Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_015910.7(WDPCP):c.76-1G>T	SNV Germline	Chr2:63492941	Pathogenic	Bardet-Biedl syndrome 15	No Assertion Criteria Provided	CA251366	rs_397704728	1 SubmittersRCV000000062
NM_006642.5(SDCCAG8):c.740+356C>T	SNV Germline	Chr1:243305133	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 Bardet-Biedl syndrome Senior-Loken syndrome 7 Bardet-Biedl syndrome 16 SDCCAG8-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA251367	rs_397515337	7 SubmittersRCV000000077 RCV000760978 RCV002265541 RCV002476900 RCV004532265 RCV005632148
NM_006642.5(SDCCAG8):c.679A>T (p.Lys227Ter)	SNV Germline	Chr1:243304716	Pathogenic	Bardet-Biedl syndrome 16 Bardet-Biedl syndrome 16 Senior-Loken syndrome 7	Criteria Provided Single Submitter	CA251368	rs_267607031	2 SubmittersRCV000000078 RCV003764499
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_024685.4(BBS10):c.101G>C (p.Arg34Pro)	SNV Germline	Chr12:76348258	Likely pathogenic	Bardet-Biedl syndrome 10	Criteria Provided Single Submitter	CA251747	rs_137852836	3 SubmittersRCV000001392
NM_024685.4(BBS10):c.931T>G (p.Ser311Ala)	SNV Germline	Chr12:76347054	Pathogenic	Bardet-Biedl syndrome 10 Condition: not provided Bardet-Biedl syndrome Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA251748	rs_137852837	5 SubmittersRCV000001394 RCV001093324 RCV001328242 RCV004814790
NM_024685.4(BBS10):c.32T>G (p.Val11Gly)	SNV Germline	Chr12:76348327	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 10	No Assertion Criteria Provided	CA251749	rs_137852838	2 SubmittersRCV000001395
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)	SNV Germline	Chr12:88077263	Conflicting classifications of pathogenicity	Joubert syndrome 5 Condition: not provided Meckel-Gruber syndrome Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Joubert syndrome 5 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Retinitis pigmentosa Retinal dystrophy Meckel syndrome, type 4 Joubert syndrome 5 Senior-Loken syndrome 6 Meckel syndrome, type 6 Leber congenital amaurosis COG7 congenital disorder of glycosylation Abnormality of the nervous system Bardet-Biedl syndrome 14 Joubert syndrome 5 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 CEP290-related disorder Leber congenital amaurosis 10	Criteria Provided Conflicting Classifications	CA150917	rs_137852832	34 SubmittersRCV000001396 RCV000086298 RCV000114202 RCV000531295 RCV000515339 RCV000787813 RCV001073790 RCV001000092 RCV001002714 RCV001261607 RCV001276487 RCV001815157 RCV001836688 RCV001542773 RCV001836689 RCV003147273 RCV004798711
NM_025114.4(CEP290):c.2991+1655A>G	SNV Germline	Chr12:88101183	Pathogenic	Leber congenital amaurosis 10 Condition: not provided Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Retinitis pigmentosa Joubert syndrome 5 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Joubert syndrome 1 Retinal dystrophy Joubert syndrome 5 Intellectual disability CEP290-related disorder Leber congenital amaurosis Bardet-Biedl syndrome 14 Autosomal recessive CEP290-related disorders CEP290-related ciliopathy	Reviewed By Expert Panel	CA227965	rs_281865192	28 SubmittersRCV000001400 RCV000086286 RCV000558460 RCV000678535 RCV000763315 RCV000988884 RCV001075828 RCV001196010 RCV001255341 RCV001731267 RCV001831503 RCV003460403 RCV006695480 RCV006731762
NM_025114.4(CEP290):c.2249T>G (p.Leu750Ter)	SNV Germline	Chr12:88111320	Pathogenic	Leber congenital amaurosis 10 Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Bardet-Biedl syndrome 14 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA339890	rs_137852833	4 SubmittersRCV000001401 RCV001851541 RCV003466777 RCV006638513
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)	SNV Germline	Chr12:88083936	Pathogenic	Joubert syndrome 5 Leber congenital amaurosis 10 Blindness Molar tooth sign on MRI Nystagmus Central hypotonia Condition: not provided not specified Joubert syndrome 5 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Retinal dystrophy Senior-Loken syndrome 6 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Leber congenital amaurosis CEP290-related ciliopathy CEP290-related disorder Bardet-Biedl syndrome 14 Inborn genetic diseases See cases	Reviewed By Expert Panel	CA251751	rs_137852834	26 SubmittersRCV000001402 RCV000001403 RCV000415219 RCV000415120 RCV000484693 RCV000508230 RCV000763312 RCV001075829 RCV001002715 RCV001046610 RCV001831504 RCV003492281 RCV003155008 RCV003466778 RCV004975257 RCV005887184
NM_025114.4(CEP290):c.613C>T (p.Arg205Ter)	SNV Germline	Chr12:88130324	Pathogenic	Meckel syndrome, type 4 Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Polycystic kidney disease Severe hydrocephalus Encephalocele Leber congenital amaurosis Leber congenital amaurosis 10 Condition: not provided Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Retinal dystrophy CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA114937	rs_137852835	10 SubmittersRCV000001407 RCV001042869 RCV001257362 RCV001274134 RCV001376372 RCV001781163 RCV002496228 RCV003466779 RCV003887847 RCV004732519
NM_025114.4(CEP290):c.5704G>T (p.Glu1902Ter)	SNV Germline	Chr12:88077227	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 6 Leber congenital amaurosis 10	Criteria Provided Multiple Submitters No Conflicts	CA251753	rs_267606719	4 SubmittersRCV000001410 RCV000201631 RCV001261609 RCV004760315
NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys)	SNV Germline	Chr8:93780962	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 14, modifier of Nephronophthisis Condition: not provided Meckel syndrome, type 3 Nephronophthisis 11 Joubert syndrome Meckel-Gruber syndrome Joubert syndrome 6 RHYNS syndrome COACH syndrome 1 not specified TMEM67-related disorder Familial pancreatic carcinoma Thyroid cancer, nonmedullary, 1 6 conditions	Criteria Provided Conflicting Classifications	CA114968	rs_111619594	16 SubmittersRCV000001444 RCV000234830 RCV000725926 RCV001158405 RCV001158406 RCV001085857 RCV001158404 RCV001198570 RCV001333012 RCV003488318 RCV004528064 RCV005887185 RCV005887186 RCV005394103
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg)	SNV Germline	Chr8:93795970	Pathogenic/Likely pathogenic	Joubert syndrome 6 Nephronophthisis 11 Nephronophthisis Joubert syndrome Renal cyst Oligohydramnios TMEM67-related disorder Condition: not provided Joubert syndrome Meckel-Gruber syndrome Inborn genetic diseases 14 conditions Nephronophthisis 11 COACH syndrome 1 Joubert syndrome 6 Meckel syndrome, type 3 Bardet-Biedl syndrome 14 RHYNS syndrome 6 conditions Nephronophthisis 11 RHYNS syndrome COACH syndrome 1 Joubert syndrome 6 Joubert syndrome and related disorders Cholestatic liver disease	Criteria Provided Multiple Submitters No Conflicts	CA114977	rs_201893408	19 SubmittersRCV000001452 RCV000001451 RCV000234823 RCV000415055 RCV000283682 RCV000479077 RCV000534533 RCV000623857 RCV000627004 RCV000763610 RCV001197497 RCV005041963 RCV005357055 RCV005887187 RCV006647169
NM_017777.4(MKS1):c.80+2T>C	SNV Germline	Chr17:58219149	Pathogenic/Likely pathogenic	Meckel syndrome, type 1 Meckel syndrome, type 1 Joubert syndrome 28 Bardet-Biedl syndrome 13	No Assertion Criteria Provided	CA342695	rs_386834052	3 SubmittersRCV000022413 RCV000665702
NM_017777.4(MKS1):c.1024+1G>A	SNV Germline	Chr17:58210658	Pathogenic/Likely pathogenic	Meckel syndrome, type 1 Bardet-Biedl syndrome 13 Meckel syndrome, type 1 Joubert syndrome 28 Joubert syndrome Meckel-Gruber syndrome Condition: not provided Bardet-Biedl syndrome 13 MKS1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA342696	rs_199874059	9 SubmittersRCV000022414 RCV000668139 RCV001038005 RCV001570919 RCV003472957 RCV004732522
NM_017777.4(MKS1):c.417G>A (p.Glu139=)	SNV Germline	Chr17:58216088	Conflicting classifications of pathogenicity	Meckel syndrome, type 1 Joubert syndrome Condition: not provided Joubert syndrome Meckel-Gruber syndrome Meckel-Gruber syndrome Joubert syndrome 28 Meckel syndrome, type 1 Bardet-Biedl syndrome 13 Bardet-Biedl syndrome 13 Inborn genetic diseases MKS1-related disorder Uterine corpus endometrial carcinoma Uterine carcinosarcoma	Criteria Provided Conflicting Classifications	CA213122	rs_386834048	22 SubmittersRCV000022415 RCV000201633 RCV000341018 RCV000694137 RCV000605128 RCV000666711 RCV001123802 RCV004018536 RCV004528065 RCV005887189 RCV005887188
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp)	SNV Germline	Chr17:58206479	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 13 Bardet-Biedl syndrome 13 Joubert syndrome 28 Meckel syndrome, type 1 Polydactyly Hypotonia Nystagmus Joubert syndrome Meckel-Gruber syndrome Condition: not provided Joubert syndrome 28 MKS1-related disorder Meckel syndrome, type 1 Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA251777	rs_137853105	12 SubmittersRCV000001458 RCV000665962 RCV000626942 RCV001239533 RCV001578018 RCV001729331 RCV004532272 RCV004566669 RCV005357056
NM_001278293.3(ARL6):c.364C>T (p.Arg122Ter)	SNV Germline	Chr3:97788004	Pathogenic	Bardet-Biedl syndrome 3 Bardet-Biedl syndrome Retinitis pigmentosa 55 Bardet-Biedl syndrome 3 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA252067	rs_104893678	4 SubmittersRCV000002120 RCV001002871 RCV002512667 RCV004814794
NM_001278293.3(ARL6):c.506G>C (p.Gly169Ala)	SNV Germline	Chr3:97791797	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 1, modifier of Bardet-Biedl syndrome 3 Bardet-Biedl syndrome 3 Retinitis pigmentosa 55 Bardet-Biedl syndrome 3 Bardet-Biedl syndrome 1 Retinitis pigmentosa 55	Criteria Provided Multiple Submitters No Conflicts	CA115313	rs_104893679	3 SubmittersRCV000002122 RCV000002121 RCV002512668 RCV005024988
NM_001278293.3(ARL6):c.92C>T (p.Thr31Met)	SNV Germline	Chr3:97768199	Pathogenic	Bardet-Biedl syndrome 3 Retinitis pigmentosa Retinitis pigmentosa 55 Bardet-Biedl syndrome 3 Condition: not provided Bardet-Biedl syndrome 1 Retinitis pigmentosa 55 Bardet-Biedl syndrome 3	Criteria Provided Multiple Submitters No Conflicts	CA252069	rs_104893680	5 SubmittersRCV000002123 RCV001723532 RCV001851573 RCV003133114 RCV005031381
NM_001278293.3(ARL6):c.509T>G (p.Leu170Trp)	SNV Germline	Chr3:97791800	Pathogenic	Bardet-Biedl syndrome 3	No Assertion Criteria Provided	CA252071	rs_104893681	1 SubmittersRCV000002124
NM_001278293.3(ARL6):c.92C>G (p.Thr31Arg)	SNV Germline	Chr3:97768199	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 3 Bardet-Biedl syndrome 3 Retinitis pigmentosa 55 Retinal dystrophy Bardet-Biedl syndrome 3 Retinitis pigmentosa 55 Bardet-Biedl syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA252073	rs_104893680	4 SubmittersRCV000002125 RCV001063683 RCV004814795 RCV005024989
NM_144596.4(TTC8):c.489G>A (p.Thr163=)	SNV Germline	Chr14:88841196	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 8 Bardet-Biedl syndrome Postaxial foot polydactyly Truncal obesity Moderate intellectual disability Retinal dystrophy Retinitis pigmentosa 51 TTC8-related disorder Ovarian serous cystadenocarcinoma Bardet-Biedl syndrome 8 Retinitis pigmentosa 51 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA339995	rs_119103286	13 SubmittersRCV000002639 RCV000203928 RCV000415339 RCV001074706 RCV001197566 RCV003415630 RCV005887213 RCV005007809 RCV005434586
NM_144596.4(TTC8):c.624+1G>A	SNV Germline	Chr14:88843851	Pathogenic	Bardet-Biedl syndrome 8 Condition: not provided	No Assertion Criteria Provided	CA252323	rs_587777808	3 SubmittersRCV000002640 RCV001699099
NM_198428.3(BBS9):c.1789+1G>A	SNV Germline	Chr7:33367863	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 9 Condition: not provided Bardet-Biedl syndrome BBS9-related disorder Pancreatic adenocarcinoma	Criteria Provided Multiple Submitters No Conflicts	CA252383	rs_201938124	12 SubmittersRCV000002775 RCV000413775 RCV003522915 RCV004745141 RCV005887226
NM_198428.3(BBS9):c.1792C>T (p.Arg598Ter)	SNV Germline	Chr7:33383668	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 9 Bardet-Biedl syndrome Nephronophthisis 4	Criteria Provided Multiple Submitters No Conflicts	CA252384	rs_137852856	8 SubmittersRCV000002776 RCV000735941 RCV004813029
NM_198428.3(BBS9):c.421G>A (p.Gly141Arg)	SNV Germline	Chr7:33177570	Likely pathogenic	Bardet-Biedl syndrome 9 Bardet-Biedl syndrome	Criteria Provided Single Submitter	CA252387	rs_137852857	2 SubmittersRCV000002778 RCV004799728
NM_198428.3(BBS9):c.1063C>T (p.Gln355Ter)	SNV Germline	Chr7:33336487	Pathogenic	Bardet-Biedl syndrome 9 Bardet-Biedl syndrome Condition: not provided BBS9-related disorder Early onset severe obesity	Criteria Provided Multiple Submitters No Conflicts	CA252388	rs_137852858	7 SubmittersRCV000002779 RCV001002885 RCV003221780 RCV004745142 RCV006629046
NM_198428.3(BBS9):c.442+1G>C	SNV Germline	Chr7:33177592	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 9 Bardet-Biedl syndrome	Criteria Provided Multiple Submitters No Conflicts	CA252390	rs_587777811	5 SubmittersRCV000002780 RCV003522916
NM_176824.3(BBS7):c.968A>G (p.His323Arg)	SNV Germline	Chr4:121847473	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 7 Condition: not provided Bardet-Biedl syndrome BBS7-related disorder Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA252533	rs_119466001	10 SubmittersRCV000003151 RCV001091375 RCV001240994 RCV003964791 RCV004814815
NM_176824.3(BBS7):c.632C>T (p.Thr211Ile)	SNV Germline	Chr4:121854790	Pathogenic	Bardet-Biedl syndrome 1/7, digenic Bardet-Biedl syndrome Bardet-Biedl syndrome 7 BBS7-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA252534	rs_119466002	5 SubmittersRCV000003152 RCV000456825 RCV002482819 RCV004742210
NM_031885.5(BBS2):c.224T>G (p.Val75Gly)	SNV Germline	Chr16:56514574	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 2 Bardet-Biedl syndrome Retinitis pigmentosa 74 Bardet-Biedl syndrome 2 BBS2-related ciliopathy	Criteria Provided Multiple Submitters No Conflicts	CA253233	rs_121908174	8 SubmittersRCV000004831 RCV001002877 RCV005411280 RCV005632165
NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter)	SNV Germline	Chr16:56519791	Pathogenic/Likely pathogenic	BARDET-BIEDL SYNDROME 2/6, DIGENIC Bardet-Biedl syndrome 2 Bardet-Biedl syndrome Retinitis pigmentosa 74 Bardet-Biedl syndrome 2 Retinitis pigmentosa Retinal dystrophy BBS2-related disorder Condition: not provided Retinal disorder Early onset severe obesity	Criteria Provided Multiple Submitters No Conflicts	CA116926	rs_121908175	14 SubmittersRCV000004832 RCV000412476 RCV000589350 RCV000762970 RCV000787792 RCV001074960 RCV004732529 RCV005632166 RCV006253450 RCV006629050
NM_031885.5(BBS2):c.175C>T (p.Gln59Ter)	SNV Germline	Chr16:56514623	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 2 Bardet-Biedl syndrome Condition: not provided Retinitis pigmentosa 74 Bardet-Biedl syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA253235	rs_121908176	9 SubmittersRCV000004833 RCV000587533 RCV003441704 RCV002490314
NM_031885.5(BBS2):c.823C>T (p.Arg275Ter)	SNV Germline	Chr16:56502790	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 2 Bardet-Biedl syndrome Condition: not provided Retinal dystrophy Retinitis pigmentosa 74 Bardet-Biedl syndrome 2 Retinitis pigmentosa 74 BBS2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA253237	rs_121908177	18 SubmittersRCV000004834 RCV000269226 RCV000493074 RCV001074104 RCV000762967 RCV002466394 RCV004528072
NM_031885.5(BBS2):c.943C>T (p.Arg315Trp)	SNV Germline	Chr16:56502454	Pathogenic/Likely pathogenic	Bardet-biedl syndrome 2/4, digenic Bardet-Biedl syndrome 2 Bardet-Biedl syndrome Autosomal recessive retinitis pigmentosa Retinal dystrophy Bardet-Biedl syndrome 2 Retinitis pigmentosa 74 Retinitis pigmentosa 74	Criteria Provided Multiple Submitters No Conflicts	CA116928	rs_121908178	9 SubmittersRCV000004835 RCV000675099 RCV001226053 RCV001257834 RCV003887853 RCV005016240 RCV005867723
NM_031885.5(BBS2):c.311A>C (p.Asp104Ala)	SNV Germline	Chr16:56514487	Pathogenic	Bardet-biedl syndrome 1/2, digenic Retinitis pigmentosa 74 Bardet-Biedl syndrome Bardet-Biedl syndrome 2 Retinitis pigmentosa 74 Bardet-Biedl syndrome 2 Retinitis pigmentosa Condition: not provided BBS2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA116932	rs_121908179	13 SubmittersRCV000004839 RCV000190985 RCV000587645 RCV000665304 RCV000762969 RCV001002876 RCV001582466 RCV004532290
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro)	SNV Germline	Chr16:56496982	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 2 Retinitis pigmentosa 74 BBS2-related disorder Bardet-Biedl syndrome Retinitis pigmentosa Retinal dystrophy Condition: not provided Retinitis pigmentosa 74 Bardet-Biedl syndrome 2 Inborn genetic diseases Autosomal recessive BBS2-related disorders	Criteria Provided Multiple Submitters No Conflicts	CA060272	rs_138043021	21 SubmittersRCV000004840 RCV000190986 RCV000380902 RCV000589221 RCV001002874 RCV001073916 RCV001268711 RCV002490315 RCV002512776 RCV006694410
NM_031885.5(BBS2):c.118-1G>C	SNV Germline	Chr16:56514681	Likely pathogenic	Bardet-Biedl syndrome 2 Bardet-Biedl syndrome	Criteria Provided Single Submitter	CA253239	rs_587777825	2 SubmittersRCV000004841 RCV006461097
NM_031885.5(BBS2):c.646C>T (p.Arg216Ter)	SNV Germline	Chr16:56506191	Pathogenic	BARDET-BIEDL SYNDROME 2/6, DIGENIC Bardet-Biedl syndrome 2 Retinal dystrophy Bardet-Biedl syndrome Bardet-Biedl syndrome 2 Retinitis pigmentosa 74	Criteria Provided Multiple Submitters No Conflicts	CA116935	rs_121908180	10 SubmittersRCV000004845 RCV000668482 RCV000787791 RCV001056084 RCV005016241
NM_031885.5(BBS2):c.416G>T (p.Gly139Val)	SNV Germline	Chr16:56511214	Pathogenic	Bardet-Biedl syndrome 2	No Assertion Criteria Provided	CA253240	rs_121908181	1 SubmittersRCV000004846
NM_170784.3(MKKS):c.250C>T (p.His84Tyr)	SNV Germline	Chr20:10413265	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome McKusick-Kaufman syndrome Bardet-Biedl syndrome 6 Condition: not provided Bardet-Biedl syndrome	Criteria Provided Multiple Submitters No Conflicts	CA028791	rs_281797258	4 SubmittersRCV001865699 RCV003476316 RCV004701653 RCV005407746
NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys)	SNV Germline	Chr20:10413405	Pathogenic/Likely pathogenic	McKusick-Kaufman syndrome Bardet-Biedl syndrome 6 Condition: not provided McKusick-Kaufman syndrome Bardet-Biedl syndrome Bardet-Biedl syndrome 6 McKusick-Kaufman syndrome Retinal dystrophy Inborn genetic diseases Nephronophthisis Bardet-Biedl syndrome MKKS-related disorder Syndromic inherited retinal disease MKKS-related ciliopathy	Criteria Provided Multiple Submitters No Conflicts	CA170910	rs_74315396	21 SubmittersRCV000005633 RCV000005634 RCV000724561 RCV000824067 RCV000763444 RCV001075509 RCV001267323 RCV001328206 RCV002222341 RCV004532292 RCV005417416 RCV006249549
NM_170784.3(MKKS):c.155G>A (p.Gly52Asp)	SNV Germline	Chr20:10413360	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 6 McKusick-Kaufman syndrome Bardet-Biedl syndrome Bardet-Biedl syndrome 6 McKusick-Kaufman syndrome Bardet-Biedl syndrome	Criteria Provided Multiple Submitters No Conflicts	CA253459	rs_28937875	5 SubmittersRCV000005636 RCV001851674 RCV005025008 RCV005430918
NM_170784.3(MKKS):c.792T>A (p.Tyr264Ter)	SNV Germline	Chr20:10412723	Pathogenic	Bardet-Biedl syndrome 6	No Assertion Criteria Provided	CA253461	rs_74315397	1 SubmittersRCV000005637
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro)	SNV Germline	Chr20:10412685	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 6 Condition: not provided Inborn genetic diseases Bardet-Biedl syndrome McKusick-Kaufman syndrome Bardet-Biedl syndrome MKKS-related disorder McKusick-Kaufman syndrome Bardet-Biedl syndrome 6 McKusick-Kaufman syndrome	Criteria Provided Conflicting Classifications	CA243463	rs_74315398	13 SubmittersRCV000005639 RCV000481638 RCV001267056 RCV003230348 RCV001851675 RCV004532293 RCV003987313 RCV005025009
NM_170784.3(MKKS):c.169A>G (p.Thr57Ala)	SNV Germline	Chr20:10413346	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 6 McKusick-Kaufman syndrome Bardet-Biedl syndrome Condition: not provided McKusick-Kaufman syndrome	Criteria Provided Multiple Submitters No Conflicts	CA253464	rs_74315399	7 SubmittersRCV000005641 RCV001376920 RCV002307354 RCV000990288
NM_170784.3(MKKS):c.442C>T (p.Gln148Ter)	SNV Germline	Chr20:10413073	Pathogenic	BARDET-BIEDL SYNDROME 2/6, DIGENIC	No Assertion Criteria Provided	CA117400	rs_137853154	1 SubmittersRCV000005643
NM_170784.3(MKKS):c.1496G>C (p.Cys499Ser)	SNV Germline	Chr20:10405464	Pathogenic	BARDET-BIEDL SYNDROME 2/6, DIGENIC	No Assertion Criteria Provided	CA117403	rs_281797259	1 SubmittersRCV000005644
NM_152384.3(BBS5):c.522+3A>G	SNV Germline	Chr2:169493012	Pathogenic	Bardet-Biedl syndrome 5 Bardet-Biedl syndrome	Criteria Provided Single Submitter	CA253783	rs_587777828	2 SubmittersRCV000006532 RCV002307356
NM_152384.3(BBS5):c.425T>A (p.Leu142Ter)	SNV Germline	Chr2:169492912	Pathogenic	Bardet-Biedl syndrome 5	No Assertion Criteria Provided	CA349164684	rs_1574339529	1 SubmittersRCV000006533
NM_152384.3(BBS5):c.177G>A (p.Trp59Ter)	SNV Germline	Chr2:169487103	Pathogenic	Bardet-Biedl syndrome 5 Bardet-Biedl syndrome	Criteria Provided Single Submitter	CA59929675	rs_767221160	2 SubmittersRCV000006535 RCV003633480
NM_152384.3(BBS5):c.214G>A (p.Gly72Ser)	SNV Germline	Chr2:169487811	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 5 Bardet-Biedl syndrome	Criteria Provided Multiple Submitters No Conflicts	CA253784	rs_121908581	6 SubmittersRCV000006536 RCV000787535
NM_152384.3(BBS5):c.547A>G (p.Thr183Ala)	SNV Germline	Chr2:169493765	Pathogenic	Bardet-Biedl syndrome 5	No Assertion Criteria Provided	CA253785	rs_121908582	1 SubmittersRCV000006537
NM_012210.4(TRIM32):c.1459G>A (p.Asp487Asn)	SNV Germline	Chr9:116699201	Pathogenic	Sarcotubular myopathy Myopathy Bardet-Biedl syndrome Bardet-Biedl syndrome 11 Condition: not provided TRIM32-related disorder Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA118728	rs_111033570	9 SubmittersRCV000007775 RCV000414917 RCV000538874 RCV001198489 RCV001781203 RCV004748509 RCV004814854
NM_012210.4(TRIM32):c.388C>T (p.Pro130Ser)	SNV Germline	Chr9:116698130	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 11 Bardet-Biedl syndrome TRIM32-related disorder Condition: not provided Autosomal recessive TRIM32-related disorders	Criteria Provided Multiple Submitters No Conflicts	CA254151	rs_111033571	5 SubmittersRCV000007776 RCV000199127 RCV003904817 RCV003488330 RCV006635415
NM_012210.4(TRIM32):c.1181G>A (p.Arg394His)	SNV Germline	Chr9:116698923	Conflicting classifications of pathogenicity	Sarcotubular myopathy Condition: not provided Bardet-Biedl syndrome Bardet-Biedl syndrome 11 TRIM32-related disorder Bardet-Biedl syndrome 11 Sarcotubular myopathy	Criteria Provided Conflicting Classifications	CA118731	rs_121434447	7 SubmittersRCV000007778 RCV000362326 RCV000638363 RCV001334685 RCV004748510 RCV006713088
NM_033028.5(BBS4):c.884G>C (p.Arg295Pro)	SNV Germline	Chr15:72731574	Pathogenic	Bardet-Biedl syndrome 4 Bardet-Biedl syndrome	Criteria Provided Single Submitter	CA254669	rs_121434632	3 SubmittersRCV000009716 RCV001002881
NM_033028.5(BBS4):c.157-2A>G	SNV Germline	Chr15:72712242	Pathogenic	Bardet-Biedl syndrome 4 Bardet-Biedl syndrome	Criteria Provided Multiple Submitters No Conflicts	CA254671	rs_113994192	6 SubmittersRCV000009718 RCV000020932
NM_033028.5(BBS4):c.1091C>A (p.Ala364Glu)	SNV Germline	Chr15:72735167	Likely pathogenic	Bardet-Biedl syndrome 4 Bardet-Biedl syndrome 1	Criteria Provided Single Submitter	CA254672	rs_28938468	3 SubmittersRCV000009719 RCV003228893
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 Inborn genetic diseases BBS1-related disorder Severe early-childhood-onset retinal dystrophy Retinal disorder	Criteria Provided Multiple Submitters No Conflicts	CA223760	rs_113624356	58 SubmittersRCV000012926 RCV000082202 RCV000174408 RCV000210319 RCV000504693 RCV000787785 RCV002251900 RCV002513000 RCV003390672 RCV005621849 RCV006272250
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	9 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 Retinal dystrophy Bardet-Biedl syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA256230	rs_121917778	10 SubmittersRCV000012930 RCV001075155 RCV001055313 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_033028.5(BBS4):c.220+1G>C	SNV Germline	Chr15:72712308	Pathogenic	Bardet-Biedl syndrome	Criteria Provided Single Submitter	CA342422	rs_113994190	2 SubmittersRCV000020933
NM_033028.5(BBS4):c.406-2A>C	SNV Germline	Chr15:72722792	Pathogenic	Bardet-Biedl syndrome Bardet-Biedl syndrome 4	Criteria Provided Single Submitter	CA342423	rs_113994191	2 SubmittersRCV000020934 RCV005222697
NM_033028.5(BBS4):c.20C>T (p.Ala7Val)	SNV Germline	Chr15:72686247	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome BBS4-related disorder	No Assertion Criteria Provided	CA342432	rs_113994186	2 SubmittersRCV000020942 RCV004748537
NM_170784.3(MKKS):c.724G>T (p.Ala242Ser)	SNV Germline	Chr20:10412791	Conflicting classifications of pathogenicity	not specified Condition: not provided Bardet-Biedl syndrome McKusick-Kaufman syndrome McKusick-Kaufman syndrome Early onset severe obesity	Criteria Provided Conflicting Classifications	CA090940	rs_74315394	15 SubmittersRCV000153503 RCV000436285 RCV001084541 RCV000990285 RCV006629086
NM_031885.5(BBS2):c.472-2A>G	SNV Germline	Chr16:56510923	Pathogenic	Bardet-Biedl syndrome 2 Bardet-Biedl syndrome BBS2-related disorder	Criteria Provided Single Submitter	CA259829	rs_137854887	3 SubmittersRCV000023507 RCV001852022 RCV004532399
NM_024685.4(BBS10):c.273C>G (p.Cys91Trp)	SNV Germline	Chr12:76347712	Pathogenic	Bardet-Biedl syndrome 10 Bardet-Biedl syndrome Condition: not provided Bardet-Biedl syndrome 1 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA259914	rs_148374859	14 SubmittersRCV000023803 RCV000225785 RCV000732709 RCV003228900 RCV004814923
NM_177965.4(CFAP418):c.529C>T (p.Arg177Trp)	SNV Germline	Chr8:95247712	Pathogenic/Likely pathogenic	Cone-rod dystrophy 16 Bardet-biedl syndrome 21 Retinitis pigmentosa Autosomal recessive retinitis pigmentosa Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA260013	rs_387907136	6 SubmittersRCV000024193 RCV000477682 RCV001002908 RCV001257837 RCV002228055 RCV004794345
NM_024685.4(BBS10):c.1736A>G (p.Lys579Arg)	SNV Germline	Chr12:76346249	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome not specified Bardet-Biedl syndrome 10 Condition: not provided	Criteria Provided Conflicting Classifications	CA260178	rs_141521925	8 SubmittersRCV000029402 RCV000246690 RCV000675134 RCV001753428
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	10 SubmittersRCV001074387 RCV001228905 RCV001725934 RCV001835636
NM_031885.5(BBS2):c.1015C>T (p.Arg339Ter)	SNV Germline	Chr16:56502382	Pathogenic	Bardet-Biedl syndrome Bardet-Biedl syndrome 2 Retinitis pigmentosa 74 Retinitis pigmentosa 74 Bardet-Biedl syndrome 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA260182	rs_193922710	9 SubmittersRCV000029406 RCV000672755 RCV004798748 RCV005016297 RCV004719664
NM_017777.4(MKS1):c.472C>T (p.Arg158Ter)	SNV Germline	Chr17:58214784	Pathogenic	Meckel syndrome, type 1 Condition: not provided Meckel-Gruber syndrome Joubert syndrome Bardet-Biedl syndrome 13 MKS1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA344757	rs_386834050	6 SubmittersRCV000050036 RCV000760436 RCV001382376 RCV003474635 RCV004732640
NM_017777.4(MKS1):c.515+1G>A	SNV Germline	Chr17:58214740	Pathogenic/Likely pathogenic	Meckel syndrome, type 1 Joubert syndrome 28 Meckel syndrome, type 1 Bardet-Biedl syndrome 13 Meckel-Gruber syndrome Joubert syndrome Bardet-Biedl syndrome 13 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA344762	rs_201933838	9 SubmittersRCV000050037 RCV000671081 RCV001220121 RCV003474636 RCV004696672
NM_017777.4(MKS1):c.958G>A (p.Val320Ile)	SNV Germline	Chr17:58210980	Conflicting classifications of pathogenicity	Meckel syndrome, type 1 Meckel syndrome, type 1 Leber congenital amaurosis 6 Condition: not provided Meckel-Gruber syndrome Joubert syndrome Bardet-Biedl syndrome 13 Joubert syndrome 28 Meckel syndrome, type 1 Bardet-Biedl syndrome 13	Criteria Provided Conflicting Classifications	CA344764	rs_386834053	8 SubmittersRCV000050040 RCV000735871 RCV000735097 RCV001853066 RCV003474638 RCV005025107
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter)	SNV Germline	Chr12:88114488	Pathogenic	Meckel syndrome, type 4 Joubert syndrome 5 Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Retinitis pigmentosa Leber congenital amaurosis Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Condition: not provided CEP290-related disorder Senior-Loken syndrome 1 Autosomal recessive CEP290-related disorders CEP290-related ciliopathy	Reviewed By Expert Panel	CA144389	rs_386834152	14 SubmittersRCV000050146 RCV000201755 RCV000685655 RCV000787812 RCV000787559 RCV001376367 RCV002504949 RCV003460645 RCV002285263 RCV004732641 RCV005644503 RCV006695538 RCV006731775
NM_025114.4(CEP290):c.289G>T (p.Glu97Ter)	SNV Germline	Chr12:88139153	Pathogenic/Likely pathogenic	Meckel syndrome, type 4 Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Condition: not provided Leber congenital amaurosis Bardet-Biedl syndrome 14 Joubert syndrome 5 Retinal dystrophy CEP290-related ciliopathy	Criteria Provided Multiple Submitters No Conflicts	CA144391	rs_386834153	11 SubmittersRCV000050147 RCV001053674 RCV001091341 RCV001274137 RCV003466923 RCV004760362 RCV004814991 RCV005632219
NM_024685.4(BBS10):c.1202G>A (p.Gly401Glu)	SNV Germline	Chr12:76346783	Likely pathogenic	Bardet-Biedl syndrome 10 Bardet-Biedl syndrome	Criteria Provided Multiple Submitters No Conflicts	CA265990	rs_199474722	2 SubmittersRCV000058867 RCV003221799
NM_001278293.3(ARL6):c.272T>C (p.Ile91Thr)	SNV Germline	Chr3:97784972	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome Bardet-Biedl syndrome 3 Retinitis pigmentosa 55 Bardet-Biedl syndrome 3 Bardet-Biedl syndrome 3 Bardet-Biedl syndrome 1 Retinitis pigmentosa 55 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA280042	rs_137854907	6 SubmittersRCV000058868 RCV003764740 RCV005234962 RCV005025110 RCV005632222
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_152384.3(BBS5):c.413G>A (p.Arg138His)	SNV Germline	Chr2:169492900	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome Bardet-Biedl syndrome 5	Criteria Provided Multiple Submitters No Conflicts	CA265994	rs_179363897	5 SubmittersRCV000058870 RCV005025111
NM_033028.5(BBS4):c.63C>T (p.Pro21=)	SNV Germline	Chr15:72695215	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Bardet-Biedl syndrome 4	Criteria Provided Conflicting Classifications	CA7646459	rs_267604309	2 SubmittersRCV000866356 RCV001120609
NM_012210.4(TRIM32):c.1458C>T (p.Thr486=)	SNV Germline	Chr9:116699200	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome 11 Bardet-Biedl syndrome Sarcotubular myopathy TRIM32-related disorder	Criteria Provided Conflicting Classifications	CA223032	rs_141965401	4 SubmittersRCV000081523 RCV001168408 RCV001414311 RCV001168407 RCV003935058
NM_012210.4(TRIM32):c.276C>T (p.Ser92=)	SNV Germline	Chr9:116698018	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome Bardet-Biedl syndrome 11 Sarcotubular myopathy TRIM32-related disorder	Criteria Provided Conflicting Classifications	CA223035	rs_140589523	9 SubmittersRCV000081524 RCV001084684 RCV001166605 RCV001166606 RCV003915080
NM_012210.4(TRIM32):c.501G>A (p.Lys167=)	SNV Germline	Chr9:116698243	Conflicting classifications of pathogenicity	not specified Condition: not provided Bardet-Biedl syndrome TRIM32-related disorder	Criteria Provided Conflicting Classifications	CA223038	rs_200085883	4 SubmittersRCV000081525 RCV000723768 RCV001088482 RCV003952517
NM_012210.4(TRIM32):c.678C>T (p.Tyr226=)	SNV Germline	Chr9:116698420	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA223041	rs_398124253	2 SubmittersRCV000081526 RCV001079052
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	11 SubmittersRCV000082205 RCV000861255 RCV001104146 RCV001573960 RCV002513848
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His)	SNV Germline	Chr12:88086456	Conflicting classifications of pathogenicity	not specified Leber congenital amaurosis 10 Joubert syndrome 5 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Condition: not provided Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Leber congenital amaurosis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA149314	rs_183655276	11 SubmittersRCV000082249 RCV000307654 RCV000351974 RCV000366483 RCV000408211 RCV000402012 RCV000442189 RCV001082252 RCV001273070 RCV004528298
NM_152384.3(BBS5):c.584A>G (p.Asp195Gly)	SNV Germline	Chr2:169493802	Conflicting classifications of pathogenicity	not specified Condition: not provided Bardet-Biedl syndrome Sarcoma Malignant tumor of esophagus Nonpapillary renal cell carcinoma Cervical cancer	Criteria Provided Conflicting Classifications	CA224184	rs_143191074	7 SubmittersRCV000249419 RCV000766388 RCV001081706 RCV005887676 RCV005887673 RCV005887674 RCV005887675
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_198428.3(BBS9):c.771A>G (p.Ala257=)	SNV Germline	Chr7:33273080	Conflicting classifications of pathogenicity	not specified Condition: not provided Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA224384	rs_145007686	3 SubmittersRCV000242657 RCV000723712 RCV001459891
NM_015662.3(IFT172):c.5179T>C (p.Cys1727Arg)	SNV Germline	Chr2:27444503	Pathogenic	Short-rib thoracic dysplasia 10 with or without polydactyly Retinitis pigmentosa 71 Short-rib thoracic dysplasia 10 with or without polydactyly Retinitis pigmentosa Retinitis pigmentosa 71 Bardet-Biedl syndrome 20 Short-rib thoracic dysplasia 10 with or without polydactyly IFT172-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA149722	rs_149614625	6 SubmittersRCV000083268 RCV001228000 RCV001723662 RCV002483157 RCV004737195
NM_015662.3(IFT172):c.4630C>T (p.Arg1544Cys)	SNV Germline	Chr2:27447544	Pathogenic/Likely pathogenic	Short-rib thoracic dysplasia 10 with or without polydactyly Joubert syndrome Short-rib thoracic dysplasia 10 with or without polydactyly Retinitis pigmentosa 71 Bardet-Biedl syndrome 20 Condition: not provided Short-rib thoracic dysplasia 10 with or without polydactyly Retinitis pigmentosa 71	Criteria Provided Multiple Submitters No Conflicts	CA149724	rs_587777079	5 SubmittersRCV000083270 RCV000201713 RCV002483158 RCV003225027 RCV005213205
NM_015662.3(IFT172):c.886C>T (p.Arg296Trp)	SNV Germline	Chr2:27480049	Conflicting classifications of pathogenicity	Short-rib thoracic dysplasia 10 without polydactyly Short-rib thoracic dysplasia 10 with or without polydactyly Retinitis pigmentosa 71 Inborn genetic diseases Short-rib thoracic dysplasia 10 with or without polydactyly Bardet-Biedl syndrome 20 Retinitis pigmentosa 71 Condition: not provided IFT172-related disorder	Criteria Provided Conflicting Classifications	CA149729	rs_145541911	6 SubmittersRCV000083274 RCV001303423 RCV003278664 RCV002490732 RCV003153361 RCV004549522
NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter)	SNV Germline	Chr12:88089247	Pathogenic	Condition: not provided Joubert syndrome 5 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Leber congenital amaurosis Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 CEP290-related ciliopathy	Reviewed By Expert Panel	CA227967	rs_62640581	10 SubmittersRCV000086289 RCV001199210 RCV001216498 RCV001831897 RCV002498466 RCV003467011 RCV006731784
NM_025114.4(CEP290):c.4771C>T (p.Gln1591Ter)	SNV Germline	Chr12:88083888	Pathogenic	Condition: not provided Leber congenital amaurosis Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Bardet-Biedl syndrome 14 CEP290-related disorder Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5	Criteria Provided Multiple Submitters No Conflicts	CA227973	rs_62640574	6 SubmittersRCV000086293 RCV001002936 RCV001385691 RCV003467013 RCV004542803 RCV005008008
NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter)	SNV Germline	Chr12:88083077	Pathogenic/Likely pathogenic	Condition: not provided CEP290-related disorder Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Senior-Loken syndrome 6 Retinitis pigmentosa Leber congenital amaurosis Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5	Criteria Provided Multiple Submitters No Conflicts	CA227975	rs_62638179	11 SubmittersRCV000086294 RCV000263885 RCV000637002 RCV001335142 RCV001723671 RCV001276492 RCV002227445 RCV003467014 RCV005008009 RCV006645455
NM_012210.4(TRIM32):c.1222C>T (p.Arg408Cys)	SNV Germline	Chr9:116698964	Conflicting classifications of pathogenicity	Condition: not provided not specified Bardet-Biedl syndrome 11 Bardet-Biedl syndrome Sarcotubular myopathy	Criteria Provided Conflicting Classifications	CA228919	rs_3747835	14 SubmittersRCV000086966 RCV000244938 RCV000626297 RCV001084393 RCV001166672
NM_170784.3(MKKS):c.1015A>G (p.Ile339Val)	SNV Germline	Chr20:10408774	Conflicting classifications of pathogenicity	Condition: not provided not specified McKusick-Kaufman syndrome Bardet-Biedl syndrome 6 Bardet-Biedl syndrome McKusick-Kaufman syndrome	Criteria Provided Conflicting Classifications	CA200249	rs_137853909	16 SubmittersRCV000086969 RCV000173033 RCV000585746 RCV000677321 RCV001083442
NM_152384.3(BBS5):c.551A>G (p.Asn184Ser)	SNV Germline	Chr2:169493769	Conflicting classifications of pathogenicity	Condition: not provided not specified Cone dystrophy Bardet-Biedl syndrome Retinal dystrophy Uterine corpus endometrial carcinoma Colorectal cancer Familial cancer of breast Colon adenocarcinoma Sarcoma Lung cancer Intellectual disability Gastric cancer Thyroid cancer, nonmedullary, 1 Melanoma Cholangiocarcinoma	Criteria Provided Conflicting Classifications	CA179794	rs_137853921	14 SubmittersRCV000087001 RCV000152843 RCV000504860 RCV001257073 RCV004815182 RCV005887784 RCV005887777 RCV005887775 RCV005887776 RCV005887778 RCV005887783 RCV005625287 RCV005887779 RCV005887780 RCV005887781 RCV005887782
NM_144596.4(TTC8):c.625-5C>T	SNV Germline	Chr14:88852966	Conflicting classifications of pathogenicity	Condition: not provided not specified Retinitis pigmentosa Bardet-Biedl syndrome Bardet-Biedl syndrome 8	Criteria Provided Conflicting Classifications	CA331786	rs_137853922	10 SubmittersRCV000087004 RCV000253567 RCV000787922 RCV001079560 RCV001121196
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln)	SNV Germline	Chr12:88079219	Conflicting classifications of pathogenicity	not specified Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Condition: not provided Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis Kidney disorder Retinal dystrophy	Criteria Provided Conflicting Classifications	CA150915	rs_61941020	19 SubmittersRCV000114201 RCV000292636 RCV000336982 RCV000352237 RCV000399104 RCV000407985 RCV000436165 RCV001084256 RCV001826782 RCV002294031 RCV003888506
NM_001195305.3(BBIP1):c.173T>G (p.Leu58Ter)	SNV Germline	Chr10:110900466	Pathogenic	Bardet-Biedl syndrome 1 Bardet-Biedl syndrome 18	No Assertion Criteria Provided	CA151209	rs_515726134	2 SubmittersRCV000114318 RCV000114434
NM_020347.4(LZTFL1):c.260T>C (p.Leu87Pro)	SNV Germline	Chr3:45835653	Pathogenic	Bardet-Biedl syndrome 1 Bardet-Biedl syndrome 17	No Assertion Criteria Provided	CA170605	rs_515726135	2 SubmittersRCV000114319 RCV000133552
NM_020347.4(LZTFL1):c.778G>T (p.Glu260Ter)	SNV Germline	Chr3:45827459	Pathogenic	Bardet-Biedl syndrome 1 Bardet-Biedl syndrome 17	No Assertion Criteria Provided	CA170607	rs_515726136	2 SubmittersRCV000114320 RCV000133553
NM_025114.4(CEP290):c.3465G>A (p.Leu1155=)	SNV Germline	Chr12:88090836	Conflicting classifications of pathogenicity	not specified Joubert syndrome 5 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Leber congenital amaurosis Condition: not provided Kidney disorder	Criteria Provided Conflicting Classifications	CA290039	rs_150138016	8 SubmittersRCV000124246 RCV000293222 RCV000279934 RCV000337209 RCV000375509 RCV000372128 RCV000459124 RCV001271579 RCV001812001 RCV002294037
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=)	SNV Germline	Chr12:88080209	Conflicting classifications of pathogenicity	not specified Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Leber congenital amaurosis Condition: not provided Kidney disorder	Criteria Provided Conflicting Classifications	CA290041	rs_79644671	9 SubmittersRCV000124248 RCV000259368 RCV000267777 RCV000319253 RCV000354431 RCV000322977 RCV000472139 RCV001276489 RCV001812002 RCV002294038
NM_001177701.3(IFT27):c.299G>A (p.Cys100Tyr)	SNV Germline	Chr22:36763972	Pathogenic	Bardet-Biedl syndrome 19 IFT27-related disorder	Criteria Provided Single Submitter	CA163415	rs_587777546	3 SubmittersRCV000128641 RCV004754306
NM_016247.4(IMPG2):c.3262C>T (p.Arg1088Ter)	SNV Germline	Chr3:101231117	Pathogenic/Likely pathogenic	Retinitis pigmentosa Condition: not provided Retinal dystrophy Autosomal recessive retinitis pigmentosa Vitelliform macular dystrophy 5 Bardet-Biedl syndrome	Criteria Provided Multiple Submitters No Conflicts	CA270121	rs_199867882	14 SubmittersRCV000132676 RCV000585301 RCV001074065 RCV001257827 RCV001270127 RCV005625313
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly)	SNV Germline	Chr12:88058879	Conflicting classifications of pathogenicity	Condition: not provided not specified Leber congenital amaurosis 10 Joubert syndrome 1 Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Meckel syndrome, type 4 Joubert syndrome 5 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis Retinal dystrophy Malignant tumor of esophagus Hepatocellular carcinoma	Criteria Provided Conflicting Classifications	CA207418	rs_77778467	13 SubmittersRCV000132681 RCV000193732 RCV000490488 RCV000988879 RCV001083794 RCV001110731 RCV001110732 RCV001109949 RCV001109950 RCV001272010 RCV003888568 RCV005886947 RCV005886946
NM_033028.5(BBS4):c.1414A>G (p.Met472Val)	SNV Germline	Chr15:72736927	Conflicting classifications of pathogenicity	Condition: not provided not specified Bardet-Biedl syndrome 4 Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA232857	rs_2277596	8 SubmittersRCV000132689 RCV000246726 RCV000490439 RCV001085941
NM_025114.4(CEP290):c.1711+1G>A	SNV Germline	Chr12:88118482	Pathogenic/Likely pathogenic	Leber congenital amaurosis 10 Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 CEP290-related disorder Bardet-Biedl syndrome 14 Retinal dystrophy Meckel syndrome, type 3 Meckel syndrome, type 4 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA345951	rs_587783009	9 SubmittersRCV000144459 RCV001384909 RCV002492522 RCV003387770 RCV003467201 RCV003888575 RCV006454658 RCV005867926 RCV006638876
NM_025114.4(CEP290):c.3904C>T (p.Gln1302Ter)	SNV Germline	Chr12:88089157	Pathogenic	Leber congenital amaurosis 10 Joubert syndrome 5 Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Leber congenital amaurosis Bardet-Biedl syndrome 14 CEP290-related ciliopathy	Reviewed By Expert Panel	CA277711	rs_587783016	6 SubmittersRCV000144467 RCV000201586 RCV001385693 RCV001831927 RCV003467203 RCV006731803
NM_015910.7(WDPCP):c.160G>A (p.Asp54Asn)	SNV Germline	Chr2:63492856	Conflicting classifications of pathogenicity	Heart defect - tongue hamartoma - polysyndactyly syndrome Orofaciodigital syndrome Bardet-Biedl syndrome WDPCP-related disorder Heart defect - tongue hamartoma - polysyndactyly syndrome Bardet-Biedl syndrome 15 Melanoma Retinal disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA175137	rs_200322968	12 SubmittersRCV000150109 RCV000851198 RCV001325297 RCV003422040 RCV005031656 RCV005888303 RCV006649923 RCV006649922
NM_006642.5(SDCCAG8):c.1409A>G (p.Glu470Gly)	SNV Germline	Chr1:243344267	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 SDCCAG8-related disorder	Criteria Provided Conflicting Classifications	CA234901	rs_118064970	4 SubmittersRCV000153922 RCV001086622 RCV001099560 RCV001099561 RCV004532738
NM_025114.4(CEP290):c.4250A>G (p.Gln1417Arg)	SNV Germline	Chr12:88086443	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Leber congenital amaurosis Inborn genetic diseases CEP290-related disorder	Criteria Provided Conflicting Classifications	CA233675	rs_201504946	8 SubmittersRCV000152977 RCV000281671 RCV000313475 RCV000348281 RCV000373904 RCV000390170 RCV000763864 RCV001245512 RCV001279535 RCV002516071 RCV004528881
NM_025114.4(CEP290):c.226G>A (p.Ala76Thr)	SNV Germline	Chr12:88139519	Conflicting classifications of pathogenicity	Condition: not provided Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Joubert syndrome 5 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Leber congenital amaurosis 10 Senior-Loken syndrome 6 not specified Inborn genetic diseases CEP290-related disorder	Criteria Provided Conflicting Classifications	CA233682	rs_373913704	9 SubmittersRCV000723892 RCV001079764 RCV001110739 RCV001110738 RCV001110740 RCV001109956 RCV001110741 RCV001818343 RCV003298162 RCV004528882
NM_033028.5(BBS4):c.1049A>G (p.Asn350Ser)	SNV Germline	Chr15:72735125	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome BBS4-related disorder	Criteria Provided Conflicting Classifications	CA233519	rs_150395094	3 SubmittersRCV000152841 RCV001085932 RCV003917487
NM_176824.3(BBS7):c.728G>A (p.Cys243Tyr)	SNV Germline	Chr4:121853077	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome Bardet-Biedl syndrome 7	Criteria Provided Conflicting Classifications	CA233521	rs_727503821	8 SubmittersRCV000152845 RCV001384254 RCV002250576
NM_024685.4(BBS10):c.1616C>T (p.Pro539Leu)	SNV Germline	Chr12:76346369	Conflicting classifications of pathogenicity	not specified Bardet-Biedl syndrome Bardet-Biedl syndrome 10 Condition: not provided Early onset severe obesity	Criteria Provided Conflicting Classifications	CA179768	rs_35676114	15 SubmittersRCV000152825 RCV000270164 RCV000576464 RCV001706010 RCV006629085
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)	SNV Germline	Chr12:88125356	Conflicting classifications of pathogenicity	not specified Condition: not provided Joubert syndrome 1 Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Leber congenital amaurosis 10 Joubert syndrome 5 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis Atypical hemolytic-uremic syndrome Retinal dystrophy	Criteria Provided Conflicting Classifications	CA179860	rs_188164241	16 SubmittersRCV000152980 RCV000658663 RCV000988890 RCV001084283 RCV001110571 RCV001110570 RCV001110567 RCV001110568 RCV001110569 RCV001275040 RCV002294046 RCV004815226
NM_153240.5(NPHP3):c.3550G>A (p.Ala1184Thr)	SNV Germline	Chr3:132684574	Conflicting classifications of pathogenicity	not specified Condition: not provided Nephronophthisis Renal-hepatic-pancreatic dysplasia 1 NPHP3-related Meckel-like syndrome Nephronophthisis 3 Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA180240	rs_34391943	9 SubmittersRCV000153592 RCV000224286 RCV000226496 RCV000280342 RCV000404782 RCV001094788 RCV003224174
NM_198428.3(BBS9):c.1993C>T (p.Leu665Phe)	SNV Germline	Chr7:33388022	Conflicting classifications of pathogenicity	not specified Bardet-Biedl syndrome Bardet-Biedl syndrome 9	Criteria Provided Conflicting Classifications	CA179797	rs_116262072	6 SubmittersRCV000152847 RCV000463844 RCV002467603
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr)	SNV Germline	Chr12:88060951	Conflicting classifications of pathogenicity	not specified Condition: not provided Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis Intellectual disability	Criteria Provided Conflicting Classifications	CA179856	rs_117852025	14 SubmittersRCV000152970 RCV000224947 RCV001082043 RCV001114081 RCV001114080 RCV001114077 RCV001114078 RCV001114079 RCV001272012 RCV001252445
NM_176824.3(BBS7):c.280A>T (p.Thr94Ser)	SNV Germline	Chr4:121861565	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome Bardet-Biedl syndrome 7	Criteria Provided Conflicting Classifications	CA233523	rs_202102193	3 SubmittersRCV000152846 RCV000283074 RCV001094847
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_025114.4(CEP290):c.5055G>A (p.Ala1685=)	SNV Germline	Chr12:88080353	Conflicting classifications of pathogenicity	Condition: not provided Senior-Loken syndrome 6 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Joubert syndrome 5 Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Retinal dystrophy	Criteria Provided Conflicting Classifications	CA233673	rs_73192874	4 SubmittersRCV000152976 RCV000291841 RCV000346891 RCV000344957 RCV000399776 RCV000400108 RCV001085341 RCV003888583
NM_006642.5(SDCCAG8):c.267T>C (p.Ser89=)	SNV Germline	Chr1:243271024	Conflicting classifications of pathogenicity	not specified Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 Condition: not provided Senior-Loken syndrome 7 Bardet-Biedl syndrome 16	Criteria Provided Conflicting Classifications	CA234899	rs_148818431	4 SubmittersRCV000153921 RCV000275041 RCV000330149 RCV000723734 RCV001085093
NM_017777.4(MKS1):c.1601G>A (p.Arg534Gln)	SNV Germline	Chr17:58206158	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 13 Condition: not provided Meckel-Gruber syndrome Joubert syndrome Meckel syndrome, type 1 Microcephaly not specified Bardet-Biedl syndrome 13 Meckel syndrome, type 1 Joubert syndrome 28 MKS1-related disorder	Criteria Provided Conflicting Classifications	CA273756	rs_199910690	9 SubmittersRCV000161135 RCV000324288 RCV001082780 RCV001272920 RCV001252740 RCV001797645 RCV002467638 RCV004724951
NM_015910.7(WDPCP):c.1315G>A (p.Val439Ile)	SNV Germline	Chr2:63404168	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Bardet-Biedl syndrome 15 WDPCP-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA334733	rs_199676595	4 SubmittersRCV000168404 RCV001142953 RCV003937520 RCV005243143
NM_017777.4(MKS1):c.233T>G (p.Ile78Ser)	SNV Germline	Chr17:58216694	Conflicting classifications of pathogenicity	Meckel-Gruber syndrome Joubert syndrome Bardet-Biedl syndrome 13 Meckel syndrome, type 1 Joubert syndrome 28 MKS1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA334638	rs_786204222	4 SubmittersRCV000168353 RCV000665745 RCV006261953 RCV006731817
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter)	SNV Germline	Chr11:66515543	Pathogenic	Bardet-Biedl syndrome Condition: not provided Bardet-Biedl syndrome 1 BBS1-related disorder Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA273912	rs_786204444	10 SubmittersRCV000169066 RCV000627244 RCV001272374 RCV003398862 RCV004815258
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter)	SNV Germline	Chr11:66526753	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome Bardet-Biedl syndrome 1 Condition: not provided BBS1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA274213	rs_768443448	14 SubmittersRCV000169362 RCV000984149 RCV001092071 RCV004742303
NM_024685.4(BBS10):c.1241T>C (p.Leu414Ser)	SNV Germline	Chr12:76346744	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 10 Bardet-Biedl syndrome BBS10-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274166	rs_786204575	7 SubmittersRCV000169317 RCV001244659 RCV003390883 RCV004589828
NM_031885.5(BBS2):c.508G>A (p.Asp170Asn)	SNV Germline	Chr16:56510885	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome 2	Criteria Provided Conflicting Classifications	CA235951	rs_786205498	2 SubmittersRCV000171247 RCV001329456
NM_017777.4(MKS1):c.417+1G>A	SNV Germline	Chr17:58216087	Pathogenic/Likely pathogenic	Condition: not provided Meckel-Gruber syndrome Joubert syndrome Meckel syndrome, type 1 Bardet-Biedl syndrome 13	Criteria Provided Multiple Submitters No Conflicts	CA235986	rs_756368560	4 SubmittersRCV000171264 RCV001063303 RCV001826869 RCV003474920
NM_001278293.3(ARL6):c.362G>A (p.Arg121His)	SNV Germline	Chr3:97788002	Likely pathogenic	Condition: not provided Autosomal recessive retinitis pigmentosa Bardet-Biedl syndrome 3 Retinitis pigmentosa 55 Bardet-Biedl syndrome Retinitis pigmentosa 55 Bardet-Biedl syndrome 3 Bardet-Biedl syndrome 1 Retinitis pigmentosa 55	Criteria Provided Multiple Submitters No Conflicts	CA280069	rs_765715798	7 SubmittersRCV000171364 RCV001257839 RCV001852067 RCV002469042 RCV005623069 RCV005003523
NM_198428.3(BBS9):c.263C>A (p.Ser88Ter)	SNV Germline	Chr7:33152851	Pathogenic	Condition: not provided Bardet-Biedl syndrome	Criteria Provided Single Submitter	CA236280	rs_749974697	2 SubmittersRCV000171406 RCV000256468
NM_152384.3(BBS5):c.532G>A (p.Gly178Arg)	SNV Germline	Chr2:169493750	Likely pathogenic	Condition: not provided Bardet-Biedl syndrome Bardet-Biedl syndrome 5	Criteria Provided Single Submitter	CA236417	rs_786205636	1 SubmittersRCV000171498 RCV000256439 RCV003984827
NM_015662.3(IFT172):c.4701C>A (p.His1567Gln)	SNV Germline	Chr2:27446314	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 20 Retinitis pigmentosa 71 Short-rib thoracic dysplasia 10 with or without polydactyly IFT172-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA199770	rs_786205855	3 SubmittersRCV002508142 RCV003765075 RCV005867991
NM_015662.3(IFT172):c.1525-1G>A	SNV Germline	Chr2:27471096	Pathogenic/Likely pathogenic	Short-rib thoracic dysplasia 10 with or without polydactyly Retinitis pigmentosa 71 Bardet-Biedl syndrome 20 Short-rib thoracic dysplasia 10 with or without polydactyly Retinitis pigmentosa 71 Bardet-Biedl syndrome 20 IFT172-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA199772	rs_370540673	5 SubmittersRCV002492710 RCV002515241 RCV004562395 RCV004737264 RCV005600800
NM_015910.7(WDPCP):c.13T>C (p.Phe5Leu)	SNV Germline	Chr2:63588259	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome Inborn genetic diseases WDPCP-related disorder Heart defect - tongue hamartoma - polysyndactyly syndrome Bardet-Biedl syndrome 15	Criteria Provided Conflicting Classifications	CA238905	rs_768802269	5 SubmittersRCV000173453 RCV001247524 RCV002516587 RCV003407639 RCV005031702
NM_024649.5(BBS1):c.24T>C (p.Asp8=)	SNV Germline	Chr11:66510683	Conflicting classifications of pathogenicity	not specified Bardet-Biedl syndrome Bardet-Biedl syndrome 1 Condition: not provided BBS1-related disorder	Criteria Provided Conflicting Classifications	CA200595	rs_55848325	14 SubmittersRCV000173529 RCV000226235 RCV000709651 RCV003407641 RCV003891704
NM_033028.5(BBS4):c.24+8C>T	SNV Germline	Chr15:72686259	Conflicting classifications of pathogenicity	not specified Bardet-Biedl syndrome Bardet-Biedl syndrome 4	Criteria Provided Conflicting Classifications	CA238993	rs_200055760	6 SubmittersRCV000173543 RCV000336731 RCV001094445
NM_176824.3(BBS7):c.1037G>A (p.Arg346Gln)	SNV Germline	Chr4:121847404	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome Bardet-Biedl syndrome 7 not specified BBS7-related disorder	Criteria Provided Conflicting Classifications	CA239398	rs_370716101	5 SubmittersRCV000173926 RCV003221833 RCV003462274 RCV005417989 RCV004742307
NM_006642.5(SDCCAG8):c.1380G>C (p.Gln460His)	SNV Germline	Chr1:243344238	Conflicting classifications of pathogenicity	Condition: not provided Senior-Loken syndrome 7 Bardet-Biedl syndrome 16 SDCCAG8-related disorder	Criteria Provided Conflicting Classifications	CA239877	rs_79762798	3 SubmittersRCV000174354 RCV001085070 RCV004539611
NM_017777.4(MKS1):c.1025-2A>C	SNV Germline	Chr17:58208585	Pathogenic/Likely pathogenic	Condition: not provided Joubert syndrome 28 Bardet-Biedl syndrome 13 Meckel syndrome, type 1 Bardet-Biedl syndrome 13 MKS1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA346858	rs_794727070	4 SubmittersRCV000174384 RCV000671535 RCV003474925 RCV004537366
NM_031885.5(BBS2):c.1422G>A (p.Ser474=)	SNV Germline	Chr16:56499883	Conflicting classifications of pathogenicity	not specified Bardet-Biedl syndrome Bardet-Biedl syndrome 1 Bardet-Biedl syndrome 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA200970	rs_117033008	12 SubmittersRCV000174411 RCV000279525 RCV000709677 RCV001094291 RCV003884375
NM_198428.3(BBS9):c.1280C>T (p.Ala427Val)	SNV Germline	Chr7:33344585	Conflicting classifications of pathogenicity	not specified Bardet-Biedl syndrome Condition: not provided Bardet-Biedl syndrome 9 Melanoma Malignant tumor of esophagus Clear cell carcinoma of kidney Gastric cancer Thyroid cancer, nonmedullary, 1 Hepatocellular carcinoma	Criteria Provided Conflicting Classifications	CA200975	rs_138072724	9 SubmittersRCV000174426 RCV000204910 RCV000515021 RCV001095289 RCV005889748 RCV005889744 RCV005889745 RCV005889746 RCV005889747 RCV005889743
NM_025114.4(CEP290):c.1522+6C>T	SNV Germline	Chr12:88120108	Conflicting classifications of pathogenicity	not specified Condition: not provided Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis 10 Joubert syndrome 5 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Meckel syndrome, type 4	Criteria Provided Conflicting Classifications	CA201235	rs_148446546	10 SubmittersRCV000174953 RCV000835406 RCV001084413 RCV001112003 RCV001112004 RCV001112005 RCV001112006 RCV001112002
NM_017777.4(MKS1):c.1506G>A (p.Ser502=)	SNV Germline	Chr17:58206365	Conflicting classifications of pathogenicity	Condition: not provided Meckel syndrome, type 1 Bardet-Biedl syndrome 13 Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Conflicting Classifications	CA240920	rs_368535131	3 SubmittersRCV000175214 RCV000280084 RCV000374576 RCV001087215
NM_198428.3(BBS9):c.2105C>A (p.Thr702Asn)	SNV Germline	Chr7:33388134	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome not specified BBS9-related disorder	Criteria Provided Conflicting Classifications	CA241249	rs_149362446	5 SubmittersRCV000175493 RCV001087341 RCV003150969 RCV003907570
NM_012210.4(TRIM32):c.633T>C (p.Ala211=)	SNV Germline	Chr9:116698375	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome TRIM32-related disorder	Criteria Provided Conflicting Classifications	CA241638	rs_753960738	3 SubmittersRCV000175845 RCV003522943 RCV003977434
NM_012210.4(TRIM32):c.1134C>T (p.Tyr378=)	SNV Germline	Chr9:116698876	Conflicting classifications of pathogenicity	not specified Condition: not provided Bardet-Biedl syndrome TRIM32-related disorder	Criteria Provided Conflicting Classifications	CA241641	rs_776448126	4 SubmittersRCV000175846 RCV000724487 RCV002054072 RCV003937586
NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys)	SNV Germline	Chr12:76346147	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome 10 Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA241802	rs_575957641	10 SubmittersRCV000175947 RCV000671818 RCV002516694
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_198428.3(BBS9):c.2363C>T (p.Ser788Phe)	SNV Germline	Chr7:33534018	Conflicting classifications of pathogenicity	not specified Condition: not provided Bardet-Biedl syndrome Bardet-Biedl syndrome 9	Criteria Provided Conflicting Classifications	CA242114	rs_61753526	7 SubmittersRCV000243461 RCV000723782 RCV001085388 RCV001165277
NM_015102.5(NPHP4):c.3454C>T (p.Pro1152Ser)	SNV Germline	Chr1:5867758	Conflicting classifications of pathogenicity	not specified Nephronophthisis Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA242462	rs_560329867	3 SubmittersRCV000176491 RCV000862808 RCV003224190
NM_017777.4(MKS1):c.213C>G (p.Asp71Glu)	SNV Germline	Chr17:58216714	Conflicting classifications of pathogenicity	not specified Bardet-Biedl syndrome 13 Meckel syndrome, type 1 Condition: not provided Meckel-Gruber syndrome Joubert syndrome MKS1-related disorder	Criteria Provided Conflicting Classifications	CA346867	rs_142813109	15 SubmittersRCV000177294 RCV000351197 RCV000399365 RCV000514445 RCV001079449 RCV004528943
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg)	SNV Germline	Chr15:72709760	Conflicting classifications of pathogenicity	not specified Condition: not provided Bardet-Biedl syndrome 1 Bardet-Biedl syndrome Bardet-Biedl syndrome 4	Criteria Provided Conflicting Classifications	CA202441	rs_75295839	12 SubmittersRCV000177393 RCV000425800 RCV000709674 RCV001085083 RCV001119683
NM_144596.4(TTC8):c.267C>A (p.Arg89=)	SNV Germline	Chr14:88840866	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome not specified Retinitis pigmentosa Bardet-Biedl syndrome 8 TTC8-related disorder	Criteria Provided Conflicting Classifications	CA243607	rs_200113889	6 SubmittersRCV000177429 RCV001078936 RCV001001279 RCV001117606 RCV001117607 RCV003907599
NM_144596.4(TTC8):c.284A>G (p.Lys95Arg)	SNV Germline	Chr14:88840883	Conflicting classifications of pathogenicity	not specified Bardet-Biedl syndrome Retinitis pigmentosa Bardet-Biedl syndrome 8 Condition: not provided	Criteria Provided Conflicting Classifications	CA202465	rs_150880478	10 SubmittersRCV000177430 RCV000559336 RCV001117608 RCV001119197 RCV001706134
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=)	SNV Germline	Chr12:88089407	Conflicting classifications of pathogenicity	not specified Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Bardet-Biedl syndrome 14 Joubert syndrome 5 Senior-Loken syndrome 6 Meckel syndrome, type 4 Leber congenital amaurosis 10 Condition: not provided Leber congenital amaurosis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA202523	rs_201838492	12 SubmittersRCV000177576 RCV000198308 RCV000300808 RCV000335768 RCV000348352 RCV000401126 RCV000400157 RCV001699223 RCV001826899 RCV004528944
NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter)	SNV Germline	Chr12:88080226	Pathogenic/Likely pathogenic	Condition: not provided Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Leber congenital amaurosis 10 Leber congenital amaurosis Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA275233	rs_370119681	11 SubmittersRCV000523279 RCV001036300 RCV001376454 RCV001826904 RCV002222427 RCV003468864 RCV005003531 RCV004816287
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=)	SNV Germline	Chr12:88079134	Conflicting classifications of pathogenicity	not specified Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Joubert syndrome 5 Senior-Loken syndrome 6 Condition: not provided Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Leber congenital amaurosis Inborn genetic diseases CEP290-related disorder	Criteria Provided Conflicting Classifications	CA202689	rs_117370446	15 SubmittersRCV000178010 RCV000265423 RCV000268862 RCV000328615 RCV000320490 RCV000364677 RCV000712032 RCV001082773 RCV001832019 RCV003352794 RCV004528947
NM_031885.5(BBS2):c.525A>G (p.Gly175=)	SNV Germline	Chr16:56510868	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome Bardet-Biedl syndrome 2	Criteria Provided Conflicting Classifications	CA245452	rs_34191306	3 SubmittersRCV000178373 RCV001083114 RCV001273915
NM_033028.5(BBS4):c.208A>G (p.Ile70Val)	SNV Germline	Chr15:72712295	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome Bardet-Biedl syndrome 4 BBS4-related disorder	Criteria Provided Conflicting Classifications	CA245459	rs_142692981	5 SubmittersRCV000178378 RCV001080709 RCV001120611 RCV003977463
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp)	SNV Germline	Chr12:88136741	Conflicting classifications of pathogenicity	Condition: not provided Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 not specified Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Retinal dystrophy CEP290-related disorder	Criteria Provided Conflicting Classifications	CA246815	rs_140236736	8 SubmittersRCV000179537 RCV001085617 RCV001112630 RCV001112631 RCV001112632 RCV001112633 RCV001112634 RCV003488430 RCV003227695 RCV003888636 RCV004539683
NM_025114.4(CEP290):c.341G>A (p.Arg114His)	SNV Germline	Chr12:88136743	Conflicting classifications of pathogenicity	not specified Condition: not provided Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Leber congenital amaurosis Joubert syndrome 5 CEP290-related disorder Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA246817	rs_150296134	13 SubmittersRCV000179538 RCV000724859 RCV001082749 RCV001275047 RCV001526756 RCV004537490 RCV005008108 RCV005305978
NM_006642.5(SDCCAG8):c.925G>A (p.Val309Ile)	SNV Germline	Chr1:243308173	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 SDCCAG8-related disorder	Criteria Provided Conflicting Classifications	CA247688	rs_149359674	3 SubmittersRCV000180303 RCV001078537 RCV004537508
NM_176824.3(BBS7):c.865G>A (p.Val289Ile)	SNV Germline	Chr4:121848913	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome Inborn genetic diseases BBS7-related disorder	Criteria Provided Conflicting Classifications	CA248271	rs_200770952	4 SubmittersRCV000180708 RCV002054156 RCV002517766 RCV003407670
NM_015662.3(IFT172):c.112C>T (p.Arg38Ter)	SNV Germline	Chr2:27485431	Pathogenic/Likely pathogenic	Short-rib thoracic dysplasia 10 with or without polydactyly Short-rib thoracic dysplasia 10 with or without polydactyly Retinitis pigmentosa 71 Condition: not provided IFT172-related disorder Bardet-Biedl syndrome 20 Short-rib thoracic dysplasia 10 with or without polydactyly Retinitis pigmentosa 71	Criteria Provided Multiple Submitters No Conflicts	CA204566	rs_139021548	6 SubmittersRCV000190597 RCV001387370 RCV003488445 RCV004737295 RCV005016550
NM_031885.5(BBS2):c.98C>A (p.Ala33Asp)	SNV Germline	Chr16:56519765	Conflicting classifications of pathogenicity	Retinitis pigmentosa 74 Bardet-Biedl syndrome 2 Bardet-Biedl syndrome Retinitis pigmentosa BBS2-related disorder	Criteria Provided Conflicting Classifications	CA204968	rs_797045155	7 SubmittersRCV000190987 RCV000675055 RCV001380380 RCV001002878 RCV004539761
NM_031885.5(BBS2):c.401C>G (p.Pro134Arg)	SNV Germline	Chr16:56511229	Pathogenic/Likely pathogenic	Retinitis pigmentosa 74 Bardet-Biedl syndrome 2 Bardet-Biedl syndrome Retinitis pigmentosa Retinal dystrophy BBS2-related ciliopathy Early onset severe obesity Retinitis pigmentosa 40	Criteria Provided Multiple Submitters No Conflicts	CA204970	rs_376306240	11 SubmittersRCV000190988 RCV000675071 RCV001049931 RCV001002875 RCV001074319 RCV006694774 RCV006629093 RCV006707628
NM_006642.5(SDCCAG8):c.221-2A>G	SNV Germline	Chr1:243270976	Pathogenic	Senior-Loken syndrome 7 Bardet-Biedl syndrome 16	Criteria Provided Multiple Submitters No Conflicts	CA209406	rs_797045946	2 SubmittersRCV000194923 RCV000760977
NM_006642.5(SDCCAG8):c.481C>T (p.Gln161Ter)	SNV Germline	Chr1:243286332	Pathogenic	Senior-Loken syndrome 7 Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 SDCCAG8-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA206745	rs_797045947	3 SubmittersRCV000193333 RCV001390072 RCV004530146
NM_006642.5(SDCCAG8):c.567G>A (p.Trp189Ter)	SNV Germline	Chr1:243293111	Pathogenic/Likely pathogenic	Senior-Loken syndrome 7 Bardet-Biedl syndrome Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 SDCCAG8-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA207867	rs_797045948	5 SubmittersRCV000194004 RCV001731515 RCV002517977 RCV004530147 RCV004767133
NM_006642.5(SDCCAG8):c.1501G>C (p.Asp501His)	SNV Germline	Chr1:243378748	Conflicting classifications of pathogenicity	not specified Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 Condition: not provided SDCCAG8-related disorder	Criteria Provided Conflicting Classifications	CA207762	rs_150646039	5 SubmittersRCV000193940 RCV000873932 RCV001558681 RCV004541252
NM_017777.4(MKS1):c.1436G>A (p.Arg479His)	SNV Germline	Chr17:58206519	Conflicting classifications of pathogenicity	not specified Condition: not provided Joubert syndrome Meckel-Gruber syndrome Meckel syndrome, type 1 Bardet-Biedl syndrome 13	Criteria Provided Conflicting Classifications	CA206807	rs_111315726	11 SubmittersRCV000193368 RCV000224657 RCV001082508 RCV001128313 RCV001128312
NM_017777.4(MKS1):c.844C>T (p.Arg282Ter)	SNV Germline	Chr17:58212996	Pathogenic/Likely pathogenic	Meckel syndrome, type 1 Bardet-Biedl syndrome 13 Meckel syndrome, type 1 Joubert syndrome 28 Bardet-Biedl syndrome 13 Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Multiple Submitters No Conflicts	CA347417	rs_797045706	6 SubmittersRCV000194216 RCV000672938 RCV003474946 RCV003765230
NM_025114.4(CEP290):c.4243G>T (p.Glu1415Ter)	SNV Germline	Chr12:88086450	Likely pathogenic	Bardet-Biedl syndrome Senior-Loken syndrome 6 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis	Criteria Provided Single Submitter	CA347348	rs_797044604	2 SubmittersRCV000192446 RCV006640445
NM_015910.7(WDPCP):c.985G>A (p.Val329Met)	SNV Germline	Chr2:63404498	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Condition: not provided Bardet-Biedl syndrome 15	Criteria Provided Conflicting Classifications	CA338533	rs_199959383	3 SubmittersRCV000199301 RCV000224332 RCV001094642
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_198428.3(BBS9):c.1370T>A (p.Leu457Ter)	SNV Germline	Chr7:33349108	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome Bardet-Biedl syndrome 9	Criteria Provided Multiple Submitters No Conflicts	CA338649	rs_762511626	2 SubmittersRCV000199446 RCV003462313
NM_198428.3(BBS9):c.1423G>T (p.Glu475Ter)	SNV Germline	Chr7:33349161	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome Bardet-Biedl syndrome 9 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA335980	rs_863224534	4 SubmittersRCV000195839 RCV002485317 RCV006731840
NM_198428.3(BBS9):c.2646C>A (p.Leu882=)	SNV Germline	Chr7:33605208	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Bardet-Biedl syndrome 9 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA335939	rs_61753527	6 SubmittersRCV000195790 RCV001095142 RCV001818481 RCV005243157
NM_024685.4(BBS10):c.531C>A (p.Tyr177Ter)	SNV Germline	Chr12:76347454	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome Bardet-Biedl syndrome 10	Criteria Provided Multiple Submitters No Conflicts	CA336530	rs_863224522	5 SubmittersRCV000196568 RCV000409505
NM_144596.4(TTC8):c.1077C>T (p.Asn359=)	SNV Germline	Chr14:88871576	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome not specified Retinitis pigmentosa Bardet-Biedl syndrome 8 Condition: not provided	Criteria Provided Conflicting Classifications	CA339465	rs_150896551	7 SubmittersRCV000200657 RCV000249386 RCV001116280 RCV001117715 RCV001579358
NM_144596.4(TTC8):c.1464G>C (p.Ala488=)	SNV Germline	Chr14:88877326	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome not specified Retinitis pigmentosa Bardet-Biedl syndrome 8 Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA336017	rs_142073418	8 SubmittersRCV000195887 RCV000248272 RCV001121289 RCV001119277 RCV001795322 RCV004816339
NM_031885.5(BBS2):c.1523A>C (p.Gln508Pro)	SNV Germline	Chr16:56499782	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Bardet-Biedl syndrome 2 not specified Condition: not provided BBS2-related disorder	Criteria Provided Conflicting Classifications	CA338335	rs_115328064	9 SubmittersRCV000199008 RCV000665496 RCV001818493 RCV001729451 RCV004530199
NM_170784.3(MKKS):c.1553G>A (p.Arg518His)	SNV Germline	Chr20:10405407	Conflicting classifications of pathogenicity	Condition: not provided McKusick-Kaufman syndrome Bardet-Biedl syndrome 6 McKusick-Kaufman syndrome Bardet-Biedl syndrome not specified MKKS-related disorder	Criteria Provided Conflicting Classifications	CA338007	rs_149051148	10 SubmittersRCV000782192 RCV000990283 RCV001137687 RCV001087733 RCV001699063 RCV004528986
NM_176824.3(BBS7):c.949C>G (p.Leu317Val)	SNV Germline	Chr4:121847492	Likely pathogenic	Bardet-Biedl syndrome 7 Retinal dystrophy	Criteria Provided Single Submitter	CA351663	rs_869025207	2 SubmittersRCV000207525 RCV004816342
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_033028.5(BBS4):c.406-2A>G	SNV Germline	Chr15:72722792	Pathogenic	Bardet-Biedl syndrome 4	No Assertion Criteria Provided	CA065314	rs_113994191	1 SubmittersRCV000207846
NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys)	SNV Germline	Chr8:93786255	Conflicting classifications of pathogenicity	Joubert syndrome 6 Oligohydramnios Renal cyst Joubert syndrome Inborn genetic diseases 14 conditions Joubert syndrome 6 COACH syndrome 1 Meckel syndrome, type 3 Bardet-Biedl syndrome 14 Nephronophthisis 11 Meckel-Gruber syndrome Joubert syndrome 6 conditions Meckel syndrome, type 3	Criteria Provided Conflicting Classifications	CA277817	rs_752362727	6 SubmittersRCV000201784 RCV000414925 RCV000623940 RCV000627003 RCV000763609 RCV001853244 RCV005042432 RCV003997037
NM_025114.4(CEP290):c.6939C>A (p.Tyr2313Ter)	SNV Unknown	Chr12:88055597	Pathogenic	Joubert syndrome 5 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA279539	rs_863225187	2 SubmittersRCV000201753 RCV004567442
NM_025114.4(CEP290):c.5932C>T (p.Arg1978Ter)	SNV Germline	Chr12:88071373	Pathogenic	Joubert syndrome 5 Condition: not provided Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Retinal dystrophy Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA277735	rs_371525247	9 SubmittersRCV000201627 RCV000598256 RCV001382359 RCV003468924 RCV004798806 RCV004816348 RCV005003554 RCV006640458
NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter)	SNV Germline	Chr12:88079112	Pathogenic	Joubert syndrome 5 Condition: not provided Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Bardet-Biedl syndrome 14 CEP290-related disorder Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA277810	rs_575767207	10 SubmittersRCV000201766 RCV000598977 RCV000763310 RCV001058542 RCV003468923 RCV004732784 RCV005361163 RCV005623073 RCV006640457
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter)	SNV Germline	Chr12:88083161	Pathogenic	Joubert syndrome 5 Blindness Global developmental delay Condition: not provided Occipital encephalocele Cystic renal dysplasia Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Joubert syndrome 5 Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis Inborn genetic diseases Bardet-Biedl syndrome 14 CEP290-related disorder Retinal dystrophy Autosomal recessive CEP290-related disorders CEP290-related ciliopathy	Criteria Provided Multiple Submitters No Conflicts	CA277760	rs_376493409	15 SubmittersRCV000201672 RCV000414892 RCV000493605 RCV000626966 RCV000763311 RCV000806654 RCV001271568 RCV002519581 RCV003462354 RCV004732783 RCV004816347 RCV006695574 RCV006741247
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter)	SNV Germline	Chr12:88084768	Pathogenic	Joubert syndrome 5 Condition: not provided Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Leber congenital amaurosis Leber congenital amaurosis 10 Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA277724	rs_749439750	14 SubmittersRCV000201597 RCV000521437 RCV001036850 RCV001828040 RCV002250594 RCV002485329 RCV003155122 RCV003468926 RCV004816349
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter)	SNV Germline	Chr12:88086083	Pathogenic	Joubert syndrome 5 Meckel syndrome, type 4 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Occipital encephalocele Condition: not provided Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 CEP290-related disorder CEP290-related ciliopathy	Reviewed By Expert Panel	CA277705	rs_539400286	18 SubmittersRCV000201563 RCV000502726 RCV000763314 RCV001002937 RCV000816913 RCV001030764 RCV001529566 RCV001589085 RCV003468919 RCV004732782 RCV006731843
NM_025114.4(CEP290):c.1623+1G>A	SNV Germline	Chr12:88118642	Pathogenic	Joubert syndrome 5 Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10 Retinal disorder Leber congenital amaurosis Autosomal recessive CEP290-related disorders	Criteria Provided Multiple Submitters No Conflicts	CA279529	rs_863225186	9 SubmittersRCV000201746 RCV001044809 RCV001808559 RCV003468922 RCV005008141 RCV005860033 RCV006635321 RCV006640456 RCV006695573
NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu)	SNV Germline	Chr17:58207959	Pathogenic/Likely pathogenic	Joubert syndrome Condition: not provided Bardet-Biedl syndrome 13 Meckel syndrome, type 1 Joubert syndrome 28 Meckel-Gruber syndrome Joubert syndrome MKS1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA210326	rs_773684291	7 SubmittersRCV000201754 RCV000479872 RCV000984285 RCV000984284 RCV000984286 RCV001853235 RCV004732785
NM_017777.4(MKS1):c.493C>T (p.Arg165Cys)	SNV Germline	Chr17:58214763	Conflicting classifications of pathogenicity	Joubert syndrome Bardet-Biedl syndrome 13 Meckel syndrome, type 1 Joubert syndrome 28 Bardet-Biedl syndrome 13 Meckel syndrome, type 1 Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Conflicting Classifications	CA210278	rs_779953982	5 SubmittersRCV000201596 RCV000675062 RCV001123799 RCV001123798 RCV002517312
NM_015910.7(WDPCP):c.176T>A (p.Ile59Asn)	SNV Germline	Chr2:63487479	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Bardet-Biedl syndrome 15 Heart defect - tongue hamartoma - polysyndactyly syndrome Bardet-Biedl syndrome 15 Condition: not provided WDPCP-related disorder	Criteria Provided Conflicting Classifications	CA350616	rs_202196322	10 SubmittersRCV000206601 RCV000765695 RCV001094650 RCV001706202 RCV003917847
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_001374353.1(GLI2):c.1808C>T (p.Thr603Met)	SNV Germline	Chr2:120984646	Conflicting classifications of pathogenicity	Anophthalmia-microphthalmia syndrome Holoprosencephaly 9 not specified Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome Holoprosencephaly 9 Condition: not provided Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA071626	rs_142775128	11 SubmittersRCV000207367 RCV000263942 RCV000309933 RCV000873686 RCV001705180 RCV003224225
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp)	SNV Germline	Chr12:76348214	Pathogenic/Likely pathogenic	Inborn genetic diseases Bardet-Biedl syndrome 10 6 conditions Bardet-Biedl syndrome Retinal dystrophy Condition: not provided BBS10-related disorder Bardet-Biedl syndrome 1 BBS10-related ciliopathy	Criteria Provided Multiple Submitters No Conflicts	CA358165	rs_768933093	18 SubmittersRCV000210662 RCV000576728 RCV000626963 RCV000799037 RCV001075496 RCV001291592 RCV003407735 RCV003228914 RCV006648387
NM_017777.4(MKS1):c.508C>T (p.Arg170Ter)	SNV Germline	Chr17:58214748	Pathogenic/Likely pathogenic	Condition: not provided Bardet-Biedl syndrome 13 Meckel syndrome, type 1 Joubert syndrome 28 Meckel-Gruber syndrome Joubert syndrome Bardet-Biedl syndrome 13 MKS1-related disorder Meckel syndrome, type 1	Criteria Provided Multiple Submitters No Conflicts	CA8669502	rs_756853299	7 SubmittersRCV000224251 RCV000668874 RCV001049084 RCV003475049 RCV004732799 RCV006640487
NM_024685.4(BBS10):c.765G>A (p.Met255Ile)	SNV Germline	Chr12:76347220	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome 10 Bardet-Biedl syndrome 1 Bardet-Biedl syndrome not specified BBS10-related disorder	Criteria Provided Conflicting Classifications	CA6694290	rs_139658279	14 SubmittersRCV000224072 RCV000667212 RCV000625184 RCV000801717 RCV001706242 RCV003417800
NM_025114.4(CEP290):c.251-11T>A	SNV Germline	Chr12:88139202	Conflicting classifications of pathogenicity	Condition: not provided not specified Joubert syndrome 5 Meckel syndrome, type 4 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome CEP290-related disorder Thymoma	Criteria Provided Conflicting Classifications	CA6712862	rs_200666995	8 SubmittersRCV000224686 RCV000244417 RCV001109952 RCV001109954 RCV001109953 RCV001109955 RCV001109951 RCV001518146 RCV004529386 RCV005895161
NM_031885.5(BBS2):c.805-20A>G	SNV Germline	Chr16:56502828	Conflicting classifications of pathogenicity	Condition: not provided not specified Bardet-Biedl syndrome 1 Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA8065911	rs_41280892	9 SubmittersRCV000224448 RCV000242904 RCV000709638 RCV001081960
NM_017777.4(MKS1):c.368G>A (p.Arg123Gln)	SNV Germline	Chr17:58216137	Conflicting classifications of pathogenicity	Condition: not provided not specified Meckel-Gruber syndrome Joubert syndrome Bardet-Biedl syndrome 13 Meckel syndrome, type 1 Joubert syndrome 28 Bardet-Biedl syndrome 13 Meckel syndrome, type 1 MKS1-related disorder	Criteria Provided Conflicting Classifications	CA8669556	rs_202112856	11 SubmittersRCV000224664 RCV000318559 RCV000695608 RCV000765373 RCV001126448 RCV001126449 RCV004541364
NM_025114.4(CEP290):c.1781T>A (p.Leu594Ter)	SNV Germline	Chr12:88117076	Pathogenic	Retinal dystrophy Condition: not provided Leber congenital amaurosis Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA6712475	rs_371496675	7 SubmittersRCV000225634 RCV000522611 RCV001274126 RCV001389936 RCV002500754 RCV003463626 RCV004532829
NM_025114.4(CEP290):c.297+1G>T	SNV Germline	Chr12:88139144	Pathogenic	Retinal dystrophy Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Condition: not provided Leber congenital amaurosis Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 CEP290-related ciliopathy	Reviewed By Expert Panel	CA10581686	rs_878853360	8 SubmittersRCV000225517 RCV001223284 RCV001782716 RCV001833239 RCV003155133 RCV003469116 RCV005003571 RCV006731861
NM_033028.5(BBS4):c.712-1G>A	SNV Germline	Chr15:72731304	Pathogenic/Likely pathogenic	Retinal dystrophy Bardet-Biedl syndrome Bardet-Biedl syndrome 4 BBS4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA7646750	rs_377031435	7 SubmittersRCV000225493 RCV000638346 RCV000778446 RCV003937879
NM_015102.5(NPHP4):c.2219G>A (p.Arg740His)	SNV Germline	Chr1:5890953	Conflicting classifications of pathogenicity	Nephronophthisis not specified Senior-Loken syndrome 4 Nephronophthisis 4 Atypical hemolytic-uremic syndrome Bardet-Biedl syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA554238	rs_34248917	9 SubmittersRCV000233672 RCV000248287 RCV000364078 RCV001093858 RCV002294087 RCV003224236 RCV004713425
NM_198428.3(BBS9):c.2336T>A (p.Leu779Gln)	SNV Germline	Chr7:33533991	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome not specified	Criteria Provided Conflicting Classifications	CA4214668	rs_142434516	4 SubmittersRCV000514762 RCV001086797 RCV003151001
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_025114.4(CEP290):c.6870T>C (p.Asn2290=)	SNV Germline	Chr12:88055666	Conflicting classifications of pathogenicity	Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6711411	rs_572443869	3 SubmittersRCV000226860 RCV001109945 RCV001109947 RCV001109944 RCV001109946 RCV001109948 RCV004725118
NM_025114.4(CEP290):c.4938A>G (p.Lys1646=)	SNV Germline	Chr12:88083105	Conflicting classifications of pathogenicity	Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6711827	rs_371582975	4 SubmittersRCV000225844 RCV000763863 RCV001273065 RCV004529415
NM_025114.4(CEP290):c.2551G>A (p.Val851Ile)	SNV Germline	Chr12:88107031	Conflicting classifications of pathogenicity	Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis Condition: not provided Inborn genetic diseases Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712316	rs_764963626	9 SubmittersRCV000228050 RCV000763866 RCV001271583 RCV002274949 RCV002518359 RCV003227727 RCV004529413
NM_017777.4(MKS1):c.1498A>G (p.Met500Val)	SNV Germline	Chr17:58206373	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 13 Meckel syndrome, type 1 Condition: not provided Meckel-Gruber syndrome Joubert syndrome Inborn genetic diseases MKS1-related disorder Meckel syndrome, type 1 Bardet-Biedl syndrome 13 Joubert syndrome 28	Criteria Provided Conflicting Classifications	CA8669097	rs_144635826	7 SubmittersRCV000316438 RCV000380158 RCV000513283 RCV001084685 RCV002519801 RCV004529411 RCV005396816
NM_017777.4(MKS1):c.544G>A (p.Val182Ile)	SNV Germline	Chr17:58214359	Conflicting classifications of pathogenicity	Meckel-Gruber syndrome Joubert syndrome Condition: not provided Bardet-Biedl syndrome 13 Meckel syndrome, type 1 Joubert syndrome 28 Bardet-Biedl syndrome 13 Meckel syndrome, type 1 not specified Inborn genetic diseases MKS1-related disorder	Criteria Provided Conflicting Classifications	CA8669471	rs_200185068	9 SubmittersRCV000226628 RCV000728102 RCV000765372 RCV001122692 RCV001122693 RCV001820754 RCV002518354 RCV004532953
NM_025103.4(IFT74):c.1685-1G>T	SNV Germline	Chr9:27062617	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 22 Condition: not provided IFT74-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA5015766	rs_200699377	6 SubmittersRCV000240867 RCV002518558 RCV003409371
NM_017777.4(MKS1):c.1491-2A>G	SNV Germline	Chr17:58206382	Likely pathogenic	Joubert syndrome 28 Bardet-Biedl syndrome 13 Meckel syndrome, type 1 Joubert syndrome 28 Meckel syndrome, type 1	Criteria Provided Multiple Submitters No Conflicts	CA10586693	rs_886038203	3 SubmittersRCV000241543 RCV005025397 RCV006640515
NM_006642.5(SDCCAG8):c.547-4T>G	SNV Germline	Chr1:243293087	Conflicting classifications of pathogenicity	not specified Senior-Loken syndrome 7 Bardet-Biedl syndrome 16	Criteria Provided Conflicting Classifications	CA1483344	rs_12080579	3 SubmittersRCV000242044 RCV001459481
NM_006642.5(SDCCAG8):c.964G>A (p.Val322Ile)	SNV Germline	Chr1:243316789	Conflicting classifications of pathogenicity	not specified Senior-Loken syndrome 7 Bardet-Biedl syndrome 16	Criteria Provided Conflicting Classifications	CA1483504	rs_6672843	3 SubmittersRCV000242555 RCV001042143
NM_015910.7(WDPCP):c.1788C>T (p.Asp596=)	SNV Germline	Chr2:63313272	Conflicting classifications of pathogenicity	not specified Bardet-Biedl syndrome 15 Condition: not provided Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA1682114	rs_185980830	4 SubmittersRCV000247346 RCV000283412 RCV000731125 RCV001444306
NM_012210.4(TRIM32):c.770C>G (p.Thr257Arg)	SNV Germline	Chr9:116698512	Conflicting classifications of pathogenicity	not specified Sarcotubular myopathy Bardet-Biedl syndrome Bardet-Biedl syndrome 11 Condition: not provided	Criteria Provided Conflicting Classifications	CA5211042	rs_3747834	6 SubmittersRCV000247857 RCV000310268 RCV000364969 RCV001095303 RCV001706347
NM_012210.4(TRIM32):c.1710G>A (p.Ser570=)	SNV Germline	Chr9:116699452	Conflicting classifications of pathogenicity	not specified Condition: not provided Bardet-Biedl syndrome Sarcotubular myopathy Bardet-Biedl syndrome 11	Criteria Provided Conflicting Classifications	CA5211198	rs_555217187	6 SubmittersRCV000243103 RCV000726537 RCV001229040 RCV006713361
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_025114.4(CEP290):c.5506A>G (p.Ile1836Val)	SNV Germline	Chr12:88077777	Conflicting classifications of pathogenicity	not specified Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Condition: not provided Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Leber congenital amaurosis Hepatocellular carcinoma	Criteria Provided Conflicting Classifications	CA6711707	rs_11104729	12 SubmittersRCV000246283 RCV000297940 RCV000338834 RCV000342377 RCV000391752 RCV000402056 RCV000514061 RCV001084053 RCV001828148 RCV005894212
NM_025114.4(CEP290):c.4806G>A (p.Thr1602=)	SNV Germline	Chr12:88083853	Conflicting classifications of pathogenicity	not specified Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Condition: not provided Leber congenital amaurosis	Criteria Provided Conflicting Classifications	CA6711863	rs_201614215	8 SubmittersRCV000243671 RCV000283968 RCV000328558 RCV000270848 RCV000338967 RCV000383188 RCV000860688 RCV001546981 RCV001833282
NM_025114.4(CEP290):c.1669C>T (p.Arg557Cys)	SNV Germline	Chr12:88118525	Conflicting classifications of pathogenicity	not specified Joubert syndrome 5 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6712494	rs_561018129	5 SubmittersRCV000249364 RCV001195819 RCV001241555 RCV005008220 RCV005318354
NM_025114.4(CEP290):c.1298A>G (p.Asp433Gly)	SNV Germline	Chr12:88121058	Conflicting classifications of pathogenicity	not specified Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Bardet-Biedl syndrome 14 Joubert syndrome 5 Senior-Loken syndrome 6 Meckel syndrome, type 4 Leber congenital amaurosis 10 Leber congenital amaurosis Condition: not provided	Criteria Provided Conflicting Classifications	CA6712583	rs_200211587	9 SubmittersRCV000244107 RCV000860381 RCV001109774 RCV001113800 RCV001113801 RCV001113802 RCV001113799 RCV001275038 RCV001311004
NM_144596.4(TTC8):c.-25G>A	SNV Germline	Chr14:88824683	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 8 Retinitis pigmentosa TTC8-related disorder	Criteria Provided Conflicting Classifications	CA7302283	rs_7145692	2 SubmittersRCV000270079 RCV000362261 RCV003891984
NM_144596.4(TTC8):c.194A>G (p.Asp65Gly)	SNV Germline	Chr14:88839501	Conflicting classifications of pathogenicity	not specified Bardet-Biedl syndrome Bardet-Biedl syndrome 8 Retinitis pigmentosa Uterine corpus endometrial carcinoma Condition: not provided	Criteria Provided Conflicting Classifications	CA7302389	rs_114557412	9 SubmittersRCV000253058 RCV000470558 RCV001117604 RCV001117605 RCV005894290 RCV006445628
NM_144596.4(TTC8):c.669G>A (p.Lys223=)	SNV Germline	Chr14:88853015	Conflicting classifications of pathogenicity	not specified Bardet-Biedl syndrome Retinitis pigmentosa Bardet-Biedl syndrome 8 Condition: not provided	Criteria Provided Conflicting Classifications	CA7302555	rs_141304350	6 SubmittersRCV000245276 RCV000316005 RCV000372849 RCV001094457 RCV001531819
NM_144596.4(TTC8):c.1401G>A (p.Pro467=)	SNV Germline	Chr14:88875079	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa Bardet-Biedl syndrome Bardet-Biedl syndrome 8 TTC8-related disorder	Criteria Provided Conflicting Classifications	CA7302749	rs_114064158	4 SubmittersRCV000254174 RCV000307936 RCV000341748 RCV001094321 RCV003891985
NM_031885.5(BBS2):c.367A>G (p.Ile123Val)	SNV Germline	Chr16:56511263	Conflicting classifications of pathogenicity	not specified Bardet-Biedl syndrome Bardet-Biedl syndrome 2 Bardet-Biedl syndrome 1 Retinitis pigmentosa 74 Condition: not provided Retinal dystrophy Early onset severe obesity	Criteria Provided Conflicting Classifications	CA8066062	rs_11373	14 SubmittersRCV000241605 RCV000261972 RCV000576482 RCV000709672 RCV001526785 RCV001706364 RCV003888665 RCV006629118
NM_017777.4(MKS1):c.1014G>A (p.Leu338=)	SNV Germline	Chr17:58210669	Conflicting classifications of pathogenicity	not specified Meckel syndrome, type 1 Bardet-Biedl syndrome 13 Joubert syndrome Meckel-Gruber syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA8669311	rs_201998680	6 SubmittersRCV000251480 RCV000371335 RCV000392760 RCV000863475 RCV001561974
NM_017777.4(MKS1):c.515+12C>T	SNV Germline	Chr17:58214729	Conflicting classifications of pathogenicity	not specified Bardet-Biedl syndrome 13 Meckel syndrome, type 1 Joubert syndrome Meckel-Gruber syndrome Gastric cancer Sarcoma	Criteria Provided Conflicting Classifications	CA8669498	rs_372527189	5 SubmittersRCV000248513 RCV001122697 RCV001122696 RCV001520944 RCV005894019 RCV005894018
NM_198428.3(BBS9):c.1759C>T (p.Arg587Ter)	SNV Germline	Chr7:33367832	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 9 Bardet-Biedl syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10588819	rs_746797123	5 SubmittersRCV000256188 RCV002518770 RCV004696894
NM_198428.3(BBS9):c.785T>C (p.Val262Ala)	SNV Germline	Chr7:33273094	Likely pathogenic	Bardet-Biedl syndrome 9	No Assertion Criteria Provided	CA10588927	rs_886039875	1 SubmittersRCV000256397
NM_014408.5(TRAPPC3):c.184C>T (p.Arg62Trp)	SNV Germline	Chr1:36139776	Likely pathogenic	Bardet-Biedl syndrome	No Assertion Criteria Provided	CA765333	rs_751375244	1 SubmittersRCV000256478
NM_198428.3(BBS9):c.223C>T (p.Arg75Ter)	SNV Germline	Chr7:33152811	Pathogenic	Bardet-Biedl syndrome Retinal vascular dystrophy BBS9-related disorder Bardet-Biedl syndrome 9	Criteria Provided Multiple Submitters No Conflicts	CA4213903	rs_775081992	6 SubmittersRCV000256453 RCV000787795 RCV003409389 RCV003463723
NM_198428.3(BBS9):c.2115+1G>A	SNV Germline	Chr7:33388145	Likely pathogenic	Bardet-Biedl syndrome	Criteria Provided Single Submitter	CA10588964	rs_886039801	2 SubmittersRCV000256470
NM_033028.5(BBS4):c.172C>T (p.Gln58Ter)	SNV Germline	Chr15:72712259	Pathogenic	Bardet-Biedl syndrome Bardet-Biedl syndrome 4	Criteria Provided Single Submitter	CA10588975	rs_886039802	2 SubmittersRCV000256420 RCV003463722
NM_031885.5(BBS2):c.806T>G (p.Val269Gly)	SNV Germline	Chr16:56502807	Likely pathogenic	Bardet-Biedl syndrome	No Assertion Criteria Provided	CA10588977	rs_886039797	1 SubmittersRCV000256466
NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter)	SNV Germline	Chr12:88114536	Pathogenic	Condition: not provided Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Retinal dystrophy Joubert syndrome 5 Leber congenital amaurosis Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA6712427	rs_780225183	8 SubmittersRCV000313260 RCV000636991 RCV001075417 RCV001199213 RCV001833301 RCV002500965 RCV003463734
NM_033028.5(BBS4):c.1106+2T>A	SNV Germline	Chr15:72735184	Pathogenic/Likely pathogenic	Condition: not provided Bardet-Biedl syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10603266	rs_886041464	3 SubmittersRCV000344104 RCV000787534
NM_012210.4(TRIM32):c.339G>C (p.Arg113=)	SNV Germline	Chr9:116698081	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome TRIM32-related disorder	Criteria Provided Conflicting Classifications	CA5210950	rs_150477945	3 SubmittersRCV000262418 RCV002059068 RCV003939932
NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr)	SNV Germline	Chr17:58207143	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome Meckel-Gruber syndrome Joubert syndrome Bardet-Biedl syndrome 13 Meckel syndrome, type 1 Joubert syndrome 28 not specified MKS1-related disorder Optic atrophy Retinal dystrophy	Criteria Provided Conflicting Classifications	CA8669161	rs_200865108	13 SubmittersRCV000280753 RCV001003078 RCV001087577 RCV001122598 RCV001128316 RCV001578757 RCV001820804 RCV004542971 RCV004816474 RCV004816473
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter)	SNV Germline	Chr12:88106770	Pathogenic	Condition: not provided Cone-rod dystrophy Joubert syndrome 1 Joubert syndrome Meckel-Gruber syndrome Nephronophthisis CEP290-related disorder Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14 Retinal dystrophy Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA10603872	rs_886042153	13 SubmittersRCV000382757 RCV000787815 RCV000988885 RCV001380938 RCV002222465 RCV002479997 RCV003447521 RCV003469220 RCV004816477 RCV006640534
NM_017777.4(MKS1):c.118C>T (p.His40Tyr)	SNV Germline	Chr17:58218692	Conflicting classifications of pathogenicity	Condition: not provided Meckel syndrome, type 1 Bardet-Biedl syndrome 13 Joubert syndrome 28 Joubert syndrome Meckel-Gruber syndrome Meckel syndrome, type 1 not specified MKS1-related disorder	Criteria Provided Conflicting Classifications	CA8669639	rs_199832333	9 SubmittersRCV000724912 RCV000765374 RCV001062255 RCV001274930 RCV001820805 RCV004535260
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_025114.4(CEP290):c.181-2A>G	SNV Germline	Chr12:88139566	Pathogenic/Likely pathogenic	Condition: not provided Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA10604124	rs_886042359	5 SubmittersRCV000262913 RCV001859558 RCV003469222 RCV005008234 RCV006640537
NM_025114.4(CEP290):c.5803G>T (p.Glu1935Ter)	SNV Germline	Chr12:88071833	Pathogenic/Likely pathogenic	Condition: not provided Leber congenital amaurosis Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Bardet-Biedl syndrome 14 CEP290-related disorder Thyroid cancer, nonmedullary, 1	Criteria Provided Multiple Submitters No Conflicts	CA10604125	rs_886042360	8 SubmittersRCV000593831 RCV001199656 RCV001384490 RCV003469223 RCV004732816 RCV005895577
NM_025114.4(CEP290):c.4476A>G (p.Glu1492=)	SNV Germline	Chr12:88084814	Conflicting classifications of pathogenicity	not specified Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 Condition: not provided	Criteria Provided Conflicting Classifications	CA6711925	rs_181248369	4 SubmittersRCV000276958 RCV000863632 RCV001113144 RCV001113145 RCV001113143 RCV001114512 RCV001114513 RCV001697702
NM_012210.4(TRIM32):c.201T>C (p.Ile67=)	SNV Germline	Chr9:116697943	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome TRIM32-related disorder	Criteria Provided Conflicting Classifications	CA5210919	rs_780799984	4 SubmittersRCV000273497 RCV001086454 RCV003939960
NM_012210.4(TRIM32):c.319C>T (p.Leu107=)	SNV Germline	Chr9:116698061	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome TRIM32-related disorder	Criteria Provided Conflicting Classifications	CA10604198	rs_886042410	3 SubmittersRCV000264183 RCV002059110 RCV003947849
NM_012210.4(TRIM32):c.370C>T (p.Arg124Trp)	SNV Germline	Chr9:116698112	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 11 Sarcotubular myopathy Condition: not provided Bardet-Biedl syndrome TRIM32-related disorder	Criteria Provided Conflicting Classifications	CA5210955	rs_572052810	8 SubmittersRCV000281057 RCV000336149 RCV000725279 RCV001516086 RCV003939975
NM_031885.5(BBS2):c.1380C>T (p.Phe460=)	SNV Germline	Chr16:56500871	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome Bardet-Biedl syndrome 2	Criteria Provided Conflicting Classifications	CA8065757	rs_141046144	5 SubmittersRCV000325399 RCV001081449 RCV001116873
NM_024685.4(BBS10):c.197+1G>T	SNV Germline	Chr12:76348161	Pathogenic/Likely pathogenic	Condition: not provided Bardet-Biedl syndrome 10 Bardet-Biedl syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10604614	rs_886042729	7 SubmittersRCV000276223 RCV000984152 RCV001859589
NM_012210.4(TRIM32):c.6T>G (p.Ala2=)	SNV Germline	Chr9:116697748	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome not specified	Criteria Provided Conflicting Classifications	CA5210884	rs_141352486	5 SubmittersRCV000725427 RCV001088595 RCV003151008
NM_033028.5(BBS4):c.1450+10T>C	SNV Germline	Chr15:72736973	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA10604758	rs_886042845	2 SubmittersRCV000403877 RCV002519147
NM_006642.5(SDCCAG8):c.597C>A (p.Gly199=)	SNV Germline	Chr1:243293141	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 SDCCAG8-related disorder	Criteria Provided Conflicting Classifications	CA1483357	rs_143407309	6 SubmittersRCV000404550 RCV001101445 RCV001087041 RCV001101444 RCV004535320
NM_031885.5(BBS2):c.1864C>T (p.Arg622Ter)	SNV Germline	Chr16:56497013	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 2 Condition: not provided Bardet-Biedl syndrome Bardet-Biedl syndrome 2 Retinitis pigmentosa 74	Criteria Provided Multiple Submitters No Conflicts	CA8065604	rs_201196733	9 SubmittersRCV000335732 RCV000424669 RCV000531316 RCV002502120
NM_012210.4(TRIM32):c.1223G>A (p.Arg408His)	SNV Germline	Chr9:116698965	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome TRIM32-related disorder Sarcotubular myopathy Bardet-Biedl syndrome 11	Criteria Provided Conflicting Classifications	CA5211121	rs_183136193	8 SubmittersRCV000343347 RCV000638371 RCV003417895 RCV006713383
NM_012210.4(TRIM32):c.1140C>T (p.Thr380=)	SNV Germline	Chr9:116698882	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome TRIM32-related disorder	Criteria Provided Conflicting Classifications	CA5211108	rs_142715198	3 SubmittersRCV000366722 RCV000554974 RCV003920090
NM_012210.4(TRIM32):c.467T>C (p.Leu156Pro)	SNV Germline	Chr9:116698209	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome TRIM32-related disorder Autosomal recessive limb-girdle muscular dystrophy Sarcotubular myopathy Bardet-Biedl syndrome 11	Criteria Provided Conflicting Classifications	CA5210987	rs_145907585	6 SubmittersRCV000408167 RCV001038537 RCV003401251 RCV005418046 RCV006713384
NM_031885.5(BBS2):c.118G>T (p.Val40Phe)	SNV Germline	Chr16:56514680	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 2 Condition: not provided Retinal dystrophy Retinitis pigmentosa 74 Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA10605056	rs_886043059	8 SubmittersRCV000305383 RCV000725618 RCV001075302 RCV002250616 RCV002519177
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_031885.5(BBS2):c.1953T>C (p.Asn651=)	SNV Germline	Chr16:56485696	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome Bardet-Biedl syndrome 2	Criteria Provided Conflicting Classifications	CA8065568	rs_200621431	3 SubmittersRCV000261769 RCV001239950 RCV001833351
NM_198428.3(BBS9):c.1308T>C (p.Leu436=)	SNV Germline	Chr7:33344613	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA10605289	rs_886043248	2 SubmittersRCV000310612 RCV001392507
NM_025114.4(CEP290):c.4437+1G>A	SNV Germline	Chr12:88086038	Pathogenic/Likely pathogenic	Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Condition: not provided Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 CEP290-related disorder Leber congenital amaurosis Uterine carcinosarcoma	Criteria Provided Multiple Submitters No Conflicts	CA6711940	rs_760915898	10 SubmittersRCV000473837 RCV000498064 RCV000763313 RCV000779117 RCV001271571 RCV005895728
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_198428.3(BBS9):c.1918A>G (p.Ile640Val)	SNV Germline	Chr7:33383794	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome BBS9-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4214544	rs_144112103	4 SubmittersRCV000392986 RCV001242482 RCV004745320 RCV005520264
NM_017777.4(MKS1):c.1388G>A (p.Arg463Gln)	SNV Germline	Chr17:58207104	Conflicting classifications of pathogenicity	Meckel syndrome, type 1 not specified Bardet-Biedl syndrome Condition: not provided Joubert syndrome Meckel-Gruber syndrome Bardet-Biedl syndrome 13 Cervical cancer Uterine corpus endometrial carcinoma Sarcoma Thymoma Thyroid cancer, nonmedullary, 1 Early onset severe obesity	Criteria Provided Conflicting Classifications	CA8669152	rs_201619500	16 SubmittersRCV000285730 RCV000335464 RCV000400230 RCV000514906 RCV001083793 RCV001094550 RCV005895757 RCV005895761 RCV005895758 RCV005895759 RCV005895760 RCV006439914
NM_176824.3(BBS7):c.1158A>G (p.Thr386=)	SNV Germline	Chr4:121845576	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome Bardet-Biedl syndrome 7 not specified	Criteria Provided Conflicting Classifications	CA3064312	rs_146617227	4 SubmittersRCV000363420 RCV000381224 RCV001094823 RCV001820824
NM_024685.4(BBS10):c.483A>G (p.Lys161=)	SNV Germline	Chr12:76347502	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome Bardet-Biedl syndrome 10 BBS10-related disorder	Criteria Provided Conflicting Classifications	CA6694328	rs_748732850	4 SubmittersRCV000383300 RCV001045375 RCV001833376 RCV003949902
NM_012210.4(TRIM32):c.330A>G (p.Gln110=)	SNV Germline	Chr9:116698072	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome TRIM32-related disorder	Criteria Provided Conflicting Classifications	CA5210946	rs_770015462	3 SubmittersRCV000363944 RCV000694842 RCV003949913
NM_012210.4(TRIM32):c.1659C>G (p.Gly553=)	SNV Germline	Chr9:116699401	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA10606036	rs_150318692	2 SubmittersRCV000344739 RCV002518030
NM_012210.4(TRIM32):c.404C>T (p.Thr135Ile)	SNV Germline	Chr9:116698146	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome TRIM32-related disorder Sarcotubular myopathy Bardet-Biedl syndrome 11	Criteria Provided Conflicting Classifications	CA5210967	rs_141953092	5 SubmittersRCV000321431 RCV001038705 RCV004748697 RCV006713392
NM_012210.4(TRIM32):c.1848T>C (p.Leu616=)	SNV Germline	Chr9:116699590	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA10606071	rs_886043881	2 SubmittersRCV000285644 RCV006462350
NM_012210.4(TRIM32):c.939G>A (p.Ala313=)	SNV Germline	Chr9:116698681	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA5211073	rs_375442860	2 SubmittersRCV000285686 RCV002059237
NM_012210.4(TRIM32):c.521C>T (p.Ser174Phe)	SNV Germline	Chr9:116698263	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome TRIM32-related disorder Inborn genetic diseases Sarcotubular myopathy Bardet-Biedl syndrome 11	Criteria Provided Conflicting Classifications	CA5210998	rs_138699534	9 SubmittersRCV000402475 RCV000473777 RCV003401264 RCV002518050 RCV006713393
NM_017777.4(MKS1):c.323G>A (p.Arg108His)	SNV Germline	Chr17:58216182	Conflicting classifications of pathogenicity	Condition: not provided Meckel-Gruber syndrome Joubert syndrome MKS1-related disorder Joubert syndrome 28 Meckel syndrome, type 1 Bardet-Biedl syndrome 13	Criteria Provided Conflicting Classifications	CA8669565	rs_200331553	4 SubmittersRCV000352213 RCV001314897 RCV004535431 RCV005016681
NM_025114.4(CEP290):c.6645+1G>A	SNV Germline	Chr12:88059897	Conflicting classifications of pathogenicity	Joubert syndrome 5 Condition: not provided Nephronophthisis Joubert syndrome Meckel-Gruber syndrome Meckel syndrome, type 4 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Inborn genetic diseases Bardet-Biedl syndrome 14 CEP290-related disorder Senior-Loken syndrome 6 Joubert syndrome 5 Malignant tumor of urinary bladder Retinal disorder	Criteria Provided Conflicting Classifications	CA6711459	rs_201218801	13 SubmittersRCV000454208 RCV000497486 RCV000801486 RCV001331377 RCV001833396 RCV002467720 RCV002522012 RCV003463776 RCV004537606 RCV005355616 RCV005895887 RCV006635324
NM_012210.4(TRIM32):c.90G>A (p.Glu30=)	SNV Germline	Chr9:116697832	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA5210899	rs_534259071	2 SubmittersRCV000315580 RCV001436656
NM_012210.4(TRIM32):c.693A>C (p.Ala231=)	SNV Germline	Chr9:116698435	Conflicting classifications of pathogenicity	not specified Condition: not provided Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA5211025	rs_368455215	3 SubmittersRCV000389651 RCV000726486 RCV002059292
NM_025114.4(CEP290):c.6558T>G (p.His2186Gln)	SNV Germline	Chr12:88059985	Conflicting classifications of pathogenicity	Condition: not provided Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Leber congenital amaurosis CEP290-related disorder Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6711473	rs_772603458	7 SubmittersRCV000307481 RCV001368383 RCV001828277 RCV004537615 RCV005003616 RCV005305997
NM_012210.4(TRIM32):c.238C>T (p.Leu80=)	SNV Germline	Chr9:116697980	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome not specified TRIM32-related disorder	Criteria Provided Conflicting Classifications	CA5210927	rs_760820148	4 SubmittersRCV000355667 RCV001501266 RCV001820841 RCV003897656
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_017777.4(MKS1):c.496C>T (p.Arg166Trp)	SNV Germline	Chr17:58214760	Conflicting classifications of pathogenicity	Condition: not provided Meckel-Gruber syndrome Joubert syndrome not specified Meckel syndrome, type 1 MKS1-related disorder Joubert syndrome 28 Meckel syndrome, type 1 Bardet-Biedl syndrome 13	Criteria Provided Conflicting Classifications	CA8669504	rs_201845154	9 SubmittersRCV000283742 RCV001064855 RCV001820845 RCV001828282 RCV004537621 RCV005016684
NM_006642.5(SDCCAG8):c.278C>T (p.Pro93Leu)	SNV Germline	Chr1:243271035	Conflicting classifications of pathogenicity	Senior-Loken syndrome 7 Bardet-Biedl syndrome 16 Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 Bardet-Biedl syndrome SDCCAG8-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA1483252	rs_140413256	5 SubmittersRCV000276217 RCV000389243 RCV000872197 RCV003224254 RCV004537662 RCV005425924
NM_006642.5(SDCCAG8):c.237T>A (p.Asp79Glu)	SNV Germline	Chr1:243270994	Conflicting classifications of pathogenicity	Senior-Loken syndrome 7 Bardet-Biedl syndrome 16 Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 SDCCAG8-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA1483244	rs_146474568	5 SubmittersRCV000310366 RCV000365007 RCV000532918 RCV004537661 RCV005425923
NM_006642.5(SDCCAG8):c.572C>T (p.Thr191Ile)	SNV Germline	Chr1:243293116	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 Condition: not provided Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 SDCCAG8-related disorder	Criteria Provided Conflicting Classifications	CA1483350	rs_150070966	6 SubmittersRCV000342454 RCV000399034 RCV000522463 RCV000763845 RCV004537663
NM_006642.5(SDCCAG8):c.*97G>A	SNV Germline	Chr1:243499882	Conflicting classifications of pathogenicity	Senior-Loken syndrome 7 Bardet-Biedl syndrome 16	Criteria Provided Conflicting Classifications	CA10609951	rs_554190542	1 SubmittersRCV000353118 RCV000402375
NM_006642.5(SDCCAG8):c.306+11A>G	SNV Germline	Chr1:243271074	Conflicting classifications of pathogenicity	Senior-Loken syndrome 7 Bardet-Biedl syndrome 16 Bardet-Biedl syndrome 16 Senior-Loken syndrome 7	Criteria Provided Conflicting Classifications	CA1483265	rs_781456866	3 SubmittersRCV000281933 RCV000318325 RCV002487315
NM_006642.5(SDCCAG8):c.348C>T (p.His116=)	SNV Germline	Chr1:243274584	Conflicting classifications of pathogenicity	Senior-Loken syndrome 7 Bardet-Biedl syndrome 16 Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 Condition: not provided	Criteria Provided Conflicting Classifications	CA1483285	rs_143226730	3 SubmittersRCV000282826 RCV000377375 RCV000872159 RCV006435032
NM_006642.5(SDCCAG8):c.676-4A>G	SNV Germline	Chr1:243304709	Conflicting classifications of pathogenicity	Senior-Loken syndrome 7 Bardet-Biedl syndrome 16 Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 SDCCAG8-related disorder	Criteria Provided Conflicting Classifications	CA1483400	rs_377256554	3 SubmittersRCV000288842 RCV000343855 RCV001493922 RCV004734953
NM_006642.5(SDCCAG8):c.1404G>A (p.Lys468=)	SNV Germline	Chr1:243344262	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 Bardet-Biedl syndrome 16 Senior-Loken syndrome 7	Criteria Provided Conflicting Classifications	CA1483636	rs_759125934	2 SubmittersRCV000321346 RCV000380673 RCV003765736
NM_015910.7(WDPCP):c.2159-13T>C	SNV Germline	Chr2:63152958	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 15 Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA1681973	rs_202221613	2 SubmittersRCV000263002 RCV002057707
NM_015910.7(WDPCP):c.1310G>T (p.Ser437Ile)	SNV Germline	Chr2:63404173	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Bardet-Biedl syndrome 15 Condition: not provided WDPCP-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1682255	rs_367727948	6 SubmittersRCV000344015 RCV001094743 RCV001795954 RCV003910299 RCV004965424
NM_015910.7(WDPCP):c.1079C>T (p.Ser360Leu)	SNV Germline	Chr2:63404404	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Bardet-Biedl syndrome 15 Heart defect - tongue hamartoma - polysyndactyly syndrome Bardet-Biedl syndrome 15 Heart defect - tongue hamartoma - polysyndactyly syndrome WDPCP-related disorder	Criteria Provided Conflicting Classifications	CA1682291	rs_141011629	5 SubmittersRCV000295044 RCV001094641 RCV002502299 RCV003227744 RCV003910300
NM_015910.7(WDPCP):c.2169G>C (p.Leu723=)	SNV Germline	Chr2:63152935	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 15 Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA1681968	rs_746225322	2 SubmittersRCV000367006 RCV003522959
NM_015910.7(WDPCP):c.75+13C>T	SNV Germline	Chr2:63588184	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 15 Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA1682649	rs_182759221	2 SubmittersRCV000266384 RCV002057709
NM_015910.7(WDPCP):c.2113G>T (p.Asp705Tyr)	SNV Germline	Chr2:63153540	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 15 Bardet-Biedl syndrome Inborn genetic diseases WDPCP-related disorder	Criteria Provided Conflicting Classifications	CA1682000	rs_200378703	4 SubmittersRCV000318207 RCV001413862 RCV002519984 RCV003932339
NM_015910.7(WDPCP):c.208+11T>C	SNV Germline	Chr2:63487436	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 15 Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA1682575	rs_201607698	2 SubmittersRCV000355662 RCV002057708
NM_015910.7(WDPCP):c.83A>T (p.Asp28Val)	SNV Germline	Chr2:63492933	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Bardet-Biedl syndrome 15 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA1682617	rs_144703991	9 SubmittersRCV000296966 RCV001094708 RCV001726132 RCV001702430
NM_001278293.3(ARL6):c.536-4T>C	SNV Germline	Chr3:97798020	Conflicting classifications of pathogenicity	Retinitis pigmentosa Bardet-Biedl syndrome 3 Bardet-Biedl syndrome 3 Retinitis pigmentosa 55 Condition: not provided ARL6-related disorder	Criteria Provided Conflicting Classifications	CA2506009	rs_201939836	6 SubmittersRCV000304079 RCV000354200 RCV000860576 RCV001528228 RCV003972467
NM_001278293.3(ARL6):c.*470G>A	SNV Germline	Chr3:97798519	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 3 Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA10616805	rs_184213166	1 SubmittersRCV000291926 RCV000381551
NM_176824.3(BBS7):c.1505A>G (p.His502Arg)	SNV Germline	Chr4:121835150	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Condition: not provided Bardet-Biedl syndrome 1 Bardet-Biedl syndrome 7 not specified	Criteria Provided Conflicting Classifications	CA3064214	rs_114718913	5 SubmittersRCV000330267 RCV000435007 RCV000709647 RCV001094938 RCV001700075
NM_176824.3(BBS7):c.1311C>T (p.Asn437=)	SNV Germline	Chr4:121839691	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Bardet-Biedl syndrome 7 Condition: not provided	Criteria Provided Conflicting Classifications	CA3064258	rs_199812109	3 SubmittersRCV000276316 RCV001094775 RCV006263894
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_176824.3(BBS7):c.651G>A (p.Ala217=)	SNV Germline	Chr4:121854771	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 7 Bardet-Biedl syndrome BBS7-related disorder	Criteria Provided Conflicting Classifications	CA3064442	rs_750691939	3 SubmittersRCV000289159 RCV002057914 RCV004742390
NM_001278293.3(ARL6):c.-27-1461A>T	SNV Germline	Chr3:97766620	Conflicting classifications of pathogenicity	Retinitis pigmentosa Bardet-Biedl syndrome 3	Criteria Provided Conflicting Classifications	CA10619735	rs_143739859	1 SubmittersRCV000287941 RCV000347529
NM_176824.3(BBS7):c.11T>C (p.Ile4Thr)	SNV Germline	Chr4:121870303	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 7 Bardet-Biedl syndrome BBS7-related disorder	Criteria Provided Conflicting Classifications	CA3064641	rs_542274936	3 SubmittersRCV000340451 RCV001453261 RCV003922526
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_198428.3(BBS9):c.2460C>T (p.Ser820=)	SNV Germline	Chr7:33534115	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Bardet-Biedl syndrome 9	Criteria Provided Conflicting Classifications	CA4214689	rs_142563811	2 SubmittersRCV000328343 RCV001095292
NM_198428.3(BBS9):c.2538C>T (p.Ile846=)	SNV Germline	Chr7:33604881	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Bardet-Biedl syndrome 9 BBS9-related disorder	Criteria Provided Conflicting Classifications	CA4214730	rs_376692708	3 SubmittersRCV000382940 RCV001095140 RCV003902399
NM_198428.3(BBS9):c.2593A>G (p.Thr865Ala)	SNV Germline	Chr7:33604936	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Bardet-Biedl syndrome 9 BBS9-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA4214740	rs_143963391	5 SubmittersRCV000288312 RCV001095141 RCV003401374 RCV004696023
NM_198428.3(BBS9):c.1553-11T>C	SNV Germline	Chr7:33357844	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 9 Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA4214427	rs_756802547	2 SubmittersRCV000397943 RCV002058664
NM_012210.4(TRIM32):c.27G>C (p.Leu9=)	SNV Germline	Chr9:116697769	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Sarcotubular myopathy Bardet-Biedl syndrome 11	Criteria Provided Conflicting Classifications	CA5210889	rs_201891227	2 SubmittersRCV000294133 RCV000388366 RCV001095315
NM_198428.3(BBS9):c.2070C>G (p.Ala690=)	SNV Germline	Chr7:33388099	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 9 Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA4214589	rs_200515072	2 SubmittersRCV000266889 RCV003633499
NM_198428.3(BBS9):c.1923C>A (p.Pro641=)	SNV Germline	Chr7:33383799	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 9 Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA10629111	rs_886062287	2 SubmittersRCV000361619 RCV002058665
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_012210.4(TRIM32):c.69C>T (p.Cys23=)	SNV Germline	Chr9:116697811	Conflicting classifications of pathogenicity	Sarcotubular myopathy Bardet-Biedl syndrome 11 Bardet-Biedl syndrome TRIM32-related disorder Sarcotubular myopathy Bardet-Biedl syndrome 11	Criteria Provided Conflicting Classifications	CA5210897	rs_575633576	4 SubmittersRCV000348870 RCV000375470 RCV001206079 RCV003932511 RCV006713419
NM_012210.4(TRIM32):c.409C>T (p.Pro137Ser)	SNV Germline	Chr9:116698151	Conflicting classifications of pathogenicity	Sarcotubular myopathy Bardet-Biedl syndrome Bardet-Biedl syndrome 11 Condition: not provided TRIM32-related disorder	Criteria Provided Conflicting Classifications	CA5210968	rs_200997003	5 SubmittersRCV000304291 RCV000398363 RCV001095348 RCV001558645 RCV003950293
NM_012210.4(TRIM32):c.1386G>A (p.Val462=)	SNV Germline	Chr9:116699128	Conflicting classifications of pathogenicity	Sarcotubular myopathy Bardet-Biedl syndrome Condition: not provided Bardet-Biedl syndrome 11 TRIM32-related disorder	Criteria Provided Conflicting Classifications	CA5211139	rs_762905941	4 SubmittersRCV000275720 RCV000370287 RCV000594977 RCV001095341 RCV003897812
NM_012210.4(TRIM32):c.*692C>G	SNV Germline	Chr9:116700396	Conflicting classifications of pathogenicity	Sarcotubular myopathy Bardet-Biedl syndrome 11 Condition: not provided	Criteria Provided Conflicting Classifications	CA10632142	rs_116058338	2 SubmittersRCV000266305 RCV000321454 RCV001850931
NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp)	SNV Germline	Chr12:88087887	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Condition: not provided Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Leber congenital amaurosis Kidney disorder Retinal dystrophy CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712028	rs_181121175	8 SubmittersRCV000291084 RCV000288370 RCV000345714 RCV000389733 RCV000400374 RCV000548918 RCV001085312 RCV001273074 RCV002294263 RCV003888722 RCV004537751
NM_025114.4(CEP290):c.1549T>C (p.Leu517=)	SNV Germline	Chr12:88118717	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Condition: not provided Meckel-Gruber syndrome Nephronophthisis Joubert syndrome	Criteria Provided Conflicting Classifications	CA6712526	rs_752942122	3 SubmittersRCV000299546 RCV000305920 RCV000335728 RCV000360538 RCV000398619 RCV000728042 RCV001079199
NM_025114.4(CEP290):c.-41C>T	SNV Germline	Chr12:88141913	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 not specified CEP290-related disorder	Criteria Provided Conflicting Classifications	CA10633653	rs_759820573	3 SubmittersRCV000281237 RCV000330322 RCV000338378 RCV000372028 RCV000387258 RCV000422198 RCV004537755
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.190C>G (p.Gln64Glu)	SNV Germline	Chr11:66514436	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 1 Bardet-Biedl syndrome BBS1-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6123287	rs_369843749	5 SubmittersRCV000268188 RCV001243569 RCV003409470 RCV005762000
NM_024649.5(BBS1):c.981C>T (p.Pro327=)	SNV Germline	Chr11:66523753	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Bardet-Biedl syndrome 1 not specified	Criteria Provided Conflicting Classifications	CA6123583	rs_142243482	4 SubmittersRCV000287545 RCV001093955 RCV001820904
NM_024649.5(BBS1):c.1110+15C>T	SNV Germline	Chr11:66523897	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 1 not specified Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA6123614	rs_371084544	3 SubmittersRCV000403380 RCV000780954 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_144596.4(TTC8):c.799-11C>T	SNV Germline	Chr14:88861211	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 8 Retinitis pigmentosa Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA7302601	rs_768485587	2 SubmittersRCV000294859 RCV000352180 RCV002061168
NM_144596.4(TTC8):c.1463C>T (p.Ala488Val)	SNV Germline	Chr14:88877325	Conflicting classifications of pathogenicity	Retinitis pigmentosa Bardet-Biedl syndrome Bardet-Biedl syndrome 8 not specified Retinal dystrophy TTC8-related disorder Retinitis pigmentosa 51 Bardet-Biedl syndrome 8	Criteria Provided Conflicting Classifications	CA7302781	rs_199649536	7 SubmittersRCV000300734 RCV000353073 RCV001094375 RCV001820932 RCV003888732 RCV003969880 RCV005010274
NM_033028.5(BBS4):c.37C>T (p.Pro13Ser)	SNV Germline	Chr15:72695189	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Bardet-Biedl syndrome 4	Criteria Provided Conflicting Classifications	CA7646456	rs_151164191	2 SubmittersRCV000400282 RCV001094446
NM_033028.5(BBS4):c.1107-7G>A	SNV Germline	Chr15:72735818	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 4 Condition: not provided Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA7646915	rs_766664389	3 SubmittersRCV000392838 RCV000415761 RCV001437125
NM_031885.5(BBS2):c.2088T>C (p.Thr696=)	SNV Germline	Chr16:56484839	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 2 Bardet-Biedl syndrome BBS2-related disorder	Criteria Provided Conflicting Classifications	CA10638048	rs_886052144	4 SubmittersRCV000275380 RCV001476802 RCV004732845
NM_031885.5(BBS2):c.1207C>T (p.Arg403Cys)	SNV Germline	Chr16:56501371	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome not specified BBS2-related disorder Condition: not provided Bardet-Biedl syndrome 2 Retinitis pigmentosa 74 Bardet-Biedl syndrome 2	Criteria Provided Conflicting Classifications	CA8065809	rs_766873519	7 SubmittersRCV001850699 RCV003488537 RCV004544576 RCV004694280 RCV005016707 RCV000665273
NM_031885.5(BBS2):c.837C>T (p.Val279=)	SNV Germline	Chr16:56502776	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 2 Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA8065903	rs_748579225	2 SubmittersRCV000363830 RCV001401813
NM_031885.5(BBS2):c.534+7G>C	SNV Germline	Chr16:56510852	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 2 Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA10638049	rs_886052149	3 SubmittersRCV000673826 RCV002056502
NM_024685.4(BBS10):c.460T>C (p.Leu154=)	SNV Germline	Chr12:76347525	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 10 Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA6694338	rs_754415474	2 SubmittersRCV000373375 RCV001424219
NM_024685.4(BBS10):c.393G>A (p.Gln131=)	SNV Germline	Chr12:76347592	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 10 Bardet-Biedl syndrome BBS10-related disorder	Criteria Provided Conflicting Classifications	CA6694359	rs_369066076	3 SubmittersRCV000281100 RCV002522254 RCV003897713
NM_025114.4(CEP290):c.7365A>G (p.Glu2455=)	SNV Germline	Chr12:88049259	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6711281	rs_765709669	3 SubmittersRCV000280658 RCV000286608 RCV000339178 RCV000378693 RCV000401265 RCV001410302 RCV004537747
NM_025114.4(CEP290):c.7209+7T>G	SNV Germline	Chr12:88050347	Conflicting classifications of pathogenicity	Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Condition: not provided Meckel-Gruber syndrome Nephronophthisis Joubert syndrome	Criteria Provided Conflicting Classifications	CA6711328	rs_745813087	3 SubmittersRCV000270876 RCV000283328 RCV000323734 RCV000322071 RCV000380635 RCV000729391 RCV001409432
NM_025114.4(CEP290):c.5764A>C (p.Ile1922Leu)	SNV Germline	Chr12:88071872	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Joubert syndrome 5 Meckel syndrome, type 4 not specified Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6711648	rs_746949236	4 SubmittersRCV000303118 RCV000339249 RCV000347524 RCV000391502 RCV000398921 RCV000603796 RCV001341200 RCV005532627
NM_025114.4(CEP290):c.4064G>A (p.Arg1355His)	SNV Germline	Chr12:88087910	Conflicting classifications of pathogenicity	Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Joubert syndrome 5 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Condition: not provided Leber congenital amaurosis Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14 CEP290-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10638682	rs_548558619	7 SubmittersRCV000303931 RCV000339034 RCV000361178 RCV000391345 RCV000398556 RCV001242966 RCV001590929 RCV001835779 RCV002487370 RCV004544542 RCV005540054
NM_025114.4(CEP290):c.3574-15T>A	SNV Germline	Chr12:88089502	Conflicting classifications of pathogenicity	Senior-Loken syndrome 6 Meckel syndrome, type 4 Leber congenital amaurosis 10 Joubert syndrome 5 Bardet-Biedl syndrome 14 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome	Criteria Provided Conflicting Classifications	CA6712114	rs_565414938	2 SubmittersRCV000267083 RCV000272452 RCV000321121 RCV000324529 RCV000378166 RCV001513375
NM_025114.4(CEP290):c.2174A>C (p.Glu725Ala)	SNV Germline	Chr12:88111737	Conflicting classifications of pathogenicity	Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Microcephaly Condition: not provided Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Retinal dystrophy CEP290-related disorder Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6712389	rs_375038986	10 SubmittersRCV000307295 RCV000310425 RCV000365084 RCV000371328 RCV000400672 RCV000861492 RCV001252733 RCV001562789 RCV002467728 RCV003888723 RCV004732842 RCV005003631 RCV005801772
NM_025114.4(CEP290):c.54G>A (p.Leu18=)	SNV Germline	Chr12:88141254	Conflicting classifications of pathogenicity	Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome	Criteria Provided Conflicting Classifications	CA10638700	rs_886049885	2 SubmittersRCV000295236 RCV000325527 RCV000352716 RCV000382505 RCV000386249 RCV001421212
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_017777.4(MKS1):c.491G>A (p.Arg164His)	SNV Germline	Chr17:58214765	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 13 Meckel syndrome, type 1 Condition: not provided Joubert syndrome Meckel-Gruber syndrome MKS1-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8669506	rs_200149256	7 SubmittersRCV000321171 RCV000384944 RCV000730592 RCV001086823 RCV004537814 RCV006713406
NM_144596.4(TTC8):c.1491C>T (p.Asp497=)	SNV Germline	Chr14:88877353	Conflicting classifications of pathogenicity	Retinitis pigmentosa Bardet-Biedl syndrome 8 Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA10641214	rs_886050878	2 SubmittersRCV000260562 RCV000332152 RCV002520928
NM_024685.4(BBS10):c.1974T>C (p.Tyr658=)	SNV Germline	Chr12:76346011	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 10 Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA6694067	rs_376613074	2 SubmittersRCV000305620 RCV001460767
NM_024685.4(BBS10):c.1158G>A (p.Leu386=)	SNV Germline	Chr12:76346827	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Condition: not provided Bardet-Biedl syndrome 10	Criteria Provided Conflicting Classifications	CA6694215	rs_138702315	5 SubmittersRCV000331467 RCV000588184 RCV001094233
NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr)	SNV Germline	Chr12:88050377	Conflicting classifications of pathogenicity	Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Leber congenital amaurosis Condition: not provided not specified Retinal dystrophy	Criteria Provided Conflicting Classifications	CA6711331	rs_189556433	7 SubmittersRCV000282628 RCV000295385 RCV000335271 RCV000374397 RCV000400288 RCV000465588 RCV001276480 RCV001545810 RCV001700050 RCV003888721
NM_025114.4(CEP290):c.5709+12A>G	SNV Germline	Chr12:88077210	Conflicting classifications of pathogenicity	Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome	Criteria Provided Conflicting Classifications	CA6711673	rs_371010287	2 SubmittersRCV000259439 RCV000300620 RCV000304102 RCV000355216 RCV000354211 RCV002056336
NM_025114.4(CEP290):c.4151G>A (p.Arg1384His)	SNV Germline	Chr12:88087823	Conflicting classifications of pathogenicity	Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14 not specified Leber congenital amaurosis Meckel-Gruber syndrome Nephronophthisis Joubert syndrome CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712022	rs_143152287	5 SubmittersRCV000268181 RCV000303676 RCV000316272 RCV000360821 RCV000354663 RCV000603267 RCV001273072 RCV001347081 RCV004732840
NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys)	SNV Germline	Chr12:88089271	Conflicting classifications of pathogenicity	Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Retinal dystrophy Leber congenital amaurosis Retinitis pigmentosa Condition: not provided Inborn genetic diseases CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712084	rs_139998038	11 SubmittersRCV000276434 RCV000289191 RCV000327895 RCV000333827 RCV000381363 RCV000557002 RCV001074452 RCV001273076 RCV001590930 RCV001555535 RCV002520840 RCV004544543
NM_033028.5(BBS4):c.1440G>A (p.Thr480=)	SNV Germline	Chr15:72736953	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Bardet-Biedl syndrome 4	Criteria Provided Conflicting Classifications	CA7647024	rs_148682268	2 SubmittersRCV000324428 RCV001094365
NM_025114.4(CEP290):c.2616G>A (p.Ser872=)	SNV Germline	Chr12:88106876	Conflicting classifications of pathogenicity	Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 not specified Meckel-Gruber syndrome Nephronophthisis Joubert syndrome CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6712296	rs_776360559	4 SubmittersRCV000282243 RCV000337086 RCV000350122 RCV000394763 RCV000399710 RCV000605884 RCV001245594 RCV004544544
NM_033028.5(BBS4):c.*611C>T	SNV Germline	Chr15:72738198	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA7647120	rs_41277724	2 SubmittersRCV000344998 RCV003391142
NM_025114.4(CEP290):c.1908A>T (p.Lys636Asn)	SNV Germline	Chr12:88115099	Conflicting classifications of pathogenicity	Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Leber congenital amaurosis Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA6712437	rs_199747962	5 SubmittersRCV000311480 RCV000315150 RCV000351341 RCV000357069 RCV000390499 RCV000860718 RCV001833458 RCV002467729 RCV002461069
NM_025114.4(CEP290):c.-33G>T	SNV Germline	Chr12:88141905	Conflicting classifications of pathogenicity	Meckel syndrome, type 4 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Joubert syndrome 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA10642542	rs_139415563	2 SubmittersRCV000266217 RCV000305052 RCV000309585 RCV000357550 RCV000402356 RCV001642965
NM_024685.4(BBS10):c.1028G>A (p.Arg343Gln)	SNV Germline	Chr12:76346957	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 10 Condition: not provided Bardet-Biedl syndrome Inborn genetic diseases BBS10-related disorder	Criteria Provided Conflicting Classifications	CA6694243	rs_201335653	6 SubmittersRCV000388272 RCV000591216 RCV001859859 RCV003362753 RCV003422256
NM_024685.4(BBS10):c.198-10T>C	SNV Germline	Chr12:76347797	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Bardet-Biedl syndrome 10	Criteria Provided Conflicting Classifications	CA6694392	rs_376497190	2 SubmittersRCV000391618 RCV001094136
NM_025114.4(CEP290):c.4293G>A (p.Ala1431=)	SNV Germline	Chr12:88086400	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Leber congenital amaurosis 10 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6711985	rs_377614744	3 SubmittersRCV000271533 RCV000306869 RCV000328955 RCV000363839 RCV000376492 RCV000869776 RCV004537749
NM_025114.4(CEP290):c.1623+10G>T	SNV Germline	Chr12:88118633	Conflicting classifications of pathogenicity	Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Meckel syndrome, type 4 Joubert syndrome 5 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome	Criteria Provided Conflicting Classifications	CA6712516	rs_377529198	2 SubmittersRCV000272744 RCV000287480 RCV000327713 RCV000376587 RCV000382304 RCV000981128
NM_025114.4(CEP290):c.503G>A (p.Arg168His)	SNV Germline	Chr12:88130558	Conflicting classifications of pathogenicity	Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Retinitis pigmentosa Leber congenital amaurosis not specified Retinal dystrophy CEP290-related disorder CEP290-related ciliopathy	Criteria Provided Conflicting Classifications	CA6712768	rs_200063017	8 SubmittersRCV000263394 RCV000285505 RCV000316286 RCV000355828 RCV000373256 RCV000637006 RCV000787814 RCV001275046 RCV003330639 RCV003888725 RCV004537752 RCV005355635
NM_170784.3(MKKS):c.1269C>T (p.His423=)	SNV Germline	Chr20:10407619	Conflicting classifications of pathogenicity	McKusick-Kaufman syndrome Bardet-Biedl syndrome 6 Bardet-Biedl syndrome McKusick-Kaufman syndrome MKKS-related disorder	Criteria Provided Conflicting Classifications	CA9763520	rs_144313303	3 SubmittersRCV000329365 RCV000376996 RCV002519997 RCV004735490
NM_170784.3(MKKS):c.-306A>G	SNV Germline	Chr20:10413820	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 6 McKusick-Kaufman syndrome	Criteria Provided Conflicting Classifications	CA10643473	rs_3748466	1 SubmittersRCV000280947 RCV000338067
NM_031885.5(BBS2):c.1910+9T>G	SNV Germline	Chr16:56496958	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 2 Bardet-Biedl syndrome BBS2-related disorder	Criteria Provided Conflicting Classifications	CA8065592	rs_751604858	4 SubmittersRCV000671045 RCV002056501 RCV004537806
NM_031885.5(BBS2):c.327G>A (p.Ser109=)	SNV Germline	Chr16:56514471	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 2 Bardet-Biedl syndrome BBS2-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA8066082	rs_770497817	7 SubmittersRCV000667692 RCV001239194 RCV004732847 RCV006731922
NM_144596.4(TTC8):c.*83A>G	SNV Germline	Chr14:88877493	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 8 Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA10645222	rs_147325843	1 SubmittersRCV000273618 RCV000389074
NM_017777.4(MKS1):c.102A>G (p.Thr34=)	SNV Germline	Chr17:58218708	Conflicting classifications of pathogenicity	Meckel syndrome, type 1 Bardet-Biedl syndrome 13 Meckel-Gruber syndrome Joubert syndrome MKS1-related disorder	Criteria Provided Conflicting Classifications	CA10646202	rs_886053171	3 SubmittersRCV000311622 RCV000337010 RCV001441690 RCV004537815
NM_017777.4(MKS1):c.80+14C>G	SNV Germline	Chr17:58219137	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 13 Meckel syndrome, type 1 Joubert syndrome 28 Meckel syndrome, type 1 Bardet-Biedl syndrome 13 Meckel-Gruber syndrome Joubert syndrome MKS1-related disorder	Criteria Provided Conflicting Classifications	CA10646204	rs_761061379	4 SubmittersRCV000297157 RCV000407075 RCV000670260 RCV002522992 RCV004732850
NM_144596.4(TTC8):c.5G>A (p.Ser2Asn)	SNV Germline	Chr14:88824712	Conflicting classifications of pathogenicity	Retinitis pigmentosa Bardet-Biedl syndrome 8 Bardet-Biedl syndrome Retinal dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7302304	rs_199571677	4 SubmittersRCV000304181 RCV000360976 RCV001859883 RCV003888731 RCV004678676
NM_144596.4(TTC8):c.330-15T>A	SNV Germline	Chr14:88841022	Conflicting classifications of pathogenicity	Retinitis pigmentosa Bardet-Biedl syndrome 8 Bardet-Biedl syndrome Gastric cancer Malignant tumor of esophagus	Criteria Provided Conflicting Classifications	CA7302443	rs_187484893	3 SubmittersRCV000263140 RCV000373889 RCV001519327 RCV005893310 RCV005893309
NM_033028.5(BBS4):c.1215C>G (p.Leu405=)	SNV Germline	Chr15:72735933	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Bardet-Biedl syndrome 4	Criteria Provided Conflicting Classifications	CA7646949	rs_3759869	2 SubmittersRCV000309670 RCV001094310
NM_031885.5(BBS2):c.1894C>T (p.Arg632Cys)	SNV Germline	Chr16:56496983	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Bardet-Biedl syndrome 2 Retinitis pigmentosa 74 Bardet-Biedl syndrome 2 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA8065597	rs_200021475	6 SubmittersRCV000326249 RCV001094468 RCV002487413 RCV004816560
NM_031885.5(BBS2):c.1797+12C>T	SNV Germline	Chr16:56497731	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 2 Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA8065624	rs_370960689	2 SubmittersRCV000267494 RCV001445202
NM_031885.5(BBS2):c.744T>C (p.His248=)	SNV Germline	Chr16:56506010	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Bardet-Biedl syndrome 2 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA8065934	rs_186893286	4 SubmittersRCV000360271 RCV001094338 RCV003888749
NM_031885.5(BBS2):c.111G>A (p.Thr37=)	SNV Germline	Chr16:56519752	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Bardet-Biedl syndrome 2 BBS2-related disorder	Criteria Provided Conflicting Classifications	CA8066140	rs_191867233	3 SubmittersRCV000295686 RCV001094471 RCV004732848
NM_031885.5(BBS2):c.1527+12G>A	SNV Germline	Chr16:56499766	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 2 Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA8065715	rs_376715521	2 SubmittersRCV000282870 RCV001850698
NM_031885.5(BBS2):c.1104C>T (p.Asn368=)	SNV Germline	Chr16:56501474	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Bardet-Biedl syndrome 2 Condition: not provided BBS2-related disorder	Criteria Provided Conflicting Classifications	CA8065828	rs_141731677	5 SubmittersRCV000395324 RCV001094336 RCV004597779 RCV004732846
NM_031885.5(BBS2):c.78G>A (p.Gly26=)	SNV Germline	Chr16:56519785	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 2 Bardet-Biedl syndrome	Criteria Provided Conflicting Classifications	CA8066148	rs_759629466	2 SubmittersRCV000386685 RCV002061201
NM_017777.4(MKS1):c.1322C>T (p.Thr441Met)	SNV Germline	Chr17:58207170	Conflicting classifications of pathogenicity	Meckel syndrome, type 1 Bardet-Biedl syndrome 13 Condition: not provided Meckel-Gruber syndrome Joubert syndrome Inborn genetic diseases MKS1-related disorder	Criteria Provided Conflicting Classifications	CA8669167	rs_367625961	6 SubmittersRCV000291999 RCV000346858 RCV000592032 RCV001850733 RCV002524429 RCV004529556
NM_017777.4(MKS1):c.644+8G>T	SNV Germline	Chr17:58214251	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 13 Meckel syndrome, type 1 Meckel-Gruber syndrome Joubert syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA8669457	rs_370117125	8 SubmittersRCV000266041 RCV000379306 RCV000861689 RCV001699454
NM_017777.4(MKS1):c.*322G>T	SNV Germline	Chr17:58205757	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 13 Meckel syndrome, type 1 Condition: not provided Ovarian serous cystadenocarcinoma Cervical cancer	Criteria Provided Conflicting Classifications	CA10650548	rs_185405908	4 SubmittersRCV000308647 RCV000392532 RCV003311756 RCV005894652 RCV005894651
NM_017777.4(MKS1):c.813C>T (p.His271=)	SNV Germline	Chr17:58213027	Conflicting classifications of pathogenicity	Meckel syndrome, type 1 Condition: not provided Meckel-Gruber syndrome Joubert syndrome Bardet-Biedl syndrome 13 MKS1-related disorder	Criteria Provided Conflicting Classifications	CA8669402	rs_201961765	4 SubmittersRCV000262761 RCV000596764 RCV001088004 RCV001126361 RCV004537813
NM_017777.4(MKS1):c.729G>T (p.Thr243=)	SNV Germline	Chr17:58213785	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 13 Meckel syndrome, type 1 Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Conflicting Classifications	CA8669437	rs_373491923	2 SubmittersRCV000260241 RCV000324797 RCV001399709
NM_017777.4(MKS1):c.27C>T (p.Asp9=)	SNV Germline	Chr17:58219204	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 13 Meckel syndrome, type 1 Condition: not provided Meckel-Gruber syndrome Joubert syndrome	Criteria Provided Conflicting Classifications	CA8669667	rs_369488349	9 SubmittersRCV000266789 RCV000361285 RCV000728548 RCV001086578
NM_017777.3(MKS1):c.-64T>C	SNV Germline	Chr17:58219294	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 13 Meckel syndrome, type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA10650558	rs_372127517	2 SubmittersRCV000272730 RCV000327245 RCV001590960
NM_170784.3(MKKS):c.874C>T (p.Leu292=)	SNV Germline	Chr20:10412641	Conflicting classifications of pathogenicity	McKusick-Kaufman syndrome Bardet-Biedl syndrome 6 Bardet-Biedl syndrome McKusick-Kaufman syndrome MKKS-related disorder	Criteria Provided Conflicting Classifications	CA9763609	rs_758645426	3 SubmittersRCV000284972 RCV000341367 RCV002057725 RCV004544630
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	6 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	4 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/Likely pathogenic	Bardet-Biedl syndrome 1 Retinitis pigmentosa Retinal dystrophy Condition: not provided Bardet-Biedl syndrome BBS1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA6123351	rs_376894444	19 SubmittersRCV000411434 RCV000504813 RCV001074216 RCV001092069 RCV001387773 RCV003922662
NM_024649.5(BBS1):c.480-1G>C	SNV Germline	Chr11:66515692	Pathogenic	Bardet-Biedl syndrome 1 Bardet-Biedl syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16041522	rs_1057516933	3 SubmittersRCV000409654 RCV006462575
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	7 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	11 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_024685.4(BBS10):c.1677C>G (p.Tyr559Ter)	SNV Germline	Chr12:76346308	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 10 Bardet-Biedl syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16041577	rs_375413604	5 SubmittersRCV000409664 RCV001850959
NM_024685.4(BBS10):c.1391C>G (p.Ser464Ter)	SNV Germline	Chr12:76346594	Pathogenic	Bardet-Biedl syndrome 10 Bardet-Biedl syndrome	Criteria Provided Multiple Submitters No Conflicts	CA6694180	rs_759682922	6 SubmittersRCV000409848 RCV001041782
NM_024685.4(BBS10):c.574C>T (p.Gln192Ter)	SNV Germline	Chr12:76347411	Pathogenic	Bardet-Biedl syndrome 10 Bardet-Biedl syndrome	Criteria Provided Single Submitter	CA16041585	rs_1057517184	2 SubmittersRCV000411485 RCV002524624
NM_024685.4(BBS10):c.378G>A (p.Trp126Ter)	SNV Unknown	Chr12:76347607	Likely pathogenic	Bardet-Biedl syndrome 10	No Assertion Criteria Provided	CA16041587	rs_1057516753	1 SubmittersRCV000409088
NM_024685.4(BBS10):c.361A>T (p.Lys121Ter)	SNV Unknown	Chr12:76347624	Likely pathogenic	Bardet-Biedl syndrome 10	No Assertion Criteria Provided	CA16041588	rs_1057516240	1 SubmittersRCV000410231
NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter)	SNV Germline	Chr16:56501014	Pathogenic	Bardet-Biedl syndrome 2 Bardet-Biedl syndrome Bardet-Biedl syndrome 2 Retinitis pigmentosa 74 Condition: not provided Retinal dystrophy BBS2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA8065780	rs_147030232	13 SubmittersRCV000411465 RCV001069542 RCV000762966 RCV001571149 RCV003889878 RCV004530497
NM_025114.4(CEP290):c.451C>T (p.Arg151Ter)	SNV Germline	Chr12:88131209	Pathogenic/Likely pathogenic	Condition: not provided Joubert syndrome Meckel-Gruber syndrome Nephronophthisis not specified Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Inborn genetic diseases Leber congenital amaurosis Retinal disorder	Criteria Provided Multiple Submitters No Conflicts	CA6712782	rs_757641323	11 SubmittersRCV000414162 RCV000552078 RCV000999862 RCV002470852 RCV003463818 RCV005010313 RCV005540072 RCV006640617 RCV006273017
NM_025114.4(CEP290):c.3104-2A>G	SNV Germline	Chr12:88093977	Pathogenic/Likely pathogenic	6 conditions Bardet-Biedl syndrome 14 Joubert syndrome Meckel-Gruber syndrome Nephronophthisis	Criteria Provided Multiple Submitters No Conflicts	CA6712210	rs_773386777	3 SubmittersRCV000415418 RCV003470370 RCV003766166
NM_025114.4(CEP290):c.2941C>T (p.Gln981Ter)	SNV Germline	Chr12:88102888	Pathogenic/Likely pathogenic	Molar tooth sign on MRI Central hypotonia Nystagmus Blindness Joubert syndrome 5 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA16043473	rs_1057518822	5 SubmittersRCV000414899 RCV000415004 RCV001199375 RCV003766165 RCV003470364 RCV005004147 RCV006640620
NM_176824.3(BBS7):c.1891-2A>C	SNV Germline	Chr4:121828271	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 7 Bardet-Biedl syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16044049	rs_1057519027	3 SubmittersRCV000416357 RCV003633501
NM_025114.4(CEP290):c.523C>A (p.Gln175Lys)	SNV Germline	Chr12:88130414	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome 5 Meckel syndrome, type 4 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Leber congenital amaurosis Intellectual disability CEP290-related disorder Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA6712745	rs_202159966	9 SubmittersRCV000428640 RCV001109866 RCV001109867 RCV000809280 RCV001109868 RCV001110658 RCV001109869 RCV001275045 RCV001252443 RCV004530521 RCV005010318 RCV004816652
NM_025114.4(CEP290):c.6629G>A (p.Arg2210His)	SNV Germline	Chr12:88059914	Conflicting classifications of pathogenicity	Condition: not provided Senior-Loken syndrome 6 Joubert syndrome 5 Meckel syndrome, type 4 Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Leber congenital amaurosis Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Retinal dystrophy	Criteria Provided Conflicting Classifications	CA6711461	rs_371833544	6 SubmittersRCV000417476 RCV000765111 RCV001276484 RCV001245037 RCV003889881
NM_015662.3(IFT172):c.1525-6C>G	SNV Germline	Chr2:27471101	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa 71 Short-rib thoracic dysplasia 10 with or without polydactyly Condition: not provided Retinitis pigmentosa 71 Short-rib thoracic dysplasia 10 with or without polydactyly Bardet-Biedl syndrome 20 Ovarian serous cystadenocarcinoma Acute myeloid leukemia Cervical cancer Malignant tumor of esophagus Familial cancer of breast	Criteria Provided Conflicting Classifications	CA1580594	rs_201231401	6 SubmittersRCV000433325 RCV000877807 RCV001727724 RCV002506060 RCV005898065 RCV005898062 RCV005898064 RCV005898063 RCV005898061
NM_198428.3(BBS9):c.436G>A (p.Val146Ile)	SNV Germline	Chr7:33177585	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome Bardet-Biedl syndrome 9 Inborn genetic diseases BBS9-related disorder	Criteria Provided Conflicting Classifications	CA4213983	rs_372412756	5 SubmittersRCV000432847 RCV001861591 RCV002481321 RCV004965455 RCV003401426
NM_198428.3(BBS9):c.2258A>T (p.Glu753Val)	SNV Germline	Chr7:33505605	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome Bardet-Biedl syndrome 9 Inborn genetic diseases BBS9-related disorder Retinal dystrophy Sarcoma Clear cell carcinoma of kidney Ovarian serous cystadenocarcinoma Adrenocortical carcinoma, hereditary Lung cancer Familial cancer of breast	Criteria Provided Conflicting Classifications	CA4214639	rs_61764068	9 SubmittersRCV000417647 RCV001083313 RCV001165275 RCV002521642 RCV003912685 RCV004816660 RCV005896668 RCV005896667 RCV005896669 RCV005896666 RCV005896670 RCV005896665
NM_024649.5(BBS1):c.1147C>T (p.Arg383Trp)	SNV Germline	Chr11:66526159	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome Bardet-Biedl syndrome 1 BBS1-related disorder	Criteria Provided Conflicting Classifications	CA6123638	rs_143495423	6 SubmittersRCV000442981 RCV001309601 RCV001274037 RCV003392248
NM_025114.4(CEP290):c.1360-4T>G	SNV Germline	Chr12:88120280	Conflicting classifications of pathogenicity	not specified Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Leber congenital amaurosis 10 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Joubert syndrome 5 Meckel syndrome, type 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA6712563	rs_200328638	6 SubmittersRCV000441785 RCV000474649 RCV001112008 RCV001112451 RCV001112007 RCV001112009 RCV001112452 RCV002510886
NM_025114.4(CEP290):c.1729C>T (p.Leu577=)	SNV Germline	Chr12:88117128	Conflicting classifications of pathogenicity	Condition: not provided Leber congenital amaurosis 10 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Joubert syndrome 5 Meckel-Gruber syndrome Nephronophthisis Joubert syndrome	Criteria Provided Conflicting Classifications	CA6712482	rs_201295052	8 SubmittersRCV000733432 RCV001111899 RCV001109606 RCV001109607 RCV001109608 RCV001111898 RCV001084047
NM_033028.5(BBS4):c.883C>T (p.Arg295Ter)	SNV Germline	Chr15:72731573	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 4 Condition: not provided Bardet-Biedl syndrome BBS4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA7646830	rs_775710800	8 SubmittersRCV000449577 RCV000995387 RCV001199438 RCV004748762
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_152384.3(BBS5):c.751A>G (p.Asn251Asp)	SNV Germline	Chr2:169499555	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Bardet-Biedl syndrome 5 Condition: not provided not specified BBS5-related disorder Intellectual disability	Criteria Provided Conflicting Classifications	CA1956310	rs_143113298	6 SubmittersRCV000463506 RCV000765535 RCV001090461 RCV001821295 RCV003972762 RCV005625617
NM_198428.3(BBS9):c.263+1G>A	SNV Germline	Chr7:33152852	Pathogenic	Bardet-Biedl syndrome Bardet-Biedl syndrome 9 BBS9-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA16612093	rs_137962929	5 SubmittersRCV000477579 RCV002468580 RCV003912812
NM_024649.5(BBS1):c.1240G>T (p.Glu414Ter)	SNV Germline	Chr11:66526708	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome Bardet-Biedl syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16613438	rs_1060503690	3 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 Inborn genetic diseases Retinal dystrophy BBS1-related disorder	Criteria Provided Conflicting Classifications	CA6123344	rs_759253107	5 SubmittersRCV000472989 RCV001828486 RCV002525625 RCV003889901 RCV004742430
NM_024685.4(BBS10):c.440A>G (p.Gln147Arg)	SNV Germline	Chr12:76347545	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Bardet-Biedl syndrome 10 BBS10-related disorder BBS10-related ciliopathy	Criteria Provided Conflicting Classifications	CA6694345	rs_140585012	6 SubmittersRCV000473968 RCV001109510 RCV003925312 RCV005365309
NM_033028.5(BBS4):c.513T>A (p.Tyr171Ter)	SNV Germline	Chr15:72724581	Pathogenic	Bardet-Biedl syndrome	Criteria Provided Single Submitter	CA16614490	rs_367882912	1 SubmittersRCV000469982
NM_033028.5(BBS4):c.638T>A (p.Leu213Ter)	SNV Germline	Chr15:72727990	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome Bardet-Biedl syndrome 4	Criteria Provided Multiple Submitters No Conflicts	CA16614491	rs_1060503692	3 SubmittersRCV000471858 RCV003463973
NM_033028.5(BBS4):c.1179C>T (p.Ala393=)	SNV Germline	Chr15:72735897	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Bardet-Biedl syndrome 4 BBS4-related disorder	Criteria Provided Conflicting Classifications	CA7646937	rs_780560947	3 SubmittersRCV000464128 RCV001117119 RCV003900006
NM_033028.5(BBS4):c.1140G>A (p.Val380=)	SNV Germline	Chr15:72735858	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome BBS4-related disorder	Criteria Provided Conflicting Classifications	CA7646926	rs_141511580	3 SubmittersRCV000593840 RCV001087745 RCV003915326
NM_033028.5(BBS4):c.830G>T (p.Gly277Val)	SNV Germline	Chr15:72731423	Likely pathogenic	Bardet-Biedl syndrome	Criteria Provided Single Submitter	CA7646802	rs_749017489	1 SubmittersRCV000462368
NM_177965.4(CFAP418):c.304A>T (p.Lys102Ter)	SNV Germline	Chr8:95260472	Pathogenic	Bardet-biedl syndrome 21	No Assertion Criteria Provided	CA4815195	rs_766087213	1 SubmittersRCV000477690
NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter)	SNV Germline	Chr12:76346308	Pathogenic	Bardet-Biedl syndrome 10 Bardet-Biedl syndrome Retinal dystrophy Condition: not provided BBS10-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA6694126	rs_375413604	12 SubmittersRCV000477827 RCV000818478 RCV001075280 RCV001528233 RCV003960121
NM_025114.4(CEP290):c.4705-1G>T	SNV Germline	Chr12:88083955	Pathogenic/Likely pathogenic	Condition: not provided Meckel-Gruber syndrome Nephronophthisis Joubert syndrome Joubert syndrome 5 Bardet-Biedl syndrome 14 Leber congenital amaurosis CEP290-related disorder Leber congenital amaurosis 10	Criteria Provided Multiple Submitters No Conflicts	CA6711875	rs_777464278	7 SubmittersRCV000479832 RCV001060437 RCV001335139 RCV003470556 RCV003324527 RCV004527588 RCV005869488
NM_025114.4(CEP290):c.1670G>A (p.Arg557His)	SNV Germline	Chr12:88118524	Conflicting classifications of pathogenicity	not specified Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Condition: not provided Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Joubert syndrome 5 Senior-Loken syndrome 6 Meckel syndrome, type 4 Leber congenital amaurosis Leber congenital amaurosis 10 Bardet-Biedl syndrome 14 Senior-Loken syndrome 6 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 CEP290-related disorder Retinal dystrophy	Criteria Provided Conflicting Classifications	CA6712493	rs_184018899	11 SubmittersRCV000485164 RCV000554377 RCV000723705 RCV000763867 RCV001111903 RCV001111904 RCV001111901 RCV001275035 RCV001111900 RCV001111902 RCV003227766 RCV004529604 RCV004816684
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_025114.4(CEP290):c.1910-11T>G	SNV Germline	Chr12:88114573	Pathogenic	Leber congenital amaurosis Bardet-Biedl syndrome 14 Meckel syndrome, type 4	Criteria Provided Multiple Submitters No Conflicts	CA658656314	rs_1555220638	3 SubmittersRCV000515679 RCV003470596 RCV004800425
NM_025114.4(CEP290):c.4813-2A>G	SNV Germline	Chr12:88083232	Pathogenic/Likely pathogenic	Condition: not provided Joubert syndrome Meckel-Gruber syndrome Nephronophthisis Retinal dystrophy Leber congenital amaurosis Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 Joubert syndrome 5 CEP290-related disorder Bardet-Biedl syndrome 14 Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA6711850	rs_369523378	15 SubmittersRCV000498458 RCV000687629 RCV001075395 RCV001271569 RCV001535842 RCV002248731 RCV002222534 RCV003464071 RCV005899811
NM_170784.3(MKKS):c.862G>A (p.Val288Ile)	SNV Germline	Chr20:10412653	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome McKusick-Kaufman syndrome Bardet-Biedl syndrome 6 McKusick-Kaufman syndrome MKKS-related disorder	Criteria Provided Conflicting Classifications	CA9763613	rs_113032343	5 SubmittersRCV000498463 RCV001857008 RCV005027576 RCV004735572
NM_006642.5(SDCCAG8):c.778C>G (p.Leu260Val)	SNV Germline	Chr1:243308026	Conflicting classifications of pathogenicity	not specified Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 Senior-Loken syndrome 7 Bardet-Biedl syndrome 16 Condition: not provided Kidney disorder SDCCAG8-related disorder Retinal dystrophy	Criteria Provided Conflicting Classifications	CA1483446	rs_201869920	9 SubmittersRCV000504492 RCV000704873 RCV001095982 RCV001095981 RCV001700134 RCV002294338 RCV004535620 RCV004817723
NM_001378454.1(ALMS1):c.10882C>T (p.Arg3628Ter)	SNV Germline	Chr2:73572759	Pathogenic/Likely pathogenic	Alstrom syndrome Condition: not provided Bardet-Biedl syndrome Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA347286010	rs_1473611414	7 SubmittersRCV000503366 RCV001576245 RCV003222006 RCV004817720
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_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 Bardet-Biedl syndrome 1 BBS1-related disorder	Criteria Provided Conflicting Classifications	CA6123669	rs_141528309	7 SubmittersRCV000500220 RCV000726690 RCV001086879 RCV001274039 RCV003979884
NM_024685.4(BBS10):c.1495G>T (p.Glu499Ter)	SNV Germline	Chr12:76346490	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 10 Bardet-Biedl syndrome	Criteria Provided Multiple Submitters No Conflicts	CA239331757	rs_898539189	6 SubmittersRCV000503944 RCV001192908
NM_144596.4(TTC8):c.1253A>G (p.Gln418Arg)	SNV Germline	Chr14:88872358	Conflicting classifications of pathogenicity	not specified Condition: not provided Bardet-Biedl syndrome Retinitis pigmentosa Bardet-Biedl syndrome 8 TTC8-related disorder	Criteria Provided Conflicting Classifications	CA7302697	rs_142938748	9 SubmittersRCV000502817 RCV000514165 RCV001085151 RCV001117716 RCV001117717 RCV003915396
NM_152384.3(BBS5):c.412C>T (p.Arg138Cys)	SNV Germline	Chr2:169492899	Likely pathogenic	Cone dystrophy BBS5-related disorder Bardet-Biedl syndrome	Criteria Provided Multiple Submitters No Conflicts	CA349164655	rs_1238632042	3 SubmittersRCV000504629 RCV003403181 RCV006463174
NM_001278293.3(ARL6):c.281T>C (p.Ile94Thr)	SNV Germline	Chr3:97784981	Pathogenic/Likely pathogenic	Retinitis pigmentosa Bardet-Biedl syndrome 3 Retinitis pigmentosa 55 ARL6-related disorder Bardet-Biedl syndrome 1 Bardet-Biedl syndrome 3 Retinitis pigmentosa 55	Criteria Provided Multiple Submitters No Conflicts	CA2505920	rs_771054395	4 SubmittersRCV000504758 RCV001376735 RCV004745430 RCV005027583
NM_024685.4(BBS10):c.590A>G (p.Tyr197Cys)	SNV Germline	Chr12:76347395	Pathogenic/Likely pathogenic	Retinitis pigmentosa Bardet-Biedl syndrome Bardet-Biedl syndrome 10	Criteria Provided Multiple Submitters No Conflicts	CA6694316	rs_756632517	5 SubmittersRCV000504949 RCV001324945 RCV002490846
NM_025114.4(CEP290):c.1066-1G>A	SNV Germline	Chr12:88125370	Pathogenic	not specified Joubert syndrome Nephronophthisis Meckel-Gruber syndrome Leber congenital amaurosis 10 Joubert syndrome 5 Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 CEP290-related disorder Retinal disorder Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA241154824	rs_965522059	8 SubmittersRCV000506801 RCV000636990 RCV000763318 RCV003464093 RCV004732914 RCV006707683 RCV006640714
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 Bardet-Biedl syndrome	Criteria Provided Multiple Submitters No Conflicts	CA381461967	rs_1555048487	4 SubmittersRCV000513191 RCV000674877 RCV001199648 RCV006463194
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_033028.5(BBS4):c.2T>C (p.Met1Thr)	SNV Germline	Chr15:72686229	Pathogenic/Likely pathogenic	Condition: not provided Bardet-Biedl syndrome Bardet-Biedl syndrome 4	Criteria Provided Multiple Submitters No Conflicts	CA393074972	rs_1302879683	3 SubmittersRCV000514162 RCV002524988 RCV005010463
NM_015662.3(IFT172):c.4666G>A (p.Val1556Met)	SNV Germline	Chr2:27446349	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa 71 Short-rib thoracic dysplasia 10 with or without polydactyly Bardet-Biedl syndrome 20 Retinitis pigmentosa 71 Short-rib thoracic dysplasia 10 with or without polydactyly IFT172-related disorder Short-rib thoracic dysplasia 10 with or without polydactyly	Criteria Provided Conflicting Classifications	CA1579519	rs_141098495	6 SubmittersRCV000520966 RCV001239376 RCV002476063 RCV004553147 RCV003483653
NM_015662.3(IFT172):c.4564G>A (p.Glu1522Lys)	SNV Germline	Chr2:27447610	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa 71 Short-rib thoracic dysplasia 10 with or without polydactyly not specified IFT172-related disorder Bardet-Biedl syndrome 20 Retinitis pigmentosa 71 Short-rib thoracic dysplasia 10 with or without polydactyly	Criteria Provided Conflicting Classifications	CA1579552	rs_746340772	5 SubmittersRCV000521349 RCV001302324 RCV001821461 RCV004553146 RCV005027612
NM_015662.3(IFT172):c.3073C>G (p.Pro1025Ala)	SNV Germline	Chr2:27457879	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa 71 Short-rib thoracic dysplasia 10 with or without polydactyly IFT172-related disorder Bardet-Biedl syndrome 20 Retinitis pigmentosa 71 Short-rib thoracic dysplasia 10 with or without polydactyly	Criteria Provided Conflicting Classifications	CA1580090	rs_61747068	6 SubmittersRCV000523121 RCV001089402 RCV004553148 RCV002467857
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter)	SNV Germline	Chr12:88114557	Pathogenic/Likely pathogenic	Condition: not provided Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA385977034	rs_1555220625	7 SubmittersRCV000519595 RCV001058827 RCV002497033 RCV003155226 RCV003470660 RCV006640735
NM_025114.4(CEP290):c.1190-2A>G	SNV Germline	Chr12:88121168	Pathogenic/Likely pathogenic	Condition: not provided Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Bardet-Biedl syndrome 14 Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA6712608	rs_200818935	4 SubmittersRCV000523813 RCV001378303 RCV003470653 RCV006640732
NM_006642.5(SDCCAG8):c.2067G>A (p.Leu689=)	SNV Germline	Chr1:243489095	Conflicting classifications of pathogenicity	Senior-Loken syndrome 7 Bardet-Biedl syndrome 16 Senior-Loken syndrome 7 Bardet-Biedl syndrome 16	Criteria Provided Conflicting Classifications	CA1483825	rs_191821211	2 SubmittersRCV000554480 RCV001099654 RCV001097855
NM_176824.3(BBS7):c.1890+6T>C	SNV Germline	Chr4:121828396	Pathogenic	Bardet-Biedl syndrome	Criteria Provided Single Submitter	CA658657401	rs_1553930514	1 SubmittersRCV000529910
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_176824.3(BBS7):c.171G>A (p.Val57=)	SNV Germline	Chr4:121861674	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Bardet-Biedl syndrome 7 BBS7-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA3064566	rs_144525608	4 SubmittersRCV000553780 RCV001147657 RCV003979970 RCV006447336
NM_024649.5(BBS1):c.1277A>G (p.Asn426Ser)	SNV Germline	Chr11:66526745	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome Bardet-Biedl syndrome 1 Retinal dystrophy Inborn genetic diseases BBS1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA6123687	rs_755782127	8 SubmittersRCV000551663 RCV001834775 RCV003889922 RCV002528349 RCV004742490 RCV006275004
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_025114.4(CEP290):c.6358-1G>A	SNV Germline	Chr12:88060995	Likely pathogenic	Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Leber congenital amaurosis Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Bardet-Biedl syndrome 14	Criteria Provided Multiple Submitters No Conflicts	CA6711506	rs_766670248	4 SubmittersRCV000555880 RCV001276485 RCV002491001 RCV003470742
NM_025114.4(CEP290):c.384T>C (p.Asp128=)	SNV Germline	Chr12:88136700	Conflicting classifications of pathogenicity	Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Bardet-Biedl syndrome 14 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis 10 Senior-Loken syndrome 6 not specified Retinal dystrophy	Criteria Provided Conflicting Classifications	CA6712816	rs_76267039	4 SubmittersRCV000550067 RCV001110659 RCV001110660 RCV001112627 RCV001112629 RCV001112628 RCV001821528 RCV003889921
NM_025114.4(CEP290):c.6392A>G (p.Glu2131Gly)	SNV Germline	Chr12:88060960	Conflicting classifications of pathogenicity	Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5 Leber congenital amaurosis Condition: not provided CEP290-related disorder	Criteria Provided Conflicting Classifications	CA6711500	rs_184323010	5 SubmittersRCV000529924 RCV000765112 RCV001272013 RCV002469187 RCV004732937
NM_025114.4(CEP290):c.1199C>T (p.Thr400Ile)	SNV Germline	Chr12:88121157	Conflicting classifications of pathogenicity	Meckel-Gruber syndrome Joubert syndrome Nephronophthisis Condition: not provided CEP290-related disorder Senior-Loken syndrome 6 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Joubert syndrome 5	Criteria Provided Conflicting Classifications	CA6712602	rs_773578133	4 SubmittersRCV000526103 RCV000839270 RCV004537946 RCV005010500
NM_025114.4(CEP290):c.180+1G>A	SNV Germline	Chr12:88140955	Pathogenic/Likely pathogenic	Nephronophthisis Meckel-Gruber syndrome Joubert syndrome Leber congenital amaurosis Condition: not provided Retinitis pigmentosa Meckel syndrome, type 4 Bardet-Biedl syndrome 14 Leber congenital amaurosis 10 Meckel syndrome, type 4 Senior-Loken syndrome 6 Joubert syndrome 5	Criteria Provided Multiple Submitters No Conflicts	CA6712897	rs_758593134	7 SubmittersRCV000542843 RCV000787558 RCV001091342 RCV001199655 RCV002289749 RCV002497107

SNV
Germline

Chr2:63492941

Pathogenic

Bardet-Biedl syndrome 15

No Assertion Criteria Provided

CA251366

rs_397704728

1 SubmittersRCV000000062

NM_006642.5(SDCCAG8):c.740+356C>T

SNV
Germline

Chr1:243305133

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 16
Senior-Loken syndrome 7
Bardet-Biedl syndrome
Senior-Loken syndrome 7
Bardet-Biedl syndrome 16
SDCCAG8-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA251367

rs_397515337

7 SubmittersRCV000000077 RCV000760978 RCV002265541 RCV002476900 RCV004532265 RCV005632148

NM_006642.5(SDCCAG8):c.679A>T (p.Lys227Ter)

SNV
Germline

Chr1:243304716

Pathogenic

Bardet-Biedl syndrome 16
Bardet-Biedl syndrome 16
Senior-Loken syndrome 7

Criteria Provided
Single Submitter

CA251368

rs_267607031

2 SubmittersRCV000000078 RCV003764499

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_024685.4(BBS10):c.101G>C (p.Arg34Pro)

SNV
Germline

Chr12:76348258

Likely pathogenic

Bardet-Biedl syndrome 10

Criteria Provided
Single Submitter

CA251747

rs_137852836

3 SubmittersRCV000001392

NM_024685.4(BBS10):c.931T>G (p.Ser311Ala)

SNV
Germline

Chr12:76347054

Pathogenic

Bardet-Biedl syndrome 10
Condition: not provided
Bardet-Biedl syndrome
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA251748

rs_137852837

5 SubmittersRCV000001394 RCV001093324 RCV001328242 RCV004814790

NM_024685.4(BBS10):c.32T>G (p.Val11Gly)

SNV
Germline

Chr12:76348327

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 10

No Assertion Criteria Provided

CA251749

rs_137852838

2 SubmittersRCV000001395

NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)

SNV
Germline

Chr12:88077263

Conflicting classifications of pathogenicity

Joubert syndrome 5
Condition: not provided
Meckel-Gruber syndrome
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Retinitis pigmentosa
Retinal dystrophy
Meckel syndrome, type 4
Joubert syndrome 5
Senior-Loken syndrome 6
Meckel syndrome, type 6
Leber congenital amaurosis
COG7 congenital disorder of glycosylation
Abnormality of the nervous system
Bardet-Biedl syndrome 14
Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
CEP290-related disorder
Leber congenital amaurosis 10

Criteria Provided
Conflicting Classifications

CA150917

rs_137852832

34 SubmittersRCV000001396 RCV000086298 RCV000114202 RCV000531295 RCV000515339 RCV000787813 RCV001073790 RCV001000092 RCV001002714 RCV001261607 RCV001276487 RCV001815157 RCV001836688 RCV001542773 RCV001836689 RCV003147273 RCV004798711

NM_025114.4(CEP290):c.2991+1655A>G

SNV
Germline

Chr12:88101183

Pathogenic

Leber congenital amaurosis 10
Condition: not provided
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Retinitis pigmentosa
Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Joubert syndrome 1
Retinal dystrophy
Joubert syndrome 5
Intellectual disability
CEP290-related disorder
Leber congenital amaurosis
Bardet-Biedl syndrome 14
Autosomal recessive CEP290-related disorders
CEP290-related ciliopathy

Reviewed By Expert Panel

CA227965

rs_281865192

28 SubmittersRCV000001400 RCV000086286 RCV000558460 RCV000678535 RCV000763315 RCV000988884 RCV001075828 RCV001196010 RCV001255341 RCV001731267 RCV001831503 RCV003460403 RCV006695480 RCV006731762

NM_025114.4(CEP290):c.2249T>G (p.Leu750Ter)

SNV
Germline

Chr12:88111320

Pathogenic

Leber congenital amaurosis 10
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA339890

rs_137852833

4 SubmittersRCV000001401 RCV001851541 RCV003466777 RCV006638513

NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)

SNV
Germline

Chr12:88083936

Pathogenic

Joubert syndrome 5
Leber congenital amaurosis 10
Blindness
Molar tooth sign on MRI
Nystagmus
Central hypotonia
Condition: not provided
not specified
Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Retinal dystrophy
Senior-Loken syndrome 6
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Leber congenital amaurosis
CEP290-related ciliopathy
CEP290-related disorder
Bardet-Biedl syndrome 14
Inborn genetic diseases
See cases

Reviewed By Expert Panel

CA251751

rs_137852834

26 SubmittersRCV000001402 RCV000001403 RCV000415219 RCV000415120 RCV000484693 RCV000508230 RCV000763312 RCV001075829 RCV001002715 RCV001046610 RCV001831504 RCV003492281 RCV003155008 RCV003466778 RCV004975257 RCV005887184

NM_025114.4(CEP290):c.613C>T (p.Arg205Ter)

SNV
Germline

Chr12:88130324

Pathogenic

Meckel syndrome, type 4
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Polycystic kidney disease
Severe hydrocephalus
Encephalocele
Leber congenital amaurosis
Leber congenital amaurosis 10
Condition: not provided
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Joubert syndrome 5
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Retinal dystrophy
CEP290-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA114937

rs_137852835

10 SubmittersRCV000001407 RCV001042869 RCV001257362 RCV001274134 RCV001376372 RCV001781163 RCV002496228 RCV003466779 RCV003887847 RCV004732519

NM_025114.4(CEP290):c.5704G>T (p.Glu1902Ter)

SNV
Germline

Chr12:88077227

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel syndrome, type 6
Leber congenital amaurosis 10

Criteria Provided
Multiple Submitters
No Conflicts

CA251753

rs_267606719

4 SubmittersRCV000001410 RCV000201631 RCV001261609 RCV004760315

NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys)

SNV
Germline

Chr8:93780962

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 14, modifier of
Nephronophthisis
Condition: not provided
Meckel syndrome, type 3
Nephronophthisis 11
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 6
RHYNS syndrome
COACH syndrome 1
not specified
TMEM67-related disorder
Familial pancreatic carcinoma
Thyroid cancer, nonmedullary, 1
6 conditions

Criteria Provided
Conflicting Classifications

CA114968

rs_111619594

16 SubmittersRCV000001444 RCV000234830 RCV000725926 RCV001158405 RCV001158406 RCV001085857 RCV001158404 RCV001198570 RCV001333012 RCV003488318 RCV004528064 RCV005887185 RCV005887186 RCV005394103

NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg)

SNV
Germline

Chr8:93795970

Pathogenic/Likely pathogenic

Joubert syndrome 6
Nephronophthisis 11
Nephronophthisis
Joubert syndrome
Renal cyst
Oligohydramnios
TMEM67-related disorder
Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Inborn genetic diseases
14 conditions
Nephronophthisis 11
COACH syndrome 1
Joubert syndrome 6
Meckel syndrome, type 3
Bardet-Biedl syndrome 14
RHYNS syndrome
6 conditions
Nephronophthisis 11
RHYNS syndrome
COACH syndrome 1
Joubert syndrome 6
Joubert syndrome and related disorders
Cholestatic liver disease

Criteria Provided
Multiple Submitters
No Conflicts

CA114977

rs_201893408

19 SubmittersRCV000001452 RCV000001451 RCV000234823 RCV000415055 RCV000283682 RCV000479077 RCV000534533 RCV000623857 RCV000627004 RCV000763610 RCV001197497 RCV005041963 RCV005357055 RCV005887187 RCV006647169

NM_017777.4(MKS1):c.80+2T>C

SNV
Germline

Chr17:58219149

Pathogenic/Likely pathogenic

Meckel syndrome, type 1
Meckel syndrome, type 1
Joubert syndrome 28
Bardet-Biedl syndrome 13

No Assertion Criteria Provided

CA342695

rs_386834052

3 SubmittersRCV000022413 RCV000665702

NM_017777.4(MKS1):c.1024+1G>A

SNV
Germline

Chr17:58210658

Pathogenic/Likely pathogenic

Meckel syndrome, type 1
Bardet-Biedl syndrome 13
Meckel syndrome, type 1
Joubert syndrome 28
Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided
Bardet-Biedl syndrome 13
MKS1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA342696

rs_199874059

9 SubmittersRCV000022414 RCV000668139 RCV001038005 RCV001570919 RCV003472957 RCV004732522

NM_017777.4(MKS1):c.417G>A (p.Glu139=)

SNV
Germline

Chr17:58216088

Conflicting classifications of pathogenicity

Meckel syndrome, type 1
Joubert syndrome
Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Meckel-Gruber syndrome
Joubert syndrome 28
Meckel syndrome, type 1
Bardet-Biedl syndrome 13
Bardet-Biedl syndrome 13
Inborn genetic diseases
MKS1-related disorder
Uterine corpus endometrial carcinoma
Uterine carcinosarcoma

Criteria Provided
Conflicting Classifications

CA213122

rs_386834048

22 SubmittersRCV000022415 RCV000201633 RCV000341018 RCV000694137 RCV000605128 RCV000666711 RCV001123802 RCV004018536 RCV004528065 RCV005887189 RCV005887188

NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp)

SNV
Germline

Chr17:58206479

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 13
Bardet-Biedl syndrome 13
Joubert syndrome 28
Meckel syndrome, type 1
Polydactyly
Hypotonia
Nystagmus
Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided
Joubert syndrome 28
MKS1-related disorder
Meckel syndrome, type 1
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA251777

rs_137853105

12 SubmittersRCV000001458 RCV000665962 RCV000626942 RCV001239533 RCV001578018 RCV001729331 RCV004532272 RCV004566669 RCV005357056

NM_001278293.3(ARL6):c.364C>T (p.Arg122Ter)

SNV
Germline

Chr3:97788004

Pathogenic

Bardet-Biedl syndrome 3
Bardet-Biedl syndrome
Retinitis pigmentosa 55
Bardet-Biedl syndrome 3
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA252067

rs_104893678

4 SubmittersRCV000002120 RCV001002871 RCV002512667 RCV004814794

NM_001278293.3(ARL6):c.506G>C (p.Gly169Ala)

SNV
Germline

Chr3:97791797

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 1, modifier of
Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 3
Retinitis pigmentosa 55
Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 1
Retinitis pigmentosa 55

Criteria Provided
Multiple Submitters
No Conflicts

CA115313

rs_104893679

3 SubmittersRCV000002122 RCV000002121 RCV002512668 RCV005024988

NM_001278293.3(ARL6):c.92C>T (p.Thr31Met)

SNV
Germline

Chr3:97768199

Pathogenic

Bardet-Biedl syndrome 3
Retinitis pigmentosa
Retinitis pigmentosa 55
Bardet-Biedl syndrome 3
Condition: not provided
Bardet-Biedl syndrome 1
Retinitis pigmentosa 55
Bardet-Biedl syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA252069

rs_104893680

5 SubmittersRCV000002123 RCV001723532 RCV001851573 RCV003133114 RCV005031381

NM_001278293.3(ARL6):c.509T>G (p.Leu170Trp)

SNV
Germline

Chr3:97791800

Pathogenic

Bardet-Biedl syndrome 3

No Assertion Criteria Provided

CA252071

rs_104893681

1 SubmittersRCV000002124

NM_001278293.3(ARL6):c.92C>G (p.Thr31Arg)

SNV
Germline

Chr3:97768199

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 3
Retinitis pigmentosa 55
Retinal dystrophy
Bardet-Biedl syndrome 3
Retinitis pigmentosa 55
Bardet-Biedl syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA252073

rs_104893680

4 SubmittersRCV000002125 RCV001063683 RCV004814795 RCV005024989

NM_144596.4(TTC8):c.489G>A (p.Thr163=)

SNV
Germline

Chr14:88841196

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 8
Bardet-Biedl syndrome
Postaxial foot polydactyly
Truncal obesity
Moderate intellectual disability
Retinal dystrophy
Retinitis pigmentosa 51
TTC8-related disorder
Ovarian serous cystadenocarcinoma
Bardet-Biedl syndrome 8
Retinitis pigmentosa 51
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA339995

rs_119103286

13 SubmittersRCV000002639 RCV000203928 RCV000415339 RCV001074706 RCV001197566 RCV003415630 RCV005887213 RCV005007809 RCV005434586

NM_144596.4(TTC8):c.624+1G>A

SNV
Germline

Chr14:88843851

Pathogenic

Bardet-Biedl syndrome 8
Condition: not provided

No Assertion Criteria Provided

CA252323

rs_587777808

3 SubmittersRCV000002640 RCV001699099

NM_198428.3(BBS9):c.1789+1G>A

SNV
Germline

Chr7:33367863

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 9
Condition: not provided
Bardet-Biedl syndrome
BBS9-related disorder
Pancreatic adenocarcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA252383

rs_201938124

12 SubmittersRCV000002775 RCV000413775 RCV003522915 RCV004745141 RCV005887226

NM_198428.3(BBS9):c.1792C>T (p.Arg598Ter)

SNV
Germline

Chr7:33383668

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 9
Bardet-Biedl syndrome
Nephronophthisis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA252384

rs_137852856

8 SubmittersRCV000002776 RCV000735941 RCV004813029

NM_198428.3(BBS9):c.421G>A (p.Gly141Arg)

SNV
Germline

Chr7:33177570

Likely pathogenic

Bardet-Biedl syndrome 9
Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA252387

rs_137852857

2 SubmittersRCV000002778 RCV004799728

NM_198428.3(BBS9):c.1063C>T (p.Gln355Ter)

SNV
Germline

Chr7:33336487

Pathogenic

Bardet-Biedl syndrome 9
Bardet-Biedl syndrome
Condition: not provided
BBS9-related disorder
Early onset severe obesity

Criteria Provided
Multiple Submitters
No Conflicts

CA252388

rs_137852858

7 SubmittersRCV000002779 RCV001002885 RCV003221780 RCV004745142 RCV006629046

NM_198428.3(BBS9):c.442+1G>C

SNV
Germline

Chr7:33177592

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 9
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA252390

rs_587777811

5 SubmittersRCV000002780 RCV003522916

NM_176824.3(BBS7):c.968A>G (p.His323Arg)

SNV
Germline

Chr4:121847473

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 7
Condition: not provided
Bardet-Biedl syndrome
BBS7-related disorder
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA252533

rs_119466001

10 SubmittersRCV000003151 RCV001091375 RCV001240994 RCV003964791 RCV004814815

NM_176824.3(BBS7):c.632C>T (p.Thr211Ile)

SNV
Germline

Chr4:121854790

Pathogenic

Bardet-Biedl syndrome 1/7, digenic
Bardet-Biedl syndrome
Bardet-Biedl syndrome 7
BBS7-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA252534

rs_119466002

5 SubmittersRCV000003152 RCV000456825 RCV002482819 RCV004742210

NM_031885.5(BBS2):c.224T>G (p.Val75Gly)

SNV
Germline

Chr16:56514574

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome
Retinitis pigmentosa 74
Bardet-Biedl syndrome 2
BBS2-related ciliopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA253233

rs_121908174

8 SubmittersRCV000004831 RCV001002877 RCV005411280 RCV005632165

NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter)

SNV
Germline

Chr16:56519791

Pathogenic/Likely pathogenic

BARDET-BIEDL SYNDROME 2/6, DIGENIC
Bardet-Biedl syndrome 2
Bardet-Biedl syndrome
Retinitis pigmentosa 74
Bardet-Biedl syndrome 2
Retinitis pigmentosa
Retinal dystrophy
BBS2-related disorder
Condition: not provided
Retinal disorder
Early onset severe obesity

Criteria Provided
Multiple Submitters
No Conflicts

CA116926

rs_121908175

14 SubmittersRCV000004832 RCV000412476 RCV000589350 RCV000762970 RCV000787792 RCV001074960 RCV004732529 RCV005632166 RCV006253450 RCV006629050

NM_031885.5(BBS2):c.175C>T (p.Gln59Ter)

SNV
Germline

Chr16:56514623

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome
Condition: not provided
Retinitis pigmentosa 74
Bardet-Biedl syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA253235

rs_121908176

9 SubmittersRCV000004833 RCV000587533 RCV003441704 RCV002490314

NM_031885.5(BBS2):c.823C>T (p.Arg275Ter)

SNV
Germline

Chr16:56502790

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 74
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74
BBS2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA253237

rs_121908177

18 SubmittersRCV000004834 RCV000269226 RCV000493074 RCV001074104 RCV000762967 RCV002466394 RCV004528072

NM_031885.5(BBS2):c.943C>T (p.Arg315Trp)

SNV
Germline

Chr16:56502454

Pathogenic/Likely pathogenic

Bardet-biedl syndrome 2/4, digenic
Bardet-Biedl syndrome 2
Bardet-Biedl syndrome
Autosomal recessive retinitis pigmentosa
Retinal dystrophy
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74
Retinitis pigmentosa 74

Criteria Provided
Multiple Submitters
No Conflicts

CA116928

rs_121908178

9 SubmittersRCV000004835 RCV000675099 RCV001226053 RCV001257834 RCV003887853 RCV005016240 RCV005867723

NM_031885.5(BBS2):c.311A>C (p.Asp104Ala)

SNV
Germline

Chr16:56514487

Pathogenic

Bardet-biedl syndrome 1/2, digenic
Retinitis pigmentosa 74
Bardet-Biedl syndrome
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74
Bardet-Biedl syndrome 2
Retinitis pigmentosa
Condition: not provided
BBS2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA116932

rs_121908179

13 SubmittersRCV000004839 RCV000190985 RCV000587645 RCV000665304 RCV000762969 RCV001002876 RCV001582466 RCV004532290

NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro)

SNV
Germline

Chr16:56496982

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 2
Retinitis pigmentosa 74
BBS2-related disorder
Bardet-Biedl syndrome
Retinitis pigmentosa
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 74
Bardet-Biedl syndrome 2
Inborn genetic diseases
Autosomal recessive BBS2-related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA060272

rs_138043021

21 SubmittersRCV000004840 RCV000190986 RCV000380902 RCV000589221 RCV001002874 RCV001073916 RCV001268711 RCV002490315 RCV002512776 RCV006694410

NM_031885.5(BBS2):c.118-1G>C

SNV
Germline

Chr16:56514681

Likely pathogenic

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA253239

rs_587777825

2 SubmittersRCV000004841 RCV006461097

NM_031885.5(BBS2):c.646C>T (p.Arg216Ter)

SNV
Germline

Chr16:56506191

Pathogenic

BARDET-BIEDL SYNDROME 2/6, DIGENIC
Bardet-Biedl syndrome 2
Retinal dystrophy
Bardet-Biedl syndrome
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74

Criteria Provided
Multiple Submitters
No Conflicts

CA116935

rs_121908180

10 SubmittersRCV000004845 RCV000668482 RCV000787791 RCV001056084 RCV005016241

NM_031885.5(BBS2):c.416G>T (p.Gly139Val)

SNV
Germline

Chr16:56511214

Pathogenic

Bardet-Biedl syndrome 2

No Assertion Criteria Provided

CA253240

rs_121908181

1 SubmittersRCV000004846

NM_170784.3(MKKS):c.250C>T (p.His84Tyr)

SNV
Germline

Chr20:10413265

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
McKusick-Kaufman syndrome
Bardet-Biedl syndrome 6
Condition: not provided
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA028791

rs_281797258

4 SubmittersRCV001865699 RCV003476316 RCV004701653 RCV005407746

NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys)

SNV
Germline

Chr20:10413405

Pathogenic/Likely pathogenic

McKusick-Kaufman syndrome
Bardet-Biedl syndrome 6
Condition: not provided
McKusick-Kaufman syndrome
Bardet-Biedl syndrome
Bardet-Biedl syndrome 6
McKusick-Kaufman syndrome
Retinal dystrophy
Inborn genetic diseases
Nephronophthisis
Bardet-Biedl syndrome
MKKS-related disorder
Syndromic inherited retinal disease
MKKS-related ciliopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA170910

rs_74315396

21 SubmittersRCV000005633 RCV000005634 RCV000724561 RCV000824067 RCV000763444 RCV001075509 RCV001267323 RCV001328206 RCV002222341 RCV004532292 RCV005417416 RCV006249549

NM_170784.3(MKKS):c.155G>A (p.Gly52Asp)

SNV
Germline

Chr20:10413360

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 6
McKusick-Kaufman syndrome
Bardet-Biedl syndrome
Bardet-Biedl syndrome 6
McKusick-Kaufman syndrome
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA253459

rs_28937875

5 SubmittersRCV000005636 RCV001851674 RCV005025008 RCV005430918

NM_170784.3(MKKS):c.792T>A (p.Tyr264Ter)

SNV
Germline

Chr20:10412723

Pathogenic

Bardet-Biedl syndrome 6

No Assertion Criteria Provided

CA253461

rs_74315397

1 SubmittersRCV000005637

NM_170784.3(MKKS):c.830T>C (p.Leu277Pro)

SNV
Germline

Chr20:10412685

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 6
Condition: not provided
Inborn genetic diseases
Bardet-Biedl syndrome
McKusick-Kaufman syndrome
Bardet-Biedl syndrome
MKKS-related disorder
McKusick-Kaufman syndrome
Bardet-Biedl syndrome 6
McKusick-Kaufman syndrome

Criteria Provided
Conflicting Classifications

CA243463

rs_74315398

13 SubmittersRCV000005639 RCV000481638 RCV001267056 RCV003230348 RCV001851675 RCV004532293 RCV003987313 RCV005025009

NM_170784.3(MKKS):c.169A>G (p.Thr57Ala)

SNV
Germline

Chr20:10413346

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 6
McKusick-Kaufman syndrome
Bardet-Biedl syndrome
Condition: not provided
McKusick-Kaufman syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA253464

rs_74315399

7 SubmittersRCV000005641 RCV001376920 RCV002307354 RCV000990288

NM_170784.3(MKKS):c.442C>T (p.Gln148Ter)

SNV
Germline

Chr20:10413073

Pathogenic

BARDET-BIEDL SYNDROME 2/6, DIGENIC

No Assertion Criteria Provided

CA117400

rs_137853154

1 SubmittersRCV000005643

NM_170784.3(MKKS):c.1496G>C (p.Cys499Ser)

SNV
Germline

Chr20:10405464

Pathogenic

BARDET-BIEDL SYNDROME 2/6, DIGENIC

No Assertion Criteria Provided

CA117403

rs_281797259

1 SubmittersRCV000005644

NM_152384.3(BBS5):c.522+3A>G

SNV
Germline

Chr2:169493012

Pathogenic

Bardet-Biedl syndrome 5
Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA253783

rs_587777828

2 SubmittersRCV000006532 RCV002307356

NM_152384.3(BBS5):c.425T>A (p.Leu142Ter)

SNV
Germline

Chr2:169492912

Pathogenic

Bardet-Biedl syndrome 5

No Assertion Criteria Provided

CA349164684

rs_1574339529

1 SubmittersRCV000006533

NM_152384.3(BBS5):c.177G>A (p.Trp59Ter)

SNV
Germline

Chr2:169487103

Pathogenic

Bardet-Biedl syndrome 5
Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA59929675

rs_767221160

2 SubmittersRCV000006535 RCV003633480

NM_152384.3(BBS5):c.214G>A (p.Gly72Ser)

SNV
Germline

Chr2:169487811

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 5
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA253784

rs_121908581

6 SubmittersRCV000006536 RCV000787535

NM_152384.3(BBS5):c.547A>G (p.Thr183Ala)

SNV
Germline

Chr2:169493765

Pathogenic

Bardet-Biedl syndrome 5

No Assertion Criteria Provided

CA253785

rs_121908582

1 SubmittersRCV000006537

NM_012210.4(TRIM32):c.1459G>A (p.Asp487Asn)

SNV
Germline

Chr9:116699201

Pathogenic

Sarcotubular myopathy
Myopathy
Bardet-Biedl syndrome
Bardet-Biedl syndrome 11
Condition: not provided
TRIM32-related disorder
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA118728

rs_111033570

9 SubmittersRCV000007775 RCV000414917 RCV000538874 RCV001198489 RCV001781203 RCV004748509 RCV004814854

NM_012210.4(TRIM32):c.388C>T (p.Pro130Ser)

SNV
Germline

Chr9:116698130

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 11
Bardet-Biedl syndrome
TRIM32-related disorder
Condition: not provided
Autosomal recessive TRIM32-related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA254151

rs_111033571

5 SubmittersRCV000007776 RCV000199127 RCV003904817 RCV003488330 RCV006635415

NM_012210.4(TRIM32):c.1181G>A (p.Arg394His)

SNV
Germline

Chr9:116698923

Conflicting classifications of pathogenicity

Sarcotubular myopathy
Condition: not provided
Bardet-Biedl syndrome
Bardet-Biedl syndrome 11
TRIM32-related disorder
Bardet-Biedl syndrome 11
Sarcotubular myopathy

Criteria Provided
Conflicting Classifications

CA118731

rs_121434447

7 SubmittersRCV000007778 RCV000362326 RCV000638363 RCV001334685 RCV004748510 RCV006713088

NM_033028.5(BBS4):c.884G>C (p.Arg295Pro)

SNV
Germline

Chr15:72731574

Pathogenic

Bardet-Biedl syndrome 4
Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA254669

rs_121434632

3 SubmittersRCV000009716 RCV001002881

NM_033028.5(BBS4):c.157-2A>G

SNV
Germline

Chr15:72712242

Pathogenic

Bardet-Biedl syndrome 4
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA254671

rs_113994192

6 SubmittersRCV000009718 RCV000020932

NM_033028.5(BBS4):c.1091C>A (p.Ala364Glu)

SNV
Germline

Chr15:72735167

Likely pathogenic

Bardet-Biedl syndrome 4
Bardet-Biedl syndrome 1

Criteria Provided
Single Submitter

CA254672

rs_28938468

3 SubmittersRCV000009719 RCV003228893

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
Inborn genetic diseases
BBS1-related disorder
Severe early-childhood-onset retinal dystrophy
Retinal disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA223760

rs_113624356

58 SubmittersRCV000012926 RCV000082202 RCV000174408 RCV000210319 RCV000504693 RCV000787785 RCV002251900 RCV002513000 RCV003390672 RCV005621849 RCV006272250

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

9 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
Retinal dystrophy
Bardet-Biedl syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA256230

rs_121917778

10 SubmittersRCV000012930 RCV001075155 RCV001055313 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_033028.5(BBS4):c.220+1G>C

SNV
Germline

Chr15:72712308

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA342422

rs_113994190

2 SubmittersRCV000020933

NM_033028.5(BBS4):c.406-2A>C

SNV
Germline

Chr15:72722792

Pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 4

Criteria Provided
Single Submitter

CA342423

rs_113994191

2 SubmittersRCV000020934 RCV005222697

NM_033028.5(BBS4):c.20C>T (p.Ala7Val)

SNV
Germline

Chr15:72686247

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
BBS4-related disorder

No Assertion Criteria Provided

CA342432

rs_113994186

2 SubmittersRCV000020942 RCV004748537

NM_170784.3(MKKS):c.724G>T (p.Ala242Ser)

SNV
Germline

Chr20:10412791

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bardet-Biedl syndrome
McKusick-Kaufman syndrome
McKusick-Kaufman syndrome
Early onset severe obesity

Criteria Provided
Conflicting Classifications

CA090940

rs_74315394

15 SubmittersRCV000153503 RCV000436285 RCV001084541 RCV000990285 RCV006629086

NM_031885.5(BBS2):c.472-2A>G

SNV
Germline

Chr16:56510923

Pathogenic

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome
BBS2-related disorder

Criteria Provided
Single Submitter

CA259829

rs_137854887

3 SubmittersRCV000023507 RCV001852022 RCV004532399

NM_024685.4(BBS10):c.273C>G (p.Cys91Trp)

SNV
Germline

Chr12:76347712

Pathogenic

Bardet-Biedl syndrome 10
Bardet-Biedl syndrome
Condition: not provided
Bardet-Biedl syndrome 1
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA259914

rs_148374859

14 SubmittersRCV000023803 RCV000225785 RCV000732709 RCV003228900 RCV004814923

NM_177965.4(CFAP418):c.529C>T (p.Arg177Trp)

SNV
Germline

Chr8:95247712

Pathogenic/Likely pathogenic

Cone-rod dystrophy 16
Bardet-biedl syndrome 21
Retinitis pigmentosa
Autosomal recessive retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA260013

rs_387907136

6 SubmittersRCV000024193 RCV000477682 RCV001002908 RCV001257837 RCV002228055 RCV004794345

NM_024685.4(BBS10):c.1736A>G (p.Lys579Arg)

SNV
Germline

Chr12:76346249

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
not specified
Bardet-Biedl syndrome 10
Condition: not provided

Criteria Provided
Conflicting Classifications

CA260178

rs_141521925

8 SubmittersRCV000029402 RCV000246690 RCV000675134 RCV001753428

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

10 SubmittersRCV001074387 RCV001228905 RCV001725934 RCV001835636

NM_031885.5(BBS2):c.1015C>T (p.Arg339Ter)

SNV
Germline

Chr16:56502382

Pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74
Retinitis pigmentosa 74
Bardet-Biedl syndrome 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA260182

rs_193922710

9 SubmittersRCV000029406 RCV000672755 RCV004798748 RCV005016297 RCV004719664

NM_017777.4(MKS1):c.472C>T (p.Arg158Ter)

SNV
Germline

Chr17:58214784

Pathogenic

Meckel syndrome, type 1
Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Bardet-Biedl syndrome 13
MKS1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA344757

rs_386834050

6 SubmittersRCV000050036 RCV000760436 RCV001382376 RCV003474635 RCV004732640

NM_017777.4(MKS1):c.515+1G>A

SNV
Germline

Chr17:58214740

Pathogenic/Likely pathogenic

Meckel syndrome, type 1
Joubert syndrome 28
Meckel syndrome, type 1
Bardet-Biedl syndrome 13
Meckel-Gruber syndrome
Joubert syndrome
Bardet-Biedl syndrome 13
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344762

rs_201933838

9 SubmittersRCV000050037 RCV000671081 RCV001220121 RCV003474636 RCV004696672

NM_017777.4(MKS1):c.958G>A (p.Val320Ile)

SNV
Germline

Chr17:58210980

Conflicting classifications of pathogenicity

Meckel syndrome, type 1
Meckel syndrome, type 1
Leber congenital amaurosis 6
Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Bardet-Biedl syndrome 13
Joubert syndrome 28
Meckel syndrome, type 1
Bardet-Biedl syndrome 13

Criteria Provided
Conflicting Classifications

CA344764

rs_386834053

8 SubmittersRCV000050040 RCV000735871 RCV000735097 RCV001853066 RCV003474638 RCV005025107

NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter)

SNV
Germline

Chr12:88114488

Pathogenic

Meckel syndrome, type 4
Joubert syndrome 5
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Retinitis pigmentosa
Leber congenital amaurosis
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Joubert syndrome 5
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Condition: not provided
CEP290-related disorder
Senior-Loken syndrome 1
Autosomal recessive CEP290-related disorders
CEP290-related ciliopathy

Reviewed By Expert Panel

CA144389

rs_386834152

14 SubmittersRCV000050146 RCV000201755 RCV000685655 RCV000787812 RCV000787559 RCV001376367 RCV002504949 RCV003460645 RCV002285263 RCV004732641 RCV005644503 RCV006695538 RCV006731775

NM_025114.4(CEP290):c.289G>T (p.Glu97Ter)

SNV
Germline

Chr12:88139153

Pathogenic/Likely pathogenic

Meckel syndrome, type 4
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Condition: not provided
Leber congenital amaurosis
Bardet-Biedl syndrome 14
Joubert syndrome 5
Retinal dystrophy
CEP290-related ciliopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA144391

rs_386834153

11 SubmittersRCV000050147 RCV001053674 RCV001091341 RCV001274137 RCV003466923 RCV004760362 RCV004814991 RCV005632219

NM_024685.4(BBS10):c.1202G>A (p.Gly401Glu)

SNV
Germline

Chr12:76346783

Likely pathogenic

Bardet-Biedl syndrome 10
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA265990

rs_199474722

2 SubmittersRCV000058867 RCV003221799

NM_001278293.3(ARL6):c.272T>C (p.Ile91Thr)

SNV
Germline

Chr3:97784972

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 3
Retinitis pigmentosa 55
Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 1
Retinitis pigmentosa 55
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA280042

rs_137854907

6 SubmittersRCV000058868 RCV003764740 RCV005234962 RCV005025110 RCV005632222

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_152384.3(BBS5):c.413G>A (p.Arg138His)

SNV
Germline

Chr2:169492900

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA265994

rs_179363897

5 SubmittersRCV000058870 RCV005025111

NM_033028.5(BBS4):c.63C>T (p.Pro21=)

SNV
Germline

Chr15:72695215

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 4

Criteria Provided
Conflicting Classifications

CA7646459

rs_267604309

2 SubmittersRCV000866356 RCV001120609

NM_012210.4(TRIM32):c.1458C>T (p.Thr486=)

SNV
Germline

Chr9:116699200

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome 11
Bardet-Biedl syndrome
Sarcotubular myopathy
TRIM32-related disorder

Criteria Provided
Conflicting Classifications

CA223032

rs_141965401

4 SubmittersRCV000081523 RCV001168408 RCV001414311 RCV001168407 RCV003935058

NM_012210.4(TRIM32):c.276C>T (p.Ser92=)

SNV
Germline

Chr9:116698018

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome
Bardet-Biedl syndrome 11
Sarcotubular myopathy
TRIM32-related disorder

Criteria Provided
Conflicting Classifications

CA223035

rs_140589523

9 SubmittersRCV000081524 RCV001084684 RCV001166605 RCV001166606 RCV003915080

NM_012210.4(TRIM32):c.501G>A (p.Lys167=)

SNV
Germline

Chr9:116698243

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bardet-Biedl syndrome
TRIM32-related disorder

Criteria Provided
Conflicting Classifications

CA223038

rs_200085883

4 SubmittersRCV000081525 RCV000723768 RCV001088482 RCV003952517

NM_012210.4(TRIM32):c.678C>T (p.Tyr226=)

SNV
Germline

Chr9:116698420

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA223041

rs_398124253

2 SubmittersRCV000081526 RCV001079052

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

11 SubmittersRCV000082205 RCV000861255 RCV001104146 RCV001573960 RCV002513848

NM_025114.4(CEP290):c.4237G>C (p.Asp1413His)

SNV
Germline

Chr12:88086456

Conflicting classifications of pathogenicity

not specified
Leber congenital amaurosis 10
Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Leber congenital amaurosis
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA149314

rs_183655276

11 SubmittersRCV000082249 RCV000307654 RCV000351974 RCV000366483 RCV000408211 RCV000402012 RCV000442189 RCV001082252 RCV001273070 RCV004528298

NM_152384.3(BBS5):c.584A>G (p.Asp195Gly)

SNV
Germline

Chr2:169493802

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bardet-Biedl syndrome
Sarcoma
Malignant tumor of esophagus
Nonpapillary renal cell carcinoma
Cervical cancer

Criteria Provided
Conflicting Classifications

CA224184

rs_143191074

7 SubmittersRCV000249419 RCV000766388 RCV001081706 RCV005887676 RCV005887673 RCV005887674 RCV005887675

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_198428.3(BBS9):c.771A>G (p.Ala257=)

SNV
Germline

Chr7:33273080

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA224384

rs_145007686

3 SubmittersRCV000242657 RCV000723712 RCV001459891

NM_015662.3(IFT172):c.5179T>C (p.Cys1727Arg)

SNV
Germline

Chr2:27444503

Pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
Short-rib thoracic dysplasia 10 with or without polydactyly
IFT172-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA149722

rs_149614625

6 SubmittersRCV000083268 RCV001228000 RCV001723662 RCV002483157 RCV004737195

NM_015662.3(IFT172):c.4630C>T (p.Arg1544Cys)

SNV
Germline

Chr2:27447544

Pathogenic/Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Joubert syndrome
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
Condition: not provided
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71

Criteria Provided
Multiple Submitters
No Conflicts

CA149724

rs_587777079

5 SubmittersRCV000083270 RCV000201713 RCV002483158 RCV003225027 RCV005213205

NM_015662.3(IFT172):c.886C>T (p.Arg296Trp)

SNV
Germline

Chr2:27480049

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 without polydactyly
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Inborn genetic diseases
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71
Condition: not provided
IFT172-related disorder

Criteria Provided
Conflicting Classifications

CA149729

rs_145541911

6 SubmittersRCV000083274 RCV001303423 RCV003278664 RCV002490732 RCV003153361 RCV004549522

NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter)

SNV
Germline

Chr12:88089247

Pathogenic

Condition: not provided
Joubert syndrome 5
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Leber congenital amaurosis
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
CEP290-related ciliopathy

Reviewed By Expert Panel

CA227967

rs_62640581

10 SubmittersRCV000086289 RCV001199210 RCV001216498 RCV001831897 RCV002498466 RCV003467011 RCV006731784

NM_025114.4(CEP290):c.4771C>T (p.Gln1591Ter)

SNV
Germline

Chr12:88083888

Pathogenic

Condition: not provided
Leber congenital amaurosis
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Bardet-Biedl syndrome 14
CEP290-related disorder
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Joubert syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA227973

rs_62640574

6 SubmittersRCV000086293 RCV001002936 RCV001385691 RCV003467013 RCV004542803 RCV005008008

NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter)

SNV
Germline

Chr12:88083077

Pathogenic/Likely pathogenic

Condition: not provided
CEP290-related disorder
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Senior-Loken syndrome 6
Retinitis pigmentosa
Leber congenital amaurosis
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Joubert syndrome 5
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Joubert syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA227975

rs_62638179

11 SubmittersRCV000086294 RCV000263885 RCV000637002 RCV001335142 RCV001723671 RCV001276492 RCV002227445 RCV003467014 RCV005008009 RCV006645455

NM_012210.4(TRIM32):c.1222C>T (p.Arg408Cys)

SNV
Germline

Chr9:116698964

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Bardet-Biedl syndrome 11
Bardet-Biedl syndrome
Sarcotubular myopathy

Criteria Provided
Conflicting Classifications

CA228919

rs_3747835

14 SubmittersRCV000086966 RCV000244938 RCV000626297 RCV001084393 RCV001166672

NM_170784.3(MKKS):c.1015A>G (p.Ile339Val)

SNV
Germline

Chr20:10408774

Conflicting classifications of pathogenicity

Condition: not provided
not specified
McKusick-Kaufman syndrome
Bardet-Biedl syndrome 6
Bardet-Biedl syndrome
McKusick-Kaufman syndrome

Criteria Provided
Conflicting Classifications

CA200249

rs_137853909

16 SubmittersRCV000086969 RCV000173033 RCV000585746 RCV000677321 RCV001083442

NM_152384.3(BBS5):c.551A>G (p.Asn184Ser)

SNV
Germline

Chr2:169493769

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cone dystrophy
Bardet-Biedl syndrome
Retinal dystrophy
Uterine corpus endometrial carcinoma
Colorectal cancer
Familial cancer of breast
Colon adenocarcinoma
Sarcoma
Lung cancer
Intellectual disability
Gastric cancer
Thyroid cancer, nonmedullary, 1
Melanoma
Cholangiocarcinoma

Criteria Provided
Conflicting Classifications

CA179794

rs_137853921

14 SubmittersRCV000087001 RCV000152843 RCV000504860 RCV001257073 RCV004815182 RCV005887784 RCV005887777 RCV005887775 RCV005887776 RCV005887778 RCV005887783 RCV005625287 RCV005887779 RCV005887780 RCV005887781 RCV005887782

NM_144596.4(TTC8):c.625-5C>T

SNV
Germline

Chr14:88852966

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Retinitis pigmentosa
Bardet-Biedl syndrome
Bardet-Biedl syndrome 8

Criteria Provided
Conflicting Classifications

CA331786

rs_137853922

10 SubmittersRCV000087004 RCV000253567 RCV000787922 RCV001079560 RCV001121196

NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln)

SNV
Germline

Chr12:88079219

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis
Kidney disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA150915

rs_61941020

19 SubmittersRCV000114201 RCV000292636 RCV000336982 RCV000352237 RCV000399104 RCV000407985 RCV000436165 RCV001084256 RCV001826782 RCV002294031 RCV003888506

NM_001195305.3(BBIP1):c.173T>G (p.Leu58Ter)

SNV
Germline

Chr10:110900466

Pathogenic

Bardet-Biedl syndrome 1
Bardet-Biedl syndrome 18

No Assertion Criteria Provided

CA151209

rs_515726134

2 SubmittersRCV000114318 RCV000114434

NM_020347.4(LZTFL1):c.260T>C (p.Leu87Pro)

SNV
Germline

Chr3:45835653

Pathogenic

Bardet-Biedl syndrome 1
Bardet-Biedl syndrome 17

No Assertion Criteria Provided

CA170605

rs_515726135

2 SubmittersRCV000114319 RCV000133552

NM_020347.4(LZTFL1):c.778G>T (p.Glu260Ter)

SNV
Germline

Chr3:45827459

Pathogenic

Bardet-Biedl syndrome 1
Bardet-Biedl syndrome 17

No Assertion Criteria Provided

CA170607

rs_515726136

2 SubmittersRCV000114320 RCV000133553

NM_025114.4(CEP290):c.3465G>A (p.Leu1155=)

SNV
Germline

Chr12:88090836

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Leber congenital amaurosis
Condition: not provided
Kidney disorder

Criteria Provided
Conflicting Classifications

CA290039

rs_150138016

8 SubmittersRCV000124246 RCV000293222 RCV000279934 RCV000337209 RCV000375509 RCV000372128 RCV000459124 RCV001271579 RCV001812001 RCV002294037

NM_025114.4(CEP290):c.5199A>G (p.Gln1733=)

SNV
Germline

Chr12:88080209

Conflicting classifications of pathogenicity

not specified
Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Leber congenital amaurosis
Condition: not provided
Kidney disorder

Criteria Provided
Conflicting Classifications

CA290041

rs_79644671

9 SubmittersRCV000124248 RCV000259368 RCV000267777 RCV000319253 RCV000354431 RCV000322977 RCV000472139 RCV001276489 RCV001812002 RCV002294038

NM_001177701.3(IFT27):c.299G>A (p.Cys100Tyr)

SNV
Germline

Chr22:36763972

Pathogenic

Bardet-Biedl syndrome 19
IFT27-related disorder

Criteria Provided
Single Submitter

CA163415

rs_587777546

3 SubmittersRCV000128641 RCV004754306

NM_016247.4(IMPG2):c.3262C>T (p.Arg1088Ter)

SNV
Germline

Chr3:101231117

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Autosomal recessive retinitis pigmentosa
Vitelliform macular dystrophy 5
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA270121

rs_199867882

14 SubmittersRCV000132676 RCV000585301 RCV001074065 RCV001257827 RCV001270127 RCV005625313

NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly)

SNV
Germline

Chr12:88058879

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Leber congenital amaurosis 10
Joubert syndrome 1
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Meckel syndrome, type 4
Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis
Retinal dystrophy
Malignant tumor of esophagus
Hepatocellular carcinoma

Criteria Provided
Conflicting Classifications

CA207418

rs_77778467

13 SubmittersRCV000132681 RCV000193732 RCV000490488 RCV000988879 RCV001083794 RCV001110731 RCV001110732 RCV001109949 RCV001109950 RCV001272010 RCV003888568 RCV005886947 RCV005886946

NM_033028.5(BBS4):c.1414A>G (p.Met472Val)

SNV
Germline

Chr15:72736927

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Bardet-Biedl syndrome 4
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA232857

rs_2277596

8 SubmittersRCV000132689 RCV000246726 RCV000490439 RCV001085941

NM_025114.4(CEP290):c.1711+1G>A

SNV
Germline

Chr12:88118482

Pathogenic/Likely pathogenic

Leber congenital amaurosis 10
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5
CEP290-related disorder
Bardet-Biedl syndrome 14
Retinal dystrophy
Meckel syndrome, type 3
Meckel syndrome, type 4
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA345951

rs_587783009

9 SubmittersRCV000144459 RCV001384909 RCV002492522 RCV003387770 RCV003467201 RCV003888575 RCV006454658 RCV005867926 RCV006638876

NM_025114.4(CEP290):c.3904C>T (p.Gln1302Ter)

SNV
Germline

Chr12:88089157

Pathogenic

Leber congenital amaurosis 10
Joubert syndrome 5
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Leber congenital amaurosis
Bardet-Biedl syndrome 14
CEP290-related ciliopathy

Reviewed By Expert Panel

CA277711

rs_587783016

6 SubmittersRCV000144467 RCV000201586 RCV001385693 RCV001831927 RCV003467203 RCV006731803

NM_015910.7(WDPCP):c.160G>A (p.Asp54Asn)

SNV
Germline

Chr2:63492856

Conflicting classifications of pathogenicity

Heart defect - tongue hamartoma - polysyndactyly syndrome
Orofaciodigital syndrome
Bardet-Biedl syndrome
WDPCP-related disorder
Heart defect - tongue hamartoma - polysyndactyly syndrome
Bardet-Biedl syndrome 15
Melanoma
Retinal disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA175137

rs_200322968

12 SubmittersRCV000150109 RCV000851198 RCV001325297 RCV003422040 RCV005031656 RCV005888303 RCV006649923 RCV006649922

NM_006642.5(SDCCAG8):c.1409A>G (p.Glu470Gly)

SNV
Germline

Chr1:243344267

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome 16
Senior-Loken syndrome 7
Bardet-Biedl syndrome 16
Senior-Loken syndrome 7
SDCCAG8-related disorder

Criteria Provided
Conflicting Classifications

CA234901

rs_118064970

4 SubmittersRCV000153922 RCV001086622 RCV001099560 RCV001099561 RCV004532738

NM_025114.4(CEP290):c.4250A>G (p.Gln1417Arg)

SNV
Germline

Chr12:88086443

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Joubert syndrome 5
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Leber congenital amaurosis
Inborn genetic diseases
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA233675

rs_201504946

8 SubmittersRCV000152977 RCV000281671 RCV000313475 RCV000348281 RCV000373904 RCV000390170 RCV000763864 RCV001245512 RCV001279535 RCV002516071 RCV004528881

NM_025114.4(CEP290):c.226G>A (p.Ala76Thr)

SNV
Germline

Chr12:88139519

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Leber congenital amaurosis 10
Senior-Loken syndrome 6
not specified
Inborn genetic diseases
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA233682

rs_373913704

9 SubmittersRCV000723892 RCV001079764 RCV001110739 RCV001110738 RCV001110740 RCV001109956 RCV001110741 RCV001818343 RCV003298162 RCV004528882

NM_033028.5(BBS4):c.1049A>G (p.Asn350Ser)

SNV
Germline

Chr15:72735125

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome
BBS4-related disorder

Criteria Provided
Conflicting Classifications

CA233519

rs_150395094

3 SubmittersRCV000152841 RCV001085932 RCV003917487

NM_176824.3(BBS7):c.728G>A (p.Cys243Tyr)

SNV
Germline

Chr4:121853077

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome
Bardet-Biedl syndrome 7

Criteria Provided
Conflicting Classifications

CA233521

rs_727503821

8 SubmittersRCV000152845 RCV001384254 RCV002250576

NM_024685.4(BBS10):c.1616C>T (p.Pro539Leu)

SNV
Germline

Chr12:76346369

Conflicting classifications of pathogenicity

not specified
Bardet-Biedl syndrome
Bardet-Biedl syndrome 10
Condition: not provided
Early onset severe obesity

Criteria Provided
Conflicting Classifications

CA179768

rs_35676114

15 SubmittersRCV000152825 RCV000270164 RCV000576464 RCV001706010 RCV006629085

NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)

SNV
Germline

Chr12:88125356

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Joubert syndrome 1
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Leber congenital amaurosis 10
Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis
Atypical hemolytic-uremic syndrome
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA179860

rs_188164241

16 SubmittersRCV000152980 RCV000658663 RCV000988890 RCV001084283 RCV001110571 RCV001110570 RCV001110567 RCV001110568 RCV001110569 RCV001275040 RCV002294046 RCV004815226

NM_153240.5(NPHP3):c.3550G>A (p.Ala1184Thr)

SNV
Germline

Chr3:132684574

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Nephronophthisis
Renal-hepatic-pancreatic dysplasia 1
NPHP3-related Meckel-like syndrome
Nephronophthisis 3
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA180240

rs_34391943

9 SubmittersRCV000153592 RCV000224286 RCV000226496 RCV000280342 RCV000404782 RCV001094788 RCV003224174

NM_198428.3(BBS9):c.1993C>T (p.Leu665Phe)

SNV
Germline

Chr7:33388022

Conflicting classifications of pathogenicity

not specified
Bardet-Biedl syndrome
Bardet-Biedl syndrome 9

Criteria Provided
Conflicting Classifications

CA179797

rs_116262072

6 SubmittersRCV000152847 RCV000463844 RCV002467603

NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr)

SNV
Germline

Chr12:88060951

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Meckel syndrome, type 4
Joubert syndrome 5
Leber congenital amaurosis
Intellectual disability

Criteria Provided
Conflicting Classifications

CA179856

rs_117852025

14 SubmittersRCV000152970 RCV000224947 RCV001082043 RCV001114081 RCV001114080 RCV001114077 RCV001114078 RCV001114079 RCV001272012 RCV001252445

NM_176824.3(BBS7):c.280A>T (p.Thr94Ser)

SNV
Germline

Chr4:121861565

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome
Bardet-Biedl syndrome 7

Criteria Provided
Conflicting Classifications

CA233523

rs_202102193

3 SubmittersRCV000152846 RCV000283074 RCV001094847

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_025114.4(CEP290):c.5055G>A (p.Ala1685=)

SNV
Germline

Chr12:88080353

Conflicting classifications of pathogenicity

Condition: not provided
Senior-Loken syndrome 6
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Joubert syndrome 5
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA233673

rs_73192874

4 SubmittersRCV000152976 RCV000291841 RCV000346891 RCV000344957 RCV000399776 RCV000400108 RCV001085341 RCV003888583

NM_006642.5(SDCCAG8):c.267T>C (p.Ser89=)

SNV
Germline

Chr1:243271024

Conflicting classifications of pathogenicity

not specified
Bardet-Biedl syndrome 16
Senior-Loken syndrome 7
Condition: not provided
Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Conflicting Classifications

CA234899

rs_148818431

4 SubmittersRCV000153921 RCV000275041 RCV000330149 RCV000723734 RCV001085093

NM_017777.4(MKS1):c.1601G>A (p.Arg534Gln)

SNV
Germline

Chr17:58206158

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 13
Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 1
Microcephaly
not specified
Bardet-Biedl syndrome 13
Meckel syndrome, type 1
Joubert syndrome 28
MKS1-related disorder

Criteria Provided
Conflicting Classifications

CA273756

rs_199910690

9 SubmittersRCV000161135 RCV000324288 RCV001082780 RCV001272920 RCV001252740 RCV001797645 RCV002467638 RCV004724951

NM_015910.7(WDPCP):c.1315G>A (p.Val439Ile)

SNV
Germline

Chr2:63404168

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 15
WDPCP-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA334733

rs_199676595

4 SubmittersRCV000168404 RCV001142953 RCV003937520 RCV005243143

NM_017777.4(MKS1):c.233T>G (p.Ile78Ser)

SNV
Germline

Chr17:58216694

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Bardet-Biedl syndrome 13
Meckel syndrome, type 1
Joubert syndrome 28
MKS1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA334638

rs_786204222

4 SubmittersRCV000168353 RCV000665745 RCV006261953 RCV006731817

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

SNV
Germline

Chr11:66515543

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA273912

rs_786204444

10 SubmittersRCV000169066 RCV000627244 RCV001272374 RCV003398862 RCV004815258

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

SNV
Germline

Chr11:66526753

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA274213

rs_768443448

14 SubmittersRCV000169362 RCV000984149 RCV001092071 RCV004742303

NM_024685.4(BBS10):c.1241T>C (p.Leu414Ser)

SNV
Germline

Chr12:76346744

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 10
Bardet-Biedl syndrome
BBS10-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274166

rs_786204575

7 SubmittersRCV000169317 RCV001244659 RCV003390883 RCV004589828

NM_031885.5(BBS2):c.508G>A (p.Asp170Asn)

SNV
Germline

Chr16:56510885

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome 2

Criteria Provided
Conflicting Classifications

CA235951

rs_786205498

2 SubmittersRCV000171247 RCV001329456

NM_017777.4(MKS1):c.417+1G>A

SNV
Germline

Chr17:58216087

Pathogenic/Likely pathogenic

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 1
Bardet-Biedl syndrome 13

Criteria Provided
Multiple Submitters
No Conflicts

CA235986

rs_756368560

4 SubmittersRCV000171264 RCV001063303 RCV001826869 RCV003474920

NM_001278293.3(ARL6):c.362G>A (p.Arg121His)

SNV
Germline

Chr3:97788002

Likely pathogenic

Condition: not provided
Autosomal recessive retinitis pigmentosa
Bardet-Biedl syndrome 3
Retinitis pigmentosa 55
Bardet-Biedl syndrome
Retinitis pigmentosa 55
Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 1
Retinitis pigmentosa 55

Criteria Provided
Multiple Submitters
No Conflicts

CA280069

rs_765715798

7 SubmittersRCV000171364 RCV001257839 RCV001852067 RCV002469042 RCV005623069 RCV005003523

NM_198428.3(BBS9):c.263C>A (p.Ser88Ter)

SNV
Germline

Chr7:33152851

Pathogenic

Condition: not provided
Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA236280

rs_749974697

2 SubmittersRCV000171406 RCV000256468

NM_152384.3(BBS5):c.532G>A (p.Gly178Arg)

SNV
Germline

Chr2:169493750

Likely pathogenic

Condition: not provided
Bardet-Biedl syndrome
Bardet-Biedl syndrome 5

Criteria Provided
Single Submitter

CA236417

rs_786205636

1 SubmittersRCV000171498 RCV000256439 RCV003984827

NM_015662.3(IFT172):c.4701C>A (p.His1567Gln)

SNV
Germline

Chr2:27446314

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 20
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
IFT172-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA199770

rs_786205855

3 SubmittersRCV002508142 RCV003765075 RCV005867991

NM_015662.3(IFT172):c.1525-1G>A

SNV
Germline

Chr2:27471096

Pathogenic/Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
IFT172-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA199772

rs_370540673

5 SubmittersRCV002492710 RCV002515241 RCV004562395 RCV004737264 RCV005600800

NM_015910.7(WDPCP):c.13T>C (p.Phe5Leu)

SNV
Germline

Chr2:63588259

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome
Inborn genetic diseases
WDPCP-related disorder
Heart defect - tongue hamartoma - polysyndactyly syndrome
Bardet-Biedl syndrome 15

Criteria Provided
Conflicting Classifications

CA238905

rs_768802269

5 SubmittersRCV000173453 RCV001247524 RCV002516587 RCV003407639 RCV005031702

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

SNV
Germline

Chr11:66510683

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA200595

rs_55848325

14 SubmittersRCV000173529 RCV000226235 RCV000709651 RCV003407641 RCV003891704

NM_033028.5(BBS4):c.24+8C>T

SNV
Germline

Chr15:72686259

Conflicting classifications of pathogenicity

not specified
Bardet-Biedl syndrome
Bardet-Biedl syndrome 4

Criteria Provided
Conflicting Classifications

CA238993

rs_200055760

6 SubmittersRCV000173543 RCV000336731 RCV001094445

NM_176824.3(BBS7):c.1037G>A (p.Arg346Gln)

SNV
Germline

Chr4:121847404

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome
Bardet-Biedl syndrome 7
not specified
BBS7-related disorder

Criteria Provided
Conflicting Classifications

CA239398

rs_370716101

5 SubmittersRCV000173926 RCV003221833 RCV003462274 RCV005417989 RCV004742307

NM_006642.5(SDCCAG8):c.1380G>C (p.Gln460His)

SNV
Germline

Chr1:243344238

Conflicting classifications of pathogenicity

Condition: not provided
Senior-Loken syndrome 7
Bardet-Biedl syndrome 16
SDCCAG8-related disorder

Criteria Provided
Conflicting Classifications

CA239877

rs_79762798

3 SubmittersRCV000174354 RCV001085070 RCV004539611

NM_017777.4(MKS1):c.1025-2A>C

SNV
Germline

Chr17:58208585

Pathogenic/Likely pathogenic

Condition: not provided
Joubert syndrome 28
Bardet-Biedl syndrome 13
Meckel syndrome, type 1
Bardet-Biedl syndrome 13
MKS1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA346858

rs_794727070

4 SubmittersRCV000174384 RCV000671535 RCV003474925 RCV004537366

NM_031885.5(BBS2):c.1422G>A (p.Ser474=)

SNV
Germline

Chr16:56499883

Conflicting classifications of pathogenicity

not specified
Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Bardet-Biedl syndrome 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA200970

rs_117033008

12 SubmittersRCV000174411 RCV000279525 RCV000709677 RCV001094291 RCV003884375

NM_198428.3(BBS9):c.1280C>T (p.Ala427Val)

SNV
Germline

Chr7:33344585

Conflicting classifications of pathogenicity

not specified
Bardet-Biedl syndrome
Condition: not provided
Bardet-Biedl syndrome 9
Melanoma
Malignant tumor of esophagus
Clear cell carcinoma of kidney
Gastric cancer
Thyroid cancer, nonmedullary, 1
Hepatocellular carcinoma

Criteria Provided
Conflicting Classifications

CA200975

rs_138072724

9 SubmittersRCV000174426 RCV000204910 RCV000515021 RCV001095289 RCV005889748 RCV005889744 RCV005889745 RCV005889746 RCV005889747 RCV005889743

NM_025114.4(CEP290):c.1522+6C>T

SNV
Germline

Chr12:88120108

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis 10
Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Meckel syndrome, type 4

Criteria Provided
Conflicting Classifications

CA201235

rs_148446546

10 SubmittersRCV000174953 RCV000835406 RCV001084413 RCV001112003 RCV001112004 RCV001112005 RCV001112006 RCV001112002

NM_017777.4(MKS1):c.1506G>A (p.Ser502=)

SNV
Germline

Chr17:58206365

Conflicting classifications of pathogenicity

Condition: not provided
Meckel syndrome, type 1
Bardet-Biedl syndrome 13
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA240920

rs_368535131

3 SubmittersRCV000175214 RCV000280084 RCV000374576 RCV001087215

NM_198428.3(BBS9):c.2105C>A (p.Thr702Asn)

SNV
Germline

Chr7:33388134

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome
not specified
BBS9-related disorder

Criteria Provided
Conflicting Classifications

CA241249

rs_149362446

5 SubmittersRCV000175493 RCV001087341 RCV003150969 RCV003907570

NM_012210.4(TRIM32):c.633T>C (p.Ala211=)

SNV
Germline

Chr9:116698375

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome
TRIM32-related disorder

Criteria Provided
Conflicting Classifications

CA241638

rs_753960738

3 SubmittersRCV000175845 RCV003522943 RCV003977434

NM_012210.4(TRIM32):c.1134C>T (p.Tyr378=)

SNV
Germline

Chr9:116698876

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bardet-Biedl syndrome
TRIM32-related disorder

Criteria Provided
Conflicting Classifications

CA241641

rs_776448126

4 SubmittersRCV000175846 RCV000724487 RCV002054072 RCV003937586

NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys)

SNV
Germline

Chr12:76346147

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome 10
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA241802

rs_575957641

10 SubmittersRCV000175947 RCV000671818 RCV002516694

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_198428.3(BBS9):c.2363C>T (p.Ser788Phe)

SNV
Germline

Chr7:33534018

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bardet-Biedl syndrome
Bardet-Biedl syndrome 9

Criteria Provided
Conflicting Classifications

CA242114

rs_61753526

7 SubmittersRCV000243461 RCV000723782 RCV001085388 RCV001165277

NM_015102.5(NPHP4):c.3454C>T (p.Pro1152Ser)

SNV
Germline

Chr1:5867758

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA242462

rs_560329867

3 SubmittersRCV000176491 RCV000862808 RCV003224190

NM_017777.4(MKS1):c.213C>G (p.Asp71Glu)

SNV
Germline

Chr17:58216714

Conflicting classifications of pathogenicity

not specified
Bardet-Biedl syndrome 13
Meckel syndrome, type 1
Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
MKS1-related disorder

Criteria Provided
Conflicting Classifications

CA346867

rs_142813109

15 SubmittersRCV000177294 RCV000351197 RCV000399365 RCV000514445 RCV001079449 RCV004528943

NM_033028.5(BBS4):c.137A>G (p.Lys46Arg)

SNV
Germline

Chr15:72709760

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
Bardet-Biedl syndrome 4

Criteria Provided
Conflicting Classifications

CA202441

rs_75295839

12 SubmittersRCV000177393 RCV000425800 RCV000709674 RCV001085083 RCV001119683

NM_144596.4(TTC8):c.267C>A (p.Arg89=)

SNV
Germline

Chr14:88840866

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome
not specified
Retinitis pigmentosa
Bardet-Biedl syndrome 8
TTC8-related disorder

Criteria Provided
Conflicting Classifications

CA243607

rs_200113889

6 SubmittersRCV000177429 RCV001078936 RCV001001279 RCV001117606 RCV001117607 RCV003907599

NM_144596.4(TTC8):c.284A>G (p.Lys95Arg)

SNV
Germline

Chr14:88840883

Conflicting classifications of pathogenicity

not specified
Bardet-Biedl syndrome
Retinitis pigmentosa
Bardet-Biedl syndrome 8
Condition: not provided

Criteria Provided
Conflicting Classifications

CA202465

rs_150880478

10 SubmittersRCV000177430 RCV000559336 RCV001117608 RCV001119197 RCV001706134

NM_025114.4(CEP290):c.3654T>C (p.Leu1218=)

SNV
Germline

Chr12:88089407

Conflicting classifications of pathogenicity

not specified
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
Joubert syndrome 5
Senior-Loken syndrome 6
Meckel syndrome, type 4
Leber congenital amaurosis 10
Condition: not provided
Leber congenital amaurosis
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA202523

rs_201838492

12 SubmittersRCV000177576 RCV000198308 RCV000300808 RCV000335768 RCV000348352 RCV000401126 RCV000400157 RCV001699223 RCV001826899 RCV004528944

NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter)

SNV
Germline

Chr12:88080226

Pathogenic/Likely pathogenic

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Leber congenital amaurosis 10
Leber congenital amaurosis
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA275233

rs_370119681

11 SubmittersRCV000523279 RCV001036300 RCV001376454 RCV001826904 RCV002222427 RCV003468864 RCV005003531 RCV004816287

NM_025114.4(CEP290):c.5322C>T (p.Leu1774=)

SNV
Germline

Chr12:88079134

Conflicting classifications of pathogenicity

not specified
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Joubert syndrome 5
Senior-Loken syndrome 6
Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Leber congenital amaurosis
Inborn genetic diseases
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA202689

rs_117370446

15 SubmittersRCV000178010 RCV000265423 RCV000268862 RCV000328615 RCV000320490 RCV000364677 RCV000712032 RCV001082773 RCV001832019 RCV003352794 RCV004528947

NM_031885.5(BBS2):c.525A>G (p.Gly175=)

SNV
Germline

Chr16:56510868

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome
Bardet-Biedl syndrome 2

Criteria Provided
Conflicting Classifications

CA245452

rs_34191306

3 SubmittersRCV000178373 RCV001083114 RCV001273915

NM_033028.5(BBS4):c.208A>G (p.Ile70Val)

SNV
Germline

Chr15:72712295

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome
Bardet-Biedl syndrome 4
BBS4-related disorder

Criteria Provided
Conflicting Classifications

CA245459

rs_142692981

5 SubmittersRCV000178378 RCV001080709 RCV001120611 RCV003977463

NM_025114.4(CEP290):c.343A>G (p.Asn115Asp)

SNV
Germline

Chr12:88136741

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
not specified
Meckel syndrome, type 4
Joubert syndrome 5
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Retinal dystrophy
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA246815

rs_140236736

8 SubmittersRCV000179537 RCV001085617 RCV001112630 RCV001112631 RCV001112632 RCV001112633 RCV001112634 RCV003488430 RCV003227695 RCV003888636 RCV004539683

NM_025114.4(CEP290):c.341G>A (p.Arg114His)

SNV
Germline

Chr12:88136743

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Leber congenital amaurosis
Joubert syndrome 5
CEP290-related disorder
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA246817

rs_150296134

13 SubmittersRCV000179538 RCV000724859 RCV001082749 RCV001275047 RCV001526756 RCV004537490 RCV005008108 RCV005305978

NM_006642.5(SDCCAG8):c.925G>A (p.Val309Ile)

SNV
Germline

Chr1:243308173

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome 16
Senior-Loken syndrome 7
SDCCAG8-related disorder

Criteria Provided
Conflicting Classifications

CA247688

rs_149359674

3 SubmittersRCV000180303 RCV001078537 RCV004537508

NM_176824.3(BBS7):c.865G>A (p.Val289Ile)

SNV
Germline

Chr4:121848913

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome
Inborn genetic diseases
BBS7-related disorder

Criteria Provided
Conflicting Classifications

CA248271

rs_200770952

4 SubmittersRCV000180708 RCV002054156 RCV002517766 RCV003407670

NM_015662.3(IFT172):c.112C>T (p.Arg38Ter)

SNV
Germline

Chr2:27485431

Pathogenic/Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Condition: not provided
IFT172-related disorder
Bardet-Biedl syndrome 20
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71

Criteria Provided
Multiple Submitters
No Conflicts

CA204566

rs_139021548

6 SubmittersRCV000190597 RCV001387370 RCV003488445 RCV004737295 RCV005016550

NM_031885.5(BBS2):c.98C>A (p.Ala33Asp)

SNV
Germline

Chr16:56519765

Conflicting classifications of pathogenicity

Retinitis pigmentosa 74
Bardet-Biedl syndrome 2
Bardet-Biedl syndrome
Retinitis pigmentosa
BBS2-related disorder

Criteria Provided
Conflicting Classifications

CA204968

rs_797045155

7 SubmittersRCV000190987 RCV000675055 RCV001380380 RCV001002878 RCV004539761

NM_031885.5(BBS2):c.401C>G (p.Pro134Arg)

SNV
Germline

Chr16:56511229

Pathogenic/Likely pathogenic

Retinitis pigmentosa 74
Bardet-Biedl syndrome 2
Bardet-Biedl syndrome
Retinitis pigmentosa
Retinal dystrophy
BBS2-related ciliopathy
Early onset severe obesity
Retinitis pigmentosa 40

Criteria Provided
Multiple Submitters
No Conflicts

CA204970

rs_376306240

11 SubmittersRCV000190988 RCV000675071 RCV001049931 RCV001002875 RCV001074319 RCV006694774 RCV006629093 RCV006707628

NM_006642.5(SDCCAG8):c.221-2A>G

SNV
Germline

Chr1:243270976

Pathogenic

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Multiple Submitters
No Conflicts

CA209406

rs_797045946

2 SubmittersRCV000194923 RCV000760977

NM_006642.5(SDCCAG8):c.481C>T (p.Gln161Ter)

SNV
Germline

Chr1:243286332

Pathogenic

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16
Senior-Loken syndrome 7
SDCCAG8-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA206745

rs_797045947

3 SubmittersRCV000193333 RCV001390072 RCV004530146

NM_006642.5(SDCCAG8):c.567G>A (p.Trp189Ter)

SNV
Germline

Chr1:243293111

Pathogenic/Likely pathogenic

Senior-Loken syndrome 7
Bardet-Biedl syndrome
Bardet-Biedl syndrome 16
Senior-Loken syndrome 7
SDCCAG8-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA207867

rs_797045948

5 SubmittersRCV000194004 RCV001731515 RCV002517977 RCV004530147 RCV004767133

NM_006642.5(SDCCAG8):c.1501G>C (p.Asp501His)

SNV
Germline

Chr1:243378748

Conflicting classifications of pathogenicity

not specified
Bardet-Biedl syndrome 16
Senior-Loken syndrome 7
Condition: not provided
SDCCAG8-related disorder

Criteria Provided
Conflicting Classifications

CA207762

rs_150646039

5 SubmittersRCV000193940 RCV000873932 RCV001558681 RCV004541252

NM_017777.4(MKS1):c.1436G>A (p.Arg479His)

SNV
Germline

Chr17:58206519

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 1
Bardet-Biedl syndrome 13

Criteria Provided
Conflicting Classifications

CA206807

rs_111315726

11 SubmittersRCV000193368 RCV000224657 RCV001082508 RCV001128313 RCV001128312

NM_017777.4(MKS1):c.844C>T (p.Arg282Ter)

SNV
Germline

Chr17:58212996

Pathogenic/Likely pathogenic

Meckel syndrome, type 1
Bardet-Biedl syndrome 13
Meckel syndrome, type 1
Joubert syndrome 28
Bardet-Biedl syndrome 13
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA347417

rs_797045706

6 SubmittersRCV000194216 RCV000672938 RCV003474946 RCV003765230

NM_025114.4(CEP290):c.4243G>T (p.Glu1415Ter)

SNV
Germline

Chr12:88086450

Likely pathogenic

Bardet-Biedl syndrome
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Leber congenital amaurosis

Criteria Provided
Single Submitter

CA347348

rs_797044604

2 SubmittersRCV000192446 RCV006640445

NM_015910.7(WDPCP):c.985G>A (p.Val329Met)

SNV
Germline

Chr2:63404498

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Condition: not provided
Bardet-Biedl syndrome 15

Criteria Provided
Conflicting Classifications

CA338533

rs_199959383

3 SubmittersRCV000199301 RCV000224332 RCV001094642

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_198428.3(BBS9):c.1370T>A (p.Leu457Ter)

SNV
Germline

Chr7:33349108

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 9

Criteria Provided
Multiple Submitters
No Conflicts

CA338649

rs_762511626

2 SubmittersRCV000199446 RCV003462313

NM_198428.3(BBS9):c.1423G>T (p.Glu475Ter)

SNV
Germline

Chr7:33349161

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 9
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA335980

rs_863224534

4 SubmittersRCV000195839 RCV002485317 RCV006731840

NM_198428.3(BBS9):c.2646C>A (p.Leu882=)

SNV
Germline

Chr7:33605208

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 9
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA335939

rs_61753527

6 SubmittersRCV000195790 RCV001095142 RCV001818481 RCV005243157

NM_024685.4(BBS10):c.531C>A (p.Tyr177Ter)

SNV
Germline

Chr12:76347454

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 10

Criteria Provided
Multiple Submitters
No Conflicts

CA336530

rs_863224522

5 SubmittersRCV000196568 RCV000409505

NM_144596.4(TTC8):c.1077C>T (p.Asn359=)

SNV
Germline

Chr14:88871576

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
not specified
Retinitis pigmentosa
Bardet-Biedl syndrome 8
Condition: not provided

Criteria Provided
Conflicting Classifications

CA339465

rs_150896551

7 SubmittersRCV000200657 RCV000249386 RCV001116280 RCV001117715 RCV001579358

NM_144596.4(TTC8):c.1464G>C (p.Ala488=)

SNV
Germline

Chr14:88877326

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
not specified
Retinitis pigmentosa
Bardet-Biedl syndrome 8
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA336017

rs_142073418

8 SubmittersRCV000195887 RCV000248272 RCV001121289 RCV001119277 RCV001795322 RCV004816339

NM_031885.5(BBS2):c.1523A>C (p.Gln508Pro)

SNV
Germline

Chr16:56499782

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 2
not specified
Condition: not provided
BBS2-related disorder

Criteria Provided
Conflicting Classifications

CA338335

rs_115328064

9 SubmittersRCV000199008 RCV000665496 RCV001818493 RCV001729451 RCV004530199

NM_170784.3(MKKS):c.1553G>A (p.Arg518His)

SNV
Germline

Chr20:10405407

Conflicting classifications of pathogenicity

Condition: not provided
McKusick-Kaufman syndrome
Bardet-Biedl syndrome 6
McKusick-Kaufman syndrome
Bardet-Biedl syndrome
not specified
MKKS-related disorder

Criteria Provided
Conflicting Classifications

CA338007

rs_149051148

10 SubmittersRCV000782192 RCV000990283 RCV001137687 RCV001087733 RCV001699063 RCV004528986

NM_176824.3(BBS7):c.949C>G (p.Leu317Val)

SNV
Germline

Chr4:121847492

Likely pathogenic

Bardet-Biedl syndrome 7
Retinal dystrophy

Criteria Provided
Single Submitter

CA351663

rs_869025207

2 SubmittersRCV000207525 RCV004816342

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_033028.5(BBS4):c.406-2A>G

SNV
Germline

Chr15:72722792

Pathogenic

Bardet-Biedl syndrome 4

No Assertion Criteria Provided

CA065314

rs_113994191

1 SubmittersRCV000207846

NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys)

SNV
Germline

Chr8:93786255

Conflicting classifications of pathogenicity

Joubert syndrome 6
Oligohydramnios
Renal cyst
Joubert syndrome
Inborn genetic diseases
14 conditions
Joubert syndrome 6
COACH syndrome 1
Meckel syndrome, type 3
Bardet-Biedl syndrome 14
Nephronophthisis 11
Meckel-Gruber syndrome
Joubert syndrome
6 conditions
Meckel syndrome, type 3

Criteria Provided
Conflicting Classifications

CA277817

rs_752362727

6 SubmittersRCV000201784 RCV000414925 RCV000623940 RCV000627003 RCV000763609 RCV001853244 RCV005042432 RCV003997037

NM_025114.4(CEP290):c.6939C>A (p.Tyr2313Ter)

SNV
Unknown

Chr12:88055597

Pathogenic

Joubert syndrome 5
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA279539

rs_863225187

2 SubmittersRCV000201753 RCV004567442

NM_025114.4(CEP290):c.5932C>T (p.Arg1978Ter)

SNV
Germline

Chr12:88071373

Pathogenic

Joubert syndrome 5
Condition: not provided
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Retinal dystrophy
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA277735

rs_371525247

9 SubmittersRCV000201627 RCV000598256 RCV001382359 RCV003468924 RCV004798806 RCV004816348 RCV005003554 RCV006640458

NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter)

SNV
Germline

Chr12:88079112

Pathogenic

Joubert syndrome 5
Condition: not provided
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Bardet-Biedl syndrome 14
CEP290-related disorder
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA277810

rs_575767207

10 SubmittersRCV000201766 RCV000598977 RCV000763310 RCV001058542 RCV003468923 RCV004732784 RCV005361163 RCV005623073 RCV006640457

NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter)

SNV
Germline

Chr12:88083161

Pathogenic

Joubert syndrome 5
Blindness
Global developmental delay
Condition: not provided
Occipital encephalocele
Cystic renal dysplasia
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Joubert syndrome 5
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Leber congenital amaurosis
Inborn genetic diseases
Bardet-Biedl syndrome 14
CEP290-related disorder
Retinal dystrophy
Autosomal recessive CEP290-related disorders
CEP290-related ciliopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA277760

rs_376493409

15 SubmittersRCV000201672 RCV000414892 RCV000493605 RCV000626966 RCV000763311 RCV000806654 RCV001271568 RCV002519581 RCV003462354 RCV004732783 RCV004816347 RCV006695574 RCV006741247

NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter)

SNV
Germline

Chr12:88084768

Pathogenic

Joubert syndrome 5
Condition: not provided
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Leber congenital amaurosis
Leber congenital amaurosis 10
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA277724

rs_749439750

14 SubmittersRCV000201597 RCV000521437 RCV001036850 RCV001828040 RCV002250594 RCV002485329 RCV003155122 RCV003468926 RCV004816349

NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter)

SNV
Germline

Chr12:88086083

Pathogenic

Joubert syndrome 5
Meckel syndrome, type 4
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Occipital encephalocele
Condition: not provided
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
CEP290-related disorder
CEP290-related ciliopathy

Reviewed By Expert Panel

CA277705

rs_539400286

18 SubmittersRCV000201563 RCV000502726 RCV000763314 RCV001002937 RCV000816913 RCV001030764 RCV001529566 RCV001589085 RCV003468919 RCV004732782 RCV006731843

NM_025114.4(CEP290):c.1623+1G>A

SNV
Germline

Chr12:88118642

Pathogenic

Joubert syndrome 5
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis 10
Retinal disorder
Leber congenital amaurosis
Autosomal recessive CEP290-related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA279529

rs_863225186

9 SubmittersRCV000201746 RCV001044809 RCV001808559 RCV003468922 RCV005008141 RCV005860033 RCV006635321 RCV006640456 RCV006695573

NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu)

SNV
Germline

Chr17:58207959

Pathogenic/Likely pathogenic

Joubert syndrome
Condition: not provided
Bardet-Biedl syndrome 13
Meckel syndrome, type 1
Joubert syndrome 28
Meckel-Gruber syndrome
Joubert syndrome
MKS1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA210326

rs_773684291

7 SubmittersRCV000201754 RCV000479872 RCV000984285 RCV000984284 RCV000984286 RCV001853235 RCV004732785

NM_017777.4(MKS1):c.493C>T (p.Arg165Cys)

SNV
Germline

Chr17:58214763

Conflicting classifications of pathogenicity

Joubert syndrome
Bardet-Biedl syndrome 13
Meckel syndrome, type 1
Joubert syndrome 28
Bardet-Biedl syndrome 13
Meckel syndrome, type 1
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA210278

rs_779953982

5 SubmittersRCV000201596 RCV000675062 RCV001123799 RCV001123798 RCV002517312

NM_015910.7(WDPCP):c.176T>A (p.Ile59Asn)

SNV
Germline

Chr2:63487479

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 15
Heart defect - tongue hamartoma - polysyndactyly syndrome
Bardet-Biedl syndrome 15
Condition: not provided
WDPCP-related disorder

Criteria Provided
Conflicting Classifications

CA350616

rs_202196322

10 SubmittersRCV000206601 RCV000765695 RCV001094650 RCV001706202 RCV003917847

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_001374353.1(GLI2):c.1808C>T (p.Thr603Met)

SNV
Germline

Chr2:120984646

Conflicting classifications of pathogenicity

Anophthalmia-microphthalmia syndrome
Holoprosencephaly 9
not specified
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
Holoprosencephaly 9
Condition: not provided
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA071626

rs_142775128

11 SubmittersRCV000207367 RCV000263942 RCV000309933 RCV000873686 RCV001705180 RCV003224225

NM_024685.4(BBS10):c.145C>T (p.Arg49Trp)

SNV
Germline

Chr12:76348214

Pathogenic/Likely pathogenic

Inborn genetic diseases
Bardet-Biedl syndrome 10
6 conditions
Bardet-Biedl syndrome
Retinal dystrophy
Condition: not provided
BBS10-related disorder
Bardet-Biedl syndrome 1
BBS10-related ciliopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA358165

rs_768933093

18 SubmittersRCV000210662 RCV000576728 RCV000626963 RCV000799037 RCV001075496 RCV001291592 RCV003407735 RCV003228914 RCV006648387

NM_017777.4(MKS1):c.508C>T (p.Arg170Ter)

SNV
Germline

Chr17:58214748

Pathogenic/Likely pathogenic

Condition: not provided
Bardet-Biedl syndrome 13
Meckel syndrome, type 1
Joubert syndrome 28
Meckel-Gruber syndrome
Joubert syndrome
Bardet-Biedl syndrome 13
MKS1-related disorder
Meckel syndrome, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA8669502

rs_756853299

7 SubmittersRCV000224251 RCV000668874 RCV001049084 RCV003475049 RCV004732799 RCV006640487

NM_024685.4(BBS10):c.765G>A (p.Met255Ile)

SNV
Germline

Chr12:76347220

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome 10
Bardet-Biedl syndrome 1
Bardet-Biedl syndrome
not specified
BBS10-related disorder

Criteria Provided
Conflicting Classifications

CA6694290

rs_139658279

14 SubmittersRCV000224072 RCV000667212 RCV000625184 RCV000801717 RCV001706242 RCV003417800

NM_025114.4(CEP290):c.251-11T>A

SNV
Germline

Chr12:88139202

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Joubert syndrome 5
Meckel syndrome, type 4
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
CEP290-related disorder
Thymoma

Criteria Provided
Conflicting Classifications

CA6712862

rs_200666995

8 SubmittersRCV000224686 RCV000244417 RCV001109952 RCV001109954 RCV001109953 RCV001109955 RCV001109951 RCV001518146 RCV004529386 RCV005895161

NM_031885.5(BBS2):c.805-20A>G

SNV
Germline

Chr16:56502828

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8065911

rs_41280892

9 SubmittersRCV000224448 RCV000242904 RCV000709638 RCV001081960

NM_017777.4(MKS1):c.368G>A (p.Arg123Gln)

SNV
Germline

Chr17:58216137

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Meckel-Gruber syndrome
Joubert syndrome
Bardet-Biedl syndrome 13
Meckel syndrome, type 1
Joubert syndrome 28
Bardet-Biedl syndrome 13
Meckel syndrome, type 1
MKS1-related disorder

Criteria Provided
Conflicting Classifications

CA8669556

rs_202112856

11 SubmittersRCV000224664 RCV000318559 RCV000695608 RCV000765373 RCV001126448 RCV001126449 RCV004541364

NM_025114.4(CEP290):c.1781T>A (p.Leu594Ter)

SNV
Germline

Chr12:88117076

Pathogenic

Retinal dystrophy
Condition: not provided
Leber congenital amaurosis
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
CEP290-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA6712475

rs_371496675

7 SubmittersRCV000225634 RCV000522611 RCV001274126 RCV001389936 RCV002500754 RCV003463626 RCV004532829

NM_025114.4(CEP290):c.297+1G>T

SNV
Germline

Chr12:88139144

Pathogenic

Retinal dystrophy
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Condition: not provided
Leber congenital amaurosis
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5
CEP290-related ciliopathy

Reviewed By Expert Panel

CA10581686

rs_878853360

8 SubmittersRCV000225517 RCV001223284 RCV001782716 RCV001833239 RCV003155133 RCV003469116 RCV005003571 RCV006731861

NM_033028.5(BBS4):c.712-1G>A

SNV
Germline

Chr15:72731304

Pathogenic/Likely pathogenic

Retinal dystrophy
Bardet-Biedl syndrome
Bardet-Biedl syndrome 4
BBS4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA7646750

rs_377031435

7 SubmittersRCV000225493 RCV000638346 RCV000778446 RCV003937879

NM_015102.5(NPHP4):c.2219G>A (p.Arg740His)

SNV
Germline

Chr1:5890953

Conflicting classifications of pathogenicity

Nephronophthisis
not specified
Senior-Loken syndrome 4
Nephronophthisis 4
Atypical hemolytic-uremic syndrome
Bardet-Biedl syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA554238

rs_34248917

9 SubmittersRCV000233672 RCV000248287 RCV000364078 RCV001093858 RCV002294087 RCV003224236 RCV004713425

NM_198428.3(BBS9):c.2336T>A (p.Leu779Gln)

SNV
Germline

Chr7:33533991

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome
not specified

Criteria Provided
Conflicting Classifications

CA4214668

rs_142434516

4 SubmittersRCV000514762 RCV001086797 RCV003151001

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_025114.4(CEP290):c.6870T>C (p.Asn2290=)

SNV
Germline

Chr12:88055666

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Joubert syndrome 5
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6711411

rs_572443869

3 SubmittersRCV000226860 RCV001109945 RCV001109947 RCV001109944 RCV001109946 RCV001109948 RCV004725118

NM_025114.4(CEP290):c.4938A>G (p.Lys1646=)

SNV
Germline

Chr12:88083105

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6711827

rs_371582975

4 SubmittersRCV000225844 RCV000763863 RCV001273065 RCV004529415

NM_025114.4(CEP290):c.2551G>A (p.Val851Ile)

SNV
Germline

Chr12:88107031

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis
Condition: not provided
Inborn genetic diseases
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6712316

rs_764963626

9 SubmittersRCV000228050 RCV000763866 RCV001271583 RCV002274949 RCV002518359 RCV003227727 RCV004529413

NM_017777.4(MKS1):c.1498A>G (p.Met500Val)

SNV
Germline

Chr17:58206373

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 13
Meckel syndrome, type 1
Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Inborn genetic diseases
MKS1-related disorder
Meckel syndrome, type 1
Bardet-Biedl syndrome 13
Joubert syndrome 28

Criteria Provided
Conflicting Classifications

CA8669097

rs_144635826

7 SubmittersRCV000316438 RCV000380158 RCV000513283 RCV001084685 RCV002519801 RCV004529411 RCV005396816

NM_017777.4(MKS1):c.544G>A (p.Val182Ile)

SNV
Germline

Chr17:58214359

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Condition: not provided
Bardet-Biedl syndrome 13
Meckel syndrome, type 1
Joubert syndrome 28
Bardet-Biedl syndrome 13
Meckel syndrome, type 1
not specified
Inborn genetic diseases
MKS1-related disorder

Criteria Provided
Conflicting Classifications

CA8669471

rs_200185068

9 SubmittersRCV000226628 RCV000728102 RCV000765372 RCV001122692 RCV001122693 RCV001820754 RCV002518354 RCV004532953

NM_025103.4(IFT74):c.1685-1G>T

SNV
Germline

Chr9:27062617

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 22
Condition: not provided
IFT74-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA5015766

rs_200699377

6 SubmittersRCV000240867 RCV002518558 RCV003409371

NM_017777.4(MKS1):c.1491-2A>G

SNV
Germline

Chr17:58206382

Likely pathogenic

Joubert syndrome 28
Bardet-Biedl syndrome 13
Meckel syndrome, type 1
Joubert syndrome 28
Meckel syndrome, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10586693

rs_886038203

3 SubmittersRCV000241543 RCV005025397 RCV006640515

NM_006642.5(SDCCAG8):c.547-4T>G

SNV
Germline

Chr1:243293087

Conflicting classifications of pathogenicity

not specified
Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Conflicting Classifications

CA1483344

rs_12080579

3 SubmittersRCV000242044 RCV001459481

NM_006642.5(SDCCAG8):c.964G>A (p.Val322Ile)

SNV
Germline

Chr1:243316789

Conflicting classifications of pathogenicity

not specified
Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Conflicting Classifications

CA1483504

rs_6672843

3 SubmittersRCV000242555 RCV001042143

NM_015910.7(WDPCP):c.1788C>T (p.Asp596=)

SNV
Germline

Chr2:63313272

Conflicting classifications of pathogenicity

not specified
Bardet-Biedl syndrome 15
Condition: not provided
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA1682114

rs_185980830

4 SubmittersRCV000247346 RCV000283412 RCV000731125 RCV001444306

NM_012210.4(TRIM32):c.770C>G (p.Thr257Arg)

SNV
Germline

Chr9:116698512

Conflicting classifications of pathogenicity

not specified
Sarcotubular myopathy
Bardet-Biedl syndrome
Bardet-Biedl syndrome 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5211042

rs_3747834

6 SubmittersRCV000247857 RCV000310268 RCV000364969 RCV001095303 RCV001706347

NM_012210.4(TRIM32):c.1710G>A (p.Ser570=)

SNV
Germline

Chr9:116699452

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bardet-Biedl syndrome
Sarcotubular myopathy
Bardet-Biedl syndrome 11

Criteria Provided
Conflicting Classifications

CA5211198

rs_555217187

6 SubmittersRCV000243103 RCV000726537 RCV001229040 RCV006713361

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_025114.4(CEP290):c.5506A>G (p.Ile1836Val)

SNV
Germline

Chr12:88077777

Conflicting classifications of pathogenicity

not specified
Bardet-Biedl syndrome 14
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis
Hepatocellular carcinoma

Criteria Provided
Conflicting Classifications

CA6711707

rs_11104729

12 SubmittersRCV000246283 RCV000297940 RCV000338834 RCV000342377 RCV000391752 RCV000402056 RCV000514061 RCV001084053 RCV001828148 RCV005894212

NM_025114.4(CEP290):c.4806G>A (p.Thr1602=)

SNV
Germline

Chr12:88083853

Conflicting classifications of pathogenicity

not specified
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Condition: not provided
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA6711863

rs_201614215

8 SubmittersRCV000243671 RCV000283968 RCV000328558 RCV000270848 RCV000338967 RCV000383188 RCV000860688 RCV001546981 RCV001833282

NM_025114.4(CEP290):c.1669C>T (p.Arg557Cys)

SNV
Germline

Chr12:88118525

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 5
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6712494

rs_561018129

5 SubmittersRCV000249364 RCV001195819 RCV001241555 RCV005008220 RCV005318354

NM_025114.4(CEP290):c.1298A>G (p.Asp433Gly)

SNV
Germline

Chr12:88121058

Conflicting classifications of pathogenicity

not specified
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
Joubert syndrome 5
Senior-Loken syndrome 6
Meckel syndrome, type 4
Leber congenital amaurosis 10
Leber congenital amaurosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6712583

rs_200211587

9 SubmittersRCV000244107 RCV000860381 RCV001109774 RCV001113800 RCV001113801 RCV001113802 RCV001113799 RCV001275038 RCV001311004

NM_144596.4(TTC8):c.-25G>A

SNV
Germline

Chr14:88824683

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 8
Retinitis pigmentosa
TTC8-related disorder

Criteria Provided
Conflicting Classifications

CA7302283

rs_7145692

2 SubmittersRCV000270079 RCV000362261 RCV003891984

NM_144596.4(TTC8):c.194A>G (p.Asp65Gly)

SNV
Germline

Chr14:88839501

Conflicting classifications of pathogenicity

not specified
Bardet-Biedl syndrome
Bardet-Biedl syndrome 8
Retinitis pigmentosa
Uterine corpus endometrial carcinoma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7302389

rs_114557412

9 SubmittersRCV000253058 RCV000470558 RCV001117604 RCV001117605 RCV005894290 RCV006445628

NM_144596.4(TTC8):c.669G>A (p.Lys223=)

SNV
Germline

Chr14:88853015

Conflicting classifications of pathogenicity

not specified
Bardet-Biedl syndrome
Retinitis pigmentosa
Bardet-Biedl syndrome 8
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7302555

rs_141304350

6 SubmittersRCV000245276 RCV000316005 RCV000372849 RCV001094457 RCV001531819

NM_144596.4(TTC8):c.1401G>A (p.Pro467=)

SNV
Germline

Chr14:88875079

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa
Bardet-Biedl syndrome
Bardet-Biedl syndrome 8
TTC8-related disorder

Criteria Provided
Conflicting Classifications

CA7302749

rs_114064158

4 SubmittersRCV000254174 RCV000307936 RCV000341748 RCV001094321 RCV003891985

NM_031885.5(BBS2):c.367A>G (p.Ile123Val)

SNV
Germline

Chr16:56511263

Conflicting classifications of pathogenicity

not specified
Bardet-Biedl syndrome
Bardet-Biedl syndrome 2
Bardet-Biedl syndrome 1
Retinitis pigmentosa 74
Condition: not provided
Retinal dystrophy
Early onset severe obesity

Criteria Provided
Conflicting Classifications

CA8066062

rs_11373

14 SubmittersRCV000241605 RCV000261972 RCV000576482 RCV000709672 RCV001526785 RCV001706364 RCV003888665 RCV006629118

NM_017777.4(MKS1):c.1014G>A (p.Leu338=)

SNV
Germline

Chr17:58210669

Conflicting classifications of pathogenicity

not specified
Meckel syndrome, type 1
Bardet-Biedl syndrome 13
Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8669311

rs_201998680

6 SubmittersRCV000251480 RCV000371335 RCV000392760 RCV000863475 RCV001561974

NM_017777.4(MKS1):c.515+12C>T

SNV
Germline

Chr17:58214729

Conflicting classifications of pathogenicity

not specified
Bardet-Biedl syndrome 13
Meckel syndrome, type 1
Joubert syndrome
Meckel-Gruber syndrome
Gastric cancer
Sarcoma

Criteria Provided
Conflicting Classifications

CA8669498

rs_372527189

5 SubmittersRCV000248513 RCV001122697 RCV001122696 RCV001520944 RCV005894019 RCV005894018

NM_198428.3(BBS9):c.1759C>T (p.Arg587Ter)

SNV
Germline

Chr7:33367832

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 9
Bardet-Biedl syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10588819

rs_746797123

5 SubmittersRCV000256188 RCV002518770 RCV004696894

NM_198428.3(BBS9):c.785T>C (p.Val262Ala)

SNV
Germline

Chr7:33273094

Likely pathogenic

Bardet-Biedl syndrome 9

No Assertion Criteria Provided

CA10588927

rs_886039875

1 SubmittersRCV000256397

NM_014408.5(TRAPPC3):c.184C>T (p.Arg62Trp)

SNV
Germline

Chr1:36139776

Likely pathogenic

Bardet-Biedl syndrome

No Assertion Criteria Provided

CA765333

rs_751375244

1 SubmittersRCV000256478

NM_198428.3(BBS9):c.223C>T (p.Arg75Ter)

SNV
Germline

Chr7:33152811

Pathogenic

Bardet-Biedl syndrome
Retinal vascular dystrophy
BBS9-related disorder
Bardet-Biedl syndrome 9

Criteria Provided
Multiple Submitters
No Conflicts

CA4213903

rs_775081992

6 SubmittersRCV000256453 RCV000787795 RCV003409389 RCV003463723

NM_198428.3(BBS9):c.2115+1G>A

SNV
Germline

Chr7:33388145

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA10588964

rs_886039801

2 SubmittersRCV000256470

NM_033028.5(BBS4):c.172C>T (p.Gln58Ter)

SNV
Germline

Chr15:72712259

Pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 4

Criteria Provided
Single Submitter

CA10588975

rs_886039802

2 SubmittersRCV000256420 RCV003463722

NM_031885.5(BBS2):c.806T>G (p.Val269Gly)

SNV
Germline

Chr16:56502807

Likely pathogenic

Bardet-Biedl syndrome

No Assertion Criteria Provided

CA10588977

rs_886039797

1 SubmittersRCV000256466

NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter)

SNV
Germline

Chr12:88114536

Pathogenic

Condition: not provided
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Retinal dystrophy
Joubert syndrome 5
Leber congenital amaurosis
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA6712427

rs_780225183

8 SubmittersRCV000313260 RCV000636991 RCV001075417 RCV001199213 RCV001833301 RCV002500965 RCV003463734

NM_033028.5(BBS4):c.1106+2T>A

SNV
Germline

Chr15:72735184

Pathogenic/Likely pathogenic

Condition: not provided
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10603266

rs_886041464

3 SubmittersRCV000344104 RCV000787534

NM_012210.4(TRIM32):c.339G>C (p.Arg113=)

SNV
Germline

Chr9:116698081

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome
TRIM32-related disorder

Criteria Provided
Conflicting Classifications

CA5210950

rs_150477945

3 SubmittersRCV000262418 RCV002059068 RCV003939932

NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr)

SNV
Germline

Chr17:58207143

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome
Meckel-Gruber syndrome
Joubert syndrome
Bardet-Biedl syndrome 13
Meckel syndrome, type 1
Joubert syndrome 28
not specified
MKS1-related disorder
Optic atrophy
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA8669161

rs_200865108

13 SubmittersRCV000280753 RCV001003078 RCV001087577 RCV001122598 RCV001128316 RCV001578757 RCV001820804 RCV004542971 RCV004816474 RCV004816473

NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter)

SNV
Germline

Chr12:88106770

Pathogenic

Condition: not provided
Cone-rod dystrophy
Joubert syndrome 1
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
CEP290-related disorder
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
Retinal dystrophy
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA10603872

rs_886042153

13 SubmittersRCV000382757 RCV000787815 RCV000988885 RCV001380938 RCV002222465 RCV002479997 RCV003447521 RCV003469220 RCV004816477 RCV006640534

NM_017777.4(MKS1):c.118C>T (p.His40Tyr)

SNV
Germline

Chr17:58218692

Conflicting classifications of pathogenicity

Condition: not provided
Meckel syndrome, type 1
Bardet-Biedl syndrome 13
Joubert syndrome 28
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 1
not specified
MKS1-related disorder

Criteria Provided
Conflicting Classifications

CA8669639

rs_199832333

9 SubmittersRCV000724912 RCV000765374 RCV001062255 RCV001274930 RCV001820805 RCV004535260

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_025114.4(CEP290):c.181-2A>G

SNV
Germline

Chr12:88139566

Pathogenic/Likely pathogenic

Condition: not provided
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA10604124

rs_886042359

5 SubmittersRCV000262913 RCV001859558 RCV003469222 RCV005008234 RCV006640537

NM_025114.4(CEP290):c.5803G>T (p.Glu1935Ter)

SNV
Germline

Chr12:88071833

Pathogenic/Likely pathogenic

Condition: not provided
Leber congenital amaurosis
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14
CEP290-related disorder
Thyroid cancer, nonmedullary, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10604125

rs_886042360

8 SubmittersRCV000593831 RCV001199656 RCV001384490 RCV003469223 RCV004732816 RCV005895577

NM_025114.4(CEP290):c.4476A>G (p.Glu1492=)

SNV
Germline

Chr12:88084814

Conflicting classifications of pathogenicity

not specified
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel syndrome, type 4
Senior-Loken syndrome 6
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6711925

rs_181248369

4 SubmittersRCV000276958 RCV000863632 RCV001113144 RCV001113145 RCV001113143 RCV001114512 RCV001114513 RCV001697702

NM_012210.4(TRIM32):c.201T>C (p.Ile67=)

SNV
Germline

Chr9:116697943

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome
TRIM32-related disorder

Criteria Provided
Conflicting Classifications

CA5210919

rs_780799984

4 SubmittersRCV000273497 RCV001086454 RCV003939960

NM_012210.4(TRIM32):c.319C>T (p.Leu107=)

SNV
Germline

Chr9:116698061

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome
TRIM32-related disorder

Criteria Provided
Conflicting Classifications

CA10604198

rs_886042410

3 SubmittersRCV000264183 RCV002059110 RCV003947849

NM_012210.4(TRIM32):c.370C>T (p.Arg124Trp)

SNV
Germline

Chr9:116698112

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 11
Sarcotubular myopathy
Condition: not provided
Bardet-Biedl syndrome
TRIM32-related disorder

Criteria Provided
Conflicting Classifications

CA5210955

rs_572052810

8 SubmittersRCV000281057 RCV000336149 RCV000725279 RCV001516086 RCV003939975

NM_031885.5(BBS2):c.1380C>T (p.Phe460=)

SNV
Germline

Chr16:56500871

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome
Bardet-Biedl syndrome 2

Criteria Provided
Conflicting Classifications

CA8065757

rs_141046144

5 SubmittersRCV000325399 RCV001081449 RCV001116873

NM_024685.4(BBS10):c.197+1G>T

SNV
Germline

Chr12:76348161

Pathogenic/Likely pathogenic

Condition: not provided
Bardet-Biedl syndrome 10
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10604614

rs_886042729

7 SubmittersRCV000276223 RCV000984152 RCV001859589

NM_012210.4(TRIM32):c.6T>G (p.Ala2=)

SNV
Germline

Chr9:116697748

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome
not specified

Criteria Provided
Conflicting Classifications

CA5210884

rs_141352486

5 SubmittersRCV000725427 RCV001088595 RCV003151008

NM_033028.5(BBS4):c.1450+10T>C

SNV
Germline

Chr15:72736973

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA10604758

rs_886042845

2 SubmittersRCV000403877 RCV002519147

NM_006642.5(SDCCAG8):c.597C>A (p.Gly199=)

SNV
Germline

Chr1:243293141

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome 16
Senior-Loken syndrome 7
Bardet-Biedl syndrome 16
Senior-Loken syndrome 7
SDCCAG8-related disorder

Criteria Provided
Conflicting Classifications

CA1483357

rs_143407309

6 SubmittersRCV000404550 RCV001101445 RCV001087041 RCV001101444 RCV004535320

NM_031885.5(BBS2):c.1864C>T (p.Arg622Ter)

SNV
Germline

Chr16:56497013

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 2
Condition: not provided
Bardet-Biedl syndrome
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74

Criteria Provided
Multiple Submitters
No Conflicts

CA8065604

rs_201196733

9 SubmittersRCV000335732 RCV000424669 RCV000531316 RCV002502120

NM_012210.4(TRIM32):c.1223G>A (p.Arg408His)

SNV
Germline

Chr9:116698965

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome
TRIM32-related disorder
Sarcotubular myopathy
Bardet-Biedl syndrome 11

Criteria Provided
Conflicting Classifications

CA5211121

rs_183136193

8 SubmittersRCV000343347 RCV000638371 RCV003417895 RCV006713383

NM_012210.4(TRIM32):c.1140C>T (p.Thr380=)

SNV
Germline

Chr9:116698882

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome
TRIM32-related disorder

Criteria Provided
Conflicting Classifications

CA5211108

rs_142715198

3 SubmittersRCV000366722 RCV000554974 RCV003920090

NM_012210.4(TRIM32):c.467T>C (p.Leu156Pro)

SNV
Germline

Chr9:116698209

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome
TRIM32-related disorder
Autosomal recessive limb-girdle muscular dystrophy
Sarcotubular myopathy
Bardet-Biedl syndrome 11

Criteria Provided
Conflicting Classifications

CA5210987

rs_145907585

6 SubmittersRCV000408167 RCV001038537 RCV003401251 RCV005418046 RCV006713384

NM_031885.5(BBS2):c.118G>T (p.Val40Phe)

SNV
Germline

Chr16:56514680

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 2
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 74
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA10605056

rs_886043059

8 SubmittersRCV000305383 RCV000725618 RCV001075302 RCV002250616 RCV002519177

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_031885.5(BBS2):c.1953T>C (p.Asn651=)

SNV
Germline

Chr16:56485696

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome
Bardet-Biedl syndrome 2

Criteria Provided
Conflicting Classifications

CA8065568

rs_200621431

3 SubmittersRCV000261769 RCV001239950 RCV001833351

NM_198428.3(BBS9):c.1308T>C (p.Leu436=)

SNV
Germline

Chr7:33344613

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA10605289

rs_886043248

2 SubmittersRCV000310612 RCV001392507

NM_025114.4(CEP290):c.4437+1G>A

SNV
Germline

Chr12:88086038

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Condition: not provided
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5
CEP290-related disorder
Leber congenital amaurosis
Uterine carcinosarcoma

Criteria Provided
Multiple Submitters
No Conflicts

CA6711940

rs_760915898

10 SubmittersRCV000473837 RCV000498064 RCV000763313 RCV000779117 RCV001271571 RCV005895728

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_198428.3(BBS9):c.1918A>G (p.Ile640Val)

SNV
Germline

Chr7:33383794

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome
BBS9-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4214544

rs_144112103

4 SubmittersRCV000392986 RCV001242482 RCV004745320 RCV005520264

NM_017777.4(MKS1):c.1388G>A (p.Arg463Gln)

SNV
Germline

Chr17:58207104

Conflicting classifications of pathogenicity

Meckel syndrome, type 1
not specified
Bardet-Biedl syndrome
Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Bardet-Biedl syndrome 13
Cervical cancer
Uterine corpus endometrial carcinoma
Sarcoma
Thymoma
Thyroid cancer, nonmedullary, 1
Early onset severe obesity

Criteria Provided
Conflicting Classifications

CA8669152

rs_201619500

16 SubmittersRCV000285730 RCV000335464 RCV000400230 RCV000514906 RCV001083793 RCV001094550 RCV005895757 RCV005895761 RCV005895758 RCV005895759 RCV005895760 RCV006439914

NM_176824.3(BBS7):c.1158A>G (p.Thr386=)

SNV
Germline

Chr4:121845576

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome
Bardet-Biedl syndrome 7
not specified

Criteria Provided
Conflicting Classifications

CA3064312

rs_146617227

4 SubmittersRCV000363420 RCV000381224 RCV001094823 RCV001820824

NM_024685.4(BBS10):c.483A>G (p.Lys161=)

SNV
Germline

Chr12:76347502

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome
Bardet-Biedl syndrome 10
BBS10-related disorder

Criteria Provided
Conflicting Classifications

CA6694328

rs_748732850

4 SubmittersRCV000383300 RCV001045375 RCV001833376 RCV003949902

NM_012210.4(TRIM32):c.330A>G (p.Gln110=)

SNV
Germline

Chr9:116698072

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome
TRIM32-related disorder

Criteria Provided
Conflicting Classifications

CA5210946

rs_770015462

3 SubmittersRCV000363944 RCV000694842 RCV003949913

NM_012210.4(TRIM32):c.1659C>G (p.Gly553=)

SNV
Germline

Chr9:116699401

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA10606036

rs_150318692

2 SubmittersRCV000344739 RCV002518030

NM_012210.4(TRIM32):c.404C>T (p.Thr135Ile)

SNV
Germline

Chr9:116698146

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome
TRIM32-related disorder
Sarcotubular myopathy
Bardet-Biedl syndrome 11

Criteria Provided
Conflicting Classifications

CA5210967

rs_141953092

5 SubmittersRCV000321431 RCV001038705 RCV004748697 RCV006713392

NM_012210.4(TRIM32):c.1848T>C (p.Leu616=)

SNV
Germline

Chr9:116699590

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA10606071

rs_886043881

2 SubmittersRCV000285644 RCV006462350

NM_012210.4(TRIM32):c.939G>A (p.Ala313=)

SNV
Germline

Chr9:116698681

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA5211073

rs_375442860

2 SubmittersRCV000285686 RCV002059237

NM_012210.4(TRIM32):c.521C>T (p.Ser174Phe)

SNV
Germline

Chr9:116698263

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome
TRIM32-related disorder
Inborn genetic diseases
Sarcotubular myopathy
Bardet-Biedl syndrome 11

Criteria Provided
Conflicting Classifications

CA5210998

rs_138699534

9 SubmittersRCV000402475 RCV000473777 RCV003401264 RCV002518050 RCV006713393

NM_017777.4(MKS1):c.323G>A (p.Arg108His)

SNV
Germline

Chr17:58216182

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
MKS1-related disorder
Joubert syndrome 28
Meckel syndrome, type 1
Bardet-Biedl syndrome 13

Criteria Provided
Conflicting Classifications

CA8669565

rs_200331553

4 SubmittersRCV000352213 RCV001314897 RCV004535431 RCV005016681

NM_025114.4(CEP290):c.6645+1G>A

SNV
Germline

Chr12:88059897

Conflicting classifications of pathogenicity

Joubert syndrome 5
Condition: not provided
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 4
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Inborn genetic diseases
Bardet-Biedl syndrome 14
CEP290-related disorder
Senior-Loken syndrome 6
Joubert syndrome 5
Malignant tumor of urinary bladder
Retinal disorder

Criteria Provided
Conflicting Classifications

CA6711459

rs_201218801

13 SubmittersRCV000454208 RCV000497486 RCV000801486 RCV001331377 RCV001833396 RCV002467720 RCV002522012 RCV003463776 RCV004537606 RCV005355616 RCV005895887 RCV006635324

NM_012210.4(TRIM32):c.90G>A (p.Glu30=)

SNV
Germline

Chr9:116697832

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA5210899

rs_534259071

2 SubmittersRCV000315580 RCV001436656

NM_012210.4(TRIM32):c.693A>C (p.Ala231=)

SNV
Germline

Chr9:116698435

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA5211025

rs_368455215

3 SubmittersRCV000389651 RCV000726486 RCV002059292

NM_025114.4(CEP290):c.6558T>G (p.His2186Gln)

SNV
Germline

Chr12:88059985

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Leber congenital amaurosis
CEP290-related disorder
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6711473

rs_772603458

7 SubmittersRCV000307481 RCV001368383 RCV001828277 RCV004537615 RCV005003616 RCV005305997

NM_012210.4(TRIM32):c.238C>T (p.Leu80=)

SNV
Germline

Chr9:116697980

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome
not specified
TRIM32-related disorder

Criteria Provided
Conflicting Classifications

CA5210927

rs_760820148

4 SubmittersRCV000355667 RCV001501266 RCV001820841 RCV003897656

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_017777.4(MKS1):c.496C>T (p.Arg166Trp)

SNV
Germline

Chr17:58214760

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
not specified
Meckel syndrome, type 1
MKS1-related disorder
Joubert syndrome 28
Meckel syndrome, type 1
Bardet-Biedl syndrome 13

Criteria Provided
Conflicting Classifications

CA8669504

rs_201845154

9 SubmittersRCV000283742 RCV001064855 RCV001820845 RCV001828282 RCV004537621 RCV005016684

NM_006642.5(SDCCAG8):c.278C>T (p.Pro93Leu)

SNV
Germline

Chr1:243271035

Conflicting classifications of pathogenicity

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16
Bardet-Biedl syndrome 16
Senior-Loken syndrome 7
Bardet-Biedl syndrome
SDCCAG8-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1483252

rs_140413256

5 SubmittersRCV000276217 RCV000389243 RCV000872197 RCV003224254 RCV004537662 RCV005425924

NM_006642.5(SDCCAG8):c.237T>A (p.Asp79Glu)

SNV
Germline

Chr1:243270994

Conflicting classifications of pathogenicity

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16
Bardet-Biedl syndrome 16
Senior-Loken syndrome 7
SDCCAG8-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1483244

rs_146474568

5 SubmittersRCV000310366 RCV000365007 RCV000532918 RCV004537661 RCV005425923

NM_006642.5(SDCCAG8):c.572C>T (p.Thr191Ile)

SNV
Germline

Chr1:243293116

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 16
Senior-Loken syndrome 7
Condition: not provided
Bardet-Biedl syndrome 16
Senior-Loken syndrome 7
SDCCAG8-related disorder

Criteria Provided
Conflicting Classifications

CA1483350

rs_150070966

6 SubmittersRCV000342454 RCV000399034 RCV000522463 RCV000763845 RCV004537663

NM_006642.5(SDCCAG8):c.*97G>A

SNV
Germline

Chr1:243499882

Conflicting classifications of pathogenicity

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Conflicting Classifications

CA10609951

rs_554190542

1 SubmittersRCV000353118 RCV000402375

NM_006642.5(SDCCAG8):c.306+11A>G

SNV
Germline

Chr1:243271074

Conflicting classifications of pathogenicity

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16
Bardet-Biedl syndrome 16
Senior-Loken syndrome 7

Criteria Provided
Conflicting Classifications

CA1483265

rs_781456866

3 SubmittersRCV000281933 RCV000318325 RCV002487315

NM_006642.5(SDCCAG8):c.348C>T (p.His116=)

SNV
Germline

Chr1:243274584

Conflicting classifications of pathogenicity

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16
Bardet-Biedl syndrome 16
Senior-Loken syndrome 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1483285

rs_143226730

3 SubmittersRCV000282826 RCV000377375 RCV000872159 RCV006435032

NM_006642.5(SDCCAG8):c.676-4A>G

SNV
Germline

Chr1:243304709

Conflicting classifications of pathogenicity

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16
Bardet-Biedl syndrome 16
Senior-Loken syndrome 7
SDCCAG8-related disorder

Criteria Provided
Conflicting Classifications

CA1483400

rs_377256554

3 SubmittersRCV000288842 RCV000343855 RCV001493922 RCV004734953

NM_006642.5(SDCCAG8):c.1404G>A (p.Lys468=)

SNV
Germline

Chr1:243344262

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 16
Senior-Loken syndrome 7
Bardet-Biedl syndrome 16
Senior-Loken syndrome 7

Criteria Provided
Conflicting Classifications

CA1483636

rs_759125934

2 SubmittersRCV000321346 RCV000380673 RCV003765736

NM_015910.7(WDPCP):c.2159-13T>C

SNV
Germline

Chr2:63152958

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 15
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA1681973

rs_202221613

2 SubmittersRCV000263002 RCV002057707

NM_015910.7(WDPCP):c.1310G>T (p.Ser437Ile)

SNV
Germline

Chr2:63404173

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 15
Condition: not provided
WDPCP-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1682255

rs_367727948

6 SubmittersRCV000344015 RCV001094743 RCV001795954 RCV003910299 RCV004965424

NM_015910.7(WDPCP):c.1079C>T (p.Ser360Leu)

SNV
Germline

Chr2:63404404

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 15
Heart defect - tongue hamartoma - polysyndactyly syndrome
Bardet-Biedl syndrome 15
Heart defect - tongue hamartoma - polysyndactyly syndrome
WDPCP-related disorder

Criteria Provided
Conflicting Classifications

CA1682291

rs_141011629

5 SubmittersRCV000295044 RCV001094641 RCV002502299 RCV003227744 RCV003910300

NM_015910.7(WDPCP):c.2169G>C (p.Leu723=)

SNV
Germline

Chr2:63152935

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 15
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA1681968

rs_746225322

2 SubmittersRCV000367006 RCV003522959

NM_015910.7(WDPCP):c.75+13C>T

SNV
Germline

Chr2:63588184

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 15
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA1682649

rs_182759221

2 SubmittersRCV000266384 RCV002057709

NM_015910.7(WDPCP):c.2113G>T (p.Asp705Tyr)

SNV
Germline

Chr2:63153540

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 15
Bardet-Biedl syndrome
Inborn genetic diseases
WDPCP-related disorder

Criteria Provided
Conflicting Classifications

CA1682000

rs_200378703

4 SubmittersRCV000318207 RCV001413862 RCV002519984 RCV003932339

NM_015910.7(WDPCP):c.208+11T>C

SNV
Germline

Chr2:63487436

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 15
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA1682575

rs_201607698

2 SubmittersRCV000355662 RCV002057708

NM_015910.7(WDPCP):c.83A>T (p.Asp28Val)

SNV
Germline

Chr2:63492933

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 15
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1682617

rs_144703991

9 SubmittersRCV000296966 RCV001094708 RCV001726132 RCV001702430

NM_001278293.3(ARL6):c.536-4T>C

SNV
Germline

Chr3:97798020

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 3
Retinitis pigmentosa 55
Condition: not provided
ARL6-related disorder

Criteria Provided
Conflicting Classifications

CA2506009

rs_201939836

6 SubmittersRCV000304079 RCV000354200 RCV000860576 RCV001528228 RCV003972467

NM_001278293.3(ARL6):c.*470G>A

SNV
Germline

Chr3:97798519

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 3
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA10616805

rs_184213166

1 SubmittersRCV000291926 RCV000381551

NM_176824.3(BBS7):c.1505A>G (p.His502Arg)

SNV
Germline

Chr4:121835150

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Condition: not provided
Bardet-Biedl syndrome 1
Bardet-Biedl syndrome 7
not specified

Criteria Provided
Conflicting Classifications

CA3064214

rs_114718913

5 SubmittersRCV000330267 RCV000435007 RCV000709647 RCV001094938 RCV001700075

NM_176824.3(BBS7):c.1311C>T (p.Asn437=)

SNV
Germline

Chr4:121839691

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3064258

rs_199812109

3 SubmittersRCV000276316 RCV001094775 RCV006263894

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_176824.3(BBS7):c.651G>A (p.Ala217=)

SNV
Germline

Chr4:121854771

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 7
Bardet-Biedl syndrome
BBS7-related disorder

Criteria Provided
Conflicting Classifications

CA3064442

rs_750691939

3 SubmittersRCV000289159 RCV002057914 RCV004742390

NM_001278293.3(ARL6):c.-27-1461A>T

SNV
Germline

Chr3:97766620

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Bardet-Biedl syndrome 3

Criteria Provided
Conflicting Classifications

CA10619735

rs_143739859

1 SubmittersRCV000287941 RCV000347529

NM_176824.3(BBS7):c.11T>C (p.Ile4Thr)

SNV
Germline

Chr4:121870303

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 7
Bardet-Biedl syndrome
BBS7-related disorder

Criteria Provided
Conflicting Classifications

CA3064641

rs_542274936

3 SubmittersRCV000340451 RCV001453261 RCV003922526

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_198428.3(BBS9):c.2460C>T (p.Ser820=)

SNV
Germline

Chr7:33534115

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 9

Criteria Provided
Conflicting Classifications

CA4214689

rs_142563811

2 SubmittersRCV000328343 RCV001095292

NM_198428.3(BBS9):c.2538C>T (p.Ile846=)

SNV
Germline

Chr7:33604881

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 9
BBS9-related disorder

Criteria Provided
Conflicting Classifications

CA4214730

rs_376692708

3 SubmittersRCV000382940 RCV001095140 RCV003902399

NM_198428.3(BBS9):c.2593A>G (p.Thr865Ala)

SNV
Germline

Chr7:33604936

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 9
BBS9-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4214740

rs_143963391

5 SubmittersRCV000288312 RCV001095141 RCV003401374 RCV004696023

NM_198428.3(BBS9):c.1553-11T>C

SNV
Germline

Chr7:33357844

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 9
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA4214427

rs_756802547

2 SubmittersRCV000397943 RCV002058664

NM_012210.4(TRIM32):c.27G>C (p.Leu9=)

SNV
Germline

Chr9:116697769

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Sarcotubular myopathy
Bardet-Biedl syndrome 11

Criteria Provided
Conflicting Classifications

CA5210889

rs_201891227

2 SubmittersRCV000294133 RCV000388366 RCV001095315

NM_198428.3(BBS9):c.2070C>G (p.Ala690=)

SNV
Germline

Chr7:33388099

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 9
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA4214589

rs_200515072

2 SubmittersRCV000266889 RCV003633499

NM_198428.3(BBS9):c.1923C>A (p.Pro641=)

SNV
Germline

Chr7:33383799

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 9
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA10629111

rs_886062287

2 SubmittersRCV000361619 RCV002058665

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_012210.4(TRIM32):c.69C>T (p.Cys23=)

SNV
Germline

Chr9:116697811

Conflicting classifications of pathogenicity

Sarcotubular myopathy
Bardet-Biedl syndrome 11
Bardet-Biedl syndrome
TRIM32-related disorder
Sarcotubular myopathy
Bardet-Biedl syndrome 11

Criteria Provided
Conflicting Classifications

CA5210897

rs_575633576

4 SubmittersRCV000348870 RCV000375470 RCV001206079 RCV003932511 RCV006713419

NM_012210.4(TRIM32):c.409C>T (p.Pro137Ser)

SNV
Germline

Chr9:116698151

Conflicting classifications of pathogenicity

Sarcotubular myopathy
Bardet-Biedl syndrome
Bardet-Biedl syndrome 11
Condition: not provided
TRIM32-related disorder

Criteria Provided
Conflicting Classifications

CA5210968

rs_200997003

5 SubmittersRCV000304291 RCV000398363 RCV001095348 RCV001558645 RCV003950293

NM_012210.4(TRIM32):c.1386G>A (p.Val462=)

SNV
Germline

Chr9:116699128

Conflicting classifications of pathogenicity

Sarcotubular myopathy
Bardet-Biedl syndrome
Condition: not provided
Bardet-Biedl syndrome 11
TRIM32-related disorder

Criteria Provided
Conflicting Classifications

CA5211139

rs_762905941

4 SubmittersRCV000275720 RCV000370287 RCV000594977 RCV001095341 RCV003897812

NM_012210.4(TRIM32):c.*692C>G

SNV
Germline

Chr9:116700396

Conflicting classifications of pathogenicity

Sarcotubular myopathy
Bardet-Biedl syndrome 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10632142

rs_116058338

2 SubmittersRCV000266305 RCV000321454 RCV001850931

NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp)

SNV
Germline

Chr12:88087887

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Condition: not provided
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Leber congenital amaurosis
Kidney disorder
Retinal dystrophy
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6712028

rs_181121175

8 SubmittersRCV000291084 RCV000288370 RCV000345714 RCV000389733 RCV000400374 RCV000548918 RCV001085312 RCV001273074 RCV002294263 RCV003888722 RCV004537751

NM_025114.4(CEP290):c.1549T>C (p.Leu517=)

SNV
Germline

Chr12:88118717

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Joubert syndrome 5
Condition: not provided
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA6712526

rs_752942122

3 SubmittersRCV000299546 RCV000305920 RCV000335728 RCV000360538 RCV000398619 RCV000728042 RCV001079199

NM_025114.4(CEP290):c.-41C>T

SNV
Germline

Chr12:88141913

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
not specified
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA10633653

rs_759820573

3 SubmittersRCV000281237 RCV000330322 RCV000338378 RCV000372028 RCV000387258 RCV000422198 RCV004537755

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.190C>G (p.Gln64Glu)

SNV
Germline

Chr11:66514436

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6123287

rs_369843749

5 SubmittersRCV000268188 RCV001243569 RCV003409470 RCV005762000

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

SNV
Germline

Chr11:66523753

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
not specified

Criteria Provided
Conflicting Classifications

CA6123583

rs_142243482

4 SubmittersRCV000287545 RCV001093955 RCV001820904

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

SNV
Germline

Chr11:66523897

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 1
not specified
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA6123614

rs_371084544

3 SubmittersRCV000403380 RCV000780954 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_144596.4(TTC8):c.799-11C>T

SNV
Germline

Chr14:88861211

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 8
Retinitis pigmentosa
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA7302601

rs_768485587

2 SubmittersRCV000294859 RCV000352180 RCV002061168

NM_144596.4(TTC8):c.1463C>T (p.Ala488Val)

SNV
Germline

Chr14:88877325

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Bardet-Biedl syndrome
Bardet-Biedl syndrome 8
not specified
Retinal dystrophy
TTC8-related disorder
Retinitis pigmentosa 51
Bardet-Biedl syndrome 8

Criteria Provided
Conflicting Classifications

CA7302781

rs_199649536

7 SubmittersRCV000300734 RCV000353073 RCV001094375 RCV001820932 RCV003888732 RCV003969880 RCV005010274

NM_033028.5(BBS4):c.37C>T (p.Pro13Ser)

SNV
Germline

Chr15:72695189

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 4

Criteria Provided
Conflicting Classifications

CA7646456

rs_151164191

2 SubmittersRCV000400282 RCV001094446

NM_033028.5(BBS4):c.1107-7G>A

SNV
Germline

Chr15:72735818

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 4
Condition: not provided
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA7646915

rs_766664389

3 SubmittersRCV000392838 RCV000415761 RCV001437125

NM_031885.5(BBS2):c.2088T>C (p.Thr696=)

SNV
Germline

Chr16:56484839

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome
BBS2-related disorder

Criteria Provided
Conflicting Classifications

CA10638048

rs_886052144

4 SubmittersRCV000275380 RCV001476802 RCV004732845

NM_031885.5(BBS2):c.1207C>T (p.Arg403Cys)

SNV
Germline

Chr16:56501371

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
not specified
BBS2-related disorder
Condition: not provided
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74
Bardet-Biedl syndrome 2

Criteria Provided
Conflicting Classifications

CA8065809

rs_766873519

7 SubmittersRCV001850699 RCV003488537 RCV004544576 RCV004694280 RCV005016707 RCV000665273

NM_031885.5(BBS2):c.837C>T (p.Val279=)

SNV
Germline

Chr16:56502776

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA8065903

rs_748579225

2 SubmittersRCV000363830 RCV001401813

NM_031885.5(BBS2):c.534+7G>C

SNV
Germline

Chr16:56510852

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA10638049

rs_886052149

3 SubmittersRCV000673826 RCV002056502

NM_024685.4(BBS10):c.460T>C (p.Leu154=)

SNV
Germline

Chr12:76347525

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 10
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA6694338

rs_754415474

2 SubmittersRCV000373375 RCV001424219

NM_024685.4(BBS10):c.393G>A (p.Gln131=)

SNV
Germline

Chr12:76347592

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 10
Bardet-Biedl syndrome
BBS10-related disorder

Criteria Provided
Conflicting Classifications

CA6694359

rs_369066076

3 SubmittersRCV000281100 RCV002522254 RCV003897713

NM_025114.4(CEP290):c.7365A>G (p.Glu2455=)

SNV
Germline

Chr12:88049259

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6711281

rs_765709669

3 SubmittersRCV000280658 RCV000286608 RCV000339178 RCV000378693 RCV000401265 RCV001410302 RCV004537747

NM_025114.4(CEP290):c.7209+7T>G

SNV
Germline

Chr12:88050347

Conflicting classifications of pathogenicity

Meckel syndrome, type 4
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Joubert syndrome 5
Leber congenital amaurosis 10
Condition: not provided
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA6711328

rs_745813087

3 SubmittersRCV000270876 RCV000283328 RCV000323734 RCV000322071 RCV000380635 RCV000729391 RCV001409432

NM_025114.4(CEP290):c.5764A>C (p.Ile1922Leu)

SNV
Germline

Chr12:88071872

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Joubert syndrome 5
Meckel syndrome, type 4
not specified
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6711648

rs_746949236

4 SubmittersRCV000303118 RCV000339249 RCV000347524 RCV000391502 RCV000398921 RCV000603796 RCV001341200 RCV005532627

NM_025114.4(CEP290):c.4064G>A (p.Arg1355His)

SNV
Germline

Chr12:88087910

Conflicting classifications of pathogenicity

Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Joubert syndrome 5
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Condition: not provided
Leber congenital amaurosis
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
CEP290-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10638682

rs_548558619

7 SubmittersRCV000303931 RCV000339034 RCV000361178 RCV000391345 RCV000398556 RCV001242966 RCV001590929 RCV001835779 RCV002487370 RCV004544542 RCV005540054

NM_025114.4(CEP290):c.3574-15T>A

SNV
Germline

Chr12:88089502

Conflicting classifications of pathogenicity

Senior-Loken syndrome 6
Meckel syndrome, type 4
Leber congenital amaurosis 10
Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA6712114

rs_565414938

2 SubmittersRCV000267083 RCV000272452 RCV000321121 RCV000324529 RCV000378166 RCV001513375

NM_025114.4(CEP290):c.2174A>C (p.Glu725Ala)

SNV
Germline

Chr12:88111737

Conflicting classifications of pathogenicity

Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Microcephaly
Condition: not provided
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Retinal dystrophy
CEP290-related disorder
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6712389

rs_375038986

10 SubmittersRCV000307295 RCV000310425 RCV000365084 RCV000371328 RCV000400672 RCV000861492 RCV001252733 RCV001562789 RCV002467728 RCV003888723 RCV004732842 RCV005003631 RCV005801772

NM_025114.4(CEP290):c.54G>A (p.Leu18=)

SNV
Germline

Chr12:88141254

Conflicting classifications of pathogenicity

Joubert syndrome 5
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA10638700

rs_886049885

2 SubmittersRCV000295236 RCV000325527 RCV000352716 RCV000382505 RCV000386249 RCV001421212

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_017777.4(MKS1):c.491G>A (p.Arg164His)

SNV
Germline

Chr17:58214765

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 13
Meckel syndrome, type 1
Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
MKS1-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8669506

rs_200149256

7 SubmittersRCV000321171 RCV000384944 RCV000730592 RCV001086823 RCV004537814 RCV006713406

NM_144596.4(TTC8):c.1491C>T (p.Asp497=)

SNV
Germline

Chr14:88877353

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Bardet-Biedl syndrome 8
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA10641214

rs_886050878

2 SubmittersRCV000260562 RCV000332152 RCV002520928

NM_024685.4(BBS10):c.1974T>C (p.Tyr658=)

SNV
Germline

Chr12:76346011

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 10
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA6694067

rs_376613074

2 SubmittersRCV000305620 RCV001460767

NM_024685.4(BBS10):c.1158G>A (p.Leu386=)

SNV
Germline

Chr12:76346827

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Condition: not provided
Bardet-Biedl syndrome 10

Criteria Provided
Conflicting Classifications

CA6694215

rs_138702315

5 SubmittersRCV000331467 RCV000588184 RCV001094233

NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr)

SNV
Germline

Chr12:88050377

Conflicting classifications of pathogenicity

Leber congenital amaurosis 10
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel syndrome, type 4
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Leber congenital amaurosis
Condition: not provided
not specified
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA6711331

rs_189556433

7 SubmittersRCV000282628 RCV000295385 RCV000335271 RCV000374397 RCV000400288 RCV000465588 RCV001276480 RCV001545810 RCV001700050 RCV003888721

NM_025114.4(CEP290):c.5709+12A>G

SNV
Germline

Chr12:88077210

Conflicting classifications of pathogenicity

Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Meckel syndrome, type 4
Joubert syndrome 5
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA6711673

rs_371010287

2 SubmittersRCV000259439 RCV000300620 RCV000304102 RCV000355216 RCV000354211 RCV002056336

NM_025114.4(CEP290):c.4151G>A (p.Arg1384His)

SNV
Germline

Chr12:88087823

Conflicting classifications of pathogenicity

Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
not specified
Leber congenital amaurosis
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6712022

rs_143152287

5 SubmittersRCV000268181 RCV000303676 RCV000316272 RCV000360821 RCV000354663 RCV000603267 RCV001273072 RCV001347081 RCV004732840

NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys)

SNV
Germline

Chr12:88089271

Conflicting classifications of pathogenicity

Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Retinal dystrophy
Leber congenital amaurosis
Retinitis pigmentosa
Condition: not provided
Inborn genetic diseases
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6712084

rs_139998038

11 SubmittersRCV000276434 RCV000289191 RCV000327895 RCV000333827 RCV000381363 RCV000557002 RCV001074452 RCV001273076 RCV001590930 RCV001555535 RCV002520840 RCV004544543

NM_033028.5(BBS4):c.1440G>A (p.Thr480=)

SNV
Germline

Chr15:72736953

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 4

Criteria Provided
Conflicting Classifications

CA7647024

rs_148682268

2 SubmittersRCV000324428 RCV001094365

NM_025114.4(CEP290):c.2616G>A (p.Ser872=)

SNV
Germline

Chr12:88106876

Conflicting classifications of pathogenicity

Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
not specified
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6712296

rs_776360559

4 SubmittersRCV000282243 RCV000337086 RCV000350122 RCV000394763 RCV000399710 RCV000605884 RCV001245594 RCV004544544

NM_033028.5(BBS4):c.*611C>T

SNV
Germline

Chr15:72738198

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7647120

rs_41277724

2 SubmittersRCV000344998 RCV003391142

NM_025114.4(CEP290):c.1908A>T (p.Lys636Asn)

SNV
Germline

Chr12:88115099

Conflicting classifications of pathogenicity

Leber congenital amaurosis 10
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel syndrome, type 4
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Leber congenital amaurosis
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6712437

rs_199747962

5 SubmittersRCV000311480 RCV000315150 RCV000351341 RCV000357069 RCV000390499 RCV000860718 RCV001833458 RCV002467729 RCV002461069

NM_025114.4(CEP290):c.-33G>T

SNV
Germline

Chr12:88141905

Conflicting classifications of pathogenicity

Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Joubert syndrome 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10642542

rs_139415563

2 SubmittersRCV000266217 RCV000305052 RCV000309585 RCV000357550 RCV000402356 RCV001642965

NM_024685.4(BBS10):c.1028G>A (p.Arg343Gln)

SNV
Germline

Chr12:76346957

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 10
Condition: not provided
Bardet-Biedl syndrome
Inborn genetic diseases
BBS10-related disorder

Criteria Provided
Conflicting Classifications

CA6694243

rs_201335653

6 SubmittersRCV000388272 RCV000591216 RCV001859859 RCV003362753 RCV003422256

NM_024685.4(BBS10):c.198-10T>C

SNV
Germline

Chr12:76347797

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 10

Criteria Provided
Conflicting Classifications

CA6694392

rs_376497190

2 SubmittersRCV000391618 RCV001094136

NM_025114.4(CEP290):c.4293G>A (p.Ala1431=)

SNV
Germline

Chr12:88086400

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Leber congenital amaurosis 10
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6711985

rs_377614744

3 SubmittersRCV000271533 RCV000306869 RCV000328955 RCV000363839 RCV000376492 RCV000869776 RCV004537749

NM_025114.4(CEP290):c.1623+10G>T

SNV
Germline

Chr12:88118633

Conflicting classifications of pathogenicity

Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Meckel syndrome, type 4
Joubert syndrome 5
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA6712516

rs_377529198

2 SubmittersRCV000272744 RCV000287480 RCV000327713 RCV000376587 RCV000382304 RCV000981128

NM_025114.4(CEP290):c.503G>A (p.Arg168His)

SNV
Germline

Chr12:88130558

Conflicting classifications of pathogenicity

Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Retinitis pigmentosa
Leber congenital amaurosis
not specified
Retinal dystrophy
CEP290-related disorder
CEP290-related ciliopathy

Criteria Provided
Conflicting Classifications

CA6712768

rs_200063017

8 SubmittersRCV000263394 RCV000285505 RCV000316286 RCV000355828 RCV000373256 RCV000637006 RCV000787814 RCV001275046 RCV003330639 RCV003888725 RCV004537752 RCV005355635

NM_170784.3(MKKS):c.1269C>T (p.His423=)

SNV
Germline

Chr20:10407619

Conflicting classifications of pathogenicity

McKusick-Kaufman syndrome
Bardet-Biedl syndrome 6
Bardet-Biedl syndrome
McKusick-Kaufman syndrome
MKKS-related disorder

Criteria Provided
Conflicting Classifications

CA9763520

rs_144313303

3 SubmittersRCV000329365 RCV000376996 RCV002519997 RCV004735490

NM_170784.3(MKKS):c.-306A>G

SNV
Germline

Chr20:10413820

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 6
McKusick-Kaufman syndrome

Criteria Provided
Conflicting Classifications

CA10643473

rs_3748466

1 SubmittersRCV000280947 RCV000338067

NM_031885.5(BBS2):c.1910+9T>G

SNV
Germline

Chr16:56496958

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome
BBS2-related disorder

Criteria Provided
Conflicting Classifications

CA8065592

rs_751604858

4 SubmittersRCV000671045 RCV002056501 RCV004537806

NM_031885.5(BBS2):c.327G>A (p.Ser109=)

SNV
Germline

Chr16:56514471

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome
BBS2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8066082

rs_770497817

7 SubmittersRCV000667692 RCV001239194 RCV004732847 RCV006731922

NM_144596.4(TTC8):c.*83A>G

SNV
Germline

Chr14:88877493

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 8
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA10645222

rs_147325843

1 SubmittersRCV000273618 RCV000389074

NM_017777.4(MKS1):c.102A>G (p.Thr34=)

SNV
Germline

Chr17:58218708

Conflicting classifications of pathogenicity

Meckel syndrome, type 1
Bardet-Biedl syndrome 13
Meckel-Gruber syndrome
Joubert syndrome
MKS1-related disorder

Criteria Provided
Conflicting Classifications

CA10646202

rs_886053171

3 SubmittersRCV000311622 RCV000337010 RCV001441690 RCV004537815

NM_017777.4(MKS1):c.80+14C>G

SNV
Germline

Chr17:58219137

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 13
Meckel syndrome, type 1
Joubert syndrome 28
Meckel syndrome, type 1
Bardet-Biedl syndrome 13
Meckel-Gruber syndrome
Joubert syndrome
MKS1-related disorder

Criteria Provided
Conflicting Classifications

CA10646204

rs_761061379

4 SubmittersRCV000297157 RCV000407075 RCV000670260 RCV002522992 RCV004732850

NM_144596.4(TTC8):c.5G>A (p.Ser2Asn)

SNV
Germline

Chr14:88824712

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Bardet-Biedl syndrome 8
Bardet-Biedl syndrome
Retinal dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7302304

rs_199571677

4 SubmittersRCV000304181 RCV000360976 RCV001859883 RCV003888731 RCV004678676

NM_144596.4(TTC8):c.330-15T>A

SNV
Germline

Chr14:88841022

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Bardet-Biedl syndrome 8
Bardet-Biedl syndrome
Gastric cancer
Malignant tumor of esophagus

Criteria Provided
Conflicting Classifications

CA7302443

rs_187484893

3 SubmittersRCV000263140 RCV000373889 RCV001519327 RCV005893310 RCV005893309

NM_033028.5(BBS4):c.1215C>G (p.Leu405=)

SNV
Germline

Chr15:72735933

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 4

Criteria Provided
Conflicting Classifications

CA7646949

rs_3759869

2 SubmittersRCV000309670 RCV001094310

NM_031885.5(BBS2):c.1894C>T (p.Arg632Cys)

SNV
Germline

Chr16:56496983

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74
Bardet-Biedl syndrome 2
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA8065597

rs_200021475

6 SubmittersRCV000326249 RCV001094468 RCV002487413 RCV004816560

NM_031885.5(BBS2):c.1797+12C>T

SNV
Germline

Chr16:56497731

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA8065624

rs_370960689

2 SubmittersRCV000267494 RCV001445202

NM_031885.5(BBS2):c.744T>C (p.His248=)

SNV
Germline

Chr16:56506010

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 2
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA8065934

rs_186893286

4 SubmittersRCV000360271 RCV001094338 RCV003888749

NM_031885.5(BBS2):c.111G>A (p.Thr37=)

SNV
Germline

Chr16:56519752

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 2
BBS2-related disorder

Criteria Provided
Conflicting Classifications

CA8066140

rs_191867233

3 SubmittersRCV000295686 RCV001094471 RCV004732848

NM_031885.5(BBS2):c.1527+12G>A

SNV
Germline

Chr16:56499766

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA8065715

rs_376715521

2 SubmittersRCV000282870 RCV001850698

NM_031885.5(BBS2):c.1104C>T (p.Asn368=)

SNV
Germline

Chr16:56501474

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 2
Condition: not provided
BBS2-related disorder

Criteria Provided
Conflicting Classifications

CA8065828

rs_141731677

5 SubmittersRCV000395324 RCV001094336 RCV004597779 RCV004732846

NM_031885.5(BBS2):c.78G>A (p.Gly26=)

SNV
Germline

Chr16:56519785

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA8066148

rs_759629466

2 SubmittersRCV000386685 RCV002061201

NM_017777.4(MKS1):c.1322C>T (p.Thr441Met)

SNV
Germline

Chr17:58207170

Conflicting classifications of pathogenicity

Meckel syndrome, type 1
Bardet-Biedl syndrome 13
Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Inborn genetic diseases
MKS1-related disorder

Criteria Provided
Conflicting Classifications

CA8669167

rs_367625961

6 SubmittersRCV000291999 RCV000346858 RCV000592032 RCV001850733 RCV002524429 RCV004529556

NM_017777.4(MKS1):c.644+8G>T

SNV
Germline

Chr17:58214251

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 13
Meckel syndrome, type 1
Meckel-Gruber syndrome
Joubert syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8669457

rs_370117125

8 SubmittersRCV000266041 RCV000379306 RCV000861689 RCV001699454

NM_017777.4(MKS1):c.*322G>T

SNV
Germline

Chr17:58205757

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 13
Meckel syndrome, type 1
Condition: not provided
Ovarian serous cystadenocarcinoma
Cervical cancer

Criteria Provided
Conflicting Classifications

CA10650548

rs_185405908

4 SubmittersRCV000308647 RCV000392532 RCV003311756 RCV005894652 RCV005894651

NM_017777.4(MKS1):c.813C>T (p.His271=)

SNV
Germline

Chr17:58213027

Conflicting classifications of pathogenicity

Meckel syndrome, type 1
Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Bardet-Biedl syndrome 13
MKS1-related disorder

Criteria Provided
Conflicting Classifications

CA8669402

rs_201961765

4 SubmittersRCV000262761 RCV000596764 RCV001088004 RCV001126361 RCV004537813

NM_017777.4(MKS1):c.729G>T (p.Thr243=)

SNV
Germline

Chr17:58213785

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 13
Meckel syndrome, type 1
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA8669437

rs_373491923

2 SubmittersRCV000260241 RCV000324797 RCV001399709

NM_017777.4(MKS1):c.27C>T (p.Asp9=)

SNV
Germline

Chr17:58219204

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 13
Meckel syndrome, type 1
Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA8669667

rs_369488349

9 SubmittersRCV000266789 RCV000361285 RCV000728548 RCV001086578

NM_017777.3(MKS1):c.-64T>C

SNV
Germline

Chr17:58219294

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 13
Meckel syndrome, type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10650558

rs_372127517

2 SubmittersRCV000272730 RCV000327245 RCV001590960

NM_170784.3(MKKS):c.874C>T (p.Leu292=)

SNV
Germline

Chr20:10412641

Conflicting classifications of pathogenicity

McKusick-Kaufman syndrome
Bardet-Biedl syndrome 6
Bardet-Biedl syndrome
McKusick-Kaufman syndrome
MKKS-related disorder

Criteria Provided
Conflicting Classifications

CA9763609

rs_758645426

3 SubmittersRCV000284972 RCV000341367 RCV002057725 RCV004544630

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

6 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

4 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/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6123351

rs_376894444

19 SubmittersRCV000411434 RCV000504813 RCV001074216 RCV001092069 RCV001387773 RCV003922662

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

SNV
Germline

Chr11:66515692

Pathogenic

Bardet-Biedl syndrome 1
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16041522

rs_1057516933

3 SubmittersRCV000409654 RCV006462575

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

7 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

11 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_024685.4(BBS10):c.1677C>G (p.Tyr559Ter)

SNV
Germline

Chr12:76346308

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 10
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16041577

rs_375413604

5 SubmittersRCV000409664 RCV001850959

NM_024685.4(BBS10):c.1391C>G (p.Ser464Ter)

SNV
Germline

Chr12:76346594

Pathogenic

Bardet-Biedl syndrome 10
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA6694180

rs_759682922

6 SubmittersRCV000409848 RCV001041782

NM_024685.4(BBS10):c.574C>T (p.Gln192Ter)

SNV
Germline

Chr12:76347411

Pathogenic

Bardet-Biedl syndrome 10
Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA16041585

rs_1057517184

2 SubmittersRCV000411485 RCV002524624

NM_024685.4(BBS10):c.378G>A (p.Trp126Ter)

SNV
Unknown

Chr12:76347607

Likely pathogenic

Bardet-Biedl syndrome 10

No Assertion Criteria Provided

CA16041587

rs_1057516753

1 SubmittersRCV000409088

NM_024685.4(BBS10):c.361A>T (p.Lys121Ter)

SNV
Unknown

Chr12:76347624

Likely pathogenic

Bardet-Biedl syndrome 10

No Assertion Criteria Provided

CA16041588

rs_1057516240

1 SubmittersRCV000410231

NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter)

SNV
Germline

Chr16:56501014

Pathogenic

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74
Condition: not provided
Retinal dystrophy
BBS2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA8065780

rs_147030232

13 SubmittersRCV000411465 RCV001069542 RCV000762966 RCV001571149 RCV003889878 RCV004530497

NM_025114.4(CEP290):c.451C>T (p.Arg151Ter)

SNV
Germline

Chr12:88131209

Pathogenic/Likely pathogenic

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
not specified
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Inborn genetic diseases
Leber congenital amaurosis
Retinal disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA6712782

rs_757641323

11 SubmittersRCV000414162 RCV000552078 RCV000999862 RCV002470852 RCV003463818 RCV005010313 RCV005540072 RCV006640617 RCV006273017

NM_025114.4(CEP290):c.3104-2A>G

SNV
Germline

Chr12:88093977

Pathogenic/Likely pathogenic

6 conditions
Bardet-Biedl syndrome 14
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

CA6712210

rs_773386777

3 SubmittersRCV000415418 RCV003470370 RCV003766166

NM_025114.4(CEP290):c.2941C>T (p.Gln981Ter)

SNV
Germline

Chr12:88102888

Pathogenic/Likely pathogenic

Molar tooth sign on MRI
Central hypotonia
Nystagmus
Blindness
Joubert syndrome 5
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA16043473

rs_1057518822

5 SubmittersRCV000414899 RCV000415004 RCV001199375 RCV003766165 RCV003470364 RCV005004147 RCV006640620

NM_176824.3(BBS7):c.1891-2A>C

SNV
Germline

Chr4:121828271

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 7
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16044049

rs_1057519027

3 SubmittersRCV000416357 RCV003633501

NM_025114.4(CEP290):c.523C>A (p.Gln175Lys)

SNV
Germline

Chr12:88130414

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 5
Meckel syndrome, type 4
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Leber congenital amaurosis
Intellectual disability
CEP290-related disorder
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA6712745

rs_202159966

9 SubmittersRCV000428640 RCV001109866 RCV001109867 RCV000809280 RCV001109868 RCV001110658 RCV001109869 RCV001275045 RCV001252443 RCV004530521 RCV005010318 RCV004816652

NM_025114.4(CEP290):c.6629G>A (p.Arg2210His)

SNV
Germline

Chr12:88059914

Conflicting classifications of pathogenicity

Condition: not provided
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Leber congenital amaurosis
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA6711461

rs_371833544

6 SubmittersRCV000417476 RCV000765111 RCV001276484 RCV001245037 RCV003889881

NM_015662.3(IFT172):c.1525-6C>G

SNV
Germline

Chr2:27471101

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Condition: not provided
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Ovarian serous cystadenocarcinoma
Acute myeloid leukemia
Cervical cancer
Malignant tumor of esophagus
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA1580594

rs_201231401

6 SubmittersRCV000433325 RCV000877807 RCV001727724 RCV002506060 RCV005898065 RCV005898062 RCV005898064 RCV005898063 RCV005898061

NM_198428.3(BBS9):c.436G>A (p.Val146Ile)

SNV
Germline

Chr7:33177585

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome
Bardet-Biedl syndrome 9
Inborn genetic diseases
BBS9-related disorder

Criteria Provided
Conflicting Classifications

CA4213983

rs_372412756

5 SubmittersRCV000432847 RCV001861591 RCV002481321 RCV004965455 RCV003401426

NM_198428.3(BBS9):c.2258A>T (p.Glu753Val)

SNV
Germline

Chr7:33505605

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome
Bardet-Biedl syndrome 9
Inborn genetic diseases
BBS9-related disorder
Retinal dystrophy
Sarcoma
Clear cell carcinoma of kidney
Ovarian serous cystadenocarcinoma
Adrenocortical carcinoma, hereditary
Lung cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA4214639

rs_61764068

9 SubmittersRCV000417647 RCV001083313 RCV001165275 RCV002521642 RCV003912685 RCV004816660 RCV005896668 RCV005896667 RCV005896669 RCV005896666 RCV005896670 RCV005896665

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

SNV
Germline

Chr11:66526159

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6123638

rs_143495423

6 SubmittersRCV000442981 RCV001309601 RCV001274037 RCV003392248

NM_025114.4(CEP290):c.1360-4T>G

SNV
Germline

Chr12:88120280

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel syndrome, type 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6712563

rs_200328638

6 SubmittersRCV000441785 RCV000474649 RCV001112008 RCV001112451 RCV001112007 RCV001112009 RCV001112452 RCV002510886

NM_025114.4(CEP290):c.1729C>T (p.Leu577=)

SNV
Germline

Chr12:88117128

Conflicting classifications of pathogenicity

Condition: not provided
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA6712482

rs_201295052

8 SubmittersRCV000733432 RCV001111899 RCV001109606 RCV001109607 RCV001109608 RCV001111898 RCV001084047

NM_033028.5(BBS4):c.883C>T (p.Arg295Ter)

SNV
Germline

Chr15:72731573

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 4
Condition: not provided
Bardet-Biedl syndrome
BBS4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA7646830

rs_775710800

8 SubmittersRCV000449577 RCV000995387 RCV001199438 RCV004748762

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_152384.3(BBS5):c.751A>G (p.Asn251Asp)

SNV
Germline

Chr2:169499555

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 5
Condition: not provided
not specified
BBS5-related disorder
Intellectual disability

Criteria Provided
Conflicting Classifications

CA1956310

rs_143113298

6 SubmittersRCV000463506 RCV000765535 RCV001090461 RCV001821295 RCV003972762 RCV005625617

NM_198428.3(BBS9):c.263+1G>A

SNV
Germline

Chr7:33152852

Pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 9
BBS9-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA16612093

rs_137962929

5 SubmittersRCV000477579 RCV002468580 RCV003912812

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

SNV
Germline

Chr11:66526708

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16613438

rs_1060503690

3 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
Inborn genetic diseases
Retinal dystrophy
BBS1-related disorder

Criteria Provided
Conflicting Classifications

CA6123344

rs_759253107

5 SubmittersRCV000472989 RCV001828486 RCV002525625 RCV003889901 RCV004742430

NM_024685.4(BBS10):c.440A>G (p.Gln147Arg)

SNV
Germline

Chr12:76347545

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 10
BBS10-related disorder
BBS10-related ciliopathy

Criteria Provided
Conflicting Classifications

CA6694345

rs_140585012

6 SubmittersRCV000473968 RCV001109510 RCV003925312 RCV005365309

NM_033028.5(BBS4):c.513T>A (p.Tyr171Ter)

SNV
Germline

Chr15:72724581

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA16614490

rs_367882912

1 SubmittersRCV000469982

NM_033028.5(BBS4):c.638T>A (p.Leu213Ter)

SNV
Germline

Chr15:72727990

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA16614491

rs_1060503692

3 SubmittersRCV000471858 RCV003463973

NM_033028.5(BBS4):c.1179C>T (p.Ala393=)

SNV
Germline

Chr15:72735897

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 4
BBS4-related disorder

Criteria Provided
Conflicting Classifications

CA7646937

rs_780560947

3 SubmittersRCV000464128 RCV001117119 RCV003900006

NM_033028.5(BBS4):c.1140G>A (p.Val380=)

SNV
Germline

Chr15:72735858

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome
BBS4-related disorder

Criteria Provided
Conflicting Classifications

CA7646926

rs_141511580

3 SubmittersRCV000593840 RCV001087745 RCV003915326

NM_033028.5(BBS4):c.830G>T (p.Gly277Val)

SNV
Germline

Chr15:72731423

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA7646802

rs_749017489

1 SubmittersRCV000462368

NM_177965.4(CFAP418):c.304A>T (p.Lys102Ter)

SNV
Germline

Chr8:95260472

Pathogenic

Bardet-biedl syndrome 21

No Assertion Criteria Provided

CA4815195

rs_766087213

1 SubmittersRCV000477690

NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter)

SNV
Germline

Chr12:76346308

Pathogenic

Bardet-Biedl syndrome 10
Bardet-Biedl syndrome
Retinal dystrophy
Condition: not provided
BBS10-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA6694126

rs_375413604

12 SubmittersRCV000477827 RCV000818478 RCV001075280 RCV001528233 RCV003960121

NM_025114.4(CEP290):c.4705-1G>T

SNV
Germline

Chr12:88083955

Pathogenic/Likely pathogenic

Condition: not provided
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis
CEP290-related disorder
Leber congenital amaurosis 10

Criteria Provided
Multiple Submitters
No Conflicts

CA6711875

rs_777464278

7 SubmittersRCV000479832 RCV001060437 RCV001335139 RCV003470556 RCV003324527 RCV004527588 RCV005869488

NM_025114.4(CEP290):c.1670G>A (p.Arg557His)

SNV
Germline

Chr12:88118524

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Condition: not provided
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Joubert syndrome 5
Senior-Loken syndrome 6
Meckel syndrome, type 4
Leber congenital amaurosis
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
CEP290-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA6712493

rs_184018899

11 SubmittersRCV000485164 RCV000554377 RCV000723705 RCV000763867 RCV001111903 RCV001111904 RCV001111901 RCV001275035 RCV001111900 RCV001111902 RCV003227766 RCV004529604 RCV004816684

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_025114.4(CEP290):c.1910-11T>G

SNV
Germline

Chr12:88114573

Pathogenic

Leber congenital amaurosis
Bardet-Biedl syndrome 14
Meckel syndrome, type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA658656314

rs_1555220638

3 SubmittersRCV000515679 RCV003470596 RCV004800425

NM_025114.4(CEP290):c.4813-2A>G

SNV
Germline

Chr12:88083232

Pathogenic/Likely pathogenic

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Retinal dystrophy
Leber congenital amaurosis
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Joubert syndrome 5
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Joubert syndrome 5
CEP290-related disorder
Bardet-Biedl syndrome 14
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA6711850

rs_369523378

15 SubmittersRCV000498458 RCV000687629 RCV001075395 RCV001271569 RCV001535842 RCV002248731 RCV002222534 RCV003464071 RCV005899811

NM_170784.3(MKKS):c.862G>A (p.Val288Ile)

SNV
Germline

Chr20:10412653

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome
McKusick-Kaufman syndrome
Bardet-Biedl syndrome 6
McKusick-Kaufman syndrome
MKKS-related disorder

Criteria Provided
Conflicting Classifications

CA9763613

rs_113032343

5 SubmittersRCV000498463 RCV001857008 RCV005027576 RCV004735572

NM_006642.5(SDCCAG8):c.778C>G (p.Leu260Val)

SNV
Germline

Chr1:243308026

Conflicting classifications of pathogenicity

not specified
Bardet-Biedl syndrome 16
Senior-Loken syndrome 7
Senior-Loken syndrome 7
Bardet-Biedl syndrome 16
Condition: not provided
Kidney disorder
SDCCAG8-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1483446

rs_201869920

9 SubmittersRCV000504492 RCV000704873 RCV001095982 RCV001095981 RCV001700134 RCV002294338 RCV004535620 RCV004817723

NM_001378454.1(ALMS1):c.10882C>T (p.Arg3628Ter)

SNV
Germline

Chr2:73572759

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA347286010

rs_1473611414

7 SubmittersRCV000503366 RCV001576245 RCV003222006 RCV004817720

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_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
Bardet-Biedl syndrome 1
BBS1-related disorder

Criteria Provided
Conflicting Classifications

CA6123669

rs_141528309

7 SubmittersRCV000500220 RCV000726690 RCV001086879 RCV001274039 RCV003979884

NM_024685.4(BBS10):c.1495G>T (p.Glu499Ter)

SNV
Germline

Chr12:76346490

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 10
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA239331757

rs_898539189

6 SubmittersRCV000503944 RCV001192908

NM_144596.4(TTC8):c.1253A>G (p.Gln418Arg)

SNV
Germline

Chr14:88872358

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bardet-Biedl syndrome
Retinitis pigmentosa
Bardet-Biedl syndrome 8
TTC8-related disorder

Criteria Provided
Conflicting Classifications

CA7302697

rs_142938748

9 SubmittersRCV000502817 RCV000514165 RCV001085151 RCV001117716 RCV001117717 RCV003915396

NM_152384.3(BBS5):c.412C>T (p.Arg138Cys)

SNV
Germline

Chr2:169492899

Likely pathogenic

Cone dystrophy
BBS5-related disorder
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA349164655

rs_1238632042

3 SubmittersRCV000504629 RCV003403181 RCV006463174

NM_001278293.3(ARL6):c.281T>C (p.Ile94Thr)

SNV
Germline

Chr3:97784981

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Bardet-Biedl syndrome 3
Retinitis pigmentosa 55
ARL6-related disorder
Bardet-Biedl syndrome 1
Bardet-Biedl syndrome 3
Retinitis pigmentosa 55

Criteria Provided
Multiple Submitters
No Conflicts

CA2505920

rs_771054395

4 SubmittersRCV000504758 RCV001376735 RCV004745430 RCV005027583

NM_024685.4(BBS10):c.590A>G (p.Tyr197Cys)

SNV
Germline

Chr12:76347395

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Bardet-Biedl syndrome
Bardet-Biedl syndrome 10

Criteria Provided
Multiple Submitters
No Conflicts

CA6694316

rs_756632517

5 SubmittersRCV000504949 RCV001324945 RCV002490846

NM_025114.4(CEP290):c.1066-1G>A

SNV
Germline

Chr12:88125370

Pathogenic

not specified
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Leber congenital amaurosis 10
Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
CEP290-related disorder
Retinal disorder
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA241154824

rs_965522059

8 SubmittersRCV000506801 RCV000636990 RCV000763318 RCV003464093 RCV004732914 RCV006707683 RCV006640714

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
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA381461967

rs_1555048487

4 SubmittersRCV000513191 RCV000674877 RCV001199648 RCV006463194

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_033028.5(BBS4):c.2T>C (p.Met1Thr)

SNV
Germline

Chr15:72686229

Pathogenic/Likely pathogenic

Condition: not provided
Bardet-Biedl syndrome
Bardet-Biedl syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA393074972

rs_1302879683

3 SubmittersRCV000514162 RCV002524988 RCV005010463

NM_015662.3(IFT172):c.4666G>A (p.Val1556Met)

SNV
Germline

Chr2:27446349

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
IFT172-related disorder
Short-rib thoracic dysplasia 10 with or without polydactyly

Criteria Provided
Conflicting Classifications

CA1579519

rs_141098495

6 SubmittersRCV000520966 RCV001239376 RCV002476063 RCV004553147 RCV003483653

NM_015662.3(IFT172):c.4564G>A (p.Glu1522Lys)

SNV
Germline

Chr2:27447610

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
not specified
IFT172-related disorder
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly

Criteria Provided
Conflicting Classifications

CA1579552

rs_746340772

5 SubmittersRCV000521349 RCV001302324 RCV001821461 RCV004553146 RCV005027612

NM_015662.3(IFT172):c.3073C>G (p.Pro1025Ala)

SNV
Germline

Chr2:27457879

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
IFT172-related disorder
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly

Criteria Provided
Conflicting Classifications

CA1580090

rs_61747068

6 SubmittersRCV000523121 RCV001089402 RCV004553148 RCV002467857

NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter)

SNV
Germline

Chr12:88114557

Pathogenic/Likely pathogenic

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA385977034

rs_1555220625

7 SubmittersRCV000519595 RCV001058827 RCV002497033 RCV003155226 RCV003470660 RCV006640735

NM_025114.4(CEP290):c.1190-2A>G

SNV
Germline

Chr12:88121168

Pathogenic/Likely pathogenic

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA6712608

rs_200818935

4 SubmittersRCV000523813 RCV001378303 RCV003470653 RCV006640732

NM_006642.5(SDCCAG8):c.2067G>A (p.Leu689=)

SNV
Germline

Chr1:243489095

Conflicting classifications of pathogenicity

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16
Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Conflicting Classifications

CA1483825

rs_191821211

2 SubmittersRCV000554480 RCV001099654 RCV001097855

NM_176824.3(BBS7):c.1890+6T>C

SNV
Germline

Chr4:121828396

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA658657401

rs_1553930514

1 SubmittersRCV000529910

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_176824.3(BBS7):c.171G>A (p.Val57=)

SNV
Germline

Chr4:121861674

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 7
BBS7-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3064566

rs_144525608

4 SubmittersRCV000553780 RCV001147657 RCV003979970 RCV006447336

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

SNV
Germline

Chr11:66526745

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6123687

rs_755782127

8 SubmittersRCV000551663 RCV001834775 RCV003889922 RCV002528349 RCV004742490 RCV006275004

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_025114.4(CEP290):c.6358-1G>A

SNV
Germline

Chr12:88060995

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Leber congenital amaurosis
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA6711506

rs_766670248

4 SubmittersRCV000555880 RCV001276485 RCV002491001 RCV003470742

NM_025114.4(CEP290):c.384T>C (p.Asp128=)

SNV
Germline

Chr12:88136700

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Joubert syndrome 5
Leber congenital amaurosis 10
Senior-Loken syndrome 6
not specified
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA6712816

rs_76267039

4 SubmittersRCV000550067 RCV001110659 RCV001110660 RCV001112627 RCV001112629 RCV001112628 RCV001821528 RCV003889921

NM_025114.4(CEP290):c.6392A>G (p.Glu2131Gly)

SNV
Germline

Chr12:88060960

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Leber congenital amaurosis
Condition: not provided
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6711500

rs_184323010

5 SubmittersRCV000529924 RCV000765112 RCV001272013 RCV002469187 RCV004732937

NM_025114.4(CEP290):c.1199C>T (p.Thr400Ile)

SNV
Germline

Chr12:88121157

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Condition: not provided
CEP290-related disorder
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5

Criteria Provided
Conflicting Classifications

CA6712602

rs_773578133

4 SubmittersRCV000526103 RCV000839270 RCV004537946 RCV005010500

NM_025114.4(CEP290):c.180+1G>A

SNV
Germline

Chr12:88140955

Pathogenic/Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Leber congenital amaurosis
Condition: not provided
Retinitis pigmentosa
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA6712897

rs_758593134

7 SubmittersRCV000542843 RCV000787558 RCV001091342 RCV001199655 RCV002289749 RCV002497107

NM_033028.5(BBS4):c.1463C>A (p.Thr488Lys)

SNV
Germline

Chr15:72737490

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA7647054

rs_561284402

2 SubmittersRCV000537692 RCV002060311

NM_001042492.3(NF1):c.6819+1G>A

SNV
Germline

Chr17:31338140

Pathogenic

Neurofibromatosis, type 1
Condition: not provided
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Bardet-Biedl syndrome 9
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA399014226

rs_1555534964

9 SubmittersRCV000554367 RCV002221553 RCV002367783 RCV004813112 RCV005863194

NM_170784.3(MKKS):c.757T>C (p.Ser253Pro)

SNV
Germline

Chr20:10412758

Conflicting classifications of pathogenicity

Condition: not provided
McKusick-Kaufman syndrome
Bardet-Biedl syndrome 6
McKusick-Kaufman syndrome
Bardet-Biedl syndrome
MKKS-related disorder

Criteria Provided
Conflicting Classifications

CA9763633

rs_201785599

5 SubmittersRCV000530180 RCV001142558 RCV001142559 RCV001081965 RCV004541679

NM_024685.4(BBS10):c.539G>A (p.Gly180Glu)

SNV
Germline

Chr12:76347446

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 10
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA385814966

rs_1555202697

6 SubmittersRCV000578172 RCV001309745

NM_006642.5(SDCCAG8):c.1717C>T (p.Gln573Ter)

SNV
Germline

Chr1:243415802

Pathogenic/Likely pathogenic

Condition: not provided
Senior-Loken syndrome 7
Bardet-Biedl syndrome 16
SDCCAG8-related disorder
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA345667298

rs_1286714661

4 SubmittersRCV000579189 RCV002530371 RCV004735634 RCV004767416

NM_025114.4(CEP290):c.1709C>G (p.Ser570Ter)

SNV
Germline

Chr12:88118485

Pathogenic

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA385978708

rs_1272411609

4 SubmittersRCV000579059 RCV002530367 RCV003459415 RCV004817775

NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter)

SNV
Germline

Chr16:56484820

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Inborn genetic diseases
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74
BBS2-related disorder
Retinal dystrophy
Retinitis pigmentosa 74
Bardet-Biedl syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA8065521

rs_567573386

12 SubmittersRCV000590291 RCV000622316 RCV000667111 RCV001376258 RCV004530646 RCV004817790 RCV005019012

NM_012210.4(TRIM32):c.744G>A (p.Gln248=)

SNV
Germline

Chr9:116698486

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA5211039

rs_750466433

2 SubmittersRCV000594466 RCV001405492

NM_170784.3(MKKS):c.67A>G (p.Arg23Gly)

SNV
Germline

Chr20:10413448

Conflicting classifications of pathogenicity

not specified
Bardet-Biedl syndrome
McKusick-Kaufman syndrome
McKusick-Kaufman syndrome
Bardet-Biedl syndrome 6
Condition: not provided
Inborn genetic diseases
MKKS-related disorder

Criteria Provided
Conflicting Classifications

CA9763749

rs_147545395

8 SubmittersRCV000596293 RCV000862389 RCV001140040 RCV001140041 RCV001573913 RCV002530988 RCV004530659

NM_198428.3(BBS9):c.2214C>T (p.Ile738=)

SNV
Germline

Chr7:33505561

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome
BBS9-related disorder

Criteria Provided
Conflicting Classifications

CA4214625

rs_148536971

4 SubmittersRCV000591632 RCV001088326 RCV003915692

NM_012210.4(TRIM32):c.1578C>T (p.Thr526=)

SNV
Germline

Chr9:116699320

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA5211175

rs_778620127

2 SubmittersRCV000598496 RCV001433545

NM_025114.4(CEP290):c.5012+2T>C

SNV
Germline

Chr12:88083029

Likely pathogenic

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Leber congenital amaurosis
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Meckel syndrome, type 4
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385992634

rs_1369768287

6 SubmittersRCV000595159 RCV001056739 RCV001276491 RCV002491180 RCV003485612 RCV003465334

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_025114.4(CEP290):c.6798G>A (p.Trp2266Ter)

SNV
Germline

Chr12:88058868

Pathogenic

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
CEP290-related disorder
Kidney disorder
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis
CEP290-related ciliopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA6711432

rs_760540562

9 SubmittersRCV000596012 RCV000636987 RCV002282253 RCV002294351 RCV002250666 RCV002506412 RCV003459464 RCV006640780 RCV006552451

NM_176824.3(BBS7):c.189G>T (p.Gly63=)

SNV
Germline

Chr4:121861656

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome
BBS7-related disorder

Criteria Provided
Conflicting Classifications

CA3064560

rs_541833400

3 SubmittersRCV000597627 RCV003522988 RCV003980083

NM_031885.5(BBS2):c.535-2A>G

SNV
Germline

Chr16:56510036

Pathogenic/Likely pathogenic

Condition: not provided
Bardet-Biedl syndrome
BBS2-related ciliopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA395984136

rs_1555523398

3 SubmittersRCV000591758 RCV003633517 RCV005632513

NM_017777.4(MKS1):c.1213G>A (p.Asp405Asn)

SNV
Germline

Chr17:58207954

Conflicting classifications of pathogenicity

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Bardet-Biedl syndrome 13
Meckel syndrome, type 1

Criteria Provided
Conflicting Classifications

CA8669230

rs_372554696

4 SubmittersRCV000598192 RCV001087688 RCV001823737 RCV001829657

NM_176824.3(BBS7):c.213G>A (p.Leu71=)

SNV
Germline

Chr4:121861632

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome
BBS7-related disorder

Criteria Provided
Conflicting Classifications

CA3064555

rs_778509860

3 SubmittersRCV000591325 RCV002531060 RCV003905537

NM_001023570.4(IQCB1):c.775C>T (p.Arg259Cys)

SNV
Germline

Chr3:121797219

Conflicting classifications of pathogenicity

Condition: not provided
Nephronophthisis
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA2567305

rs_778777181

3 SubmittersRCV000596087 RCV002532517 RCV003224343

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
Bardet-Biedl syndrome
BBS1-related disorder

Criteria Provided
Conflicting Classifications

CA6123536

rs_746775716

3 SubmittersRCV000593860 RCV001455889 RCV003935622

NM_012210.4(TRIM32):c.1530A>G (p.Leu510=)

SNV
Germline

Chr9:116699272

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome
TRIM32-related disorder

Criteria Provided
Conflicting Classifications

CA5211165

rs_145728860

3 SubmittersRCV000593421 RCV001463481 RCV003980107

NM_025114.4(CEP290):c.6364A>T (p.Arg2122Ter)

SNV
Germline

Chr12:88060988

Pathogenic/Likely pathogenic

Condition: not provided
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385978953

rs_1555197766

2 SubmittersRCV000599471 RCV003465350

NM_015662.3(IFT172):c.2597A>G (p.Gln866Arg)

SNV
Germline

Chr2:27459754

Conflicting classifications of pathogenicity

Inborn genetic diseases
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Condition: not provided
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
IFT172-related disorder
Cervical cancer

Criteria Provided
Conflicting Classifications

CA1580242

rs_139229844

6 SubmittersRCV000622689 RCV000797619 RCV001561475 RCV002491337 RCV004547760 RCV005900082

NM_015910.7(WDPCP):c.1448G>A (p.Arg483Gln)

SNV
Germline

Chr2:63382082

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 1
Bardet-Biedl syndrome 15
Bardet-Biedl syndrome
WDPCP-related disorder
Heart defect - tongue hamartoma - polysyndactyly syndrome
Bardet-Biedl syndrome 15

Criteria Provided
Conflicting Classifications

CA1682202

rs_544657165

7 SubmittersRCV000624967 RCV001142952 RCV001319711 RCV003411476 RCV005034197

NM_024685.4(BBS10):c.164T>C (p.Leu55Pro)

SNV
Germline

Chr12:76348195

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 1
Bardet-Biedl syndrome 10
Bardet-Biedl syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA385816113

rs_1460517643

9 SubmittersRCV000625185 RCV000763309 RCV001383856 RCV001579764

NM_170784.3(MKKS):c.613A>T (p.Lys205Ter)

SNV
Germline

Chr20:10412902

Pathogenic

Bardet-Biedl syndrome 6

No Assertion Criteria Provided

CA408232721

rs_1555802009

1 SubmittersRCV000625538

NM_176824.3(BBS7):c.719G>A (p.Gly240Asp)

SNV
Germline

Chr4:121853086

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 7
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA358064762

rs_761403504

3 SubmittersRCV000625890 RCV001567842 RCV001584454

NM_176824.3(BBS7):c.125G>A (p.Gly42Glu)

SNV
Unknown

Chr4:121863257

Likely pathogenic

Bardet-Biedl syndrome 7

Criteria Provided
Single Submitter

CA358045190

rs_1221499782

1 SubmittersRCV000625806

NM_198428.3(BBS9):c.445C>T (p.Arg149Ter)

SNV
Germline

Chr7:33257238

Pathogenic

Bardet-Biedl syndrome 9
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA4214012

rs_781174906

3 SubmittersRCV000626295 RCV003767840

NM_025114.4(CEP290):c.1429C>T (p.Arg477Ter)

SNV
Germline

Chr12:88120207

Pathogenic/Likely pathogenic

Condition: not provided
CEP290-related disorder
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis 10
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385980064

rs_1170451277

5 SubmittersRCV000627200 RCV000779118 RCV000763316 RCV000814304 RCV003465363

NM_152384.3(BBS5):c.265C>T (p.Arg89Ter)

SNV
Germline

Chr2:169487993

Pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 5
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA1956177

rs_772757329

5 SubmittersRCV000638356 RCV001250528 RCV001548296

NM_015910.7(WDPCP):c.159G>A (p.Ala53=)

SNV
Germline

Chr2:63492857

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 15
Condition: not provided
WDPCP-related disorder
Bardet-Biedl syndrome 15
Heart defect - tongue hamartoma - polysyndactyly syndrome

Criteria Provided
Conflicting Classifications

CA1682606

rs_192196713

5 SubmittersRCV000638369 RCV001141213 RCV003424213 RCV003892445 RCV005027750

NM_176824.3(BBS7):c.1235A>G (p.Asp412Gly)

SNV
Germline

Chr4:121843997

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome
Bardet-Biedl syndrome 7
BBS7-related ciliopathy
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3064285

rs_111442398

6 SubmittersRCV000762107 RCV001083688 RCV001144798 RCV005357848 RCV004817840

NM_176824.3(BBS7):c.1413T>A (p.Tyr471Ter)

SNV
Germline

Chr4:121835242

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA358058841

rs_991365297

1 SubmittersRCV000638355

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_012210.4(TRIM32):c.660G>C (p.Val220=)

SNV
Germline

Chr9:116698402

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 11
Sarcotubular myopathy
TRIM32-related disorder

Criteria Provided
Conflicting Classifications

CA5211019

rs_3747833

3 SubmittersRCV000638383 RCV001166179 RCV001166180 RCV004748876

NM_012210.4(TRIM32):c.1326T>A (p.Ile442=)

SNV
Germline

Chr9:116699068

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Condition: not provided
TRIM32-related disorder

Criteria Provided
Conflicting Classifications

CA466917010

rs_1372713940

3 SubmittersRCV000638378 RCV000734066 RCV003953133

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

SNV
Germline

Chr11:66526807

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6123700

rs_200116631

9 SubmittersRCV000638357 RCV001267196 RCV002483815 RCV003313119

NM_024685.4(BBS10):c.1333C>A (p.Leu445Ile)

SNV
Germline

Chr12:76346652

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 10
BBS10-related disorder

Criteria Provided
Conflicting Classifications

CA6694190

rs_199878555

4 SubmittersRCV000638359 RCV001115136 RCV003945609

NM_025114.4(CEP290):c.1078C>T (p.Arg360Ter)

SNV
Germline

Chr12:88125357

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Leber congenital amaurosis
Condition: not provided
Bardet-Biedl syndrome 14
CEP290-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA6712624

rs_776645403

8 SubmittersRCV000636983 RCV000763317 RCV001274130 RCV001356853 RCV003459522 RCV004732982

NM_144596.4(TTC8):c.1327C>T (p.Arg443Trp)

SNV
Germline

Chr14:88872432

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 8
Retinitis pigmentosa 51
Macular dystrophy
Retinitis pigmentosa
Bardet-Biedl syndrome 8
Inborn genetic diseases
TTC8-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA7302713

rs_140698625

8 SubmittersRCV000638366 RCV000765185 RCV000787890 RCV001117718 RCV001117719 RCV002533215 RCV003928075 RCV005900177

NM_033028.5(BBS4):c.864G>A (p.Ala288=)

SNV
Germline

Chr15:72731457

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Condition: not provided
Bardet-Biedl syndrome 4
Familial cancer of breast
Thyroid cancer, nonmedullary, 1

Criteria Provided
Conflicting Classifications

CA7646809

rs_141345544

5 SubmittersRCV000638350 RCV001537497 RCV002467947 RCV005900175 RCV005900176

NM_033028.5(BBS4):c.960T>A (p.Tyr320Ter)

SNV
Germline

Chr15:72731650

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
BBS4-related disorder
Bardet-Biedl syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA393078932

rs_770891152

3 SubmittersRCV000638368 RCV003420115 RCV003459527

NM_170784.3(MKKS):c.119C>G (p.Ser40Ter)

SNV
Germline

Chr20:10413396

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 6
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA9763738

rs_753338844

2 SubmittersRCV000664042 RCV003222088

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_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
Multiple Submitters
No Conflicts

CA381453909

rs_1057516449

3 SubmittersRCV000673570

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

SNV
Germline

Chr11:66515538

Likely pathogenic

Bardet-Biedl syndrome 1
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA381457281

rs_1555046748

3 SubmittersRCV000675034 RCV006701617

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

SNV
Germline

Chr11:66515732

Likely pathogenic

Bardet-Biedl syndrome 1

Criteria Provided
Single Submitter

CA6123388

rs_771517209

2 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
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA224047703

rs_1014835928

6 SubmittersRCV000667051 RCV001060606 RCV006698232

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_024685.4(BBS10):c.2077C>T (p.Gln693Ter)

SNV
Unknown

Chr12:76345908

Likely pathogenic

Bardet-Biedl syndrome 10

No Assertion Criteria Provided

CA385808362

rs_1555202546

1 SubmittersRCV000667156

NM_024685.4(BBS10):c.530A>G (p.Tyr177Cys)

SNV
Germline

Chr12:76347455

Likely pathogenic

Bardet-Biedl syndrome 10
Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA385814987

rs_1555202700

3 SubmittersRCV000672526 RCV000735925

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

7 SubmittersRCV000668784 RCV001377153 RCV001756134 RCV004723052

NM_024685.4(BBS10):c.1829T>G (p.Leu610Ter)

SNV
Unknown

Chr12:76346156

Likely pathogenic

Bardet-Biedl syndrome 10

No Assertion Criteria Provided

CA385809712

rs_1555202572

1 SubmittersRCV000666498

NM_024685.4(BBS10):c.1687C>T (p.Gln563Ter)

SNV
Unknown

Chr12:76346298

Likely pathogenic

Bardet-Biedl syndrome 10

No Assertion Criteria Provided

CA385810514

rs_1555202583

1 SubmittersRCV000672892

NM_024685.4(BBS10):c.850C>T (p.Gln284Ter)

SNV
Germline

Chr12:76347135

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 10
Bardet-Biedl syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA6694275

rs_758732081

7 SubmittersRCV000666092 RCV001038400 RCV005422930

NM_024685.4(BBS10):c.198-1G>C

SNV
Unknown

Chr12:76347788

Likely pathogenic

Bardet-Biedl syndrome 10

Criteria Provided
Single Submitter

CA385816037

rs_1555202740

2 SubmittersRCV000672600

NM_024685.4(BBS10):c.130G>T (p.Glu44Ter)

SNV
Unknown

Chr12:76348229

Likely pathogenic

Bardet-Biedl syndrome 10

No Assertion Criteria Provided

CA385816183

rs_1310735399

1 SubmittersRCV000672846

NM_024685.4(BBS10):c.1250C>T (p.Ala417Val)

SNV
Germline

Chr12:76346735

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 10
Bardet-Biedl syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA385812004

rs_537219462

5 SubmittersRCV000668281 RCV001202294 RCV001093323

NM_024685.4(BBS10):c.1007C>G (p.Ser336Ter)

SNV
Unknown

Chr12:76346978

Likely pathogenic

Bardet-Biedl syndrome 10

No Assertion Criteria Provided

CA385813178

rs_1555202656

1 SubmittersRCV000668802

NM_024685.4(BBS10):c.537T>A (p.Cys179Ter)

SNV
Unknown

Chr12:76347448

Likely pathogenic

Bardet-Biedl syndrome 10

No Assertion Criteria Provided

CA6694322

rs_574032499

1 SubmittersRCV000665633

NM_024685.4(BBS10):c.118A>T (p.Lys40Ter)

SNV
Germline

Chr12:76348241

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 10
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA6694424

rs_202228478

3 SubmittersRCV000667409 RCV001387800

NM_031885.5(BBS2):c.1911-1G>A

SNV
Germline

Chr16:56485739

Likely pathogenic

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome
BBS2-related disorder

Criteria Provided
Single Submitter

CA395973868

rs_1555520256

3 SubmittersRCV000673371 RCV001855595 RCV004732996

NM_031885.5(BBS2):c.941-1G>T

SNV
Germline

Chr16:56502457

Pathogenic

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA8065859

rs_777234811

4 SubmittersRCV000672782 RCV001861814

NM_031885.5(BBS2):c.717+2T>G

SNV
Germline

Chr16:56506118

Pathogenic

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395982865

rs_1555522893

3 SubmittersRCV000667457 RCV002530712

NM_031885.5(BBS2):c.565C>T (p.Arg189Ter)

SNV
Germline

Chr16:56510004

Pathogenic

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA395984063

rs_1273181642

7 SubmittersRCV000665648 RCV000796443 RCV004817870 RCV005256665

NM_031885.5(BBS2):c.471G>A (p.Thr157=)

SNV
Germline

Chr16:56511159

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA8066045

rs_749983428

6 SubmittersRCV000667073 RCV002532060

NM_031885.5(BBS2):c.1969G>T (p.Gly657Ter)

SNV
Germline

Chr16:56485680

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395973415

rs_1166717771

3 SubmittersRCV000670184 RCV003633532

NM_031885.5(BBS2):c.1814C>G (p.Ser605Ter)

SNV
Germline

Chr16:56497063

Pathogenic

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome
Retinitis pigmentosa 74
Bardet-Biedl syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA281478600

rs_201063733

6 SubmittersRCV000668757 RCV000806329 RCV002507165

NM_031885.5(BBS2):c.1438C>T (p.Arg480Ter)

SNV
Germline

Chr16:56499867

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome
Condition: not provided
Retinitis pigmentosa 74
Bardet-Biedl syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA8065736

rs_778090540

9 SubmittersRCV000668777 RCV000794157 RCV004588095 RCV005019129

NM_031885.5(BBS2):c.1081-1G>T

SNV
Unknown

Chr16:56501498

Likely pathogenic

Bardet-Biedl syndrome 2

No Assertion Criteria Provided

CA395980272

rs_1555522000

1 SubmittersRCV000673151

NM_031885.5(BBS2):c.944G>A (p.Arg315Gln)

SNV
Germline

Chr16:56502453

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome
Retinal dystrophy
Retinitis pigmentosa 74
Bardet-Biedl syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA281481247

rs_544773389

5 SubmittersRCV000670759 RCV002532103 RCV003889960 RCV005019139

NM_031885.5(BBS2):c.534+1G>T

SNV
Germline

Chr16:56510858

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 2
Retinitis pigmentosa 74
Bardet-Biedl syndrome 2
Bardet-Biedl syndrome
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8066019

rs_773862084

12 SubmittersRCV000669469 RCV000762968 RCV000694960 RCV001075332 RCV001784258

NM_031885.5(BBS2):c.2060-1G>T

SNV
Germline

Chr16:56484868

Likely pathogenic

Bardet-Biedl syndrome 2
Retinal dystrophy
BBS2-related ciliopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA395972710

rs_1555520142

3 SubmittersRCV000671300 RCV001074105 RCV005632614

NM_031885.5(BBS2):c.2038C>T (p.Gln680Ter)

SNV
Unknown

Chr16:56485611

Likely pathogenic

Bardet-Biedl syndrome 2

Criteria Provided
Single Submitter

CA395972922

rs_1555520220

2 SubmittersRCV000674824

NM_031885.5(BBS2):c.1780C>T (p.Arg594Ter)

SNV
Germline

Chr16:56497760

Pathogenic

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74
BBS2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA8065629

rs_762047808

9 SubmittersRCV000665245 RCV000802962 RCV002507153 RCV004732987

NM_031885.5(BBS2):c.1705C>T (p.Gln569Ter)

SNV
Germline

Chr16:56497835

Pathogenic

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome
Retinitis pigmentosa 74
Bardet-Biedl syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA395976027

rs_1555521501

5 SubmittersRCV000665957 RCV001049752 RCV005019107

NM_031885.5(BBS2):c.814C>T (p.Arg272Ter)

SNV
Germline

Chr16:56502799

Pathogenic

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome
Condition: not provided
Retinitis pigmentosa 74
Bardet-Biedl syndrome 2
Retinal dystrophy
BBS2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA8065909

rs_764164384

12 SubmittersRCV000667444 RCV000808886 RCV001528280 RCV002499159 RCV003889949 RCV004732990

NM_031885.5(BBS2):c.717+1G>A

SNV
Germline

Chr16:56506119

Pathogenic

Bardet-Biedl syndrome 2
Condition: not provided
Bardet-Biedl syndrome
Retinitis pigmentosa 74
Bardet-Biedl syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA281482531

rs_1047075022

6 SubmittersRCV000668445 RCV001784253 RCV003523007 RCV005019126

NM_031885.5(BBS2):c.700C>T (p.Arg234Ter)

SNV
Germline

Chr16:56506137

Pathogenic

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome
Condition: not provided
Retinitis pigmentosa 74
Bardet-Biedl syndrome 2
Retinal dystrophy
BBS2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA8065961

rs_779690256

10 SubmittersRCV000669549 RCV000815857 RCV001597198 RCV002507167 RCV003889955 RCV004544929

NM_031885.5(BBS2):c.241G>T (p.Gly81Cys)

SNV
Germline

Chr16:56514557

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 2
Retinal dystrophy
Condition: not provided
Bardet-Biedl syndrome
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74

Criteria Provided
Multiple Submitters
No Conflicts

CA8066092

rs_750506474

7 SubmittersRCV000673306 RCV001075001 RCV001092931 RCV001377155 RCV005019156

NM_017777.4(MKS1):c.1166-2A>G

SNV
Germline

Chr17:58208003

Likely pathogenic

Bardet-Biedl syndrome 13
Meckel syndrome, type 1
Joubert syndrome 28
Meckel-Gruber syndrome
Joubert syndrome
Bardet-Biedl syndrome 13

Criteria Provided
Multiple Submitters
No Conflicts

CA400325603

rs_1488635637

3 SubmittersRCV000672973 RCV001378641 RCV003472150

NM_017777.4(MKS1):c.829G>T (p.Glu277Ter)

SNV
Germline

Chr17:58213011

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 13
Meckel syndrome, type 1
Joubert syndrome 28
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 1
Condition: not provided
Bardet-Biedl syndrome 13

Criteria Provided
Multiple Submitters
No Conflicts

CA400326384

rs_1555599412

6 SubmittersRCV000670245 RCV000701980 RCV002469247 RCV004719933 RCV003472123

NM_017777.4(MKS1):c.1A>G (p.Met1Val)

SNV
Unknown

Chr17:58219230

Likely pathogenic

Joubert syndrome 28
Meckel syndrome, type 1
Bardet-Biedl syndrome 13

No Assertion Criteria Provided

CA400328265

rs_1555601787

1 SubmittersRCV000674956

NM_031885.5(BBS2):c.1797+1G>A

SNV
Unknown

Chr16:56497742

Likely pathogenic

Bardet-Biedl syndrome 2

No Assertion Criteria Provided

CA395975759

rs_1555521489

1 SubmittersRCV000665792

NM_031885.5(BBS2):c.941-2A>C

SNV
Germline

Chr16:56502458

Pathogenic

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA395980939

rs_878962682

4 SubmittersRCV000674711 RCV001216723 RCV004817911

NM_031885.5(BBS2):c.471+1G>A

SNV
Germline

Chr16:56511158

Pathogenic

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395984291

rs_1555523584

3 SubmittersRCV000667351 RCV003523006

NM_017777.4(MKS1):c.1600C>T (p.Arg534Ter)

SNV
Germline

Chr17:58206159

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 13
Meckel syndrome, type 1
Joubert syndrome 28
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 1

Criteria Provided
Conflicting Classifications

CA292007497

rs_772719574

5 SubmittersRCV000669895 RCV001201422 RCV001830443

NM_017777.4(MKS1):c.858+1G>A

SNV
Germline

Chr17:58212981

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 13
Meckel syndrome, type 1
Joubert syndrome 28
Joubert syndrome 28
Meckel-Gruber syndrome
Joubert syndrome
Melanoma

Criteria Provided
Conflicting Classifications

CA8669388

rs_756102768

4 SubmittersRCV000672305 RCV002225110 RCV003767996 RCV005901498

NM_017777.4(MKS1):c.515+2T>G

SNV
Unknown

Chr17:58214739

Likely pathogenic

Joubert syndrome 28
Bardet-Biedl syndrome 13
Meckel syndrome, type 1

No Assertion Criteria Provided

CA400327107

rs_1376664664

1 SubmittersRCV000669368

NM_017777.4(MKS1):c.190+2T>C

SNV
Germline

Chr17:58218618

Likely pathogenic

Meckel syndrome, type 1
Joubert syndrome 28
Bardet-Biedl syndrome 13
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 1
Joubert syndrome 28
Condition: not provided
Bardet-Biedl syndrome 13
MKS1-related disorder
Hepatocellular carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA8669630

rs_375170572

12 SubmittersRCV000665861 RCV000800425 RCV001274929 RCV001580533 RCV001784235 RCV003472074 RCV004732989 RCV005901443

NM_017777.4(MKS1):c.1408-2A>G

SNV
Unknown

Chr17:58206549

Likely pathogenic

Meckel syndrome, type 1
Bardet-Biedl syndrome 13
Joubert syndrome 28

No Assertion Criteria Provided

CA400324788

rs_1555596943

1 SubmittersRCV000672643

NM_152384.3(BBS5):c.209-2A>G

SNV
Germline

Chr2:169487804

Likely pathogenic

Bardet-Biedl syndrome 5
Condition: not provided
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA349161306

rs_1477098739

6 SubmittersRCV000678526 RCV001529637 RCV003633534

NM_152384.3(BBS5):c.258+2T>C

SNV
Germline

Chr2:169487857

Likely pathogenic

Bardet-Biedl syndrome 5
Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA349161690

rs_1559122157

2 SubmittersRCV000678527 RCV005091977

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_024649.5(BBS1):c.1405C>T (p.Gln469Ter)

SNV
Germline

Chr11:66529884

Pathogenic

Bardet-Biedl syndrome 1
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA381423981

rs_1565289799

3 SubmittersRCV000678523 RCV003633533

NM_024685.4(BBS10):c.1767C>A (p.Tyr589Ter)

SNV
Germline

Chr12:76346218

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 10
Condition: not provided
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA385810000

rs_1565809409

6 SubmittersRCV000679936 RCV000760514 RCV001868300

NM_006642.5(SDCCAG8):c.546+1G>A

SNV
Germline

Chr1:243286398

Likely pathogenic

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16
SDCCAG8-related disorder
Ovarian serous cystadenocarcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA1483333

rs_756907665

4 SubmittersRCV000685971 RCV004535707 RCV005901609

NM_152384.3(BBS5):c.143-1G>C

SNV
Germline

Chr2:169487068

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 5
Condition: not provided
BBS5-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA59929664

rs_1054138918

5 SubmittersRCV000690428 RCV000763466 RCV002281124 RCV003392526

NM_152384.3(BBS5):c.817-1G>A

SNV
Germline

Chr2:169503094

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA349168528

rs_1466289570

1 SubmittersRCV000707557

NM_001278293.3(ARL6):c.185+1G>C

SNV
Germline

Chr3:97780221

Pathogenic

Bardet-Biedl syndrome 3
Retinitis pigmentosa 55
ARL6-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA353585855

rs_1559679965

2 SubmittersRCV000698473 RCV005231287

NM_198428.3(BBS9):c.1552+2T>A

SNV
Germline

Chr7:33352875

Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 9

Criteria Provided
Multiple Submitters
No Conflicts

CA367256346

rs_1563049863

2 SubmittersRCV000697584 RCV005034308

NM_012210.4(TRIM32):c.1857G>A (p.Pro619=)

SNV
Germline

Chr9:116699599

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5211220

rs_746299779

2 SubmittersRCV000705416 RCV000728625

NM_176824.3(BBS7):c.1786+1G>T

SNV
Germline

Chr4:121828618

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA358055499

rs_1560638613

1 SubmittersRCV000698964

NM_198428.3(BBS9):c.1789+1G>T

SNV
Germline

Chr7:33367863

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA4214489

rs_201938124

1 SubmittersRCV000691979

NM_025114.4(CEP290):c.508A>T (p.Lys170Ter)

SNV
Germline

Chr12:88130553

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Retinal dystrophy
Leber congenital amaurosis
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
Inborn genetic diseases
Bardet-Biedl syndrome 14
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA6712767

rs_772170760

7 SubmittersRCV000701688 RCV001073334 RCV001825379 RCV002499260 RCV002536346 RCV003465619 RCV005620388

NM_031885.5(BBS2):c.235A>C (p.Thr79Pro)

SNV
Germline

Chr16:56514563

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA395985834

rs_1387025330

2 SubmittersRCV000694867 RCV001830524

NM_024685.4(BBS10):c.999T>A (p.Cys333Ter)

SNV
Germline

Chr12:76346986

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA385813216

rs_1565809867

1 SubmittersRCV000699050

NM_025114.4(CEP290):c.2479C>G (p.Leu827Val)

SNV
Germline

Chr12:88109070

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Leber congenital amaurosis
Leber congenital amaurosis 10
Joubert syndrome 5
Condition: not provided
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Inborn genetic diseases
CEP290-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA6712327

rs_201569048

8 SubmittersRCV000689950 RCV001115045 RCV001115042 RCV001115044 RCV001829910 RCV001115041 RCV001115043 RCV001756171 RCV002477547 RCV004026344 RCV004527741 RCV005407885

NM_152384.3(BBS5):c.166A>G (p.Arg56Gly)

SNV
Germline

Chr2:169487092

Likely pathogenic

Bardet-Biedl syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA349161065

rs_1559121920

2 SubmittersRCV000735934 RCV003165941

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_198428.3(BBS9):c.113-2A>G

SNV
Germline

Chr7:33152699

Pathogenic

Bardet-Biedl syndrome

No Assertion Criteria Provided

CA367190171

rs_1562686929

1 SubmittersRCV000735940

NM_198428.3(BBS9):c.727G>A (p.Glu243Lys)

SNV
Germline

Chr7:33273036

Pathogenic

Bardet-Biedl syndrome

No Assertion Criteria Provided

CA367253957

rs_1562917450

1 SubmittersRCV000735943

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

4 SubmittersRCV000735917 RCV001724144 RCV003106027

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

SNV
Germline

Chr11:66529956

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA599866559

rs_1486200900

4 SubmittersRCV000735918 RCV000787533 RCV006704839

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_024685.4(BBS10):c.1143T>G (p.Tyr381Ter)

SNV
Germline

Chr12:76346842

Pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 10

Criteria Provided
Multiple Submitters
No Conflicts

CA385812597

rs_1340165752

5 SubmittersRCV000735923 RCV002485783

NM_024685.4(BBS10):c.198G>T (p.Arg66Ser)

SNV
Germline

Chr12:76347787

Pathogenic

Bardet-Biedl syndrome

No Assertion Criteria Provided

CA385816034

rs_1565810301

1 SubmittersRCV000735924

NM_033028.5(BBS4):c.76+1G>T

SNV
Germline

Chr15:72695229

Pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA393075595

rs_1465437164

3 SubmittersRCV000735932 RCV005004382

NM_033028.5(BBS4):c.157-3C>G

SNV
Germline

Chr15:72712241

Pathogenic

Bardet-Biedl syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA913190634

rs_1567412639

3 SubmittersRCV000735930 RCV001092610

NM_031885.5(BBS2):c.522T>A (p.Asp174Glu)

SNV
Germline

Chr16:56510871

Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 2
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74

Criteria Provided
Multiple Submitters
No Conflicts

CA8066026

rs_767373822

5 SubmittersRCV000735928 RCV003460994 RCV005021107

NM_170784.3(MKKS):c.792T>G (p.Tyr264Ter)

SNV
Germline

Chr20:10412723

Pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 6

Criteria Provided
Single Submitter

CA408232344

rs_74315397

2 SubmittersRCV000735914 RCV003472255

NM_170784.3(MKKS):c.492T>A (p.Cys164Ter)

SNV
Germline

Chr20:10413023

Pathogenic

Bardet-Biedl syndrome

No Assertion Criteria Provided

CA408232994

rs_1568666460

1 SubmittersRCV000735913

NM_170784.3(MKKS):c.295T>C (p.Cys99Arg)

SNV
Germline

Chr20:10413220

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome
McKusick-Kaufman syndrome
McKusick-Kaufman syndrome
McKusick-Kaufman syndrome
Bardet-Biedl syndrome 6

Criteria Provided
Conflicting Classifications

CA408233419

rs_1297985227

4 SubmittersRCV000735912 RCV002534487 RCV003987677 RCV005392323

NM_001177701.3(IFT27):c.352+1G>T

SNV
Germline

Chr22:36763918

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Condition: not provided
Bardet-Biedl syndrome 19
IFT27-related disorder
Hepatocellular carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA10212405

rs_780659194

5 SubmittersRCV000757977 RCV001035042 RCV001537637 RCV003392548 RCV005901765

NM_001177701.3(IFT27):c.107A>G (p.Tyr36Cys)

SNV
Germline

Chr22:36767790

Pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 19
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA411386313

rs_1569077441

3 SubmittersRCV000757976 RCV001537636 RCV005092059

NM_025114.4(CEP290):c.2251C>T (p.Arg751Ter)

SNV
Germline

Chr12:88111318

Pathogenic

Joubert syndrome 5
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Condition: not provided
Bardet-Biedl syndrome 14
Leber congenital amaurosis
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA6712362

rs_753884599

7 SubmittersRCV000710064 RCV001868322 RCV002493254 RCV003141716 RCV003465647 RCV006642531 RCV004817947

NM_025114.4(CEP290):c.4704+1G>T

SNV
Germline

Chr12:88084585

Pathogenic/Likely pathogenic

Condition: not provided
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385994328

rs_1565835538

3 SubmittersRCV000722624 RCV003465653

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_015910.7(WDPCP):c.1916-2A>G

SNV
Germline

Chr2:63174834

Likely pathogenic

Condition: not provided
Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA347056927

rs_763299856

2 SubmittersRCV000722697 RCV001042576

NM_006642.5(SDCCAG8):c.199G>T (p.Glu67Ter)

SNV
Germline

Chr1:243270236

Pathogenic

Condition: not provided
Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Single Submitter

CA345474419

rs_756518004

2 SubmittersRCV000723068 RCV001868922

NM_144596.4(TTC8):c.1231G>A (p.Gly411Arg)

SNV
Germline

Chr14:88872336

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome
TTC8-related disorder

Criteria Provided
Conflicting Classifications

CA7302694

rs_139773124

3 SubmittersRCV000732205 RCV001482236 RCV003928240

NM_015910.7(WDPCP):c.385C>G (p.Leu129Val)

SNV
Germline

Chr2:63439871

Conflicting classifications of pathogenicity

not specified
Bardet-Biedl syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1682480

rs_191796211

3 SubmittersRCV000732656 RCV000862781 RCV004588160

NM_024685.4(BBS10):c.372T>A (p.Ser124=)

SNV
Germline

Chr12:76347613

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome
Bardet-Biedl syndrome 10
BBS10-related disorder

Criteria Provided
Conflicting Classifications

CA6694365

rs_143366878

5 SubmittersRCV000732874 RCV001085007 RCV001111801 RCV003928244

NM_012210.4(TRIM32):c.807G>A (p.Leu269=)

SNV
Germline

Chr9:116698549

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome
TRIM32-related disorder

Criteria Provided
Conflicting Classifications

CA466916331

rs_1184553729

3 SubmittersRCV000733483 RCV001078802 RCV004748951

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_001278293.3(ARL6):c.361C>T (p.Arg121Cys)

SNV
Germline

Chr3:97788001

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome 3
Retinitis pigmentosa 55
not specified
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2505949

rs_202044896

4 SubmittersRCV000762374 RCV001372569 RCV004702398 RCV004817978

NM_176824.3(BBS7):c.763A>T (p.Lys255Ter)

SNV
Germline

Chr4:121853042

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA358064534

rs_1560658189

1 SubmittersRCV000782280

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

SNV
Germline

Chr11:66510705

Likely pathogenic

Bardet-Biedl syndrome
Retinal dystrophy
Bardet-Biedl syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA6123193

rs_772917364

3 SubmittersRCV000782273 RCV004817985 RCV006704860

NM_024685.4(BBS10):c.962A>G (p.Tyr321Cys)

SNV
Germline

Chr12:76347023

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 10
not specified

Criteria Provided
Conflicting Classifications

CA6694257

rs_771325212

4 SubmittersRCV000782276 RCV003461022 RCV005240543

NM_031885.5(BBS2):c.1062C>G (p.Asn354Lys)

SNV
Germline

Chr16:56502335

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395980433

rs_1567576202

2 SubmittersRCV000782277

NM_170784.3(MKKS):c.1235G>T (p.Cys412Phe)

SNV
Germline

Chr20:10407653

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
not specified

Criteria Provided
Conflicting Classifications

CA408231354

rs_1396840386

2 SubmittersRCV000782279 RCV004800574

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_176824.3(BBS7):c.1458C>A (p.Tyr486Ter)

SNV
Germline

Chr4:121835197

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA358058627

rs_1470030897

1 SubmittersRCV002536738

NM_033028.5(BBS4):c.1103A>G (p.Asp368Gly)

SNV
Germline

Chr15:72735179

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 4
Condition: not provided
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA7646887

rs_772548770

4 SubmittersRCV000778447 RCV003389830 RCV003768427

NM_017777.4(MKS1):c.370C>T (p.Arg124Ter)

SNV
Germline

Chr17:58216135

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 28
Meckel syndrome, type 1
Bardet-Biedl syndrome 13

Criteria Provided
Conflicting Classifications

CA292014691

rs_990955357

4 SubmittersRCV001389425 RCV001729702 RCV003989601 RCV003472305

NM_006642.5(SDCCAG8):c.220+2T>C

SNV
Germline

Chr1:243270259

Conflicting classifications of pathogenicity

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1483222

rs_757796329

2 SubmittersRCV001378522 RCV005480480

NM_006642.5(SDCCAG8):c.675+1G>A

SNV
Germline

Chr1:243293220

Likely pathogenic

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Single Submitter

CA40424077

rs_1022080658

1 SubmittersRCV002535630

NM_015910.7(WDPCP):c.209-1G>A

SNV
Germline

Chr2:63486587

Likely pathogenic

Bardet-Biedl syndrome 15
Bardet-Biedl syndrome
Heart defect - tongue hamartoma - polysyndactyly syndrome
Bardet-Biedl syndrome 15
Heart defect - tongue hamartoma - polysyndactyly syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA1682564

rs_767481770

4 SubmittersRCV000778623 RCV002536736 RCV005036097 RCV005358032

NM_170784.3(MKKS):c.1272+1G>A

SNV
Germline

Chr20:10407615

Pathogenic

Bardet-Biedl syndrome
McKusick-Kaufman syndrome
Uterine corpus endometrial carcinoma

Criteria Provided
Single Submitter

CA9763519

rs_755716827

2 SubmittersRCV003768430 RCV005897386

NM_024685.4(BBS10):c.1407T>G (p.Tyr469Ter)

SNV
Germline

Chr12:76346578

Pathogenic

Bardet-Biedl syndrome 10
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA385811237

rs_1356713858

3 SubmittersRCV000779832 RCV006464214

NM_006642.5(SDCCAG8):c.1120C>T (p.Arg374Ter)

SNV
Germline

Chr1:243330591

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 16
SDCCAG8-related disorder
Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Multiple Submitters
No Conflicts

CA345482584

rs_770084716

4 SubmittersRCV000785890 RCV004535915 RCV005029443

NM_152384.3(BBS5):c.386+1G>T

SNV
Germline

Chr2:169488115

Likely pathogenic

Bardet-Biedl syndrome 5

Criteria Provided
Single Submitter

CA349163376

rs_1559122277

1 SubmittersRCV000785901

NM_025114.4(CEP290):c.5776C>T (p.Arg1926Ter)

SNV
Germline

Chr12:88071860

Pathogenic/Likely pathogenic

Joubert syndrome 5
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Condition: not provided
Bardet-Biedl syndrome 14
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA6711646

rs_561598805

7 SubmittersRCV000785894 RCV001207057 RCV001784396 RCV003467316 RCV005004418 RCV006642605

NM_031885.5(BBS2):c.345+5G>A

SNV
Germline

Chr16:56514448

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome
not specified

Criteria Provided
Conflicting Classifications

CA622656273

rs_1430976492

3 SubmittersRCV000785922 RCV001377154 RCV001797793

NM_025114.4(CEP290):c.6871C>T (p.Gln2291Ter)

SNV
Unknown

Chr12:88055665

Pathogenic

Leber congenital amaurosis
Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

CA385976524

rs_1592726020

2 SubmittersRCV000787561 RCV003467319

NM_170784.3(MKKS):c.890T>C (p.Ile297Thr)

SNV
Germline

Chr20:10412625

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome
McKusick-Kaufman syndrome
Bardet-Biedl syndrome 6
McKusick-Kaufman syndrome
Bardet-Biedl syndrome 6

Criteria Provided
Conflicting Classifications

CA9763608

rs_147704542

4 SubmittersRCV000787622 RCV001312663 RCV003472325 RCV005029449

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

SNV
Germline

Chr11:66523885

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Retinitis pigmentosa
Bardet-Biedl syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA224077259

rs_762276925

3 SubmittersRCV000787532 RCV000787786 RCV005606710

NM_025114.4(CEP290):c.5587-1G>C

SNV
Germline

Chr12:88077345

Pathogenic/Likely pathogenic

Leber congenital amaurosis
Retinal dystrophy
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Condition: not provided
Meckel syndrome, type 4
Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA241153138

rs_968692633

10 SubmittersRCV000787560 RCV001073923 RCV001244155 RCV001090823 RCV002493435 RCV003467318

NM_015662.3(IFT172):c.4209G>C (p.Gln1403His)

SNV
Germline

Chr2:27449514

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
IFT172-related disorder
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1579689

rs_149065251

4 SubmittersRCV000794291 RCV004549870 RCV005029457 RCV004629327

NM_015662.3(IFT172):c.449G>C (p.Gly150Ala)

SNV
Germline

Chr2:27483613

Conflicting classifications of pathogenicity

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Inborn genetic diseases
IFT172-related disorder
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
Short-rib thoracic dysplasia 10 with or without polydactyly

Criteria Provided
Conflicting Classifications

CA1580981

rs_368343162

4 SubmittersRCV000804395 RCV002537178 RCV004549880 RCV005029476

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_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

15 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
Inborn genetic diseases
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA6123770

rs_745656125

8 SubmittersRCV000804705 RCV001273360 RCV002534792 RCV003128709 RCV004818039

NM_024685.4(BBS10):c.886G>A (p.Ala296Thr)

SNV
Germline

Chr12:76347099

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 10
not specified
Condition: not provided
Inborn genetic diseases
BBS10-related disorder

Criteria Provided
Conflicting Classifications

CA6694269

rs_150587582

8 SubmittersRCV000814869 RCV001276474 RCV001816892 RCV001702720 RCV002537389 RCV003411796

NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro)

SNV
Germline

Chr12:88071859

Pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Joubert syndrome 1
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Retinitis pigmentosa
CEP290-related disorder
Joubert syndrome 5
Leber congenital amaurosis
CEP290-related ciliopathy

Reviewed By Expert Panel

CA241150716

rs_778030031

9 SubmittersRCV000815985 RCV000988881 RCV002495153 RCV003467476 RCV003324535 RCV004733054 RCV005870904 RCV006642661 RCV006732189

NM_025114.4(CEP290):c.4040G>A (p.Trp1347Ter)

SNV
Germline

Chr12:88087934

Pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Bardet-Biedl syndrome 14
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6

Criteria Provided
Multiple Submitters
No Conflicts

CA385999345

rs_1339975972

4 SubmittersRCV000820623 RCV003467498 RCV005004450

NM_025114.4(CEP290):c.3802C>T (p.Gln1268Ter)

SNV
Germline

Chr12:88089259

Pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Leber congenital amaurosis
Bardet-Biedl syndrome 14
CEP290-related ciliopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA386000671

rs_1468942944

4 SubmittersRCV000823686 RCV001830822 RCV003467520 RCV006545565

NM_025114.4(CEP290):c.1645C>T (p.Arg549Ter)

SNV
Germline

Chr12:88118549

Pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Leber congenital amaurosis
Condition: not provided
CEP290-related disorder
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA6712499

rs_760415289

10 SubmittersRCV000810414 RCV001274127 RCV001091339 RCV004733051 RCV002487758 RCV004818045 RCV003467439

NM_025114.4(CEP290):c.322C>T (p.Arg108Ter)

SNV
Germline

Chr12:88136762

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Night blindness
Leber congenital amaurosis
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
CEP290-related disorder
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
CEP290-related ciliopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA385987715

rs_1290241933

9 SubmittersRCV000810939 RCV001030763 RCV001274136 RCV001542774 RCV002290458 RCV004733052 RCV005004443 RCV005633729

NM_033028.5(BBS4):c.626G>A (p.Gly209Glu)

SNV
Germline

Chr15:72727978

Pathogenic

Bardet-Biedl syndrome
BBS4-related disorder

Criteria Provided
Single Submitter

CA7646697

rs_372822977

2 SubmittersRCV000819631 RCV004749472

NM_031885.5(BBS2):c.950A>G (p.Tyr317Cys)

SNV
Germline

Chr16:56502447

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 2
BBS2-related ciliopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA395980865

rs_1597016660

3 SubmittersRCV000803214 RCV001825586 RCV005633713

NM_031885.5(BBS2):c.642C>T (p.Gly214=)

SNV
Germline

Chr16:56506195

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 2
BBS2-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA8065973

rs_141563594

5 SubmittersRCV000805280 RCV001119863 RCV004538101 RCV004818040

NM_170784.3(MKKS):c.749G>A (p.Gly250Glu)

SNV
Germline

Chr20:10412766

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
McKusick-Kaufman syndrome
MKKS-related disorder

Criteria Provided
Conflicting Classifications

CA311323598

rs_972466774

2 SubmittersRCV000804082 RCV004538100

NM_006642.5(SDCCAG8):c.307-1G>A

SNV
Germline

Chr1:243274542

Likely pathogenic

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Single Submitter

CA345476808

rs_1460888769

1 SubmittersRCV000804204

NM_176824.3(BBS7):c.1371+1G>A

SNV
Germline

Chr4:121839630

Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 7

Criteria Provided
Multiple Submitters
No Conflicts

CA358060018

rs_1578537379

2 SubmittersRCV000820079 RCV003461265

NM_025114.4(CEP290):c.3104-5T>G

SNV
Germline

Chr12:88093980

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6

Criteria Provided
Multiple Submitters
No Conflicts

CA693075676

rs_1302558061

2 SubmittersRCV000824247 RCV005004455

NM_025114.4(CEP290):c.3976A>G (p.Lys1326Glu)

SNV
Germline

Chr12:88089085

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
CEP290-related disorder
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6

Criteria Provided
Conflicting Classifications

CA6712051

rs_377156725

4 SubmittersRCV000827318 RCV002538257 RCV004733059 RCV005004458

NM_177965.4(CFAP418):c.130C>T (p.Gln44Ter)

SNV
Unknown

Chr8:95269060

Likely pathogenic

Bardet-biedl syndrome 21

Criteria Provided
Single Submitter

CA4815265

rs_751922029

1 SubmittersRCV001000091

NM_024685.4(BBS10):c.1871C>G (p.Ser624Ter)

SNV
Germline

Chr12:76346114

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 10
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA6694091

rs_768385647

4 SubmittersRCV000844893 RCV003768609

NM_025103.4(IFT74):c.163A>T (p.Ile55Leu)

SNV
Germline

Chr9:26978170

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 22
not specified
Condition: not provided
Inborn genetic diseases
IFT74-related disorder

Criteria Provided
Conflicting Classifications

CA5014837

rs_62542664

8 SubmittersRCV000845086 RCV001579763 RCV001727806 RCV002538343 RCV003975363

NM_025114.4(CEP290):c.4805C>T (p.Thr1602Met)

SNV
Germline

Chr12:88083854

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Meckel syndrome, type 4
Leber congenital amaurosis
Retinal dystrophy
CEP290-related disorder
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Inborn genetic diseases
Bardet-Biedl syndrome 14
not specified

Criteria Provided
Conflicting Classifications

CA6711864

rs_369451049

9 SubmittersRCV001244303 RCV001000093 RCV001830860 RCV003889992 RCV004538167 RCV005012383 RCV004029250 RCV003448352 RCV006459974

NM_015910.7(WDPCP):c.924A>G (p.Val308=)

SNV
Germline

Chr2:63404559

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 15
WDPCP-related disorder

Criteria Provided
Conflicting Classifications

CA1682310

rs_201844706

3 SubmittersRCV000862259 RCV001138211 RCV003928342

NM_015910.7(WDPCP):c.868C>T (p.Arg290Cys)

SNV
Germline

Chr2:63404615

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 15
WDPCP-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1682318

rs_374934704

4 SubmittersRCV000861730 RCV001138213 RCV003938213 RCV005762114

NM_015910.7(WDPCP):c.220G>C (p.Gly74Arg)

SNV
Germline

Chr2:63486575

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 15
Condition: not provided
WDPCP-related disorder
Heart defect - tongue hamartoma - polysyndactyly syndrome
Bardet-Biedl syndrome 15

Criteria Provided
Conflicting Classifications

CA1682561

rs_200170138

6 SubmittersRCV000860585 RCV001138637 RCV003424378 RCV003928323 RCV005036242

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_198428.3(BBS9):c.195C>T (p.Ala65=)

SNV
Germline

Chr7:33152783

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 9
BBS9-related disorder

Criteria Provided
Conflicting Classifications

CA4213895

rs_373063776

3 SubmittersRCV000861297 RCV001161550 RCV003928329

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_024685.4(BBS10):c.1590A>C (p.Arg530Ser)

SNV
Germline

Chr12:76346395

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 10
Condition: not provided
BBS10-related disorder

Criteria Provided
Conflicting Classifications

CA6694143

rs_146812823

7 SubmittersRCV000863934 RCV001112170 RCV001355061 RCV003928362

NM_024685.4(BBS10):c.1412A>T (p.Asp471Val)

SNV
Germline

Chr12:76346573

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 10

Criteria Provided
Conflicting Classifications

CA6694178

rs_200718870

3 SubmittersRCV000860647 RCV001274505

NM_024685.4(BBS10):c.375G>A (p.Arg125=)

SNV
Germline

Chr12:76347610

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 10

Criteria Provided
Conflicting Classifications

CA6694363

rs_376030299

2 SubmittersRCV000863571 RCV001111800

NM_025114.4(CEP290):c.5164A>G (p.Thr1722Ala)

SNV
Germline

Chr12:88080244

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Senior-Loken syndrome 6
Condition: not provided
CEP290-related disorder
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6

Criteria Provided
Conflicting Classifications

CA6711785

rs_375817905

6 SubmittersRCV000862577 RCV001273060 RCV003227872 RCV003313158 RCV004538193 RCV005012385

NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly)

SNV
Germline

Chr12:88111821

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Leber congenital amaurosis
Condition: not provided
Meckel syndrome, type 4
CEP290-related disorder
CEP290-related ciliopathy

Criteria Provided
Conflicting Classifications

CA6712401

rs_200454865

8 SubmittersRCV000860704 RCV001111804 RCV001111805 RCV001111806 RCV001112276 RCV001275033 RCV001546810 RCV001111807 RCV004538174 RCV005359613

NM_144596.4(TTC8):c.1328G>A (p.Arg443Gln)

SNV
Germline

Chr14:88872433

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7302714

rs_746920262

2 SubmittersRCV001451043 RCV003169103

NM_031885.5(BBS2):c.995G>A (p.Ser332Asn)

SNV
Germline

Chr16:56502402

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 2
BBS2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8065849

rs_199655331

4 SubmittersRCV000861456 RCV001273912 RCV004733066 RCV005865405

NM_170784.3(MKKS):c.15A>G (p.Glu5=)

SNV
Germline

Chr20:10413500

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
McKusick-Kaufman syndrome
McKusick-Kaufman syndrome
Bardet-Biedl syndrome 6
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9763762

rs_145396188

3 SubmittersRCV000862032 RCV002495225 RCV003227871

NM_198428.3(BBS9):c.1538-9G>T

SNV
Germline

Chr7:33352850

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 9

Criteria Provided
Conflicting Classifications

CA4214389

rs_770317221

2 SubmittersRCV000862977 RCV001158452

NM_015910.7(WDPCP):c.1575C>T (p.Ser525=)

SNV
Germline

Chr2:63381955

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 15
WDPCP-related disorder

Criteria Provided
Conflicting Classifications

CA1682189

rs_375693256

3 SubmittersRCV000869697 RCV001142951 RCV003955664

NM_015910.7(WDPCP):c.990A>G (p.Ser330=)

SNV
Germline

Chr2:63404493

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 15
Condition: not provided
WDPCP-related disorder
Bardet-Biedl syndrome 15
Heart defect - tongue hamartoma - polysyndactyly syndrome

Criteria Provided
Conflicting Classifications

CA1682303

rs_371090606

5 SubmittersRCV000868083 RCV001138210 RCV003424399 RCV003918396 RCV005029524

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

Criteria Provided
Conflicting Classifications

CA6123843

rs_148948642

8 SubmittersRCV000866224 RCV001772161 RCV001107216 RCV003889995 RCV003938274 RCV005367601

NM_024685.4(BBS10):c.1265G>A (p.Arg422Gln)

SNV
Germline

Chr12:76346720

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 10
Condition: not provided
BBS10-related disorder

Criteria Provided
Conflicting Classifications

CA6694199

rs_138961848

5 SubmittersRCV000866478 RCV001825730 RCV004707432 RCV003965709

NM_024685.4(BBS10):c.462G>A (p.Leu154=)

SNV
Germline

Chr12:76347523

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 10

Criteria Provided
Conflicting Classifications

CA6694337

rs_764687344

3 SubmittersRCV000867399 RCV001109509

NM_025114.4(CEP290):c.5421A>G (p.Thr1807=)

SNV
Germline

Chr12:88077862

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis 10
Joubert syndrome 5
Meckel syndrome, type 4
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6711720

rs_370464321

4 SubmittersRCV000868428 RCV001112881 RCV001114240 RCV001112880 RCV001114242 RCV001114241 RCV001273057 RCV005306188

NM_025114.4(CEP290):c.5127G>T (p.Gln1709His)

SNV
Germline

Chr12:88080281

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
CEP290-related disorder
Condition: not provided
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6

Criteria Provided
Conflicting Classifications

CA6711789

rs_757738553

5 SubmittersRCV000869753 RCV001110312 RCV001110314 RCV001110313 RCV001110315 RCV001110316 RCV004538287 RCV004797884 RCV005012389

NM_025114.4(CEP290):c.3498T>G (p.Val1166=)

SNV
Germline

Chr12:88090803

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
CEP290-related disorder
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6

Criteria Provided
Conflicting Classifications

CA6712129

rs_750099379

3 SubmittersRCV000865008 RCV004733070 RCV005012386

NM_025114.4(CEP290):c.2873C>T (p.Ser958Phe)

SNV
Germline

Chr12:88102956

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis
CEP290-related disorder
Genetic developmental and epileptic encephalopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6712248

rs_546463648

6 SubmittersRCV000868237 RCV001113520 RCV001113516 RCV001113517 RCV001113518 RCV001113519 RCV001275027 RCV004540210 RCV005626246 RCV006732237

NM_025114.4(CEP290):c.2638G>T (p.Ala880Ser)

SNV
Germline

Chr12:88106854

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis 10
Leber congenital amaurosis
Kidney disorder
Retinal dystrophy
CEP290-related disorder
CEP290-related ciliopathy

Criteria Provided
Conflicting Classifications

CA6712294

rs_147362398

7 SubmittersRCV000864755 RCV001111623 RCV001111624 RCV001111620 RCV001111621 RCV001111622 RCV001275029 RCV002294390 RCV003889993 RCV004538226 RCV005359621

NM_031885.5(BBS2):c.126T>G (p.Ile42Met)

SNV
Germline

Chr16:56514672

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 2
BBS2-related disorder

Criteria Provided
Conflicting Classifications

CA8066105

rs_139945733

4 SubmittersRCV000867744 RCV001121842 RCV004538260

NM_017777.4(MKS1):c.1209G>A (p.Ser403=)

SNV
Germline

Chr17:58207958

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Bardet-Biedl syndrome 13
Meckel syndrome, type 1

Criteria Provided
Conflicting Classifications

CA8669231

rs_770493819

3 SubmittersRCV000866054 RCV001123684 RCV001123685

NM_017777.4(MKS1):c.729G>A (p.Thr243=)

SNV
Germline

Chr17:58213785

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Bardet-Biedl syndrome 13
Meckel syndrome, type 1
MKS1-related disorder

Criteria Provided
Conflicting Classifications

CA8669436

rs_373491923

4 SubmittersRCV000868086 RCV001128410 RCV001128411 RCV004540208

NM_033028.5(BBS4):c.405+7A>G

SNV
Germline

Chr15:72716857

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 4
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA7646610

rs_778651927

2 SubmittersRCV001115697 RCV001455030

NM_006642.5(SDCCAG8):c.744C>T (p.Asn248=)

SNV
Germline

Chr1:243307992

Conflicting classifications of pathogenicity

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16
Senior-Loken syndrome 7
Bardet-Biedl syndrome 16
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1483443

rs_138449445

3 SubmittersRCV000873954 RCV001095980 RCV001095979 RCV006650514

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_024685.4(BBS10):c.1975A>T (p.Ile659Leu)

SNV
Germline

Chr12:76346010

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 10
BBS10-related disorder
BBS10-related ciliopathy

Criteria Provided
Conflicting Classifications

CA6694065

rs_771355732

5 SubmittersRCV000875201 RCV001111720 RCV003948225 RCV005359633

NM_025114.4(CEP290):c.1057C>T (p.Leu353=)

SNV
Germline

Chr12:88126324

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6

Criteria Provided
Conflicting Classifications

CA241155305

rs_1036812157

2 SubmittersRCV000872788 RCV005012390

NM_031885.5(BBS2):c.1470C>T (p.Asp490=)

SNV
Germline

Chr16:56499835

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74

Criteria Provided
Conflicting Classifications

CA8065725

rs_370024579

2 SubmittersRCV001469670 RCV005021270

NM_031885.5(BBS2):c.1284C>T (p.His428=)

SNV
Germline

Chr16:56500967

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome
BBS2-related disorder

Criteria Provided
Conflicting Classifications

CA8065771

rs_757521927

3 SubmittersRCV001118323 RCV001426474 RCV004538345

NM_031885.5(BBS2):c.266A>G (p.Tyr89Cys)

SNV
Germline

Chr16:56514532

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 2
not specified
BBS2-related disorder

Criteria Provided
Conflicting Classifications

CA8066088

rs_560910758

5 SubmittersRCV000874389 RCV001121839 RCV001844244 RCV004541729

NM_006642.5(SDCCAG8):c.1474-6C>T

SNV
Germline

Chr1:243378715

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 16
Senior-Loken syndrome 7
Bardet-Biedl syndrome 16
Senior-Loken syndrome 7
Condition: not provided
Sarcoma

Criteria Provided
Conflicting Classifications

CA1483660

rs_376414138

6 SubmittersRCV000873379 RCV001099562 RCV001101536 RCV001701459 RCV005907143

NM_015662.3(IFT172):c.3921C>T (p.Asn1307=)

SNV
Germline

Chr2:27453414

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71

Criteria Provided
Conflicting Classifications

CA1579824

rs_377211687

2 SubmittersRCV000945387 RCV005029541

NM_024685.4(BBS10):c.147G>A (p.Arg49=)

SNV
Germline

Chr12:76348212

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 10

Criteria Provided
Conflicting Classifications

CA480794219

rs_1592493118

3 SubmittersRCV000914637 RCV001111803

NM_001177701.3(IFT27):c.319G>A (p.Ala107Thr)

SNV
Germline

Chr22:36763952

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome
IFT27-related disorder

Criteria Provided
Conflicting Classifications

CA10212415

rs_576803886

3 SubmittersRCV000926632 RCV003224493 RCV003913132

NM_025114.4(CEP290):c.6358-5C>T

SNV
Germline

Chr12:88060999

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Senior-Loken syndrome 6
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Joubert syndrome 5
Leber congenital amaurosis
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6711508

rs_372986399

4 SubmittersRCV000915534 RCV001110040 RCV001110041 RCV001110042 RCV001110043 RCV001114082 RCV001272014 RCV004533513

NM_001278293.3(ARL6):c.442T>G (p.Cys148Gly)

SNV
Germline

Chr3:97788082

Conflicting classifications of pathogenicity

Retinitis pigmentosa 55
Bardet-Biedl syndrome 3
Condition: not provided
ARL6-related disorder

Criteria Provided
Conflicting Classifications

CA2505958

rs_148745414

3 SubmittersRCV000981691 RCV003141905 RCV003972988

NM_198428.3(BBS9):c.1604G>A (p.Cys535Tyr)

SNV
Germline

Chr7:33357906

Likely pathogenic

Bardet-Biedl syndrome 9

No Assertion Criteria Provided

CA367252135

rs_1326810030

1 SubmittersRCV000985132

NM_033028.5(BBS4):c.791G>T (p.Cys264Phe)

SNV
Germline

Chr15:72731384

Likely pathogenic

Bardet-Biedl syndrome 4
Cholangiocarcinoma
Malignant tumor of esophagus
Ovarian serous cystadenocarcinoma

No Assertion Criteria Provided

CA7646770

rs_200113494

2 SubmittersRCV000985187 RCV005912120 RCV005912118 RCV005912119

NM_170784.3(MKKS):c.116C>T (p.Pro39Leu)

SNV
Germline

Chr20:10413399

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 6
McKusick-Kaufman syndrome
MKKS-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA408233800

rs_1270369106

5 SubmittersRCV000985035 RCV003987753 RCV005225175 RCV005411623

NM_012210.4(TRIM32):c.1201A>T (p.Lys401Ter)

SNV
Germline

Chr9:116698943

Pathogenic

Sarcotubular myopathy
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA5211119

rs_747266069

2 SubmittersRCV000988245 RCV005092976

NM_025114.4(CEP290):c.6271-8T>G

SNV
Germline

Chr12:88062786

Pathogenic

Joubert syndrome 1
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
See cases
Bardet-Biedl syndrome 14
Leber congenital amaurosis
CEP290-related ciliopathy

Reviewed By Expert Panel

CA241147940

rs_1039146791

6 SubmittersRCV000988880 RCV001869357 RCV002252287 RCV003467551 RCV006642691 RCV006730389

NM_025114.4(CEP290):c.223A>G (p.Lys75Glu)

SNV
Germline

Chr12:88139522

Likely pathogenic

Joubert syndrome 1
Retinal dystrophy
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
not specified
Retinitis pigmentosa
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
CEP290-related ciliopathy

Reviewed By Expert Panel

CA6712876

rs_779010679

7 SubmittersRCV000988892 RCV001075119 RCV001210117 RCV003317407 RCV003324546 RCV005012415 RCV006730390

NM_031885.5(BBS2):c.1546C>T (p.Gln516Ter)

SNV
Unknown

Chr16:56498550

Pathogenic

Bardet-Biedl syndrome 2

Criteria Provided
Single Submitter

CA395977111

rs_1597012997

1 SubmittersRCV000989605

NM_025114.4(CEP290):c.7048C>T (p.Gln2350Ter)

SNV
Germline

Chr12:88053733

Pathogenic

Condition: not provided
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Bardet-Biedl syndrome 14
CEP290-related disorder
Retinal dystrophy
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Joubert syndrome 5
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA6711362

rs_375548374

8 SubmittersRCV000994952 RCV001386103 RCV003467556 RCV004536027 RCV004818114 RCV005012429 RCV006642701

NM_025114.4(CEP290):c.628A>T (p.Lys210Ter)

SNV
Germline

Chr12:88130309

Pathogenic/Likely pathogenic

Condition: not provided
Meckel syndrome, type 4
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA6712724

rs_763473957

3 SubmittersRCV000994957 RCV002286795 RCV004569838

NM_033028.5(BBS4):c.322G>A (p.Ala108Thr)

SNV
Germline

Chr15:72715392

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA393076887

rs_1595928075

2 SubmittersRCV000995386 RCV006464925

NM_152384.3(BBS5):c.2T>A (p.Met1Lys)

SNV
Germline

Chr2:169479555

Pathogenic

Bardet-Biedl syndrome 5
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA1956066

rs_767822498

2 SubmittersRCV001002712 RCV005093027

NM_025114.4(CEP290):c.5788A>T (p.Lys1930Ter)

SNV
Germline

Chr12:88071848

Pathogenic

Leber congenital amaurosis
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Bardet-Biedl syndrome 14
Retinal dystrophy
Joubert syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA385984785

rs_1592784618

6 SubmittersRCV001002935 RCV001860525 RCV003467562 RCV003890157 RCV004004474

NM_033028.5(BBS4):c.424G>A (p.Gly142Arg)

SNV
Germline

Chr15:72722812

Likely pathogenic

Bardet-Biedl syndrome

No Assertion Criteria Provided

CA393075649

rs_1595935759

1 SubmittersRCV001002880

NM_152384.3(BBS5):c.619-1G>C

SNV
Germline

Chr2:169497626

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Condition: not provided
Retinal dystrophy
Bardet-Biedl syndrome 5
Bardet-Biedl syndrome 1
BBS5-related disorder

Criteria Provided
Conflicting Classifications

CA1956261

rs_753234582

12 SubmittersRCV001002882 RCV001090460 RCV001073435 RCV001195902 RCV003229005 RCV004753163

NM_001278293.3(ARL6):c.291T>A (p.Ser97Arg)

SNV
Germline

Chr3:97784991

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
not specified

Criteria Provided
Conflicting Classifications

CA353587245

rs_2037381055

2 SubmittersRCV001199644 RCV002265923

NM_001278293.3(ARL6):c.528G>T (p.Trp176Cys)

SNV
Germline

Chr3:97791819

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA353589436

rs_2037751886

1 SubmittersRCV001199645

NM_176824.3(BBS7):c.790G>A (p.Gly264Arg)

SNV
Germline

Chr4:121853015

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Inborn genetic diseases
Bardet-Biedl syndrome 7

Criteria Provided
Conflicting Classifications

CA104766063

rs_932897330

3 SubmittersRCV001199440 RCV002549226 RCV004577952

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_024685.4(BBS10):c.578T>C (p.Leu193Ser)

SNV
Germline

Chr12:76347407

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA385814879

rs_1951767864

1 SubmittersRCV001199433

NM_033028.5(BBS4):c.129T>G (p.Tyr43Ter)

SNV
Germline

Chr15:72709752

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA393075869

rs_2065331681

1 SubmittersRCV001199436

NM_024685.4(BBS10):c.943C>T (p.Gln315Ter)

SNV
Germline

Chr12:76347042

Likely pathogenic

Bardet-Biedl syndrome 1

Criteria Provided
Single Submitter

CA385813506

rs_1592492255

1 SubmittersRCV001004384

NM_025114.4(CEP290):c.829G>T (p.Glu277Ter)

SNV
Germline

Chr12:88129717

Pathogenic/Likely pathogenic

Leber congenital amaurosis 10
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385984278

rs_45502896

4 SubmittersRCV001004996 RCV001860572 RCV002479201 RCV003467577

NM_031885.5(BBS2):c.685T>C (p.Tyr229His)

SNV
Germline

Chr16:56506152

Conflicting classifications of pathogenicity

Retinitis pigmentosa 74
Bardet-Biedl syndrome
Bardet-Biedl syndrome 2
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74
Condition: not provided
BBS2-related disorder

Criteria Provided
Conflicting Classifications

CA8065964

rs_778543585

6 SubmittersRCV001005003 RCV001061887 RCV001832327 RCV005021314 RCV004721700 RCV004733109

NM_015662.3(IFT172):c.2365C>T (p.Arg789Ter)

SNV
Germline

Chr2:27461346

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Bardet-Biedl syndrome 20

Criteria Provided
Multiple Submitters
No Conflicts

CA1580329

rs_202024173

6 SubmittersRCV001008014 RCV001213870 RCV003458171 RCV005021316 RCV005232044

NM_001278293.3(ARL6):c.535G>A (p.Asp179Asn)

SNV
Germline

Chr3:97791826

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA353589449

rs_2037752645

1 SubmittersRCV001199405

NM_001276379.2(LZTFL1):c.3G>A (p.Met1Ile)

SNV
Germline

Chr3:45913144

Likely pathogenic

Bardet-Biedl syndrome 17
LZTFL1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA352436756

rs_1354476372

4 SubmittersRCV001028045 RCV004749586

NM_025114.4(CEP290):c.297+1G>A

SNV
Germline

Chr12:88139144

Pathogenic

Leber congenital amaurosis 10
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Joubert syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA385988563

rs_878853360

3 SubmittersRCV001029956 RCV001380322 RCV002479228

NM_006642.5(SDCCAG8):c.696T>G (p.Tyr232Ter)

SNV
Germline

Chr1:243304733

Pathogenic/Likely pathogenic

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16
Bardet-Biedl syndrome
SDCCAG8-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA1483406

rs_772544112

4 SubmittersRCV001049952 RCV002469330 RCV004735940

NM_006642.5(SDCCAG8):c.1429G>C (p.Glu477Gln)

SNV
Germline

Chr1:243344287

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 16
Senior-Loken syndrome 7
not specified
Kidney disorder
SDCCAG8-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1483642

rs_556191085

6 SubmittersRCV001049051 RCV001819763 RCV002294436 RCV004528356 RCV004691320

NM_006642.5(SDCCAG8):c.1763T>A (p.Leu588Ter)

SNV
Germline

Chr1:243417986

Pathogenic

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Single Submitter

CA345667416

rs_2080721288

1 SubmittersRCV001040226

NM_152384.3(BBS5):c.567G>A (p.Trp189Ter)

SNV
Germline

Chr2:169493785

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA349165023

rs_1683644662

2 SubmittersRCV001059256 RCV005029641

NM_152384.3(BBS5):c.593A>G (p.Asn198Ser)

SNV
Germline

Chr2:169493811

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 5
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1956239

rs_369075832

6 SubmittersRCV001044081 RCV002468116 RCV002552544 RCV006279310

NM_015662.3(IFT172):c.4960A>G (p.Met1654Val)

SNV
Germline

Chr2:27445404

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
IFT172-related disorder

Criteria Provided
Conflicting Classifications

CA1579401

rs_529850410

3 SubmittersRCV001046318 RCV002479285 RCV004553583

NM_015662.3(IFT172):c.4811C>T (p.Thr1604Ile)

SNV
Germline

Chr2:27445933

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Condition: not provided
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
IFT172-related disorder

Criteria Provided
Conflicting Classifications

CA1579470

rs_115716101

4 SubmittersRCV001046263 RCV001759968 RCV002505580 RCV004738130

NM_015662.3(IFT172):c.4363C>T (p.Arg1455Trp)

SNV
Germline

Chr2:27448980

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Condition: not provided
Retinal dystrophy
IFT172-related disorder
Bardet-Biedl syndrome 20
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71

Criteria Provided
Conflicting Classifications

CA1579633

rs_184506506

5 SubmittersRCV001044874 RCV001550209 RCV003890180 RCV004553578 RCV005029603

NM_015662.3(IFT172):c.3674G>A (p.Arg1225Gln)

SNV
Germline

Chr2:27454019

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
not specified
Condition: not provided
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71
Asphyxiating thoracic dystrophy 1
Inborn genetic diseases
IFT172-related disorder

Criteria Provided
Conflicting Classifications

CA1579906

rs_141440865

7 SubmittersRCV001038571 RCV001819745 RCV001585938 RCV002489555 RCV003483758 RCV004031075 RCV004553570

NM_015662.3(IFT172):c.3268G>A (p.Val1090Met)

SNV
Germline

Chr2:27456614

Conflicting classifications of pathogenicity

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Inborn genetic diseases
Retinal dystrophy
IFT172-related disorder
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly

Criteria Provided
Conflicting Classifications

CA1580032

rs_76076247

5 SubmittersRCV001057892 RCV004031826 RCV003890205 RCV004547963 RCV002505617

NM_015662.3(IFT172):c.2857C>T (p.Arg953Cys)

SNV
Germline

Chr2:27458799

Conflicting classifications of pathogenicity

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
IFT172-related disorder
Inborn genetic diseases
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly

Criteria Provided
Conflicting Classifications

CA1580168

rs_762645007

4 SubmittersRCV001049835 RCV004738132 RCV005348279 RCV002481957

NM_015662.3(IFT172):c.2722C>T (p.Arg908Trp)

SNV
Germline

Chr2:27459443

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
IFT172-related disorder

Criteria Provided
Conflicting Classifications

CA1580207

rs_745644146

3 SubmittersRCV001051332 RCV002479318 RCV004738135

NM_015662.3(IFT172):c.1523G>A (p.Arg508His)

SNV
Germline

Chr2:27472251

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Condition: not provided
Retinal dystrophy
IFT172-related disorder
Bardet-Biedl syndrome 20
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71

Criteria Provided
Conflicting Classifications

CA1580626

rs_144868723

7 SubmittersRCV001053472 RCV002553321 RCV003890196 RCV004553592 RCV005021380

NM_015662.3(IFT172):c.1444G>A (p.Val482Ile)

SNV
Germline

Chr2:27472330

Conflicting classifications of pathogenicity

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Inborn genetic diseases
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly

Criteria Provided
Conflicting Classifications

CA1580643

rs_771104054

3 SubmittersRCV001055460 RCV002554386 RCV002482000

NM_015662.3(IFT172):c.1313C>T (p.Pro438Leu)

SNV
Germline

Chr2:27477229

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Condition: not provided
Bardet-Biedl syndrome 20
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Inborn genetic diseases
not specified
IFT172-related disorder

Criteria Provided
Conflicting Classifications

CA1580712

rs_367930028

7 SubmittersRCV001054271 RCV002291713 RCV002468131 RCV002553339 RCV003151274 RCV004553596

NM_015662.3(IFT172):c.590C>T (p.Pro197Leu)

SNV
Germline

Chr2:27481241

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
IFT172-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1580912

rs_368373262

5 SubmittersRCV001068624 RCV002482120 RCV004547974 RCV004590081

NM_015662.3(IFT172):c.235A>G (p.Thr79Ala)

SNV
Germline

Chr2:27485079

Conflicting classifications of pathogenicity

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Inborn genetic diseases
IFT172-related disorder

Criteria Provided
Conflicting Classifications

CA1581072

rs_752069515

4 SubmittersRCV001037389 RCV002479241 RCV004031029 RCV004553568

NM_015910.7(WDPCP):c.1789G>A (p.Val597Ile)

SNV
Germline

Chr2:63313271

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 15
Heart defect - tongue hamartoma - polysyndactyly syndrome
Inborn genetic diseases
WDPCP-related disorder

Criteria Provided
Conflicting Classifications

CA1682113

rs_776917693

4 SubmittersRCV001051427 RCV002497404 RCV002553255 RCV003938418

NM_015910.7(WDPCP):c.677A>T (p.Glu226Val)

SNV
Germline

Chr2:63433893

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 15
Heart defect - tongue hamartoma - polysyndactyly syndrome
Condition: not provided
WDPCP-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1682375

rs_774816454

6 SubmittersRCV001064039 RCV002505639 RCV003322848 RCV003405281 RCV004963083

NM_015910.7(WDPCP):c.655G>A (p.Gly219Ser)

SNV
Germline

Chr2:63433915

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 15
Heart defect - tongue hamartoma - polysyndactyly syndrome
Inborn genetic diseases
WDPCP-related disorder

Criteria Provided
Conflicting Classifications

CA1682379

rs_761312526

4 SubmittersRCV001054130 RCV002479329 RCV002553331 RCV003405260

NM_015910.7(WDPCP):c.10G>A (p.Glu4Lys)

SNV
Germline

Chr2:63588262

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
WDPCP-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1682660

rs_763789574

3 SubmittersRCV001059868 RCV003405271 RCV004963070

NM_176824.3(BBS7):c.1657C>T (p.Gln553Ter)

SNV
Germline

Chr4:121833250

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA358057104

rs_1394015094

1 SubmittersRCV001065130

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_198428.3(BBS9):c.832C>T (p.Arg278Ter)

SNV
Germline

Chr7:33273141

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Retinal dystrophy
Condition: not provided
Bardet-Biedl syndrome 9

Criteria Provided
Multiple Submitters
No Conflicts

CA4214117

rs_767005321

7 SubmittersRCV001061507 RCV001073836 RCV001702081 RCV003462590

NM_198428.3(BBS9):c.2623C>T (p.Pro875Ser)

SNV
Germline

Chr7:33604966

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 9
BBS9-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4214745

rs_755911247

4 SubmittersRCV001047034 RCV002481932 RCV004746211 RCV004963027

NM_012210.4(TRIM32):c.678C>A (p.Tyr226Ter)

SNV
Germline

Chr9:116698420

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA374649411

rs_398124253

1 SubmittersRCV001055372

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

4 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_024685.4(BBS10):c.1804G>C (p.Val602Leu)

SNV
Germline

Chr12:76346181

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Bardet-Biedl syndrome 10
BBS10-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA6694102

rs_778431173

5 SubmittersRCV001067371 RCV003229015 RCV003462601 RCV004740557

NM_024685.4(BBS10):c.1552C>T (p.Gln518Ter)

SNV
Germline

Chr12:76346433

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA385810926

rs_1951758601

1 SubmittersRCV001070903

NM_024685.4(BBS10):c.1025T>C (p.Ile342Thr)

SNV
Germline

Chr12:76346960

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA385813096

rs_1951764046

2 SubmittersRCV001044354 RCV004761898

NM_024685.4(BBS10):c.598A>T (p.Lys200Ter)

SNV
Germline

Chr12:76347387

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA385814827

rs_1951767589

1 SubmittersRCV001038598

NM_024685.4(BBS10):c.473C>A (p.Ser158Ter)

SNV
Germline

Chr12:76347512

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 10

Criteria Provided
Multiple Submitters
No Conflicts

CA6694333

rs_553291328

3 SubmittersRCV001058425 RCV003462573

NM_025114.4(CEP290):c.6836T>A (p.Leu2279Ter)

SNV
Germline

Chr12:88055700

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Retinal dystrophy
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Joubert syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA385976661

rs_2033943937

3 SubmittersRCV001063917 RCV001074527 RCV005012517

NM_025114.4(CEP290):c.2306T>C (p.Ile769Thr)

SNV
Germline

Chr12:88111263

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Joubert syndrome 5
Senior-Loken syndrome 6
Meckel syndrome, type 4
Condition: not provided
Leber congenital amaurosis
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6712356

rs_199583200

5 SubmittersRCV001057249 RCV001111727 RCV001111723 RCV001111725 RCV001111724 RCV001111726 RCV001562596 RCV001832517 RCV004536115

NM_025114.4(CEP290):c.1627G>T (p.Glu543Ter)

SNV
Germline

Chr12:88118567

Pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Leber congenital amaurosis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385979035

rs_1186821575

3 SubmittersRCV001047416 RCV001832446 RCV003467750

NM_025114.4(CEP290):c.367C>T (p.Gln123Ter)

SNV
Germline

Chr12:88136717

Pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Leber congenital amaurosis
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Joubert syndrome 5
CEP290-related disorder
Bardet-Biedl syndrome 14
Joubert syndrome 5
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA6712821

rs_770126103

7 SubmittersRCV001058714 RCV001832529 RCV002497434 RCV003228800 RCV003462577 RCV005253701 RCV005532835

NM_031885.5(BBS2):c.1666A>G (p.Ile556Val)

SNV
Germline

Chr16:56497874

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 2
Inborn genetic diseases
BBS2-related disorder
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74
Cervical cancer

Criteria Provided
Conflicting Classifications

CA8065644

rs_376380339

6 SubmittersRCV001056886 RCV001273907 RCV003160457 RCV004733134 RCV005021389 RCV005913526

NM_017777.4(MKS1):c.499C>T (p.Gln167Ter)

SNV
Germline

Chr17:58214757

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 1
Bardet-Biedl syndrome 13
Joubert syndrome 28

Criteria Provided
Multiple Submitters
No Conflicts

CA400327147

rs_1215189491

2 SubmittersRCV001061747 RCV005021402

NM_017777.4(MKS1):c.458C>A (p.Ser153Ter)

SNV
Germline

Chr17:58214798

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Bardet-Biedl syndrome 13

Criteria Provided
Multiple Submitters
No Conflicts

CA292013921

rs_903778224

2 SubmittersRCV001040339 RCV003473621

NM_017777.4(MKS1):c.322C>T (p.Arg108Cys)

SNV
Germline

Chr17:58216183

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 1
Condition: not provided
Bardet-Biedl syndrome 13
Joubert syndrome 28
Meckel syndrome, type 1
MKS1-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8669566

rs_201476674

6 SubmittersRCV001058713 RCV001827371 RCV002275203 RCV002468132 RCV004528365 RCV004031852

NM_170784.3(MKKS):c.1111T>A (p.Cys371Ser)

SNV
Germline

Chr20:10408678

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
McKusick-Kaufman syndrome
not specified
MKKS-related disorder
McKusick-Kaufman syndrome
Bardet-Biedl syndrome 6
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9763560

rs_144892179

5 SubmittersRCV001039666 RCV001819746 RCV004536072 RCV005029591 RCV005660017

NM_170784.3(MKKS):c.926G>A (p.Arg309His)

SNV
Germline

Chr20:10412589

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
McKusick-Kaufman syndrome
McKusick-Kaufman syndrome
Bardet-Biedl syndrome 6
Inborn genetic diseases
MKKS-related disorder

Criteria Provided
Conflicting Classifications

CA9763604

rs_199939179

4 SubmittersRCV001067388 RCV002497470 RCV002554518 RCV004545042

NM_170784.3(MKKS):c.121G>C (p.Gly41Arg)

SNV
Germline

Chr20:10413394

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
McKusick-Kaufman syndrome
McKusick-Kaufman syndrome
Bardet-Biedl syndrome 6
Condition: not provided
MKKS-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA9763737

rs_766132697

5 SubmittersRCV001043465 RCV002479273 RCV003490024 RCV004536080 RCV005414270

NM_176824.3(BBS7):c.601+3A>G

SNV
Germline

Chr4:121855486

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 7
BBS7-related disorder

Criteria Provided
Conflicting Classifications

CA3064467

rs_747555346

3 SubmittersRCV001039963 RCV002479256 RCV003396640

NM_152384.3(BBS5):c.143-1G>A

SNV
Germline

Chr2:169487068

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA349160977

rs_1054138918

1 SubmittersRCV001059630

NM_170784.3(MKKS):c.1161+3A>G

SNV
Germline

Chr20:10408625

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
McKusick-Kaufman syndrome
Bardet-Biedl syndrome 6
not specified
MKKS-related disorder

Criteria Provided
Conflicting Classifications

CA9763554

rs_192968747

4 SubmittersRCV001066770 RCV001332285 RCV004782637 RCV004545041

NM_025114.4(CEP290):c.1189+1G>A

SNV
Germline

Chr12:88125245

Pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Leber congenital amaurosis
Bardet-Biedl syndrome 14
Joubert syndrome 5
Bardet-Biedl syndrome 14
CEP290-related ciliopathy

Reviewed By Expert Panel

CA385981026

rs_2039659434

6 SubmittersRCV001063723 RCV001274129 RCV001814265 RCV003467821 RCV005633863

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_033028.5(BBS4):c.1248+1G>T

SNV
Germline

Chr15:72735967

Pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA393080261

rs_1419924139

2 SubmittersRCV001044016 RCV001784591

NM_024685.4(BBS10):c.1016T>A (p.Val339Asp)

SNV
Germline

Chr12:76346969

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA385813134

rs_1363498219

1 SubmittersRCV001172268

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_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_024685.4(BBS10):c.206T>A (p.Val69Glu)

SNV
Germline

Chr12:76347779

Conflicting classifications of pathogenicity

Retinal dystrophy
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA385816014

rs_1176176320

2 SubmittersRCV001074159 RCV002554702

NM_025114.4(CEP290):c.6892C>T (p.Gln2298Ter)

SNV
Germline

Chr12:88055644

Pathogenic/Likely pathogenic

Retinal dystrophy
Bardet-Biedl syndrome 14
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA385976380

rs_2033937635

3 SubmittersRCV001074469 RCV003469275 RCV003768995

NM_025114.4(CEP290):c.5254C>T (p.Arg1752Trp)

SNV
Germline

Chr12:88079202

Likely pathogenic

Retinal dystrophy
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Condition: not provided
Bardet-Biedl syndrome 14
CEP290-related disorder
Leber congenital amaurosis
CEP290-related ciliopathy

Reviewed By Expert Panel

CA6711749

rs_748471942

8 SubmittersRCV001074245 RCV001234472 RCV001759855 RCV003469274 RCV004733151 RCV006636590 RCV006730418

NM_025114.4(CEP290):c.2414T>C (p.Leu805Pro)

SNV
Germline

Chr12:88109135

Likely pathogenic

Retinal dystrophy
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Meckel syndrome, type 4
Leber congenital amaurosis
Bardet-Biedl syndrome 14
Inborn genetic diseases
CEP290-related ciliopathy

Reviewed By Expert Panel

CA6712335

rs_762633090

7 SubmittersRCV001075311 RCV001243657 RCV003331040 RCV001836118 RCV003469278 RCV005540273 RCV006730421

NM_176824.3(BBS7):c.342-2A>G

SNV
Germline

Chr4:121859180

Pathogenic/Likely pathogenic

Retinal dystrophy
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA358043526

rs_1560664459

2 SubmittersRCV001074183 RCV005093408

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

SNV
Germline

Chr11:66529954

Pathogenic/Likely pathogenic

Retinal dystrophy
Bardet-Biedl syndrome
Bardet-Biedl syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381424183

rs_1856699646

3 SubmittersRCV001074148 RCV003523058 RCV006636589

NM_025114.4(CEP290):c.6012-12T>A

SNV
Germline

Chr12:88068657

Pathogenic

Retinal dystrophy
Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA6711593

rs_752197734

5 SubmittersRCV001073239 RCV003469270 RCV005253708 RCV003768988 RCV006636583

NM_144596.4(TTC8):c.490-9C>A

SNV
Germline

Chr14:88841416

Conflicting classifications of pathogenicity

Retinal dystrophy
Bardet-Biedl syndrome
TTC8-related disorder

Criteria Provided
Conflicting Classifications

CA7302497

rs_770386094

3 SubmittersRCV001074700 RCV001301571 RCV004746233

NM_198428.3(BBS9):c.1693+1G>A

SNV
Germline

Chr7:33357996

Pathogenic/Likely pathogenic

Condition: not provided
Bardet-Biedl syndrome 9
Bardet-Biedl syndrome
BBS9-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA367252328

rs_1295000119

5 SubmittersRCV001092564 RCV003462637 RCV003523060 RCV004746238

NM_025114.4(CEP290):c.6797G>A (p.Trp2266Ter)

SNV
Germline

Chr12:88058869

Pathogenic/Likely pathogenic

Condition: not provided
Bardet-Biedl syndrome 14
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA385977236

rs_2034232539

4 SubmittersRCV001090821 RCV003469280 RCV003769016 RCV005012543

NM_025114.4(CEP290):c.6031C>T (p.Arg2011Ter)

SNV
Germline

Chr12:88068626

Pathogenic

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA241149784

rs_750073051

6 SubmittersRCV001090822 RCV002554821 RCV003469281 RCV005012544 RCV006636617

NM_025114.4(CEP290):c.1593C>A (p.Tyr531Ter)

SNV
Germline

Chr12:88118673

Pathogenic

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
Leber congenital amaurosis
CEP290-related ciliopathy

Reviewed By Expert Panel

CA6712521

rs_763559949

6 SubmittersRCV001091340 RCV002555950 RCV003469282 RCV006636624 RCV006730422

NM_025114.4(CEP290):c.2T>A (p.Met1Lys)

SNV
Germline

Chr12:88141306

Pathogenic

Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Joubert syndrome 5
CEP290-related disorder
Retinal dystrophy
Leber congenital amaurosis
CEP290-related ciliopathy

Reviewed By Expert Panel

CA6712933

rs_368984997

8 SubmittersRCV001091344 RCV001862693 RCV002482162 RCV004536141 RCV004813738 RCV006636625 RCV006730423

NM_006642.5(SDCCAG8):c.420+12A>G

SNV
Germline

Chr1:243274668

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 16
Senior-Loken syndrome 7
Bardet-Biedl syndrome 16
Senior-Loken syndrome 7

Criteria Provided
Conflicting Classifications

CA1139656728

rs_2068379887

2 SubmittersRCV001099443 RCV001099442 RCV003769063

NM_006642.5(SDCCAG8):c.741-7T>C

SNV
Germline

Chr1:243307982

Conflicting classifications of pathogenicity

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16
Senior-Loken syndrome 7
Bardet-Biedl syndrome 16
SDCCAG8-related disorder

Criteria Provided
Conflicting Classifications

CA1483442

rs_755931555

3 SubmittersRCV001095977 RCV001095978 RCV002554887 RCV004734010

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_024685.4(BBS10):c.1992A>G (p.Ala664=)

SNV
Germline

Chr12:76345993

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 10
Bardet-Biedl syndrome
BBS10-related disorder

Criteria Provided
Conflicting Classifications

CA6694061

rs_758730453

3 SubmittersRCV001111719 RCV001438649 RCV004740570

NM_024685.4(BBS10):c.1164C>T (p.Ser388=)

SNV
Germline

Chr12:76346821

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 10
Bardet-Biedl syndrome
BBS10-related disorder

Criteria Provided
Conflicting Classifications

CA481011371

rs_1484593364

3 SubmittersRCV001115138 RCV002069852 RCV004740573

NM_024685.4(BBS10):c.270T>G (p.Leu90=)

SNV
Germline

Chr12:76347715

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 10
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA6694376

rs_200390697

2 SubmittersRCV001111802 RCV001407940

NM_025114.4(CEP290):c.5814T>C (p.Thr1938=)

SNV
Germline

Chr12:88071822

Conflicting classifications of pathogenicity

Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA6711638

rs_752046733

2 SubmittersRCV001112805 RCV001112806 RCV001112807 RCV001112804 RCV001112803 RCV001462557

NM_025114.4(CEP290):c.5607T>C (p.Asn1869=)

SNV
Germline

Chr12:88077324

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel syndrome, type 4
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA241153115

rs_777353443

2 SubmittersRCV001110125 RCV001110126 RCV001110128 RCV001110127 RCV001110129 RCV002067798

NM_025114.4(CEP290):c.3717G>A (p.Glu1239=)

SNV
Germline

Chr12:88089344

Conflicting classifications of pathogenicity

Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Leber congenital amaurosis 10
Joubert syndrome 5
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA481077013

rs_1159465602

2 SubmittersRCV001113347 RCV001114719 RCV001113346 RCV001114717 RCV001114718 RCV001400067

NM_025114.4(CEP290):c.671C>T (p.Thr224Ile)

SNV
Germline

Chr12:88129875

Conflicting classifications of pathogenicity

Leber congenital amaurosis 10
Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Leber congenital amaurosis
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Joubert syndrome 5
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6712702

rs_200587974

6 SubmittersRCV001109864 RCV001109865 RCV001109862 RCV001109863 RCV001113893 RCV001244757 RCV001279936 RCV002497520 RCV003227912 RCV004538332

NM_025114.4(CEP290):c.54G>C (p.Leu18=)

SNV
Germline

Chr12:88141254

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5
Meckel syndrome, type 4
Leber congenital amaurosis 10
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA481055452

rs_886049885

3 SubmittersRCV001110742 RCV001110743 RCV001110744 RCV001110745 RCV001112728 RCV001502187 RCV005606766

NM_144596.4(TTC8):c.*93G>A

SNV
Germline

Chr14:88877503

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 8
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA264576056

rs_116740320

1 SubmittersRCV001116376 RCV001116377

NM_033028.5(BBS4):c.1A>G (p.Met1Val)

SNV
Germline

Chr15:72686228

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
BBS4-related disorder
Bardet-Biedl syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA7646416

rs_773109542

4 SubmittersRCV002556528 RCV004749606 RCV005005051

NM_033028.5(BBS4):c.684A>C (p.Ala228=)

SNV
Germline

Chr15:72729657

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 4
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA272645140

rs_35132058

2 SubmittersRCV001115698 RCV002069860

NM_033028.5(BBS4):c.1029C>T (p.Leu343=)

SNV
Germline

Chr15:72731719

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 4
Bardet-Biedl syndrome
BBS4-related disorder

Criteria Provided
Conflicting Classifications

CA272645602

rs_1000977139

3 SubmittersRCV001115699 RCV001446932 RCV003906215

NM_033028.5(BBS4):c.1083C>T (p.Tyr361=)

SNV
Germline

Chr15:72735159

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 4
Bardet-Biedl syndrome
BBS4-related disorder

Criteria Provided
Conflicting Classifications

CA7646883

rs_749282837

3 SubmittersRCV001117118 RCV001490458 RCV003906220

NM_033028.5(BBS4):c.1512G>A (p.Ala504=)

SNV
Germline

Chr15:72737539

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 4
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA7647060

rs_369958857

2 SubmittersRCV001118761 RCV003769168

NM_031885.5(BBS2):c.603A>C (p.Thr201=)

SNV
Germline

Chr16:56509966

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome
BBS2-related disorder

Criteria Provided
Conflicting Classifications

CA8065995

rs_768647514

3 SubmittersRCV001119864 RCV001503890 RCV004545073

NM_031885.5(BBS2):c.408G>A (p.Ala136=)

SNV
Germline

Chr16:56511222

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA8066055

rs_771554929

2 SubmittersRCV001119865 RCV001431197

NM_031885.5(BBS2):c.247T>C (p.Leu83=)

SNV
Germline

Chr16:56514551

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA495588647

rs_1567584842

2 SubmittersRCV001121840 RCV002556621

NM_031885.5(BBS2):c.1397+7C>A

SNV
Germline

Chr16:56500847

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA8065753

rs_771297840

2 SubmittersRCV001116872 RCV001427201

NM_031885.5(BBS2):c.1226-11C>T

SNV
Germline

Chr16:56501036

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA8065785

rs_371851180

2 SubmittersRCV001118324 RCV002069911

NM_017777.4(MKS1):c.*134C>T

SNV
Germline

Chr17:58205945

Conflicting classifications of pathogenicity

Meckel syndrome, type 1
Bardet-Biedl syndrome 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA292007194

rs_34224064

2 SubmittersRCV001122511 RCV001122510 RCV003413926

NM_017777.4(MKS1):c.498G>T (p.Arg166=)

SNV
Germline

Chr17:58214758

Conflicting classifications of pathogenicity

Meckel syndrome, type 1
Bardet-Biedl syndrome 13
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA8669503

rs_778956664

2 SubmittersRCV001122699 RCV001122698 RCV001477638

NM_017777.4(MKS1):c.1408-15A>G

SNV
Germline

Chr17:58206562

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 13
Meckel syndrome, type 1
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 1
Bardet-Biedl syndrome 13
Joubert syndrome 28

Criteria Provided
Conflicting Classifications

CA8669135

rs_762989365

3 SubmittersRCV001128315 RCV001128314 RCV001457699 RCV005021471

NM_017777.4(MKS1):c.1273+12T>A

SNV
Germline

Chr17:58207882

Conflicting classifications of pathogenicity

Meckel syndrome, type 1
Bardet-Biedl syndrome 13
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA8669212

rs_762439479

2 SubmittersRCV001122599 RCV001122600 RCV002070000

NM_015910.7(WDPCP):c.1576G>A (p.Ala526Thr)

SNV
Germline

Chr2:63381954

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 15
Heart defect - tongue hamartoma - polysyndactyly syndrome
WDPCP-related disorder
Bardet-Biedl syndrome 15
Inborn genetic diseases
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA1682188

rs_534102944

5 SubmittersRCV002497559 RCV003405350 RCV001142950 RCV005512915 RCV001372905

NM_015910.7(WDPCP):c.1080G>A (p.Ser360=)

SNV
Germline

Chr2:63404403

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 15
WDPCP-related disorder
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA1682289

rs_376164426

3 SubmittersRCV001138209 RCV004746250 RCV001482273

NM_015910.7(WDPCP):c.661A>G (p.Ile221Val)

SNV
Germline

Chr2:63433909

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
WDPCP-related disorder
Bardet-Biedl syndrome 15

Criteria Provided
Conflicting Classifications

CA1682378

rs_571641878

3 SubmittersRCV002556960 RCV003945856 RCV001138633

NM_015910.7(WDPCP):c.486C>T (p.Asp162=)

SNV
Germline

Chr2:63439770

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 15
Bardet-Biedl syndrome 15
Heart defect - tongue hamartoma - polysyndactyly syndrome
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA1682460

rs_372538263

3 SubmittersRCV001138635 RCV002480519 RCV005093614

NM_015910.7(WDPCP):c.255A>G (p.Ser85=)

SNV
Germline

Chr2:63484986

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 15
WDPCP-related disorder
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA426387494

rs_1252079324

3 SubmittersRCV001138636 RCV003973100 RCV001457258

NM_170784.3(MKKS):c.1670A>G (p.Asn557Ser)

SNV
Germline

Chr20:10405290

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
McKusick-Kaufman syndrome
Bardet-Biedl syndrome 6
McKusick-Kaufman syndrome
MKKS-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9763444

rs_554429487

4 SubmittersRCV001858933 RCV001142432 RCV001142433 RCV004538364 RCV005660055

NM_170784.3(MKKS):c.1645C>T (p.Leu549=)

SNV
Germline

Chr20:10405315

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 6
McKusick-Kaufman syndrome
Bardet-Biedl syndrome
McKusick-Kaufman syndrome

Criteria Provided
Conflicting Classifications

CA311318534

rs_1010755325

2 SubmittersRCV001142434 RCV001142435 RCV001399680

NM_170784.3(MKKS):c.180C>T (p.Ser60=)

SNV
Germline

Chr20:10413335

Conflicting classifications of pathogenicity

McKusick-Kaufman syndrome
Bardet-Biedl syndrome
McKusick-Kaufman syndrome
Bardet-Biedl syndrome 6

Criteria Provided
Conflicting Classifications

CA509815596

rs_2064909876

2 SubmittersRCV001140039 RCV003769654 RCV001137802

NM_015910.7(WDPCP):c.499+9C>T

SNV
Germline

Chr2:63439748

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 15

Criteria Provided
Conflicting Classifications

CA1682458

rs_746261282

2 SubmittersRCV002070628 RCV001138634

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_176824.3(BBS7):c.1890+15C>T

SNV
Germline

Chr4:121828387

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 7
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA3064115

rs_761350391

2 SubmittersRCV001150898 RCV002070824

NM_176824.3(BBS7):c.1306-5C>T

SNV
Germline

Chr4:121839701

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 7
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA554186486

rs_1475632900

2 SubmittersRCV001144796 RCV002559397

NM_198428.3(BBS9):c.715C>T (p.Leu239=)

SNV
Germline

Chr7:33273024

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 9
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA4214096

rs_751112173

2 SubmittersRCV001163080 RCV001467781

NM_198428.3(BBS9):c.1236C>T (p.Asn412=)

SNV
Germline

Chr7:33340934

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 9
Bardet-Biedl syndrome
BBS9-related disorder

Criteria Provided
Conflicting Classifications

CA4214224

rs_139235142

3 SubmittersRCV001165171 RCV001515929 RCV003945888

NM_198428.3(BBS9):c.1611A>C (p.Pro537=)

SNV
Germline

Chr7:33357913

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 9
Bardet-Biedl syndrome
BBS9-related disorder

Criteria Provided
Conflicting Classifications

CA4214445

rs_140411078

3 SubmittersRCV001161655 RCV001401416 RCV003945881

NM_198428.3(BBS9):c.2211G>A (p.Leu737=)

SNV
Germline

Chr7:33505558

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 9
Bardet-Biedl syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4214624

rs_144672900

3 SubmittersRCV001163184 RCV001470950 RCV006435170

NM_198428.3(BBS9):c.1537+14C>T

SNV
Germline

Chr7:33351337

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 9
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA4214364

rs_754694089

3 SubmittersRCV001158451 RCV003633556

NM_012210.4(TRIM32):c.978C>T (p.Asp326=)

SNV
Germline

Chr9:116698720

Conflicting classifications of pathogenicity

Sarcotubular myopathy
Bardet-Biedl syndrome 11
Bardet-Biedl syndrome
TRIM32-related disorder

Criteria Provided
Conflicting Classifications

CA5211081

rs_759707001

3 SubmittersRCV001254019 RCV001253943 RCV001460775 RCV004749639

NM_012210.4(TRIM32):c.1383C>T (p.Cys461=)

SNV
Germline

Chr9:116699125

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 11
Sarcotubular myopathy
Bardet-Biedl syndrome
TRIM32-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5211137

rs_200244154

4 SubmittersRCV001166675 RCV001168406 RCV002068020 RCV003963104 RCV003992454

NM_176824.3(BBS7):c.880G>C (p.Gly294Arg)

SNV
Unknown

Chr4:121848898

Pathogenic

Bardet-Biedl syndrome 7

Criteria Provided
Single Submitter

CA358063466

rs_1726157542

1 SubmittersRCV001170036

NM_024685.4(BBS10):c.1184A>G (p.His395Arg)

SNV
Germline

Chr12:76346801

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 10

Criteria Provided
Multiple Submitters
No Conflicts

CA16021327

rs_1368733646

5 SubmittersRCV001175029 RCV003462643

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_144596.4(TTC8):c.701G>A (p.Cys234Tyr)

SNV
Germline

Chr14:88853047

Likely pathogenic

Bardet-Biedl syndrome 8

No Assertion Criteria Provided

CA390544981

rs_1595959305

1 SubmittersRCV001175233

NM_017777.4(MKS1):c.367C>T (p.Arg123Ter)

SNV
Germline

Chr17:58216138

Pathogenic/Likely pathogenic

Meckel syndrome, type 1
Meckel-Gruber syndrome
Joubert syndrome
Bardet-Biedl syndrome 13
Condition: not provided
MKS1-related disorder
Bardet-Biedl syndrome 13
Meckel syndrome, type 1
Joubert syndrome 28

Criteria Provided
Multiple Submitters
No Conflicts

CA8669557

rs_762482919

7 SubmittersRCV001175216 RCV001389263 RCV003473720 RCV004720777 RCV004733171 RCV005021483

NM_006642.5(SDCCAG8):c.741-152G>A

SNV
Germline

Chr1:243307837

Pathogenic

Bardet-Biedl syndrome 16

No Assertion Criteria Provided

CA1139656727

rs_2072310236

1 SubmittersRCV001175223

NM_015910.7(WDPCP):c.2078+1G>T

SNV
Germline

Chr2:63174669

Pathogenic

Bardet-Biedl syndrome 15

No Assertion Criteria Provided

CA347056384

rs_1673664656

2 SubmittersRCV001175234

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_015662.3(IFT172):c.296G>A (p.Trp99Ter)

SNV
Germline

Chr2:27485018

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA346402206

rs_1668654133

1 SubmittersRCV001195537

NM_006642.5(SDCCAG8):c.1942C>T (p.Gln648Ter)

SNV
Unknown

Chr1:243426515

Likely pathogenic

Bardet-Biedl syndrome 16

Criteria Provided
Single Submitter

CA1483780

rs_367572249

1 SubmittersRCV001197817

NM_025114.4(CEP290):c.6012-2A>G

SNV
Germline

Chr12:88068647

Pathogenic

Joubert syndrome 5
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Leber congenital amaurosis
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10

Criteria Provided
Multiple Submitters
No Conflicts

CA241149791

rs_555755221

5 SubmittersRCV001198220 RCV001211579 RCV001828613 RCV003469314 RCV006697114

NM_025114.4(CEP290):c.3811C>T (p.Arg1271Ter)

SNV
Germline

Chr12:88089250

Pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Condition: not provided
Leber congenital amaurosis
Bardet-Biedl syndrome 14
Retinal dystrophy
Meckel syndrome, type 4
CEP290-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA386000654

rs_1412133967

10 SubmittersRCV001222226 RCV001529282 RCV001828771 RCV002283532 RCV004813908 RCV004546619 RCV005866870

NM_017777.4(MKS1):c.1222C>T (p.Gln408Ter)

SNV
Germline

Chr17:58207945

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Bardet-Biedl syndrome 13
Meckel syndrome, type 1
Joubert syndrome 28
Bardet-Biedl syndrome 13
Meckel syndrome, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA8669228

rs_781423785

4 SubmittersRCV001219659 RCV002497749 RCV003473772 RCV006636683

NM_015662.3(IFT172):c.2350C>T (p.Arg784Trp)

SNV
Germline

Chr2:27461361

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Condition: not provided
Inborn genetic diseases
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71
IFT172-related disorder

Criteria Provided
Conflicting Classifications

CA1580333

rs_137906877

5 SubmittersRCV001213704 RCV001586056 RCV002561823 RCV002504255 RCV004548069

NM_015662.3(IFT172):c.2158C>T (p.Arg720Cys)

SNV
Germline

Chr2:27461794

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Condition: not provided
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71
IFT172-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1580379

rs_147744868

5 SubmittersRCV001211918 RCV001751388 RCV003336334 RCV004548066 RCV006372242

NM_015910.7(WDPCP):c.193A>G (p.Lys65Glu)

SNV
Germline

Chr2:63487462

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 15
Heart defect - tongue hamartoma - polysyndactyly syndrome
WDPCP-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1682582

rs_750924240

4 SubmittersRCV001206018 RCV002497702 RCV004746268 RCV005772097

NM_001278293.3(ARL6):c.499G>A (p.Gly167Arg)

SNV
Germline

Chr3:97791790

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 3
Retinitis pigmentosa 55
ARL6-related disorder
Bardet-Biedl syndrome 1
Bardet-Biedl syndrome 3
Retinitis pigmentosa 55
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2505987

rs_764523283

4 SubmittersRCV001205616 RCV003938562 RCV005036459 RCV004726955

NM_176824.3(BBS7):c.68T>G (p.Leu23Arg)

SNV
Germline

Chr4:121868015

Pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 1

Criteria Provided
Single Submitter

CA358045960

rs_1727380420

2 SubmittersRCV001209646 RCV003229023

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_001195305.3(BBIP1):c.137T>C (p.Met46Thr)

SNV
Germline

Chr10:110900502

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome 18
not specified

Criteria Provided
Conflicting Classifications

CA5689317

rs_11548767

4 SubmittersRCV001204609 RCV002484107 RCV005772095

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

5 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_024685.4(BBS10):c.360G>A (p.Trp120Ter)

SNV
Germline

Chr12:76347625

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 10

Criteria Provided
Multiple Submitters
No Conflicts

CA385815448

rs_1951771573

2 SubmittersRCV001213955 RCV003462721

NM_025114.4(CEP290):c.1753C>T (p.Gln585Ter)

SNV
Germline

Chr12:88117104

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
CEP290-related ciliopathy

Reviewed By Expert Panel

CA385978257

rs_867094910

3 SubmittersRCV001203138 RCV004570424 RCV006730465

NM_144596.4(TTC8):c.4A>G (p.Ser2Gly)

SNV
Germline

Chr14:88824711

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Inborn genetic diseases
Retinitis pigmentosa 51
Bardet-Biedl syndrome 8
TTC8-related disorder

Criteria Provided
Conflicting Classifications

CA7302303

rs_759112760

4 SubmittersRCV001206292 RCV002561222 RCV002497706 RCV003405389

NM_033028.5(BBS4):c.1439C>T (p.Thr480Met)

SNV
Germline

Chr15:72736952

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 4
Inborn genetic diseases
BBS4-related disorder

Criteria Provided
Conflicting Classifications

CA7647022

rs_754792792

5 SubmittersRCV001202083 RCV004720295 RCV004963175 RCV004749617

NM_031885.5(BBS2):c.269A>G (p.Asp90Gly)

SNV
Germline

Chr16:56514529

Likely pathogenic

Bardet-Biedl syndrome
Retinitis pigmentosa 74
Bardet-Biedl syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA395985677

rs_1228731722

2 SubmittersRCV001213840 RCV005021511

NM_006642.5(SDCCAG8):c.221-1G>A

SNV
Germline

Chr1:243270977

Likely pathogenic

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Single Submitter

CA345474634

rs_2068036602

1 SubmittersRCV001207765

NM_031885.5(BBS2):c.718-2A>C

SNV
Germline

Chr16:56506038

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA395982863

rs_1964413705

2 SubmittersRCV001212618 RCV003462713

NM_031885.5(BBS2):c.1398-2A>G

SNV
Germline

Chr16:56499909

Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA8065742

rs_767609303

2 SubmittersRCV001220353 RCV006636684

NM_015662.3(IFT172):c.4868C>T (p.Thr1623Ile)

SNV
Germline

Chr2:27445791

Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
IFT172-related disorder
Bardet-Biedl syndrome 20
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71

Criteria Provided
Multiple Submitters
No Conflicts

CA1579441

rs_762958757

3 SubmittersRCV001227918 RCV004738202 RCV005029791

NM_015662.3(IFT172):c.2222G>A (p.Arg741His)

SNV
Germline

Chr2:27461489

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71
IFT172-related disorder

Criteria Provided
Conflicting Classifications

CA44498195

rs_1011923461

3 SubmittersRCV001234209 RCV002491756 RCV004548087

NM_015662.3(IFT172):c.2159G>A (p.Arg720His)

SNV
Germline

Chr2:27461793

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71
IFT172-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1580378

rs_202089120

4 SubmittersRCV001238742 RCV002491778 RCV004548089 RCV004813972

NM_015662.3(IFT172):c.1983T>A (p.His661Gln)

SNV
Germline

Chr2:27463136

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Condition: not provided
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71
IFT172-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1580465

rs_150739354

5 SubmittersRCV001229036 RCV001760224 RCV002484250 RCV004548081 RCV005851750

NM_015910.7(WDPCP):c.728C>T (p.Pro243Leu)

SNV
Germline

Chr2:63433842

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
WDPCP-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1682364

rs_368933340

3 SubmittersRCV001230461 RCV003426005 RCV004032702

NM_176824.3(BBS7):c.838C>T (p.Arg280Ter)

SNV
Germline

Chr4:121852967

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 7
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA3064401

rs_151275562

4 SubmittersRCV001810000 RCV001234439

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_024685.4(BBS10):c.226C>T (p.Leu76Phe)

SNV
Germline

Chr12:76347759

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
not specified
BBS10-related disorder
Bardet-Biedl syndrome 10

Criteria Provided
Conflicting Classifications

CA385815970

rs_767638924

4 SubmittersRCV001229600 RCV003331085 RCV004740622 RCV001836182

NM_025114.4(CEP290):c.3240T>G (p.Tyr1080Ter)

SNV
Germline

Chr12:88093839

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Joubert syndrome 5
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6

Criteria Provided
Multiple Submitters
No Conflicts

CA386006028

rs_886042467

2 SubmittersRCV001237935 RCV002504334

NM_025114.4(CEP290):c.1390G>T (p.Glu464Ter)

SNV
Germline

Chr12:88120246

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385980173

rs_1437841365

2 SubmittersRCV001230980 RCV003469413

NM_170784.3(MKKS):c.1098T>A (p.Asn366Lys)

SNV
Germline

Chr20:10408691

Conflicting classifications of pathogenicity

McKusick-Kaufman syndrome
Bardet-Biedl syndrome 6
Bardet-Biedl syndrome
McKusick-Kaufman syndrome
MKKS-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9763562

rs_147882975

5 SubmittersRCV002468200 RCV001232108 RCV004538487 RCV004695239

NM_170784.3(MKKS):c.748G>A (p.Gly250Arg)

SNV
Germline

Chr20:10412767

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome
McKusick-Kaufman syndrome
Bardet-Biedl syndrome 6
Bardet-Biedl syndrome
McKusick-Kaufman syndrome
MKKS-related disorder
Bardet-Biedl syndrome 6

Criteria Provided
Conflicting Classifications

CA9763635

rs_768929313

9 SubmittersRCV003128752 RCV002469358 RCV002480776 RCV001236723 RCV004734065 RCV003469438

NM_015662.3(IFT172):c.2218C>T (p.Arg740Cys)

SNV
Germline

Chr2:27461493

Conflicting classifications of pathogenicity

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
Short-rib thoracic dysplasia 10 with or without polydactyly
IFT172-related disorder

Criteria Provided
Conflicting Classifications

CA1580358

rs_187728607

3 SubmittersRCV001246027 RCV002484374 RCV004548099

NM_015662.3(IFT172):c.1157G>A (p.Arg386Gln)

SNV
Germline

Chr2:27478005

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Condition: not provided
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71

Criteria Provided
Conflicting Classifications

CA1580765

rs_137868356

3 SubmittersRCV001241107 RCV001549965 RCV002480803

NM_015662.3(IFT172):c.899G>A (p.Arg300Gln)

SNV
Germline

Chr2:27480036

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Condition: not provided
not specified
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71
IFT172-related disorder

Criteria Provided
Conflicting Classifications

CA1580840

rs_146332658

5 SubmittersRCV001240662 RCV001595073 RCV001819939 RCV002491796 RCV004548093

NM_001378454.1(ALMS1):c.11104C>T (p.Arg3702Ter)

SNV
Germline

Chr2:73572981

Pathogenic

Alstrom syndrome
Cardiovascular phenotype
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA1715121

rs_747747269

4 SubmittersRCV001246836 RCV002451604 RCV005626365

NM_198428.3(BBS9):c.761A>G (p.Asn254Ser)

SNV
Germline

Chr7:33273070

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Condition: not provided
Bardet-Biedl syndrome 9
BBS9-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA367254141

rs_1279852557

5 SubmittersRCV001247432 RCV002509640 RCV002504363 RCV004746295 RCV005520476

NM_001195305.3(BBIP1):c.116C>T (p.Pro39Leu)

SNV
Germline

Chr10:110900523

Conflicting classifications of pathogenicity

Condition: not provided
BBIP1-related disorder
Bardet-Biedl syndrome 18
not specified

Criteria Provided
Conflicting Classifications

CA213246806

rs_912754275

4 SubmittersRCV001240567 RCV003938571 RCV002484316 RCV006391824

NM_024685.4(BBS10):c.1837T>C (p.Tyr613His)

SNV
Germline

Chr12:76346148

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 10
BBS10-related disorder

Criteria Provided
Conflicting Classifications

CA6694098

rs_141647931

4 SubmittersRCV001239753 RCV001828936 RCV003414041

NM_025114.4(CEP290):c.5885G>A (p.Arg1962Lys)

SNV
Germline

Chr12:88071420

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Condition: not provided
Leber congenital amaurosis
Joubert syndrome 5
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Retinal dystrophy
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6711621

rs_562477272

6 SubmittersRCV001247983 RCV001760286 RCV001835317 RCV002499432 RCV003887972 RCV004538524

NM_025114.4(CEP290):c.1235C>T (p.Thr412Met)

SNV
Germline

Chr12:88121121

Conflicting classifications of pathogenicity

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Leber congenital amaurosis
Joubert syndrome 5
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
CEP290-related disorder
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6712594

rs_189280108

6 SubmittersRCV001244829 RCV001835216 RCV002504354 RCV004538514 RCV004720814 RCV004978200

NM_031885.5(BBS2):c.1797G>A (p.Lys599=)

SNV
Germline

Chr16:56497743

Likely pathogenic

Bardet-Biedl syndrome
BBS2-related disorder

Criteria Provided
Single Submitter

CA495586040

rs_1177431007

2 SubmittersRCV001247505 RCV004733213

NM_031885.5(BBS2):c.962C>T (p.Thr321Met)

SNV
Germline

Chr16:56502435

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74
Bardet-Biedl syndrome 2
BBS2-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8065856

rs_758548498

5 SubmittersRCV001243382 RCV001829026 RCV002484343 RCV004538507 RCV003365284

NM_170784.3(MKKS):c.175C>T (p.Gln59Ter)

SNV
Germline

Chr20:10413340

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
McKusick-Kaufman syndrome
Bardet-Biedl syndrome 6
Bardet-Biedl syndrome 6
McKusick-Kaufman syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA408233679

rs_1334961999

4 SubmittersRCV001247809 RCV003469478 RCV005029840

NM_170784.3(MKKS):c.29C>A (p.Ser10Ter)

SNV
Germline

Chr20:10413486

Pathogenic/Likely pathogenic

McKusick-Kaufman syndrome
Bardet-Biedl syndrome
MKKS-related disorder
Bardet-Biedl syndrome 6
Bardet-Biedl syndrome 6
McKusick-Kaufman syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA9763758

rs_758356262

5 SubmittersRCV001245839 RCV004538518 RCV003473830 RCV005029834

NM_025114.4(CEP290):c.942+1G>C

SNV
Germline

Chr12:88128945

Likely pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385983525

rs_2039897317

2 SubmittersRCV001230885 RCV003469412

NM_031885.5(BBS2):c.941-1G>C

SNV
Germline

Chr16:56502457

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA395980933

rs_777234811

1 SubmittersRCV001231013

NM_015910.7(WDPCP):c.633+2T>C

SNV
Germline

Chr2:63437419

Likely pathogenic

Bardet-Biedl syndrome
Heart defect - tongue hamartoma - polysyndactyly syndrome
Bardet-Biedl syndrome 15

Criteria Provided
Multiple Submitters
No Conflicts

CA1682402

rs_765356177

3 SubmittersRCV001244664 RCV003985840 RCV004699231

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_033028.5(BBS4):c.333-1G>C

SNV
Germline

Chr15:72716777

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA393076934

rs_2065474809

1 SubmittersRCV001240918

NM_017777.4(MKS1):c.959-2A>G

SNV
Germline

Chr17:58210726

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Bardet-Biedl syndrome 13
Meckel syndrome, type 1
Joubert syndrome 28

Criteria Provided
Multiple Submitters
No Conflicts

CA400326088

rs_1273591389

2 SubmittersRCV001239076 RCV005014292

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_015910.7(WDPCP):c.253+2T>C

SNV
Germline

Chr2:63486540

Likely pathogenic

Bardet-Biedl syndrome 15

Criteria Provided
Single Submitter

CA347066062

rs_1700584499

1 SubmittersRCV001251165

NM_015662.3(IFT172):c.1445T>G (p.Val482Gly)

SNV
Germline

Chr2:27472329

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
IFT172-related disorder
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71

Criteria Provided
Conflicting Classifications

CA1580642

rs_61740250

4 SubmittersRCV001251461 RCV001314402 RCV004548104 RCV005014307

NM_025114.4(CEP290):c.5329C>T (p.Gln1777Ter)

SNV
Germline

Chr12:88079127

Pathogenic

Polycystic kidney disease
Severe hydrocephalus
Encephalocele
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Senior-Loken syndrome 6

Criteria Provided
Multiple Submitters
No Conflicts

CA6711738

rs_774410421

4 SubmittersRCV001257363 RCV001382992 RCV004570649 RCV005012700

NM_025114.4(CEP290):c.6271-1G>A

SNV
Germline

Chr12:88062779

Likely pathogenic

Joubert syndrome 5
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6

Criteria Provided
Single Submitter

rs_2034579709

1 SubmittersRCV005012702

NM_025114.4(CEP290):c.3847C>T (p.Gln1283Ter)

SNV
Germline

Chr12:88089214

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
CEP290-related disorder
Bardet-Biedl syndrome 14
Joubert syndrome 5
Joubert syndrome 5
Leber congenital amaurosis 10
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Senior-Loken syndrome 6
Meckel syndrome, type 3

Criteria Provided
Multiple Submitters
No Conflicts

CA386000583

rs_2036824785

6 SubmittersRCV001390760 RCV003120515 RCV003469489 RCV004796396 RCV005005128 RCV006454722

NM_176824.3(BBS7):c.497C>T (p.Ala166Val)

SNV
Germline

Chr4:121859023

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 7
Bardet-Biedl syndrome
See cases

Criteria Provided
Conflicting Classifications

CA358042830

rs_1341540567

3 SubmittersRCV001262591 RCV001880045 RCV002252349

NM_198428.3(BBS9):c.190C>T (p.Gln64Ter)

SNV
Germline

Chr7:33152778

Pathogenic

Bardet-Biedl syndrome 9
Bardet-Biedl syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA4213893

rs_769256027

5 SubmittersRCV001262946 RCV001880048 RCV004546626

NM_198428.3(BBS9):c.1138G>T (p.Glu380Ter)

SNV
Germline

Chr7:33336562

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 9

Criteria Provided
Multiple Submitters
No Conflicts

CA4214197

rs_370729939

2 SubmittersRCV001262960

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_031885.5(BBS2):c.1778T>A (p.Leu593Ter)

SNV
Unknown

Chr16:56497762

Likely pathogenic

Bardet-Biedl syndrome 2

Criteria Provided
Single Submitter

CA395975812

rs_1964154734

1 SubmittersRCV001264006

NM_031885.5(BBS2):c.1402C>T (p.Gln468Ter)

SNV
Unknown

Chr16:56499903

Likely pathogenic

Bardet-Biedl syndrome 2

Criteria Provided
Single Submitter

CA395978196

rs_1791390525

1 SubmittersRCV001264007

NM_031885.5(BBS2):c.1066G>T (p.Glu356Ter)

SNV
Unknown

Chr16:56502331

Likely pathogenic

Bardet-Biedl syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA395980413

rs_1192804794

2 SubmittersRCV001264008

NM_031885.5(BBS2):c.721A>T (p.Lys241Ter)

SNV
Unknown

Chr16:56506033

Likely pathogenic

Bardet-Biedl syndrome 2

Criteria Provided
Single Submitter

CA395982853

rs_1964413369

1 SubmittersRCV001264009

NM_031885.5(BBS2):c.583G>T (p.Glu195Ter)

SNV
Unknown

Chr16:56509986

Likely pathogenic

Bardet-Biedl syndrome 2

Criteria Provided
Single Submitter

CA395984022

rs_1964531867

1 SubmittersRCV001264334

NM_031885.5(BBS2):c.497T>A (p.Leu166Ter)

SNV
Germline

Chr16:56510896

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395984228

rs_1964558577

3 SubmittersRCV001264335 RCV002541615

NM_031885.5(BBS2):c.343G>T (p.Glu115Ter)

SNV
Unknown

Chr16:56514455

Likely pathogenic

Bardet-Biedl syndrome 2

Criteria Provided
Single Submitter

CA395985290

rs_1964674209

1 SubmittersRCV001264336

NM_031885.5(BBS2):c.302T>A (p.Leu101Ter)

SNV
Unknown

Chr16:56514496

Likely pathogenic

Bardet-Biedl syndrome 2

Criteria Provided
Single Submitter

CA395985543

rs_1964676419

1 SubmittersRCV001264337

NM_031885.5(BBS2):c.289C>T (p.Gln97Ter)

SNV
Unknown

Chr16:56514509

Likely pathogenic

Bardet-Biedl syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA395985601

rs_1964676925

2 SubmittersRCV001264338

NM_031885.5(BBS2):c.217C>T (p.Gln73Ter)

SNV
Germline

Chr16:56514581

Likely pathogenic

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74

Criteria Provided
Multiple Submitters
No Conflicts

CA395985928

rs_199940492

2 SubmittersRCV001264339 RCV005014316

NM_176824.3(BBS7):c.1015C>T (p.Gln339Ter)

SNV
Germline

Chr4:121847426

Pathogenic

Inborn genetic diseases
Bardet-Biedl syndrome 7

Criteria Provided
Multiple Submitters
No Conflicts

CA358063060

rs_1726067442

2 SubmittersRCV001266034 RCV003462843

NM_170784.3(MKKS):c.415C>T (p.Arg139Ter)

SNV
Germline

Chr20:10413100

Pathogenic

Inborn genetic diseases
Bardet-Biedl syndrome 6
McKusick-Kaufman syndrome
MKKS-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA9763691

rs_142394051

3 SubmittersRCV001265764 RCV002486011 RCV004545160

NM_176824.3(BBS7):c.878A>C (p.Gln293Pro)

SNV
Germline

Chr4:121848900

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 7

Criteria Provided
Multiple Submitters
No Conflicts

CA104764385

rs_889417696

4 SubmittersRCV001328270 RCV003462850

NM_176824.3(BBS7):c.187G>A (p.Gly63Arg)

SNV
Germline

Chr4:121861658

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 7
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA3064561

rs_754579374

5 SubmittersRCV001292625 RCV001328271

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_025114.4(CEP290):c.1747A>G (p.Ile583Val)

SNV
Germline

Chr12:88117110

Conflicting classifications of pathogenicity

Leber congenital amaurosis
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA385978293

rs_1459958084

3 SubmittersRCV001279555 RCV002493497 RCV005318701

NM_001278293.3(ARL6):c.29T>A (p.Leu10Ter)

SNV
Germline

Chr3:97768136

Likely pathogenic

Retinitis pigmentosa 55
Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 1

Criteria Provided
Single Submitter

rs_2036471593

1 SubmittersRCV005037251

NM_144596.4(TTC8):c.559C>T (p.Gln187Ter)

SNV
Germline

Chr14:88841494

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 8
Retinitis pigmentosa 51

Criteria Provided
Multiple Submitters
No Conflicts

CA264584207

rs_376035653

4 SubmittersRCV001293547 RCV004004950 RCV003462854

NM_006642.5(SDCCAG8):c.397G>T (p.Glu133Ter)

SNV
Germline

Chr1:243274633

Pathogenic

Inborn genetic diseases
Senior-Loken syndrome 7
Bardet-Biedl syndrome 16
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA1483292

rs_768207230

3 SubmittersRCV002932082 RCV002932081 RCV006698476

NM_152384.3(BBS5):c.110T>C (p.Ile37Thr)

SNV
Germline

Chr2:169482301

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 5
BBS5-related disorder

Criteria Provided
Conflicting Classifications

CA1956106

rs_370849006

3 SubmittersRCV001304009 RCV002486176 RCV003938610

NM_015662.3(IFT172):c.4908T>G (p.His1636Gln)

SNV
Germline

Chr2:27445751

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Condition: not provided
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71
IFT172-related disorder

Criteria Provided
Conflicting Classifications

CA1579433

rs_201840472

7 SubmittersRCV001296225 RCV001699778 RCV002504433 RCV004727091

NM_015662.3(IFT172):c.3824G>T (p.Gly1275Val)

SNV
Germline

Chr2:27453511

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Inborn genetic diseases
Bardet-Biedl syndrome 20
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome
IFT172-related disorder

Criteria Provided
Conflicting Classifications

CA1579843

rs_543062539

5 SubmittersRCV001298479 RCV002541865 RCV002486144 RCV003224553 RCV004548136

NM_015662.3(IFT172):c.3178G>A (p.Ala1060Thr)

SNV
Germline

Chr2:27457689

Conflicting classifications of pathogenicity

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
Short-rib thoracic dysplasia 10 with or without polydactyly
Inborn genetic diseases
IFT172-related disorder

Criteria Provided
Conflicting Classifications

CA1580063

rs_560379580

4 SubmittersRCV001308721 RCV002493618 RCV002543247 RCV004548151

NM_015662.3(IFT172):c.721C>T (p.Arg241Trp)

SNV
Germline

Chr2:27481110

Conflicting classifications of pathogenicity

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
Short-rib thoracic dysplasia 10 with or without polydactyly
IFT172-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1580889

rs_772012378

4 SubmittersRCV001298477 RCV002499548 RCV004548135 RCV004719128

NM_015910.7(WDPCP):c.1982C>T (p.Pro661Leu)

SNV
Germline

Chr2:63174766

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1682035

rs_572858289

2 SubmittersRCV001301459 RCV003294223

NM_015910.7(WDPCP):c.691A>G (p.Ile231Val)

SNV
Germline

Chr2:63433879

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Heart defect - tongue hamartoma - polysyndactyly syndrome
Bardet-Biedl syndrome 15
Inborn genetic diseases
WDPCP-related disorder

Criteria Provided
Conflicting Classifications

CA1682371

rs_769180655

4 SubmittersRCV001302578 RCV002493593 RCV002544630 RCV003416173

NM_024685.4(BBS10):c.686C>T (p.Pro229Leu)

SNV
Germline

Chr12:76347299

Likely pathogenic

Condition: not provided
Retinal dystrophy
Bardet-Biedl syndrome 10

Criteria Provided
Multiple Submitters
No Conflicts

CA385814632

rs_1230692815

3 SubmittersRCV001311000 RCV004815330 RCV005002003

NM_015662.3(IFT172):c.3851G>A (p.Arg1284Gln)

SNV
Germline

Chr2:27453484

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Inborn genetic diseases
IFT172-related disorder
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20

Criteria Provided
Conflicting Classifications

CA1579840

rs_147394910

4 SubmittersRCV001319841 RCV002543786 RCV004548161 RCV005023034

NM_015662.3(IFT172):c.184-6T>A

SNV
Germline

Chr2:27485136

Conflicting classifications of pathogenicity

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
IFT172-related disorder

Criteria Provided
Conflicting Classifications

CA1581081

rs_371658303

3 SubmittersRCV001313779 RCV002476448 RCV004738243

NM_024685.4(BBS10):c.932C>T (p.Ser311Phe)

SNV
Germline

Chr12:76347053

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA385813560

rs_1951764875

1 SubmittersRCV001319159

NM_031885.5(BBS2):c.1238G>A (p.Arg413Gln)

SNV
Germline

Chr16:56501013

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
BBS2-related disorder
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8065779

rs_141683908

4 SubmittersRCV001313039 RCV004531102 RCV004968012 RCV005367827

NM_031885.5(BBS2):c.117G>A (p.Lys39=)

SNV
Germline

Chr16:56519746

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Retinitis pigmentosa 74
Bardet-Biedl syndrome 2

Criteria Provided
Conflicting Classifications

CA8066136

rs_755877218

2 SubmittersRCV001321058 RCV005014410

NM_001278293.3(ARL6):c.228C>G (p.Tyr76Ter)

SNV
Germline

Chr3:97780657

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 3
Retinitis pigmentosa 55
Bardet-Biedl syndrome 3
ARL6-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA353586185

rs_2037147164

3 SubmittersRCV001330111 RCV001859272 RCV003416217

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_012210.4(TRIM32):c.1837C>T (p.Arg613Ter)

SNV
Germline

Chr9:116699579

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Sarcotubular myopathy
TRIM32-related disorder
Condition: not provided
Bardet-Biedl syndrome 11
Sarcotubular myopathy

Criteria Provided
Conflicting Classifications

CA5211215

rs_199664043

7 SubmittersRCV001350863 RCV002221274 RCV003405557 RCV003135986 RCV006709414

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_024685.4(BBS10):c.1365T>G (p.Tyr455Ter)

SNV
Germline

Chr12:76346620

Pathogenic

Bardet-Biedl syndrome 10
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA385811330

rs_778731343

2 SubmittersRCV001331336 RCV002546463

NM_025114.4(CEP290):c.2217+2T>C

SNV
Germline

Chr12:88111692

Likely pathogenic

Bardet-Biedl syndrome 14
Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis

Criteria Provided
Multiple Submitters
No Conflicts

CA385974764

rs_2038702746

2 SubmittersRCV001330036 RCV001863212

NM_006642.5(SDCCAG8):c.1985+1G>T

SNV
Germline

Chr1:243426559

Likely pathogenic

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16
SDCCAG8-related disorder

Criteria Provided
Single Submitter

CA1483790

rs_752046196

2 SubmittersRCV001998335 RCV004529074

NM_152384.3(BBS5):c.211G>A (p.Val71Ile)

SNV
Germline

Chr2:169487808

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 5
Inborn genetic diseases
BBS5-related disorder

Criteria Provided
Conflicting Classifications

CA349161322

rs_1397496181

4 SubmittersRCV001346252 RCV002499694 RCV003169683 RCV004753292

NM_015662.3(IFT172):c.4673C>T (p.Ala1558Val)

SNV
Germline

Chr2:27446342

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71
IFT172-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1579518

rs_757464563

4 SubmittersRCV001352172 RCV002476619 RCV004738264 RCV005253812

NM_015662.3(IFT172):c.3772G>A (p.Glu1258Lys)

SNV
Germline

Chr2:27453679

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
IFT172-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1579865

rs_529914770

4 SubmittersRCV001342893 RCV002486391 RCV004548186 RCV004815408

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_177965.4(CFAP418):c.155+12G>A

SNV
Germline

Chr8:95269023

Conflicting classifications of pathogenicity

Condition: not provided
Cone-rod dystrophy 16
Retinitis pigmentosa
Bardet-biedl syndrome 21

Criteria Provided
Conflicting Classifications

CA4815249

rs_371521751

2 SubmittersRCV001349718 RCV002476610

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_031885.5(BBS2):c.1673C>T (p.Thr558Ile)

SNV
Germline

Chr16:56497867

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 2
Retinal dystrophy
BBS2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA8065643

rs_370581600

5 SubmittersRCV001348771 RCV001831145 RCV003888053 RCV004733265 RCV006269390

NM_152384.3(BBS5):c.259-3C>G

SNV
Germline

Chr2:169487984

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 5

Criteria Provided
Conflicting Classifications

CA537972171

rs_564412855

3 SubmittersRCV001364897 RCV002476663

NM_015662.3(IFT172):c.3368A>G (p.Asn1123Ser)

SNV
Germline

Chr2:27456514

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
Inborn genetic diseases
Condition: not provided
IFT172-related disorder

Criteria Provided
Conflicting Classifications

CA1580022

rs_146615936

6 SubmittersRCV001362818 RCV002504594 RCV003169814 RCV003132469 RCV004738267

NM_015662.3(IFT172):c.2351G>A (p.Arg784Gln)

SNV
Germline

Chr2:27461360

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
Inborn genetic diseases
IFT172-related disorder

Criteria Provided
Conflicting Classifications

CA1580332

rs_370097039

4 SubmittersRCV001366629 RCV002488134 RCV003169857 RCV004550090

NM_015662.3(IFT172):c.529G>A (p.Val177Ile)

SNV
Germline

Chr2:27483330

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Condition: not provided
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
IFT172-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1580944

rs_754880269

5 SubmittersRCV001359836 RCV003235561 RCV002504589 RCV004550082 RCV005851860

NM_015662.3(IFT172):c.357A>G (p.Gln119=)

SNV
Germline

Chr2:27483917

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
Retinal dystrophy
IFT172-related disorder

Criteria Provided
Conflicting Classifications

CA1581007

rs_749934202

4 SubmittersRCV001361414 RCV002499730 RCV003888061 RCV004738266

NM_015662.3(IFT172):c.291A>C (p.Glu97Asp)

SNV
Germline

Chr2:27485023

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Condition: not provided
IFT172-related disorder
Inborn genetic diseases
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20

Criteria Provided
Conflicting Classifications

CA1581059

rs_189236939

5 SubmittersRCV001374350 RCV002254962 RCV004550094 RCV005582749 RCV005023116

NM_015910.7(WDPCP):c.771T>A (p.Ser257=)

SNV
Germline

Chr2:63433799

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Heart defect - tongue hamartoma - polysyndactyly syndrome
Bardet-Biedl syndrome 15
WDPCP-related disorder

Criteria Provided
Conflicting Classifications

CA1682354

rs_764847886

3 SubmittersRCV001367290 RCV002488137 RCV004746351

NM_015910.7(WDPCP):c.304G>C (p.Asp102His)

SNV
Germline

Chr2:63484937

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1682528

rs_757449444

2 SubmittersRCV001370020 RCV002550095

NM_176824.3(BBS7):c.198T>G (p.Ile66Met)

SNV
Germline

Chr4:121861647

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3064557

rs_367765050

4 SubmittersRCV001373159 RCV003462939 RCV003883620

NM_033028.5(BBS4):c.1158C>T (p.Gly386=)

SNV
Germline

Chr15:72735876

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
BBS4-related disorder

Criteria Provided
Conflicting Classifications

CA7646928

rs_1057402744

2 SubmittersRCV001370868 RCV003405616

NM_031885.5(BBS2):c.116A>G (p.Lys39Arg)

SNV
Germline

Chr16:56519747

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Retinitis pigmentosa 74
Bardet-Biedl syndrome 2
Bardet-Biedl syndrome 2

Criteria Provided
Conflicting Classifications

CA8066137

rs_779677560

3 SubmittersRCV001374287 RCV002488187 RCV006249748

NM_006642.5(SDCCAG8):c.547-1G>A

SNV
Germline

Chr1:243293090

Likely pathogenic

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Single Submitter

CA345478019

rs_2070433656

1 SubmittersRCV001377051

NM_152384.3(BBS5):c.142+1G>T

SNV
Germline

Chr2:169482334

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA349160106

rs_2105291750

1 SubmittersRCV001378765

NM_015910.7(WDPCP):c.75+1G>T

SNV
Germline

Chr2:63588196

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA347066512

rs_1486299333

1 SubmittersRCV001378083

NM_176824.3(BBS7):c.1512-1G>A

SNV
Germline

Chr4:121833396

Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 7

Criteria Provided
Multiple Submitters
No Conflicts

CA358058191

rs_2149054421

2 SubmittersRCV001378177 RCV003462955

NM_025114.4(CEP290):c.6357+1G>A

SNV
Germline

Chr12:88062691

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6

Criteria Provided
Multiple Submitters
No Conflicts

CA385979054

rs_1196938557

2 SubmittersRCV001378757 RCV005005228

NM_025114.4(CEP290):c.5586+1G>T

SNV
Germline

Chr12:88077696

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6

Criteria Provided
Multiple Submitters
No Conflicts

CA385987996

rs_2035880971

2 SubmittersRCV001377792 RCV005005225

NM_025114.4(CEP290):c.3309+2T>C

SNV
Germline

Chr12:88093768

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA241168580

rs_1007902545

3 SubmittersRCV001379336 RCV003469638 RCV006636861

NM_144596.4(TTC8):c.579+5G>A

SNV
Germline

Chr14:88841519

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA2499222778

rs_2140977987

1 SubmittersRCV001377063

NM_144596.4(TTC8):c.710+1G>A

SNV
Germline

Chr14:88853057

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA390545060

rs_2140999630

1 SubmittersRCV001377429

NM_144596.4(TTC8):c.799-2A>G

SNV
Germline

Chr14:88861220

Likely pathogenic

Bardet-Biedl syndrome
Retinitis pigmentosa 51

Criteria Provided
Multiple Submitters
No Conflicts

CA7302602

rs_771218088

2 SubmittersRCV001378356 RCV004570928

NM_144596.4(TTC8):c.910-1G>A

SNV
Germline

Chr14:88870058

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA390549135

rs_2141033061

1 SubmittersRCV001377275

NM_033028.5(BBS4):c.24+1G>T

SNV
Germline

Chr15:72686252

Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 4
Thyroid cancer, nonmedullary, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA393075081

rs_759520211

3 SubmittersRCV001378853 RCV002504633 RCV005912609

NM_033028.5(BBS4):c.1036+1G>A

SNV
Germline

Chr15:72731727

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA393079129

rs_2151048301

1 SubmittersRCV001379459

NM_031885.5(BBS2):c.1397+1G>A

SNV
Germline

Chr16:56500853

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Retinitis pigmentosa 74
Bardet-Biedl syndrome 2
BBS2-related ciliopathy
Bardet-Biedl syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA395979266

rs_1225299095

4 SubmittersRCV001378131 RCV005014514 RCV005634125 RCV006636849

NM_031885.5(BBS2):c.1080+2T>C

SNV
Germline

Chr16:56502315

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA8065842

rs_771554923

1 SubmittersRCV001377136

NM_031885.5(BBS2):c.612+1G>T

SNV
Germline

Chr16:56509956

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA395983949

rs_1964531402

1 SubmittersRCV001377369

NM_017777.4(MKS1):c.1273+1G>C

SNV
Germline

Chr17:58207893

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 28
Meckel syndrome, type 1
Bardet-Biedl syndrome 13
Joubert syndrome 28
Meckel syndrome, type 1
Bardet-Biedl syndrome 13

Criteria Provided
Multiple Submitters
No Conflicts

CA292008596

rs_933577333

5 SubmittersRCV001377156 RCV001548771 RCV002504627 RCV003225970 RCV004570921

NM_017777.4(MKS1):c.1095+1G>A

SNV
Germline

Chr17:58208512

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Bardet-Biedl syndrome 13

Criteria Provided
Multiple Submitters
No Conflicts

CA8669289

rs_747740477

2 SubmittersRCV001377617 RCV003473903

NM_170784.3(MKKS):c.1034G>A (p.Gly345Glu)

SNV
Germline

Chr20:10408755

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
McKusick-Kaufman syndrome
Condition: not provided
Bardet-Biedl syndrome
Bardet-Biedl syndrome 6

Criteria Provided
Multiple Submitters
No Conflicts

CA9763569

rs_779116830

5 SubmittersRCV001376919 RCV001579882 RCV003222313 RCV003473898

NM_006642.5(SDCCAG8):c.784G>T (p.Glu262Ter)

SNV
Germline

Chr1:243308032

Pathogenic

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA1483447

rs_149038104

3 SubmittersRCV001382396 RCV005361591

NM_006642.5(SDCCAG8):c.1147C>T (p.Gln383Ter)

SNV
Germline

Chr1:243330618

Pathogenic/Likely pathogenic

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16
SDCCAG8-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA40445209

rs_964673995

3 SubmittersRCV001384058 RCV004734163

NM_152384.3(BBS5):c.24G>A (p.Trp8Ter)

SNV
Germline

Chr2:169479577

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA1956073

rs_373396081

2 SubmittersRCV001383653 RCV005023140

NM_015662.3(IFT172):c.3793G>T (p.Glu1265Ter)

SNV
Germline

Chr2:27453658

Pathogenic/Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71

Criteria Provided
Multiple Submitters
No Conflicts

CA44489951

rs_999731005

2 SubmittersRCV001380017 RCV002476718

NM_015662.3(IFT172):c.2646C>A (p.Cys882Ter)

SNV
Germline

Chr2:27459519

Pathogenic/Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71

Criteria Provided
Multiple Submitters
No Conflicts

CA346382439

rs_1309394469

2 SubmittersRCV001389719 RCV005014547

NM_015910.7(WDPCP):c.979C>T (p.Gln327Ter)

SNV
Germline

Chr2:63404504

Pathogenic

Bardet-Biedl syndrome
Inborn genetic diseases
WDPCP-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA49233684

rs_182144885

3 SubmittersRCV001382644 RCV002551532 RCV003416303

NM_015910.7(WDPCP):c.547A>T (p.Lys183Ter)

SNV
Germline

Chr2:63437507

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 15
Heart defect - tongue hamartoma - polysyndactyly syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA347063734

rs_2105500878

2 SubmittersRCV001389894 RCV002504653

NM_001278293.3(ARL6):c.4G>T (p.Gly2Ter)

SNV
Germline

Chr3:97768111

Pathogenic

Retinitis pigmentosa 55
Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 1
ARL6-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA2505833

rs_771628868

3 SubmittersRCV001389155 RCV002246376 RCV004746364

NM_176824.3(BBS7):c.1663G>T (p.Glu555Ter)

SNV
Germline

Chr4:121833244

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA358057075

rs_2149054103

1 SubmittersRCV001387256

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_198428.3(BBS9):c.1474A>T (p.Lys492Ter)

SNV
Germline

Chr7:33351260

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 9

Criteria Provided
Multiple Submitters
No Conflicts

CA367256017

rs_2128667543

2 SubmittersRCV001386353 RCV002499805

NM_198428.3(BBS9):c.1789C>T (p.Gln597Ter)

SNV
Germline

Chr7:33367862

Pathogenic

Bardet-Biedl syndrome
Abnormality of the eye
Bardet-Biedl syndrome 9

Criteria Provided
Multiple Submitters
No Conflicts

CA156729975

rs_948418225

4 SubmittersRCV001388265 RCV001814316 RCV002488210

NM_012210.4(TRIM32):c.1771G>A (p.Val591Met)

SNV
Germline

Chr9:116699513

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Condition: not provided
Bardet-Biedl syndrome 11
Sarcotubular myopathy

Criteria Provided
Conflicting Classifications

CA5211209

rs_753866301

3 SubmittersRCV001381532 RCV003136055 RCV006709544

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
Bardet-Biedl syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381459651

rs_1856209517

3 SubmittersRCV001388588 RCV006636996

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

3 SubmittersRCV001388071 RCV005050371

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

SNV
Germline

Chr11:66531704

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381426103

rs_1856788934

2 SubmittersRCV001390868 RCV006637022

NM_024685.4(BBS10):c.1654G>T (p.Gly552Ter)

SNV
Germline

Chr12:76346331

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 10

Criteria Provided
Multiple Submitters
No Conflicts

CA385810651

rs_2136090024

3 SubmittersRCV001386811 RCV005005237

NM_024685.4(BBS10):c.439C>T (p.Gln147Ter)

SNV
Germline

Chr12:76347546

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA239332430

rs_199998327

1 SubmittersRCV001381069

NM_025114.4(CEP290):c.7324G>T (p.Glu2442Ter)

SNV
Germline

Chr12:88049300

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA385972484

rs_1374014119

3 SubmittersRCV001384498 RCV002493927 RCV005614538

NM_025114.4(CEP290):c.7287T>A (p.Tyr2429Ter)

SNV
Germline

Chr12:88049337

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA6711302

rs_775189201

3 SubmittersRCV001383766 RCV003469701 RCV006636926

NM_025114.4(CEP290):c.5941G>T (p.Glu1981Ter)

SNV
Germline

Chr12:88071364

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA6711612

rs_767426153

4 SubmittersRCV001388961 RCV003469749 RCV005005926 RCV006637001

NM_025114.4(CEP290):c.4090G>T (p.Glu1364Ter)

SNV
Germline

Chr12:88087884

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Leber congenital amaurosis
Condition: not provided
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
CEP290-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA385999234

rs_779645669

5 SubmittersRCV001381486 RCV001836389 RCV003156344 RCV002476720 RCV004733280

NM_025114.4(CEP290):c.3925C>T (p.Gln1309Ter)

SNV
Germline

Chr12:88089136

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA386000397

rs_2036816455

3 SubmittersRCV001382323 RCV003469675 RCV006636902

NM_025114.4(CEP290):c.1987A>T (p.Lys663Ter)

SNV
Germline

Chr12:88114485

Pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
Meckel syndrome, type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA385976857

rs_2038919221

3 SubmittersRCV001383423 RCV003469695 RCV005057356

NM_025114.4(CEP290):c.1060C>T (p.Gln354Ter)

SNV
Germline

Chr12:88126321

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel syndrome, type 4
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel syndrome, type 4
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385982588

rs_2138021345

5 SubmittersRCV001386120 RCV003469719 RCV005409820 RCV005005236

NM_025114.4(CEP290):c.532C>T (p.Gln178Ter)

SNV
Germline

Chr12:88130405

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385986468

rs_2039993548

2 SubmittersRCV001387371 RCV003469732

NM_025114.4(CEP290):c.307C>T (p.Gln103Ter)

SNV
Germline

Chr12:88136777

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA6712832

rs_752144368

3 SubmittersRCV001386072 RCV003469718 RCV006636965

NM_144596.4(TTC8):c.674G>A (p.Trp225Ter)

SNV
Germline

Chr14:88853020

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA390544679

rs_2140999501

1 SubmittersRCV001390662

NM_144596.4(TTC8):c.1021C>T (p.Gln341Ter)

SNV
Germline

Chr14:88870170

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA390550009

rs_2141033426

1 SubmittersRCV001388960

NM_033028.5(BBS4):c.952C>T (p.Gln318Ter)

SNV
Germline

Chr15:72731642

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA393078913

rs_1567430070

1 SubmittersRCV001380673

NM_033028.5(BBS4):c.1248+2T>C

SNV
Germline

Chr15:72735968

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 4
BBS4-related disorder
Colon adenocarcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA393080263

rs_2151055229

5 SubmittersRCV001380348 RCV003462965 RCV004749673 RCV005912627

NM_031885.5(BBS2):c.2059+1G>T

SNV
Germline

Chr16:56485589

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA395972815

rs_2144095211

1 SubmittersRCV001386722

NM_031885.5(BBS2):c.613-1G>C

SNV
Germline

Chr16:56506225

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA395983384

rs_2144163316

2 SubmittersRCV001382032 RCV001831382

NM_031885.5(BBS2):c.326C>A (p.Ser109Ter)

SNV
Germline

Chr16:56514472

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA395985406

rs_181736797

3 SubmittersRCV001381029 RCV003462971

NM_017777.4(MKS1):c.1031C>G (p.Ser344Ter)

SNV
Germline

Chr17:58208577

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Bardet-Biedl syndrome 13
Condition: not provided
Meckel syndrome, type 1
Bardet-Biedl syndrome 13
Joubert syndrome 28

Criteria Provided
Multiple Submitters
No Conflicts

CA8669299

rs_760971749

4 SubmittersRCV001387056 RCV003473975 RCV003145652 RCV005014537

NM_015662.3(IFT172):c.318C>T (p.Cys106=)

SNV
Germline

Chr2:27484245

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
IFT172-related disorder
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20

Criteria Provided
Conflicting Classifications

CA1581042

rs_772983278

3 SubmittersRCV001407331 RCV004738287 RCV005014554

NM_025114.4(CEP290):c.3429G>A (p.Lys1143=)

SNV
Germline

Chr12:88092713

Conflicting classifications of pathogenicity

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome 5
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Meckel syndrome, type 4

Criteria Provided
Conflicting Classifications

CA6712143

rs_769362204

2 SubmittersRCV001418489 RCV005419123

NM_006642.5(SDCCAG8):c.954A>C (p.Ala318=)

SNV
Germline

Chr1:243316779

Conflicting classifications of pathogenicity

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Conflicting Classifications

CA424105426

rs_750272621

2 SubmittersRCV001434499

NM_015662.3(IFT172):c.4593C>G (p.Phe1531Leu)

SNV
Germline

Chr2:27447581

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
IFT172-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1579548

rs_540171862

4 SubmittersRCV001433172 RCV002495599 RCV004550157 RCV004774446

NM_176824.3(BBS7):c.876C>A (p.Ile292=)

SNV
Germline

Chr4:121848902

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
BBS7-related disorder
Bardet-Biedl syndrome 7

Criteria Provided
Conflicting Classifications

CA104764389

rs_369319119

3 SubmittersRCV001441628 RCV003965856 RCV005038224

NM_025114.4(CEP290):c.6067A>C (p.Arg2023=)

SNV
Germline

Chr12:88068590

Conflicting classifications of pathogenicity

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome 5
Bardet-Biedl syndrome 14

Criteria Provided
Conflicting Classifications

CA481071572

rs_764861728

2 SubmittersRCV001429116 RCV001839044

NM_015662.3(IFT172):c.2103C>A (p.Ile701=)

SNV
Germline

Chr2:27462713

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
IFT172-related disorder
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71

Criteria Provided
Conflicting Classifications

CA1580415

rs_138604630

3 SubmittersRCV001475483 RCV004550231 RCV005014573

NM_176824.3(BBS7):c.927A>C (p.Thr309=)

SNV
Germline

Chr4:121848851

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 7

Criteria Provided
Conflicting Classifications

CA3064366

rs_771825770

2 SubmittersRCV001475565 RCV005023170

NM_176824.3(BBS7):c.123T>C (p.Asp41=)

SNV
Germline

Chr4:121863259

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
BBS7-related disorder
Bardet-Biedl syndrome 7

Criteria Provided
Conflicting Classifications

CA3064594

rs_148011561

3 SubmittersRCV001475506 RCV003930983 RCV005038235

NM_012210.4(TRIM32):c.114C>T (p.His38=)

SNV
Germline

Chr9:116697856

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
TRIM32-related disorder
Bardet-Biedl syndrome 11
Sarcotubular myopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5210909

rs_761012752

4 SubmittersRCV001470641 RCV004749699 RCV006709650 RCV006443936

NM_025114.4(CEP290):c.5129C>T (p.Ala1710Val)

SNV
Germline

Chr12:88080279

Conflicting classifications of pathogenicity

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
CEP290-related disorder
Joubert syndrome 5
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Meckel syndrome, type 4

Criteria Provided
Conflicting Classifications

CA6711788

rs_754184488

3 SubmittersRCV001462219 RCV004528501 RCV005005248

NM_176824.3(BBS7):c.2046T>C (p.Phe682=)

SNV
Germline

Chr4:121825962

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
BBS7-related disorder
Bardet-Biedl syndrome 7

Criteria Provided
Conflicting Classifications

CA3064060

rs_753884144

3 SubmittersRCV001504161 RCV003983920 RCV005038241

NM_033028.5(BBS4):c.187C>T (p.Gln63Ter)

SNV
Germline

Chr15:72712274

Pathogenic

Bardet-Biedl syndrome 4
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA393076093

rs_1338469029

2 SubmittersRCV001526709 RCV002568131

NM_025114.4(CEP290):c.3085G>T (p.Glu1029Ter)

SNV
Unknown

Chr12:88096906

Likely pathogenic

Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Senior-Loken syndrome 6

Criteria Provided
Single Submitter

CA386006874

rs_2137423759

1 SubmittersRCV001535856

NM_033028.5(BBS4):c.1375C>T (p.Gln459Ter)

SNV
Germline

Chr15:72736888

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 4
Bardet-Biedl syndrome
BBS4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA272646567

rs_914062190

4 SubmittersRCV001535955 RCV003633591 RCV004749710

NM_170784.3(MKKS):c.986-1G>A

SNV
Germline

Chr20:10408804

Pathogenic

Bardet-Biedl syndrome 6
McKusick-Kaufman syndrome
Bardet-Biedl syndrome 6

Criteria Provided
Multiple Submitters
No Conflicts

CA9763580

rs_200633158

2 SubmittersRCV001535897 RCV005253858

NM_001278293.3(ARL6):c.349+1G>A

SNV
Germline

Chr3:97785050

Likely pathogenic

Abnormality of the eye
Retinitis pigmentosa 55
Bardet-Biedl syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA353587679

rs_2108053962

2 SubmittersRCV001814498 RCV006557518

NM_025114.4(CEP290):c.712G>T (p.Glu238Ter)

SNV
Germline

Chr12:88129834

Pathogenic

Condition: not provided
Joubert syndrome 5
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
CEP290-related disorder
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA385985714

rs_2138086844

6 SubmittersRCV001544696 RCV002495869 RCV003470860 RCV001882615 RCV004782757 RCV006637044

NM_015662.3(IFT172):c.4307A>C (p.Lys1436Thr)

SNV
Germline

Chr2:27449298

Conflicting classifications of pathogenicity

Condition: not provided
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71

Criteria Provided
Conflicting Classifications

CA1579659

rs_377646246

3 SubmittersRCV001549486 RCV001882625 RCV002495879

NM_015662.3(IFT172):c.4428+3A>G

SNV
Germline

Chr2:27448912

Pathogenic

Bardet-Biedl syndrome 20

No Assertion Criteria Provided

CA2499215848

rs_2148476381

1 SubmittersRCV002508154

NM_152384.3(BBS5):c.425T>G (p.Leu142Ter)

SNV
Germline

Chr2:169492912

Pathogenic

Condition: not provided
Bardet-Biedl syndrome 5
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA349164685

rs_1574339529

5 SubmittersRCV001580050 RCV001780411 RCV001866093

NM_015662.3(IFT172):c.986C>T (p.Thr329Met)

SNV
Germline

Chr2:27479528

Conflicting classifications of pathogenicity

Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome
IFT172-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1580809

rs_568736482

6 SubmittersRCV001591793 RCV002506690 RCV002571156 RCV003224574 RCV004551934 RCV004692703

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_033028.5(BBS4):c.864+1G>C

SNV
Germline

Chr15:72731458

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Bardet-Biedl syndrome 4

Criteria Provided
Conflicting Classifications

CA393078710

rs_2151047618

2 SubmittersRCV001724848 RCV002227533

NM_170784.3(MKKS):c.1436C>G (p.Ser479Ter)

SNV
Germline

Chr20:10405524

Pathogenic/Likely pathogenic

Condition: not provided
McKusick-Kaufman syndrome
Bardet-Biedl syndrome
Bardet-Biedl syndrome 6
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA9763476

rs_753180214

7 SubmittersRCV001723465 RCV002032678 RCV003474014 RCV004815602

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

5 SubmittersRCV001730053 RCV001882796 RCV004815608

NM_025103.4(IFT74):c.535C>G (p.Gln179Glu)

SNV
Germline

Chr9:26990143

Pathogenic/Likely pathogenic

Joubert syndrome 40
Condition: not provided
Inborn genetic diseases
IFT74-related disorder
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA5015009

rs_150219690

6 SubmittersRCV001731252 RCV002032710 RCV002538705 RCV004743566 RCV005361704

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_001278293.3(ARL6):c.186-11T>G

SNV
Germline

Chr3:97780604

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome 3
Retinitis pigmentosa 55
Bardet-Biedl syndrome 1
Bardet-Biedl syndrome 3
Retinitis pigmentosa 55

Criteria Provided
Conflicting Classifications

CA2505891

rs_370656150

3 SubmittersRCV001755610 RCV002074039 RCV005023250

NM_001177701.3(IFT27):c.197C>A (p.Ala66Asp)

SNV
Germline

Chr22:36766175

Likely pathogenic

Bardet-Biedl syndrome 19

No Assertion Criteria Provided

CA411384462

rs_765920708

1 SubmittersRCV001771815

NM_006642.5(SDCCAG8):c.1356+1G>C

SNV
Germline

Chr1:243341174

Likely pathogenic

Bardet-Biedl syndrome
Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Multiple Submitters
No Conflicts

CA345474949

rs_2147782314

2 SubmittersRCV001779472 RCV002541103

NM_015662.3(IFT172):c.3821+1G>A

SNV
Germline

Chr2:27453629

Pathogenic/Likely pathogenic

Condition: not provided
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20

Criteria Provided
Multiple Submitters
No Conflicts

CA346377865

rs_2148486874

2 SubmittersRCV001783469 RCV006695697

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_031885.5(BBS2):c.1429C>T (p.Gln477Ter)

SNV
Germline

Chr16:56499876

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

rs_2144139391

1 SubmittersRCV006570992

NM_025114.4(CEP290):c.3167C>A (p.Ser1056Ter)

SNV
Germline

Chr12:88093912

Pathogenic/Likely pathogenic

Condition: not provided
Bardet-Biedl syndrome 14
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA386006370

rs_1267970567

3 SubmittersRCV001780761 RCV003470909 RCV002544259

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_015910.7(WDPCP):c.541C>T (p.Gln181Ter)

SNV
Germline

Chr2:63437513

Likely pathogenic

Condition: not provided
Bardet-Biedl syndrome 15
Heart defect - tongue hamartoma - polysyndactyly syndrome

Criteria Provided
Single Submitter

CA1682411

rs_749286148

3 SubmittersRCV001794944 RCV005023258

NM_020347.4(LZTFL1):c.457-1G>T

SNV
Germline

Chr3:45831139

Likely pathogenic

Bardet-Biedl syndrome 17

Criteria Provided
Single Submitter

CA352450755

rs_2125680264

1 SubmittersRCV001807914

NM_024685.4(BBS10):c.1230T>G (p.His410Gln)

SNV
Germline

Chr12:76346755

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 10

Criteria Provided
Conflicting Classifications

CA385812132

rs_1447555059

2 SubmittersRCV001810536

NM_170784.3(MKKS):c.917A>G (p.Asn306Ser)

SNV
Germline

Chr20:10412598

Conflicting classifications of pathogenicity

not specified
MKKS-related disorder
Bardet-Biedl syndrome 6
McKusick-Kaufman syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA408232072

rs_1412422841

4 SubmittersRCV001817530 RCV004734281 RCV005038340 RCV005601801

NM_198428.3(BBS9):c.1065G>A (p.Gln355=)

SNV
Germline

Chr7:33336489

Conflicting classifications of pathogenicity

not specified
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA454452991

rs_756380526

2 SubmittersRCV001819347 RCV003633603

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_170784.3(MKKS):c.986-10T>G

SNV
Germline

Chr20:10408813

Conflicting classifications of pathogenicity

not specified
McKusick-Kaufman syndrome
Bardet-Biedl syndrome
MKKS-related disorder

Criteria Provided
Conflicting Classifications

CA9763581

rs_368654512

3 SubmittersRCV001822549 RCV003772330 RCV004734283

NM_031885.5(BBS2):c.1527+1G>A

SNV
Germline

Chr16:56499777

Likely pathogenic

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395977486

rs_2144138948

2 SubmittersRCV001823536 RCV003523114

NM_176824.3(BBS7):c.1337G>A (p.Arg446Gln)

SNV
Germline

Chr4:121839665

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 7
Bardet-Biedl syndrome
BBS7-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3064250

rs_372685495

4 SubmittersRCV001823853 RCV002074381 RCV003948756 RCV005868377

NM_015910.7(WDPCP):c.1492T>G (p.Cys498Gly)

SNV
Germline

Chr2:63382038

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 15
Bardet-Biedl syndrome 15
Heart defect - tongue hamartoma - polysyndactyly syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1682197

rs_758621800

3 SubmittersRCV001823856 RCV002482380 RCV006362567

NM_025114.4(CEP290):c.7198C>T (p.Gln2400Ter)

SNV
Germline

Chr12:88050365

Pathogenic/Likely pathogenic

CEP290-related disorder
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385973620

rs_1478582091

4 SubmittersRCV001825112 RCV002503334 RCV002545200 RCV003470936

NM_198428.3(BBS9):c.1540C>T (p.Arg514Ter)

SNV
Germline

Chr7:33352861

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 9
Bardet-Biedl syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA367256317

rs_1401715737

4 SubmittersRCV001839344 RCV003772362 RCV004546674

NM_198428.3(BBS9):c.542C>G (p.Pro181Arg)

SNV
Germline

Chr7:33257335

Pathogenic

Bardet-Biedl syndrome 9

No Assertion Criteria Provided

CA4214032

rs_779588488

1 SubmittersRCV001849654

NM_015662.3(IFT172):c.1414G>A (p.Asp472Asn)

SNV
Germline

Chr2:27472360

Conflicting classifications of pathogenicity

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
IFT172-related disorder

Criteria Provided
Conflicting Classifications

CA1580651

rs_747544155

3 SubmittersRCV001944909 RCV002482540 RCV004552066

NM_025114.4(CEP290):c.2483+1G>A

SNV
Germline

Chr12:88109065

Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 5
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Meckel syndrome, type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA385972465

rs_2137661795

2 SubmittersRCV002015044 RCV005002763

NM_031885.5(BBS2):c.804+1G>T

SNV
Germline

Chr16:56505949

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA395982540

rs_2144162056

1 SubmittersRCV002033989

NM_176824.3(BBS7):c.849+1G>C

SNV
Germline

Chr4:121852955

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 7

Criteria Provided
Multiple Submitters
No Conflicts

CA3064396

rs_763719688

4 SubmittersRCV002013650 RCV003337389

NM_176824.3(BBS7):c.1891-1G>A

SNV
Germline

Chr4:121828270

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA358054620

rs_2149048173

1 SubmittersRCV001924660

NM_001177701.3(IFT27):c.136G>T (p.Val46Leu)

SNV
Germline

Chr22:36767344

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome 19
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10212510

rs_376189927

3 SubmittersRCV001934223 RCV004728971 RCV006367781

NM_025114.4(CEP290):c.102+2T>G

SNV
Germline

Chr12:88141204

Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 5
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
CEP290-related disorder
Bardet-Biedl syndrome 14
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA6712915

rs_763226787

6 SubmittersRCV002027685 RCV002498073 RCV003226528 RCV003471280 RCV006640872

NM_015662.3(IFT172):c.4492G>A (p.Glu1498Lys)

SNV
Germline

Chr2:27447859

Conflicting classifications of pathogenicity

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
Short-rib thoracic dysplasia 10 with or without polydactyly
Inborn genetic diseases
IFT172-related disorder

Criteria Provided
Conflicting Classifications

CA1579592

rs_557292146

4 SubmittersRCV001864272 RCV002489986 RCV003289131 RCV004552060

NM_017777.4(MKS1):c.1156G>T (p.Glu386Ter)

SNV
Germline

Chr17:58208114

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Bardet-Biedl syndrome 13

Criteria Provided
Multiple Submitters
No Conflicts

CA400325630

rs_1968640181

2 SubmittersRCV001999780 RCV004571706

NM_025114.4(CEP290):c.6703G>T (p.Glu2235Ter)

SNV
Germline

Chr12:88058963

Pathogenic/Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Bardet-Biedl syndrome 14
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA385977637

rs_1375836634

3 SubmittersRCV001941643 RCV003471149 RCV006639222

NM_012210.4(TRIM32):c.868C>T (p.Gln290Ter)

SNV
Germline

Chr9:116698610

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA374650133

rs_1272966742

1 SubmittersRCV001941825

NM_031885.5(BBS2):c.1081-1G>A

SNV
Germline

Chr16:56501498

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA395980275

rs_1555522000

1 SubmittersRCV002024989

NM_031885.5(BBS2):c.718-2A>G

SNV
Germline

Chr16:56506038

Pathogenic

Bardet-Biedl syndrome
BBS2-related disorder
Sarcoma

Criteria Provided
Single Submitter

CA395982864

rs_1964413705

3 SubmittersRCV002036128 RCV004733457 RCV005925692

NM_015910.7(WDPCP):c.1055T>A (p.Leu352Gln)

SNV
Germline

Chr2:63404428

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1682294

rs_373387599

2 SubmittersRCV001987454 RCV002562858

NM_024685.4(BBS10):c.745C>T (p.Arg249Cys)

SNV
Germline

Chr12:76347240

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA385814468

rs_1242888821

2 SubmittersRCV001938566 RCV005520613

NM_017777.4(MKS1):c.516-2A>G

SNV
Germline

Chr17:58214389

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Bardet-Biedl syndrome 13

Criteria Provided
Multiple Submitters
No Conflicts

CA400327106

rs_2143805609

2 SubmittersRCV001964030 RCV003475263

NM_015662.3(IFT172):c.2014C>T (p.Arg672Trp)

SNV
Germline

Chr2:27463105

Conflicting classifications of pathogenicity

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Condition: not provided
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1580460

rs_201921339

4 SubmittersRCV001932014 RCV002463050 RCV002490004 RCV003888352

NM_176824.3(BBS7):c.1458C>G (p.Tyr486Ter)

SNV
Germline

Chr4:121835197

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 7
BBS7-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA358058626

rs_1470030897

3 SubmittersRCV001932136 RCV003464180 RCV004743607

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_001278293.3(ARL6):c.479+1G>A

SNV
Germline

Chr3:97788120

Likely pathogenic

Bardet-Biedl syndrome 3
Retinitis pigmentosa 55

Criteria Provided
Single Submitter

CA353588866

rs_1324418374

1 SubmittersRCV001998769

NM_015910.7(WDPCP):c.1436-1G>C

SNV
Germline

Chr2:63382095

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA347063727

rs_959923850

1 SubmittersRCV002028592

NM_024685.4(BBS10):c.1839T>A (p.Tyr613Ter)

SNV
Germline

Chr12:76346146

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA385809627

rs_1951755742

1 SubmittersRCV001992426

NM_015910.7(WDPCP):c.1435+18A>G

SNV
Germline

Chr2:63404030

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 15
Heart defect - tongue hamartoma - polysyndactyly syndrome

Criteria Provided
Conflicting Classifications

CA533658241

rs_777055382

2 SubmittersRCV001987742 RCV005025487

NM_001278293.3(ARL6):c.1A>G (p.Met1Val)

SNV
Germline

Chr3:97768108

Pathogenic

Bardet-Biedl syndrome 3
Retinitis pigmentosa 55

Criteria Provided
Single Submitter

CA353581718

rs_2107977736

1 SubmittersRCV001987743

NM_031885.5(BBS2):c.117+1G>A

SNV
Germline

Chr16:56519745

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA395987915

rs_1964866367

1 SubmittersRCV001970957

NM_024685.4(BBS10):c.963T>G (p.Tyr321Ter)

SNV
Germline

Chr12:76347022

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 10

Criteria Provided
Multiple Submitters
No Conflicts

CA385813396

rs_1555202662

2 SubmittersRCV001949264 RCV003464314

NM_006642.5(SDCCAG8):c.1745-2A>G

SNV
Germline

Chr1:243417966

Likely pathogenic

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Single Submitter

CA345667369

rs_1442457872

1 SubmittersRCV002047017

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_025114.4(CEP290):c.1359+1G>A

SNV
Germline

Chr12:88120996

Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 5
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA241152412

rs_935130451

4 SubmittersRCV002017506 RCV002507780 RCV003471253 RCV006639384

NM_015662.3(IFT172):c.4448G>A (p.Arg1483Lys)

SNV
Germline

Chr2:27447903

Conflicting classifications of pathogenicity

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
IFT172-related disorder
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1579602

rs_201356906

4 SubmittersRCV002002206 RCV004738468 RCV005025497 RCV005251306

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_170784.3(MKKS):c.1175C>T (p.Thr392Met)

SNV
Germline

Chr20:10407713

Likely pathogenic

Bardet-Biedl syndrome
McKusick-Kaufman syndrome

Criteria Provided
Single Submitter

CA9763534

rs_201183584

1 SubmittersRCV001976420

NM_144596.4(TTC8):c.1420A>G (p.Ile474Val)

SNV
Germline

Chr14:88875098

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 8
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA390554217

rs_1244721977

3 SubmittersRCV001947490 RCV003336454 RCV004040416

NM_031885.5(BBS2):c.1528-1G>C

SNV
Germline

Chr16:56498569

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA395977236

rs_2144135065

1 SubmittersRCV001973868

NM_025114.4(CEP290):c.1623+2C>A

SNV
Germline

Chr12:88118641

Conflicting classifications of pathogenicity

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
CEP290-related disorder
Meckel syndrome, type 4
Leber congenital amaurosis

Criteria Provided
Conflicting Classifications

CA385979091

rs_2039218006

5 SubmittersRCV001941065 RCV002484634 RCV004733422 RCV005406213 RCV006639131

NM_025114.4(CEP290):c.1247T>G (p.Leu416Ter)

SNV
Germline

Chr12:88121109

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Bardet-Biedl syndrome 14
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA385980733

rs_1269182131

3 SubmittersRCV001949664 RCV004571748 RCV006639297

NM_015662.3(IFT172):c.402+2T>G

SNV
Germline

Chr2:27483870

Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71
IFT172-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA1580998

rs_774548930

3 SubmittersRCV002006167 RCV002497968 RCV004738483

NM_015910.7(WDPCP):c.1813-2A>T

SNV
Germline

Chr2:63259411

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA347062587

rs_2104772718

1 SubmittersRCV002018722

NM_015662.3(IFT172):c.4519C>T (p.Arg1507Ter)

SNV
Germline

Chr2:27447832

Pathogenic/Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71
IFT172-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA1579588

rs_150246251

3 SubmittersRCV001900954 RCV002490161 RCV004738423

NM_033028.5(BBS4):c.24+1G>A

SNV
Germline

Chr15:72686252

Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA7646420

rs_759520211

2 SubmittersRCV002029022 RCV003464383

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

4 SubmittersRCV002029113 RCV003138033

NM_152384.3(BBS5):c.925C>T (p.Gln309Ter)

SNV
Germline

Chr2:169504481

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA349169956

rs_2105304338

1 SubmittersRCV002049554

NM_170784.3(MKKS):c.676C>T (p.Gln226Ter)

SNV
Germline

Chr20:10412839

Pathogenic

Bardet-Biedl syndrome
McKusick-Kaufman syndrome

Criteria Provided
Single Submitter

CA408232584

rs_2122234652

1 SubmittersRCV001909930

NM_025114.4(CEP290):c.3493C>T (p.Gln1165Ter)

SNV
Germline

Chr12:88090808

Pathogenic/Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA386002148

rs_2036977924

2 SubmittersRCV002035322 RCV003471118

NM_015910.7(WDPCP):c.755G>A (p.Trp252Ter)

SNV
Germline

Chr2:63433815

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 15
Heart defect - tongue hamartoma - polysyndactyly syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA347062470

rs_2105466704

2 SubmittersRCV001993280 RCV005031991

NM_024685.4(BBS10):c.197+1G>A

SNV
Germline

Chr12:76348161

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA385816045

rs_886042729

1 SubmittersRCV002035349

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_033028.5(BBS4):c.623T>A (p.Leu208Ter)

SNV
Germline

Chr15:72727975

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA393077512

rs_1358520224

1 SubmittersRCV001922611

NM_176824.3(BBS7):c.1510A>T (p.Arg504Ter)

SNV
Germline

Chr4:121835145

Pathogenic

Bardet-Biedl syndrome
BBS7-related disorder

Criteria Provided
Single Submitter

CA358058349

rs_1725385758

2 SubmittersRCV002000219 RCV004744177

NM_024685.4(BBS10):c.409C>T (p.Gln137Ter)

SNV
Germline

Chr12:76347576

Pathogenic

Bardet-Biedl syndrome
BBS10-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA385815331

rs_2136091166

2 SubmittersRCV001993164 RCV003408005

NM_015910.7(WDPCP):c.301C>T (p.Arg101Ter)

SNV
Germline

Chr2:63484940

Pathogenic

Bardet-Biedl syndrome
WDPCP-related disorder

Criteria Provided
Single Submitter

CA1682531

rs_772536466

2 SubmittersRCV001999985 RCV004746542

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_031885.5(BBS2):c.1798-2A>G

SNV
Germline

Chr16:56497081

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA395975698

rs_2144130282

1 SubmittersRCV002000329

NM_170784.3(MKKS):c.1013C>A (p.Ser338Ter)

SNV
Germline

Chr20:10408776

Pathogenic

Bardet-Biedl syndrome
McKusick-Kaufman syndrome

Criteria Provided
Single Submitter

CA408231858

rs_2122226112

1 SubmittersRCV002014756

NM_006642.5(SDCCAG8):c.250C>T (p.Gln84Ter)

SNV
Germline

Chr1:243271007

Pathogenic

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Single Submitter

CA345474852

rs_201658593

1 SubmittersRCV001932690

NM_198428.3(BBS9):c.263+1G>T

SNV
Germline

Chr7:33152852

Pathogenic

Bardet-Biedl syndrome
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA367190691

rs_137962929

2 SubmittersRCV001932752 RCV004815751

NM_015662.3(IFT172):c.5044C>T (p.Arg1682Ter)

SNV
Germline

Chr2:27445320

Pathogenic/Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71

Criteria Provided
Multiple Submitters
No Conflicts

CA346413434

rs_1329856696

2 SubmittersRCV001962945 RCV002497875

NM_024685.4(BBS10):c.883A>T (p.Lys295Ter)

SNV
Germline

Chr12:76347102

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA385813812

rs_2136090788

1 SubmittersRCV001908043

NM_031885.5(BBS2):c.963G>A (p.Thr321=)

SNV
Germline

Chr16:56502434

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
BBS2-related disorder
Retinitis pigmentosa 74
Bardet-Biedl syndrome 2

Criteria Provided
Conflicting Classifications

CA8065855

rs_748014865

3 SubmittersRCV001895556 RCV004538577 RCV005016739

NM_170784.3(MKKS):c.1085A>G (p.His362Arg)

SNV
Germline

Chr20:10408704

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
McKusick-Kaufman syndrome
McKusick-Kaufman syndrome
Bardet-Biedl syndrome 6
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9763565

rs_373858682

4 SubmittersRCV001922911 RCV002478377 RCV002556314

NM_152384.3(BBS5):c.520C>T (p.Gln174Ter)

SNV
Germline

Chr2:169493007

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA349164909

rs_2105297825

1 SubmittersRCV001941617

NM_031885.5(BBS2):c.1974T>G (p.Tyr658Ter)

SNV
Germline

Chr16:56485675

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA395973398

rs_895581773

1 SubmittersRCV001946899

NM_198428.3(BBS9):c.1561C>T (p.Arg521Ter)

SNV
Germline

Chr7:33357863

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 9
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA4214433

rs_748601675

3 SubmittersRCV001946902 RCV003464311 RCV004697175

NM_152384.3(BBS5):c.817-1G>T

SNV
Germline

Chr2:169503094

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
BBS5-related disorder
Bardet-Biedl syndrome 5

Criteria Provided
Conflicting Classifications

CA349168532

rs_1466289570

4 SubmittersRCV002016979 RCV004753474 RCV005025647

NM_025114.4(CEP290):c.4763T>G (p.Leu1588Ter)

SNV
Germline

Chr12:88083896

Pathogenic/Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14
CEP290-related disorder
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA6711868

rs_760653238

4 SubmittersRCV001913188 RCV004571578 RCV004728918 RCV006639077

NM_025114.4(CEP290):c.2887G>T (p.Glu963Ter)

SNV
Germline

Chr12:88102942

Pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385969667

rs_1180594304

2 SubmittersRCV001951020 RCV003471170

NM_015662.3(IFT172):c.2536C>T (p.Arg846Ter)

SNV
Germline

Chr2:27459815

Pathogenic/Likely pathogenic

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
Short-rib thoracic dysplasia 10 with or without polydactyly

Criteria Provided
Multiple Submitters
No Conflicts

CA1580254

rs_761095604

2 SubmittersRCV001972379 RCV002507702

NM_024685.4(BBS10):c.391C>T (p.Gln131Ter)

SNV
Germline

Chr12:76347594

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA385815377

rs_1565810183

1 SubmittersRCV001951171

NM_015662.3(IFT172):c.1005+10A>T

SNV
Germline

Chr2:27479499

Conflicting classifications of pathogenicity

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
Short-rib thoracic dysplasia 10 with or without polydactyly
IFT172-related disorder

Criteria Provided
Conflicting Classifications

CA1580804

rs_771534291

3 SubmittersRCV002044196 RCV002478095 RCV004552054

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_033028.5(BBS4):c.153C>T (p.Cys51=)

SNV
Germline

Chr15:72709776

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 4

Criteria Provided
Conflicting Classifications

CA7646509

rs_754709708

2 SubmittersRCV001871413 RCV002506958

NM_025114.4(CEP290):c.3240T>A (p.Tyr1080Ter)

SNV
Germline

Chr12:88093839

Pathogenic/Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA386006030

rs_886042467

2 SubmittersRCV001905654 RCV005006155

NM_015662.3(IFT172):c.1513C>T (p.Arg505Trp)

SNV
Germline

Chr2:27472261

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
IFT172-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1580630

rs_779152335

4 SubmittersRCV001925851 RCV002484481 RCV004552106 RCV005350747

NM_031885.5(BBS2):c.1932T>G (p.Tyr644Ter)

SNV
Germline

Chr16:56485717

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA395973664

rs_1044072013

2 SubmittersRCV001911429 RCV006639075

NM_025114.4(CEP290):c.5962G>T (p.Glu1988Ter)

SNV
Germline

Chr12:88071343

Pathogenic/Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385983463

rs_2035358840

2 SubmittersRCV001942295 RCV003471165

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_025114.4(CEP290):c.4651C>T (p.Gln1551Ter)

SNV
Germline

Chr12:88084639

Pathogenic/Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA6711898

rs_746305733

3 SubmittersRCV001898905 RCV003471029 RCV006639082

NM_144596.4(TTC8):c.266-2A>G

SNV
Germline

Chr14:88840863

Pathogenic

Bardet-Biedl syndrome
TTC8-related disorder

Criteria Provided
Single Submitter

CA390573373

rs_2140976096

2 SubmittersRCV001956372 RCV004728994

NM_025114.4(CEP290):c.3G>A (p.Met1Ile)

SNV
Germline

Chr12:88141305

Pathogenic/Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 5
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA6712932

rs_773525033

3 SubmittersRCV001956388 RCV005002725 RCV006639288

NM_031885.5(BBS2):c.471+1G>C

SNV
Germline

Chr16:56511158

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA395984292

rs_1555523584

1 SubmittersRCV001972726

NM_024685.4(BBS10):c.327G>A (p.Met109Ile)

SNV
Germline

Chr12:76347658

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Inborn genetic diseases
BBS10-related disorder

Criteria Provided
Conflicting Classifications

CA239332514

rs_1051916652

3 SubmittersRCV001872374 RCV004601549 RCV004741102

NM_017777.4(MKS1):c.191-1G>A

SNV
Germline

Chr17:58216737

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Bardet-Biedl syndrome 13
Joubert syndrome 28
Meckel syndrome, type 1
Bardet-Biedl syndrome 13
Condition: not provided
Meckel syndrome, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA8669609

rs_201362733

5 SubmittersRCV001972515 RCV003475233 RCV005016952 RCV006558133 RCV006639264

NM_024685.4(BBS10):c.84C>A (p.Cys28Ter)

SNV
Germline

Chr12:76348275

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 10

Criteria Provided
Multiple Submitters
No Conflicts

CA385816277

rs_1476664656

3 SubmittersRCV001947039 RCV002479586

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_017777.4(MKS1):c.1490+1G>A

SNV
Germline

Chr17:58206464

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Bardet-Biedl syndrome 13

Criteria Provided
Multiple Submitters
No Conflicts

CA400324617

rs_2143737350

2 SubmittersRCV002022975 RCV003475289

NM_025114.4(CEP290):c.181-9A>G

SNV
Germline

Chr12:88139573

Conflicting classifications of pathogenicity

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
CEP290-related disorder
Joubert syndrome 5
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Meckel syndrome, type 4

Criteria Provided
Conflicting Classifications

CA6712885

rs_745494615

3 SubmittersRCV002008872 RCV004538715 RCV005008362

NM_144596.4(TTC8):c.114+2T>C

SNV
Germline

Chr14:88824823

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 8

Criteria Provided
Multiple Submitters
No Conflicts

CA390568058

rs_1273244823

3 SubmittersRCV002033666 RCV002269385

NM_170784.3(MKKS):c.1028G>A (p.Ser343Asn)

SNV
Germline

Chr20:10408761

Conflicting classifications of pathogenicity

McKusick-Kaufman syndrome
Bardet-Biedl syndrome
McKusick-Kaufman syndrome
Bardet-Biedl syndrome 6
MKKS-related disorder

Criteria Provided
Conflicting Classifications

CA9763571

rs_558813240

4 SubmittersRCV001981975 RCV002468361 RCV004734352

NM_024685.4(BBS10):c.793C>T (p.Gln265Ter)

SNV
Germline

Chr12:76347192

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 10

Criteria Provided
Multiple Submitters
No Conflicts

CA239332225

rs_775090151

4 SubmittersRCV001941247 RCV003475186

NM_025114.4(CEP290):c.2140G>T (p.Glu714Ter)

SNV
Germline

Chr12:88111771

Pathogenic/Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA385975100

rs_1440259390

3 SubmittersRCV001906982 RCV003471033 RCV006639089

NM_144596.4(TTC8):c.145-10T>C

SNV
Germline

Chr14:88839442

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Retinitis pigmentosa 51
Bardet-Biedl syndrome 8

Criteria Provided
Conflicting Classifications

CA7302376

rs_754997963

2 SubmittersRCV001935799 RCV002479412

NM_024685.4(BBS10):c.1628A>G (p.Asn543Ser)

SNV
Germline

Chr12:76346357

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 10
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA385810745

rs_1444034224

3 SubmittersRCV002002623 RCV005002738 RCV006327388

NM_015910.7(WDPCP):c.869G>A (p.Arg290His)

SNV
Germline

Chr2:63404614

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
WDPCP-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1682317

rs_753480088

3 SubmittersRCV001891256 RCV003416547 RCV004970419

NM_176824.3(BBS7):c.1676+7C>G

SNV
Germline

Chr4:121833224

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 7

Criteria Provided
Conflicting Classifications

CA554524273

rs_1247015446

2 SubmittersRCV001892899 RCV002478272

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_015662.3(IFT172):c.877G>A (p.Ala293Thr)

SNV
Germline

Chr2:27480058

Conflicting classifications of pathogenicity

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Inborn genetic diseases
IFT172-related disorder
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
Short-rib thoracic dysplasia 10 with or without polydactyly

Criteria Provided
Conflicting Classifications

CA1580843

rs_370903625

4 SubmittersRCV001863567 RCV003164055 RCV004738398 RCV005023295

NM_015662.3(IFT172):c.4909G>A (p.Val1637Ile)

SNV
Germline

Chr2:27445750

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Condition: not provided
IFT172-related disorder
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71

Criteria Provided
Conflicting Classifications

CA1579432

rs_571686284

4 SubmittersRCV001910073 RCV003490931 RCV004552103 RCV005023428

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_025114.4(CEP290):c.4677T>G (p.Tyr1559Ter)

SNV
Germline

Chr12:88084613

Pathogenic/Likely pathogenic

Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 5
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA385994556

rs_2137182509

3 SubmittersRCV001979757 RCV005006295 RCV005607036

NM_033028.5(BBS4):c.711+1G>A

SNV
Germline

Chr15:72729685

Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA393077993

rs_2151044091

2 SubmittersRCV002021168 RCV005002778

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_015662.3(IFT172):c.5104C>T (p.Arg1702Trp)

SNV
Germline

Chr2:27445070

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1579358

rs_560831644

3 SubmittersRCV001922303 RCV002506953 RCV003888374

NM_025114.4(CEP290):c.10A>G (p.Asn4Asp)

SNV
Germline

Chr12:88141298

Conflicting classifications of pathogenicity

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Inborn genetic diseases
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA241168932

rs_997653455

4 SubmittersRCV001916478 RCV004975851 RCV005002661 RCV004733414

NM_015662.3(IFT172):c.1964C>T (p.Ala655Val)

SNV
Germline

Chr2:27463155

Conflicting classifications of pathogenicity

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
IFT172-related disorder
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20

Criteria Provided
Conflicting Classifications

CA1580469

rs_370407165

3 SubmittersRCV002135900 RCV004553831 RCV005017152

NM_025114.4(CEP290):c.3378G>A (p.Val1126=)

SNV
Germline

Chr12:88092764

Conflicting classifications of pathogenicity

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Leber congenital amaurosis 10
CEP290-related disorder

Criteria Provided
Conflicting Classifications

CA6712155

rs_546939043

3 SubmittersRCV002142105 RCV005002797 RCV004543835

NM_031885.5(BBS2):c.945G>A (p.Arg315=)

SNV
Germline

Chr16:56502452

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Retinal dystrophy
BBS2-related disorder

Criteria Provided
Conflicting Classifications

CA8065858

rs_2288057

3 SubmittersRCV002213593 RCV003889101 RCV004733497

NM_020347.4(LZTFL1):c.645C>T (p.Val215=)

SNV
Germline

Chr3:45828571

Conflicting classifications of pathogenicity

Condition: not provided
LZTFL1-related disorder
Bardet-Biedl syndrome 17

Criteria Provided
Conflicting Classifications

CA2351883

rs_781281594

3 SubmittersRCV002112286 RCV004749853 RCV005032160

NM_025114.4(CEP290):c.298-16G>A

SNV
Germline

Chr12:88136802

Conflicting classifications of pathogenicity

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Leber congenital amaurosis 10

Criteria Provided
Conflicting Classifications

CA6712840

rs_531851010

2 SubmittersRCV002078512 RCV005002795

NM_006642.5(SDCCAG8):c.307-5C>T

SNV
Germline

Chr1:243274538

Conflicting classifications of pathogenicity

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Conflicting Classifications

CA2573132944

rs_2149268621

2 SubmittersRCV002094474

NM_015662.3(IFT172):c.786-18C>G

SNV
Germline

Chr2:27480167

Conflicting classifications of pathogenicity

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
Short-rib thoracic dysplasia 10 with or without polydactyly

Criteria Provided
Conflicting Classifications

CA1580865

rs_773491435

2 SubmittersRCV002087241 RCV005017105

NM_033028.5(BBS4):c.332+8T>C

SNV
Germline

Chr15:72715410

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA618764745

rs_1456405256

3 SubmittersRCV002152160 RCV003229082 RCV005620439

NM_198428.3(BBS9):c.2217G>T (p.Ala739=)

SNV
Germline

Chr7:33505564

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 9

Criteria Provided
Conflicting Classifications

CA4214630

rs_749322793

2 SubmittersRCV002199623 RCV005042714

NM_144596.4(TTC8):c.625-12T>C

SNV
Germline

Chr14:88852959

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Retinitis pigmentosa 51
Bardet-Biedl syndrome 8

Criteria Provided
Conflicting Classifications

CA7302550

rs_372412832

2 SubmittersRCV002105270 RCV005008459

NM_015662.3(IFT172):c.2442+13C>T

SNV
Germline

Chr2:27461256

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71

Criteria Provided
Conflicting Classifications

CA1580315

rs_749766704

2 SubmittersRCV002158097 RCV005017137

NM_025114.4(CEP290):c.6027T>C (p.Leu2009=)

SNV
Germline

Chr12:88068630

Conflicting classifications of pathogenicity

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Leber congenital amaurosis 10
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6711589

rs_766355219

3 SubmittersRCV002171049 RCV002500098 RCV006251110

NM_024685.4(BBS10):c.179T>G (p.Leu60Ter)

SNV
Germline

Chr12:76348180

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA385816084

rs_2136091512

1 SubmittersRCV002223035

NM_152384.3(BBS5):c.1A>G (p.Met1Val)

SNV
Germline

Chr2:169479554

Pathogenic

Bardet-Biedl syndrome 5

No Assertion Criteria Provided

CA349158112

rs_536117380

1 SubmittersRCV002227838

NM_177965.4(CFAP418):c.414G>A (p.Leu138=)

SNV
Germline

Chr8:95252244

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-biedl syndrome 21
Retinitis pigmentosa
Cone-rod dystrophy 16

Criteria Provided
Conflicting Classifications

CA4815145

rs_150592488

2 SubmittersRCV002238768 RCV002481046

NM_152384.3(BBS5):c.209-1G>A

SNV
Germline

Chr2:169487805

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 5
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA349161314

rs_1172161975

2 SubmittersRCV002249291 RCV005095820

NM_198428.3(BBS9):c.702+1G>A

SNV
Germline

Chr7:33264375

Pathogenic

Bardet-Biedl syndrome 9

Criteria Provided
Single Submitter

CA367253659

rs_2128325966

1 SubmittersRCV002249292

NM_176824.3(BBS7):c.526C>T (p.Gln176Ter)

SNV
Germline

Chr4:121858994

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 7
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA358042691

rs_2149084783

2 SubmittersRCV002251262 RCV005095849

NM_144596.4(TTC8):c.265+1G>A

SNV
Germline

Chr14:88839573

Pathogenic/Likely pathogenic

Retinitis pigmentosa 51
Bardet-Biedl syndrome 8
Bardet-Biedl syndrome
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7302398

rs_139234943

4 SubmittersRCV002262185 RCV003095955 RCV004816991 RCV005635474

NM_025114.4(CEP290):c.2499G>A (p.Trp833Ter)

SNV
Germline

Chr12:88107083

Pathogenic/Likely pathogenic

CEP290-related disorder
Bardet-Biedl syndrome 14
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA385972164

rs_2137624440

3 SubmittersRCV002266544 RCV004572105 RCV003774847

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_033028.5(BBS4):c.220G>A (p.Ala74Thr)

SNV
Germline

Chr15:72712307

Pathogenic

Bardet-Biedl syndrome 4

Criteria Provided
Single Submitter

CA393076226

rs_2065388358

1 SubmittersRCV003107988

NM_198428.3(BBS9):c.1120C>T (p.Arg374Ter)

SNV
Germline

Chr7:33336544

Pathogenic

Condition: not provided
Bardet-Biedl syndrome 9
Bardet-Biedl syndrome
BBS9-related disorder
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA156726915

rs_998200637

7 SubmittersRCV002276164 RCV003464428 RCV003523123 RCV003973376 RCV004816999

NM_006642.5(SDCCAG8):c.1853+2T>C

SNV
Germline

Chr1:243418078

Likely pathogenic

Bardet-Biedl syndrome 16

Criteria Provided
Single Submitter

CA345667625

rs_2528456354

1 SubmittersRCV002280293

NM_001278293.3(ARL6):c.505G>T (p.Gly169Cys)

SNV
Germline

Chr3:97791796

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 3

Criteria Provided
Conflicting Classifications

CA353589376

rs_2530011116

2 SubmittersRCV002289488

NM_024685.4(BBS10):c.569T>C (p.Ile190Thr)

SNV
Germline

Chr12:76347416

Likely pathogenic

Bardet-Biedl syndrome 10

Criteria Provided
Single Submitter

CA385814897

rs_2540956687

1 SubmittersRCV002291522

NM_024685.4(BBS10):c.1189A>G (p.Ile397Val)

SNV
Germline

Chr12:76346796

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
BBS10-related disorder
Condition: not provided
Bardet-Biedl syndrome 10

Criteria Provided
Conflicting Classifications

CA6694209

rs_202042386

5 SubmittersRCV002308629 RCV003418448 RCV004719254 RCV005002824

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_031885.5(BBS2):c.1088T>A (p.Leu363Ter)

SNV
Unknown

Chr16:56501490

Likely pathogenic

Bardet-Biedl syndrome 2

Criteria Provided
Single Submitter

CA395980239

rs_2543709618

1 SubmittersRCV002310029

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_031885.5(BBS2):c.691A>T (p.Lys231Ter)

SNV
Unknown

Chr16:56506146

Likely pathogenic

Bardet-Biedl syndrome 2

Criteria Provided
Single Submitter

CA395982951

rs_754487754

1 SubmittersRCV002306836

NM_031885.5(BBS2):c.766G>T (p.Gly256Ter)

SNV
Unknown

Chr16:56505988

Likely pathogenic

Bardet-Biedl syndrome 2

Criteria Provided
Single Submitter

CA395982682

rs_886052147

1 SubmittersRCV002307344

NM_031885.5(BBS2):c.1747G>T (p.Glu583Ter)

SNV
Unknown

Chr16:56497793

Likely pathogenic

Bardet-Biedl syndrome 2

Criteria Provided
Single Submitter

CA395975884

rs_2543698377

1 SubmittersRCV002310187

NM_031885.5(BBS2):c.802A>T (p.Lys268Ter)

SNV
Unknown

Chr16:56505952

Likely pathogenic

Bardet-Biedl syndrome 2

Criteria Provided
Single Submitter

CA395982558

rs_2543720549

1 SubmittersRCV002310441

NM_152384.3(BBS5):c.82G>T (p.Glu28Ter)

SNV
Germline

Chr2:169482273

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA349159778

rs_2468033187

1 SubmittersRCV002470156

NM_015662.3(IFT172):c.786-2A>T

SNV
Germline

Chr2:27480151

Conflicting classifications of pathogenicity

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
IFT172-related disorder

Criteria Provided
Conflicting Classifications

CA1580858

rs_757253624

4 SubmittersRCV002471620 RCV002571459 RCV005025838 RCV004738582

NM_001278293.3(ARL6):c.534A>G (p.Gln178=)

SNV
Germline

Chr3:97791825

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 3
Retinitis pigmentosa 55
Bardet-Biedl syndrome 3
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA2505992

rs_756341249

3 SubmittersRCV002471841 RCV003775513 RCV005626663

NM_025114.4(CEP290):c.2506G>T (p.Glu836Ter)

SNV
Germline

Chr12:88107076

Pathogenic/Likely pathogenic

Leber congenital amaurosis 10
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385972115

rs_2038340977

2 SubmittersRCV002470298 RCV004571174

NM_033028.5(BBS4):c.1180C>T (p.Gln394Ter)

SNV
Germline

Chr15:72735898

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA393080103

rs_2543012369

3 SubmittersRCV003058480 RCV003138468

NM_006642.5(SDCCAG8):c.1357-12A>T

SNV
Germline

Chr1:243344203

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 16
Senior-Loken syndrome 7

Criteria Provided
Conflicting Classifications

CA1483629

rs_754786846

2 SubmittersRCV003051401

NM_025114.4(CEP290):c.6640A>T (p.Lys2214Ter)

SNV
Germline

Chr12:88059903

Pathogenic/Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Condition: not provided
Bardet-Biedl syndrome 14
Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA6711460

rs_768065164

4 SubmittersRCV003062529 RCV003138466 RCV003465923 RCV005010896

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

SNV
Germline

Chr11:66523869

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA381462747

rs_2495780320

2 SubmittersRCV003062412

NM_176824.3(BBS7):c.102+1G>T

SNV
Germline

Chr4:121867980

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA358045888

rs_764862220

1 SubmittersRCV003066815

NM_198428.3(BBS9):c.358C>T (p.Gln120Ter)

SNV
Germline

Chr7:33177507

Pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 9

Criteria Provided
Multiple Submitters
No Conflicts

CA4213969

rs_749403663

2 SubmittersRCV003079872 RCV005034662

NM_017777.4(MKS1):c.1408-14A>G

SNV
Germline

Chr17:58206561

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Bardet-Biedl syndrome 13
Joubert syndrome 28
Meckel syndrome, type 1
Bardet-Biedl syndrome 13

Criteria Provided
Multiple Submitters
No Conflicts

CA626728857

rs_1194131222

3 SubmittersRCV003086166 RCV004572762 RCV005028211

NM_017777.4(MKS1):c.859-2A>C

SNV
Germline

Chr17:58212436

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 28
Meckel syndrome, type 1
Bardet-Biedl syndrome 13

Criteria Provided
Multiple Submitters
No Conflicts

CA400326321

rs_1968931002

2 SubmittersRCV003070106 RCV005021541

NM_170784.3(MKKS):c.1272+2T>C

SNV
Germline

Chr20:10407614

Pathogenic

Bardet-Biedl syndrome
McKusick-Kaufman syndrome
MKKS-related disorder

Criteria Provided
Single Submitter

CA408231270

rs_2064851971

2 SubmittersRCV003072068 RCV004736260

NM_024685.4(BBS10):c.1249G>A (p.Ala417Thr)

SNV
Germline

Chr12:76346736

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA385812014

rs_2540955932

2 SubmittersRCV003079147

NM_176824.3(BBS7):c.934+10A>G

SNV
Germline

Chr4:121848834

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 7
BBS7-related disorder

Criteria Provided
Conflicting Classifications

CA3064365

rs_745659988

3 SubmittersRCV003077715 RCV005028194 RCV003926685

NM_006642.5(SDCCAG8):c.220+17A>G

SNV
Germline

Chr1:243270274

Conflicting classifications of pathogenicity

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Conflicting Classifications

CA1483225

rs_772231725

2 SubmittersRCV003084236

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_024649.5(BBS1):c.526C>T (p.Gln176Ter)

SNV
Germline

Chr11:66515868

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA381457507

rs_777765120

6 SubmittersRCV003080656 RCV005419565 RCV004744587 RCV005930494

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_025114.4(CEP290):c.5709+2T>G

SNV
Germline

Chr12:88077220

Pathogenic/Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14
Joubert syndrome 5
Meckel syndrome, type 4
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA385987155

rs_2499838601

4 SubmittersRCV002585497 RCV003465972 RCV005011021 RCV006641221

NM_033028.5(BBS4):c.1264C>T (p.Gln422Ter)

SNV
Germline

Chr15:72736777

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA7646981

rs_780827837

2 SubmittersRCV002619764 RCV003459759

NM_024649.5(BBS1):c.889C>T (p.Arg297Trp)

SNV
Germline

Chr11:66523514

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 1

Criteria Provided
Conflicting Classifications

CA6123542

rs_762566248

2 SubmittersRCV002606079 RCV005050750

NM_025114.4(CEP290):c.1681C>T (p.Gln561Ter)

SNV
Germline

Chr12:88118513

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385978842

rs_1475139450

2 SubmittersRCV002591896 RCV004572789

NM_015910.7(WDPCP):c.679C>T (p.Arg227Ter)

SNV
Germline

Chr2:63433891

Pathogenic

Bardet-Biedl syndrome
WDPCP-related disorder

Criteria Provided
Single Submitter

CA49236694

rs_894887380

2 SubmittersRCV002633446 RCV004747222

NM_006642.5(SDCCAG8):c.1068+1G>A

SNV
Germline

Chr1:243316894

Pathogenic

Bardet-Biedl syndrome 16
Senior-Loken syndrome 7

Criteria Provided
Single Submitter

CA345481065

rs_2073290478

1 SubmittersRCV002651436

NM_001278293.3(ARL6):c.255A>G (p.Lys85=)

SNV
Germline

Chr3:97784955

Conflicting classifications of pathogenicity

Retinitis pigmentosa 55
Bardet-Biedl syndrome 3
ARL6-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2505916

rs_779384199

3 SubmittersRCV002664273 RCV004747232 RCV005714935

NM_015662.3(IFT172):c.5161-5C>G

SNV
Germline

Chr2:27444526

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71

Criteria Provided
Conflicting Classifications

CA531445676

rs_1259207198

2 SubmittersRCV002624130 RCV005028287

NM_033028.5(BBS4):c.642+1G>A

SNV
Germline

Chr15:72727995

Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA393077555

rs_1180642796

2 SubmittersRCV002650921 RCV004572803

NM_033028.5(BBS4):c.10G>T (p.Glu4Ter)

SNV
Germline

Chr15:72686237

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA393075014

rs_1336636537

3 SubmittersRCV002624712 RCV003459766

NM_033028.5(BBS4):c.220+1G>A

SNV
Germline

Chr15:72712308

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 4
BBS4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA393076232

rs_113994190

3 SubmittersRCV002629533 RCV003459767 RCV004750302

NM_015910.7(WDPCP):c.253+1G>A

SNV
Germline

Chr2:63486541

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA347066064

rs_776267465

1 SubmittersRCV002634017

NM_170784.3(MKKS):c.462G>A (p.Val154=)

SNV
Germline

Chr20:10413053

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
McKusick-Kaufman syndrome
Bardet-Biedl syndrome 6
McKusick-Kaufman syndrome

Criteria Provided
Conflicting Classifications

CA509815388

rs_1487665337

2 SubmittersRCV002644510 RCV005028314

NM_144596.4(TTC8):c.677G>A (p.Trp226Ter)

SNV
Germline

Chr14:88853023

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Retinitis pigmentosa 51
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA264565310

rs_948160026

4 SubmittersRCV003104968 RCV003459776 RCV006698493 RCV004818285

NM_176824.3(BBS7):c.719G>T (p.Gly240Val)

SNV
Germline

Chr4:121853086

Pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 7

Criteria Provided
Single Submitter

CA3064415

rs_761403504

2 SubmittersRCV003112167 RCV006555116

NM_025114.4(CEP290):c.2597A>G (p.Asn866Ser)

SNV
Germline

Chr12:88106895

Conflicting classifications of pathogenicity

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Retinal dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA241149017

rs_934685879

4 SubmittersRCV003121266 RCV005003016 RCV004818287 RCV006342890

NM_144596.4(TTC8):c.256C>T (p.Gln86Ter)

SNV
Germline

Chr14:88839563

Pathogenic

Bardet-Biedl syndrome
Retinitis pigmentosa 51

Criteria Provided
Multiple Submitters
No Conflicts

CA264582193

rs_928368462

2 SubmittersRCV003116994 RCV003459780

NM_025114.4(CEP290):c.3461+9A>G

SNV
Germline

Chr12:88092672

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4

Criteria Provided
Conflicting Classifications

CA606456149

rs_1301659851

2 SubmittersRCV002601022 RCV005008649

NM_017777.4(MKS1):c.1274-2A>C

SNV
Germline

Chr17:58207220

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Bardet-Biedl syndrome 13

Criteria Provided
Multiple Submitters
No Conflicts

CA400325073

rs_2509407984

2 SubmittersRCV002617261 RCV003475400

NM_006642.5(SDCCAG8):c.46C>T (p.Gln16Ter)

SNV
Germline

Chr1:243256219

Pathogenic

Bardet-Biedl syndrome 16
Senior-Loken syndrome 7

Criteria Provided
Single Submitter

CA345478185

rs_1270412613

1 SubmittersRCV002602013

NM_033028.5(BBS4):c.1083C>A (p.Tyr361Ter)

SNV
Germline

Chr15:72735159

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA7646884

rs_749282837

1 SubmittersRCV002613613

NM_006642.5(SDCCAG8):c.523G>T (p.Glu175Ter)

SNV
Germline

Chr1:243286374

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 16
Senior-Loken syndrome 7

Criteria Provided
Multiple Submitters
No Conflicts

CA1483328

rs_767375284

2 SubmittersRCV002587370

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_025114.4(CEP290):c.1189+2T>C

SNV
Germline

Chr12:88125244

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14
CEP290-related ciliopathy

Reviewed By Expert Panel

CA385981020

rs_2501269442

3 SubmittersRCV002635356 RCV003465803 RCV006733360

NM_025103.4(IFT74):c.358G>T (p.Glu120Ter)

SNV
Germline

Chr9:26984309

Pathogenic/Likely pathogenic

Condition: not provided
Joubert syndrome 40
IFT74-related disorder
Bardet-Biedl syndrome 22

Criteria Provided
Multiple Submitters
No Conflicts

CA373127516

rs_1391036863

4 SubmittersRCV002625958 RCV003147778 RCV004725329 RCV005254118

NM_031885.5(BBS2):c.1911-1G>C

SNV
Germline

Chr16:56485739

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA395973866

rs_1555520256

1 SubmittersRCV002658309

NM_025114.4(CEP290):c.1910-1G>A

SNV
Germline

Chr12:88114563

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA385977052

rs_2500817276

3 SubmittersRCV002640094 RCV004571200 RCV006641010

NM_033028.5(BBS4):c.333-2A>C

SNV
Germline

Chr15:72716776

Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 4
BBS4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA7646595

rs_374525425

3 SubmittersRCV002649972 RCV003464579 RCV004749936

NM_031885.5(BBS2):c.1163C>A (p.Ser388Ter)

SNV
Germline

Chr16:56501415

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395979950

rs_745820842

2 SubmittersRCV005608747 RCV002725966

NM_033028.5(BBS4):c.67C>T (p.Gln23Ter)

SNV
Germline

Chr15:72695219

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA393075570

rs_2542892241

2 SubmittersRCV002740200 RCV004571215

NM_025114.4(CEP290):c.853-2A>G

SNV
Germline

Chr12:88129037

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385984098

rs_2039902653

2 SubmittersRCV002694938 RCV003465814

NM_152384.3(BBS5):c.844G>T (p.Glu282Ter)

SNV
Germline

Chr2:169503122

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA349168666

rs_759233586

1 SubmittersRCV002760635

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_031885.5(BBS2):c.1421C>T (p.Ser474Leu)

SNV
Germline

Chr16:56499884

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8065740

rs_768215650

2 SubmittersRCV002731582 RCV006327511

NM_024685.4(BBS10):c.1925A>G (p.Lys642Arg)

SNV
Germline

Chr12:76346060

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6694082

rs_143062348

3 SubmittersRCV002751161 RCV004966088 RCV004790244

NM_024649.5(BBS1):c.59A>G (p.Asn20Ser)

SNV
Germline

Chr11:66511024

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA224071420

rs_879216710

2 SubmittersRCV002756858 RCV006327514

NM_031885.5(BBS2):c.79A>C (p.Thr27Pro)

SNV
Germline

Chr16:56519784

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 2
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74

Criteria Provided
Multiple Submitters
No Conflicts

CA395988064

rs_776681366

4 SubmittersRCV002805536 RCV006641042 RCV005019395

NM_198428.3(BBS9):c.1330-10G>T

SNV
Germline

Chr7:33349058

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
BBS9-related disorder
Bardet-Biedl syndrome 9

Criteria Provided
Conflicting Classifications

CA4214283

rs_779072984

3 SubmittersRCV002776337 RCV003903780 RCV005034426

NM_006642.5(SDCCAG8):c.420+1G>C

SNV
Germline

Chr1:243274657

Likely pathogenic

Bardet-Biedl syndrome 16
Senior-Loken syndrome 7

Criteria Provided
Multiple Submitters
No Conflicts

CA40413669

rs_959585740

2 SubmittersRCV002775143

NM_015910.7(WDPCP):c.825+1G>A

SNV
Germline

Chr2:63433744

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA347062177

rs_2466926997

1 SubmittersRCV002766059

NM_198428.3(BBS9):c.1022T>A (p.Leu341Ter)

SNV
Germline

Chr7:33336446

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 9

Criteria Provided
Multiple Submitters
No Conflicts

CA4214181

rs_372905559

2 SubmittersRCV002800409 RCV003464599

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

SNV
Germline

Chr11:66510661

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381453164

rs_1222159281

3 SubmittersRCV002770915 RCV005635618

NM_006642.5(SDCCAG8):c.1853+2T>A

SNV
Germline

Chr1:243418078

Likely pathogenic

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Single Submitter

CA345667624

rs_2528456354

1 SubmittersRCV002811519

NM_198428.3(BBS9):c.2368G>T (p.Glu790Ter)

SNV
Germline

Chr7:33534023

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA367256830

rs_2537669983

1 SubmittersRCV002837499

NM_025114.4(CEP290):c.441+1G>C

SNV
Germline

Chr12:88136642

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385987066

rs_1184012636

2 SubmittersRCV002815556 RCV003464604

NM_025114.4(CEP290):c.6011+2T>G

SNV
Germline

Chr12:88071292

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385983058

rs_2499726960

2 SubmittersRCV002801728 RCV003465837

NM_006642.5(SDCCAG8):c.1617-1G>A

SNV
Germline

Chr1:243415701

Likely pathogenic

Bardet-Biedl syndrome 16
Senior-Loken syndrome 7

Criteria Provided
Single Submitter

CA345667057

rs_2528443064

1 SubmittersRCV002796068

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_031885.5(BBS2):c.1225+2T>C

SNV
Germline

Chr16:56501351

Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA395979816

rs_1279981768

2 SubmittersRCV002823922 RCV003464603

NM_017777.4(MKS1):c.1045C>T (p.Gln349Ter)

SNV
Germline

Chr17:58208563

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Bardet-Biedl syndrome 13

Criteria Provided
Multiple Submitters
No Conflicts

CA400325879

rs_1968675432

2 SubmittersRCV002842575 RCV003475433

NM_006642.5(SDCCAG8):c.849T>A (p.Cys283Ter)

SNV
Germline

Chr1:243308097

Pathogenic

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Single Submitter

CA345479194

rs_2547886035

1 SubmittersRCV002842727

NM_033028.5(BBS4):c.1248+1G>A

SNV
Germline

Chr15:72735967

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 4
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA393080259

rs_1419924139

2 SubmittersRCV003464613 RCV002861723

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_025114.4(CEP290):c.442-1G>A

SNV
Germline

Chr12:88131219

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA385986700

rs_2040047006

2 SubmittersRCV002880883 RCV005002894

NM_025114.4(CEP290):c.5098G>T (p.Glu1700Ter)

SNV
Germline

Chr12:88080310

Pathogenic/Likely pathogenic

Meckel-Gruber syndrome
Nephronophthisis
Joubert syndrome
Bardet-Biedl syndrome 14
Leber congenital amaurosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA385991339

rs_2499911272

4 SubmittersRCV002857203 RCV003465849 RCV005608794 RCV005642860

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_176824.3(BBS7):c.1305+2T>A

SNV
Germline

Chr4:121843925

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA358061229

rs_2476490195

1 SubmittersRCV002848177

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_198428.3(BBS9):c.459C>A (p.Cys153Ter)

SNV
Germline

Chr7:33257252

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA367252711

rs_1423096639

1 SubmittersRCV002876827

NM_152384.3(BBS5):c.59+5G>T

SNV
Germline

Chr2:169479617

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA2580064464

rs_2105290053

1 SubmittersRCV002866363

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_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_025114.4(CEP290):c.3721A>T (p.Lys1241Ter)

SNV
Germline

Chr12:88089340

Pathogenic/Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA386000850

rs_2500113822

2 SubmittersRCV002885198 RCV004571420

NM_025114.4(CEP290):c.2587-1G>T

SNV
Germline

Chr12:88106906

Pathogenic/Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385971663

rs_1247861318

2 SubmittersRCV002894942 RCV003465862

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_031885.5(BBS2):c.243C>T (p.Gly81=)

SNV
Germline

Chr16:56514555

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Retinitis pigmentosa 74
Bardet-Biedl syndrome 2

Criteria Provided
Conflicting Classifications

CA8066091

rs_368760651

2 SubmittersRCV002917280 RCV005019442

NM_033028.5(BBS4):c.76+2T>C

SNV
Germline

Chr15:72695230

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA7646463

rs_766665064

2 SubmittersRCV002952402 RCV005010799

NM_033028.5(BBS4):c.640C>T (p.Gln214Ter)

SNV
Germline

Chr15:72727992

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA393077549

rs_1375331013

1 SubmittersRCV002947648

NM_198428.3(BBS9):c.328+20A>G

SNV
Germline

Chr7:33155722

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 9

Criteria Provided
Conflicting Classifications

CA4213950

rs_761676028

2 SubmittersRCV002904473 RCV005034481

NM_198428.3(BBS9):c.966G>A (p.Trp322Ter)

SNV
Germline

Chr7:33273906

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 9
BBS9-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA156720023

rs_928813600

4 SubmittersRCV002910177 RCV003464638 RCV003906343

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_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_025114.4(CEP290):c.102+2T>A

SNV
Germline

Chr12:88141204

Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385990065

rs_763226787

2 SubmittersRCV002952940 RCV003465871

NM_017777.4(MKS1):c.1074C>A (p.Cys358Ter)

SNV
Germline

Chr17:58208534

Pathogenic/Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Bardet-Biedl syndrome 13
Joubert syndrome 28
Meckel syndrome, type 1
Bardet-Biedl syndrome 13
Meckel syndrome, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA400325823

rs_1411471923

4 SubmittersRCV002962499 RCV003475458 RCV005019515 RCV006641104

NM_031885.5(BBS2):c.1397+2T>C

SNV
Germline

Chr16:56500852

Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA8065754

rs_779506379

2 SubmittersRCV002953706 RCV003464642

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6123816

rs_759763673

4 SubmittersRCV002975456 RCV004068272 RCV004744510 RCV005865590

NM_015910.7(WDPCP):c.161-1G>C

SNV
Germline

Chr2:63487495

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA347066282

rs_1177318115

1 SubmittersRCV003005446

NM_025114.4(CEP290):c.6270+2T>C

SNV
Germline

Chr12:88063979

Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385979504

rs_2499616926

2 SubmittersRCV003010340 RCV003465892

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_001278293.3(ARL6):c.350-2A>C

SNV
Germline

Chr3:97787988

Pathogenic/Likely pathogenic

Retinitis pigmentosa 55
Bardet-Biedl syndrome 3
ARL6-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA353587873

rs_2529972867

3 SubmittersRCV003022773 RCV004747178 RCV006698481

NM_198428.3(BBS9):c.763C>T (p.Gln255Ter)

SNV
Germline

Chr7:33273072

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA367254147

rs_1800104267

1 SubmittersRCV003018575

NM_031885.5(BBS2):c.717+1G>T

SNV
Germline

Chr16:56506119

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Retinitis pigmentosa 74
Bardet-Biedl syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA395982868

rs_1047075022

2 SubmittersRCV003018640 RCV005019559

NM_017777.4(MKS1):c.190+1G>A

SNV
Germline

Chr17:58218619

Likely pathogenic

Joubert syndrome
Meckel-Gruber syndrome
Bardet-Biedl syndrome 13

Criteria Provided
Multiple Submitters
No Conflicts

CA8669631

rs_745518012

2 SubmittersRCV003017585 RCV003475472

NM_001177701.3(IFT27):c.97C>T (p.Gln33Ter)

SNV
Germline

Chr22:36767800

Pathogenic

Condition: not provided
Bardet-Biedl syndrome 19

Criteria Provided
Single Submitter

CA411386400

rs_1938292111

2 SubmittersRCV003022610 RCV004540508

NM_025114.4(CEP290):c.6838A>T (p.Lys2280Ter)

SNV
Germline

Chr12:88055698

Pathogenic/Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
CEP290-related ciliopathy
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385976655

rs_2499472817

3 SubmittersRCV003043024 RCV003250703 RCV003465904

NM_001278293.3(ARL6):c.127C>T (p.Gln43Ter)

SNV
Germline

Chr3:97780162

Pathogenic

Bardet-Biedl syndrome 3
Retinitis pigmentosa 55

Criteria Provided
Single Submitter

CA2505865

rs_754763072

1 SubmittersRCV003032456

NM_001278293.3(ARL6):c.262C>T (p.Gln88Ter)

SNV
Germline

Chr3:97784962

Pathogenic

Bardet-Biedl syndrome 3
Retinitis pigmentosa 55

Criteria Provided
Single Submitter

CA353587022

rs_2529939726

1 SubmittersRCV003028654

NM_033028.5(BBS4):c.642+1G>T

SNV
Germline

Chr15:72727995

Likely pathogenic

Bardet-Biedl syndrome
BBS4-related disorder

Criteria Provided
Single Submitter

CA393077557

rs_1180642796

2 SubmittersRCV003024192 RCV004725468

NM_031885.5(BBS2):c.613-1G>T

SNV
Germline

Chr16:56506225

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA395983381

rs_2144163316

1 SubmittersRCV003043683

NM_012210.4(TRIM32):c.928G>T (p.Glu310Ter)

SNV
Germline

Chr9:116698670

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA374650399

rs_2491063488

1 SubmittersRCV003047756

NM_025114.4(CEP290):c.5147C>A (p.Ser1716Ter)

SNV
Germline

Chr12:88080261

Pathogenic/Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14
CEP290-related disorder
Leber congenital amaurosis
Meckel syndrome, type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA6711786

rs_771864158

5 SubmittersRCV003055543 RCV003459714 RCV004733557 RCV006641150 RCV006249846

NM_024685.4(BBS10):c.1767C>G (p.Tyr589Ter)

SNV
Germline

Chr12:76346218

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA385809997

rs_1565809409

1 SubmittersRCV003024856

NM_015662.3(IFT172):c.4914+1G>A

SNV
Germline

Chr2:27445744

Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71

Criteria Provided
Multiple Submitters
No Conflicts

CA346414258

rs_1436511287

2 SubmittersRCV003049497 RCV005028132

NM_170784.3(MKKS):c.1149G>A (p.Trp383Ter)

SNV
Germline

Chr20:10408640

Pathogenic

Bardet-Biedl syndrome
McKusick-Kaufman syndrome

Criteria Provided
Single Submitter

CA408231553

rs_2514490284

1 SubmittersRCV003033179

NM_025114.4(CEP290):c.3574-1G>A

SNV
Germline

Chr12:88089488

Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA386001420

rs_2500121878

2 SubmittersRCV003059556 RCV004572641

NM_033028.5(BBS4):c.1288G>T (p.Val430Phe)

SNV
Germline

Chr15:72736801

Conflicting classifications of pathogenicity

Inborn genetic diseases
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA393080515

rs_2065932944

2 SubmittersRCV002692676 RCV003222466

NM_015910.7(WDPCP):c.2068T>C (p.Ser690Pro)

SNV
Germline

Chr2:63174680

Conflicting classifications of pathogenicity

Inborn genetic diseases
WDPCP-related disorder
Bardet-Biedl syndrome 15
Heart defect - tongue hamartoma - polysyndactyly syndrome

Criteria Provided
Conflicting Classifications

CA1682025

rs_766136478

3 SubmittersRCV002752110 RCV004747241 RCV005036545

NM_015662.3(IFT172):c.2976-2A>T

SNV
Germline

Chr2:27457978

Likely pathogenic

Inborn genetic diseases
Bardet-Biedl syndrome 20
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71

Criteria Provided
Multiple Submitters
No Conflicts

CA346380931

rs_1666303205

2 SubmittersRCV002891269 RCV005021713

NM_198428.3(BBS9):c.2113C>T (p.Gln705Ter)

SNV
Unknown

Chr7:33388142

Likely pathogenic

Bardet-Biedl syndrome 9

Criteria Provided
Single Submitter

CA367254425

rs_2536370797

1 SubmittersRCV003110191

NM_025114.4(CEP290):c.7081C>T (p.Gln2361Ter)

SNV
Germline

Chr12:88053700

Pathogenic/Likely pathogenic

CEP290-related disorder
Bardet-Biedl syndrome 14
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA241147106

rs_878896889

4 SubmittersRCV003123526 RCV003466017 RCV003778673 RCV006641289

NM_024685.4(BBS10):c.923T>C (p.Leu308Ser)

SNV
Germline

Chr12:76347062

Likely pathogenic

Bardet-Biedl syndrome 10

Criteria Provided
Single Submitter

CA385813606

rs_2540956342

1 SubmittersRCV003140507

NM_033028.5(BBS4):c.1037-1G>A

SNV
Germline

Chr15:72735112

Likely pathogenic

Bardet-Biedl syndrome 4

Criteria Provided
Single Submitter

CA393079557

rs_2543008067

1 SubmittersRCV003140698

NM_012210.4(TRIM32):c.1584C>G (p.Tyr528Ter)

SNV
Germline

Chr9:116699326

Likely pathogenic

Condition: not provided
Bardet-Biedl syndrome 11
Sarcotubular myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA374651997

rs_2491068460

2 SubmittersRCV003131765 RCV006709672

NM_015272.5(RPGRIP1L):c.46G>A (p.Asp16Asn)

SNV
Germline

Chr16:53700678

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA395926803

rs_1168346867

1 SubmittersRCV003222507

NM_001378454.1(ALMS1):c.4375C>T (p.Pro1459Ser)

SNV
Germline

Chr2:73450902

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA347278412

rs_2466101466

1 SubmittersRCV003222509

NM_001278293.3(ARL6):c.302G>T (p.Arg101Ile)

SNV
Germline

Chr3:97785002

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA353587324

rs_1434357322

1 SubmittersRCV003222514

NM_004758.4(TSPOAP1):c.1567C>T (p.Gln523Ter)

SNV
Unknown

Chr17:58319222

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA400374503

rs_2509220941

1 SubmittersRCV003222517

NM_152384.3(BBS5):c.164T>C (p.Leu55Ser)

SNV
Germline

Chr2:169487090

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA349161055

rs_2468036514

1 SubmittersRCV003222518

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_198428.3(BBS9):c.1195C>T (p.Gln399Ter)

SNV
Germline

Chr7:33336619

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA367254835

rs_762425767

1 SubmittersRCV003222527

NM_025114.4(CEP290):c.2992-1G>T

SNV
Germline

Chr12:88097000

Likely pathogenic

CEP290-related disorder
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA386007291

rs_2037480294

2 SubmittersRCV003226856 RCV005003038

NM_198428.3(BBS9):c.886+7A>G

SNV
Germline

Chr7:33273202

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 9
Bardet-Biedl syndrome
BBS9-related disorder

Criteria Provided
Conflicting Classifications

CA4214128

rs_781169371

3 SubmittersRCV003228669 RCV003633696 RCV004747278

NM_031885.5(BBS2):c.1528G>T (p.Val510Phe)

SNV
Germline

Chr16:56498568

Likely pathogenic

Bardet-Biedl syndrome 1

No Assertion Criteria Provided

CA395977227

rs_766098919

1 SubmittersRCV003229562

NM_024685.4(BBS10):c.924G>T (p.Leu308Phe)

SNV
Germline

Chr12:76347061

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 10
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA385813599

rs_2540956341

3 SubmittersRCV003326727 RCV004690397

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_020347.4(LZTFL1):c.253C>T (p.Arg85Ter)

SNV
Germline

Chr3:45835660

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 17
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA352453739

rs_1374806070

3 SubmittersRCV003315150 RCV005061262

NM_025114.4(CEP290):c.5824C>T (p.Gln1942Ter)

SNV
Germline

Chr12:88071812

Pathogenic

Condition: not provided
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA6711636

rs_763345078

4 SubmittersRCV003318184 RCV003466054 RCV005870136 RCV006561410

NM_144596.4(TTC8):c.114+1G>T

SNV
Germline

Chr14:88824822

Pathogenic

Bardet-Biedl syndrome 8

No Assertion Criteria Provided

CA390568053

rs_1347407994

1 SubmittersRCV003324644

NM_025114.4(CEP290):c.3574-2A>G

SNV
Germline

Chr12:88089489

Likely pathogenic

Condition: not provided
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA386001425

rs_2500121943

3 SubmittersRCV003327795 RCV003777371 RCV004572932

NM_024685.4(BBS10):c.1956C>G (p.Tyr652Ter)

SNV
Germline

Chr12:76346029

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA385808798

rs_1951754581

2 SubmittersRCV003331595

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_198428.3(BBS9):c.703-1G>C

SNV
Germline

Chr7:33273011

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA367253864

rs_1800087042

1 SubmittersRCV003388406

NM_198428.3(BBS9):c.1329+1738C>T

SNV
Germline

Chr7:33346372

Likely pathogenic

BBS9-related disorder
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA156727864

rs_932364060

2 SubmittersRCV003408298 RCV003778252

NM_170784.3(MKKS):c.1148G>A (p.Trp383Ter)

SNV
Germline

Chr20:10408641

Pathogenic/Likely pathogenic

MKKS-related disorder
McKusick-Kaufman syndrome
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA408231556

rs_2514490293

2 SubmittersRCV004539001 RCV005216081

NM_006642.5(SDCCAG8):c.862C>T (p.Gln288Ter)

SNV
Germline

Chr1:243308110

Pathogenic

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16
SDCCAG8-related disorder

Criteria Provided
Single Submitter

CA345479223

rs_766435425

2 SubmittersRCV003778259 RCV004529261

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_170784.3(MKKS):c.221T>G (p.Leu74Ter)

SNV
Germline

Chr20:10413294

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 6
McKusick-Kaufman syndrome
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA408233583

rs_2514497550

2 SubmittersRCV003470114 RCV005216116

NM_170784.3(MKKS):c.668C>A (p.Ser223Ter)

SNV
Unknown

Chr20:10412847

Likely pathogenic

Bardet-Biedl syndrome 6

Criteria Provided
Single Submitter

CA408232603

rs_1463587370

1 SubmittersRCV003476466

NM_170784.3(MKKS):c.61A>T (p.Arg21Ter)

SNV
Unknown

Chr20:10413454

Likely pathogenic

Bardet-Biedl syndrome 6

Criteria Provided
Single Submitter

CA408233909

rs_372096815

1 SubmittersRCV003476469

NM_170784.3(MKKS):c.1434G>A (p.Trp478Ter)

SNV
Germline

Chr20:10405526

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 6
McKusick-Kaufman syndrome
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA408230907

rs_1398715312

2 SubmittersRCV003476471 RCV003779057

NM_170784.3(MKKS):c.1486C>T (p.Gln496Ter)

SNV
Unknown

Chr20:10405474

Likely pathogenic

Bardet-Biedl syndrome 6

Criteria Provided
Single Submitter

CA408230794

rs_2064836017

1 SubmittersRCV003476472

NM_170784.3(MKKS):c.619C>T (p.Gln207Ter)

SNV
Unknown

Chr20:10412896

Likely pathogenic

Bardet-Biedl syndrome 6

Criteria Provided
Single Submitter

CA408232707

rs_2514496343

1 SubmittersRCV003476477

NM_170784.3(MKKS):c.182C>G (p.Ser61Ter)

SNV
Unknown

Chr20:10413333

Likely pathogenic

Bardet-Biedl syndrome 6

Criteria Provided
Single Submitter

CA408233664

rs_771934394

1 SubmittersRCV003476478

NM_170784.3(MKKS):c.871G>T (p.Val291Phe)

SNV
Unknown

Chr20:10412644

Likely pathogenic

Bardet-Biedl syndrome 6

Criteria Provided
Single Submitter

CA408232176

rs_910468710

1 SubmittersRCV003476480

NM_017777.4(MKS1):c.1165+2T>C

SNV
Unknown

Chr17:58208103

Likely pathogenic

Bardet-Biedl syndrome 13

Criteria Provided
Single Submitter

CA400325606

rs_2509413057

1 SubmittersRCV003476485

NM_017777.4(MKS1):c.259C>T (p.Gln87Ter)

SNV
Unknown

Chr17:58216668

Likely pathogenic

Bardet-Biedl syndrome 13

Criteria Provided
Single Submitter

CA400327687

rs_1269271727

1 SubmittersRCV003476488

NM_017777.4(MKS1):c.1501G>T (p.Glu501Ter)

SNV
Unknown

Chr17:58206370

Likely pathogenic

Bardet-Biedl syndrome 13

Criteria Provided
Single Submitter

CA400324579

rs_1355211474

1 SubmittersRCV003476489

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

SNV
Unknown

Chr11:66521377

Likely pathogenic

Bardet-Biedl syndrome 1
Thyroid cancer, nonmedullary, 1
Lung cancer
Familial cancer of breast

Criteria Provided
Single Submitter

CA6123507

rs_200335137

2 SubmittersRCV003465010 RCV005927729 RCV005927730 RCV005927728

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_024685.4(BBS10):c.899A>C (p.His300Pro)

SNV
Germline

Chr12:76347086

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 10
not specified

Criteria Provided
Conflicting Classifications

CA6694268

rs_775386507

3 SubmittersRCV003465025 RCV004701073

NM_024685.4(BBS10):c.484G>T (p.Glu162Ter)

SNV
Unknown

Chr12:76347501

Likely pathogenic

Bardet-Biedl syndrome 10

Criteria Provided
Single Submitter

CA385815092

rs_2540956816

1 SubmittersRCV003465026

NM_024685.4(BBS10):c.992T>C (p.Val331Ala)

SNV
Germline

Chr12:76346993

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 10
not specified

Criteria Provided
Conflicting Classifications

CA385813253

rs_2540956270

3 SubmittersRCV003474311 RCV004701074

NM_024685.4(BBS10):c.859C>T (p.Gln287Ter)

SNV
Unknown

Chr12:76347126

Likely pathogenic

Bardet-Biedl syndrome 10

Criteria Provided
Single Submitter

CA6694273

rs_764854821

1 SubmittersRCV003474314

NM_024685.4(BBS10):c.641T>A (p.Val214Glu)

SNV
Unknown

Chr12:76347344

Likely pathogenic

Bardet-Biedl syndrome 10

Criteria Provided
Single Submitter

CA385814727

rs_570935105

1 SubmittersRCV003474319

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_031885.5(BBS2):c.1944T>A (p.Tyr648Ter)

SNV
Unknown

Chr16:56485705

Likely pathogenic

Bardet-Biedl syndrome 2

Criteria Provided
Single Submitter

CA395973587

rs_1014315603

1 SubmittersRCV003465048

NM_031885.5(BBS2):c.653G>A (p.Gly218Asp)

SNV
Germline

Chr16:56506184

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

CA395983118

rs_1375309270

4 SubmittersRCV003465051 RCV005100252

NM_031885.5(BBS2):c.940+1G>A

SNV
Germline

Chr16:56502672

Likely pathogenic

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74

Criteria Provided
Multiple Submitters
No Conflicts

CA395981014

rs_2543713728

2 SubmittersRCV003465053 RCV005021985

NM_031885.5(BBS2):c.1594C>T (p.Gln532Ter)

SNV
Unknown

Chr16:56498502

Likely pathogenic

Bardet-Biedl syndrome 2

Criteria Provided
Single Submitter

CA395976743

rs_2144134780

1 SubmittersRCV003465055

NM_031885.5(BBS2):c.1027C>T (p.Gln343Ter)

SNV
Unknown

Chr16:56502370

Likely pathogenic

Bardet-Biedl syndrome 2

Criteria Provided
Single Submitter

CA395980587

rs_1337345059

1 SubmittersRCV003465056

NM_031885.5(BBS2):c.535-1G>A

SNV
Germline

Chr16:56510035

Likely pathogenic

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395984134

rs_2144177127

2 SubmittersRCV003465058 RCV003523199

NM_031885.5(BBS2):c.118-2A>C

SNV
Germline

Chr16:56514682

Likely pathogenic

Bardet-Biedl syndrome 2
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395986504

rs_2543742094

2 SubmittersRCV003465060 RCV003523200

NM_031885.5(BBS2):c.346-1G>C

SNV
Unknown

Chr16:56511285

Likely pathogenic

Bardet-Biedl syndrome 2

Criteria Provided
Single Submitter

CA8066065

rs_753845990

1 SubmittersRCV003465064

NM_031885.5(BBS2):c.941-1G>A

SNV
Unknown

Chr16:56502457

Likely pathogenic

Bardet-Biedl syndrome 2

Criteria Provided
Single Submitter

CA395980927

rs_777234811

1 SubmittersRCV003465065

NM_031885.5(BBS2):c.534+2T>C

SNV
Unknown

Chr16:56510857

Likely pathogenic

Bardet-Biedl syndrome 2

Criteria Provided
Single Submitter

CA395984139

rs_2543732096

1 SubmittersRCV003465066

NM_031885.5(BBS2):c.278T>A (p.Leu93Ter)

SNV
Unknown

Chr16:56514520

Likely pathogenic

Bardet-Biedl syndrome 2

Criteria Provided
Single Submitter

CA395985643

rs_2543741373

1 SubmittersRCV003465067

NM_033028.5(BBS4):c.1450+2T>C

SNV
Germline

Chr15:72736965

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 4

Criteria Provided
Conflicting Classifications

CA393081124

rs_2065938100

2 SubmittersRCV003465069

NM_033028.5(BBS4):c.405G>A (p.Trp135Ter)

SNV
Germline

Chr15:72716850

Likely pathogenic

Bardet-Biedl syndrome 4
BBS4-related disorder

Criteria Provided
Single Submitter

CA393077194

rs_2542954655

2 SubmittersRCV003465071 RCV004750380

NM_033028.5(BBS4):c.406G>T (p.Glu136Ter)

SNV
Germline

Chr15:72722794

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 4
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA393075607

rs_2542969236

2 SubmittersRCV003465073 RCV003633722

NM_033028.5(BBS4):c.295C>T (p.Gln99Ter)

SNV
Unknown

Chr15:72715365

Likely pathogenic

Bardet-Biedl syndrome 4

Criteria Provided
Single Submitter

CA393076826

rs_1389369745

1 SubmittersRCV003465074

NM_033028.5(BBS4):c.642+2T>G

SNV
Germline

Chr15:72727996

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 4
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA393077558

rs_1368727960

3 SubmittersRCV003465075 RCV003485951

NM_033028.5(BBS4):c.1185T>A (p.Tyr395Ter)

SNV
Unknown

Chr15:72735903

Likely pathogenic

Bardet-Biedl syndrome 4

Criteria Provided
Single Submitter

CA393080114

rs_1034973830

1 SubmittersRCV003465076

NM_033028.5(BBS4):c.1106+2T>C

SNV
Unknown

Chr15:72735184

Likely pathogenic

Bardet-Biedl syndrome 4

Criteria Provided
Single Submitter

CA393079704

rs_886041464

1 SubmittersRCV003465077

NM_033028.5(BBS4):c.55C>T (p.Gln19Ter)

SNV
Germline

Chr15:72695207

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 4
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA393075548

rs_2542892124

2 SubmittersRCV003465078 RCV003523201

NM_033028.5(BBS4):c.95T>A (p.Leu32Ter)

SNV
Unknown

Chr15:72709718

Likely pathogenic

Bardet-Biedl syndrome 4

Criteria Provided
Single Submitter

CA393075784

rs_2542931853

1 SubmittersRCV003465085

NM_033028.5(BBS4):c.864+1G>A

SNV
Germline

Chr15:72731458

Likely pathogenic

Bardet-Biedl syndrome 4
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA393078709

rs_2151047618

3 SubmittersRCV003465086 RCV003633723

NM_033028.5(BBS4):c.1118T>A (p.Leu373Ter)

SNV
Unknown

Chr15:72735836

Likely pathogenic

Bardet-Biedl syndrome 4

Criteria Provided
Single Submitter

CA393079972

rs_1261627387

1 SubmittersRCV003465089

NM_033028.5(BBS4):c.31C>T (p.Gln11Ter)

SNV
Germline

Chr15:72695183

Pathogenic

Bardet-Biedl syndrome 4
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA393075497

rs_1040144478

2 SubmittersRCV003465091 RCV003633724

NM_033028.5(BBS4):c.103C>T (p.Gln35Ter)

SNV
Germline

Chr15:72709726

Likely pathogenic

Bardet-Biedl syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA393075806

rs_2542931886

2 SubmittersRCV003465092

NM_033028.5(BBS4):c.1037-2A>G

SNV
Unknown

Chr15:72735111

Likely pathogenic

Bardet-Biedl syndrome 4

Criteria Provided
Single Submitter

CA393079555

rs_2543008060

1 SubmittersRCV003465093

NM_033028.5(BBS4):c.1106+1G>A

SNV
Unknown

Chr15:72735183

Likely pathogenic

Bardet-Biedl syndrome 4

Criteria Provided
Single Submitter

CA393079703

rs_2543008537

1 SubmittersRCV003465094

NM_033028.5(BBS4):c.1308G>A (p.Trp436Ter)

SNV
Unknown

Chr15:72736821

Likely pathogenic

Bardet-Biedl syndrome 4

Criteria Provided
Single Submitter

CA393080592

rs_2543016391

1 SubmittersRCV003465095

NM_176824.3(BBS7):c.1677-2A>G

SNV
Germline

Chr4:121828730

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 7
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA358056262

rs_1253789424

2 SubmittersRCV003465102 RCV003523204

NM_176824.3(BBS7):c.1443T>A (p.Cys481Ter)

SNV
Unknown

Chr4:121835212

Pathogenic

Bardet-Biedl syndrome 7

Criteria Provided
Single Submitter

CA358058685

rs_2476456461

1 SubmittersRCV003465103

NM_176824.3(BBS7):c.849+1G>A

SNV
Unknown

Chr4:121852955

Likely pathogenic

Bardet-Biedl syndrome 7

Criteria Provided
Single Submitter

CA358064044

rs_763719688

1 SubmittersRCV003465104

NM_176824.3(BBS7):c.420T>G (p.Tyr140Ter)

SNV
Germline

Chr4:121859100

Likely pathogenic

Bardet-Biedl syndrome 7

Criteria Provided
Multiple Submitters
No Conflicts

CA3064512

rs_779596692

2 SubmittersRCV003465106

NM_176824.3(BBS7):c.932C>G (p.Ser311Ter)

SNV
Unknown

Chr4:121848846

Likely pathogenic

Bardet-Biedl syndrome 7

Criteria Provided
Single Submitter

CA358063350

rs_2476509596

1 SubmittersRCV003465107

NM_176824.3(BBS7):c.718+1G>C

SNV
Unknown

Chr4:121854703

Likely pathogenic

Bardet-Biedl syndrome 7

Criteria Provided
Single Submitter

CA358065520

rs_187517894

1 SubmittersRCV003465109

NM_176824.3(BBS7):c.1846C>T (p.Gln616Ter)

SNV
Germline

Chr4:121828446

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 7
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA358055011

rs_1725011800

2 SubmittersRCV003465113 RCV003523205

NM_176824.3(BBS7):c.97C>T (p.Gln33Ter)

SNV
Unknown

Chr4:121867986

Likely pathogenic

Bardet-Biedl syndrome 7

Criteria Provided
Single Submitter

CA358045903

rs_2476633187

1 SubmittersRCV003465115

NM_176824.3(BBS7):c.1072C>T (p.Gln358Ter)

SNV
Germline

Chr4:121845662

Likely pathogenic

Bardet-Biedl syndrome 7

Criteria Provided
Multiple Submitters
No Conflicts

CA3064321

rs_768257998

2 SubmittersRCV003465117

NM_176824.3(BBS7):c.1201C>T (p.Gln401Ter)

SNV
Unknown

Chr4:121845533

Likely pathogenic

Bardet-Biedl syndrome 7

Criteria Provided
Single Submitter

CA358061917

rs_765109765

1 SubmittersRCV003465118

NM_176824.3(BBS7):c.341+2T>C

SNV
Unknown

Chr4:121861502

Likely pathogenic

Bardet-Biedl syndrome 7
Gastric cancer

Criteria Provided
Single Submitter

CA358044073

rs_2476562375

2 SubmittersRCV003465119 RCV005927731

NM_176824.3(BBS7):c.719-2A>G

SNV
Unknown

Chr4:121853088

Likely pathogenic

Bardet-Biedl syndrome 7

Criteria Provided
Single Submitter

CA358064771

rs_2476523833

1 SubmittersRCV003465120

NM_176824.3(BBS7):c.790G>T (p.Gly264Ter)

SNV
Unknown

Chr4:121853015

Likely pathogenic

Bardet-Biedl syndrome 7

Criteria Provided
Single Submitter

CA358064379

rs_932897330

1 SubmittersRCV003465122

NM_198428.3(BBS9):c.1193C>G (p.Ser398Ter)

SNV
Unknown

Chr7:33336617

Likely pathogenic

Bardet-Biedl syndrome 9

Criteria Provided
Single Submitter

CA367254828

rs_1815419592

1 SubmittersRCV003465128

NM_198428.3(BBS9):c.1960G>T (p.Glu654Ter)

SNV
Unknown

Chr7:33383836

Likely pathogenic

Bardet-Biedl syndrome 9

Criteria Provided
Single Submitter

CA367253554

rs_1006435630

1 SubmittersRCV003465131

NM_198428.3(BBS9):c.2116-2A>T

SNV
Unknown

Chr7:33505461

Likely pathogenic

Bardet-Biedl syndrome 9

Criteria Provided
Single Submitter

CA367255671

rs_2537394538

1 SubmittersRCV003465132

NM_198428.3(BBS9):c.1432+2T>G

SNV
Unknown

Chr7:33349172

Likely pathogenic

Bardet-Biedl syndrome 9

Criteria Provided
Single Submitter

CA367255668

rs_2535994640

1 SubmittersRCV003465134

NM_198428.3(BBS9):c.1694-2A>G

SNV
Unknown

Chr7:33367765

Likely pathogenic

Bardet-Biedl syndrome 9

Criteria Provided
Single Submitter

CA4214473

rs_780417929

1 SubmittersRCV003465135

NM_198428.3(BBS9):c.1869T>G (p.Tyr623Ter)

SNV
Unknown

Chr7:33383745

Likely pathogenic

Bardet-Biedl syndrome 9

Criteria Provided
Single Submitter

CA367253244

rs_2536327415

1 SubmittersRCV003465137

NM_198428.3(BBS9):c.1789+1G>C

SNV
Germline

Chr7:33367863

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 9
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA4214490

rs_201938124

4 SubmittersRCV003465139 RCV003523206

NM_198428.3(BBS9):c.1927C>T (p.Gln643Ter)

SNV
Unknown

Chr7:33383803

Likely pathogenic

Bardet-Biedl syndrome 9

Criteria Provided
Single Submitter

CA367253380

rs_2536328379

1 SubmittersRCV003465140

NM_198428.3(BBS9):c.196G>T (p.Glu66Ter)

SNV
Germline

Chr7:33152784

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 9
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA4213898

rs_773577974

3 SubmittersRCV003465141 RCV005062969

NM_198428.3(BBS9):c.1963-1G>T

SNV
Unknown

Chr7:33387991

Likely pathogenic

Bardet-Biedl syndrome 9

Criteria Provided
Single Submitter

CA367253673

rs_2536368699

1 SubmittersRCV003465142

NM_198428.3(BBS9):c.496C>T (p.Gln166Ter)

SNV
Unknown

Chr7:33257289

Likely pathogenic

Bardet-Biedl syndrome 9

Criteria Provided
Single Submitter

CA367252798

rs_1204664319

1 SubmittersRCV003465143

NM_198428.3(BBS9):c.1275+1G>A

SNV
Unknown

Chr7:33340974

Likely pathogenic

Bardet-Biedl syndrome 9

Criteria Provided
Single Submitter

CA367255301

rs_2535915961

1 SubmittersRCV003465144

NM_198428.3(BBS9):c.793G>T (p.Glu265Ter)

SNV
Unknown

Chr7:33273102

Likely pathogenic

Bardet-Biedl syndrome 9

Criteria Provided
Single Submitter

CA367254301

rs_2535203638

1 SubmittersRCV003465145

NM_198428.3(BBS9):c.2299-2A>C

SNV
Germline

Chr7:33533952

Likely pathogenic

Bardet-Biedl syndrome 9
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA367256674

rs_1251539456

2 SubmittersRCV003465148 RCV003523207

NM_025114.4(CEP290):c.1039A>T (p.Lys347Ter)

SNV
Germline

Chr12:88126342

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 14
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA385982705

rs_1411950710

3 SubmittersRCV003460391 RCV003779151 RCV006643002

NM_025114.4(CEP290):c.6152C>G (p.Ser2051Ter)

SNV
Unknown

Chr12:88064099

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

CA385979990

rs_2499620387

1 SubmittersRCV003466678

NM_025114.4(CEP290):c.3310-1G>A

SNV
Germline

Chr12:88092833

Pathogenic

Bardet-Biedl syndrome 14
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA6712163

rs_369935020

2 SubmittersRCV003466679 RCV004818353

NM_025114.4(CEP290):c.7024C>T (p.Gln2342Ter)

SNV
Germline

Chr12:88054350

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 14
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA385975425

rs_2499444300

2 SubmittersRCV003466681 RCV006561692

NM_025114.4(CEP290):c.3739C>T (p.Gln1247Ter)

SNV
Germline

Chr12:88089322

Likely pathogenic

Bardet-Biedl syndrome 14
Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Leber congenital amaurosis 10
Senior-Loken syndrome 6

Criteria Provided
Multiple Submitters
No Conflicts

CA6712094

rs_758878983

2 SubmittersRCV003466685 RCV005012981

NM_025114.4(CEP290):c.4943C>G (p.Ser1648Ter)

SNV
Germline

Chr12:88083100

Likely pathogenic

Bardet-Biedl syndrome 14
Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Leber congenital amaurosis 10
Senior-Loken syndrome 6

Criteria Provided
Multiple Submitters
No Conflicts

CA385992803

rs_2499957266

2 SubmittersRCV003466687 RCV005012982

NM_025114.4(CEP290):c.6226A>T (p.Lys2076Ter)

SNV
Unknown

Chr12:88064025

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

CA385979648

rs_2499618420

1 SubmittersRCV003466689

NM_025114.4(CEP290):c.1171G>T (p.Glu391Ter)

SNV
Unknown

Chr12:88125264

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

CA385981111

rs_2501271113

1 SubmittersRCV003466691

NM_025114.4(CEP290):c.2144T>G (p.Leu715Ter)

SNV
Germline

Chr12:88111767

Pathogenic

Bardet-Biedl syndrome 14
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA385975083

rs_1231122388

3 SubmittersRCV003466697 RCV003779152 RCV006643003

NM_025114.4(CEP290):c.5012+2T>G

SNV
Unknown

Chr12:88083029

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

CA385992633

rs_1369768287

1 SubmittersRCV003466698

NM_025114.4(CEP290):c.7209+1G>A

SNV
Germline

Chr12:88050353

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 14
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA385973593

rs_1420974027

2 SubmittersRCV003466700 RCV003779153

NM_025114.4(CEP290):c.5011C>T (p.Gln1671Ter)

SNV
Germline

Chr12:88083032

Pathogenic

Bardet-Biedl syndrome 14
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA385992644

rs_1219855028

2 SubmittersRCV003466705 RCV006643004

NM_025114.4(CEP290):c.6325G>T (p.Glu2109Ter)

SNV
Unknown

Chr12:88062724

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

CA385979184

rs_2499596186

1 SubmittersRCV003466706

NM_025114.4(CEP290):c.5794A>T (p.Lys1932Ter)

SNV
Unknown

Chr12:88071842

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

CA385984750

rs_2499742387

1 SubmittersRCV003466709

NM_025114.4(CEP290):c.2586+1G>A

SNV
Unknown

Chr12:88106995

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

CA385971700

rs_2500627365

1 SubmittersRCV003466710

NM_025114.4(CEP290):c.7256C>G (p.Ser2419Ter)

SNV
Unknown

Chr12:88049368

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

CA385973088

rs_2136547201

1 SubmittersRCV003466711

NM_025114.4(CEP290):c.2478C>G (p.Tyr826Ter)

SNV
Unknown

Chr12:88109071

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

CA6712328

rs_758193337

1 SubmittersRCV003466715

NM_025114.4(CEP290):c.3736G>T (p.Glu1246Ter)

SNV
Germline

Chr12:88089325

Likely pathogenic

Bardet-Biedl syndrome 14
Joubert syndrome 5
Bardet-Biedl syndrome 14
Meckel syndrome, type 4
Leber congenital amaurosis 10
Senior-Loken syndrome 6

Criteria Provided
Multiple Submitters
No Conflicts

CA386000812

rs_2500112760

2 SubmittersRCV003466716 RCV005003647

NM_025114.4(CEP290):c.3418G>T (p.Glu1140Ter)

SNV
Germline

Chr12:88092724

Pathogenic

Bardet-Biedl syndrome 14
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA386004066

rs_766095901

2 SubmittersRCV003466717 RCV005216120

NM_025114.4(CEP290):c.4897C>T (p.Gln1633Ter)

SNV
Germline

Chr12:88083146

Pathogenic

Bardet-Biedl syndrome 14
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA385992903

rs_1159120623

2 SubmittersRCV003466718 RCV003779155

NM_025114.4(CEP290):c.2218-2A>G

SNV
Unknown

Chr12:88111353

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

CA385974761

rs_2500746572

1 SubmittersRCV003466719

NM_025114.4(CEP290):c.3200T>G (p.Leu1067Ter)

SNV
Unknown

Chr12:88093879

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

CA386006206

rs_757210438

1 SubmittersRCV003466723

NM_025114.4(CEP290):c.1824+1G>A

SNV
Germline

Chr12:88117032

Likely pathogenic

Bardet-Biedl syndrome 14
CEP290-related disorder

Criteria Provided
Single Submitter

CA385977943

rs_2500865783

2 SubmittersRCV003466727 RCV004733620

NM_025114.4(CEP290):c.5722G>T (p.Glu1908Ter)

SNV
Unknown

Chr12:88071914

Pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

CA385985279

rs_2499745769

1 SubmittersRCV003466728

NM_025114.4(CEP290):c.2992-1G>A

SNV
Unknown

Chr12:88097000

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

CA386007288

rs_2037480294

1 SubmittersRCV003466733

NM_025114.4(CEP290):c.1909+1G>T

SNV
Germline

Chr12:88115097

Likely pathogenic

Bardet-Biedl syndrome 14
Retinal dystrophy

Criteria Provided
Single Submitter

CA241149826

rs_1006843385

2 SubmittersRCV003466735 RCV004818354

NM_025114.4(CEP290):c.2217+2T>G

SNV
Unknown

Chr12:88111692

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

CA385974762

rs_2038702746

1 SubmittersRCV003466736

NM_025114.4(CEP290):c.6270+1G>T

SNV
Germline

Chr12:88063980

Likely pathogenic

Bardet-Biedl syndrome 14
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA385979508

rs_1237799214

2 SubmittersRCV003466737 RCV003779156

NM_025114.4(CEP290):c.5855+2T>G

SNV
Unknown

Chr12:88071779

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

CA385984280

rs_2499739840

1 SubmittersRCV003466739

NM_025114.4(CEP290):c.5012+1G>A

SNV
Unknown

Chr12:88083030

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

CA385992638

rs_2499954741

1 SubmittersRCV003466741

NM_025114.4(CEP290):c.2569A>T (p.Lys857Ter)

SNV
Germline

Chr12:88107013

Pathogenic

Bardet-Biedl syndrome 14
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome, type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA385971769

rs_1168542133

3 SubmittersRCV003466742 RCV003779157 RCV005003648

NM_025114.4(CEP290):c.5855+1G>A

SNV
Unknown

Chr12:88071780

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

CA385984293

rs_1476248618

1 SubmittersRCV003466744

NM_025114.4(CEP290):c.4879G>T (p.Glu1627Ter)

SNV
Germline

Chr12:88083164

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 14
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA241156795

rs_868148490

2 SubmittersRCV003466746 RCV003779158

NM_025114.4(CEP290):c.3187G>T (p.Glu1063Ter)

SNV
Unknown

Chr12:88093892

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

CA386006270

rs_1397256061

1 SubmittersRCV003466748

NM_025114.4(CEP290):c.1495G>T (p.Glu499Ter)

SNV
Unknown

Chr12:88120141

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

CA385979748

rs_2501038652

1 SubmittersRCV003466749

NM_025114.4(CEP290):c.2991+1G>A

SNV
Unknown

Chr12:88102837

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

CA385968871

rs_2500522460

1 SubmittersRCV003466754

NM_025114.4(CEP290):c.3988G>T (p.Glu1330Ter)

SNV
Germline

Chr12:88089073

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 14
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA386000189

rs_1285349002

2 SubmittersRCV003466759 RCV003779160

NM_025114.4(CEP290):c.1657A>T (p.Lys553Ter)

SNV
Unknown

Chr12:88118537

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

CA385978956

rs_77818876

1 SubmittersRCV003466760

NM_025114.4(CEP290):c.584T>G (p.Leu195Ter)

SNV
Unknown

Chr12:88130353

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

CA385986347

rs_2501502246

1 SubmittersRCV003466762

NM_025114.4(CEP290):c.180+1G>T

SNV
Unknown

Chr12:88140955

Pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

CA385989722

rs_758593134

1 SubmittersRCV003466768

NM_170784.3(MKKS):c.1530G>A (p.Trp510Ter)

SNV
Germline

Chr20:10405430

Likely pathogenic

Condition: not provided
McKusick-Kaufman syndrome
Bardet-Biedl syndrome
MKKS-related disorder
McKusick-Kaufman syndrome
Bardet-Biedl syndrome 6

Criteria Provided
Multiple Submitters
No Conflicts

CA9763461

rs_777446581

4 SubmittersRCV003480349 RCV003779214 RCV004736340 RCV005036831

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_033028.5(BBS4):c.346A>T (p.Lys116Ter)

SNV
Germline

Chr15:72716791

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA393076980

rs_1195131327

1 SubmittersRCV003523956

NM_198428.3(BBS9):c.1433-2A>G

SNV
Germline

Chr7:33351217

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA367255855

rs_2536015460

1 SubmittersRCV003523930

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_033028.5(BBS4):c.332+1G>T

SNV
Germline

Chr15:72715403

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA393076910

rs_2542950527

1 SubmittersRCV003523212

NM_176824.3(BBS7):c.166-2A>G

SNV
Germline

Chr4:121861681

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA358044967

rs_2476567319

1 SubmittersRCV003524322

NM_198428.3(BBS9):c.687T>G (p.Ser229=)

SNV
Germline

Chr7:33264359

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
BBS9-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA454457184

rs_2535096128

3 SubmittersRCV003522228 RCV004747310 RCV006434541

NM_176824.3(BBS7):c.502C>T (p.Gln168Ter)

SNV
Germline

Chr4:121859018

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA358042802

rs_1385873554

1 SubmittersRCV003522216

NM_176824.3(BBS7):c.1488A>G (p.Arg496=)

SNV
Germline

Chr4:121835167

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 7

Criteria Provided
Conflicting Classifications

CA440921215

rs_1484511643

2 SubmittersRCV003522146 RCV005030085

NM_031885.5(BBS2):c.1527+2T>G

SNV
Germline

Chr16:56499776

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA395977477

rs_2543704184

1 SubmittersRCV003522246

NM_176824.3(BBS7):c.690G>A (p.Trp230Ter)

SNV
Germline

Chr4:121854732

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 7

Criteria Provided
Multiple Submitters
No Conflicts

CA3064433

rs_377194859

2 SubmittersRCV003522382 RCV004574075

NM_144596.4(TTC8):c.112C>T (p.Gln38Ter)

SNV
Germline

Chr14:88824819

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA390568037

rs_2546126719

1 SubmittersRCV003522538

NM_152384.3(BBS5):c.58C>T (p.Gln20Ter)

SNV
Germline

Chr2:169479611

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA1956082

rs_772852905

1 SubmittersRCV003524867

NM_198428.3(BBS9):c.702+1G>T

SNV
Germline

Chr7:33264375

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA367253661

rs_2128325966

1 SubmittersRCV003525140

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

SNV
Germline

Chr11:66523488

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381461421

rs_2495776917

2 SubmittersRCV003525327 RCV006686044

NM_024685.4(BBS10):c.968C>T (p.Ala323Val)

SNV
Germline

Chr12:76347017

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA385813351

rs_2540956288

1 SubmittersRCV003525334

NM_198428.3(BBS9):c.1027G>T (p.Gly343Ter)

SNV
Germline

Chr7:33336451

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA367254029

rs_2535876276

1 SubmittersRCV003523407

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_152384.3(BBS5):c.259-1G>A

SNV
Germline

Chr2:169487986

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA349161756

rs_2468037280

1 SubmittersRCV003523702

NM_176824.3(BBS7):c.1042G>T (p.Glu348Ter)

SNV
Germline

Chr4:121845692

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA358062801

rs_2476496988

1 SubmittersRCV003524464

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_031885.5(BBS2):c.1822C>T (p.Gln608Ter)

SNV
Germline

Chr16:56497055

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Retinitis pigmentosa 40

Criteria Provided
Multiple Submitters
No Conflicts

CA395975637

rs_2543695558

2 SubmittersRCV003524732 RCV006698521

NM_198428.3(BBS9):c.703-2A>G

SNV
Germline

Chr7:33273010

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA367253860

rs_2535201698

1 SubmittersRCV003523819

NM_033028.5(BBS4):c.435C>A (p.Tyr145Ter)

SNV
Germline

Chr15:72722823

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA393075673

rs_1379874365

1 SubmittersRCV003524571

NM_031885.5(BBS2):c.118-1G>T

SNV
Germline

Chr16:56514681

Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA395986499

rs_587777825

2 SubmittersRCV003524758 RCV006643101

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_012210.4(TRIM32):c.921G>A (p.Trp307Ter)

SNV
Germline

Chr9:116698663

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA374650365

rs_2491063429

1 SubmittersRCV003524381

NM_198428.3(BBS9):c.408C>A (p.Cys136Ter)

SNV
Germline

Chr7:33177557

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA367251947

rs_2535613423

1 SubmittersRCV003524843

NM_031885.5(BBS2):c.775G>T (p.Glu259Ter)

SNV
Germline

Chr16:56505979

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA395982649

rs_2543720655

1 SubmittersRCV003522714

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_012210.4(TRIM32):c.920G>A (p.Trp307Ter)

SNV
Germline

Chr9:116698662

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA374650360

rs_2491063414

1 SubmittersRCV003522747

NM_031885.5(BBS2):c.345+1G>A

SNV
Germline

Chr16:56514452

Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74

Criteria Provided
Multiple Submitters
No Conflicts

CA8066079

rs_771700269

2 SubmittersRCV003522912 RCV005014819

NM_024685.4(BBS10):c.415C>T (p.Gln139Ter)

SNV
Germline

Chr12:76347570

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA385815305

rs_2540956950

1 SubmittersRCV003522913

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_012210.4(TRIM32):c.1505C>G (p.Ser502Ter)

SNV
Germline

Chr9:116699247

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA374651831

rs_1221660946

1 SubmittersRCV003633849

NM_033028.5(BBS4):c.459+1G>A

SNV
Germline

Chr15:72722848

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA393075731

rs_1377618677

1 SubmittersRCV003633920

NM_176824.3(BBS7):c.423C>A (p.Tyr141Ter)

SNV
Germline

Chr4:121859097

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA358043166

rs_2476548653

1 SubmittersRCV003633969

NM_012210.4(TRIM32):c.763G>T (p.Glu255Ter)

SNV
Germline

Chr9:116698505

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA374649713

rs_2491062333

1 SubmittersRCV003634550

NM_176824.3(BBS7):c.1453C>T (p.Gln485Ter)

SNV
Germline

Chr4:121835202

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA358058646

rs_2476456347

1 SubmittersRCV003634621

NM_024685.4(BBS10):c.197G>A (p.Arg66Lys)

SNV
Germline

Chr12:76348162

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA385816048

rs_1291192594

1 SubmittersRCV003634527

NM_198428.3(BBS9):c.2521+1G>T

SNV
Germline

Chr7:33534177

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA367257163

rs_1310284141

1 SubmittersRCV003634595

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_176824.3(BBS7):c.1897C>T (p.Gln633Ter)

SNV
Germline

Chr4:121828263

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA358054562

rs_2476801952

1 SubmittersRCV003634774

NM_024685.4(BBS10):c.1619T>G (p.Leu540Ter)

SNV
Germline

Chr12:76346366

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA385810778

rs_2540955443

1 SubmittersRCV003635071

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_176824.3(BBS7):c.1786+2T>C

SNV
Germline

Chr4:121828617

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA358055493

rs_2476803278

1 SubmittersRCV003634968

NM_144596.4(TTC8):c.799-1G>T

SNV
Germline

Chr14:88861221

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA390546575

rs_2546212330

1 SubmittersRCV003634996

NM_033028.5(BBS4):c.157-1G>T

SNV
Germline

Chr15:72712243

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA393075967

rs_2542940265

1 SubmittersRCV003635128

NM_033028.5(BBS4):c.24+2T>G

SNV
Germline

Chr15:72686253

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA393075086

rs_2542861731

1 SubmittersRCV003635251

NM_031885.5(BBS2):c.1767T>G (p.Tyr589Ter)

SNV
Germline

Chr16:56497773

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA395975840

rs_2543698295

1 SubmittersRCV003633018

NM_024685.4(BBS10):c.692C>G (p.Ser231Ter)

SNV
Germline

Chr12:76347293

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA385814621

rs_2540956551

1 SubmittersRCV003633076

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

SNV
Germline

Chr11:66529929

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381424082

rs_1416464603

2 SubmittersRCV003633127 RCV006643183

NM_152384.3(BBS5):c.681+1G>T

SNV
Germline

Chr2:169497690

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA349166581

rs_2105300442

2 SubmittersRCV003633189 RCV005030207

NM_198428.3(BBS9):c.1624A>T (p.Lys542Ter)

SNV
Germline

Chr7:33357926

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA367252177

rs_1417640176

1 SubmittersRCV003633216

NM_152384.3(BBS5):c.60-2A>C

SNV
Germline

Chr2:169482249

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA1956100

rs_769851369

1 SubmittersRCV003633319

NM_176824.3(BBS7):c.1305+1G>A

SNV
Germline

Chr4:121843926

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA358061245

rs_2476490203

1 SubmittersRCV003633422

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_012210.4(TRIM32):c.826C>T (p.Gln276Ter)

SNV
Germline

Chr9:116698568

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA374649952

rs_1228615020

1 SubmittersRCV003634158

NM_024685.4(BBS10):c.816A>G (p.Gly272=)

SNV
Germline

Chr12:76347169

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 10

Criteria Provided
Conflicting Classifications

CA481011482

rs_2540956436

2 SubmittersRCV003634003 RCV005013145

NM_015910.7(WDPCP):c.1360G>T (p.Glu454Ter)

SNV
Germline

Chr2:63404123

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA1682249

rs_763507671

1 SubmittersRCV003634229

NM_198428.3(BBS9):c.27G>A (p.Trp9Ter)

SNV
Germline

Chr7:33146279

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

CA367189191

rs_770310531

1 SubmittersRCV003634396

NM_198428.3(BBS9):c.2297T>A (p.Leu766Ter)

SNV
Germline

Chr7:33505644

Pathogenic

Bardet-Biedl syndrome 9

No Assertion Criteria Provided

1 SubmittersRCV004691595

NM_001278293.3(ARL6):c.214G>C (p.Gly72Arg)

SNV
Germline

Chr3:97780643

Likely pathogenic

Bardet-Biedl syndrome 3

No Assertion Criteria Provided

1 SubmittersRCV004691637

NM_001278293.3(ARL6):c.377T>G (p.Leu126Ter)

SNV
Germline

Chr3:97788017

Pathogenic

Bardet-Biedl syndrome 3

No Assertion Criteria Provided

1 SubmittersRCV004691638

NM_031885.5(BBS2):c.509A>G (p.Asp170Gly)

SNV
Germline

Chr16:56510884

Likely pathogenic

Bardet-Biedl syndrome 2

No Assertion Criteria Provided

1 SubmittersRCV004691639

NM_176824.3(BBS7):c.529-2A>G

SNV
Germline

Chr4:121855563

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 7

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV004598276

NM_170784.3(MKKS):c.2T>A (p.Met1Lys)

SNV
Germline

Chr20:10413513

Pathogenic

Bardet-Biedl syndrome
McKusick-Kaufman syndrome

Criteria Provided
Single Submitter

CA408234034

rs_2514498517

1 SubmittersRCV003785881

NM_170784.3(MKKS):c.2T>G (p.Met1Arg)

SNV
Germline

Chr20:10413513

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
McKusick-Kaufman syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA408234032

rs_2514498517

2 SubmittersRCV003783739 RCV005603845

NM_015662.3(IFT172):c.1459C>T (p.Arg487Cys)

SNV
Germline

Chr2:27472315

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
IFT172-related disorder
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71

Criteria Provided
Conflicting Classifications

CA1580641

rs_143520040

3 SubmittersRCV003783208 RCV004554328 RCV005014951

NM_025114.4(CEP290):c.3309+16T>G

SNV
Germline

Chr12:88093754

Conflicting classifications of pathogenicity

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4

Criteria Provided
Conflicting Classifications

CA606675736

rs_1400483491

2 SubmittersRCV003781036 RCV005013180

NM_025114.4(CEP290):c.4990G>T (p.Glu1664Ter)

SNV
Germline

Chr12:88083053

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385992693

rs_2499955544

2 SubmittersRCV003793188 RCV004573319

NM_025114.4(CEP290):c.2052+1G>A

SNV
Germline

Chr12:88114419

Pathogenic/Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14
Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA385976715

rs_2038915208

4 SubmittersRCV003793380 RCV004573320 RCV005003714 RCV006643236

NM_025114.4(CEP290):c.1360-1G>C

SNV
Germline

Chr12:88120277

Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA385980285

rs_2501054131

2 SubmittersRCV003779392 RCV005003707

NM_025114.4(CEP290):c.2258C>A (p.Ser753Ter)

SNV
Germline

Chr12:88111311

Pathogenic/Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA385974663

rs_2500744133

2 SubmittersRCV003780009 RCV004796843

NM_015662.3(IFT172):c.3229-9G>T

SNV
Germline

Chr2:27456662

Conflicting classifications of pathogenicity

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20

Criteria Provided
Conflicting Classifications

CA1580038

rs_775776080

2 SubmittersRCV003780399 RCV005030264

NM_025114.4(CEP290):c.669+15A>G

SNV
Germline

Chr12:88130253

Conflicting classifications of pathogenicity

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4

Criteria Provided
Conflicting Classifications

CA606454199

rs_1165909730

2 SubmittersRCV003789091 RCV005003709

NM_170784.3(MKKS):c.257C>A (p.Ser86Ter)

SNV
Germline

Chr20:10413258

Pathogenic/Likely pathogenic

McKusick-Kaufman syndrome
Bardet-Biedl syndrome
Bardet-Biedl syndrome 6

Criteria Provided
Multiple Submitters
No Conflicts

CA9763716

rs_762258242

2 SubmittersRCV003789234 RCV004573311

NM_025114.4(CEP290):c.298-15G>A

SNV
Germline

Chr12:88136801

Conflicting classifications of pathogenicity

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4

Criteria Provided
Conflicting Classifications

CA6712837

rs_756197493

2 SubmittersRCV003787834 RCV005013178

NM_015662.3(IFT172):c.1411+2T>C

SNV
Germline

Chr2:27476639

Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71

Criteria Provided
Multiple Submitters
No Conflicts

CA346392657

rs_2465979379

2 SubmittersRCV003786745 RCV005030266

NM_025114.4(CEP290):c.6522+18G>C

SNV
Germline

Chr12:88060812

Conflicting classifications of pathogenicity

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4

Criteria Provided
Conflicting Classifications

CA606675628

rs_1359522025

2 SubmittersRCV003786965 RCV005003710

NM_001278293.3(ARL6):c.228C>A (p.Tyr76Ter)

SNV
Germline

Chr3:97780657

Pathogenic

Retinitis pigmentosa 55
Bardet-Biedl syndrome 3

Criteria Provided
Single Submitter

CA353586183

rs_2037147164

1 SubmittersRCV003792133

NM_025114.4(CEP290):c.1790T>A (p.Leu597Ter)

SNV
Germline

Chr12:88117067

Pathogenic/Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA385978111

rs_2500867184

2 SubmittersRCV003808415 RCV005003719

NM_025114.4(CEP290):c.3577C>T (p.Gln1193Ter)

SNV
Germline

Chr12:88089484

Pathogenic/Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA386001394

rs_2500121621

2 SubmittersRCV003791609 RCV005013192

NM_025114.4(CEP290):c.2194C>T (p.Gln732Ter)

SNV
Germline

Chr12:88111717

Pathogenic/Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA385974857

rs_1438792443

2 SubmittersRCV003805604 RCV005013194

NM_025114.4(CEP290):c.516+1G>A

SNV
Germline

Chr12:88130544

Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Meckel syndrome, type 4
CEP290-related disorder
Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA6712765

rs_779409629

4 SubmittersRCV003805876 RCV005407255 RCV004733652 RCV005003718

NM_025114.4(CEP290):c.441+1G>A

SNV
Germline

Chr12:88136642

Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA385987068

rs_1184012636

2 SubmittersRCV003799241 RCV005003716

NM_001278293.3(ARL6):c.123+1G>A

SNV
Germline

Chr3:97768231

Likely pathogenic

Bardet-Biedl syndrome 3
Retinitis pigmentosa 55

Criteria Provided
Single Submitter

CA353582837

rs_1195519595

1 SubmittersRCV003803380

NM_025114.4(CEP290):c.297+1G>C

SNV
Germline

Chr12:88139144

Pathogenic/Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385988566

rs_878853360

2 SubmittersRCV003803606 RCV004573329

NM_025114.4(CEP290):c.5754G>A (p.Trp1918Ter)

SNV
Germline

Chr12:88071882

Pathogenic/Likely pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA385985036

rs_2499744201

3 SubmittersRCV003801218 RCV005013196 RCV005616803

NM_025114.4(CEP290):c.1163T>A (p.Leu388Ter)

SNV
Germline

Chr12:88125272

Pathogenic

Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Bardet-Biedl syndrome 14

Criteria Provided
Multiple Submitters
No Conflicts

CA385981152

rs_2501272074

2 SubmittersRCV003796931 RCV004573326

NM_001278293.3(ARL6):c.188T>A (p.Leu63Ter)

SNV
Germline

Chr3:97780617

Pathogenic

Bardet-Biedl syndrome 3
Retinitis pigmentosa 55

Criteria Provided
Single Submitter

CA353585947

rs_2529895361

1 SubmittersRCV003800281

NM_001278293.3(ARL6):c.252T>G (p.Tyr84Ter)

SNV
Germline

Chr3:97780681

Pathogenic

Bardet-Biedl syndrome 3
Retinitis pigmentosa 55

Criteria Provided
Single Submitter

CA353586338

rs_2529896796

1 SubmittersRCV003810119

NM_001278293.3(ARL6):c.254+1G>A

SNV
Germline

Chr3:97780684

Likely pathogenic

Retinitis pigmentosa 55
Bardet-Biedl syndrome 3

Criteria Provided
Single Submitter

CA353586361

rs_2529896839

1 SubmittersRCV003817760

NM_001278293.3(ARL6):c.66C>A (p.Cys22Ter)

SNV
Germline

Chr3:97768173

Pathogenic

Bardet-Biedl syndrome 3
Retinitis pigmentosa 55

Criteria Provided
Single Submitter

CA353582374

rs_2529766743

1 SubmittersRCV003810040

NM_017777.4(MKS1):c.1166-11C>T

SNV
Germline

Chr17:58208012

Conflicting classifications of pathogenicity

Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 28
Meckel syndrome, type 1
Bardet-Biedl syndrome 13

Criteria Provided
Conflicting Classifications

CA627143022

rs_1291753612

2 SubmittersRCV003807484 RCV005014977

NM_006642.5(SDCCAG8):c.787C>T (p.Gln263Ter)

SNV
Germline

Chr1:243308035

Pathogenic

Bardet-Biedl syndrome 16
Senior-Loken syndrome 7

Criteria Provided
Single Submitter

CA345479059

rs_2547885939

1 SubmittersRCV003812502

NM_152384.3(BBS5):c.855A>G (p.Gln285=)

SNV
Germline

Chr2:169503133

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 5

Criteria Provided
Conflicting Classifications

CA429925650

rs_2468048552

2 SubmittersRCV003835112 RCV005030313

NM_198428.3(BBS9):c.1323G>A (p.Thr441=)

SNV
Germline

Chr7:33344628

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 9

Criteria Provided
Conflicting Classifications

CA156727709

rs_1044033927

2 SubmittersRCV003845898 RCV005038569

NM_198428.3(BBS9):c.1099C>T (p.Gln367Ter)

SNV
Germline

Chr7:33336523

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 9

Criteria Provided
Multiple Submitters
No Conflicts

CA156726914

rs_377289479

2 SubmittersRCV003854084 RCV004573364

NM_152384.3(BBS5):c.1A>T (p.Met1Leu)

SNV
Germline

Chr2:169479554

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA1956064

rs_536117380

2 SubmittersRCV003876021 RCV003988160

NM_176824.3(BBS7):c.688T>C (p.Trp230Arg)

SNV
Germline

Chr4:121854734

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA358065773

rs_1173134997

2 SubmittersRCV003874553

NM_031885.5(BBS2):c.941-2A>G

SNV
Germline

Chr16:56502458

Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA281481254

rs_878962682

2 SubmittersRCV003872695 RCV004573374

NM_015662.3(IFT172):c.1969G>A (p.Ala657Thr)

SNV
Germline

Chr2:27463150

Conflicting classifications of pathogenicity

Retinal dystrophy
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Bardet-Biedl syndrome 20

Criteria Provided
Conflicting Classifications

CA346385340

rs_190366845

2 SubmittersRCV003890665 RCV005015084

NM_176824.3(BBS7):c.602-2A>T

SNV
Germline

Chr4:121854822

Pathogenic

Bardet-Biedl syndrome 7

Criteria Provided
Single Submitter

CA358066313

rs_2476529741

1 SubmittersRCV004515792

NM_198428.3(BBS9):c.1553-1G>A

SNV
Germline

Chr7:33357854

Likely pathogenic

Bardet-Biedl syndrome 9

Criteria Provided
Single Submitter

CA367252030

rs_2536074802

1 SubmittersRCV003988672

NM_006642.5(SDCCAG8):c.420+1G>A

SNV
Germline

Chr1:243274657

Likely pathogenic

Bardet-Biedl syndrome 16

Criteria Provided
Single Submitter

CA345477117

rs_959585740

1 SubmittersRCV003990904

NM_031885.5(BBS2):c.118-2A>G

SNV
Germline

Chr16:56514682

Likely pathogenic

Bardet-Biedl syndrome 2
Retinitis pigmentosa 74
Bardet-Biedl syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA395986503

rs_2543742094

2 SubmittersRCV003991772 RCV005015113

NM_176824.3(BBS7):c.338C>A (p.Ala113Asp)

SNV
Germline

Chr4:121861507

Pathogenic

Bardet-Biedl syndrome 7

No Assertion Criteria Provided

1 SubmittersRCV004759353

NM_176824.3(BBS7):c.341+1G>A

SNV
Germline

Chr4:121861503

Likely pathogenic

Bardet-Biedl syndrome 7

No Assertion Criteria Provided

1 SubmittersRCV004759354

NM_144596.4(TTC8):c.1252C>T (p.Gln418Ter)

SNV
Germline

Chr14:88872357

Pathogenic

Bardet-Biedl syndrome 8

Criteria Provided
Single Submitter

CA390552883

rs_2094937970

1 SubmittersRCV004017210

NM_031885.5(BBS2):c.650T>G (p.Phe217Cys)

SNV
Germline

Chr16:56506187

Likely pathogenic

Bardet-Biedl syndrome 2

Criteria Provided
Single Submitter

CA395983134

rs_2543721403

1 SubmittersRCV004017214

NM_020347.4(LZTFL1):c.505A>T (p.Lys169Ter)

SNV
Germline

Chr3:45831090

Pathogenic

Bardet-Biedl syndrome 17

No Assertion Criteria Provided

CA352450351

rs_2529764469

1 SubmittersRCV004527271

NM_015910.7(WDPCP):c.720C>A (p.Cys240Ter)

SNV
Germline

Chr2:63433850

Pathogenic

Bardet-Biedl syndrome 15

No Assertion Criteria Provided

CA347062610

rs_2466930630

1 SubmittersRCV004527273

NM_176824.3(BBS7):c.1886T>A (p.Leu629Ter)

SNV
Germline

Chr4:121828406

Pathogenic

Bardet-Biedl syndrome 7

Criteria Provided
Single Submitter

rs_2476802503

1 SubmittersRCV004566386

NM_198428.3(BBS9):c.2014C>T (p.Gln672Ter)

SNV
Germline

Chr7:33388043

Pathogenic

Bardet-Biedl syndrome 9
Early onset severe obesity

Criteria Provided
Multiple Submitters
No Conflicts

CA367253787

rs_2536369263

2 SubmittersRCV004555770 RCV006631129

NM_144596.4(TTC8):c.739C>T (p.Gln247Ter)

SNV
Germline

Chr14:88857218

Pathogenic/Likely pathogenic

Retinitis pigmentosa 51
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2094860666

2 SubmittersRCV004573799 RCV005101916

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_024685.4(BBS10):c.103C>T (p.Gln35Ter)

SNV
Unknown

Chr12:76348256

Likely pathogenic

Bardet-Biedl syndrome 10

Criteria Provided
Single Submitter

rs_2540957802

1 SubmittersRCV004573996

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_031885.5(BBS2):c.1225+2T>G

SNV
Germline

Chr16:56501351

Likely pathogenic

Bardet-Biedl syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_1279981768

2 SubmittersRCV004574011

NM_031885.5(BBS2):c.1910+1G>A

SNV
Unknown

Chr16:56496966

Likely pathogenic

Bardet-Biedl syndrome 2

Criteria Provided
Single Submitter

rs_757391646

1 SubmittersRCV004574012

NM_031885.5(BBS2):c.612+1G>A

SNV
Germline

Chr16:56509956

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_1964531402

2 SubmittersRCV004574013

NM_031885.5(BBS2):c.1163C>G (p.Ser388Ter)

SNV
Germline

Chr16:56501415

Likely pathogenic

Bardet-Biedl syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_745820842

2 SubmittersRCV004574016

NM_031885.5(BBS2):c.791G>A (p.Trp264Ter)

SNV
Unknown

Chr16:56505963

Likely pathogenic

Bardet-Biedl syndrome 2

Criteria Provided
Single Submitter

rs_767449884

1 SubmittersRCV004574018

NM_033028.5(BBS4):c.1249-2A>C

SNV
Germline

Chr15:72736760

Likely pathogenic

Bardet-Biedl syndrome 4
BBS4-related disorder
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2065932114

3 SubmittersRCV004574023 RCV004750477 RCV006488975

NM_033028.5(BBS4):c.460-2A>T

SNV
Unknown

Chr15:72724526

Likely pathogenic

Bardet-Biedl syndrome 4

Criteria Provided
Single Submitter

rs_2542973522

1 SubmittersRCV004574025

NM_033028.5(BBS4):c.1159G>T (p.Glu387Ter)

SNV
Germline

Chr15:72735877

Likely pathogenic

Bardet-Biedl syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_778082012

2 SubmittersRCV004575384

NM_176824.3(BBS7):c.601+2T>C

SNV
Unknown

Chr4:121855487

Likely pathogenic

Bardet-Biedl syndrome 7

Criteria Provided
Single Submitter

rs_72680775

1 SubmittersRCV004575387

NM_176824.3(BBS7):c.602-1G>A

SNV
Unknown

Chr4:121854821

Likely pathogenic

Bardet-Biedl syndrome 7

Criteria Provided
Single Submitter

rs_2476529732

1 SubmittersRCV004575388

NM_198428.3(BBS9):c.2349C>A (p.Cys783Ter)

SNV
Unknown

Chr7:33534004

Pathogenic

Bardet-Biedl syndrome 9

Criteria Provided
Single Submitter

rs_2537669686

1 SubmittersRCV004575390

NM_198428.3(BBS9):c.1720C>T (p.Gln574Ter)

SNV
Unknown

Chr7:33367793

Likely pathogenic

Bardet-Biedl syndrome 9

Criteria Provided
Single Submitter

rs_2536170537

1 SubmittersRCV004575394

NM_198428.3(BBS9):c.1705C>T (p.Gln569Ter)

SNV
Unknown

Chr7:33367778

Likely pathogenic

Bardet-Biedl syndrome 9

Criteria Provided
Single Submitter

rs_2536170302

1 SubmittersRCV004575395

NM_198428.3(BBS9):c.703-1G>A

SNV
Germline

Chr7:33273011

Likely pathogenic

Bardet-Biedl syndrome 9
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1800087042

2 SubmittersRCV004575396 RCV005101920

NM_198428.3(BBS9):c.1790-2A>T

SNV
Unknown

Chr7:33383664

Likely pathogenic

Bardet-Biedl syndrome 9

Criteria Provided
Single Submitter

rs_2536326179

1 SubmittersRCV004575397

NM_025114.4(CEP290):c.6337A>T (p.Lys2113Ter)

SNV
Unknown

Chr12:88062712

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

rs_2499595696

1 SubmittersRCV004575572

NM_025114.4(CEP290):c.619C>T (p.Gln207Ter)

SNV
Unknown

Chr12:88130318

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

rs_2501499274

1 SubmittersRCV004575574

NM_025114.4(CEP290):c.1588C>T (p.Gln530Ter)

SNV
Unknown

Chr12:88118678

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

rs_2500956859

1 SubmittersRCV004575575

NM_025114.4(CEP290):c.2367+1G>A

SNV
Unknown

Chr12:88111201

Likely pathogenic

Bardet-Biedl syndrome 14
See cases

Criteria Provided
Multiple Submitters
No Conflicts

rs_2500736926

2 SubmittersRCV004575576 RCV005939491

NM_025114.4(CEP290):c.7165G>T (p.Glu2389Ter)

SNV
Unknown

Chr12:88050398

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

rs_2499368392

1 SubmittersRCV004575579

NM_025114.4(CEP290):c.5402T>A (p.Leu1801Ter)

SNV
Unknown

Chr12:88077881

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

rs_2035898709

1 SubmittersRCV004575581

NM_025114.4(CEP290):c.844C>T (p.Gln282Ter)

SNV
Unknown

Chr12:88129702

Pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

rs_2501463457

1 SubmittersRCV004575582

NM_025114.4(CEP290):c.3462-2A>G

SNV
Unknown

Chr12:88090841

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

rs_1223217246

1 SubmittersRCV004575584

NM_025114.4(CEP290):c.5856-1G>T

SNV
Unknown

Chr12:88071450

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

rs_2499731886

1 SubmittersRCV004575586

NM_025114.4(CEP290):c.7240G>T (p.Glu2414Ter)

SNV
Unknown

Chr12:88049384

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

rs_1233939358

1 SubmittersRCV004575589

NM_025114.4(CEP290):c.3461+2T>G

SNV
Unknown

Chr12:88092679

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

rs_779865400

1 SubmittersRCV004575590

NM_025114.4(CEP290):c.3664G>T (p.Glu1222Ter)

SNV
Unknown

Chr12:88089397

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

rs_770015278

1 SubmittersRCV004575592

NM_025114.4(CEP290):c.3461+1G>C

SNV
Unknown

Chr12:88092680

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

rs_766952056

1 SubmittersRCV004575593

NM_025114.4(CEP290):c.7003C>T (p.Gln2335Ter)

SNV
Unknown

Chr12:88054371

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

rs_1474521702

1 SubmittersRCV004575594

NM_025114.4(CEP290):c.7035-1G>T

SNV
Unknown

Chr12:88053747

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

rs_2499429479

1 SubmittersRCV004575595

NM_025114.4(CEP290):c.3016C>T (p.Gln1006Ter)

SNV
Unknown

Chr12:88096975

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

rs_1201691161

1 SubmittersRCV004575601

NM_025114.4(CEP290):c.1360-2A>C

SNV
Unknown

Chr12:88120278

Likely pathogenic

Bardet-Biedl syndrome 14

Criteria Provided
Single Submitter

rs_2501054222

1 SubmittersRCV004575614

NM_170784.3(MKKS):c.1192C>T (p.Gln398Ter)

SNV
Unknown

Chr20:10407696

Pathogenic

Bardet-Biedl syndrome 6

Criteria Provided
Single Submitter

rs_2514489090

1 SubmittersRCV004574858

NM_170784.3(MKKS):c.883A>T (p.Lys295Ter)

SNV
Unknown

Chr20:10412632

Likely pathogenic

Bardet-Biedl syndrome 6

Criteria Provided
Single Submitter

rs_2514495508

1 SubmittersRCV004574861

NM_170784.3(MKKS):c.1470G>A (p.Trp490Ter)

SNV
Unknown

Chr20:10405490

Likely pathogenic

Bardet-Biedl syndrome 6

Criteria Provided
Single Submitter

rs_2122219766

1 SubmittersRCV004574862

NM_170784.3(MKKS):c.844C>T (p.Gln282Ter)

SNV
Unknown

Chr20:10412671

Likely pathogenic

Bardet-Biedl syndrome 6

Criteria Provided
Single Submitter

rs_2514495654

1 SubmittersRCV004574863

NM_170784.3(MKKS):c.1529G>A (p.Trp510Ter)

SNV
Unknown

Chr20:10405431

Likely pathogenic

Bardet-Biedl syndrome 6

Criteria Provided
Single Submitter

rs_2514486688

1 SubmittersRCV004574865

NM_017777.4(MKS1):c.1029G>A (p.Trp343Ter)

SNV
Unknown

Chr17:58208579

Likely pathogenic

Bardet-Biedl syndrome 13

Criteria Provided
Single Submitter

rs_2509416820

1 SubmittersRCV004574866

NM_017777.4(MKS1):c.18G>A (p.Trp6Ter)

SNV
Unknown

Chr17:58219213

Likely pathogenic

Bardet-Biedl syndrome 13

Criteria Provided
Single Submitter

rs_980185244

1 SubmittersRCV004574867

NM_017777.4(MKS1):c.91C>T (p.Gln31Ter)

SNV
Unknown

Chr17:58218719

Likely pathogenic

Bardet-Biedl syndrome 13

Criteria Provided
Single Submitter

rs_1214897554

1 SubmittersRCV004574869

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_170784.3(MKKS):c.848T>C (p.Leu283Pro)

SNV
Germline

Chr20:10412667

Likely pathogenic

Bardet-Biedl syndrome 6

No Assertion Criteria Provided

rs_2514495642

1 SubmittersRCV004586463

NM_025114.4(CEP290):c.5364+1G>A

SNV
Germline

Chr12:88079091

Likely pathogenic

Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Senior-Loken syndrome 6
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV004596667 RCV005006455 RCV006637121

NM_024685.4(BBS10):c.146G>T (p.Arg49Leu)

SNV
Germline

Chr12:76348213

Likely pathogenic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 10

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004690898 RCV005006492

NM_024685.4(BBS10):c.686C>G (p.Pro229Arg)

SNV
Germline

Chr12:76347299

Conflicting classifications of pathogenicity

not specified
Bardet-Biedl syndrome 10

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004691015 RCV005003784

NM_170784.3(MKKS):c.518A>C (p.His173Pro)

SNV
Germline

Chr20:10412997

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004699760

NM_031885.5(BBS2):c.1911-2A>G

SNV
Germline

Chr16:56485740

Likely pathogenic

BBS2-related disorder
Bardet-Biedl syndrome

Criteria Provided
Single Submitter

2 SubmittersRCV004724365 RCV006474574

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_006642.5(SDCCAG8):c.511G>T (p.Glu171Ter)

SNV
Germline

Chr1:243286362

Pathogenic/Likely pathogenic

SDCCAG8-related disorder
Condition: not provided
Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV004735013 RCV004759448 RCV005221019

NM_031885.5(BBS2):c.273C>T (p.Ala91=)

SNV
Germline

Chr16:56514525

Conflicting classifications of pathogenicity

BBS2-related disorder
Bardet-Biedl syndrome 2

No Assertion Criteria Provided

2 SubmittersRCV004733787 RCV005610726

NM_198428.3(BBS9):c.113-1G>A

SNV
Germline

Chr7:33152700

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004776476

NM_144596.4(TTC8):c.489+1G>A

SNV
Germline

Chr14:88841197

Likely pathogenic

Bardet-Biedl syndrome 8

Criteria Provided
Single Submitter

1 SubmittersRCV004785814

NM_152384.3(BBS5):c.900+1G>A

SNV
Germline

Chr2:169503179

Likely pathogenic

Bardet-Biedl syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV004821027

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_033028.5(BBS4):c.156+1G>A

SNV
Germline

Chr15:72709780

Likely pathogenic

Bardet-Biedl syndrome 4

Criteria Provided
Single Submitter

1 SubmittersRCV005011893

NM_033028.5(BBS4):c.693T>G (p.Tyr231Ter)

SNV
Germline

Chr15:72729666

Likely pathogenic

Bardet-Biedl syndrome 4

Criteria Provided
Single Submitter

1 SubmittersRCV005003157

NM_033028.5(BBS4):c.864+2T>C

SNV
Germline

Chr15:72731459

Likely pathogenic

Bardet-Biedl syndrome 4
Thyroid cancer, nonmedullary, 1

Criteria Provided
Single Submitter

2 SubmittersRCV005003160 RCV005937609

NM_033028.5(BBS4):c.1352C>A (p.Ser451Ter)

SNV
Germline

Chr15:72736865

Likely pathogenic

Bardet-Biedl syndrome 4

Criteria Provided
Single Submitter

1 SubmittersRCV005003165

NM_031885.5(BBS2):c.472-2A>C

SNV
Germline

Chr16:56510923

Likely pathogenic

Bardet-Biedl syndrome 2
Retinitis pigmentosa 74

Criteria Provided
Single Submitter

1 SubmittersRCV005015641

NM_031885.5(BBS2):c.416G>A (p.Gly139Asp)

SNV
Germline

Chr16:56511214

Likely pathogenic

Bardet-Biedl syndrome 2
Retinitis pigmentosa 74

Criteria Provided
Single Submitter

1 SubmittersRCV005015643

NM_006642.5(SDCCAG8):c.307-1G>C

SNV
Germline

Chr1:243274542

Likely pathogenic

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Single Submitter

1 SubmittersRCV005023839

NM_006642.5(SDCCAG8):c.741-2A>G

SNV
Germline

Chr1:243307987

Likely pathogenic

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Single Submitter

1 SubmittersRCV005020626

NM_017777.4(MKS1):c.261+1G>T

SNV
Germline

Chr17:58216665

Likely pathogenic

Meckel syndrome, type 1
Joubert syndrome 28
Bardet-Biedl syndrome 13

Criteria Provided
Single Submitter

1 SubmittersRCV005023822

NM_017777.4(MKS1):c.191-1G>T

SNV
Germline

Chr17:58216737

Likely pathogenic

Meckel syndrome, type 1
Joubert syndrome 28
Bardet-Biedl syndrome 13

Criteria Provided
Single Submitter

1 SubmittersRCV005020534

NM_006642.5(SDCCAG8):c.930-2A>C

SNV
Germline

Chr1:243316753

Likely pathogenic

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Single Submitter

1 SubmittersRCV005023990

NM_006642.5(SDCCAG8):c.1357-2A>G

SNV
Germline

Chr1:243344213

Likely pathogenic

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Single Submitter

1 SubmittersRCV005022551

NM_006642.5(SDCCAG8):c.1618C>T (p.Gln540Ter)

SNV
Germline

Chr1:243415703

Likely pathogenic

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Single Submitter

1 SubmittersRCV005026031

NM_006642.5(SDCCAG8):c.1705C>T (p.Gln569Ter)

SNV
Germline

Chr1:243415790

Likely pathogenic

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Single Submitter

1 SubmittersRCV005026032

NM_024685.4(BBS10):c.1775C>A (p.Ser592Ter)

SNV
Germline

Chr12:76346210

Likely pathogenic

Bardet-Biedl syndrome 10

Criteria Provided
Single Submitter

1 SubmittersRCV005005352

NM_024685.4(BBS10):c.1646C>G (p.Ser549Ter)

SNV
Germline

Chr12:76346339

Likely pathogenic

Bardet-Biedl syndrome 10

Criteria Provided
Single Submitter

1 SubmittersRCV005011586

NM_024685.4(BBS10):c.1063C>T (p.Gln355Ter)

SNV
Germline

Chr12:76346922

Likely pathogenic

Bardet-Biedl syndrome 10

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005005362

NM_024685.4(BBS10):c.1009G>T (p.Glu337Ter)

SNV
Germline

Chr12:76346976

Likely pathogenic

Bardet-Biedl syndrome 10

Criteria Provided
Single Submitter

1 SubmittersRCV005011590

NM_024685.4(BBS10):c.877A>T (p.Lys293Ter)

SNV
Germline

Chr12:76347108

Likely pathogenic

Bardet-Biedl syndrome 10

Criteria Provided
Single Submitter

1 SubmittersRCV005011593

NM_025114.4(CEP290):c.6964A>T (p.Lys2322Ter)

SNV
Germline

Chr12:88054410

Pathogenic

Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4

Criteria Provided
Single Submitter

1 SubmittersRCV005005390

NM_025114.4(CEP290):c.6960+1G>A

SNV
Germline

Chr12:88055575

Likely pathogenic

Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4

Criteria Provided
Single Submitter

1 SubmittersRCV005011623

NM_025114.4(CEP290):c.6514A>T (p.Lys2172Ter)

SNV
Germline

Chr12:88060838

Likely pathogenic

Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4

Criteria Provided
Single Submitter

1 SubmittersRCV005005397

NM_025114.4(CEP290):c.6358-2A>C

SNV
Germline

Chr12:88060996

Likely pathogenic

Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4

Criteria Provided
Single Submitter

1 SubmittersRCV005011635

NM_025114.4(CEP290):c.6270+1G>A

SNV
Germline

Chr12:88063980

Likely pathogenic

Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4

Criteria Provided
Single Submitter

1 SubmittersRCV005005399

NM_025114.4(CEP290):c.5881C>T (p.Gln1961Ter)

SNV
Germline

Chr12:88071424

Likely pathogenic

Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4

Criteria Provided
Single Submitter

1 SubmittersRCV005005403

NM_025114.4(CEP290):c.5735G>A (p.Trp1912Ter)

SNV
Germline

Chr12:88071901

Likely pathogenic

Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4

Criteria Provided
Single Submitter

1 SubmittersRCV005005404

NM_025114.4(CEP290):c.5710-2A>G

SNV
Germline

Chr12:88071928

Likely pathogenic

Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4

Criteria Provided
Single Submitter

1 SubmittersRCV005005405

NM_025114.4(CEP290):c.5659C>T (p.Gln1887Ter)

SNV
Germline

Chr12:88077272

Pathogenic/Likely pathogenic

Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome
Nephronophthisis
Meckel-Gruber syndrome
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV005011643 RCV005218404 RCV006637176

NM_025114.4(CEP290):c.5125C>T (p.Gln1709Ter)

SNV
Germline

Chr12:88080283

Likely pathogenic

Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4

Criteria Provided
Single Submitter

1 SubmittersRCV005011646

NM_025114.4(CEP290):c.4957A>T (p.Arg1653Ter)

SNV
Germline

Chr12:88083086

Likely pathogenic

Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4

Criteria Provided
Single Submitter

1 SubmittersRCV005011651

NM_025114.4(CEP290):c.3589A>T (p.Lys1197Ter)

SNV
Germline

Chr12:88089472

Likely pathogenic

Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4

Criteria Provided
Single Submitter

1 SubmittersRCV005005424

NM_025114.4(CEP290):c.3200T>A (p.Leu1067Ter)

SNV
Germline

Chr12:88093879

Likely pathogenic

Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4

Criteria Provided
Single Submitter

1 SubmittersRCV005011670

NM_025114.4(CEP290):c.2719G>T (p.Glu907Ter)

SNV
Germline

Chr12:88106773

Likely pathogenic

Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4

Criteria Provided
Single Submitter

1 SubmittersRCV005011676

NM_025114.4(CEP290):c.2267C>A (p.Ser756Ter)

SNV
Germline

Chr12:88111302

Likely pathogenic

Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4

Criteria Provided
Single Submitter

1 SubmittersRCV005011682

NM_025114.4(CEP290):c.1711G>T (p.Gly571Ter)

SNV
Germline

Chr12:88118483

Likely pathogenic

Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4

Criteria Provided
Single Submitter

1 SubmittersRCV005011688

NM_025114.4(CEP290):c.1624-1G>C

SNV
Germline

Chr12:88118571

Likely pathogenic

Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4

Criteria Provided
Single Submitter

1 SubmittersRCV005005441

NM_025114.4(CEP290):c.566C>G (p.Ser189Ter)

SNV
Germline

Chr12:88130371

Pathogenic

Joubert syndrome 5
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Meckel syndrome, type 4

Criteria Provided
Single Submitter

1 SubmittersRCV005005453

NM_006642.5(SDCCAG8):c.1A>T (p.Met1Leu)

SNV
Germline

Chr1:243256174

Likely pathogenic

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Single Submitter

1 SubmittersRCV005020518

NM_006642.5(SDCCAG8):c.3G>A (p.Met1Ile)

SNV
Germline

Chr1:243256176

Likely pathogenic

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Single Submitter

1 SubmittersRCV005023811

NM_144596.4(TTC8):c.340C>T (p.Gln114Ter)

SNV
Germline

Chr14:88841047

Likely pathogenic

Bardet-Biedl syndrome 8
Retinitis pigmentosa 51

Criteria Provided
Single Submitter

1 SubmittersRCV005009358

NM_144596.4(TTC8):c.580-2A>G

SNV
Germline

Chr14:88843804

Likely pathogenic

Bardet-Biedl syndrome 8
Retinitis pigmentosa 51

Criteria Provided
Single Submitter

1 SubmittersRCV005009364

NM_144596.4(TTC8):c.798+1G>A

SNV
Germline

Chr14:88857278

Likely pathogenic

Bardet-Biedl syndrome 8
Retinitis pigmentosa 51

Criteria Provided
Single Submitter

1 SubmittersRCV005009368

NM_152384.3(BBS5):c.386+2T>C

SNV
Germline

Chr2:169488116

Likely pathogenic

Bardet-Biedl syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV005030547

NM_152384.3(BBS5):c.613C>T (p.Gln205Ter)

SNV
Germline

Chr2:169493831

Likely pathogenic

Bardet-Biedl syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV005030549

NM_015910.7(WDPCP):c.1600C>T (p.Gln534Ter)

SNV
Germline

Chr2:63381930

Likely pathogenic

Bardet-Biedl syndrome 15
Heart defect - tongue hamartoma - polysyndactyly syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005026686

NM_015910.7(WDPCP):c.1436-1G>A

SNV
Germline

Chr2:63382095

Likely pathogenic

Bardet-Biedl syndrome 15
Heart defect - tongue hamartoma - polysyndactyly syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005032375

NM_015910.7(WDPCP):c.3G>A (p.Met1Ile)

SNV
Germline

Chr2:63588269

Likely pathogenic

Bardet-Biedl syndrome 15
Heart defect - tongue hamartoma - polysyndactyly syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005026708

NM_015662.3(IFT172):c.4280G>A (p.Trp1427Ter)

SNV
Germline

Chr2:27449325

Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71

Criteria Provided
Single Submitter

1 SubmittersRCV005024416

NM_015662.3(IFT172):c.4224+1G>A

SNV
Germline

Chr2:27449498

Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71

Criteria Provided
Single Submitter

1 SubmittersRCV005024418

NM_015662.3(IFT172):c.3369T>C (p.Asn1123=)

SNV
Germline

Chr2:27456513

Conflicting classifications of pathogenicity

Retinitis pigmentosa 71
Bardet-Biedl syndrome 20
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005024432 RCV005223179

NM_015662.3(IFT172):c.2443-1G>C

SNV
Germline

Chr2:27461094

Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71

Criteria Provided
Single Submitter

1 SubmittersRCV005020922

NM_015662.3(IFT172):c.2251C>T (p.Gln751Ter)

SNV
Germline

Chr2:27461460

Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71

Criteria Provided
Single Submitter

1 SubmittersRCV005020927

NM_015662.3(IFT172):c.2212A>T (p.Lys738Ter)

SNV
Germline

Chr2:27461499

Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71

Criteria Provided
Single Submitter

1 SubmittersRCV005024444

NM_015662.3(IFT172):c.1846G>T (p.Glu616Ter)

SNV
Germline

Chr2:27465502

Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71

Criteria Provided
Single Submitter

1 SubmittersRCV005024445

NM_015662.3(IFT172):c.1692+1G>A

SNV
Germline

Chr2:27470927

Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71

Criteria Provided
Single Submitter

1 SubmittersRCV005020939

NM_015662.3(IFT172):c.1627C>T (p.Arg543Ter)

SNV
Germline

Chr2:27470993

Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71

Criteria Provided
Single Submitter

1 SubmittersRCV005020941

NM_015662.3(IFT172):c.1525-2A>G

SNV
Germline

Chr2:27471097

Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71

Criteria Provided
Single Submitter

1 SubmittersRCV005024449

NM_015662.3(IFT172):c.184-1G>A

SNV
Germline

Chr2:27485131

Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71

Criteria Provided
Single Submitter

1 SubmittersRCV005020962

NM_015662.3(IFT172):c.133G>T (p.Glu45Ter)

SNV
Germline

Chr2:27485410

Likely pathogenic

Short-rib thoracic dysplasia 10 with or without polydactyly
Bardet-Biedl syndrome 20
Retinitis pigmentosa 71

Criteria Provided
Single Submitter

1 SubmittersRCV005024462

NM_020347.4(LZTFL1):c.601-20C>T

SNV
Germline

Chr3:45828635

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 17
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005024621 RCV005112825

NM_020347.4(LZTFL1):c.523-1G>A

SNV
Germline

Chr3:45830991

Likely pathogenic

Bardet-Biedl syndrome 17

Criteria Provided
Single Submitter

1 SubmittersRCV005024623

NM_020347.4(LZTFL1):c.4-2A>G

SNV
Germline

Chr3:45838053

Likely pathogenic

Bardet-Biedl syndrome 17

Criteria Provided
Single Submitter

1 SubmittersRCV005024627

NM_198428.3(BBS9):c.1330-2A>G

SNV
Germline

Chr7:33349066

Likely pathogenic

Bardet-Biedl syndrome 9

Criteria Provided
Single Submitter

1 SubmittersRCV005033745

NM_198428.3(BBS9):c.1668A>G (p.Pro556=)

SNV
Germline

Chr7:33357970

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome 9
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005033753 RCV005105287

NM_170784.3(MKKS):c.1643G>A (p.Gly548Asp)

SNV
Germline

Chr20:10405317

Conflicting classifications of pathogenicity

McKusick-Kaufman syndrome
Bardet-Biedl syndrome 6
McKusick-Kaufman syndrome
Bardet-Biedl syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005032457 RCV006564263

NM_170784.3(MKKS):c.1273-1G>C

SNV
Germline

Chr20:10405688

Likely pathogenic

McKusick-Kaufman syndrome
Bardet-Biedl syndrome 6

Criteria Provided
Single Submitter

1 SubmittersRCV005026818

NM_001278293.3(ARL6):c.68T>C (p.Leu23Pro)

SNV
Germline

Chr3:97768175

Likely pathogenic

Retinitis pigmentosa 55
Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV005024897

NM_001278293.3(ARL6):c.480-2A>C

SNV
Germline

Chr3:97791769

Likely pathogenic

Retinitis pigmentosa 55
Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV005024901

NM_176824.3(BBS7):c.1845C>G (p.Tyr615Ter)

SNV
Germline

Chr4:121828447

Likely pathogenic

Bardet-Biedl syndrome 7

Criteria Provided
Single Submitter

1 SubmittersRCV005024966

NM_176824.3(BBS7):c.1102C>T (p.Gln368Ter)

SNV
Germline

Chr4:121845632

Likely pathogenic

Bardet-Biedl syndrome 7

Criteria Provided
Single Submitter

1 SubmittersRCV005024972

NM_176824.3(BBS7):c.935-2A>C

SNV
Germline

Chr4:121847508

Likely pathogenic

Bardet-Biedl syndrome 7

Criteria Provided
Single Submitter

1 SubmittersRCV005037288

NM_176824.3(BBS7):c.906T>A (p.Tyr302Ter)

SNV
Germline

Chr4:121848872

Likely pathogenic

Bardet-Biedl syndrome 7

Criteria Provided
Single Submitter

1 SubmittersRCV005024974

NM_176824.3(BBS7):c.187G>C (p.Gly63Arg)

SNV
Germline

Chr4:121861658

Likely pathogenic

Bardet-Biedl syndrome 7

Criteria Provided
Single Submitter

1 SubmittersRCV005037291

NM_176824.3(BBS7):c.165+2T>G

SNV
Germline

Chr4:121863215

Likely pathogenic

Bardet-Biedl syndrome 7

Criteria Provided
Single Submitter

1 SubmittersRCV005037293

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_198428.3(BBS9):c.1810G>T (p.Glu604Ter)

SNV
Germline

Chr7:33383686

Likely pathogenic

Bardet-Biedl syndrome 9

Criteria Provided
Single Submitter

1 SubmittersRCV005047929

NM_198428.3(BBS9):c.1990G>T (p.Glu664Ter)

SNV
Germline

Chr7:33388019

Likely pathogenic

Bardet-Biedl syndrome 9

Criteria Provided
Single Submitter

1 SubmittersRCV005047930

NM_198428.3(BBS9):c.2029C>T (p.Gln677Ter)

SNV
Germline

Chr7:33388058

Likely pathogenic

Bardet-Biedl syndrome 9

Criteria Provided
Single Submitter

1 SubmittersRCV005033757

NM_198428.3(BBS9):c.2222G>A (p.Trp741Ter)

SNV
Germline

Chr7:33505569

Likely pathogenic

Bardet-Biedl syndrome 9

Criteria Provided
Single Submitter

1 SubmittersRCV005047931

NM_198428.3(BBS9):c.2303G>A (p.Trp768Ter)

SNV
Germline

Chr7:33533958

Likely pathogenic

Bardet-Biedl syndrome 9

Criteria Provided
Single Submitter

1 SubmittersRCV005033763

NM_198428.3(BBS9):c.2522-1G>A

SNV
Germline

Chr7:33604864

Likely pathogenic

Bardet-Biedl syndrome 9

Criteria Provided
Single Submitter

1 SubmittersRCV005047935

NM_198428.3(BBS9):c.2564C>G (p.Ser855Ter)

SNV
Germline

Chr7:33604907

Likely pathogenic

Bardet-Biedl syndrome 9

Criteria Provided
Single Submitter

1 SubmittersRCV005033775

NM_012210.4(TRIM32):c.430G>T (p.Glu144Ter)

SNV
Germline

Chr9:116698172

Likely pathogenic

Sarcotubular myopathy
Bardet-Biedl syndrome 11

Criteria Provided
Single Submitter

1 SubmittersRCV006717949

NM_012210.4(TRIM32):c.1481G>A (p.Trp494Ter)

SNV
Germline

Chr9:116699223

Likely pathogenic

Sarcotubular myopathy
Bardet-Biedl syndrome 11

Criteria Provided
Single Submitter

1 SubmittersRCV006717965

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_033028.5(BBS4):c.76+1G>A

SNV
Germline

Chr15:72695229

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005075277

NM_015910.7(WDPCP):c.826-1G>A

SNV
Germline

Chr2:63404658

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005083895

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

SNV
Germline

Chr11:66511240

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005115082

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

SNV
Germline

Chr4:122742530

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005122849

NM_176824.3(BBS7):c.341+1G>T

SNV
Germline

Chr4:121861503

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005120190

NM_176824.3(BBS7):c.1891G>T (p.Glu631Ter)

SNV
Germline

Chr4:121828269

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005121521

NM_198428.3(BBS9):c.89T>A (p.Val30Asp)

SNV
Germline

Chr7:33146341

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005119617

NM_033028.5(BBS4):c.1185T>G (p.Tyr395Ter)

SNV
Germline

Chr15:72735903

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005117306

NM_024685.4(BBS10):c.5T>G (p.Leu2Ter)

SNV
Germline

Chr12:76348354

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005116520

NM_033028.5(BBS4):c.912G>A (p.Trp304Ter)

SNV
Germline

Chr15:72731602

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005125515

NM_152384.3(BBS5):c.808G>T (p.Glu270Ter)

SNV
Germline

Chr2:169499612

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005143008

NM_015910.7(WDPCP):c.634-1G>A

SNV
Germline

Chr2:63433937

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005134393

NM_144596.4(TTC8):c.264A>G (p.Pro88=)

SNV
Germline

Chr14:88839571

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005137784 RCV006734902

NM_144596.4(TTC8):c.153G>A (p.Trp51Ter)

SNV
Germline

Chr14:88839460

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005159682

NM_152384.3(BBS5):c.623C>G (p.Ser208Ter)

SNV
Germline

Chr2:169497631

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005162539

NM_012210.4(TRIM32):c.1498C>T (p.Arg500Ter)

SNV
Germline

Chr9:116699240

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005176138

NM_031885.5(BBS2):c.23T>C (p.Leu8Pro)

SNV
Germline

Chr16:56519840

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005185040

NM_144596.4(TTC8):c.680G>A (p.Trp227Ter)

SNV
Germline

Chr14:88853026

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005202095

NM_152384.3(BBS5):c.2T>C (p.Met1Thr)

SNV
Germline

Chr2:169479555

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005186764

NM_033028.5(BBS4):c.77-2A>G

SNV
Germline

Chr15:72709698

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005207966

NM_170784.3(MKKS):c.13G>T (p.Glu5Ter)

SNV
Germline

Chr20:10413502

Pathogenic

McKusick-Kaufman syndrome
Bardet-Biedl syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005211236

NM_006642.5(SDCCAG8):c.1068+1G>T

SNV
Germline

Chr1:243316894

Pathogenic

Bardet-Biedl syndrome 16
Senior-Loken syndrome 7

Criteria Provided
Single Submitter

1 SubmittersRCV005223515

NM_170784.3(MKKS):c.1196T>G (p.Leu399Ter)

SNV
Germline

Chr20:10407692

Pathogenic

McKusick-Kaufman syndrome
Bardet-Biedl syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005217506

NM_006642.5(SDCCAG8):c.676-2A>G

SNV
Germline

Chr1:243304711

Likely pathogenic

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Single Submitter

1 SubmittersRCV005215347

NM_015910.7(WDPCP):c.256C>T (p.Arg86Ter)

SNV
Germline

Chr2:63484985

Likely pathogenic

Bardet-Biedl syndrome 15
Heart defect - tongue hamartoma - polysyndactyly syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005233154

NM_198428.3(BBS9):c.2419C>T (p.Gln807Ter)

SNV
Germline

Chr7:33534074

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005236917

NM_198428.3(BBS9):c.1199-1G>A

SNV
Germline

Chr7:33340896

Likely pathogenic

Bardet-Biedl syndrome 9

Criteria Provided
Single Submitter

1 SubmittersRCV005407482

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

SNV
Germline

Chr11:66523484

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005408302

NM_170784.3(MKKS):c.1186G>T (p.Val396Phe)

SNV
Germline

Chr20:10407702

Pathogenic/Likely pathogenic

Condition: not provided
Bardet-Biedl syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005425270 RCV006691330

NM_170784.3(MKKS):c.1171C>T (p.Gln391Ter)

SNV
Germline

Chr20:10407717

Pathogenic/Likely pathogenic

Condition: not provided
Bardet-Biedl syndrome
McKusick-Kaufman syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005604670 RCV006568347

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

SNV
Germline

Chr11:66531029

Likely pathogenic

Bardet-Biedl syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV005614974

NM_024685.4(BBS10):c.184C>T (p.His62Tyr)

SNV
Germline

Chr12:76348175

Likely pathogenic

Bardet-Biedl syndrome 10

Criteria Provided
Single Submitter

1 SubmittersRCV005614988

NM_024685.4(BBS10):c.55G>T (p.Glu19Ter)

SNV
Germline

Chr12:76348304

Pathogenic

Bardet-Biedl syndrome 10

Criteria Provided
Single Submitter

1 SubmittersRCV005610354

NM_031885.5(BBS2):c.1910+1G>T

SNV
Germline

Chr16:56496966

Pathogenic

Bardet-Biedl syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV005610428

NM_031885.5(BBS2):c.687T>G (p.Tyr229Ter)

SNV
Germline

Chr16:56506150

Pathogenic

Bardet-Biedl syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV005610435

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_025103.4(IFT74):c.727G>T (p.Glu243Ter)

SNV
Germline

Chr9:27011906

Pathogenic

Bardet-Biedl syndrome 22

No Assertion Criteria Provided

1 SubmittersRCV005638017

NM_176824.3(BBS7):c.102+1G>A

SNV
Germline

Chr4:121867980

Pathogenic

Bardet-Biedl syndrome 7

Criteria Provided
Single Submitter

1 SubmittersRCV005884360

NM_025114.4(CEP290):c.1108C>T (p.Gln370Ter)

SNV
Germline

Chr12:88125327

Likely pathogenic

Leber congenital amaurosis 10
Meckel syndrome, type 4
Joubert syndrome 5
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6

Criteria Provided
Single Submitter

1 SubmittersRCV005938416

NM_033028.5(BBS4):c.643-2A>T

SNV
Germline

Chr15:72729614

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006494991

NM_024685.4(BBS10):c.531C>G (p.Tyr177Ter)

SNV
Germline

Chr12:76347454

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006496512

NM_144596.4(TTC8):c.211C>T (p.Gln71Ter)

SNV
Germline

Chr14:88839518

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006511837

NM_144596.4(TTC8):c.579+1G>A

SNV
Germline

Chr14:88841515

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006507226

NM_198428.3(BBS9):c.1016+1G>C

SNV
Germline

Chr7:33273957

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006515703

NM_033028.5(BBS4):c.1360A>T (p.Lys454Ter)

SNV
Germline

Chr15:72736873

Pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006520639

NM_170784.3(MKKS):c.893A>C (p.His298Pro)

SNV
Germline

Chr20:10412622

Likely pathogenic

Bardet-Biedl syndrome 6

Criteria Provided
Single Submitter

1 SubmittersRCV006553778

NM_170784.3(MKKS):c.668C>G (p.Ser223Ter)

SNV
Germline

Chr20:10412847

Likely pathogenic

Bardet-Biedl syndrome 6

Criteria Provided
Single Submitter

1 SubmittersRCV006553779

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_031885.5(BBS2):c.917T>C (p.Ile306Thr)

SNV
Germline

Chr16:56502696

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Bardet-Biedl syndrome 2

Criteria Provided
Conflicting Classifications

2 SubmittersRCV006585986 RCV006735078

NM_006642.5(SDCCAG8):c.52C>T (p.Gln18Ter)

SNV
Germline

Chr1:243256225

Pathogenic

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Single Submitter

1 SubmittersRCV006602994

NM_170784.3(MKKS):c.1033G>A (p.Gly345Arg)

SNV
Germline

Chr20:10408756

Likely pathogenic

Bardet-Biedl syndrome
McKusick-Kaufman syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006598368

NM_006642.5(SDCCAG8):c.466G>T (p.Glu156Ter)

SNV
Germline

Chr1:243286317

Pathogenic

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Single Submitter

1 SubmittersRCV006591787

NM_006642.5(SDCCAG8):c.1221+2T>C

SNV
Germline

Chr1:243330694

Pathogenic

Senior-Loken syndrome 7
Bardet-Biedl syndrome 16

Criteria Provided
Single Submitter

1 SubmittersRCV006592945

NM_170784.3(MKKS):c.122G>A (p.Gly41Asp)

SNV
Germline

Chr20:10413393

Likely pathogenic

McKusick-Kaufman syndrome
Bardet-Biedl syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006600150

NM_031885.5(BBS2):c.919T>C (p.Cys307Arg)

SNV
Germline

Chr16:56502694

Likely pathogenic

Bardet-Biedl syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV006606047

NM_198428.3(BBS9):c.2522-1G>C

SNV
Germline

Chr7:33604864

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006623168

NM_198428.3(BBS9):c.1985T>G (p.Leu662Ter)

SNV
Germline

Chr7:33388014

Pathogenic

Bardet-Biedl syndrome
Condition: not provided

Criteria Provided
Single Submitter

2 SubmittersRCV006620468 RCV006700343

NM_033028.5(BBS4):c.405+2T>G

SNV
Germline

Chr15:72716852

Likely pathogenic

Bardet-Biedl syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006615532

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_024685.4(BBS10):c.185A>G (p.His62Arg)

SNV
Germline

Chr12:76348174

Likely pathogenic

Bardet-Biedl syndrome 10

Criteria Provided
Single Submitter

1 SubmittersRCV006637868

NM_024685.4(BBS10):c.3G>A (p.Met1Ile)

SNV
Germline

Chr12:76348356

Likely pathogenic

Bardet-Biedl syndrome 10

Criteria Provided
Single Submitter

1 SubmittersRCV006637873

NM_024685.4(BBS10):c.521T>G (p.Leu174Ter)

SNV
Germline

Chr12:76347464

Likely pathogenic

Bardet-Biedl syndrome 10

Criteria Provided
Single Submitter

1 SubmittersRCV006637875

NM_024685.4(BBS10):c.602G>A (p.Cys201Tyr)

SNV
Germline

Chr12:76347383

Likely pathogenic

Bardet-Biedl syndrome 10

Criteria Provided
Single Submitter

1 SubmittersRCV006637877

NM_024685.4(BBS10):c.818C>A (p.Ser273Ter)

SNV
Germline

Chr12:76347167

Likely pathogenic

Bardet-Biedl syndrome 10

Criteria Provided
Single Submitter

1 SubmittersRCV006637879

NM_031885.5(BBS2):c.1798-1G>T

SNV
Germline

Chr16:56497080

Likely pathogenic

Bardet-Biedl syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV006637993

NM_031885.5(BBS2):c.1944T>G (p.Tyr648Ter)

SNV
Germline

Chr16:56485705

Likely pathogenic

Bardet-Biedl syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV006637995

NM_031885.5(BBS2):c.346-2A>C

SNV
Germline

Chr16:56511286

Likely pathogenic

Bardet-Biedl syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV006637997

NM_031885.5(BBS2):c.374T>G (p.Leu125Arg)

SNV
Germline

Chr16:56511256

Likely pathogenic

Bardet-Biedl syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV006637998

NM_031885.5(BBS2):c.49C>T (p.Arg17Ter)

SNV
Germline

Chr16:56519814

Likely pathogenic

Bardet-Biedl syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV006637999

NM_031885.5(BBS2):c.647G>C (p.Arg216Pro)

SNV
Germline

Chr16:56506190

Likely pathogenic

Bardet-Biedl syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV006638002

NM_025114.4(CEP290):c.4705-2A>G

SNV
Germline

Chr12:88083956

Likely pathogenic

Leber congenital amaurosis 10
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Senior-Loken syndrome 6
Joubert syndrome 5

Criteria Provided
Single Submitter

1 SubmittersRCV006696092

NM_033028.5(BBS4):c.924T>A (p.Tyr308Ter)

SNV
Germline

Chr15:72731614

Pathogenic

Bardet-Biedl syndrome 4

No Assertion Criteria Provided

1 SubmittersRCV006700008

NM_025103.4(IFT74):c.974+1G>A

SNV
Germline

Chr9:27018688

Likely pathogenic

Bardet-Biedl syndrome 22

Criteria Provided
Single Submitter

1 SubmittersRCV006705877

NM_006642.5(SDCCAG8):c.1843C>T (p.Gln615Ter)

SNV
Germline

Chr1:243418066

Likely pathogenic

Bardet-Biedl syndrome 16

Criteria Provided
Single Submitter

1 SubmittersRCV006739468