Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter)	SNV Germline	Chr4:122742955	Pathogenic	Bardet-Biedl syndrome 12 Bardet-Biedl syndrome Inability to walk Abnormal cardiovascular system morphology Polydactyly, postaxial, type A1 Visual impairment Bardet-Biedl syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA251706	rs_121918327	14 SubmittersRCV000001206 RCV000538405 RCV000626780 RCV003228891 RCV005256546
NM_152618.3(BBS12):c.865G>C (p.Ala289Pro)	SNV Germline	Chr4:122742757	Likely pathogenic	Bardet-Biedl syndrome 12 Retinal dystrophy Bardet-Biedl syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA251711	rs_121918328	6 SubmittersRCV000001209 RCV001073577 RCV001042718 RCV004719606
NM_152618.3(BBS12):c.323C>G (p.Pro108Arg)	SNV Germline	Chr4:122742215	Pathogenic	Bardet-Biedl syndrome	Criteria Provided Single Submitter	CA265992	rs_151344630	1 SubmittersRCV000058869
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr)	SNV Germline	Chr4:122742008	Conflicting classifications of pathogenicity	not specified Condition: not provided Bardet-Biedl syndrome 12 Bardet-Biedl syndrome 1 Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA149562	rs_138036823	15 SubmittersRCV000082656 RCV000513736 RCV000626298 RCV000709646 RCV001080843
NM_152618.3(BBS12):c.1506C>T (p.Ala502=)	SNV Germline	Chr4:122743398	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome Bardet-Biedl syndrome 12	Criteria Provided Conflicting Classifications	CA233512	rs_144855583	4 SubmittersRCV000152834 RCV001084674 RCV001272725
NM_152618.3(BBS12):c.979T>A (p.Ser327Thr)	SNV Germline	Chr4:122742871	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases BBS12-related disorder	Criteria Provided Conflicting Classifications	CA241840	rs_116805550	3 SubmittersRCV000175979 RCV002516696 RCV003907579
NM_152618.3(BBS12):c.978T>A (p.Thr326=)	SNV Germline	Chr4:122742870	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome Bardet-Biedl syndrome 12 BBS12-related disorder	Criteria Provided Conflicting Classifications	CA241843	rs_115635198	5 SubmittersRCV000175980 RCV001084799 RCV001832004 RCV003907580
NM_152618.3(BBS12):c.1704G>A (p.Trp568Ter)	SNV Germline	Chr4:122743596	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA275090	rs_747904021	1 SubmittersRCV000175982
NM_152618.3(BBS12):c.212A>G (p.Asn71Ser)	SNV Germline	Chr4:122742104	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome not specified Bardet-Biedl syndrome 12 Condition: not provided	Criteria Provided Conflicting Classifications	CA338134	rs_143960329	6 SubmittersRCV000198717 RCV000393607 RCV001144903 RCV001657986
NM_152618.3(BBS12):c.1257C>T (p.Ser419=)	SNV Germline	Chr4:122743149	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Bardet-Biedl syndrome 12 BBS12-related disorder	Criteria Provided Conflicting Classifications	CA349162	rs_34652786	4 SubmittersRCV000204980 RCV001094856 RCV003937776
NM_152618.3(BBS12):c.1574G>A (p.Arg525His)	SNV Germline	Chr4:122743466	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome not specified Bardet-Biedl syndrome 12 BBS12-related disorder	Criteria Provided Conflicting Classifications	CA348258	rs_776730549	9 SubmittersRCV000203973 RCV000499807 RCV000668722 RCV004745281
NM_152618.3(BBS12):c.2020C>T (p.Arg674Cys)	SNV Germline	Chr4:122743912	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome 12 Retinal dystrophy Bardet-Biedl syndrome Inborn genetic diseases BBS12-related disorder	Criteria Provided Conflicting Classifications	CA3069551	rs_759088490	10 SubmittersRCV000493625 RCV000669934 RCV001075674 RCV001089798 RCV002518825 RCV004745317
NM_152618.3(BBS12):c.1277G>A (p.Cys426Tyr)	SNV Germline	Chr4:122743169	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 12 Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA10617032	rs_886059058	3 SubmittersRCV000669919 RCV001386881
NM_152618.3(BBS12):c.1499T>C (p.Val500Ala)	SNV Germline	Chr4:122743391	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Bardet-Biedl syndrome 12 BBS12-related disorder Condition: not provided BBS12-related ciliopathy	Criteria Provided Conflicting Classifications	CA3069461	rs_145392789	9 SubmittersRCV000399304 RCV001094948 RCV003932413 RCV004546486 RCV005355670
NM_152618.3(BBS12):c.1590A>G (p.Leu530=)	SNV Germline	Chr4:122743482	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Bardet-Biedl syndrome 12 BBS12-related disorder	Criteria Provided Conflicting Classifications	CA10617036	rs_886059059	3 SubmittersRCV000308593 RCV001094949 RCV004745356
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter)	SNV Germline	Chr4:122743915	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome Bardet-Biedl syndrome 12 Condition: not provided BBS12-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA3069552	rs_752202089	16 SubmittersRCV000302878 RCV000670073 RCV001091376 RCV003418071
NM_152618.3(BBS12):c.2100T>C (p.Asn700=)	SNV Germline	Chr4:122743992	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Bardet-Biedl syndrome 12	Criteria Provided Conflicting Classifications	CA3069566	rs_145847043	3 SubmittersRCV000360072 RCV001094787
NM_152618.3(BBS12):c.1504G>T (p.Ala502Ser)	SNV Germline	Chr4:122743396	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA3069464	rs_142593414	4 SubmittersRCV000487758 RCV001199434
NM_152618.3(BBS12):c.1859A>G (p.Gln620Arg)	SNV Germline	Chr4:122743751	Conflicting classifications of pathogenicity	not specified Bardet-Biedl syndrome Bardet-Biedl syndrome 1 Bardet-Biedl syndrome 12 Condition: not provided BBS12-related disorder BBS12-related ciliopathy	Criteria Provided Conflicting Classifications	CA3069524	rs_139278612	12 SubmittersRCV000499698 RCV000625333 RCV000709681 RCV001145003 RCV001584212 RCV003424055 RCV005356018
NM_152618.3(BBS12):c.1237C>G (p.Leu413Val)	SNV Germline	Chr4:122743129	Conflicting classifications of pathogenicity	Condition: not provided Retinal dystrophy Bardet-Biedl syndrome Bardet-Biedl syndrome 12 BBS12-related disorder	Criteria Provided Conflicting Classifications	CA3069405	rs_758217005	9 SubmittersRCV000512649 RCV001073517 RCV001047657 RCV001829459 RCV004745433
NM_152618.3(BBS12):c.104C>A (p.Ser35Ter)	SNV Germline	Chr4:122741996	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome Condition: not provided Bardet-Biedl syndrome 12	Criteria Provided Multiple Submitters No Conflicts	CA358222190	rs_1381368546	5 SubmittersRCV000525828 RCV001821531 RCV001834777
NM_152618.3(BBS12):c.714T>G (p.Asn238Lys)	SNV Germline	Chr4:122742606	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Bardet-Biedl syndrome 1 Bardet-Biedl syndrome 12 not specified	Criteria Provided Conflicting Classifications	CA3069317	rs_17006082	7 SubmittersRCV000546031 RCV000709645 RCV001144905 RCV001821532
NM_152618.3(BBS12):c.1375C>T (p.Gln459Ter)	SNV Germline	Chr4:122743267	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome Bardet-Biedl syndrome 12	Criteria Provided Multiple Submitters No Conflicts	CA358224980	rs_1269565757	5 SubmittersRCV000638353 RCV000669123
NM_152618.3(BBS12):c.682C>T (p.Gln228Ter)	SNV Germline	Chr4:122742574	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 12 Bardet-Biedl syndrome BBS12-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA3069312	rs_769588983	6 SubmittersRCV000665632 RCV001389867 RCV004745544
NM_152618.3(BBS12):c.1619G>T (p.Gly540Val)	SNV Germline	Chr4:122743511	Pathogenic	Bardet-Biedl syndrome 12 Bardet-Biedl syndrome	Criteria Provided Single Submitter	CA105249219	rs_1010403072	2 SubmittersRCV000665397 RCV001389937
NM_152618.3(BBS12):c.476C>T (p.Pro159Leu)	SNV Germline	Chr4:122742368	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 12 Retinal dystrophy Bardet-Biedl syndrome BBS12-related disorder	Criteria Provided Conflicting Classifications	CA358223022	rs_1450190654	7 SubmittersRCV000671341 RCV001074269 RCV001046755 RCV003420188
NM_152618.3(BBS12):c.1616G>T (p.Gly539Val)	SNV Germline	Chr4:122743508	Likely pathogenic	Bardet-Biedl syndrome 12	Criteria Provided Single Submitter	CA3069485	rs_755314355	2 SubmittersRCV000671131
NM_152618.3(BBS12):c.1749C>G (p.Tyr583Ter)	SNV Unknown	Chr4:122743641	Likely pathogenic	Bardet-Biedl syndrome 12	Criteria Provided Single Submitter	CA358225791	rs_1284876635	2 SubmittersRCV000672380
NM_152618.3(BBS12):c.640C>T (p.Arg214Ter)	SNV Germline	Chr4:122742532	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 12 Bardet-Biedl syndrome	Criteria Provided Multiple Submitters No Conflicts	CA3069304	rs_745448288	4 SubmittersRCV000674776 RCV002531359
NM_152618.3(BBS12):c.760G>T (p.Glu254Ter)	SNV Germline	Chr4:122742652	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 12 Retinal dystrophy Bardet-Biedl syndrome	Criteria Provided Multiple Submitters No Conflicts	CA358223637	rs_1553941304	5 SubmittersRCV000671908 RCV001075655 RCV001855571
NM_152618.3(BBS12):c.1949C>G (p.Ser650Ter)	SNV Germline	Chr4:122743841	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 12 Bardet-Biedl syndrome	Criteria Provided Multiple Submitters No Conflicts	CA358226233	rs_1553941580	5 SubmittersRCV000669174 RCV003633531
NM_152618.3(BBS12):c.1055A>C (p.Gln352Pro)	SNV Germline	Chr4:122742947	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 12 Bardet-Biedl syndrome not specified Retinal dystrophy	Criteria Provided Conflicting Classifications	CA3069364	rs_767068756	8 SubmittersRCV000678525 RCV000735935 RCV001375584 RCV004794437
NM_152618.3(BBS12):c.65T>C (p.Phe22Ser)	SNV Germline	Chr4:122741957	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Condition: not provided Bardet-Biedl syndrome 12	Criteria Provided Conflicting Classifications	CA3069231	rs_565073445	6 SubmittersRCV000735938 RCV001779068 RCV001825408
NM_152618.3(BBS12):c.1502C>T (p.Thr501Met)	SNV Germline	Chr4:122743394	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome Retinal dystrophy Bardet-Biedl syndrome 12 Condition: not provided BBS12-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA3069462	rs_138011813	11 SubmittersRCV000735937 RCV001075675 RCV001784348 RCV003235371 RCV004745562
NM_152618.3(BBS12):c.250G>A (p.Gly84Arg)	SNV Germline	Chr4:122742142	Likely pathogenic	Bardet-Biedl syndrome 12	Criteria Provided Single Submitter	CA358222512	rs_1578489760	1 SubmittersRCV000855445
NM_152618.3(BBS12):c.1223A>G (p.Lys408Arg)	SNV Unknown	Chr4:122743115	Likely pathogenic	Retinitis pigmentosa	No Assertion Criteria Provided	CA358224666	rs_1578491064	1 SubmittersRCV000787788
NM_152618.3(BBS12):c.1225G>A (p.Val409Met)	SNV Germline	Chr4:122743117	Likely pathogenic	Bardet-Biedl syndrome	Criteria Provided Single Submitter	CA358224669	rs_1578491070	1 SubmittersRCV000816362
NM_152618.3(BBS12):c.2014G>A (p.Ala672Thr)	SNV Germline	Chr4:122743906	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Bardet-Biedl syndrome 12 Condition: not provided	Criteria Provided Conflicting Classifications	CA3069548	rs_140895713	5 SubmittersRCV000860588 RCV001145005 RCV001567696
NM_152618.3(BBS12):c.1995T>C (p.Val665=)	SNV Germline	Chr4:122743887	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 12 Bardet-Biedl syndrome not specified	Criteria Provided Conflicting Classifications	CA3069543	rs_771980986	4 SubmittersRCV001145004 RCV001394850 RCV003151167
NM_152618.3(BBS12):c.1465G>A (p.Ala489Thr)	SNV Germline	Chr4:122743357	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Bardet-Biedl syndrome 12 BBS12-related disorder Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA3069454	rs_145489987	7 SubmittersRCV001039272 RCV001272723 RCV003396637 RCV004963009 RCV006446004
NM_152618.3(BBS12):c.789C>A (p.Tyr263Ter)	SNV Germline	Chr4:122742681	Pathogenic/Likely pathogenic	Retinal dystrophy Bardet-Biedl syndrome Bardet-Biedl syndrome 12	Criteria Provided Multiple Submitters No Conflicts	CA105249185	rs_974173261	4 SubmittersRCV001075658 RCV002554767 RCV003473708
NM_152618.3(BBS12):c.1394T>C (p.Val465Ala)	SNV Germline	Chr4:122743286	Conflicting classifications of pathogenicity	Retinal dystrophy Bardet-Biedl syndrome Bardet-Biedl syndrome 12	Criteria Provided Conflicting Classifications	CA358225023	rs_1357690062	5 SubmittersRCV001074308 RCV001237705 RCV001833686
NM_152618.3(BBS12):c.1698A>G (p.Ser566=)	SNV Germline	Chr4:122743590	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 12 Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA3069494	rs_746904755	2 SubmittersRCV001151113 RCV001435090
NM_152618.3(BBS12):c.2016G>A (p.Ala672=)	SNV Germline	Chr4:122743908	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 12 Bardet-Biedl syndrome BBS12-related disorder	Criteria Provided Conflicting Classifications	CA3069549	rs_186713451	3 SubmittersRCV001145006 RCV001450117 RCV004746253
NM_152618.3(BBS12):c.1262G>A (p.Arg421His)	SNV Germline	Chr4:122743154	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Bardet-Biedl syndrome 12 BBS12-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3069411	rs_778351153	5 SubmittersRCV001208805 RCV001828673 RCV004746270 RCV005520454
NM_152618.3(BBS12):c.898C>T (p.Gln300Ter)	SNV Germline	Chr4:122742790	Pathogenic	Bardet-Biedl syndrome 12 Bardet-Biedl syndrome	Criteria Provided Multiple Submitters No Conflicts	CA3069345	rs_754448484	2 SubmittersRCV003473802 RCV001233077
NM_152618.3(BBS12):c.1616G>A (p.Gly539Asp)	SNV Germline	Chr4:122743508	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 12 Bardet-Biedl syndrome	Criteria Provided Multiple Submitters No Conflicts	CA358225508	rs_755314355	4 SubmittersRCV001281168 RCV003523090
NM_152618.3(BBS12):c.1276T>C (p.Cys426Arg)	SNV Germline	Chr4:122743168	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 12 Bardet-Biedl syndrome Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA3069413	rs_771456483	5 SubmittersRCV001331784 RCV001871824 RCV001587350
NM_152618.3(BBS12):c.1627G>A (p.Glu543Lys)	SNV Germline	Chr4:122743519	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome	Criteria Provided Multiple Submitters No Conflicts	CA358225526	rs_1800928868	2 SubmittersRCV001348093
NM_152618.3(BBS12):c.172G>T (p.Glu58Ter)	SNV Germline	Chr4:122742064	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome Bardet-Biedl syndrome 12	Criteria Provided Multiple Submitters No Conflicts	CA3069253	rs_759455327	4 SubmittersRCV001389631 RCV001826183
NM_152618.3(BBS12):c.445C>T (p.Gln149Ter)	SNV Germline	Chr4:122742337	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome Bardet-Biedl syndrome 12	Criteria Provided Multiple Submitters No Conflicts	CA358222947	rs_1194574169	5 SubmittersRCV001381650 RCV002493922
NM_152618.3(BBS12):c.1827C>G (p.Tyr609Ter)	SNV Germline	Chr4:122743719	Pathogenic	Bardet-Biedl syndrome	Criteria Provided Single Submitter	CA358225962	rs_1800933874	1 SubmittersRCV001381296
NM_152618.3(BBS12):c.2053C>T (p.Gln685Ter)	SNV Germline	Chr4:122743945	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome Bardet-Biedl syndrome 12	Criteria Provided Multiple Submitters No Conflicts	CA358226456	rs_746020725	2 SubmittersRCV001381938 RCV003473938
NM_152618.3(BBS12):c.1175C>G (p.Ser392Ter)	SNV Germline	Chr4:122743067	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome Bardet-Biedl syndrome 12 BBS12-related disorder	Criteria Provided Conflicting Classifications	CA105249199	rs_747159816	6 SubmittersRCV001757163 RCV001868465 RCV003474020 RCV004746442
NM_152618.3(BBS12):c.1972C>T (p.Gln658Ter)	SNV Germline	Chr4:122743864	Likely pathogenic	Bardet-Biedl syndrome 12	Criteria Provided Single Submitter	CA358226286	rs_2150737953	1 SubmittersRCV001780675
NM_152618.3(BBS12):c.940A>G (p.Arg314Gly)	SNV Germline	Chr4:122742832	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome not specified Bardet-Biedl syndrome 12	Criteria Provided Conflicting Classifications	CA3069350	rs_749107412	3 SubmittersRCV001869698 RCV001819557 RCV006638969
NM_152618.3(BBS12):c.356G>A (p.Gly119Asp)	SNV Germline	Chr4:122742248	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Bardet-Biedl syndrome 12	Criteria Provided Conflicting Classifications	CA358222743	rs_2150736114	2 SubmittersRCV001877517 RCV002490074
NM_152618.3(BBS12):c.1048C>T (p.Gln350Ter)	SNV Germline	Chr4:122742940	Pathogenic	Bardet-Biedl syndrome	Criteria Provided Single Submitter	CA358224285	rs_1375925950	1 SubmittersRCV001970067
NM_152618.3(BBS12):c.1733C>A (p.Ser578Ter)	SNV Germline	Chr4:122743625	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome Bardet-Biedl syndrome 12	Criteria Provided Multiple Submitters No Conflicts	CA358225758	rs_1800931751	4 SubmittersRCV001958721 RCV003475251
NM_152618.3(BBS12):c.1291C>T (p.Arg431Trp)	SNV Germline	Chr4:122743183	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome not specified	Criteria Provided Conflicting Classifications	CA105249202	rs_756955366	3 SubmittersRCV002005178 RCV005238128
NM_152618.3(BBS12):c.1724G>A (p.Trp575Ter)	SNV Germline	Chr4:122743616	Pathogenic	Bardet-Biedl syndrome	Criteria Provided Single Submitter	CA358225741	rs_2150737680	1 SubmittersRCV001979717
NM_152618.3(BBS12):c.1768T>C (p.Phe590Leu)	SNV Germline	Chr4:122743660	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3069503	rs_767882942	2 SubmittersRCV001961156 RCV004603113
NM_152618.3(BBS12):c.22G>A (p.Val8Ile)	SNV Germline	Chr4:122741914	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA358222022	rs_1351171130	2 SubmittersRCV002602580 RCV005774560
NM_152618.3(BBS12):c.880T>G (p.Tyr294Asp)	SNV Germline	Chr4:122742772	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome not specified	Criteria Provided Conflicting Classifications	CA358223906	rs_2485074365	2 SubmittersRCV002616888 RCV005406482
NM_152618.3(BBS12):c.1709A>C (p.His570Pro)	SNV Germline	Chr4:122743601	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome BBS12-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3069497	rs_770047331	3 SubmittersRCV002895290 RCV004747142 RCV004966140
NM_152618.3(BBS12):c.1993G>A (p.Val665Ile)	SNV Germline	Chr4:122743885	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome BBS12-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3069542	rs_369696220	3 SubmittersRCV002908112 RCV003409955 RCV004966143
NM_152618.3(BBS12):c.1799C>G (p.Ser600Ter)	SNV Germline	Chr4:122743691	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome Bardet-Biedl syndrome 12	Criteria Provided Multiple Submitters No Conflicts	CA358225902	rs_2485078084	2 SubmittersRCV002958812 RCV003475457
NM_152618.3(BBS12):c.1786C>T (p.Gln596Ter)	SNV Unknown	Chr4:122743678	Pathogenic	Bardet-Biedl syndrome	Criteria Provided Single Submitter	CA358225871	rs_2485078040	1 SubmittersRCV003222519
NM_152618.3(BBS12):c.1589T>C (p.Leu530Pro)	SNV Germline	Chr4:122743481	Pathogenic	Bardet-Biedl syndrome	Criteria Provided Single Submitter	CA358225448	rs_2485077370	1 SubmittersRCV003405032
NM_152618.3(BBS12):c.1560G>A (p.Trp520Ter)	SNV Unknown	Chr4:122743452	Likely pathogenic	Bardet-Biedl syndrome 12	Criteria Provided Single Submitter	CA358225387	rs_2485077226	1 SubmittersRCV003474324
NM_152618.3(BBS12):c.1339G>T (p.Glu447Ter)	SNV Unknown	Chr4:122743231	Likely pathogenic	Bardet-Biedl syndrome 12	Criteria Provided Single Submitter	CA358224912	rs_2485076250	1 SubmittersRCV003474325
NM_152618.3(BBS12):c.1910T>A (p.Leu637Ter)	SNV Unknown	Chr4:122743802	Likely pathogenic	Bardet-Biedl syndrome 12	Criteria Provided Single Submitter	CA358226137	rs_1177246173	1 SubmittersRCV003474327
NM_152618.3(BBS12):c.1531C>T (p.Gln511Ter)	SNV Germline	Chr4:122743423	Likely pathogenic	Bardet-Biedl syndrome 12 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA358225313	rs_1800925762	2 SubmittersRCV003474329 RCV005871179
NM_152618.3(BBS12):c.1537C>T (p.Gln513Ter)	SNV Unknown	Chr4:122743429	Likely pathogenic	Bardet-Biedl syndrome 12	Criteria Provided Single Submitter	CA358225329	rs_1022524996	1 SubmittersRCV003474332
NM_152618.3(BBS12):c.494C>G (p.Ser165Ter)	SNV Unknown	Chr4:122742386	Likely pathogenic	Bardet-Biedl syndrome 12	Criteria Provided Single Submitter	CA358223058	rs_774035109	1 SubmittersRCV003474333
NM_152618.3(BBS12):c.1145T>A (p.Leu382Ter)	SNV Unknown	Chr4:122743037	Likely pathogenic	Bardet-Biedl syndrome 12	Criteria Provided Single Submitter	CA358224489	rs_1800911222	1 SubmittersRCV003474335
NM_152618.3(BBS12):c.1204C>T (p.Gln402Ter)	SNV Germline	Chr4:122743096	Pathogenic	Bardet-Biedl syndrome	Criteria Provided Multiple Submitters No Conflicts	CA358224623	rs_2485075660	2 SubmittersRCV003486517
NM_152618.3(BBS12):c.1246G>T (p.Gly416Ter)	SNV Germline	Chr4:122743138	Pathogenic	Bardet-Biedl syndrome	Criteria Provided Single Submitter	CA358224712	rs_751384954	1 SubmittersRCV003524794
NM_152618.3(BBS12):c.1188G>A (p.Trp396Ter)	SNV Germline	Chr4:122743080	Pathogenic	Bardet-Biedl syndrome	Criteria Provided Single Submitter	CA358224586	rs_2485075571	1 SubmittersRCV003634765
NM_152618.3(BBS12):c.1559G>A (p.Trp520Ter)	SNV Germline	Chr4:122743451	Pathogenic	Bardet-Biedl syndrome	Criteria Provided Single Submitter	CA358225384	rs_2485077223	1 SubmittersRCV003634922
NM_152618.3(BBS12):c.202C>T (p.Gln68Ter)	SNV Germline	Chr4:122742094	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome Bardet-Biedl syndrome 12	Criteria Provided Multiple Submitters No Conflicts	CA3069255	rs_752586913	4 SubmittersRCV003634035 RCV005036997
NM_152618.3(BBS12):c.1042G>T (p.Glu348Ter)	SNV Unknown	Chr4:122742934	Likely pathogenic	Bardet-Biedl syndrome 12	Criteria Provided Single Submitter		rs_1560707540	1 SubmittersRCV004574003
NM_152618.3(BBS12):c.376G>T (p.Glu126Ter)	SNV Germline	Chr4:122742268	Likely pathogenic	Bardet-Biedl syndrome 12	Criteria Provided Single Submitter		rs_934909698	1 SubmittersRCV004578003
NM_152618.3(BBS12):c.1638T>A (p.Cys546Ter)	SNV Germline	Chr4:122743530	Pathogenic	Retinal dystrophy	No Assertion Criteria Provided			1 SubmittersRCV004814331
NM_152618.3(BBS12):c.243T>A (p.Tyr81Ter)	SNV Germline	Chr4:122742135	Pathogenic	BBS12-related disorder Bardet-Biedl syndrome	Criteria Provided Single Submitter			2 SubmittersRCV004724503 RCV006689665
NM_152618.3(BBS12):c.367T>C (p.Cys123Arg)	SNV Germline	Chr4:122742259	Likely pathogenic	Bardet-Biedl syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005419805
NM_152618.3(BBS12):c.1566T>A (p.Cys522Ter)	SNV Germline	Chr4:122743458	Likely pathogenic	Bardet-Biedl syndrome 12	Criteria Provided Single Submitter			1 SubmittersRCV005037316
NM_152618.3(BBS12):c.1572T>A (p.Tyr524Ter)	SNV Germline	Chr4:122743464	Likely pathogenic	Bardet-Biedl syndrome 12	Criteria Provided Single Submitter			1 SubmittersRCV005037317
NM_152618.3(BBS12):c.1697C>G (p.Ser566Ter)	SNV Germline	Chr4:122743589	Likely pathogenic	Bardet-Biedl syndrome 12	Criteria Provided Single Submitter			1 SubmittersRCV005037322
NM_152618.3(BBS12):c.638C>G (p.Ser213Ter)	SNV Germline	Chr4:122742530	Pathogenic	Bardet-Biedl syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005122849
NM_152618.3(BBS12):c.1421G>A (p.Trp474Ter)	SNV Unknown	Chr4:122743313	Pathogenic	Bardet-Biedl syndrome 12	Criteria Provided Single Submitter			1 SubmittersRCV005637845
NM_152618.3(BBS12):c.1615G>T (p.Gly539Cys)	SNV Germline	Chr4:122743507	Likely pathogenic	Bardet-Biedl syndrome 12	Criteria Provided Single Submitter			1 SubmittersRCV006553789
NM_152618.3(BBS12):c.2133G>C (p.Ter711Tyr)	SNV Germline	Chr4:122744025	Likely pathogenic	Bardet-Biedl syndrome 12	Criteria Provided Single Submitter			1 SubmittersRCV006641905
NM_152618.3(BBS12):c.850A>T (p.Lys284Ter)	SNV Germline	Chr4:122742742	Likely pathogenic	Bardet-Biedl syndrome 12	Criteria Provided Single Submitter			1 SubmittersRCV006641911

NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter)

SNV
Germline

Chr4:122742955

Pathogenic

Bardet-Biedl syndrome 12
Bardet-Biedl syndrome
Inability to walk
Abnormal cardiovascular system morphology
Polydactyly, postaxial, type A1
Visual impairment
Bardet-Biedl syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA251706

rs_121918327

14 SubmittersRCV000001206 RCV000538405 RCV000626780 RCV003228891 RCV005256546

NM_152618.3(BBS12):c.865G>C (p.Ala289Pro)

SNV
Germline

Chr4:122742757

Likely pathogenic

Bardet-Biedl syndrome 12
Retinal dystrophy
Bardet-Biedl syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA251711

rs_121918328

6 SubmittersRCV000001209 RCV001073577 RCV001042718 RCV004719606

NM_152618.3(BBS12):c.323C>G (p.Pro108Arg)

SNV
Germline

Chr4:122742215

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA265992

rs_151344630

1 SubmittersRCV000058869

NM_152618.3(BBS12):c.116T>C (p.Ile39Thr)

SNV
Germline

Chr4:122742008

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bardet-Biedl syndrome 12
Bardet-Biedl syndrome 1
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA149562

rs_138036823

15 SubmittersRCV000082656 RCV000513736 RCV000626298 RCV000709646 RCV001080843

NM_152618.3(BBS12):c.1506C>T (p.Ala502=)

SNV
Germline

Chr4:122743398

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome
Bardet-Biedl syndrome 12

Criteria Provided
Conflicting Classifications

CA233512

rs_144855583

4 SubmittersRCV000152834 RCV001084674 RCV001272725

NM_152618.3(BBS12):c.979T>A (p.Ser327Thr)

SNV
Germline

Chr4:122742871

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
BBS12-related disorder

Criteria Provided
Conflicting Classifications

CA241840

rs_116805550

3 SubmittersRCV000175979 RCV002516696 RCV003907579

NM_152618.3(BBS12):c.978T>A (p.Thr326=)

SNV
Germline

Chr4:122742870

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome
Bardet-Biedl syndrome 12
BBS12-related disorder

Criteria Provided
Conflicting Classifications

CA241843

rs_115635198

5 SubmittersRCV000175980 RCV001084799 RCV001832004 RCV003907580

NM_152618.3(BBS12):c.1704G>A (p.Trp568Ter)

SNV
Germline

Chr4:122743596

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA275090

rs_747904021

1 SubmittersRCV000175982

NM_152618.3(BBS12):c.212A>G (p.Asn71Ser)

SNV
Germline

Chr4:122742104

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
not specified
Bardet-Biedl syndrome 12
Condition: not provided

Criteria Provided
Conflicting Classifications

CA338134

rs_143960329

6 SubmittersRCV000198717 RCV000393607 RCV001144903 RCV001657986

NM_152618.3(BBS12):c.1257C>T (p.Ser419=)

SNV
Germline

Chr4:122743149

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 12
BBS12-related disorder

Criteria Provided
Conflicting Classifications

CA349162

rs_34652786

4 SubmittersRCV000204980 RCV001094856 RCV003937776

NM_152618.3(BBS12):c.1574G>A (p.Arg525His)

SNV
Germline

Chr4:122743466

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
not specified
Bardet-Biedl syndrome 12
BBS12-related disorder

Criteria Provided
Conflicting Classifications

CA348258

rs_776730549

9 SubmittersRCV000203973 RCV000499807 RCV000668722 RCV004745281

NM_152618.3(BBS12):c.2020C>T (p.Arg674Cys)

SNV
Germline

Chr4:122743912

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome 12
Retinal dystrophy
Bardet-Biedl syndrome
Inborn genetic diseases
BBS12-related disorder

Criteria Provided
Conflicting Classifications

CA3069551

rs_759088490

10 SubmittersRCV000493625 RCV000669934 RCV001075674 RCV001089798 RCV002518825 RCV004745317

NM_152618.3(BBS12):c.1277G>A (p.Cys426Tyr)

SNV
Germline

Chr4:122743169

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 12
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA10617032

rs_886059058

3 SubmittersRCV000669919 RCV001386881

NM_152618.3(BBS12):c.1499T>C (p.Val500Ala)

SNV
Germline

Chr4:122743391

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 12
BBS12-related disorder
Condition: not provided
BBS12-related ciliopathy

Criteria Provided
Conflicting Classifications

CA3069461

rs_145392789

9 SubmittersRCV000399304 RCV001094948 RCV003932413 RCV004546486 RCV005355670

NM_152618.3(BBS12):c.1590A>G (p.Leu530=)

SNV
Germline

Chr4:122743482

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 12
BBS12-related disorder

Criteria Provided
Conflicting Classifications

CA10617036

rs_886059059

3 SubmittersRCV000308593 RCV001094949 RCV004745356

NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter)

SNV
Germline

Chr4:122743915

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 12
Condition: not provided
BBS12-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA3069552

rs_752202089

16 SubmittersRCV000302878 RCV000670073 RCV001091376 RCV003418071

NM_152618.3(BBS12):c.2100T>C (p.Asn700=)

SNV
Germline

Chr4:122743992

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 12

Criteria Provided
Conflicting Classifications

CA3069566

rs_145847043

3 SubmittersRCV000360072 RCV001094787

NM_152618.3(BBS12):c.1504G>T (p.Ala502Ser)

SNV
Germline

Chr4:122743396

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA3069464

rs_142593414

4 SubmittersRCV000487758 RCV001199434

NM_152618.3(BBS12):c.1859A>G (p.Gln620Arg)

SNV
Germline

Chr4:122743751

Conflicting classifications of pathogenicity

not specified
Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Bardet-Biedl syndrome 12
Condition: not provided
BBS12-related disorder
BBS12-related ciliopathy

Criteria Provided
Conflicting Classifications

CA3069524

rs_139278612

12 SubmittersRCV000499698 RCV000625333 RCV000709681 RCV001145003 RCV001584212 RCV003424055 RCV005356018

NM_152618.3(BBS12):c.1237C>G (p.Leu413Val)

SNV
Germline

Chr4:122743129

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Bardet-Biedl syndrome
Bardet-Biedl syndrome 12
BBS12-related disorder

Criteria Provided
Conflicting Classifications

CA3069405

rs_758217005

9 SubmittersRCV000512649 RCV001073517 RCV001047657 RCV001829459 RCV004745433

NM_152618.3(BBS12):c.104C>A (p.Ser35Ter)

SNV
Germline

Chr4:122741996

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Condition: not provided
Bardet-Biedl syndrome 12

Criteria Provided
Multiple Submitters
No Conflicts

CA358222190

rs_1381368546

5 SubmittersRCV000525828 RCV001821531 RCV001834777

NM_152618.3(BBS12):c.714T>G (p.Asn238Lys)

SNV
Germline

Chr4:122742606

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Bardet-Biedl syndrome 12
not specified

Criteria Provided
Conflicting Classifications

CA3069317

rs_17006082

7 SubmittersRCV000546031 RCV000709645 RCV001144905 RCV001821532

NM_152618.3(BBS12):c.1375C>T (p.Gln459Ter)

SNV
Germline

Chr4:122743267

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 12

Criteria Provided
Multiple Submitters
No Conflicts

CA358224980

rs_1269565757

5 SubmittersRCV000638353 RCV000669123

NM_152618.3(BBS12):c.682C>T (p.Gln228Ter)

SNV
Germline

Chr4:122742574

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 12
Bardet-Biedl syndrome
BBS12-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA3069312

rs_769588983

6 SubmittersRCV000665632 RCV001389867 RCV004745544

NM_152618.3(BBS12):c.1619G>T (p.Gly540Val)

SNV
Germline

Chr4:122743511

Pathogenic

Bardet-Biedl syndrome 12
Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA105249219

rs_1010403072

2 SubmittersRCV000665397 RCV001389937

NM_152618.3(BBS12):c.476C>T (p.Pro159Leu)

SNV
Germline

Chr4:122742368

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 12
Retinal dystrophy
Bardet-Biedl syndrome
BBS12-related disorder

Criteria Provided
Conflicting Classifications

CA358223022

rs_1450190654

7 SubmittersRCV000671341 RCV001074269 RCV001046755 RCV003420188

NM_152618.3(BBS12):c.1616G>T (p.Gly539Val)

SNV
Germline

Chr4:122743508

Likely pathogenic

Bardet-Biedl syndrome 12

Criteria Provided
Single Submitter

CA3069485

rs_755314355

2 SubmittersRCV000671131

NM_152618.3(BBS12):c.1749C>G (p.Tyr583Ter)

SNV
Unknown

Chr4:122743641

Likely pathogenic

Bardet-Biedl syndrome 12

Criteria Provided
Single Submitter

CA358225791

rs_1284876635

2 SubmittersRCV000672380

NM_152618.3(BBS12):c.640C>T (p.Arg214Ter)

SNV
Germline

Chr4:122742532

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 12
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA3069304

rs_745448288

4 SubmittersRCV000674776 RCV002531359

NM_152618.3(BBS12):c.760G>T (p.Glu254Ter)

SNV
Germline

Chr4:122742652

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 12
Retinal dystrophy
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA358223637

rs_1553941304

5 SubmittersRCV000671908 RCV001075655 RCV001855571

NM_152618.3(BBS12):c.1949C>G (p.Ser650Ter)

SNV
Germline

Chr4:122743841

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 12
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA358226233

rs_1553941580

5 SubmittersRCV000669174 RCV003633531

NM_152618.3(BBS12):c.1055A>C (p.Gln352Pro)

SNV
Germline

Chr4:122742947

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 12
Bardet-Biedl syndrome
not specified
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3069364

rs_767068756

8 SubmittersRCV000678525 RCV000735935 RCV001375584 RCV004794437

NM_152618.3(BBS12):c.65T>C (p.Phe22Ser)

SNV
Germline

Chr4:122741957

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Condition: not provided
Bardet-Biedl syndrome 12

Criteria Provided
Conflicting Classifications

CA3069231

rs_565073445

6 SubmittersRCV000735938 RCV001779068 RCV001825408

NM_152618.3(BBS12):c.1502C>T (p.Thr501Met)

SNV
Germline

Chr4:122743394

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Retinal dystrophy
Bardet-Biedl syndrome 12
Condition: not provided
BBS12-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA3069462

rs_138011813

11 SubmittersRCV000735937 RCV001075675 RCV001784348 RCV003235371 RCV004745562

NM_152618.3(BBS12):c.250G>A (p.Gly84Arg)

SNV
Germline

Chr4:122742142

Likely pathogenic

Bardet-Biedl syndrome 12

Criteria Provided
Single Submitter

CA358222512

rs_1578489760

1 SubmittersRCV000855445

NM_152618.3(BBS12):c.1223A>G (p.Lys408Arg)

SNV
Unknown

Chr4:122743115

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA358224666

rs_1578491064

1 SubmittersRCV000787788

NM_152618.3(BBS12):c.1225G>A (p.Val409Met)

SNV
Germline

Chr4:122743117

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA358224669

rs_1578491070

1 SubmittersRCV000816362

NM_152618.3(BBS12):c.2014G>A (p.Ala672Thr)

SNV
Germline

Chr4:122743906

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 12
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3069548

rs_140895713

5 SubmittersRCV000860588 RCV001145005 RCV001567696

NM_152618.3(BBS12):c.1995T>C (p.Val665=)

SNV
Germline

Chr4:122743887

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 12
Bardet-Biedl syndrome
not specified

Criteria Provided
Conflicting Classifications

CA3069543

rs_771980986

4 SubmittersRCV001145004 RCV001394850 RCV003151167

NM_152618.3(BBS12):c.1465G>A (p.Ala489Thr)

SNV
Germline

Chr4:122743357

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 12
BBS12-related disorder
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3069454

rs_145489987

7 SubmittersRCV001039272 RCV001272723 RCV003396637 RCV004963009 RCV006446004

NM_152618.3(BBS12):c.789C>A (p.Tyr263Ter)

SNV
Germline

Chr4:122742681

Pathogenic/Likely pathogenic

Retinal dystrophy
Bardet-Biedl syndrome
Bardet-Biedl syndrome 12

Criteria Provided
Multiple Submitters
No Conflicts

CA105249185

rs_974173261

4 SubmittersRCV001075658 RCV002554767 RCV003473708

NM_152618.3(BBS12):c.1394T>C (p.Val465Ala)

SNV
Germline

Chr4:122743286

Conflicting classifications of pathogenicity

Retinal dystrophy
Bardet-Biedl syndrome
Bardet-Biedl syndrome 12

Criteria Provided
Conflicting Classifications

CA358225023

rs_1357690062

5 SubmittersRCV001074308 RCV001237705 RCV001833686

NM_152618.3(BBS12):c.1698A>G (p.Ser566=)

SNV
Germline

Chr4:122743590

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 12
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA3069494

rs_746904755

2 SubmittersRCV001151113 RCV001435090

NM_152618.3(BBS12):c.2016G>A (p.Ala672=)

SNV
Germline

Chr4:122743908

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 12
Bardet-Biedl syndrome
BBS12-related disorder

Criteria Provided
Conflicting Classifications

CA3069549

rs_186713451

3 SubmittersRCV001145006 RCV001450117 RCV004746253

NM_152618.3(BBS12):c.1262G>A (p.Arg421His)

SNV
Germline

Chr4:122743154

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 12
BBS12-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3069411

rs_778351153

5 SubmittersRCV001208805 RCV001828673 RCV004746270 RCV005520454

NM_152618.3(BBS12):c.898C>T (p.Gln300Ter)

SNV
Germline

Chr4:122742790

Pathogenic

Bardet-Biedl syndrome 12
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA3069345

rs_754448484

2 SubmittersRCV003473802 RCV001233077

NM_152618.3(BBS12):c.1616G>A (p.Gly539Asp)

SNV
Germline

Chr4:122743508

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 12
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA358225508

rs_755314355

4 SubmittersRCV001281168 RCV003523090

NM_152618.3(BBS12):c.1276T>C (p.Cys426Arg)

SNV
Germline

Chr4:122743168

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 12
Bardet-Biedl syndrome
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA3069413

rs_771456483

5 SubmittersRCV001331784 RCV001871824 RCV001587350

NM_152618.3(BBS12):c.1627G>A (p.Glu543Lys)

SNV
Germline

Chr4:122743519

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA358225526

rs_1800928868

2 SubmittersRCV001348093

NM_152618.3(BBS12):c.172G>T (p.Glu58Ter)

SNV
Germline

Chr4:122742064

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 12

Criteria Provided
Multiple Submitters
No Conflicts

CA3069253

rs_759455327

4 SubmittersRCV001389631 RCV001826183

NM_152618.3(BBS12):c.445C>T (p.Gln149Ter)

SNV
Germline

Chr4:122742337

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 12

Criteria Provided
Multiple Submitters
No Conflicts

CA358222947

rs_1194574169

5 SubmittersRCV001381650 RCV002493922

NM_152618.3(BBS12):c.1827C>G (p.Tyr609Ter)

SNV
Germline

Chr4:122743719

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA358225962

rs_1800933874

1 SubmittersRCV001381296

NM_152618.3(BBS12):c.2053C>T (p.Gln685Ter)

SNV
Germline

Chr4:122743945

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 12

Criteria Provided
Multiple Submitters
No Conflicts

CA358226456

rs_746020725

2 SubmittersRCV001381938 RCV003473938

NM_152618.3(BBS12):c.1175C>G (p.Ser392Ter)

SNV
Germline

Chr4:122743067

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome
Bardet-Biedl syndrome 12
BBS12-related disorder

Criteria Provided
Conflicting Classifications

CA105249199

rs_747159816

6 SubmittersRCV001757163 RCV001868465 RCV003474020 RCV004746442

NM_152618.3(BBS12):c.1972C>T (p.Gln658Ter)

SNV
Germline

Chr4:122743864

Likely pathogenic

Bardet-Biedl syndrome 12

Criteria Provided
Single Submitter

CA358226286

rs_2150737953

1 SubmittersRCV001780675

NM_152618.3(BBS12):c.940A>G (p.Arg314Gly)

SNV
Germline

Chr4:122742832

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
not specified
Bardet-Biedl syndrome 12

Criteria Provided
Conflicting Classifications

CA3069350

rs_749107412

3 SubmittersRCV001869698 RCV001819557 RCV006638969

NM_152618.3(BBS12):c.356G>A (p.Gly119Asp)

SNV
Germline

Chr4:122742248

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 12

Criteria Provided
Conflicting Classifications

CA358222743

rs_2150736114

2 SubmittersRCV001877517 RCV002490074

NM_152618.3(BBS12):c.1048C>T (p.Gln350Ter)

SNV
Germline

Chr4:122742940

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA358224285

rs_1375925950

1 SubmittersRCV001970067

NM_152618.3(BBS12):c.1733C>A (p.Ser578Ter)

SNV
Germline

Chr4:122743625

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 12

Criteria Provided
Multiple Submitters
No Conflicts

CA358225758

rs_1800931751

4 SubmittersRCV001958721 RCV003475251

NM_152618.3(BBS12):c.1291C>T (p.Arg431Trp)

SNV
Germline

Chr4:122743183

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
not specified

Criteria Provided
Conflicting Classifications

CA105249202

rs_756955366

3 SubmittersRCV002005178 RCV005238128

NM_152618.3(BBS12):c.1724G>A (p.Trp575Ter)

SNV
Germline

Chr4:122743616

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA358225741

rs_2150737680

1 SubmittersRCV001979717

NM_152618.3(BBS12):c.1768T>C (p.Phe590Leu)

SNV
Germline

Chr4:122743660

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3069503

rs_767882942

2 SubmittersRCV001961156 RCV004603113

NM_152618.3(BBS12):c.22G>A (p.Val8Ile)

SNV
Germline

Chr4:122741914

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA358222022

rs_1351171130

2 SubmittersRCV002602580 RCV005774560

NM_152618.3(BBS12):c.880T>G (p.Tyr294Asp)

SNV
Germline

Chr4:122742772

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
not specified

Criteria Provided
Conflicting Classifications

CA358223906

rs_2485074365

2 SubmittersRCV002616888 RCV005406482

NM_152618.3(BBS12):c.1709A>C (p.His570Pro)

SNV
Germline

Chr4:122743601

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
BBS12-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3069497

rs_770047331

3 SubmittersRCV002895290 RCV004747142 RCV004966140

NM_152618.3(BBS12):c.1993G>A (p.Val665Ile)

SNV
Germline

Chr4:122743885

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
BBS12-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3069542

rs_369696220

3 SubmittersRCV002908112 RCV003409955 RCV004966143

NM_152618.3(BBS12):c.1799C>G (p.Ser600Ter)

SNV
Germline

Chr4:122743691

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 12

Criteria Provided
Multiple Submitters
No Conflicts

CA358225902

rs_2485078084

2 SubmittersRCV002958812 RCV003475457

NM_152618.3(BBS12):c.1786C>T (p.Gln596Ter)

SNV
Unknown

Chr4:122743678

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA358225871

rs_2485078040

1 SubmittersRCV003222519

NM_152618.3(BBS12):c.1589T>C (p.Leu530Pro)

SNV
Germline

Chr4:122743481

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA358225448

rs_2485077370

1 SubmittersRCV003405032

NM_152618.3(BBS12):c.1560G>A (p.Trp520Ter)

SNV
Unknown

Chr4:122743452

Likely pathogenic

Bardet-Biedl syndrome 12

Criteria Provided
Single Submitter

CA358225387

rs_2485077226

1 SubmittersRCV003474324

NM_152618.3(BBS12):c.1339G>T (p.Glu447Ter)

SNV
Unknown

Chr4:122743231

Likely pathogenic

Bardet-Biedl syndrome 12

Criteria Provided
Single Submitter

CA358224912

rs_2485076250

1 SubmittersRCV003474325

NM_152618.3(BBS12):c.1910T>A (p.Leu637Ter)

SNV
Unknown

Chr4:122743802

Likely pathogenic

Bardet-Biedl syndrome 12

Criteria Provided
Single Submitter

CA358226137

rs_1177246173

1 SubmittersRCV003474327

NM_152618.3(BBS12):c.1531C>T (p.Gln511Ter)

SNV
Germline

Chr4:122743423

Likely pathogenic

Bardet-Biedl syndrome 12
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA358225313

rs_1800925762

2 SubmittersRCV003474329 RCV005871179

NM_152618.3(BBS12):c.1537C>T (p.Gln513Ter)

SNV
Unknown

Chr4:122743429

Likely pathogenic

Bardet-Biedl syndrome 12

Criteria Provided
Single Submitter

CA358225329

rs_1022524996

1 SubmittersRCV003474332

NM_152618.3(BBS12):c.494C>G (p.Ser165Ter)

SNV
Unknown

Chr4:122742386

Likely pathogenic

Bardet-Biedl syndrome 12

Criteria Provided
Single Submitter

CA358223058

rs_774035109

1 SubmittersRCV003474333

NM_152618.3(BBS12):c.1145T>A (p.Leu382Ter)

SNV
Unknown

Chr4:122743037

Likely pathogenic

Bardet-Biedl syndrome 12

Criteria Provided
Single Submitter

CA358224489

rs_1800911222

1 SubmittersRCV003474335

NM_152618.3(BBS12):c.1204C>T (p.Gln402Ter)

SNV
Germline

Chr4:122743096

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA358224623

rs_2485075660

2 SubmittersRCV003486517

NM_152618.3(BBS12):c.1246G>T (p.Gly416Ter)

SNV
Germline

Chr4:122743138

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA358224712

rs_751384954

1 SubmittersRCV003524794

NM_152618.3(BBS12):c.1188G>A (p.Trp396Ter)

SNV
Germline

Chr4:122743080

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA358224586

rs_2485075571

1 SubmittersRCV003634765

NM_152618.3(BBS12):c.1559G>A (p.Trp520Ter)

SNV
Germline

Chr4:122743451

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA358225384

rs_2485077223

1 SubmittersRCV003634922

NM_152618.3(BBS12):c.202C>T (p.Gln68Ter)

SNV
Germline

Chr4:122742094

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 12

Criteria Provided
Multiple Submitters
No Conflicts

CA3069255

rs_752586913

4 SubmittersRCV003634035 RCV005036997

NM_152618.3(BBS12):c.1042G>T (p.Glu348Ter)

SNV
Unknown

Chr4:122742934

Likely pathogenic

Bardet-Biedl syndrome 12

Criteria Provided
Single Submitter

rs_1560707540

1 SubmittersRCV004574003

NM_152618.3(BBS12):c.376G>T (p.Glu126Ter)

SNV
Germline

Chr4:122742268

Likely pathogenic

Bardet-Biedl syndrome 12

Criteria Provided
Single Submitter

rs_934909698

1 SubmittersRCV004578003

NM_152618.3(BBS12):c.1638T>A (p.Cys546Ter)

SNV
Germline

Chr4:122743530

Pathogenic

Retinal dystrophy

No Assertion Criteria Provided

1 SubmittersRCV004814331

NM_152618.3(BBS12):c.243T>A (p.Tyr81Ter)

SNV
Germline

Chr4:122742135

Pathogenic

BBS12-related disorder
Bardet-Biedl syndrome

Criteria Provided
Single Submitter

2 SubmittersRCV004724503 RCV006689665

NM_152618.3(BBS12):c.367T>C (p.Cys123Arg)

SNV
Germline

Chr4:122742259

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005419805

NM_152618.3(BBS12):c.1566T>A (p.Cys522Ter)

SNV
Germline

Chr4:122743458

Likely pathogenic

Bardet-Biedl syndrome 12

Criteria Provided
Single Submitter

1 SubmittersRCV005037316

NM_152618.3(BBS12):c.1572T>A (p.Tyr524Ter)

SNV
Germline

Chr4:122743464

Likely pathogenic

Bardet-Biedl syndrome 12

Criteria Provided
Single Submitter

1 SubmittersRCV005037317

NM_152618.3(BBS12):c.1697C>G (p.Ser566Ter)

SNV
Germline

Chr4:122743589

Likely pathogenic

Bardet-Biedl syndrome 12

Criteria Provided
Single Submitter

1 SubmittersRCV005037322

NM_152618.3(BBS12):c.638C>G (p.Ser213Ter)

SNV
Germline

Chr4:122742530

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005122849

NM_152618.3(BBS12):c.1421G>A (p.Trp474Ter)

SNV
Unknown

Chr4:122743313

Pathogenic

Bardet-Biedl syndrome 12

Criteria Provided
Single Submitter

1 SubmittersRCV005637845

NM_152618.3(BBS12):c.1615G>T (p.Gly539Cys)

SNV
Germline

Chr4:122743507

Likely pathogenic

Bardet-Biedl syndrome 12

Criteria Provided
Single Submitter

1 SubmittersRCV006553789

NM_152618.3(BBS12):c.2133G>C (p.Ter711Tyr)

SNV
Germline

Chr4:122744025

Likely pathogenic

Bardet-Biedl syndrome 12

Criteria Provided
Single Submitter

1 SubmittersRCV006641905

NM_152618.3(BBS12):c.850A>T (p.Lys284Ter)

SNV
Germline

Chr4:122742742

Likely pathogenic

Bardet-Biedl syndrome 12

Criteria Provided
Single Submitter

1 SubmittersRCV006641911