Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)	SNV Germline	Chr11:66526181	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 1 Condition: not provided Bardet-Biedl syndrome Retinal dystrophy Retinitis pigmentosa Usher syndrome See cases BBS1-related disorder Inborn genetic diseases Severe early-childhood-onset retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA223760	rs_113624356	54 SubmittersRCV000012926 RCV000082202 RCV000174408 RCV000210319 RCV000504693 RCV000787785 RCV002251900 RCV003390672 RCV002513000 RCV005621849
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter)	SNV Germline	Chr11:66531692	Pathogenic	Bardet-Biedl syndrome 1 Bardet-Biedl syndrome Condition: not provided Retinitis pigmentosa Inborn genetic diseases BBS1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA256226	rs_121917777	11 SubmittersRCV000012927 RCV000169202 RCV001008645 RCV001723562 RCV002513001 RCV003934827
NM_024649.5(BBS1):c.432+1G>A	SNV Germline	Chr11:66514679	Pathogenic	Bardet-Biedl syndrome 1 Bardet-Biedl syndrome Condition: not provided BBS1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA256228	rs_587777829	8 SubmittersRCV000012928 RCV000169013 RCV002225262 RCV004742225
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro)	SNV Germline	Chr11:66530973	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 1 Bardet-Biedl syndrome Retinal dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA256230	rs_121917778	9 SubmittersRCV000012930 RCV001055313 RCV001075155 RCV001753415
NM_024649.5(BBS1):c.1340-2A>G	SNV Germline	Chr11:66529817	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Bardet-Biedl syndrome 1	Criteria Provided Conflicting Classifications	CA342396	rs_113994180	3 SubmittersRCV000020904 RCV003989297
NM_024649.5(BBS1):c.831-3C>G	SNV Germline	Chr11:66523453	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Bardet-Biedl syndrome 1	Criteria Provided Conflicting Classifications	CA342397	rs_113994179	4 SubmittersRCV000020905 RCV000995705
NM_024649.5(BBS1):c.670G>A (p.Glu224Lys)	SNV Germline	Chr11:66519695	Conflicting classifications of pathogenicity	Retinal dystrophy Bardet-Biedl syndrome Condition: not provided Bardet-Biedl syndrome 1	Criteria Provided Conflicting Classifications	CA260179	rs_193922709	9 SubmittersRCV001074387 RCV001228905 RCV001725934 RCV001835636
NM_024649.5(BBS1):c.1474-8C>T	SNV Germline	Chr11:66530886	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome Bardet-Biedl syndrome 1 not specified	Criteria Provided Conflicting Classifications	CA223761	rs_398124402	4 SubmittersRCV000082203 RCV001085650 RCV002467564 RCV005406812
NM_024649.5(BBS1):c.831-5C>T	SNV Germline	Chr11:66523451	Conflicting classifications of pathogenicity	not specified Bardet-Biedl syndrome Bardet-Biedl syndrome 1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA149269	rs_56177555	10 SubmittersRCV000082205 RCV000861255 RCV001104146 RCV001573960 RCV002513848
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter)	SNV Germline	Chr11:66515543	Pathogenic	Bardet-Biedl syndrome Condition: not provided Bardet-Biedl syndrome 1 Retinal dystrophy BBS1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA273912	rs_786204444	10 SubmittersRCV000169066 RCV000627244 RCV001272374 RCV004815258 RCV003398862
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter)	SNV Germline	Chr11:66526753	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome Condition: not provided Bardet-Biedl syndrome 1 BBS1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA274213	rs_768443448	14 SubmittersRCV000169362 RCV001092071 RCV000984149 RCV004742303
NM_024649.5(BBS1):c.24T>C (p.Asp8=)	SNV Germline	Chr11:66510683	Conflicting classifications of pathogenicity	not specified Bardet-Biedl syndrome 1 Bardet-Biedl syndrome BBS1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA200595	rs_55848325	13 SubmittersRCV000173529 RCV000709651 RCV000226235 RCV003891704 RCV003407641
NM_024649.5(BBS1):c.48-3C>G	SNV Germline	Chr11:66511010	Pathogenic	Bardet-Biedl syndrome 1	No Assertion Criteria Provided	CA351676	rs_869025204	1 SubmittersRCV000207828
NM_024649.5(BBS1):c.1012C>T (p.Gln338Ter)	SNV Germline	Chr11:66523784	Pathogenic	Bardet-Biedl syndrome 1 Bardet-Biedl syndrome	Criteria Provided Single Submitter	CA351665	rs_869025205	2 SubmittersRCV000207577 RCV001225677
NM_024649.5(BBS1):c.416G>A (p.Trp139Ter)	SNV Germline	Chr11:66514662	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome Bardet-Biedl syndrome 1 BBS1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA10582948	rs_878855095	4 SubmittersRCV000230074 RCV000778336 RCV004742345
NM_024649.5(BBS1):c.1626A>G (p.Pro542=)	SNV Germline	Chr11:66531673	Conflicting classifications of pathogenicity	not specified Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA6123842	rs_780444865	3 SubmittersRCV000252168 RCV001455481
NM_024649.5(BBS1):c.1338C>T (p.Thr446=)	SNV Germline	Chr11:66526806	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome 1 Bardet-Biedl syndrome BBS1-related disorder	Criteria Provided Conflicting Classifications	CA6123698	rs_368302072	5 SubmittersRCV000392499 RCV001104457 RCV001084455 RCV003947896
NM_024649.5(BBS1):c.1595G>A (p.Arg532Gln)	SNV Germline	Chr11:66531015	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome 1 Bardet-Biedl syndrome Inborn genetic diseases BBS1-related disorder	Criteria Provided Conflicting Classifications	CA6123822	rs_142648652	8 SubmittersRCV000387351 RCV001107215 RCV002521944 RCV004021188 RCV003409412
NM_024649.5(BBS1):c.48-9C>A	SNV Germline	Chr11:66511004	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome BBS1-related disorder	Criteria Provided Conflicting Classifications	CA6123218	rs_765571574	3 SubmittersRCV000360947 RCV001491811 RCV003957524
NM_024649.5(BBS1):c.432+13C>T	SNV Germline	Chr11:66514691	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 1 Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA6123326	rs_759287238	3 SubmittersRCV000709656 RCV002056217
NM_024649.5(BBS1):c.447C>T (p.Pro149=)	SNV Germline	Chr11:66515554	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 1 Bardet-Biedl syndrome Retinal dystrophy BBS1-related disorder	Criteria Provided Conflicting Classifications	CA6123348	rs_763738657	4 SubmittersRCV000372823 RCV001435806 RCV003888719 RCV004742378
NM_024649.5(BBS1):c.6C>T (p.Ala2=)	SNV Germline	Chr11:66510665	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Bardet-Biedl syndrome 1 BBS1-related disorder	Criteria Provided Conflicting Classifications	CA6123176	rs_143592479	4 SubmittersRCV000360531 RCV001093962 RCV003950027
NM_024649.5(BBS1):c.981C>T (p.Pro327=)	SNV Germline	Chr11:66523753	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome not specified Bardet-Biedl syndrome 1	Criteria Provided Conflicting Classifications	CA6123583	rs_142243482	4 SubmittersRCV000287545 RCV001820904 RCV001093955
NM_024649.5(BBS1):c.1110+15C>T	SNV Germline	Chr11:66523897	Conflicting classifications of pathogenicity	not specified Bardet-Biedl syndrome 1 Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA6123614	rs_371084544	3 SubmittersRCV000780954 RCV000403380 RCV002056218
NM_024649.5(BBS1):c.1194C>A (p.Ile398=)	SNV Germline	Chr11:66526662	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Bardet-Biedl syndrome 1 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA6123670	rs_200577824	4 SubmittersRCV000299774 RCV001093965 RCV003888720
NM_024649.5(BBS1):c.636C>T (p.Asp212=)	SNV Germline	Chr11:66519661	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 1 Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA6123435	rs_775900681	2 SubmittersRCV000275971 RCV001456320
NM_024649.5(BBS1):c.830+12C>T	SNV Germline	Chr11:66521388	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 1 Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA6123510	rs_781283997	2 SubmittersRCV000345901 RCV001497924
NM_024649.5(BBS1):c.1744G>A (p.Val582Ile)	SNV Germline	Chr11:66531999	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Bardet-Biedl syndrome 1 BBS1-related disorder	Criteria Provided Conflicting Classifications	CA6123882	rs_111358560	5 SubmittersRCV000387176 RCV001094040 RCV003409471
NM_024649.5(BBS1):c.48-2A>C	SNV Germline	Chr11:66511011	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 1 Bardet-Biedl syndrome	Criteria Provided Multiple Submitters No Conflicts	CA6123222	rs_764245266	5 SubmittersRCV000409451 RCV001377426
NM_024649.5(BBS1):c.124+1G>C	SNV Germline	Chr11:66511090	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 1 Bardet-Biedl syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16041518	rs_1057516449	3 SubmittersRCV000411354 RCV003522961
NM_024649.5(BBS1):c.159+2T>A	SNV Unknown	Chr11:66511241	Likely pathogenic	Bardet-Biedl syndrome 1	No Assertion Criteria Provided	CA16041519	rs_1057516507	1 SubmittersRCV000410043
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln)	SNV Germline	Chr11:66515586	Pathogenic	Retinitis pigmentosa Bardet-Biedl syndrome 1 Condition: not provided Bardet-Biedl syndrome Retinal dystrophy BBS1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA6123351	rs_376894444	17 SubmittersRCV000504813 RCV000411434 RCV001092069 RCV001387773 RCV001074216 RCV003922662
NM_024649.5(BBS1):c.480-1G>C	SNV Unknown	Chr11:66515692	Pathogenic	Bardet-Biedl syndrome 1	Criteria Provided Single Submitter	CA16041522	rs_1057516933	2 SubmittersRCV000409654
NM_024649.5(BBS1):c.519-2A>G	SNV Unknown	Chr11:66515859	Likely pathogenic	Bardet-Biedl syndrome 1	No Assertion Criteria Provided	CA16041523	rs_1057516502	1 SubmittersRCV000411894
NM_024649.5(BBS1):c.831-2A>G	SNV Germline	Chr11:66523454	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome Bardet-Biedl syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16041525	rs_1057517332	5 SubmittersRCV000410589 RCV000709658 RCV001532648
NM_024649.5(BBS1):c.855C>A (p.Cys285Ter)	SNV Germline	Chr11:66523480	Pathogenic	Bardet-Biedl syndrome 1 Bardet-Biedl syndrome	Criteria Provided Single Submitter	CA16041526	rs_1057516427	2 SubmittersRCV000411176 RCV002523851
NM_024649.5(BBS1):c.871C>T (p.Gln291Ter)	SNV Germline	Chr11:66523496	Pathogenic	Bardet-Biedl syndrome 1 Bardet-Biedl syndrome BBS1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA16041527	rs_1057517143	5 SubmittersRCV000410229 RCV001239133 RCV003409566
NM_024649.5(BBS1):c.951+1G>A	SNV Germline	Chr11:66523577	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 1 Bardet-Biedl syndrome Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA6123554	rs_746875134	10 SubmittersRCV000410778 RCV000735921 RCV002248642 RCV004816633
NM_024649.5(BBS1):c.952-1G>A	SNV Germline	Chr11:66523723	Likely pathogenic	Bardet-Biedl syndrome 1 Bardet-Biedl syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16041528	rs_1057516661	5 SubmittersRCV000410767 RCV001850947
NM_024649.5(BBS1):c.1147C>T (p.Arg383Trp)	SNV Germline	Chr11:66526159	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome 1 Bardet-Biedl syndrome BBS1-related disorder	Criteria Provided Conflicting Classifications	CA6123638	rs_143495423	6 SubmittersRCV000442981 RCV001274037 RCV001309601 RCV003392248
NM_024649.5(BBS1):c.616T>G (p.Leu206Val)	SNV Germline	Chr11:66519641	Conflicting classifications of pathogenicity	not specified Condition: not provided Bardet-Biedl syndrome Bardet-Biedl syndrome 1 BBS1-related disorder	Criteria Provided Conflicting Classifications	CA6123433	rs_146052054	6 SubmittersRCV000455067 RCV000726642 RCV001081824 RCV001107785 RCV003902629
NM_024649.5(BBS1):c.1240G>T (p.Glu414Ter)	SNV Germline	Chr11:66526708	Pathogenic	Bardet-Biedl syndrome Bardet-Biedl syndrome 1	Criteria Provided Single Submitter	CA16613438	rs_1060503690	2 SubmittersRCV000466299 RCV000984148
NM_024649.5(BBS1):c.794C>A (p.Ala265Glu)	SNV Germline	Chr11:66521340	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Bardet-Biedl syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA16613498	rs_372939761	3 SubmittersRCV000464697 RCV001809414 RCV004787739
NM_024649.5(BBS1):c.437G>A (p.Arg146Gln)	SNV Germline	Chr11:66515544	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Bardet-Biedl syndrome 1 Retinal dystrophy Inborn genetic diseases BBS1-related disorder	Criteria Provided Conflicting Classifications	CA6123344	rs_759253107	5 SubmittersRCV000472989 RCV001828486 RCV003889901 RCV002525625 RCV004742430
NM_024649.5(BBS1):c.744C>T (p.Pro248=)	SNV Germline	Chr11:66521290	Conflicting classifications of pathogenicity	not specified Bardet-Biedl syndrome Bardet-Biedl syndrome 1	Criteria Provided Conflicting Classifications	CA6123479	rs_528073027	3 SubmittersRCV000502549 RCV000862610 RCV001274035
NM_024649.5(BBS1):c.952-1G>C	SNV Germline	Chr11:66523723	Pathogenic	Bardet-Biedl syndrome 1	Criteria Provided Single Submitter	CA381461962	rs_1057516661	1 SubmittersRCV000503709
NM_024649.5(BBS1):c.1181G>A (p.Gly394Asp)	SNV Germline	Chr11:66526649	Conflicting classifications of pathogenicity	not specified Condition: not provided Bardet-Biedl syndrome 1 Bardet-Biedl syndrome BBS1-related disorder	Criteria Provided Conflicting Classifications	CA6123669	rs_141528309	7 SubmittersRCV000500220 RCV000726690 RCV001274039 RCV001086879 RCV003979884
NM_024649.5(BBS1):c.952G>A (p.Gly318Arg)	SNV Germline	Chr11:66523724	Pathogenic/Likely pathogenic	Condition: not provided Bardet-Biedl syndrome 1 Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA381461967	rs_1555048487	3 SubmittersRCV000513191 RCV000674877 RCV001199648
NM_024649.5(BBS1):c.1277A>G (p.Asn426Ser)	SNV Germline	Chr11:66526745	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Bardet-Biedl syndrome 1 Inborn genetic diseases Retinal dystrophy BBS1-related disorder	Criteria Provided Conflicting Classifications	CA6123687	rs_755782127	7 SubmittersRCV000551663 RCV001834775 RCV002528349 RCV003889922 RCV004742490
NM_024649.5(BBS1):c.1585T>G (p.Ser529Ala)	SNV Germline	Chr11:66531005	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Bardet-Biedl syndrome 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA381425552	rs_1316472200	4 SubmittersRCV000547894 RCV001834776 RCV005520302
NM_024649.5(BBS1):c.41C>G (p.Ala14Gly)	SNV Germline	Chr11:66510700	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA381453346	rs_774110999	2 SubmittersRCV000585181 RCV001199647
NM_024649.5(BBS1):c.1059A>G (p.Gly353=)	SNV Germline	Chr11:66523831	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA6123599	rs_199692416	2 SubmittersRCV000592292 RCV001085017
NM_024649.5(BBS1):c.1743C>T (p.His581=)	SNV Germline	Chr11:66531998	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome BBS1-related disorder	Criteria Provided Conflicting Classifications	CA6123881	rs_61890368	3 SubmittersRCV000598276 RCV001479055 RCV003900344
NM_024649.5(BBS1):c.858C>T (p.Ile286=)	SNV Germline	Chr11:66523483	Conflicting classifications of pathogenicity	Condition: not provided BBS1-related disorder Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA6123536	rs_746775716	3 SubmittersRCV000593860 RCV003935622 RCV001455889
NM_024649.5(BBS1):c.1339G>A (p.Ala447Thr)	SNV Germline	Chr11:66526807	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome Condition: not provided Inborn genetic diseases Bardet-Biedl syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA6123700	rs_200116631	7 SubmittersRCV000638357 RCV003313119 RCV001267196 RCV002483815
NM_024649.5(BBS1):c.48-1G>T	SNV Germline	Chr11:66511012	Pathogenic	Bardet-Biedl syndrome 1 Bardet-Biedl syndrome	Criteria Provided Single Submitter	CA381453466	rs_751753112	2 SubmittersRCV000666501 RCV001861753
NM_024649.5(BBS1):c.124+1G>A	SNV Germline	Chr11:66511090	Pathogenic	Bardet-Biedl syndrome 1	Criteria Provided Single Submitter	CA381453909	rs_1057516449	2 SubmittersRCV000673570
NM_024649.5(BBS1):c.433-2A>G	SNV Unknown	Chr11:66515538	Likely pathogenic	Bardet-Biedl syndrome 1	Criteria Provided Single Submitter	CA381457281	rs_1555046748	2 SubmittersRCV000675034
NM_024649.5(BBS1):c.518+1G>A	SNV Unknown	Chr11:66515732	Likely pathogenic	Bardet-Biedl syndrome 1	No Assertion Criteria Provided	CA6123388	rs_771517209	1 SubmittersRCV000667863
NM_024649.5(BBS1):c.664G>C (p.Gly222Arg)	SNV Germline	Chr11:66519689	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 1 Bardet-Biedl syndrome Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA6123439	rs_761760689	3 SubmittersRCV000670649 RCV001861797 RCV001724126
NM_024649.5(BBS1):c.724-1G>C	SNV Germline	Chr11:66521269	Pathogenic	Bardet-Biedl syndrome 1 Bardet-Biedl syndrome	Criteria Provided Multiple Submitters No Conflicts	CA6123471	rs_748523268	3 SubmittersRCV000667597 RCV001377611
NM_024649.5(BBS1):c.1609-2A>T	SNV Unknown	Chr11:66531654	Likely pathogenic	Bardet-Biedl syndrome 1	No Assertion Criteria Provided	CA381425789	rs_1555050394	1 SubmittersRCV000674900
NM_024649.5(BBS1):c.1695G>A (p.Lys565=)	SNV Unknown	Chr11:66531742	Likely pathogenic	Bardet-Biedl syndrome 1 Bardet-Biedl syndrome	Criteria Provided Single Submitter	CA475342328	rs_1555050427	2 SubmittersRCV000673043 RCV003222093
NM_024649.5(BBS1):c.1318C>T (p.Arg440Ter)	SNV Germline	Chr11:66526786	Pathogenic	Bardet-Biedl syndrome 1 Bardet-Biedl syndrome	Criteria Provided Multiple Submitters No Conflicts	CA224047703	rs_1014835928	5 SubmittersRCV000667051 RCV001060606
NM_024649.5(BBS1):c.1717C>T (p.Gln573Ter)	SNV Germline	Chr11:66531972	Likely pathogenic	Bardet-Biedl syndrome 1	Criteria Provided Single Submitter	CA381426516	rs_1450045618	2 SubmittersRCV000674193
NM_024649.5(BBS1):c.47+2T>C	SNV Unknown	Chr11:66510708	Likely pathogenic	Bardet-Biedl syndrome 1	No Assertion Criteria Provided	CA381453393	rs_1182864166	1 SubmittersRCV000668745
NM_024649.5(BBS1):c.1340-1G>T	SNV Germline	Chr11:66529818	Pathogenic	Bardet-Biedl syndrome 1 Bardet-Biedl syndrome	Criteria Provided Multiple Submitters No Conflicts	CA381423850	rs_1555049893	3 SubmittersRCV000669016 RCV003523008
NM_024649.5(BBS1):c.1A>C (p.Met1Leu)	SNV Unknown	Chr11:66510660	Likely pathogenic	Bardet-Biedl syndrome 1	No Assertion Criteria Provided	CA381453160	rs_1306821707	1 SubmittersRCV000671318
NM_024649.5(BBS1):c.1A>T (p.Met1Leu)	SNV Germline	Chr11:66510660	Pathogenic	Bardet-Biedl syndrome 1 Bardet-Biedl syndrome	Criteria Provided Single Submitter	CA381453162	rs_1306821707	2 SubmittersRCV000669884 RCV001855530
NM_024649.5(BBS1):c.479+2T>G	SNV Germline	Chr11:66515588	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 1 Bardet-Biedl syndrome	Criteria Provided Multiple Submitters No Conflicts	CA381457393	rs_1353098253	5 SubmittersRCV000666424 RCV001868212
NM_024649.5(BBS1):c.1110G>A (p.Pro370=)	SNV Germline	Chr11:66523882	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 1 Bardet-Biedl syndrome Condition: not provided BBS1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA6123610	rs_183771956	6 SubmittersRCV000668784 RCV001377153 RCV001756134 RCV004723052
NM_024649.5(BBS1):c.1405C>T (p.Gln469Ter)	SNV Germline	Chr11:66529884	Pathogenic	Bardet-Biedl syndrome 1 Bardet-Biedl syndrome	Criteria Provided Single Submitter	CA381423981	rs_1565289799	2 SubmittersRCV000678523 RCV003633533
NM_024649.5(BBS1):c.1125C>G (p.Ser375Arg)	SNV Germline	Chr11:66526137	Likely pathogenic	Bardet-Biedl syndrome	Criteria Provided Single Submitter	CA381422148	rs_1565287512	2 SubmittersRCV000735916
NM_024649.5(BBS1):c.1177C>T (p.Arg393Ter)	SNV Germline	Chr11:66526189	Pathogenic	Bardet-Biedl syndrome Retinitis pigmentosa Bardet-Biedl syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA381422342	rs_1160669210	3 SubmittersRCV000735917 RCV001724144 RCV003106027
NM_024649.5(BBS1):c.1473+4A>G	SNV Germline	Chr11:66529956	Pathogenic	Bardet-Biedl syndrome Condition: not provided	Criteria Provided Single Submitter	CA599866559	rs_1486200900	3 SubmittersRCV000735918 RCV000787533
NM_024649.5(BBS1):c.1694A>G (p.Lys565Arg)	SNV Germline	Chr11:66531741	Pathogenic	Bardet-Biedl syndrome	No Assertion Criteria Provided	CA381426274	rs_1565291081	1 SubmittersRCV000735919
NM_024649.5(BBS1):c.1110+2T>G	SNV Germline	Chr11:66523884	Likely pathogenic	Condition: not provided Bardet-Biedl syndrome	Criteria Provided Single Submitter	CA381463104	rs_1565286223	2 SubmittersRCV000722672 RCV001862123
NM_024649.5(BBS1):c.1100T>A (p.Ile367Asn)	SNV Germline	Chr11:66523872	Likely pathogenic	Bardet-Biedl syndrome 1	Criteria Provided Single Submitter	CA381462776	rs_1565286202	1 SubmittersRCV000761258
NM_024649.5(BBS1):c.46A>T (p.Ser16Cys)	SNV Germline	Chr11:66510705	Likely pathogenic	Bardet-Biedl syndrome Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA6123193	rs_772917364	2 SubmittersRCV000782273 RCV004817985
NM_024649.5(BBS1):c.1110+3G>C	SNV Germline	Chr11:66523885	Pathogenic	Bardet-Biedl syndrome Retinitis pigmentosa Bardet-Biedl syndrome 1	Criteria Provided Single Submitter	CA224077259	rs_762276925	3 SubmittersRCV000787532 RCV000787786 RCV005606710
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn)	SNV Germline	Chr11:66515549	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Bardet-Biedl syndrome 1 Condition: not provided BBS1-related disorder	Criteria Provided Conflicting Classifications	CA6123346	rs_200688985	14 SubmittersRCV000799690 RCV001272375 RCV002275136 RCV003938167
NM_024649.5(BBS1):c.1447C>T (p.Arg483Ter)	SNV Germline	Chr11:66529926	Pathogenic	Bardet-Biedl syndrome Bardet-Biedl syndrome 1 Condition: not provided Inborn genetic diseases Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA6123770	rs_745656125	8 SubmittersRCV000804705 RCV001273360 RCV003128709 RCV002534792 RCV004818039
NM_024649.5(BBS1):c.840G>C (p.Lys280Asn)	SNV Germline	Chr11:66523465	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Condition: not provided Bardet-Biedl syndrome 1 BBS1-related disorder	Criteria Provided Conflicting Classifications	CA6123532	rs_780169168	5 SubmittersRCV000860723 RCV001356892 RCV001835987 RCV004742655
NM_024649.5(BBS1):c.243G>A (p.Pro81=)	SNV Germline	Chr11:66514489	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Bardet-Biedl syndrome 1	Criteria Provided Conflicting Classifications	CA6123295	rs_141429900	2 SubmittersRCV000864554 RCV001107114
NM_024649.5(BBS1):c.1383A>G (p.Leu461=)	SNV Germline	Chr11:66529862	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 1 Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA6123751	rs_557739576	2 SubmittersRCV001107213 RCV001473644
NM_024649.5(BBS1):c.1634A>G (p.Asn545Ser)	SNV Germline	Chr11:66531681	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Bardet-Biedl syndrome 1 Condition: not provided BBS1-related ciliopathy BBS1-related disorder Retinal dystrophy	Criteria Provided Conflicting Classifications	CA6123843	rs_148948642	8 SubmittersRCV000866224 RCV001107216 RCV001772161 RCV005367601 RCV003938274 RCV003889995
NM_024649.5(BBS1):c.1608+1G>A	SNV Germline	Chr11:66531029	Pathogenic/Likely pathogenic	Retinitis pigmentosa Bardet-Biedl syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA381425686	rs_1856758582	3 SubmittersRCV001199431 RCV002481807
NM_024649.5(BBS1):c.68G>A (p.Trp23Ter)	SNV Germline	Chr11:66511033	Pathogenic	Bardet-Biedl syndrome Bardet-Biedl syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA6123228	rs_778850233	3 SubmittersRCV001045107 RCV003461466
NM_024649.5(BBS1):c.235G>T (p.Glu79Ter)	SNV Germline	Chr11:66514481	Pathogenic	Bardet-Biedl syndrome	Criteria Provided Single Submitter	CA381456081	rs_138744839	1 SubmittersRCV001056484
NM_024649.5(BBS1):c.901G>A (p.Val301Ile)	SNV Germline	Chr11:66523526	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Bardet-Biedl syndrome 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA224077094	rs_1037134217	4 SubmittersRCV001044568 RCV001836081 RCV005298678
NM_024649.5(BBS1):c.1111-2A>G	SNV Germline	Chr11:66526121	Likely pathogenic	Bardet-Biedl syndrome Bardet-Biedl syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA381422083	rs_761969357	4 SubmittersRCV001035665 RCV001832373
NM_024649.5(BBS1):c.1638C>A (p.Tyr546Ter)	SNV Germline	Chr11:66531685	Likely pathogenic	Retinal dystrophy	Criteria Provided Single Submitter	CA381425978	rs_1856787758	1 SubmittersRCV001073740
NM_024649.5(BBS1):c.1682C>G (p.Ser561Ter)	SNV Germline	Chr11:66531729	Likely pathogenic	Retinal dystrophy Bardet-Biedl syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA381426214	rs_1856790811	2 SubmittersRCV001073857 RCV003462629
NM_024649.5(BBS1):c.1473+2T>C	SNV Germline	Chr11:66529954	Pathogenic/Likely pathogenic	Retinal dystrophy Bardet-Biedl syndrome	Criteria Provided Multiple Submitters No Conflicts	CA381424183	rs_1856699646	2 SubmittersRCV001074148 RCV003523058
NM_024649.5(BBS1):c.441C>T (p.Ile147=)	SNV Germline	Chr11:66515548	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 1 Bardet-Biedl syndrome BBS1-related disorder	Criteria Provided Conflicting Classifications	CA6123345	rs_544997496	4 SubmittersRCV001107116 RCV001396142 RCV003973074
NM_024649.5(BBS1):c.867C>T (p.Ser289=)	SNV Germline	Chr11:66523492	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 1 Bardet-Biedl syndrome BBS1-related disorder	Criteria Provided Conflicting Classifications	CA6123538	rs_776322401	3 SubmittersRCV001104147 RCV001494875 RCV004743292
NM_024649.5(BBS1):c.1371C>T (p.Tyr457=)	SNV Germline	Chr11:66529850	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 1 Bardet-Biedl syndrome BBS1-related disorder	Criteria Provided Conflicting Classifications	CA6123748	rs_781014949	4 SubmittersRCV001104458 RCV001505737 RCV003918681
NM_024649.5(BBS1):c.363C>A (p.Tyr121Ter)	SNV Germline	Chr11:66514609	Pathogenic	Bardet-Biedl syndrome 1 Condition: not provided	No Assertion Criteria Provided	CA381456889	rs_1856010874	3 SubmittersRCV001175185 RCV001699516
NM_024649.5(BBS1):c.830+2T>C	SNV Germline	Chr11:66521378	Likely pathogenic	Bardet-Biedl syndrome 1 BBS1-related disorder	No Assertion Criteria Provided	CA381459668	rs_1856209722	2 SubmittersRCV001175184 RCV004726919
NM_024649.5(BBS1):c.951+58C>T	SNV Germline	Chr11:66523634	Pathogenic	Bardet-Biedl syndrome 1 Bardet-Biedl syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA1139662036	rs_1856346961	5 SubmittersRCV001175186 RCV002555443 RCV003322856
NM_024649.5(BBS1):c.217G>T (p.Gly73Ter)	SNV Germline	Chr11:66514463	Pathogenic	Bardet-Biedl syndrome Condition: not provided Bardet-Biedl syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA381455944	rs_1012901050	3 SubmittersRCV001213374 RCV002561812 RCV003462716
NM_024649.5(BBS1):c.417G>A (p.Trp139Ter)	SNV Germline	Chr11:66514663	Pathogenic	Bardet-Biedl syndrome	Criteria Provided Single Submitter	CA381457173	rs_1856011993	1 SubmittersRCV001209548
NM_024649.5(BBS1):c.480-2A>C	SNV Germline	Chr11:66515691	Likely pathogenic	Bardet-Biedl syndrome Bardet-Biedl syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA381457395	rs_1856035426	2 SubmittersRCV001246287 RCV005050312
NM_024649.5(BBS1):c.723+1G>C	SNV Germline	Chr11:66519749	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome Bardet-Biedl syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA381459058	rs_1295318869	3 SubmittersRCV001242050 RCV003462818
NM_024649.5(BBS1):c.71T>A (p.Leu24Ter)	SNV Unknown	Chr11:66511036	Likely pathogenic	Bardet-Biedl syndrome 1	Criteria Provided Single Submitter	CA381453606	rs_1855932058	1 SubmittersRCV001263833
NM_024649.5(BBS1):c.214A>T (p.Lys72Ter)	SNV Unknown	Chr11:66514460	Likely pathogenic	Bardet-Biedl syndrome 1	Criteria Provided Single Submitter	CA381455931	rs_1856007963	1 SubmittersRCV001263834
NM_024649.5(BBS1):c.406C>T (p.Gln136Ter)	SNV Germline	Chr11:66514652	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 1 Bardet-Biedl syndrome	Criteria Provided Multiple Submitters No Conflicts	CA381457126	rs_1856011738	3 SubmittersRCV001263835 RCV005057180
NM_024649.5(BBS1):c.700G>T (p.Glu234Ter)	SNV Unknown	Chr11:66519725	Likely pathogenic	Bardet-Biedl syndrome 1	Criteria Provided Single Submitter	CA381458968	rs_35520756	1 SubmittersRCV001263836
NM_024649.5(BBS1):c.965G>A (p.Trp322Ter)	SNV Unknown	Chr11:66523737	Likely pathogenic	Bardet-Biedl syndrome 1	Criteria Provided Single Submitter	CA381462034	rs_1856354695	1 SubmittersRCV001264002
NM_024649.5(BBS1):c.1009G>T (p.Glu337Ter)	SNV Unknown	Chr11:66523781	Likely pathogenic	Bardet-Biedl syndrome 1	Criteria Provided Single Submitter	CA381462265	rs_1856358703	1 SubmittersRCV001264003
NM_024649.5(BBS1):c.1143C>A (p.Tyr381Ter)	SNV Unknown	Chr11:66526155	Likely pathogenic	Bardet-Biedl syndrome 1	Criteria Provided Single Submitter	CA381422211	rs_1021331909	1 SubmittersRCV001264004
NM_024649.5(BBS1):c.1198A>T (p.Lys400Ter)	SNV Unknown	Chr11:66526666	Likely pathogenic	Bardet-Biedl syndrome 1	Criteria Provided Single Submitter	CA381422454	rs_1421044140	1 SubmittersRCV001264005
NM_024649.5(BBS1):c.1205T>C (p.Leu402Pro)	SNV Germline	Chr11:66526673	Conflicting classifications of pathogenicity	Retinal dystrophy Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA6123674	rs_767150997	3 SubmittersRCV001270354 RCV001880202
NM_024649.5(BBS1):c.951+1G>T	SNV Unknown	Chr11:66523577	Pathogenic	Bardet-Biedl syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA381461899	rs_746875134	2 SubmittersRCV001329988
NM_024649.5(BBS1):c.1181-9C>G	SNV Germline	Chr11:66526640	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome Bardet-Biedl syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA1979711666	rs_769820955	2 SubmittersRCV001340368 RCV004570814
NM_024649.5(BBS1):c.382C>T (p.Gln128Ter)	SNV Germline	Chr11:66514628	Pathogenic	Bardet-Biedl syndrome Bardet-Biedl syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA381456987	rs_2134771570	3 SubmittersRCV001387771 RCV003463020 RCV004699361
NM_024649.5(BBS1):c.421C>T (p.Gln141Ter)	SNV Germline	Chr11:66514667	Pathogenic	Bardet-Biedl syndrome	Criteria Provided Single Submitter	CA381457203	rs_2134771631	1 SubmittersRCV001383137
NM_024649.5(BBS1):c.830G>A (p.Arg277Lys)	SNV Germline	Chr11:66521376	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome	Criteria Provided Multiple Submitters No Conflicts	CA381459651	rs_1856209517	2 SubmittersRCV001388588
NM_024649.5(BBS1):c.1261C>T (p.Gln421Ter)	SNV Germline	Chr11:66526729	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome Bardet-Biedl syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA381422701	rs_1856520165	2 SubmittersRCV001388071 RCV005050371
NM_024649.5(BBS1):c.1657G>T (p.Glu553Ter)	SNV Germline	Chr11:66531704	Pathogenic	Bardet-Biedl syndrome	Criteria Provided Single Submitter	CA381426103	rs_1856788934	1 SubmittersRCV001390868
NM_024649.5(BBS1):c.589C>T (p.Gln197Ter)	SNV Germline	Chr11:66515931	Pathogenic	Condition: not provided Bardet-Biedl syndrome	Criteria Provided Single Submitter	CA381457647	rs_777143614	3 SubmittersRCV001700570 RCV003222339
NM_024649.5(BBS1):c.1473+2T>G	SNV Germline	Chr11:66529954	Likely pathogenic	Retinitis pigmentosa	Criteria Provided Single Submitter	CA381424184	rs_1856699646	1 SubmittersRCV001724834
NM_024649.5(BBS1):c.48-1G>A	SNV Germline	Chr11:66511012	Pathogenic	Bardet-Biedl syndrome 1 Bardet-Biedl syndrome Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA6123223	rs_751753112	4 SubmittersRCV001730053 RCV001882796 RCV004815608
NM_024649.5(BBS1):c.47+1G>T	SNV Germline	Chr11:66510707	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 1 Bardet-Biedl syndrome	Criteria Provided Multiple Submitters No Conflicts	CA381453388	rs_1475257145	3 SubmittersRCV001780997 RCV003523108
NM_024649.5(BBS1):c.890G>A (p.Arg297Gln)	SNV Germline	Chr11:66523515	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome not specified Bardet-Biedl syndrome 1	Criteria Provided Conflicting Classifications	CA6123543	rs_372092113	3 SubmittersRCV001888311 RCV003155436 RCV005050436
NM_024649.5(BBS1):c.1695+1G>A	SNV Germline	Chr11:66531743	Pathogenic	Bardet-Biedl syndrome	Criteria Provided Single Submitter	CA381426282	rs_2134841394	1 SubmittersRCV001980127
NM_024649.5(BBS1):c.1708C>T (p.Arg570Ter)	SNV Germline	Chr11:66531963	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome Bardet-Biedl syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA381426480	rs_1434577015	3 SubmittersRCV002029113 RCV003138033
NM_024649.5(BBS1):c.1516C>T (p.Gln506Ter)	SNV Germline	Chr11:66530936	Pathogenic	Bardet-Biedl syndrome	Criteria Provided Single Submitter	CA381425209	rs_2134836882	1 SubmittersRCV002035351
NM_024649.5(BBS1):c.1474-1G>A	SNV Germline	Chr11:66530893	Likely pathogenic	Bardet-Biedl syndrome BBS1-related disorder	Criteria Provided Single Submitter	CA381424929	rs_2134836650	2 SubmittersRCV001985950 RCV004729009
NM_024649.5(BBS1):c.1110+1G>C	SNV Germline	Chr11:66523883	Likely pathogenic	Bardet-Biedl syndrome	Criteria Provided Single Submitter	CA381463095	rs_2134797993	1 SubmittersRCV002036324
NM_024649.5(BBS1):c.1A>G (p.Met1Val)	SNV Germline	Chr11:66510660	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome Bardet-Biedl syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA381453161	rs_1306821707	2 SubmittersRCV001953605 RCV005050484
NM_024649.5(BBS1):c.1110+329C>T	SNV Germline	Chr11:66524211	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Bardet-Biedl syndrome 1	Criteria Provided Conflicting Classifications	CA224077368	rs_571170303	4 SubmittersRCV002271752 RCV003464425
NM_024649.5(BBS1):c.966G>A (p.Trp322Ter)	SNV Unknown	Chr11:66523738	Likely pathogenic	Bardet-Biedl syndrome 1	Criteria Provided Single Submitter	CA381462042	rs_2495779138	1 SubmittersRCV002306786
NM_024649.5(BBS1):c.1498A>T (p.Lys500Ter)	SNV Unknown	Chr11:66530918	Likely pathogenic	Bardet-Biedl syndrome 1	Criteria Provided Single Submitter	CA381425083	rs_1445972147	1 SubmittersRCV002308058
NM_024649.5(BBS1):c.1097T>A (p.Val366Asp)	SNV Germline	Chr11:66523869	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome	Criteria Provided Multiple Submitters No Conflicts	CA381462747	rs_2495780320	2 SubmittersRCV003062412
NM_024649.5(BBS1):c.526C>T (p.Gln176Ter)	SNV Germline	Chr11:66515868	Pathogenic	Bardet-Biedl syndrome BBS1-related disorder Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA381457507	rs_777765120	3 SubmittersRCV003080656 RCV004744587 RCV005419565
NM_024649.5(BBS1):c.1076G>A (p.Arg359His)	SNV Germline	Chr11:66523848	Conflicting classifications of pathogenicity	Inborn genetic diseases Bardet-Biedl syndrome BBS1-related disorder Bardet-Biedl syndrome 1	Criteria Provided Conflicting Classifications	CA6123605	rs_147766972	4 SubmittersRCV003082997 RCV003090542 RCV003420345 RCV005050735
NM_024649.5(BBS1):c.1339+1G>A	SNV Germline	Chr11:66526808	Likely pathogenic	Bardet-Biedl syndrome	Criteria Provided Single Submitter	CA381422966	rs_2495802280	1 SubmittersRCV002774857
NM_024649.5(BBS1):c.2T>C (p.Met1Thr)	SNV Germline	Chr11:66510661	Pathogenic	Bardet-Biedl syndrome	Criteria Provided Single Submitter	CA381453164	rs_1222159281	1 SubmittersRCV002770915
NM_024649.5(BBS1):c.160-1G>A	SNV Germline	Chr11:66514405	Likely pathogenic	Bardet-Biedl syndrome	Criteria Provided Single Submitter	CA381455480	rs_2495736089	1 SubmittersRCV002814454
NM_024649.5(BBS1):c.1110+2T>C	SNV Germline	Chr11:66523884	Likely pathogenic	Bardet-Biedl syndrome	Criteria Provided Single Submitter	CA381463102	rs_1565286223	1 SubmittersRCV002838247
NM_024649.5(BBS1):c.159+1G>A	SNV Germline	Chr11:66511240	Likely pathogenic	Bardet-Biedl syndrome	Criteria Provided Single Submitter	CA381454191	rs_2495728996	1 SubmittersRCV002853300
NM_024649.5(BBS1):c.1401C>G (p.Tyr467Ter)	SNV Germline	Chr11:66529880	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome Bardet-Biedl syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA381423973	rs_2495830435	2 SubmittersRCV002881244 RCV004584235
NM_024649.5(BBS1):c.951+2T>A	SNV Germline	Chr11:66523578	Pathogenic	Bardet-Biedl syndrome	Criteria Provided Single Submitter	CA381461901	rs_1590766771	1 SubmittersRCV002900622
NM_024649.5(BBS1):c.3G>A (p.Met1Ile)	SNV Germline	Chr11:66510662	Pathogenic	Bardet-Biedl syndrome Bardet-Biedl syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA381453166	rs_1855918305	2 SubmittersRCV002923444 RCV005050662
NM_024649.5(BBS1):c.1577C>T (p.Ala526Val)	SNV Germline	Chr11:66530997	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Inborn genetic diseases BBS1-related disorder	Criteria Provided Conflicting Classifications	CA6123816	rs_759763673	3 SubmittersRCV002975456 RCV004068272 RCV004744510
NM_024649.5(BBS1):c.1180+1G>T	SNV Germline	Chr11:66526193	Likely pathogenic	Bardet-Biedl syndrome	Criteria Provided Single Submitter	CA6123648	rs_370132070	1 SubmittersRCV003026148
NM_024649.5(BBS1):c.723+2T>G	SNV Germline	Chr11:66519750	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome Bardet-Biedl syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA381459064	rs_2495752994	2 SubmittersRCV003019265 RCV003459699
NM_024649.5(BBS1):c.913G>A (p.Gly305Ser)	SNV Germline	Chr11:66523538	Likely pathogenic	Bardet-Biedl syndrome	Criteria Provided Single Submitter	CA224077108	rs_942862410	2 SubmittersRCV003388220
NM_024649.5(BBS1):c.951+1G>C	SNV Germline	Chr11:66523577	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 1 Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA6123553	rs_746875134	2 SubmittersRCV003338232 RCV003633707
NM_024649.5(BBS1):c.830+1G>T	SNV Unknown	Chr11:66521377	Likely pathogenic	Bardet-Biedl syndrome 1	Criteria Provided Single Submitter	CA6123507	rs_200335137	1 SubmittersRCV003465010
NM_024649.5(BBS1):c.723+1G>A	SNV Germline	Chr11:66519749	Likely pathogenic	Bardet-Biedl syndrome 1 Bardet-Biedl syndrome	Criteria Provided Multiple Submitters No Conflicts	CA381459059	rs_1295318869	2 SubmittersRCV003465016 RCV003523195
NM_024649.5(BBS1):c.591+1G>A	SNV Unknown	Chr11:66515934	Likely pathogenic	Bardet-Biedl syndrome 1	Criteria Provided Single Submitter	CA381457653	rs_2495741578	1 SubmittersRCV003465017
NM_024649.5(BBS1):c.723+2T>C	SNV Unknown	Chr11:66519750	Likely pathogenic	Bardet-Biedl syndrome 1	Criteria Provided Single Submitter	CA381459062	rs_2495752994	1 SubmittersRCV003465020
NM_024649.5(BBS1):c.951+2T>G	SNV Unknown	Chr11:66523578	Likely pathogenic	Bardet-Biedl syndrome 1	Criteria Provided Single Submitter	CA381461905	rs_1590766771	1 SubmittersRCV003465022
NM_024649.5(BBS1):c.47+2T>G	SNV Unknown	Chr11:66510708	Likely pathogenic	Bardet-Biedl syndrome 1	Criteria Provided Single Submitter	CA381453395	rs_1182864166	1 SubmittersRCV003465024
NM_024649.5(BBS1):c.449T>A (p.Leu150Ter)	SNV Germline	Chr11:66515556	Pathogenic	Bardet-Biedl syndrome	Criteria Provided Single Submitter	CA381457317	rs_2495739867	1 SubmittersRCV003523992
NM_024649.5(BBS1):c.830+2T>A	SNV Germline	Chr11:66521378	Likely pathogenic	Bardet-Biedl syndrome	Criteria Provided Single Submitter	CA381459666	rs_1856209722	1 SubmittersRCV003523980
NM_024649.5(BBS1):c.863T>G (p.Leu288Arg)	SNV Germline	Chr11:66523488	Pathogenic	Bardet-Biedl syndrome	Criteria Provided Single Submitter	CA381461421	rs_2495776917	1 SubmittersRCV003525327
NM_024649.5(BBS1):c.48-2A>G	SNV Germline	Chr11:66511011	Pathogenic	Bardet-Biedl syndrome	Criteria Provided Single Submitter	CA381453457	rs_764245266	1 SubmittersRCV003523633
NM_024649.5(BBS1):c.1181-1G>C	SNV Germline	Chr11:66526648	Likely pathogenic	Bardet-Biedl syndrome	Criteria Provided Single Submitter	CA381422392	rs_2495800494	1 SubmittersRCV003524471
NM_024649.5(BBS1):c.1125C>A (p.Ser375Arg)	SNV Germline	Chr11:66526137	Likely pathogenic	Bardet-Biedl syndrome	Criteria Provided Single Submitter	CA381422147	rs_1565287512	1 SubmittersRCV003524763
NM_024649.5(BBS1):c.1606A>T (p.Lys536Ter)	SNV Germline	Chr11:66531026	Pathogenic	Bardet-Biedl syndrome	Criteria Provided Single Submitter	CA381425669	rs_766218865	1 SubmittersRCV003524709
NM_024649.5(BBS1):c.1450G>T (p.Glu484Ter)	SNV Germline	Chr11:66529929	Pathogenic	Bardet-Biedl syndrome	Criteria Provided Single Submitter	CA381424082	rs_1416464603	1 SubmittersRCV003633127
NM_024649.5(BBS1):c.472A>G (p.Ser158Gly)	SNV Germline	Chr11:66515579	Likely pathogenic	Retinal dystrophy	Criteria Provided Single Submitter	CA381457371	rs_2495739948	1 SubmittersRCV003889602
NM_024649.5(BBS1):c.69G>A (p.Trp23Ter)	SNV Unknown	Chr11:66511034	Likely pathogenic	Bardet-Biedl syndrome 1	Criteria Provided Single Submitter		rs_2495728074	1 SubmittersRCV004573992
NM_024649.5(BBS1):c.592-1G>C	SNV Germline	Chr11:66519616	Likely pathogenic	BBS1-related disorder	No Assertion Criteria Provided			1 SubmittersRCV004742850
NM_024649.5(BBS1):c.2T>G (p.Met1Arg)	SNV Germline	Chr11:66510661	Pathogenic	Bardet-Biedl syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV005051045
NM_024649.5(BBS1):c.724-1G>A	SNV Germline	Chr11:66521269	Likely pathogenic	Bardet-Biedl syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV005051060
NM_024649.5(BBS1):c.1339+2T>A	SNV Germline	Chr11:66526809	Likely pathogenic	Bardet-Biedl syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV005051072
NM_024649.5(BBS1):c.159+1G>T	SNV Germline	Chr11:66511240	Likely pathogenic	Bardet-Biedl syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005115082
NM_024649.5(BBS1):c.859G>T (p.Glu287Ter)	SNV Germline	Chr11:66523484	Pathogenic	Bardet-Biedl syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005408302
NM_024649.5(BBS1):c.1608+1G>T	SNV Germline	Chr11:66531029	Likely pathogenic	Bardet-Biedl syndrome 1	No Assertion Criteria Provided			1 SubmittersRCV005614974

NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)

SNV
Germline

Chr11:66526181

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 1
Condition: not provided
Bardet-Biedl syndrome
Retinal dystrophy
Retinitis pigmentosa
Usher syndrome
See cases
BBS1-related disorder
Inborn genetic diseases
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA223760

rs_113624356

54 SubmittersRCV000012926 RCV000082202 RCV000174408 RCV000210319 RCV000504693 RCV000787785 RCV002251900 RCV003390672 RCV002513000 RCV005621849

NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter)

SNV
Germline

Chr11:66531692

Pathogenic

Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
Condition: not provided
Retinitis pigmentosa
Inborn genetic diseases
BBS1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA256226

rs_121917777

11 SubmittersRCV000012927 RCV000169202 RCV001008645 RCV001723562 RCV002513001 RCV003934827

NM_024649.5(BBS1):c.432+1G>A

SNV
Germline

Chr11:66514679

Pathogenic

Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
Condition: not provided
BBS1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA256228

rs_587777829

8 SubmittersRCV000012928 RCV000169013 RCV002225262 RCV004742225

NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro)

SNV
Germline

Chr11:66530973

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
Retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA256230

rs_121917778

9 SubmittersRCV000012930 RCV001055313 RCV001075155 RCV001753415

NM_024649.5(BBS1):c.1340-2A>G

SNV
Germline

Chr11:66529817

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 1

Criteria Provided
Conflicting Classifications

CA342396

rs_113994180

3 SubmittersRCV000020904 RCV003989297

NM_024649.5(BBS1):c.831-3C>G

SNV
Germline

Chr11:66523453

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 1

Criteria Provided
Conflicting Classifications

CA342397

rs_113994179

4 SubmittersRCV000020905 RCV000995705

NM_024649.5(BBS1):c.670G>A (p.Glu224Lys)

SNV
Germline

Chr11:66519695

Conflicting classifications of pathogenicity

Retinal dystrophy
Bardet-Biedl syndrome
Condition: not provided
Bardet-Biedl syndrome 1

Criteria Provided
Conflicting Classifications

CA260179

rs_193922709

9 SubmittersRCV001074387 RCV001228905 RCV001725934 RCV001835636

NM_024649.5(BBS1):c.1474-8C>T

SNV
Germline

Chr11:66530886

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
not specified

Criteria Provided
Conflicting Classifications

CA223761

rs_398124402

4 SubmittersRCV000082203 RCV001085650 RCV002467564 RCV005406812

NM_024649.5(BBS1):c.831-5C>T

SNV
Germline

Chr11:66523451

Conflicting classifications of pathogenicity

not specified
Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA149269

rs_56177555

10 SubmittersRCV000082205 RCV000861255 RCV001104146 RCV001573960 RCV002513848

NM_024649.5(BBS1):c.436C>T (p.Arg146Ter)

SNV
Germline

Chr11:66515543

Pathogenic

Bardet-Biedl syndrome
Condition: not provided
Bardet-Biedl syndrome 1
Retinal dystrophy
BBS1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA273912

rs_786204444

10 SubmittersRCV000169066 RCV000627244 RCV001272374 RCV004815258 RCV003398862

NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter)

SNV
Germline

Chr11:66526753

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Condition: not provided
Bardet-Biedl syndrome 1
BBS1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA274213

rs_768443448

14 SubmittersRCV000169362 RCV001092071 RCV000984149 RCV004742303

NM_024649.5(BBS1):c.24T>C (p.Asp8=)

SNV
Germline

Chr11:66510683

Conflicting classifications of pathogenicity

not specified
Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
BBS1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA200595

rs_55848325

13 SubmittersRCV000173529 RCV000709651 RCV000226235 RCV003891704 RCV003407641

NM_024649.5(BBS1):c.48-3C>G

SNV
Germline

Chr11:66511010

Pathogenic

Bardet-Biedl syndrome 1

No Assertion Criteria Provided

CA351676

rs_869025204

1 SubmittersRCV000207828

NM_024649.5(BBS1):c.1012C>T (p.Gln338Ter)

SNV
Germline

Chr11:66523784

Pathogenic

Bardet-Biedl syndrome 1
Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA351665

rs_869025205

2 SubmittersRCV000207577 RCV001225677

NM_024649.5(BBS1):c.416G>A (p.Trp139Ter)

SNV
Germline

Chr11:66514662

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
BBS1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10582948

rs_878855095

4 SubmittersRCV000230074 RCV000778336 RCV004742345

NM_024649.5(BBS1):c.1626A>G (p.Pro542=)

SNV
Germline

Chr11:66531673

Conflicting classifications of pathogenicity

not specified
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA6123842

rs_780444865

3 SubmittersRCV000252168 RCV001455481

NM_024649.5(BBS1):c.1338C>T (p.Thr446=)

SNV
Germline

Chr11:66526806

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
BBS1-related disorder

Criteria Provided
Conflicting Classifications

CA6123698

rs_368302072

5 SubmittersRCV000392499 RCV001104457 RCV001084455 RCV003947896

NM_024649.5(BBS1):c.1595G>A (p.Arg532Gln)

SNV
Germline

Chr11:66531015

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
Inborn genetic diseases
BBS1-related disorder

Criteria Provided
Conflicting Classifications

CA6123822

rs_142648652

8 SubmittersRCV000387351 RCV001107215 RCV002521944 RCV004021188 RCV003409412

NM_024649.5(BBS1):c.48-9C>A

SNV
Germline

Chr11:66511004

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome
BBS1-related disorder

Criteria Provided
Conflicting Classifications

CA6123218

rs_765571574

3 SubmittersRCV000360947 RCV001491811 RCV003957524

NM_024649.5(BBS1):c.432+13C>T

SNV
Germline

Chr11:66514691

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 1
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA6123326

rs_759287238

3 SubmittersRCV000709656 RCV002056217

NM_024649.5(BBS1):c.447C>T (p.Pro149=)

SNV
Germline

Chr11:66515554

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
Retinal dystrophy
BBS1-related disorder

Criteria Provided
Conflicting Classifications

CA6123348

rs_763738657

4 SubmittersRCV000372823 RCV001435806 RCV003888719 RCV004742378

NM_024649.5(BBS1):c.6C>T (p.Ala2=)

SNV
Germline

Chr11:66510665

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
BBS1-related disorder

Criteria Provided
Conflicting Classifications

CA6123176

rs_143592479

4 SubmittersRCV000360531 RCV001093962 RCV003950027

NM_024649.5(BBS1):c.981C>T (p.Pro327=)

SNV
Germline

Chr11:66523753

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
not specified
Bardet-Biedl syndrome 1

Criteria Provided
Conflicting Classifications

CA6123583

rs_142243482

4 SubmittersRCV000287545 RCV001820904 RCV001093955

NM_024649.5(BBS1):c.1110+15C>T

SNV
Germline

Chr11:66523897

Conflicting classifications of pathogenicity

not specified
Bardet-Biedl syndrome 1
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA6123614

rs_371084544

3 SubmittersRCV000780954 RCV000403380 RCV002056218

NM_024649.5(BBS1):c.1194C>A (p.Ile398=)

SNV
Germline

Chr11:66526662

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA6123670

rs_200577824

4 SubmittersRCV000299774 RCV001093965 RCV003888720

NM_024649.5(BBS1):c.636C>T (p.Asp212=)

SNV
Germline

Chr11:66519661

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 1
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA6123435

rs_775900681

2 SubmittersRCV000275971 RCV001456320

NM_024649.5(BBS1):c.830+12C>T

SNV
Germline

Chr11:66521388

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 1
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA6123510

rs_781283997

2 SubmittersRCV000345901 RCV001497924

NM_024649.5(BBS1):c.1744G>A (p.Val582Ile)

SNV
Germline

Chr11:66531999

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
BBS1-related disorder

Criteria Provided
Conflicting Classifications

CA6123882

rs_111358560

5 SubmittersRCV000387176 RCV001094040 RCV003409471

NM_024649.5(BBS1):c.48-2A>C

SNV
Germline

Chr11:66511011

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 1
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA6123222

rs_764245266

5 SubmittersRCV000409451 RCV001377426

NM_024649.5(BBS1):c.124+1G>C

SNV
Germline

Chr11:66511090

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 1
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16041518

rs_1057516449

3 SubmittersRCV000411354 RCV003522961

NM_024649.5(BBS1):c.159+2T>A

SNV
Unknown

Chr11:66511241

Likely pathogenic

Bardet-Biedl syndrome 1

No Assertion Criteria Provided

CA16041519

rs_1057516507

1 SubmittersRCV000410043

NM_024649.5(BBS1):c.479G>A (p.Arg160Gln)

SNV
Germline

Chr11:66515586

Pathogenic

Retinitis pigmentosa
Bardet-Biedl syndrome 1
Condition: not provided
Bardet-Biedl syndrome
Retinal dystrophy
BBS1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA6123351

rs_376894444

17 SubmittersRCV000504813 RCV000411434 RCV001092069 RCV001387773 RCV001074216 RCV003922662

NM_024649.5(BBS1):c.480-1G>C

SNV
Unknown

Chr11:66515692

Pathogenic

Bardet-Biedl syndrome 1

Criteria Provided
Single Submitter

CA16041522

rs_1057516933

2 SubmittersRCV000409654

NM_024649.5(BBS1):c.519-2A>G

SNV
Unknown

Chr11:66515859

Likely pathogenic

Bardet-Biedl syndrome 1

No Assertion Criteria Provided

CA16041523

rs_1057516502

1 SubmittersRCV000411894

NM_024649.5(BBS1):c.831-2A>G

SNV
Germline

Chr11:66523454

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16041525

rs_1057517332

5 SubmittersRCV000410589 RCV000709658 RCV001532648

NM_024649.5(BBS1):c.855C>A (p.Cys285Ter)

SNV
Germline

Chr11:66523480

Pathogenic

Bardet-Biedl syndrome 1
Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA16041526

rs_1057516427

2 SubmittersRCV000411176 RCV002523851

NM_024649.5(BBS1):c.871C>T (p.Gln291Ter)

SNV
Germline

Chr11:66523496

Pathogenic

Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
BBS1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA16041527

rs_1057517143

5 SubmittersRCV000410229 RCV001239133 RCV003409566

NM_024649.5(BBS1):c.951+1G>A

SNV
Germline

Chr11:66523577

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA6123554

rs_746875134

10 SubmittersRCV000410778 RCV000735921 RCV002248642 RCV004816633

NM_024649.5(BBS1):c.952-1G>A

SNV
Germline

Chr11:66523723

Likely pathogenic

Bardet-Biedl syndrome 1
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16041528

rs_1057516661

5 SubmittersRCV000410767 RCV001850947

NM_024649.5(BBS1):c.1147C>T (p.Arg383Trp)

SNV
Germline

Chr11:66526159

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
BBS1-related disorder

Criteria Provided
Conflicting Classifications

CA6123638

rs_143495423

6 SubmittersRCV000442981 RCV001274037 RCV001309601 RCV003392248

NM_024649.5(BBS1):c.616T>G (p.Leu206Val)

SNV
Germline

Chr11:66519641

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
BBS1-related disorder

Criteria Provided
Conflicting Classifications

CA6123433

rs_146052054

6 SubmittersRCV000455067 RCV000726642 RCV001081824 RCV001107785 RCV003902629

NM_024649.5(BBS1):c.1240G>T (p.Glu414Ter)

SNV
Germline

Chr11:66526708

Pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 1

Criteria Provided
Single Submitter

CA16613438

rs_1060503690

2 SubmittersRCV000466299 RCV000984148

NM_024649.5(BBS1):c.794C>A (p.Ala265Glu)

SNV
Germline

Chr11:66521340

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16613498

rs_372939761

3 SubmittersRCV000464697 RCV001809414 RCV004787739

NM_024649.5(BBS1):c.437G>A (p.Arg146Gln)

SNV
Germline

Chr11:66515544

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Retinal dystrophy
Inborn genetic diseases
BBS1-related disorder

Criteria Provided
Conflicting Classifications

CA6123344

rs_759253107

5 SubmittersRCV000472989 RCV001828486 RCV003889901 RCV002525625 RCV004742430

NM_024649.5(BBS1):c.744C>T (p.Pro248=)

SNV
Germline

Chr11:66521290

Conflicting classifications of pathogenicity

not specified
Bardet-Biedl syndrome
Bardet-Biedl syndrome 1

Criteria Provided
Conflicting Classifications

CA6123479

rs_528073027

3 SubmittersRCV000502549 RCV000862610 RCV001274035

NM_024649.5(BBS1):c.952-1G>C

SNV
Germline

Chr11:66523723

Pathogenic

Bardet-Biedl syndrome 1

Criteria Provided
Single Submitter

CA381461962

rs_1057516661

1 SubmittersRCV000503709

NM_024649.5(BBS1):c.1181G>A (p.Gly394Asp)

SNV
Germline

Chr11:66526649

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
BBS1-related disorder

Criteria Provided
Conflicting Classifications

CA6123669

rs_141528309

7 SubmittersRCV000500220 RCV000726690 RCV001274039 RCV001086879 RCV003979884

NM_024649.5(BBS1):c.952G>A (p.Gly318Arg)

SNV
Germline

Chr11:66523724

Pathogenic/Likely pathogenic

Condition: not provided
Bardet-Biedl syndrome 1
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA381461967

rs_1555048487

3 SubmittersRCV000513191 RCV000674877 RCV001199648

NM_024649.5(BBS1):c.1277A>G (p.Asn426Ser)

SNV
Germline

Chr11:66526745

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Inborn genetic diseases
Retinal dystrophy
BBS1-related disorder

Criteria Provided
Conflicting Classifications

CA6123687

rs_755782127

7 SubmittersRCV000551663 RCV001834775 RCV002528349 RCV003889922 RCV004742490

NM_024649.5(BBS1):c.1585T>G (p.Ser529Ala)

SNV
Germline

Chr11:66531005

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA381425552

rs_1316472200

4 SubmittersRCV000547894 RCV001834776 RCV005520302

NM_024649.5(BBS1):c.41C>G (p.Ala14Gly)

SNV
Germline

Chr11:66510700

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA381453346

rs_774110999

2 SubmittersRCV000585181 RCV001199647

NM_024649.5(BBS1):c.1059A>G (p.Gly353=)

SNV
Germline

Chr11:66523831

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA6123599

rs_199692416

2 SubmittersRCV000592292 RCV001085017

NM_024649.5(BBS1):c.1743C>T (p.His581=)

SNV
Germline

Chr11:66531998

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome
BBS1-related disorder

Criteria Provided
Conflicting Classifications

CA6123881

rs_61890368

3 SubmittersRCV000598276 RCV001479055 RCV003900344

NM_024649.5(BBS1):c.858C>T (p.Ile286=)

SNV
Germline

Chr11:66523483

Conflicting classifications of pathogenicity

Condition: not provided
BBS1-related disorder
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA6123536

rs_746775716

3 SubmittersRCV000593860 RCV003935622 RCV001455889

NM_024649.5(BBS1):c.1339G>A (p.Ala447Thr)

SNV
Germline

Chr11:66526807

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Condition: not provided
Inborn genetic diseases
Bardet-Biedl syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA6123700

rs_200116631

7 SubmittersRCV000638357 RCV003313119 RCV001267196 RCV002483815

NM_024649.5(BBS1):c.48-1G>T

SNV
Germline

Chr11:66511012

Pathogenic

Bardet-Biedl syndrome 1
Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA381453466

rs_751753112

2 SubmittersRCV000666501 RCV001861753

NM_024649.5(BBS1):c.124+1G>A

SNV
Germline

Chr11:66511090

Pathogenic

Bardet-Biedl syndrome 1

Criteria Provided
Single Submitter

CA381453909

rs_1057516449

2 SubmittersRCV000673570

NM_024649.5(BBS1):c.433-2A>G

SNV
Unknown

Chr11:66515538

Likely pathogenic

Bardet-Biedl syndrome 1

Criteria Provided
Single Submitter

CA381457281

rs_1555046748

2 SubmittersRCV000675034

NM_024649.5(BBS1):c.518+1G>A

SNV
Unknown

Chr11:66515732

Likely pathogenic

Bardet-Biedl syndrome 1

No Assertion Criteria Provided

CA6123388

rs_771517209

1 SubmittersRCV000667863

NM_024649.5(BBS1):c.664G>C (p.Gly222Arg)

SNV
Germline

Chr11:66519689

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA6123439

rs_761760689

3 SubmittersRCV000670649 RCV001861797 RCV001724126

NM_024649.5(BBS1):c.724-1G>C

SNV
Germline

Chr11:66521269

Pathogenic

Bardet-Biedl syndrome 1
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA6123471

rs_748523268

3 SubmittersRCV000667597 RCV001377611

NM_024649.5(BBS1):c.1609-2A>T

SNV
Unknown

Chr11:66531654

Likely pathogenic

Bardet-Biedl syndrome 1

No Assertion Criteria Provided

CA381425789

rs_1555050394

1 SubmittersRCV000674900

NM_024649.5(BBS1):c.1695G>A (p.Lys565=)

SNV
Unknown

Chr11:66531742

Likely pathogenic

Bardet-Biedl syndrome 1
Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA475342328

rs_1555050427

2 SubmittersRCV000673043 RCV003222093

NM_024649.5(BBS1):c.1318C>T (p.Arg440Ter)

SNV
Germline

Chr11:66526786

Pathogenic

Bardet-Biedl syndrome 1
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA224047703

rs_1014835928

5 SubmittersRCV000667051 RCV001060606

NM_024649.5(BBS1):c.1717C>T (p.Gln573Ter)

SNV
Germline

Chr11:66531972

Likely pathogenic

Bardet-Biedl syndrome 1

Criteria Provided
Single Submitter

CA381426516

rs_1450045618

2 SubmittersRCV000674193

NM_024649.5(BBS1):c.47+2T>C

SNV
Unknown

Chr11:66510708

Likely pathogenic

Bardet-Biedl syndrome 1

No Assertion Criteria Provided

CA381453393

rs_1182864166

1 SubmittersRCV000668745

NM_024649.5(BBS1):c.1340-1G>T

SNV
Germline

Chr11:66529818

Pathogenic

Bardet-Biedl syndrome 1
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA381423850

rs_1555049893

3 SubmittersRCV000669016 RCV003523008

NM_024649.5(BBS1):c.1A>C (p.Met1Leu)

SNV
Unknown

Chr11:66510660

Likely pathogenic

Bardet-Biedl syndrome 1

No Assertion Criteria Provided

CA381453160

rs_1306821707

1 SubmittersRCV000671318

NM_024649.5(BBS1):c.1A>T (p.Met1Leu)

SNV
Germline

Chr11:66510660

Pathogenic

Bardet-Biedl syndrome 1
Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA381453162

rs_1306821707

2 SubmittersRCV000669884 RCV001855530

NM_024649.5(BBS1):c.479+2T>G

SNV
Germline

Chr11:66515588

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 1
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA381457393

rs_1353098253

5 SubmittersRCV000666424 RCV001868212

NM_024649.5(BBS1):c.1110G>A (p.Pro370=)

SNV
Germline

Chr11:66523882

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
Condition: not provided
BBS1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA6123610

rs_183771956

6 SubmittersRCV000668784 RCV001377153 RCV001756134 RCV004723052

NM_024649.5(BBS1):c.1405C>T (p.Gln469Ter)

SNV
Germline

Chr11:66529884

Pathogenic

Bardet-Biedl syndrome 1
Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA381423981

rs_1565289799

2 SubmittersRCV000678523 RCV003633533

NM_024649.5(BBS1):c.1125C>G (p.Ser375Arg)

SNV
Germline

Chr11:66526137

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA381422148

rs_1565287512

2 SubmittersRCV000735916

NM_024649.5(BBS1):c.1177C>T (p.Arg393Ter)

SNV
Germline

Chr11:66526189

Pathogenic

Bardet-Biedl syndrome
Retinitis pigmentosa
Bardet-Biedl syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381422342

rs_1160669210

3 SubmittersRCV000735917 RCV001724144 RCV003106027

NM_024649.5(BBS1):c.1473+4A>G

SNV
Germline

Chr11:66529956

Pathogenic

Bardet-Biedl syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA599866559

rs_1486200900

3 SubmittersRCV000735918 RCV000787533

NM_024649.5(BBS1):c.1694A>G (p.Lys565Arg)

SNV
Germline

Chr11:66531741

Pathogenic

Bardet-Biedl syndrome

No Assertion Criteria Provided

CA381426274

rs_1565291081

1 SubmittersRCV000735919

NM_024649.5(BBS1):c.1110+2T>G

SNV
Germline

Chr11:66523884

Likely pathogenic

Condition: not provided
Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA381463104

rs_1565286223

2 SubmittersRCV000722672 RCV001862123

NM_024649.5(BBS1):c.1100T>A (p.Ile367Asn)

SNV
Germline

Chr11:66523872

Likely pathogenic

Bardet-Biedl syndrome 1

Criteria Provided
Single Submitter

CA381462776

rs_1565286202

1 SubmittersRCV000761258

NM_024649.5(BBS1):c.46A>T (p.Ser16Cys)

SNV
Germline

Chr11:66510705

Likely pathogenic

Bardet-Biedl syndrome
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA6123193

rs_772917364

2 SubmittersRCV000782273 RCV004817985

NM_024649.5(BBS1):c.1110+3G>C

SNV
Germline

Chr11:66523885

Pathogenic

Bardet-Biedl syndrome
Retinitis pigmentosa
Bardet-Biedl syndrome 1

Criteria Provided
Single Submitter

CA224077259

rs_762276925

3 SubmittersRCV000787532 RCV000787786 RCV005606710

NM_024649.5(BBS1):c.442G>A (p.Asp148Asn)

SNV
Germline

Chr11:66515549

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Condition: not provided
BBS1-related disorder

Criteria Provided
Conflicting Classifications

CA6123346

rs_200688985

14 SubmittersRCV000799690 RCV001272375 RCV002275136 RCV003938167

NM_024649.5(BBS1):c.1447C>T (p.Arg483Ter)

SNV
Germline

Chr11:66529926

Pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Condition: not provided
Inborn genetic diseases
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA6123770

rs_745656125

8 SubmittersRCV000804705 RCV001273360 RCV003128709 RCV002534792 RCV004818039

NM_024649.5(BBS1):c.840G>C (p.Lys280Asn)

SNV
Germline

Chr11:66523465

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Condition: not provided
Bardet-Biedl syndrome 1
BBS1-related disorder

Criteria Provided
Conflicting Classifications

CA6123532

rs_780169168

5 SubmittersRCV000860723 RCV001356892 RCV001835987 RCV004742655

NM_024649.5(BBS1):c.243G>A (p.Pro81=)

SNV
Germline

Chr11:66514489

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 1

Criteria Provided
Conflicting Classifications

CA6123295

rs_141429900

2 SubmittersRCV000864554 RCV001107114

NM_024649.5(BBS1):c.1383A>G (p.Leu461=)

SNV
Germline

Chr11:66529862

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 1
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA6123751

rs_557739576

2 SubmittersRCV001107213 RCV001473644

NM_024649.5(BBS1):c.1634A>G (p.Asn545Ser)

SNV
Germline

Chr11:66531681

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Condition: not provided
BBS1-related ciliopathy
BBS1-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA6123843

rs_148948642

8 SubmittersRCV000866224 RCV001107216 RCV001772161 RCV005367601 RCV003938274 RCV003889995

NM_024649.5(BBS1):c.1608+1G>A

SNV
Germline

Chr11:66531029

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Bardet-Biedl syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381425686

rs_1856758582

3 SubmittersRCV001199431 RCV002481807

NM_024649.5(BBS1):c.68G>A (p.Trp23Ter)

SNV
Germline

Chr11:66511033

Pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA6123228

rs_778850233

3 SubmittersRCV001045107 RCV003461466

NM_024649.5(BBS1):c.235G>T (p.Glu79Ter)

SNV
Germline

Chr11:66514481

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA381456081

rs_138744839

1 SubmittersRCV001056484

NM_024649.5(BBS1):c.901G>A (p.Val301Ile)

SNV
Germline

Chr11:66523526

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA224077094

rs_1037134217

4 SubmittersRCV001044568 RCV001836081 RCV005298678

NM_024649.5(BBS1):c.1111-2A>G

SNV
Germline

Chr11:66526121

Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381422083

rs_761969357

4 SubmittersRCV001035665 RCV001832373

NM_024649.5(BBS1):c.1638C>A (p.Tyr546Ter)

SNV
Germline

Chr11:66531685

Likely pathogenic

Retinal dystrophy

Criteria Provided
Single Submitter

CA381425978

rs_1856787758

1 SubmittersRCV001073740

NM_024649.5(BBS1):c.1682C>G (p.Ser561Ter)

SNV
Germline

Chr11:66531729

Likely pathogenic

Retinal dystrophy
Bardet-Biedl syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381426214

rs_1856790811

2 SubmittersRCV001073857 RCV003462629

NM_024649.5(BBS1):c.1473+2T>C

SNV
Germline

Chr11:66529954

Pathogenic/Likely pathogenic

Retinal dystrophy
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA381424183

rs_1856699646

2 SubmittersRCV001074148 RCV003523058

NM_024649.5(BBS1):c.441C>T (p.Ile147=)

SNV
Germline

Chr11:66515548

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
BBS1-related disorder

Criteria Provided
Conflicting Classifications

CA6123345

rs_544997496

4 SubmittersRCV001107116 RCV001396142 RCV003973074

NM_024649.5(BBS1):c.867C>T (p.Ser289=)

SNV
Germline

Chr11:66523492

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
BBS1-related disorder

Criteria Provided
Conflicting Classifications

CA6123538

rs_776322401

3 SubmittersRCV001104147 RCV001494875 RCV004743292

NM_024649.5(BBS1):c.1371C>T (p.Tyr457=)

SNV
Germline

Chr11:66529850

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
BBS1-related disorder

Criteria Provided
Conflicting Classifications

CA6123748

rs_781014949

4 SubmittersRCV001104458 RCV001505737 RCV003918681

NM_024649.5(BBS1):c.363C>A (p.Tyr121Ter)

SNV
Germline

Chr11:66514609

Pathogenic

Bardet-Biedl syndrome 1
Condition: not provided

No Assertion Criteria Provided

CA381456889

rs_1856010874

3 SubmittersRCV001175185 RCV001699516

NM_024649.5(BBS1):c.830+2T>C

SNV
Germline

Chr11:66521378

Likely pathogenic

Bardet-Biedl syndrome 1
BBS1-related disorder

No Assertion Criteria Provided

CA381459668

rs_1856209722

2 SubmittersRCV001175184 RCV004726919

NM_024649.5(BBS1):c.951+58C>T

SNV
Germline

Chr11:66523634

Pathogenic

Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA1139662036

rs_1856346961

5 SubmittersRCV001175186 RCV002555443 RCV003322856

NM_024649.5(BBS1):c.217G>T (p.Gly73Ter)

SNV
Germline

Chr11:66514463

Pathogenic

Bardet-Biedl syndrome
Condition: not provided
Bardet-Biedl syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381455944

rs_1012901050

3 SubmittersRCV001213374 RCV002561812 RCV003462716

NM_024649.5(BBS1):c.417G>A (p.Trp139Ter)

SNV
Germline

Chr11:66514663

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA381457173

rs_1856011993

1 SubmittersRCV001209548

NM_024649.5(BBS1):c.480-2A>C

SNV
Germline

Chr11:66515691

Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381457395

rs_1856035426

2 SubmittersRCV001246287 RCV005050312

NM_024649.5(BBS1):c.723+1G>C

SNV
Germline

Chr11:66519749

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381459058

rs_1295318869

3 SubmittersRCV001242050 RCV003462818

NM_024649.5(BBS1):c.71T>A (p.Leu24Ter)

SNV
Unknown

Chr11:66511036

Likely pathogenic

Bardet-Biedl syndrome 1

Criteria Provided
Single Submitter

CA381453606

rs_1855932058

1 SubmittersRCV001263833

NM_024649.5(BBS1):c.214A>T (p.Lys72Ter)

SNV
Unknown

Chr11:66514460

Likely pathogenic

Bardet-Biedl syndrome 1

Criteria Provided
Single Submitter

CA381455931

rs_1856007963

1 SubmittersRCV001263834

NM_024649.5(BBS1):c.406C>T (p.Gln136Ter)

SNV
Germline

Chr11:66514652

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 1
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA381457126

rs_1856011738

3 SubmittersRCV001263835 RCV005057180

NM_024649.5(BBS1):c.700G>T (p.Glu234Ter)

SNV
Unknown

Chr11:66519725

Likely pathogenic

Bardet-Biedl syndrome 1

Criteria Provided
Single Submitter

CA381458968

rs_35520756

1 SubmittersRCV001263836

NM_024649.5(BBS1):c.965G>A (p.Trp322Ter)

SNV
Unknown

Chr11:66523737

Likely pathogenic

Bardet-Biedl syndrome 1

Criteria Provided
Single Submitter

CA381462034

rs_1856354695

1 SubmittersRCV001264002

NM_024649.5(BBS1):c.1009G>T (p.Glu337Ter)

SNV
Unknown

Chr11:66523781

Likely pathogenic

Bardet-Biedl syndrome 1

Criteria Provided
Single Submitter

CA381462265

rs_1856358703

1 SubmittersRCV001264003

NM_024649.5(BBS1):c.1143C>A (p.Tyr381Ter)

SNV
Unknown

Chr11:66526155

Likely pathogenic

Bardet-Biedl syndrome 1

Criteria Provided
Single Submitter

CA381422211

rs_1021331909

1 SubmittersRCV001264004

NM_024649.5(BBS1):c.1198A>T (p.Lys400Ter)

SNV
Unknown

Chr11:66526666

Likely pathogenic

Bardet-Biedl syndrome 1

Criteria Provided
Single Submitter

CA381422454

rs_1421044140

1 SubmittersRCV001264005

NM_024649.5(BBS1):c.1205T>C (p.Leu402Pro)

SNV
Germline

Chr11:66526673

Conflicting classifications of pathogenicity

Retinal dystrophy
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA6123674

rs_767150997

3 SubmittersRCV001270354 RCV001880202

NM_024649.5(BBS1):c.951+1G>T

SNV
Unknown

Chr11:66523577

Pathogenic

Bardet-Biedl syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381461899

rs_746875134

2 SubmittersRCV001329988

NM_024649.5(BBS1):c.1181-9C>G

SNV
Germline

Chr11:66526640

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA1979711666

rs_769820955

2 SubmittersRCV001340368 RCV004570814

NM_024649.5(BBS1):c.382C>T (p.Gln128Ter)

SNV
Germline

Chr11:66514628

Pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA381456987

rs_2134771570

3 SubmittersRCV001387771 RCV003463020 RCV004699361

NM_024649.5(BBS1):c.421C>T (p.Gln141Ter)

SNV
Germline

Chr11:66514667

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA381457203

rs_2134771631

1 SubmittersRCV001383137

NM_024649.5(BBS1):c.830G>A (p.Arg277Lys)

SNV
Germline

Chr11:66521376

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA381459651

rs_1856209517

2 SubmittersRCV001388588

NM_024649.5(BBS1):c.1261C>T (p.Gln421Ter)

SNV
Germline

Chr11:66526729

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381422701

rs_1856520165

2 SubmittersRCV001388071 RCV005050371

NM_024649.5(BBS1):c.1657G>T (p.Glu553Ter)

SNV
Germline

Chr11:66531704

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA381426103

rs_1856788934

1 SubmittersRCV001390868

NM_024649.5(BBS1):c.589C>T (p.Gln197Ter)

SNV
Germline

Chr11:66515931

Pathogenic

Condition: not provided
Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA381457647

rs_777143614

3 SubmittersRCV001700570 RCV003222339

NM_024649.5(BBS1):c.1473+2T>G

SNV
Germline

Chr11:66529954

Likely pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA381424184

rs_1856699646

1 SubmittersRCV001724834

NM_024649.5(BBS1):c.48-1G>A

SNV
Germline

Chr11:66511012

Pathogenic

Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA6123223

rs_751753112

4 SubmittersRCV001730053 RCV001882796 RCV004815608

NM_024649.5(BBS1):c.47+1G>T

SNV
Germline

Chr11:66510707

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 1
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA381453388

rs_1475257145

3 SubmittersRCV001780997 RCV003523108

NM_024649.5(BBS1):c.890G>A (p.Arg297Gln)

SNV
Germline

Chr11:66523515

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
not specified
Bardet-Biedl syndrome 1

Criteria Provided
Conflicting Classifications

CA6123543

rs_372092113

3 SubmittersRCV001888311 RCV003155436 RCV005050436

NM_024649.5(BBS1):c.1695+1G>A

SNV
Germline

Chr11:66531743

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA381426282

rs_2134841394

1 SubmittersRCV001980127

NM_024649.5(BBS1):c.1708C>T (p.Arg570Ter)

SNV
Germline

Chr11:66531963

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381426480

rs_1434577015

3 SubmittersRCV002029113 RCV003138033

NM_024649.5(BBS1):c.1516C>T (p.Gln506Ter)

SNV
Germline

Chr11:66530936

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA381425209

rs_2134836882

1 SubmittersRCV002035351

NM_024649.5(BBS1):c.1474-1G>A

SNV
Germline

Chr11:66530893

Likely pathogenic

Bardet-Biedl syndrome
BBS1-related disorder

Criteria Provided
Single Submitter

CA381424929

rs_2134836650

2 SubmittersRCV001985950 RCV004729009

NM_024649.5(BBS1):c.1110+1G>C

SNV
Germline

Chr11:66523883

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA381463095

rs_2134797993

1 SubmittersRCV002036324

NM_024649.5(BBS1):c.1A>G (p.Met1Val)

SNV
Germline

Chr11:66510660

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381453161

rs_1306821707

2 SubmittersRCV001953605 RCV005050484

NM_024649.5(BBS1):c.1110+329C>T

SNV
Germline

Chr11:66524211

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 1

Criteria Provided
Conflicting Classifications

CA224077368

rs_571170303

4 SubmittersRCV002271752 RCV003464425

NM_024649.5(BBS1):c.966G>A (p.Trp322Ter)

SNV
Unknown

Chr11:66523738

Likely pathogenic

Bardet-Biedl syndrome 1

Criteria Provided
Single Submitter

CA381462042

rs_2495779138

1 SubmittersRCV002306786

NM_024649.5(BBS1):c.1498A>T (p.Lys500Ter)

SNV
Unknown

Chr11:66530918

Likely pathogenic

Bardet-Biedl syndrome 1

Criteria Provided
Single Submitter

CA381425083

rs_1445972147

1 SubmittersRCV002308058

NM_024649.5(BBS1):c.1097T>A (p.Val366Asp)

SNV
Germline

Chr11:66523869

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA381462747

rs_2495780320

2 SubmittersRCV003062412

NM_024649.5(BBS1):c.526C>T (p.Gln176Ter)

SNV
Germline

Chr11:66515868

Pathogenic

Bardet-Biedl syndrome
BBS1-related disorder
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA381457507

rs_777765120

3 SubmittersRCV003080656 RCV004744587 RCV005419565

NM_024649.5(BBS1):c.1076G>A (p.Arg359His)

SNV
Germline

Chr11:66523848

Conflicting classifications of pathogenicity

Inborn genetic diseases
Bardet-Biedl syndrome
BBS1-related disorder
Bardet-Biedl syndrome 1

Criteria Provided
Conflicting Classifications

CA6123605

rs_147766972

4 SubmittersRCV003082997 RCV003090542 RCV003420345 RCV005050735

NM_024649.5(BBS1):c.1339+1G>A

SNV
Germline

Chr11:66526808

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA381422966

rs_2495802280

1 SubmittersRCV002774857

NM_024649.5(BBS1):c.2T>C (p.Met1Thr)

SNV
Germline

Chr11:66510661

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA381453164

rs_1222159281

1 SubmittersRCV002770915

NM_024649.5(BBS1):c.160-1G>A

SNV
Germline

Chr11:66514405

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA381455480

rs_2495736089

1 SubmittersRCV002814454

NM_024649.5(BBS1):c.1110+2T>C

SNV
Germline

Chr11:66523884

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA381463102

rs_1565286223

1 SubmittersRCV002838247

NM_024649.5(BBS1):c.159+1G>A

SNV
Germline

Chr11:66511240

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA381454191

rs_2495728996

1 SubmittersRCV002853300

NM_024649.5(BBS1):c.1401C>G (p.Tyr467Ter)

SNV
Germline

Chr11:66529880

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381423973

rs_2495830435

2 SubmittersRCV002881244 RCV004584235

NM_024649.5(BBS1):c.951+2T>A

SNV
Germline

Chr11:66523578

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA381461901

rs_1590766771

1 SubmittersRCV002900622

NM_024649.5(BBS1):c.3G>A (p.Met1Ile)

SNV
Germline

Chr11:66510662

Pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381453166

rs_1855918305

2 SubmittersRCV002923444 RCV005050662

NM_024649.5(BBS1):c.1577C>T (p.Ala526Val)

SNV
Germline

Chr11:66530997

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Inborn genetic diseases
BBS1-related disorder

Criteria Provided
Conflicting Classifications

CA6123816

rs_759763673

3 SubmittersRCV002975456 RCV004068272 RCV004744510

NM_024649.5(BBS1):c.1180+1G>T

SNV
Germline

Chr11:66526193

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA6123648

rs_370132070

1 SubmittersRCV003026148

NM_024649.5(BBS1):c.723+2T>G

SNV
Germline

Chr11:66519750

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381459064

rs_2495752994

2 SubmittersRCV003019265 RCV003459699

NM_024649.5(BBS1):c.913G>A (p.Gly305Ser)

SNV
Germline

Chr11:66523538

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA224077108

rs_942862410

2 SubmittersRCV003388220

NM_024649.5(BBS1):c.951+1G>C

SNV
Germline

Chr11:66523577

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 1
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA6123553

rs_746875134

2 SubmittersRCV003338232 RCV003633707

NM_024649.5(BBS1):c.830+1G>T

SNV
Unknown

Chr11:66521377

Likely pathogenic

Bardet-Biedl syndrome 1

Criteria Provided
Single Submitter

CA6123507

rs_200335137

1 SubmittersRCV003465010

NM_024649.5(BBS1):c.723+1G>A

SNV
Germline

Chr11:66519749

Likely pathogenic

Bardet-Biedl syndrome 1
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA381459059

rs_1295318869

2 SubmittersRCV003465016 RCV003523195

NM_024649.5(BBS1):c.591+1G>A

SNV
Unknown

Chr11:66515934

Likely pathogenic

Bardet-Biedl syndrome 1

Criteria Provided
Single Submitter

CA381457653

rs_2495741578

1 SubmittersRCV003465017

NM_024649.5(BBS1):c.723+2T>C

SNV
Unknown

Chr11:66519750

Likely pathogenic

Bardet-Biedl syndrome 1

Criteria Provided
Single Submitter

CA381459062

rs_2495752994

1 SubmittersRCV003465020

NM_024649.5(BBS1):c.951+2T>G

SNV
Unknown

Chr11:66523578

Likely pathogenic

Bardet-Biedl syndrome 1

Criteria Provided
Single Submitter

CA381461905

rs_1590766771

1 SubmittersRCV003465022

NM_024649.5(BBS1):c.47+2T>G

SNV
Unknown

Chr11:66510708

Likely pathogenic

Bardet-Biedl syndrome 1

Criteria Provided
Single Submitter

CA381453395

rs_1182864166

1 SubmittersRCV003465024

NM_024649.5(BBS1):c.449T>A (p.Leu150Ter)

SNV
Germline

Chr11:66515556

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA381457317

rs_2495739867

1 SubmittersRCV003523992

NM_024649.5(BBS1):c.830+2T>A

SNV
Germline

Chr11:66521378

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA381459666

rs_1856209722

1 SubmittersRCV003523980

NM_024649.5(BBS1):c.863T>G (p.Leu288Arg)

SNV
Germline

Chr11:66523488

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA381461421

rs_2495776917

1 SubmittersRCV003525327

NM_024649.5(BBS1):c.48-2A>G

SNV
Germline

Chr11:66511011

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA381453457

rs_764245266

1 SubmittersRCV003523633

NM_024649.5(BBS1):c.1181-1G>C

SNV
Germline

Chr11:66526648

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA381422392

rs_2495800494

1 SubmittersRCV003524471

NM_024649.5(BBS1):c.1125C>A (p.Ser375Arg)

SNV
Germline

Chr11:66526137

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA381422147

rs_1565287512

1 SubmittersRCV003524763

NM_024649.5(BBS1):c.1606A>T (p.Lys536Ter)

SNV
Germline

Chr11:66531026

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA381425669

rs_766218865

1 SubmittersRCV003524709

NM_024649.5(BBS1):c.1450G>T (p.Glu484Ter)

SNV
Germline

Chr11:66529929

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA381424082

rs_1416464603

1 SubmittersRCV003633127

NM_024649.5(BBS1):c.472A>G (p.Ser158Gly)

SNV
Germline

Chr11:66515579

Likely pathogenic

Retinal dystrophy

Criteria Provided
Single Submitter

CA381457371

rs_2495739948

1 SubmittersRCV003889602

NM_024649.5(BBS1):c.69G>A (p.Trp23Ter)

SNV
Unknown

Chr11:66511034

Likely pathogenic

Bardet-Biedl syndrome 1

Criteria Provided
Single Submitter

rs_2495728074

1 SubmittersRCV004573992

NM_024649.5(BBS1):c.592-1G>C

SNV
Germline

Chr11:66519616

Likely pathogenic

BBS1-related disorder

No Assertion Criteria Provided

1 SubmittersRCV004742850

NM_024649.5(BBS1):c.2T>G (p.Met1Arg)

SNV
Germline

Chr11:66510661

Pathogenic

Bardet-Biedl syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV005051045

NM_024649.5(BBS1):c.724-1G>A

SNV
Germline

Chr11:66521269

Likely pathogenic

Bardet-Biedl syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV005051060

NM_024649.5(BBS1):c.1339+2T>A

SNV
Germline

Chr11:66526809

Likely pathogenic

Bardet-Biedl syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV005051072

NM_024649.5(BBS1):c.159+1G>T

SNV
Germline

Chr11:66511240

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005115082

NM_024649.5(BBS1):c.859G>T (p.Glu287Ter)

SNV
Germline

Chr11:66523484

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005408302

NM_024649.5(BBS1):c.1608+1G>T

SNV
Germline

Chr11:66531029

Likely pathogenic

Bardet-Biedl syndrome 1

No Assertion Criteria Provided

1 SubmittersRCV005614974