	name , trait , alternate_id
405870371	CV3399871	duplication	NM_033028.5(BBS4):c.1400dup (p.Leu468fs)	Bardet-Biedl syndrome 4 [RCV004574019]	likely pathogenic	15	72736912	72736913	Human	1	name
405870376	CV3399873	duplication	NM_033028.5(BBS4):c.1234dup (p.Glu412fs)	Bardet-Biedl syndrome 4 [RCV004574021]	likely pathogenic	15	72735950	72735951	Human	1	name
405870379	CV3399874	deletion	NM_033028.5(BBS4):c.1124del (p.Asn375fs)	Bardet-Biedl syndrome 4 [RCV004574022]	likely pathogenic	15	72735840	72735840	Human	1	name
407495116	CV3417570	single nucleotide variant	NM_033028.5(BBS4):c.436A>G (p.Ile146Val)	Bardet-Biedl syndrome 4 [RCV005003774]\|Inborn genetic diseases [RCV004605749]	uncertain significance	15	72722824	72722824	Human	2	name
407495120	CV3417571	single nucleotide variant	NM_033028.5(BBS4):c.834G>C (p.Met278Ile)	Inborn genetic diseases [RCV004605750]	uncertain significance	15	72731427	72731427	Human	1	name
407500306	CV3417572	single nucleotide variant	NM_033028.5(BBS4):c.967G>A (p.Ala323Thr)	Inborn genetic diseases [RCV004606993]	uncertain significance	15	72731657	72731657	Human	1	name
407495122	CV3417573	single nucleotide variant	NM_033028.5(BBS4):c.689C>T (p.Thr230Ile)	BBS4-related disorder [RCV004750480]\|Inborn genetic diseases [RCV004605751]	uncertain significance	15	72729662	72729662	Human	2	name , trait , alternate_id
407495130	CV3417575	single nucleotide variant	NM_033028.5(BBS4):c.931G>A (p.Gly311Ser)	BBS4-related disorder [RCV004750481]\|Inborn genetic diseases [RCV004605753]	uncertain significance	15	72731621	72731621	Human	2	name , trait , alternate_id
408382502	CV3503372	single nucleotide variant	NM_033028.5(BBS4):c.791G>A (p.Cys264Tyr)	BBS4-related disorder [RCV004729939]	uncertain significance	15	72731384	72731384	Human		name , trait , alternate_id
408378864	CV3504227	single nucleotide variant	NM_033028.5(BBS4):c.692A>G (p.Tyr231Cys)	BBS4-related disorder [RCV004728156]	uncertain significance	15	72729665	72729665	Human		name , trait , alternate_id
408371064	CV3504750	single nucleotide variant	NM_033028.5(BBS4):c.995A>G (p.Asn332Ser)	BBS4-related disorder [RCV004724432]	uncertain significance	15	72731685	72731685	Human		name , trait , alternate_id
408371171	CV3504909	single nucleotide variant	NM_033028.5(BBS4):c.784G>C (p.Val262Leu)	BBS4-related disorder [RCV004724529]	uncertain significance	15	72731377	72731377	Human		name , trait , alternate_id
408371181	CV3504923	single nucleotide variant	NM_033028.5(BBS4):c.438A>G (p.Ile146Met)	BBS4-related disorder [RCV004724540]	uncertain significance	15	72722826	72722826	Human		name , trait , alternate_id
408375907	CV3506688	single nucleotide variant	NM_033028.5(BBS4):c.787G>A (p.Ala263Thr)	BBS4-related disorder [RCV004726450]	uncertain significance	15	72731380	72731380	Human		name , trait , alternate_id
408377117	CV3507238	single nucleotide variant	NM_033028.5(BBS4):c.646G>A (p.Gly216Ser)	BBS4-related disorder [RCV004750505]\|Bardet-Biedl syndrome 4 [RCV005003793]	uncertain significance	15	72729619	72729619	Human	1	name , trait , alternate_id
408377225	CV3507932	single nucleotide variant	NM_033028.5(BBS4):c.917T>A (p.Ile306Asn)	BBS4-related disorder [RCV004750597]	uncertain significance	15	72731607	72731607	Human		name , trait , alternate_id
408377328	CV3508565	single nucleotide variant	NM_033028.5(BBS4):c.326G>C (p.Arg109Thr)	BBS4-related disorder [RCV004750680]	uncertain significance	15	72715396	72715396	Human		name , trait , alternate_id
408375587	CV3509887	single nucleotide variant	NM_033028.5(BBS4):c.784G>A (p.Val262Met)	BBS4-related disorder [RCV004748147]	uncertain significance	15	72731377	72731377	Human		name , trait , alternate_id
408376489	CV3513913	single nucleotide variant	NM_033028.5(BBS4):c.299G>A (p.Ser100Asn)	BBS4-related disorder [RCV004749154]	uncertain significance	15	72715369	72715369	Human		name , trait , alternate_id
408376996	CV3517440	single nucleotide variant	NM_033028.5(BBS4):c.983G>A (p.Ser328Asn)	BBS4-related disorder [RCV004750125]\|Bardet-Biedl syndrome 4 [RCV005006543]	uncertain significance	15	72731673	72731673	Human	1	name , trait , alternate_id
408377036	CV3517857	single nucleotide variant	NM_033028.5(BBS4):c.833T>A (p.Met278Lys)	BBS4-related disorder [RCV004750181]	uncertain significance	15	72731426	72731426	Human		name , trait , alternate_id
597626619	CV3642960	single nucleotide variant	NM_033028.5(BBS4):c.949A>G (p.Met317Val)	Inborn genetic diseases [RCV004965164]	uncertain significance	15	72731639	72731639	Human	1	name
597730541	CV3704242	single nucleotide variant	NM_033028.5(BBS4):c.350A>G (p.His117Arg)	Bardet-Biedl syndrome 4 [RCV005011898]	uncertain significance	15	72716795	72716795	Human	1	name
597730551	CV3704243	single nucleotide variant	NM_033028.5(BBS4):c.382G>A (p.Ala128Thr)	Bardet-Biedl syndrome 4 [RCV005011899]	uncertain significance	15	72716827	72716827	Human	1	name
597632325	CV3704244	single nucleotide variant	NM_033028.5(BBS4):c.422T>C (p.Leu141Pro)	Bardet-Biedl syndrome 4 [RCV005003156]	uncertain significance	15	72722810	72722810	Human	1	name
597730563	CV3704245	single nucleotide variant	NM_033028.5(BBS4):c.468C>G (p.Asp156Glu)	Bardet-Biedl syndrome 4 [RCV005011900]	uncertain significance	15	72724536	72724536	Human	1	name
597730594	CV3704247	single nucleotide variant	NM_033028.5(BBS4):c.499C>T (p.His167Tyr)	Bardet-Biedl syndrome 4 [RCV005011903]	uncertain significance	15	72724567	72724567	Human	1	name
597632329	CV3704249	single nucleotide variant	NM_033028.5(BBS4):c.693T>G (p.Tyr231Ter)	Bardet-Biedl syndrome 4 [RCV005003157]	likely pathogenic	15	72729666	72729666	Human	1	name
597730605	CV3704252	single nucleotide variant	NM_033028.5(BBS4):c.826A>G (p.Ile276Val)	Bardet-Biedl syndrome 4 [RCV005011904]	uncertain significance	15	72731419	72731419	Human	1	name
597632346	CV3704255	single nucleotide variant	NM_033028.5(BBS4):c.986C>G (p.Ala329Gly)	Bardet-Biedl syndrome 4 [RCV005003161]	uncertain significance	15	72731676	72731676	Human	1	name
597730688	CV3704270	deletion	NM_033028.5(BBS4):c.1534del (p.Thr512fs)	Bardet-Biedl syndrome 4 [RCV005011912]	likely pathogenic	15	72737559	72737559	Human	1	name
597907576	CV3773234	deletion	NM_033028.5(BBS4):c.1366del (p.Ala456fs)	Bardet-Biedl syndrome [RCV005113299]	pathogenic	15	72736879	72736879	Human	1	name
597889873	CV3788157	single nucleotide variant	NM_033028.5(BBS4):c.912G>A (p.Trp304Ter)	Bardet-Biedl syndrome [RCV005125515]	pathogenic	15	72731602	72731602	Human	1	name
597970897	CV3802326	single nucleotide variant	NM_033028.5(BBS4):c.827T>C (p.Ile276Thr)	Bardet-Biedl syndrome [RCV005141923]	uncertain significance	15	72731420	72731420	Human	1	name
12854246	CV384491	single nucleotide variant	NM_033028.5(BBS4):c.883C>T (p.Arg295Ter)	BBS4-related disorder [RCV004748762]\|Bardet-Biedl syndrome 4 [RCV000449577]\|Bardet-Biedl syndrome [RCV001199438]\|not provided [RCV000995387]	pathogenic\|likely pathogenic	15	72731573	72731573	Human	2	name , trait , alternate_id
598261140	CV3927662	single nucleotide variant	NM_033028.5(BBS4):c.356C>T (p.Ala119Val)	Inborn genetic diseases [RCV005300557]	uncertain significance	15	72716801	72716801	Human	1	name
598261226	CV3927688	single nucleotide variant	NM_033028.5(BBS4):c.785T>A (p.Val262Glu)	Inborn genetic diseases [RCV005300573]	uncertain significance	15	72731378	72731378	Human	1	name
12887937	CV400329	single nucleotide variant	NM_033028.5(BBS4):c.513T>A (p.Tyr171Ter)	Bardet-Biedl syndrome [RCV000469982]	pathogenic	15	72724581	72724581	Human	1	name
12888934	CV400330	single nucleotide variant	NM_033028.5(BBS4):c.638T>A (p.Leu213Ter)	Bardet-Biedl syndrome 4 [RCV003463973]\|Bardet-Biedl syndrome [RCV000471858]	pathogenic\|likely pathogenic	15	72727990	72727990	Human	2	name
598190806	CV4008882	duplication	NM_033028.5(BBS4):c.1484dup (p.Ser496fs)	Bardet-Biedl syndrome 4 [RCV005396383]	uncertain significance	15	72737506	72737507	Human	1	name
12883847	CV401166	single nucleotide variant	NM_033028.5(BBS4):c.830G>T (p.Gly277Val)	Bardet-Biedl syndrome [RCV000462368]	likely pathogenic\|uncertain significance	15	72731423	72731423	Human	1	name
617148326	CV4018690	single nucleotide variant	NM_033028.5(BBS4):c.641A>G (p.Gln214Arg)	Bardet-Biedl syndrome 4 [RCV005420481]	uncertain significance	15	72727993	72727993	Human	1	name
13462883	CV439258	single nucleotide variant	NM_033028.5(BBS4):c.514A>G (p.Ile172Val)	BBS4-related disorder [RCV003915439]\|Bardet-Biedl syndrome 4 [RCV005010464]\|Bardet-Biedl syndrome [RCV001245807]\|not provided [RCV000515003]	likely benign\|uncertain significance	15	72724582	72724582	Human	2	name , trait , alternate_id
13606527	CV529619	single nucleotide variant	NM_033028.5(BBS4):c.960T>A (p.Tyr320Ter)	BBS4-related disorder [RCV003420115]\|Bardet-Biedl syndrome 4 [RCV003459527]\|Bardet-Biedl syndrome [RCV000638368]	pathogenic\|likely pathogenic	15	72731650	72731650	Human	2	name , trait , alternate_id
13812938	CV567242	single nucleotide variant	NM_033028.5(BBS4):c.469C>G (p.Gln157Glu)	Bardet-Biedl syndrome [RCV000689695]	uncertain significance	15	72724537	72724537	Human	1	name
13831616	CV582114	deletion	NM_033028.5(BBS4):c.1236del (p.Glu412fs)	Bardet-Biedl syndrome 4 [RCV005004390]\|Bardet-Biedl syndrome [RCV005092127]\|not provided [RCV000722296]	pathogenic\|likely pathogenic\|uncertain significance	15	72735953	72735953	Human	2	name
14735535	CV643521	single nucleotide variant	NM_033028.5(BBS4):c.626G>A (p.Gly209Glu)	BBS4-related disorder [RCV004749472]\|Bardet-Biedl syndrome [RCV000819631]	pathogenic\|likely pathogenic\|uncertain significance	15	72727978	72727978	Human	2	name , trait , alternate_id
21068968	CV788890	single nucleotide variant	NM_033028.5(BBS4):c.791G>T (p.Cys264Phe)	Bardet-Biedl syndrome 4 [RCV000985187]	likely pathogenic	15	72731384	72731384	Human	1	name
21074650	CV797193	single nucleotide variant	NM_033028.5(BBS4):c.322G>A (p.Ala108Thr)	not provided [RCV000995386]	likely pathogenic	15	72715392	72715392	Human		name
21404857	CV800594	single nucleotide variant	NM_033028.5(BBS4):c.424G>A (p.Gly142Arg)	Bardet-Biedl syndrome [RCV001002880]	likely pathogenic	15	72722812	72722812	Human	1	name
26902479	CV842661	single nucleotide variant	NM_033028.5(BBS4):c.337C>T (p.Leu113Phe)	BBS4-related disorder [RCV003928682]\|Bardet-Biedl syndrome [RCV001050228]\|not provided [RCV001759981]	uncertain significance	15	72716782	72716782	Human	2	name , trait , alternate_id
26900226	CV842662	single nucleotide variant	NM_033028.5(BBS4):c.463C>A (p.Gln155Lys)	Bardet-Biedl syndrome [RCV001035251]	uncertain significance	15	72724531	72724531	Human	1	name
26913544	CV842663	single nucleotide variant	NM_033028.5(BBS4):c.502G>A (p.Asp168Asn)	Bardet-Biedl syndrome [RCV001054307]	uncertain significance	15	72724570	72724570	Human	1	name
28874995	CV874075	single nucleotide variant	NM_033028.5(BBS4):c.329C>G (p.Ser110Cys)	BBS4-related disorder [RCV003973083]\|Bardet-Biedl syndrome 4 [RCV001115696]\|Bardet-Biedl syndrome [RCV001204058]\|Inborn genetic diseases [RCV002556279]	uncertain significance	15	72715399	72715399	Human	3	name , trait , alternate_id
38486089	CV937048	single nucleotide variant	NM_033028.5(BBS4):c.461C>T (p.Ala154Val)	Bardet-Biedl syndrome [RCV001208743]	uncertain significance	15	72724529	72724529	Human	1	name
38456631	CV937049	single nucleotide variant	NM_033028.5(BBS4):c.572A>G (p.Tyr191Cys)	BBS4-related disorder [RCV003414003]\|Bardet-Biedl syndrome 4 [RCV002484146]\|Bardet-Biedl syndrome [RCV001210878]\|Inborn genetic diseases [RCV002561745]	uncertain significance	15	72724640	72724640	Human	3	name , trait , alternate_id
38457921	CV937050	single nucleotide variant	NM_033028.5(BBS4):c.926A>C (p.Asn309Thr)	Bardet-Biedl syndrome [RCV001211261]	uncertain significance	15	72731616	72731616	Human	1	name
38464128	CV937051	single nucleotide variant	NM_033028.5(BBS4):c.994A>G (p.Asn332Asp)	Bardet-Biedl syndrome [RCV001212441]	uncertain significance	15	72731684	72731684	Human	1	name
38457844	CV948995	single nucleotide variant	NM_033028.5(BBS4):c.379G>A (p.Ala127Thr)	BBS4-related disorder [RCV004749628]\|Bardet-Biedl syndrome 4 [RCV002484246]\|Bardet-Biedl syndrome [RCV001228739]	uncertain significance	15	72716824	72716824	Human	2	name , trait , alternate_id
38468542	CV948996	single nucleotide variant	NM_033028.5(BBS4):c.923A>G (p.Tyr308Cys)	BBS4-related disorder [RCV004749629]\|Bardet-Biedl syndrome 4 [RCV002484258]\|Bardet-Biedl syndrome [RCV001230623]	uncertain significance	15	72731613	72731613	Human	2	name , trait , alternate_id
38494074	CV957497	duplication	NM_033028.5(BBS4):c.1126dup (p.Leu376fs)	Bardet-Biedl syndrome [RCV001241101]	pathogenic	15	72735842	72735843	Human	1	name
40888451	CV971463	deletion	NM_033028.5(BBS4):c.221-1047_405+2899del	Bardet-Biedl syndrome 4 [RCV004799547]	likely pathogenic	15	72714244	72719749	Human	1	name
126737374	CV996379	single nucleotide variant	NM_033028.5(BBS4):c.315G>T (p.Lys105Asn)	Bardet-Biedl syndrome [RCV001304868]	uncertain significance	15	72715385	72715385	Human	1	name
126753686	CV996380	single nucleotide variant	NM_033028.5(BBS4):c.697C>G (p.Pro233Ala)	Bardet-Biedl syndrome 4 [RCV002493568]\|Bardet-Biedl syndrome [RCV001297952]\|Inborn genetic diseases [RCV002538497]	uncertain significance	15	72729670	72729670	Human	3	name
126770400	CV1011598	single nucleotide variant	NM_033028.5(BBS4):c.1027C>A (p.Leu343Ile)	Bardet-Biedl syndrome [RCV001322550]\|Inborn genetic diseases [RCV003284192]	uncertain significance	15	72731717	72731717	Human	2	name
126747790	CV1011600	single nucleotide variant	NM_033028.5(BBS4):c.1450G>A (p.Gly484Ser)	Bardet-Biedl syndrome [RCV001326222]	uncertain significance	15	72736963	72736963	Human	1	name
126732036	CV1011602	single nucleotide variant	NM_033028.5(BBS4):c.1517A>T (p.Glu506Val)	Bardet-Biedl syndrome [RCV001313140]	uncertain significance	15	72737544	72737544	Human	1	name
126773018	CV1032127	single nucleotide variant	NM_033028.5(BBS4):c.1394A>G (p.Asn465Ser)	Bardet-Biedl syndrome 4 [RCV001823770]\|Bardet-Biedl syndrome [RCV001345946]	uncertain significance	15	72736907	72736907	Human	2	name
126745632	CV1032128	single nucleotide variant	NM_033028.5(BBS4):c.1409A>T (p.Gln470Leu)	Bardet-Biedl syndrome [RCV001351423]	uncertain significance	15	72736922	72736922	Human	1	name
126912089	CV1049075	single nucleotide variant	NM_033028.5(BBS4):c.1009A>T (p.Met337Leu)	Bardet-Biedl syndrome [RCV001369556]\|not provided [RCV004692660]	uncertain significance	15	72731699	72731699	Human	1	name
126924582	CV1049076	single nucleotide variant	NM_033028.5(BBS4):c.1126C>G (p.Leu376Val)	BBS4-related disorder [RCV003416274]\|Bardet-Biedl syndrome [RCV001367197]	uncertain significance	15	72735844	72735844	Human	2	name , trait , alternate_id
126914928	CV1049078	single nucleotide variant	NM_033028.5(BBS4):c.1248G>C (p.Glu416Asp)	Bardet-Biedl syndrome 4 [RCV002486500]\|Bardet-Biedl syndrome [RCV001359705]	uncertain significance	15	72735966	72735966	Human	2	name
126911090	CV1049079	single nucleotide variant	NM_033028.5(BBS4):c.1390T>C (p.Ser464Pro)	Bardet-Biedl syndrome 4 [RCV002488148]\|Bardet-Biedl syndrome [RCV001369066]	uncertain significance	15	72736903	72736903	Human	2	name
126913944	CV1049080	single nucleotide variant	NM_033028.5(BBS4):c.1462A>G (p.Thr488Ala)	Bardet-Biedl syndrome [RCV001359360]	uncertain significance	15	72737489	72737489	Human	1	name
8647108	CV106744	single nucleotide variant	NM_033028.5(BBS4):c.1316C>T (p.Pro439Leu)	not provided [RCV000087246]	uncertain significance	15	72736829	72736829	Human		name
127330587	CV1124558	single nucleotide variant	NM_033028.5(BBS4):c.1136C>T (p.Ala379Val)	BBS4-related disorder [RCV003900624]\|Bardet-Biedl syndrome [RCV001470946]	likely benign	15	72735854	72735854	Human	2	name , trait , alternate_id
150330660	CV1168693	single nucleotide variant	NM_033028.5(BBS4):c.1375C>T (p.Gln459Ter)	BBS4-related disorder [RCV004749710]\|Bardet-Biedl syndrome 4 [RCV001535955]\|Bardet-Biedl syndrome [RCV003633591]	pathogenic\|likely pathogenic	15	72736888	72736888	Human	2	name , trait , alternate_id
150488720	CV1274265	single nucleotide variant	NM_033028.5(BBS4):c.1451G>A (p.Gly484Asp)	not provided [RCV001699934]	uncertain significance	15	72737478	72737478	Human		name
151662446	CV1330373	single nucleotide variant	NM_033028.5(BBS4):c.1232T>C (p.Leu411Pro)	BBS4-related disorder [RCV004749747]\|Bardet-Biedl syndrome 4 [RCV001823845]\|Bardet-Biedl syndrome [RCV002542749]	uncertain significance	15	72735950	72735950	Human	2	name , trait , alternate_id
151754591	CV1340131	single nucleotide variant	NM_033028.5(BBS4):c.1327C>G (p.Pro443Ala)	Bardet-Biedl syndrome 4 [RCV005006123]\|Bardet-Biedl syndrome [RCV001894675]\|Inborn genetic diseases [RCV004601560]	uncertain significance	15	72736840	72736840	Human	3	name
151831099	CV1343569	single nucleotide variant	NM_033028.5(BBS4):c.1289T>C (p.Val430Ala)	BBS4-related disorder [RCV003416586]\|Bardet-Biedl syndrome [RCV001920500]	uncertain significance	15	72736802	72736802	Human	2	name , trait , alternate_id
151761866	CV1346594	single nucleotide variant	NM_033028.5(BBS4):c.1157G>A (p.Gly386Asp)	BBS4-related disorder [RCV003401985]\|Bardet-Biedl syndrome 4 [RCV005002734]\|Bardet-Biedl syndrome [RCV001970285]	uncertain significance	15	72735875	72735875	Human	2	name , trait , alternate_id
151842685	CV1357744	single nucleotide variant	NM_033028.5(BBS4):c.1193T>C (p.Met398Thr)	BBS4-related disorder [RCV003416539]\|Bardet-Biedl syndrome 4 [RCV002468343]\|Bardet-Biedl syndrome [RCV001881550]\|Inborn genetic diseases [RCV004041400]	uncertain significance	15	72735911	72735911	Human	3	name , trait , alternate_id
151859999	CV1403828	single nucleotide variant	NM_033028.5(BBS4):c.1289T>G (p.Val430Gly)	Bardet-Biedl syndrome [RCV001980004]	uncertain significance	15	72736802	72736802	Human	1	name
151800180	CV1417601	single nucleotide variant	NM_033028.5(BBS4):c.1336A>C (p.Lys446Gln)	Bardet-Biedl syndrome [RCV002047908]	uncertain significance	15	72736849	72736849	Human	1	name
151861969	CV1423519	single nucleotide variant	NM_033028.5(BBS4):c.1171G>A (p.Ala391Thr)	BBS4-related disorder [RCV003418244]\|Bardet-Biedl syndrome 4 [RCV002484775]\|Bardet-Biedl syndrome [RCV001997243]\|Inborn genetic diseases [RCV004970639]	uncertain significance	15	72735889	72735889	Human	3	name , trait , alternate_id
151709690	CV1433260	single nucleotide variant	NM_033028.5(BBS4):c.1550G>A (p.Arg517Lys)	Bardet-Biedl syndrome [RCV002001694]	uncertain significance	15	72737577	72737577	Human	1	name
151841722	CV1438262	single nucleotide variant	NM_033028.5(BBS4):c.1072A>C (p.Lys358Gln)	Bardet-Biedl syndrome [RCV001921612]	uncertain significance	15	72735148	72735148	Human	1	name
151826374	CV1447196	single nucleotide variant	NM_033028.5(BBS4):c.1073A>G (p.Lys358Arg)	BBS4-related disorder [RCV004749752]\|Bardet-Biedl syndrome 4 [RCV002506893]\|Bardet-Biedl syndrome [RCV001870101]	uncertain significance	15	72735149	72735149	Human	2	name , trait , alternate_id
151863778	CV1461047	single nucleotide variant	NM_033028.5(BBS4):c.1429G>A (p.Ala477Thr)	Bardet-Biedl syndrome [RCV001905644]	uncertain significance	15	72736942	72736942	Human	1	name
151840537	CV1462487	single nucleotide variant	NM_033028.5(BBS4):c.1114C>T (p.Pro372Ser)	BBS4-related disorder [RCV003892186]\|Bardet-Biedl syndrome 4 [RCV002497994]\|Bardet-Biedl syndrome [RCV002015278]	uncertain significance	15	72735832	72735832	Human	2	name , trait , alternate_id
151850375	CV1465754	single nucleotide variant	NM_033028.5(BBS4):c.1319T>A (p.Val440Asp)	Bardet-Biedl syndrome [RCV002033088]	uncertain significance	15	72736832	72736832	Human	1	name
151887658	CV1472044	single nucleotide variant	NM_033028.5(BBS4):c.1306T>G (p.Trp436Gly)	BBS4-related disorder [RCV004749817]\|Bardet-Biedl syndrome [RCV002000928]	uncertain significance	15	72736819	72736819	Human	2	name , trait , alternate_id
151748919	CV1487306	single nucleotide variant	NM_033028.5(BBS4):c.1133A>G (p.Tyr378Cys)	Bardet-Biedl syndrome [RCV001947931]	uncertain significance	15	72735851	72735851	Human	1	name
151829795	CV1491603	single nucleotide variant	NM_033028.5(BBS4):c.1414A>C (p.Met472Leu)	Bardet-Biedl syndrome [RCV002030685]	uncertain significance	15	72736927	72736927	Human	1	name
151823545	CV1494248	single nucleotide variant	NM_033028.5(BBS4):c.1340A>C (p.His447Pro)	Bardet-Biedl syndrome [RCV001955002]	uncertain significance	15	72736853	72736853	Human	1	name
151834464	CV1505069	single nucleotide variant	NM_033028.5(BBS4):c.1459G>C (p.Gly487Arg)	Bardet-Biedl syndrome [RCV001976983]	uncertain significance	15	72737486	72737486	Human	1	name
151814543	CV1507290	single nucleotide variant	NM_033028.5(BBS4):c.1076G>C (p.Arg359Thr)	Bardet-Biedl syndrome [RCV001954152]	uncertain significance	15	72735152	72735152	Human	1	name
151842619	CV1511358	single nucleotide variant	NM_033028.5(BBS4):c.1541A>G (p.Glu514Gly)	Bardet-Biedl syndrome [RCV001994939]	uncertain significance	15	72737568	72737568	Human	1	name
9480346	CV152879	single nucleotide variant	NM_033028.5(BBS4):c.1414A>G (p.Met472Val)	Bardet-Biedl syndrome 4 [RCV000490439]\|Bardet-Biedl syndrome [RCV001085941]\|not provided [RCV000132689]\|not specified [RCV000246726]	likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	15	72736927	72736927	Human	2	name
9692711	CV177020	single nucleotide variant	NM_033028.5(BBS4):c.1049A>G (p.Asn350Ser)	BBS4-related disorder [RCV003917487]\|Bardet-Biedl syndrome [RCV001085932]\|not provided [RCV000152841]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	15	72735125	72735125	Human	2	name , trait , alternate_id
156046720	CV1868762	single nucleotide variant	NM_033028.5(BBS4):c.1510G>A (p.Ala504Thr)	BBS4-related disorder [RCV004725492]\|Bardet-Biedl syndrome [RCV003052853]	uncertain significance	15	72737537	72737537	Human	2	name , trait , alternate_id
156209698	CV1871344	single nucleotide variant	NM_033028.5(BBS4):c.1180C>T (p.Gln394Ter)	Bardet-Biedl syndrome 4 [RCV003138468]\|Bardet-Biedl syndrome [RCV003058480]	pathogenic\|likely pathogenic	15	72735898	72735898	Human	2	name
156291955	CV1881950	single nucleotide variant	NM_033028.5(BBS4):c.1039G>A (p.Ala347Thr)	BBS4-related disorder [RCV004750261]\|Bardet-Biedl syndrome [RCV003061496]	uncertain significance	15	72735115	72735115	Human	2	name , trait , alternate_id
156029025	CV1914220	single nucleotide variant	NM_033028.5(BBS4):c.1264C>T (p.Gln422Ter)	Bardet-Biedl syndrome 4 [RCV003459759]\|Bardet-Biedl syndrome [RCV002619764]	pathogenic\|likely pathogenic	15	72736777	72736777	Human	2	name
156024273	CV1922286	single nucleotide variant	NM_033028.5(BBS4):c.1388G>C (p.Gly463Ala)	Bardet-Biedl syndrome [RCV002636860]	uncertain significance	15	72736901	72736901	Human	1	name
156441686	CV1941015	single nucleotide variant	NM_033028.5(BBS4):c.1183T>C (p.Tyr395His)	Bardet-Biedl syndrome [RCV003112015]	uncertain significance	15	72735901	72735901	Human	1	name
156128351	CV1953090	single nucleotide variant	NM_033028.5(BBS4):c.1456G>A (p.Gly486Arg)	Bardet-Biedl syndrome [RCV002572132]\|Retinal dystrophy [RCV004817043]	uncertain significance	15	72737483	72737483	Human	3	name
155904875	CV1975927	single nucleotide variant	NM_033028.5(BBS4):c.1083C>A (p.Tyr361Ter)	Bardet-Biedl syndrome [RCV002613613]	pathogenic	15	72735159	72735159	Human	1	name
156400734	CV2013315	single nucleotide variant	NM_033028.5(BBS4):c.1483C>T (p.Pro495Ser)	Bardet-Biedl syndrome [RCV002725974]	uncertain significance	15	72737510	72737510	Human	1	name
156026193	CV2020287	single nucleotide variant	NM_033028.5(BBS4):c.1468C>T (p.Gln490Ter)	Bardet-Biedl syndrome [RCV002691238]	uncertain significance	15	72737495	72737495	Human	1	name
156014290	CV2046453	single nucleotide variant	NM_033028.5(BBS4):c.1506G>T (p.Glu502Asp)	Bardet-Biedl syndrome [RCV002795269]	uncertain significance	15	72737533	72737533	Human	1	name
156057006	CV2050639	single nucleotide variant	NM_033028.5(BBS4):c.1032G>C (p.Leu344Phe)	Bardet-Biedl syndrome [RCV002796961]	uncertain significance	15	72731722	72731722	Human	1	name
156030470	CV2052222	single nucleotide variant	NM_033028.5(BBS4):c.1405G>C (p.Gly469Arg)	Bardet-Biedl syndrome [RCV002821042]	uncertain significance	15	72736918	72736918	Human	1	name
156221356	CV2104803	single nucleotide variant	NM_033028.5(BBS4):c.1226G>T (p.Ser409Ile)	Bardet-Biedl syndrome [RCV002932468]	uncertain significance	15	72735944	72735944	Human	1	name
156079627	CV2138115	single nucleotide variant	NM_033028.5(BBS4):c.1159G>A (p.Glu387Lys)	Bardet-Biedl syndrome [RCV002979214]	uncertain significance	15	72735877	72735877	Human	1	name
155934647	CV2153560	single nucleotide variant	NM_033028.5(BBS4):c.1287G>T (p.Gln429His)	Bardet-Biedl syndrome [RCV003013846]	uncertain significance	15	72736800	72736800	Human	1	name
156189119	CV2178861	single nucleotide variant	NM_033028.5(BBS4):c.1166A>G (p.Lys389Arg)	Bardet-Biedl syndrome [RCV003057775]	uncertain significance	15	72735884	72735884	Human	1	name
156048056	CV2220117	single nucleotide variant	NM_033028.5(BBS4):c.1288G>T (p.Val430Phe)	Bardet-Biedl syndrome [RCV003222466]\|Inborn genetic diseases [RCV002692676]	likely pathogenic\|uncertain significance	15	72736801	72736801	Human	2	name
156025517	CV2242246	single nucleotide variant	NM_033028.5(BBS4):c.1200G>T (p.Lys400Asn)	Inborn genetic diseases [RCV002757671]	uncertain significance	15	72735918	72735918	Human	1	name
243064894	CV2409454	single nucleotide variant	NM_033028.5(BBS4):c.1391C>G (p.Ser464Cys)	Bardet-Biedl syndrome 4 [RCV003143744]	uncertain significance	15	72736904	72736904	Human	1	name
243064898	CV2409458	single nucleotide variant	NM_033028.5(BBS4):c.1286A>G (p.Gln429Arg)	Bardet-Biedl syndrome 4 [RCV003143748]	uncertain significance	15	72736799	72736799	Human	1	name
8598178	CV24187	single nucleotide variant	NM_033028.5(BBS4):c.1091C>A (p.Ala364Glu)	Bardet-Biedl syndrome 1 [RCV003228893]\|Bardet-Biedl syndrome 4 [RCV000009719]	pathogenic\|likely pathogenic	15	72735167	72735167	Human	2	name
329401454	CV2460906	single nucleotide variant	NM_033028.5(BBS4):c.1359C>A (p.Ser453Arg)	Inborn genetic diseases [RCV003198461]	uncertain significance	15	72736872	72736872	Human	1	name
11543270	CV255356	single nucleotide variant	NM_033028.5(BBS4):c.1236A>T (p.Glu412Asp)	Bardet-Biedl syndrome 4 [RCV001117120]\|Bardet-Biedl syndrome [RCV001081942]\|not provided [RCV000638381]\|not specified [RCV000242237]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	15	72735954	72735954	Human	2	name
329954005	CV2669347	single nucleotide variant	NM_033028.5(BBS4):c.1271T>C (p.Leu424Ser)	not provided [RCV003231854]	uncertain significance	15	72736784	72736784	Human		name
401777117	CV2707728	single nucleotide variant	NM_033028.5(BBS4):c.1454C>A (p.Ala485Asp)	Inborn genetic diseases [RCV003286654]	uncertain significance	15	72737481	72737481	Human	1	name
401946412	CV2833766	single nucleotide variant	NM_033028.5(BBS4):c.1185T>A (p.Tyr395Ter)	Bardet-Biedl syndrome 4 [RCV003465076]	likely pathogenic	15	72735903	72735903	Human	1	name
401946448	CV2833779	single nucleotide variant	NM_033028.5(BBS4):c.1118T>A (p.Leu373Ter)	Bardet-Biedl syndrome 4 [RCV003465089]	likely pathogenic	15	72735836	72735836	Human	1	name
401946464	CV2833785	single nucleotide variant	NM_033028.5(BBS4):c.1308G>A (p.Trp436Ter)	Bardet-Biedl syndrome 4 [RCV003465095]	likely pathogenic	15	72736821	72736821	Human	1	name
11608775	CV323323	single nucleotide variant	NM_033028.5(BBS4):c.1309A>G (p.Thr437Ala)	Bardet-Biedl syndrome 4 [RCV000359706]\|Bardet-Biedl syndrome [RCV001850677]	uncertain significance	15	72736822	72736822	Human	2	name
11644616	CV323325	single nucleotide variant	NM_033028.5(BBS4):c.1473C>G (p.Phe491Leu)	Bardet-Biedl syndrome 4 [RCV000261088]	uncertain significance	15	72737500	72737500	Human	1	name
405872338	CV3399881	single nucleotide variant	NM_033028.5(BBS4):c.1159G>T (p.Glu387Ter)	Bardet-Biedl syndrome 4 [RCV004575384]	likely pathogenic	15	72735877	72735877	Human	1	name
596942272	CV3408434	single nucleotide variant	NM_033028.5(BBS4):c.1138G>A (p.Val380Met)	Retinal dystrophy [RCV004816105]	uncertain significance	15	72735856	72735856	Human	2	name
11613083	CV341278	single nucleotide variant	NM_033028.5(BBS4):c.1376A>G (p.Gln459Arg)	Bardet-Biedl syndrome 4 [RCV000265022]	uncertain significance	15	72736889	72736889	Human	1	name
407495134	CV3417576	single nucleotide variant	NM_033028.5(BBS4):c.1303G>A (p.Val435Ile)	Inborn genetic diseases [RCV004605754]	uncertain significance	15	72736816	72736816	Human	1	name
8601370	CV34586	single nucleotide variant	NM_033028.5(BBS4):c.1061T>C (p.Ile354Thr)	Bardet-Biedl syndrome 1 [RCV000709673]\|Bardet-Biedl syndrome 4 [RCV001094309]\|Bardet-Biedl syndrome [RCV000020938]\|not provided [RCV000132688]\|not specified [RCV000152842]	benign\|likely benign	15	72735137	72735137	Human	7	name
8601370	CV34586	single nucleotide variant	NM_033028.5(BBS4):c.1061T>C (p.Ile354Thr)	Bardet-Biedl syndrome 1 [RCV000709673]\|Bardet-Biedl syndrome 4 [RCV001094309]\|Bardet-Biedl syndrome [RCV000020938]\|not provided [RCV000132688]\|not specified [RCV000152842]	benign\|likely benign	15	72735137	72735138	Human	7	name
408379789	CV3507041	single nucleotide variant	NM_033028.5(BBS4):c.1007A>C (p.Lys336Thr)	BBS4-related disorder [RCV004728500]	uncertain significance	15	72731697	72731697	Human		name , trait , alternate_id
408377153	CV3507454	single nucleotide variant	NM_033028.5(BBS4):c.1213C>T (p.Leu405Phe)	BBS4-related disorder [RCV004750534]	uncertain significance	15	72735931	72735931	Human		name , trait , alternate_id
408377154	CV3507458	single nucleotide variant	NM_033028.5(BBS4):c.1082A>G (p.Tyr361Cys)	BBS4-related disorder [RCV004750535]	uncertain significance	15	72735158	72735158	Human		name , trait , alternate_id
408375461	CV3509360	single nucleotide variant	NM_033028.5(BBS4):c.1072A>G (p.Lys358Glu)	BBS4-related disorder [RCV004748082]	uncertain significance	15	72735148	72735148	Human		name , trait , alternate_id
408375723	CV3510786	single nucleotide variant	NM_033028.5(BBS4):c.1448C>T (p.Ser483Leu)	BBS4-related disorder [RCV004748264]	uncertain significance	15	72736961	72736961	Human		name , trait , alternate_id
408375989	CV3511926	single nucleotide variant	NM_033028.5(BBS4):c.1292G>A (p.Gly431Glu)	BBS4-related disorder [RCV004748406]	uncertain significance	15	72736805	72736805	Human		name , trait , alternate_id
408376133	CV3512549	single nucleotide variant	NM_033028.5(BBS4):c.1226G>C (p.Ser409Thr)	BBS4-related disorder [RCV004748482]	uncertain significance	15	72735944	72735944	Human		name , trait , alternate_id
408376551	CV3514468	single nucleotide variant	NM_033028.5(BBS4):c.1048A>C (p.Asn350His)	BBS4-related disorder [RCV004749232]	uncertain significance	15	72735124	72735124	Human		name , trait , alternate_id
408379851	CV3514828	single nucleotide variant	NM_033028.5(BBS4):c.1036G>A (p.Val346Met)	BBS4-related disorder [RCV004749280]\|not provided [RCV004775636]	uncertain significance	15	72731726	72731726	Human	1	name , trait , alternate_id
596946612	CV3548439	single nucleotide variant	NM_033028.5(BBS4):c.1403T>C (p.Leu468Pro)	Bardet-Biedl syndrome 4 [RCV005006578]\|not provided [RCV004810266]	uncertain significance	15	72736916	72736916	Human	1	name
597626612	CV3642957	single nucleotide variant	NM_033028.5(BBS4):c.1430C>T (p.Ala477Val)	Inborn genetic diseases [RCV004965161]\|not provided [RCV005251424]	uncertain significance	15	72736943	72736943	Human	1	name
597626615	CV3642958	single nucleotide variant	NM_033028.5(BBS4):c.1160A>G (p.Glu387Gly)	Inborn genetic diseases [RCV004965162]	uncertain significance	15	72735878	72735878	Human	1	name
597626616	CV3642959	single nucleotide variant	NM_033028.5(BBS4):c.1489C>A (p.Leu497Ile)	Inborn genetic diseases [RCV004965163]	uncertain significance	15	72737516	72737516	Human	1	name
597632350	CV3704256	single nucleotide variant	NM_033028.5(BBS4):c.1017G>C (p.Glu339Asp)	Bardet-Biedl syndrome 4 [RCV005003162]	uncertain significance	15	72731707	72731707	Human	1	name
597730626	CV3704257	single nucleotide variant	NM_033028.5(BBS4):c.1064A>G (p.Glu355Gly)	Bardet-Biedl syndrome 4 [RCV005011906]	uncertain significance	15	72735140	72735140	Human	1	name
597632353	CV3704258	single nucleotide variant	NM_033028.5(BBS4):c.1135G>T (p.Ala379Ser)	Bardet-Biedl syndrome 4 [RCV005003163]	uncertain significance	15	72735853	72735853	Human	1	name
597632358	CV3704259	single nucleotide variant	NM_033028.5(BBS4):c.1207A>G (p.Ser403Gly)	Bardet-Biedl syndrome 4 [RCV005003164]	uncertain significance	15	72735925	72735925	Human	1	name
597730637	CV3704260	single nucleotide variant	NM_033028.5(BBS4):c.1313A>G (p.Lys438Arg)	Bardet-Biedl syndrome 4 [RCV005011907]	uncertain significance	15	72736826	72736826	Human	1	name
597632363	CV3704261	single nucleotide variant	NM_033028.5(BBS4):c.1352C>A (p.Ser451Ter)	Bardet-Biedl syndrome 4 [RCV005003165]	likely pathogenic	15	72736865	72736865	Human	1	name
597730646	CV3704262	single nucleotide variant	NM_033028.5(BBS4):c.1391C>T (p.Ser464Phe)	Bardet-Biedl syndrome 4 [RCV005011908]	uncertain significance	15	72736904	72736904	Human	1	name
597632372	CV3704265	single nucleotide variant	NM_033028.5(BBS4):c.1432T>C (p.Tyr478His)	Bardet-Biedl syndrome 4 [RCV005003167]	uncertain significance	15	72736945	72736945	Human	1	name
597730657	CV3704266	single nucleotide variant	NM_033028.5(BBS4):c.1493C>A (p.Pro498His)	Bardet-Biedl syndrome 4 [RCV005011909]	uncertain significance	15	72737520	72737520	Human	1	name
597730666	CV3704268	single nucleotide variant	NM_033028.5(BBS4):c.1498G>C (p.Glu500Gln)	Bardet-Biedl syndrome 4 [RCV005011910]	uncertain significance	15	72737525	72737525	Human	1	name
597730677	CV3704269	single nucleotide variant	NM_033028.5(BBS4):c.1507C>G (p.Pro503Ala)	Bardet-Biedl syndrome 4 [RCV005011911]	uncertain significance	15	72737534	72737534	Human	1	name
597934996	CV3777147	single nucleotide variant	NM_033028.5(BBS4):c.1185T>G (p.Tyr395Ter)	Bardet-Biedl syndrome [RCV005117306]	pathogenic	15	72735903	72735903	Human	1	name
597974681	CV3798506	single nucleotide variant	NM_033028.5(BBS4):c.1024A>G (p.Met342Val)	Bardet-Biedl syndrome [RCV005144094]	uncertain significance	15	72731714	72731714	Human	1	name
13216184	CV429717	single nucleotide variant	NM_033028.5(BBS4):c.1172C>T (p.Ala391Val)	Bardet-Biedl syndrome 4 [RCV002481609]\|Bardet-Biedl syndrome [RCV001346224]\|not specified [RCV000503339]	uncertain significance	15	72735890	72735890	Human	2	name
13496213	CV464496	single nucleotide variant	NM_033028.5(BBS4):c.1463C>A (p.Thr488Lys)	Bardet-Biedl syndrome [RCV002060311]\|not provided [RCV000537692]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	15	72737490	72737490	Human	1	name
13517034	CV488963	single nucleotide variant	NM_033028.5(BBS4):c.1089A>C (p.Glu363Asp)	Bardet-Biedl syndrome 4 [RCV005010566]\|Inborn genetic diseases [RCV002532378]\|not provided [RCV000596254]	uncertain significance	15	72735165	72735165	Human	2	name
14693098	CV620528	single nucleotide variant	NM_033028.5(BBS4):c.1103A>G (p.Asp368Gly)	Bardet-Biedl syndrome 4 [RCV000778447]\|Bardet-Biedl syndrome [RCV003768427]\|not provided [RCV003389830]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	15	72735179	72735179	Human	2	name
14741765	CV643522	single nucleotide variant	NM_033028.5(BBS4):c.1348A>C (p.Thr450Pro)	Bardet-Biedl syndrome 4 [RCV002507442]\|Bardet-Biedl syndrome [RCV000822381]	uncertain significance	15	72736861	72736861	Human	2	name
26916014	CV842664	single nucleotide variant	NM_033028.5(BBS4):c.1200G>C (p.Lys400Asn)	Bardet-Biedl syndrome [RCV001041683]	uncertain significance	15	72735918	72735918	Human	1	name
26913578	CV842665	single nucleotide variant	NM_033028.5(BBS4):c.1325A>G (p.Asp442Gly)	Bardet-Biedl syndrome 4 [RCV002481987]\|Bardet-Biedl syndrome [RCV001054333]	uncertain significance	15	72736838	72736838	Human	2	name
26915560	CV842666	single nucleotide variant	NM_033028.5(BBS4):c.1369A>G (p.Ser457Gly)	Bardet-Biedl syndrome 4 [RCV005005013]\|Bardet-Biedl syndrome [RCV001055798]	uncertain significance	15	72736882	72736882	Human	2	name
26917605	CV842667	single nucleotide variant	NM_033028.5(BBS4):c.1511C>T (p.Ala504Val)	BBS4-related disorder [RCV003405233]\|Bardet-Biedl syndrome 4 [RCV001118760]\|Bardet-Biedl syndrome [RCV001042749]\|Inborn genetic diseases [RCV004601334]	uncertain significance	15	72737538	72737538	Human	3	name , trait , alternate_id
28884508	CV874080	single nucleotide variant	NM_033028.5(BBS4):c.1556A>G (p.Lys519Arg)	BBS4-related disorder [RCV003396755]\|Bardet-Biedl syndrome 4 [RCV001118762]\|Bardet-Biedl syndrome [RCV001230721]\|not provided [RCV003229878]	uncertain significance	15	72737583	72737583	Human	2	name , trait , alternate_id
38467754	CV937053	single nucleotide variant	NM_033028.5(BBS4):c.1439C>T (p.Thr480Met)	BBS4-related disorder [RCV004749617]\|Bardet-Biedl syndrome 4 [RCV004720295]\|Bardet-Biedl syndrome [RCV001202083]\|Inborn genetic diseases [RCV004963175]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	15	72736952	72736952	Human	3	name , trait , alternate_id
38458831	CV948997	single nucleotide variant	NM_033028.5(BBS4):c.1013G>T (p.Gly338Val)	Bardet-Biedl syndrome 4 [RCV002484249]\|Bardet-Biedl syndrome [RCV001229021]	uncertain significance	15	72731703	72731703	Human	2	name
38480766	CV949000	single nucleotide variant	NM_033028.5(BBS4):c.1223A>G (p.Asn408Ser)	Bardet-Biedl syndrome 4 [RCV002484283]\|Bardet-Biedl syndrome [RCV001234841]	uncertain significance	15	72735941	72735941	Human	2	name
38471662	CV949001	single nucleotide variant	NM_033028.5(BBS4):c.1322A>C (p.Lys441Thr)	BBS4-related disorder [RCV003963138]\|Bardet-Biedl syndrome 4 [RCV005005104]\|Bardet-Biedl syndrome [RCV001231278]\|Inborn genetic diseases [RCV003166409]	uncertain significance	15	72736835	72736835	Human	3	name , trait , alternate_id
38494002	CV957496	single nucleotide variant	NM_033028.5(BBS4):c.1084G>A (p.Ala362Thr)	BBS4-related disorder [RCV004749633]\|Bardet-Biedl syndrome 4 [RCV002499398]\|Bardet-Biedl syndrome [RCV001241047]	uncertain significance	15	72735160	72735160	Human	2	name , trait , alternate_id
126743588	CV996381	single nucleotide variant	NM_033028.5(BBS4):c.1063G>C (p.Glu355Gln)	Bardet-Biedl syndrome [RCV001296211]\|Inborn genetic diseases [RCV004036024]\|not specified [RCV001819985]	uncertain significance	15	72735139	72735139	Human	2	name
401946451	CV2833780	deletion	NM_033028.5(BBS4):c.276_277del (p.Ala94fs)	Bardet-Biedl syndrome 4 [RCV003465090]\|Bardet-Biedl syndrome [RCV003523203]	pathogenic\|likely pathogenic	15	72715346	72715347	Human	2	name
405094665	CV3011939	deletion	NM_033028.5(BBS4):c.186_187del (p.Gln63fs)	Bardet-Biedl syndrome [RCV003635181]	pathogenic	15	72712272	72712273	Human	1	name
21404152	CV672023	microsatellite	NM_033028.5(BBS4):c.210_213del (p.Ile70fs)	Bardet-Biedl syndrome 4 [RCV000999693]	likely pathogenic	15	72712293	72712296	Human		name
151881911	CV1439029	deletion	NM_033028.5(BBS4):c.836_842del (p.Cys279fs)	Bardet-Biedl syndrome [RCV001999726]	pathogenic	15	72731428	72731434	Human	1	name
156417052	CV1919298	microsatellite	NM_033028.5(BBS4):c.780_781del (p.Arg260fs)	Bardet-Biedl syndrome [RCV002610503]	pathogenic	15	72731371	72731372	Human		name
401946426	CV2833771	microsatellite	NM_033028.5(BBS4):c.608_609del (p.Glu203fs)	Bardet-Biedl syndrome 4 [RCV003465081]	likely pathogenic	15	72727958	72727959	Human		name
401946429	CV2833772	duplication	NM_033028.5(BBS4):c.584_585dup (p.Glu196fs)	Bardet-Biedl syndrome 4 [RCV003465082]	likely pathogenic	15	72724650	72724651	Human	1	name
405870374	CV3399872	deletion	NM_033028.5(BBS4):c.389_393del (p.Leu130fs)	Bardet-Biedl syndrome 4 [RCV004574020]	likely pathogenic	15	72716831	72716835	Human	1	name
405870384	CV3399876	deletion	NM_033028.5(BBS4):c.466_479del (p.Asp156fs)	Bardet-Biedl syndrome 4 [RCV004574024]	likely pathogenic	15	72724528	72724541	Human	1	name
126751423	CV1011599	microsatellite	NM_033028.5(BBS4):c.1197GAA[1] (p.Lys401del)	Bardet-Biedl syndrome [RCV001316113]\|Inborn genetic diseases [RCV002543684]	uncertain significance	15	72735914	72735916	Human		name
156157367	CV1926305	inversion	NM_033028.5(BBS4):c.906_907inv (p.Asp303Asn)	Bardet-Biedl syndrome [RCV002624230]	uncertain significance	15	72731596	72731597	Human		name
408379575	CV3507125	deletion	NM_033028.5(BBS4):c.824_826del (p.Asn275del)	BBS4-related disorder [RCV004728548]	uncertain significance	15	72731416	72731418	Human		name , trait , alternate_id
38482890	CV948999	microsatellite	NM_033028.5(BBS4):c.1161GAA[2] (p.Lys389del)	BBS4-related disorder [RCV003405427]\|Bardet-Biedl syndrome 4 [RCV002480769]\|Bardet-Biedl syndrome [RCV001235703]\|not provided [RCV001773532]	uncertain significance	15	72735878	72735880	Human		name , trait , alternate_id
8643144	CV102127	deletion	NM_033028.5(BBS4):c.1548_1549del (p.Ile516fs)	BBS4-related disorder [RCV003905070]\|Bardet-Biedl syndrome [RCV001086996]\|not provided [RCV000082312]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	15	72737575	72737576	Human	2	name , trait , alternate_id
150330668	CV1168692	deletion	NM_033028.5(BBS4):c.1318_1321del (p.Val440fs)	Bardet-Biedl syndrome 4 [RCV001535961]\|Bardet-Biedl syndrome [RCV002568924]	pathogenic\|likely pathogenic	15	72736830	72736833	Human	2	name
151735501	CV1494351	microsatellite	NM_033028.5(BBS4):c.1554_1555del (p.Lys519fs)	Bardet-Biedl syndrome 4 [RCV002507633]\|Bardet-Biedl syndrome [RCV001984661]\|not provided [RCV004694005]	uncertain significance	15	72737576	72737577	Human		name
155962300	CV2080527	deletion	NM_033028.5(BBS4):c.1016_1017del (p.Glu339fs)	Bardet-Biedl syndrome [RCV002862916]	pathogenic	15	72731705	72731706	Human	1	name
243062642	CV2406744	deletion	NM_033028.5(BBS4):c.1205_1208del (p.Val402fs)	Bardet-Biedl syndrome 4 [RCV003140670]	likely pathogenic	15	72735921	72735924	Human	1	name
401946434	CV2833774	duplication	NM_033028.5(BBS4):c.1202_1203dup (p.Val402fs)	Bardet-Biedl syndrome 4 [RCV003465084]	likely pathogenic	15	72735918	72735919	Human	1	name
405088216	CV2968465	deletion	NM_033028.5(BBS4):c.1140_1147del (p.Leu381fs)	Bardet-Biedl syndrome 4 [RCV005003683]\|Bardet-Biedl syndrome [RCV003634600]	pathogenic\|likely pathogenic	15	72735852	72735859	Human	2	name
38463168	CV801448	deletion	NM_033028.5(BBS4):c.1541_1551del (p.Glu514fs)	BBS4-related disorder [RCV004749583]\|Bardet-Biedl syndrome [RCV001236156]\|Retinitis pigmentosa [RCV001199437]\|not specified [RCV002222654]	pathogenic\|uncertain significance	15	72737568	72737578	Human	4	name , trait , alternate_id
26910244	CV856822	deletion	NM_033028.5(BBS4):c.1072_1073del (p.Lys358fs)	Bardet-Biedl syndrome 4 [RCV003462632]\|Retinal dystrophy [RCV001074631]	pathogenic\|likely pathogenic	15	72735148	72735149	Human	3	name
38481023	CV948998	duplication	NM_033028.5(BBS4):c.1116_1119dup (p.Val374fs)	Bardet-Biedl syndrome [RCV001234943]	pathogenic	15	72735833	72735834	Human	1	name
156441782	CV1941487	deletion	NM_033028.5(BBS4):c.1549_1551del (p.Arg517del)	BBS4-related disorder [RCV004750349]\|Bardet-Biedl syndrome [RCV003112114]	uncertain significance	15	72737575	72737577	Human	2	name , trait , alternate_id
408377029	CV3517797	deletion	NM_033028.5(BBS4):c.1195_1197del (p.Glu399del)	BBS4-related disorder [RCV004750171]	uncertain significance	15	72735912	72735914	Human		name , trait , alternate_id
15121175	CV684554	duplication	NM_033028.5(BBS4):c.1223_1225dup (p.Asn408dup)	BBS4-related disorder [RCV003948062]\|Bardet-Biedl syndrome 4 [RCV002501202]\|Bardet-Biedl syndrome [RCV000861817]	benign\|likely benign	15	72735939	72735940	Human	2	name , trait , alternate_id
150540492	CV1314617	insertion	NM_033028.5(BBS4):c.1311_1312insT (p.Lys438Ter)	BBS4-related disorder [RCV003911013]\|Bardet-Biedl syndrome 4 [RCV001781050]	pathogenic\|likely pathogenic	15	72736824	72736825	Human	1	name , trait , alternate_id
404988353	CV2911344	insertion	NM_033028.5(BBS4):c.453_454insGAAC (p.Asn152fs)	Bardet-Biedl syndrome [RCV003524783]	pathogenic	15	72722840	72722841	Human	1	name
38462266	CV919594	indel	NM_033028.5(BBS4):c.289_291delinsTG (p.Ser97fs)	Bardet-Biedl syndrome 4 [RCV001198349]	likely pathogenic	15	72715359	72715361	Human		name
597632334	CV3704250	indel	NM_033028.5(BBS4):c.699_702delinsACG (p.Thr234fs)	Bardet-Biedl syndrome 4 [RCV005003158]	likely pathogenic	15	72729672	72729675	Human		name
401946398	CV2833760	deletion	NM_033028.5(BBS4):c.819del (p.Leu272_Trp273insTer)	Bardet-Biedl syndrome 4 [RCV003465070]	likely pathogenic	15	72731411	72731411	Human	1	name
13520400	CV495356	deletion	NM_033028.5(BBS4):c.1022_1030del (p.Tyr341_Leu343del)	not provided [RCV000598607]	uncertain significance	15	72731707	72731715	Human		name
150407187	CV1200044	deletion	NM_033028.5(BBS4):c.777_778del (p.Tyr259_Arg260delinsTer)	Bardet-Biedl syndrome 4 [RCV002227526]\|Bardet-Biedl syndrome [RCV002570820]\|Retinitis pigmentosa [RCV001724373]\|not provided [RCV001579693]	pathogenic\|likely pathogenic	15	72731369	72731370	Human	4	name
405290694	CV3207628	deletion	NM_033028.5(BBS4):c.1479_1481del (p.Lys493_Pro494delinsAsn)	BBS4-related disorder [RCV003927194]	uncertain significance	15	72737506	72737508	Human		name , trait , alternate_id
408375670	CV3506385	indel	NM_033028.5(BBS4):c.1201_1205delinsTCAGC (p.Lys401_Val402delinsSerAla)	BBS4-related disorder [RCV004726263]	uncertain significance	15	72735919	72735923	Human		name , trait , alternate_id

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