Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_003611.3(OFD1):c.1303A>C (p.Ser435Arg)	SNV Germline	ChrX:13756659	Pathogenic	Orofaciodigital syndrome I	No Assertion Criteria Provided	CA341099	rs_122460150	1 SubmittersRCV000012293
NM_003611.3(OFD1):c.413-10T>G	SNV Germline	ChrX:13744405	Pathogenic	Orofaciodigital syndrome I	No Assertion Criteria Provided	CA341101	rs_312262833	1 SubmittersRCV000012296
NM_003611.3(OFD1):c.1099C>T (p.Arg367Ter)	SNV Germline	ChrX:13753411	Pathogenic	Orofaciodigital syndrome I Condition: not provided Joubert syndrome Orofaciodigital syndrome I	Criteria Provided Multiple Submitters No Conflicts	CA343946	rs_312262863	3 SubmittersRCV000033955 RCV001781339 RCV002514145
NM_003611.3(OFD1):c.121C>T (p.Arg41Ter)	SNV Germline	ChrX:13736487	Pathogenic	Joubert syndrome Orofaciodigital syndrome I Retinitis pigmentosa 23 Simpson-Golabi-Behmel syndrome type 2 Orofaciodigital syndrome I Joubert syndrome 10	Criteria Provided Multiple Submitters No Conflicts	CA343958	rs_312262810	2 SubmittersRCV001383219 RCV002496509
NM_003611.3(OFD1):c.260A>G (p.Tyr87Cys)	SNV Germline	ChrX:13736626	Pathogenic	Joubert syndrome Orofaciodigital syndrome I Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA343997	rs_312262818	2 SubmittersRCV000687996 RCV004696645
NM_003611.3(OFD1):c.54A>G (p.Glu18=)	SNV Germline	ChrX:13735289	Conflicting classifications of pathogenicity	not specified Condition: not provided Joubert syndrome Orofaciodigital syndrome I Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA222228	rs_147114577	6 SubmittersRCV000251169 RCV000723696 RCV001518323 RCV004019554
NM_003611.3(OFD1):c.936-2A>G	SNV Germline	ChrX:13751247	Conflicting classifications of pathogenicity	Condition: not provided Congenital anomaly of kidney and urinary tract OFD1-related disorder Orofaciodigital syndrome I Joubert syndrome	Criteria Provided Conflicting Classifications	CA239242	rs_199902986	5 SubmittersRCV000173783 RCV001254710 RCV004535188 RCV001088503
NM_003611.3(OFD1):c.2168C>T (p.Ser723Leu)	SNV Germline	ChrX:13760628	Conflicting classifications of pathogenicity	Condition: not provided Orofaciodigital syndrome I Joubert syndrome Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA240715	rs_746300545	3 SubmittersRCV000175046 RCV000701169 RCV004821992
NM_003611.3(OFD1):c.1469A>G (p.Glu490Gly)	SNV Germline	ChrX:13757717	Conflicting classifications of pathogenicity	not specified Orofaciodigital syndrome I Joubert syndrome	Criteria Provided Conflicting Classifications	CA205291	rs_754484224	2 SubmittersRCV000192458 RCV002054273
NM_003611.3(OFD1):c.2584T>G (p.Ser862Ala)	SNV Germline	ChrX:13763840	Conflicting classifications of pathogenicity	not specified Orofaciodigital syndrome I Joubert syndrome Orofaciodigital syndrome I Retinitis pigmentosa 23 Simpson-Golabi-Behmel syndrome type 2 Joubert syndrome 10 Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA205192	rs_797045846	4 SubmittersRCV000192398 RCV001223911 RCV002485287 RCV004020331
NM_003611.3(OFD1):c.149A>G (p.His50Arg)	SNV Germline	ChrX:13736515	Conflicting classifications of pathogenicity	Joubert syndrome 10 Orofaciodigital syndrome I Joubert syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA279419	rs_863225213	4 SubmittersRCV000201618 RCV001307208 RCV002307444
NM_003611.3(OFD1):c.2668C>T (p.Arg890Ter)	SNV Germline	ChrX:13767195	Pathogenic/Likely pathogenic	Joubert syndrome 10 Condition: not provided Retinal dystrophy Orofaciodigital syndrome I Joubert syndrome	Criteria Provided Multiple Submitters No Conflicts	CA279372	rs_863225212	5 SubmittersRCV000201562 RCV000484195 RCV003888641 RCV001383220
NM_003611.3(OFD1):c.355C>A (p.Pro119Thr)	SNV Germline	ChrX:13738888	Conflicting classifications of pathogenicity	Joubert syndrome Orofaciodigital syndrome I Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA349854	rs_202103941	2 SubmittersRCV002057049 RCV004020507
NM_003611.3(OFD1):c.276T>C (p.Ser92=)	SNV Germline	ChrX:13736642	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome Orofaciodigital syndrome I OFD1-related disorder Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA10351553	rs_201675886	4 SubmittersRCV000334639 RCV002059241 RCV004535414 RCV004021254
NM_003611.3(OFD1):c.2060C>T (p.Pro687Leu)	SNV Germline	ChrX:13760520	Conflicting classifications of pathogenicity	History of neurodevelopmental disorder Joubert syndrome Orofaciodigital syndrome I Condition: not provided	Criteria Provided Conflicting Classifications	CA10351924	rs_146251034	5 SubmittersRCV000721041 RCV000638949 RCV000435733
NM_003611.3(OFD1):c.2725C>T (p.Arg909Ter)	SNV Germline	ChrX:13767252	Pathogenic	Orofaciodigital syndrome I Joubert syndrome OFD1-related disorder Primary ciliary dyskinesia Respiratory ciliopathies including non-CF bronchiectasis Orofaciodigital syndrome I	Criteria Provided Multiple Submitters No Conflicts	CA16616638	rs_1060500123	5 SubmittersRCV000465580 RCV002279956 RCV003448908 RCV005252898 RCV003448310
NM_003611.3(OFD1):c.1102C>G (p.Leu368Val)	SNV Germline	ChrX:13753414	Conflicting classifications of pathogenicity	not specified Joubert syndrome Orofaciodigital syndrome I Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA10351747	rs_192285113	3 SubmittersRCV000500732 RCV002056861 RCV004023391
NM_003611.3(OFD1):c.1634A>G (p.Gln545Arg)	SNV Germline	ChrX:13758428	Conflicting classifications of pathogenicity	not specified Condition: not provided Joubert syndrome Orofaciodigital syndrome I	Criteria Provided Conflicting Classifications	CA10351857	rs_373792491	3 SubmittersRCV000517838 RCV000867745 RCV002527503
NM_003611.3(OFD1):c.2261-6C>G	SNV Germline	ChrX:13761079	Likely pathogenic	Joubert syndrome Orofaciodigital syndrome I	Criteria Provided Single Submitter	CA658658929	rs_769923969	1 SubmittersRCV000533164
NM_003611.3(OFD1):c.2025G>T (p.Leu675Phe)	SNV Germline	ChrX:13760485	Conflicting classifications of pathogenicity	Joubert syndrome Orofaciodigital syndrome I Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA10351920	rs_149473481	2 SubmittersRCV000545002 RCV004023911
NM_003611.3(OFD1):c.2996+10T>C	SNV Germline	ChrX:13768795	Conflicting classifications of pathogenicity	Condition: not provided Orofaciodigital syndrome I Joubert syndrome	Criteria Provided Conflicting Classifications	CA10352131	rs_769127095	2 SubmittersRCV000596920 RCV005213330
NM_003611.3(OFD1):c.748G>T (p.Glu250Ter)	SNV Germline	ChrX:13746873	Pathogenic	Orofaciodigital syndrome I Joubert syndrome	Criteria Provided Single Submitter	CA412338029	rs_1555902866	1 SubmittersRCV000638944
NM_003611.3(OFD1):c.892G>A (p.Gly298Arg)	SNV Germline	ChrX:13749490	Conflicting classifications of pathogenicity	Orofaciodigital syndrome I Joubert syndrome Orofaciodigital syndrome I Simpson-Golabi-Behmel syndrome type 2 Retinitis pigmentosa 23 Joubert syndrome 10 OFD1-related disorder	Criteria Provided Conflicting Classifications	CA10351708	rs_778349684	3 SubmittersRCV000638947 RCV000766074 RCV004737917
NM_003611.3(OFD1):c.344T>A (p.Ile115Asn)	SNV Unknown	ChrX:13738877	Pathogenic	Orofaciodigital syndrome I	Criteria Provided Single Submitter	CA412333660	rs_1555901137	1 SubmittersRCV000677727
NM_003611.3(OFD1):c.412+1G>T	SNV Unknown	ChrX:13739033	Likely pathogenic	Orofaciodigital syndrome I	Criteria Provided Single Submitter	CA412334264	rs_1555901169	1 SubmittersRCV000677728
NM_003611.3(OFD1):c.1313C>G (p.Ser438Ter)	SNV Germline	ChrX:13756669	Pathogenic	Joubert syndrome Orofaciodigital syndrome I	Criteria Provided Single Submitter	CA412342732	rs_1569141500	1 SubmittersRCV000706240
NM_003611.3(OFD1):c.324G>A (p.Met108Ile)	SNV Germline	ChrX:13738857	Conflicting classifications of pathogenicity	Simpson-Golabi-Behmel syndrome type 2 Orofaciodigital syndrome I Joubert syndrome 10 Retinitis pigmentosa 23 not specified Joubert syndrome Orofaciodigital syndrome I Condition: not provided	Criteria Provided Conflicting Classifications	CA10351574	rs_763219658	4 SubmittersRCV000766073 RCV003330905 RCV000692393 RCV003133533
NM_003611.3(OFD1):c.312+1G>T	SNV Germline	ChrX:13736679	Likely pathogenic	Joubert syndrome Orofaciodigital syndrome I	Criteria Provided Single Submitter	CA412333581	rs_1569102786	1 SubmittersRCV000706155
NM_003611.3(OFD1):c.919G>A (p.Val307Ile)	SNV Germline	ChrX:13749517	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome Orofaciodigital syndrome I OFD1-related disorder Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA10351711	rs_139444990	4 SubmittersRCV000712459 RCV002060889 RCV004535766 RCV004026820
NM_003611.3(OFD1):c.2192C>T (p.Ser731Phe)	SNV Germline	ChrX:13760652	Conflicting classifications of pathogenicity	Joubert syndrome Orofaciodigital syndrome I Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA10351946	rs_375698090	2 SubmittersRCV002060911 RCV004026864
NM_003611.3(OFD1):c.2600-4T>G	SNV Germline	ChrX:13767123	Conflicting classifications of pathogenicity	Orofaciodigital syndrome I Joubert syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10352056	rs_753195130	2 SubmittersRCV001511002 RCV004721659
NM_003611.3(OFD1):c.569G>A (p.Arg190His)	SNV Germline	ChrX:13746370	Conflicting classifications of pathogenicity	Joubert syndrome Orofaciodigital syndrome I Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA10351646	rs_150560046	2 SubmittersRCV001520548 RCV004027844
NM_003611.3(OFD1):c.1961G>A (p.Arg654Gln)	SNV Germline	ChrX:13760421	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome Orofaciodigital syndrome I	Criteria Provided Conflicting Classifications	CA10351912	rs_746612831	2 SubmittersRCV000899438 RCV002065676
NM_003611.3(OFD1):c.565C>T (p.Gln189Ter)	SNV Germline	ChrX:13746366	Pathogenic	Joubert syndrome Orofaciodigital syndrome I	Criteria Provided Single Submitter	CA412337033	rs_2047298129	1 SubmittersRCV001054764
NM_003611.3(OFD1):c.2669G>A (p.Arg890Gln)	SNV Germline	ChrX:13767196	Conflicting classifications of pathogenicity	Rare genetic intellectual disability Primary ciliary dyskinesia Joubert syndrome Orofaciodigital syndrome I not specified	Criteria Provided Conflicting Classifications	CA10352061	rs_748643730	4 SubmittersRCV001257024 RCV004035368 RCV003770338 RCV004800761
NM_003611.3(OFD1):c.2176C>T (p.Arg726Cys)	SNV Germline	ChrX:13760636	Conflicting classifications of pathogenicity	Joubert syndrome 10 Joubert syndrome Orofaciodigital syndrome I Retinitis pigmentosa 23 Simpson-Golabi-Behmel syndrome type 2 Joubert syndrome 10 Orofaciodigital syndrome I	Criteria Provided Conflicting Classifications	CA412344682	rs_1260959326	3 SubmittersRCV001262142 RCV003770364 RCV005040107
NM_003611.3(OFD1):c.1640A>G (p.Lys547Arg)	SNV Unknown	ChrX:13758434	Likely pathogenic	Orofaciodigital syndrome I	Criteria Provided Single Submitter	CA412343482	rs_2047796952	1 SubmittersRCV001331084
NM_003611.3(OFD1):c.111+2T>G	SNV Germline	ChrX:13735348	Pathogenic	Joubert syndrome Orofaciodigital syndrome I	Criteria Provided Single Submitter	CA412331964	rs_312262809	1 SubmittersRCV001380141
NM_003611.3(OFD1):c.1015G>A (p.Glu339Lys)	SNV Germline	ChrX:13751328	Conflicting classifications of pathogenicity	OFD1-related disorder Condition: not provided Joubert syndrome Orofaciodigital syndrome I Joubert syndrome 10 Simpson-Golabi-Behmel syndrome type 2 Orofaciodigital syndrome I Retinitis pigmentosa 23	Criteria Provided Conflicting Classifications	CA412339937	rs_1374240720	4 SubmittersRCV004540312 RCV003442882 RCV001430906 RCV005040281
NM_003611.3(OFD1):c.494C>T (p.Ser165Leu)	SNV Germline	ChrX:13744496	Conflicting classifications of pathogenicity	Joubert syndrome Orofaciodigital syndrome I Joubert syndrome 10 Simpson-Golabi-Behmel syndrome type 2 Orofaciodigital syndrome I Retinitis pigmentosa 23 Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA10351619	rs_756793358	3 SubmittersRCV001517035 RCV002501798 RCV004037941
NM_003611.3(OFD1):c.1742G>A (p.Cys581Tyr)	SNV Germline	ChrX:13760202	Conflicting classifications of pathogenicity	Joubert syndrome Orofaciodigital syndrome I Primary ciliary dyskinesia OFD1-related disorder	Criteria Provided Conflicting Classifications	CA10351884	rs_201230660	3 SubmittersRCV001521664 RCV004037954 RCV004738329
NM_003611.3(OFD1):c.1411+1G>A	SNV Germline	ChrX:13756768	Pathogenic	Orofaciodigital syndrome I Joubert syndrome 10 Simpson-Golabi-Behmel syndrome type 2 Retinitis pigmentosa 23	Criteria Provided Single Submitter	CA412342954	rs_2147027077	1 SubmittersRCV001535950
NM_003611.3(OFD1):c.2078G>A (p.Gly693Glu)	SNV Germline	ChrX:13760538	Conflicting classifications of pathogenicity	Condition: not provided not specified Joubert syndrome Orofaciodigital syndrome I	Criteria Provided Conflicting Classifications	CA10351928	rs_754615597	4 SubmittersRCV001572305 RCV001821904 RCV001866038
NM_003611.3(OFD1):c.1030C>T (p.Arg344Ter)	SNV Germline	ChrX:13751343	Conflicting classifications of pathogenicity	Joubert syndrome 10 Simpson-Golabi-Behmel syndrome type 2 Condition: not provided Joubert syndrome 10 Joubert syndrome Orofaciodigital syndrome I	Criteria Provided Conflicting Classifications	CA10351732	rs_758903488	5 SubmittersRCV001726720 RCV003130543 RCV002471136 RCV002538677
NM_003611.3(OFD1):c.2223A>G (p.Lys741=)	SNV Germline	ChrX:13760683	Conflicting classifications of pathogenicity	Condition: not provided Orofaciodigital syndrome I Joubert syndrome Primary ciliary dyskinesia OFD1-related disorder	Criteria Provided Conflicting Classifications	CA515624183	rs_1355239331	4 SubmittersRCV001758295 RCV002077186 RCV004040083 RCV004738366
NM_003611.3(OFD1):c.656T>G (p.Leu219Trp)	SNV Germline	ChrX:13746781	Conflicting classifications of pathogenicity	Condition: not provided Orofaciodigital syndrome I Joubert syndrome Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA10351669	rs_780055525	3 SubmittersRCV001771053 RCV001861107 RCV004040147
NM_003611.3(OFD1):c.2488+1G>A	SNV Germline	ChrX:13762445	Likely pathogenic	Orofaciodigital syndrome I	Criteria Provided Single Submitter	CA412345389	rs_2147060461	1 SubmittersRCV001808142
NM_003611.3(OFD1):c.2726G>A (p.Arg909Gln)	SNV Germline	ChrX:13767253	Conflicting classifications of pathogenicity	not specified Orofaciodigital syndrome I Joubert syndrome Joubert syndrome 10 Orofaciodigital syndrome I Simpson-Golabi-Behmel syndrome type 2 Retinitis pigmentosa 23 Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA10352070	rs_371848382	4 SubmittersRCV001817300 RCV002074279 RCV005040396 RCV004040963
NM_003611.3(OFD1):c.2505A>G (p.Pro835=)	SNV Germline	ChrX:13763761	Conflicting classifications of pathogenicity	not specified Orofaciodigital syndrome I Joubert syndrome	Criteria Provided Conflicting Classifications	CA10352028	rs_759468353	2 SubmittersRCV001820572 RCV002542636
NM_003611.3(OFD1):c.1205G>A (p.Arg402His)	SNV Germline	ChrX:13755226	Conflicting classifications of pathogenicity	Orofaciodigital syndrome I Joubert syndrome Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA412342432	rs_1283023888	2 SubmittersRCV001892845 RCV004822950
NM_003611.3(OFD1):c.1699G>A (p.Asp567Asn)	SNV Germline	ChrX:13760159	Conflicting classifications of pathogenicity	Joubert syndrome Orofaciodigital syndrome I Intellectual disability	Criteria Provided Conflicting Classifications	CA10351879	rs_760663674	2 SubmittersRCV001872156 RCV005626517
NM_003611.3(OFD1):c.1128A>C (p.Lys376Asn)	SNV Germline	ChrX:13753440	Conflicting classifications of pathogenicity	Orofaciodigital syndrome I Joubert syndrome not specified Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA10351751	rs_758883184	3 SubmittersRCV001905376 RCV003987921 RCV004822943
NM_003611.3(OFD1):c.1837A>G (p.Thr613Ala)	SNV Germline	ChrX:13760297	Conflicting classifications of pathogenicity	Joubert syndrome Orofaciodigital syndrome I OFD1-related disorder Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA10351895	rs_775062213	3 SubmittersRCV002086032 RCV004531349 RCV004045760
NM_003611.3(OFD1):c.2708A>T (p.Glu903Val)	SNV Germline	ChrX:13767235	Conflicting classifications of pathogenicity	Joubert syndrome Orofaciodigital syndrome I Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA10352068	rs_761100130	2 SubmittersRCV002114734 RCV004046547
NM_003611.3(OFD1):c.3027C>G (p.Asp1009Glu)	SNV Germline	ChrX:13769096	Conflicting classifications of pathogenicity	Joubert syndrome Orofaciodigital syndrome I Primary ciliary dyskinesia Simpson-Golabi-Behmel syndrome type 2 Joubert syndrome 10 Retinitis pigmentosa 23 Orofaciodigital syndrome I	Criteria Provided Conflicting Classifications	CA10352147	rs_758646234	3 SubmittersRCV002121294 RCV004046541 RCV005042739
NM_003611.3(OFD1):c.345T>G (p.Ile115Met)	SNV Germline	ChrX:13738878	Conflicting classifications of pathogenicity	Joubert syndrome Orofaciodigital syndrome I Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA10351576	rs_751918276	2 SubmittersRCV002218623 RCV004045640
NM_003611.3(OFD1):c.1703G>A (p.Arg568His)	SNV Germline	ChrX:13760163	Conflicting classifications of pathogenicity	Orofaciodigital syndrome I Joubert syndrome Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA10351880	rs_376012267	3 SubmittersRCV002076640 RCV003481258 RCV003889018
NM_003611.3(OFD1):c.2101C>T (p.Gln701Ter)	SNV Germline	ChrX:13760561	Pathogenic	Orofaciodigital syndrome I Joubert syndrome	Criteria Provided Single Submitter	CA412344522	rs_2518940054	1 SubmittersRCV003064670
NM_003611.3(OFD1):c.1879T>C (p.Phe627Leu)	SNV Germline	ChrX:13760339	Conflicting classifications of pathogenicity	Joubert syndrome Orofaciodigital syndrome I Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA10351902	rs_752808249	2 SubmittersRCV003064381 RCV005445763
NM_003611.3(OFD1):c.2940G>C (p.Lys980Asn)	SNV Germline	ChrX:13768729	Conflicting classifications of pathogenicity	Joubert syndrome Orofaciodigital syndrome I Primary ciliary dyskinesia Simpson-Golabi-Behmel syndrome type 2 Joubert syndrome 10 Orofaciodigital syndrome I Retinitis pigmentosa 23	Criteria Provided Conflicting Classifications	CA10352116	rs_762218314	3 SubmittersRCV003076358 RCV004823092 RCV005045213
NM_003611.3(OFD1):c.1300A>G (p.Met434Val)	SNV Germline	ChrX:13756656	Conflicting classifications of pathogenicity	Joubert syndrome Orofaciodigital syndrome I Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA412342682	rs_1191893961	2 SubmittersRCV002598892 RCV005455703
NM_003611.3(OFD1):c.2489-13G>A	SNV Germline	ChrX:13763732	Conflicting classifications of pathogenicity	Orofaciodigital syndrome I Joubert syndrome Simpson-Golabi-Behmel syndrome type 2 Retinitis pigmentosa 23 Orofaciodigital syndrome I Joubert syndrome 10	Criteria Provided Conflicting Classifications	CA10352024	rs_377737395	2 SubmittersRCV002602865 RCV005045321
NM_003611.3(OFD1):c.2372C>T (p.Pro791Leu)	SNV Germline	ChrX:13761196	Conflicting classifications of pathogenicity	Joubert syndrome Orofaciodigital syndrome I Retinal dystrophy Primary ciliary dyskinesia Simpson-Golabi-Behmel syndrome type 2 Joubert syndrome 10 Retinitis pigmentosa 23 Orofaciodigital syndrome I	Criteria Provided Conflicting Classifications	CA10351984	rs_753498008	4 SubmittersRCV002625211 RCV003889261 RCV004823119 RCV005045360
NM_003611.3(OFD1):c.2388-1G>A	SNV Germline	ChrX:13762343	Likely pathogenic	Joubert syndrome Orofaciodigital syndrome I	Criteria Provided Single Submitter	CA10352003	rs_750227810	1 SubmittersRCV002596430
NM_003611.3(OFD1):c.2672G>A (p.Arg891Lys)	SNV Germline	ChrX:13767199	Conflicting classifications of pathogenicity	Joubert syndrome Orofaciodigital syndrome I Primary ciliary dyskinesia Simpson-Golabi-Behmel syndrome type 2 Joubert syndrome 10 Retinitis pigmentosa 23 Orofaciodigital syndrome I	Criteria Provided Conflicting Classifications	CA10352062	rs_769469366	3 SubmittersRCV002589811 RCV004823043 RCV005042887
NM_003611.3(OFD1):c.1809G>T (p.Met603Ile)	SNV Germline	ChrX:13760269	Conflicting classifications of pathogenicity	Joubert syndrome Orofaciodigital syndrome I Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA10351894	rs_771742424	2 SubmittersRCV002625973 RCV004065845
NM_003611.3(OFD1):c.2508G>A (p.Arg836=)	SNV Germline	ChrX:13763764	Conflicting classifications of pathogenicity	Joubert syndrome Orofaciodigital syndrome I OFD1-related disorder	Criteria Provided Conflicting Classifications	CA515466785	rs_2048023499	2 SubmittersRCV002700889 RCV004529165
NM_003611.3(OFD1):c.2395C>T (p.Arg799Ter)	SNV Germline	ChrX:13762351	Pathogenic	Joubert syndrome Orofaciodigital syndrome I	Criteria Provided Single Submitter	CA412345169	rs_2518959653	1 SubmittersRCV002862271
NM_003611.3(OFD1):c.2928+7G>A	SNV Germline	ChrX:13768231	Conflicting classifications of pathogenicity	Joubert syndrome Orofaciodigital syndrome I Simpson-Golabi-Behmel syndrome type 2 Joubert syndrome 10 Retinitis pigmentosa 23 Orofaciodigital syndrome I	Criteria Provided Conflicting Classifications	CA326115577	rs_912239987	2 SubmittersRCV003002712 RCV005045149
NM_003611.3(OFD1):c.1743C>A (p.Cys581Ter)	SNV Germline	ChrX:13760203	Pathogenic	Orofaciodigital syndrome I Joubert syndrome	Criteria Provided Single Submitter	CA412343725	rs_983722470	1 SubmittersRCV003055752
NM_003611.3(OFD1):c.2647C>T (p.Arg883Trp)	SNV Germline	ChrX:13767174	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Joubert syndrome Orofaciodigital syndrome I Simpson-Golabi-Behmel syndrome type 2 Joubert syndrome 10 Retinitis pigmentosa 23 Orofaciodigital syndrome I	Criteria Provided Conflicting Classifications	CA10352059	rs_149790559	3 SubmittersRCV004081054 RCV003777590 RCV005045378
NM_003611.3(OFD1):c.2778G>T (p.Leu926=)	SNV Germline	ChrX:13768074	Conflicting classifications of pathogenicity	Condition: not provided Primary ciliary dyskinesia Joubert syndrome Orofaciodigital syndrome I	Criteria Provided Conflicting Classifications	CA515457490	rs_2518998297	3 SubmittersRCV003133109 RCV004636716 RCV003778738
NM_003611.3(OFD1):c.112-11T>G	SNV Germline	ChrX:13736467	Pathogenic	Orofaciodigital syndrome I	Criteria Provided Single Submitter	CA2580100350	rs_180882901	1 SubmittersRCV003223605
NM_003611.3(OFD1):c.313-1G>T	SNV Germline	ChrX:13738845	Likely pathogenic	Orofaciodigital syndrome I	Criteria Provided Single Submitter	CA412333590	rs_2518776413	1 SubmittersRCV003232908
NM_003611.3(OFD1):c.2758-2A>T	SNV Germline	ChrX:13768052	Conflicting classifications of pathogenicity	not specified OFD1-related disorder Joubert syndrome Orofaciodigital syndrome I	Criteria Provided Conflicting Classifications	CA412312310	rs_1254987046	3 SubmittersRCV003317841 RCV004529622 RCV005216045
NM_003611.3(OFD1):c.1190A>G (p.Asn397Ser)	SNV Germline	ChrX:13755211	Conflicting classifications of pathogenicity	Joubert syndrome Orofaciodigital syndrome I Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications	CA10351776	rs_755523044	2 SubmittersRCV003787160 RCV004823210
NM_003611.3(OFD1):c.2261G>A (p.Gly754Asp)	SNV Germline	ChrX:13761085	Conflicting classifications of pathogenicity	Orofaciodigital syndrome I Joubert syndrome Simpson-Golabi-Behmel syndrome type 2 Retinitis pigmentosa 23 Joubert syndrome 10 Orofaciodigital syndrome I	Criteria Provided Conflicting Classifications	CA10351975	rs_190688700	2 SubmittersRCV003786619 RCV005040505
NM_003611.3(OFD1):c.1927G>T (p.Glu643Ter)	SNV Germline	ChrX:13760387	Pathogenic	Joubert syndrome Orofaciodigital syndrome I	Criteria Provided Single Submitter	CA412344134	rs_1397283663	1 SubmittersRCV003803794
NM_003611.3(OFD1):c.1114G>T (p.Glu372Ter)	SNV Germline	ChrX:13753426	Pathogenic	Joubert syndrome Orofaciodigital syndrome I	Criteria Provided Single Submitter	CA412341900	rs_2518886198	1 SubmittersRCV003795182
NM_003611.3(OFD1):c.935+1G>C	SNV Germline	ChrX:13749534	Pathogenic	Joubert syndrome Orofaciodigital syndrome I	Criteria Provided Single Submitter	CA412339144	rs_2518857883	1 SubmittersRCV003809322
NM_003611.3(OFD1):c.1513C>T (p.Gln505Ter)	SNV Germline	ChrX:13757761	Likely pathogenic	Orofaciodigital syndrome I	Criteria Provided Single Submitter			1 SubmittersRCV004598363
NM_003611.3(OFD1):c.2620G>T (p.Glu874Ter)	SNV Germline	ChrX:13767147	Pathogenic	Orofaciodigital syndrome I	Criteria Provided Single Submitter			1 SubmittersRCV004788262
NM_003611.3(OFD1):c.1370A>T (p.Gln457Leu)	SNV Germline	ChrX:13756726	Conflicting classifications of pathogenicity	Primary ciliary dyskinesia Joubert syndrome Orofaciodigital syndrome I	Criteria Provided Conflicting Classifications			2 SubmittersRCV004821552 RCV005218359
NM_003611.3(OFD1):c.1055+1G>T	SNV Germline	ChrX:13751369	Likely pathogenic	Joubert syndrome 10 Simpson-Golabi-Behmel syndrome type 2 Retinitis pigmentosa 23 Orofaciodigital syndrome I	Criteria Provided Single Submitter			1 SubmittersRCV005049286
NM_003611.3(OFD1):c.1559A>G (p.Gln520Arg)	SNV Germline	ChrX:13758353	Conflicting classifications of pathogenicity	Simpson-Golabi-Behmel syndrome type 2 Joubert syndrome 10 Orofaciodigital syndrome I Retinitis pigmentosa 23 Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications			2 SubmittersRCV005041624 RCV005448058
NM_003611.3(OFD1):c.1804C>T (p.Arg602Cys)	SNV Germline	ChrX:13760264	Conflicting classifications of pathogenicity	Simpson-Golabi-Behmel syndrome type 2 Joubert syndrome 10 Orofaciodigital syndrome I Retinitis pigmentosa 23 Joubert syndrome Orofaciodigital syndrome I	Criteria Provided Conflicting Classifications			2 SubmittersRCV005041629 RCV005218418
NM_003611.3(OFD1):c.1540G>A (p.Glu514Lys)	SNV Germline	ChrX:13757788	Conflicting classifications of pathogenicity	Joubert syndrome Orofaciodigital syndrome I Primary ciliary dyskinesia	Criteria Provided Conflicting Classifications			2 SubmittersRCV005223379 RCV005458018
NM_003611.3(OFD1):c.2489-2A>C	SNV Germline	ChrX:13763743	Likely pathogenic	Joubert syndrome Orofaciodigital syndrome I	Criteria Provided Single Submitter			1 SubmittersRCV005225019
NM_003611.3(OFD1):c.1925C>A (p.Ala642Asp)	SNV Germline	ChrX:13760385	Pathogenic	Orofaciodigital syndrome I	No Assertion Criteria Provided			1 SubmittersRCV005247991
NM_003611.3(OFD1):c.2387+2T>C	SNV Germline	ChrX:13761213	Likely pathogenic	Orofaciodigital syndrome I	Criteria Provided Single Submitter			1 SubmittersRCV005408260

NM_003611.3(OFD1):c.1303A>C (p.Ser435Arg)

SNV
Germline

ChrX:13756659

Pathogenic

Orofaciodigital syndrome I

No Assertion Criteria Provided

CA341099

rs_122460150

1 SubmittersRCV000012293

NM_003611.3(OFD1):c.413-10T>G

SNV
Germline

ChrX:13744405

Pathogenic

Orofaciodigital syndrome I

No Assertion Criteria Provided

CA341101

rs_312262833

1 SubmittersRCV000012296

NM_003611.3(OFD1):c.1099C>T (p.Arg367Ter)

SNV
Germline

ChrX:13753411

Pathogenic

Orofaciodigital syndrome I
Condition: not provided
Joubert syndrome
Orofaciodigital syndrome I

Criteria Provided
Multiple Submitters
No Conflicts

CA343946

rs_312262863

3 SubmittersRCV000033955 RCV001781339 RCV002514145

NM_003611.3(OFD1):c.121C>T (p.Arg41Ter)

SNV
Germline

ChrX:13736487

Pathogenic

Joubert syndrome
Orofaciodigital syndrome I
Retinitis pigmentosa 23
Simpson-Golabi-Behmel syndrome type 2
Orofaciodigital syndrome I
Joubert syndrome 10

Criteria Provided
Multiple Submitters
No Conflicts

CA343958

rs_312262810

2 SubmittersRCV001383219 RCV002496509

NM_003611.3(OFD1):c.260A>G (p.Tyr87Cys)

SNV
Germline

ChrX:13736626

Pathogenic

Joubert syndrome
Orofaciodigital syndrome I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA343997

rs_312262818

2 SubmittersRCV000687996 RCV004696645

NM_003611.3(OFD1):c.54A>G (p.Glu18=)

SNV
Germline

ChrX:13735289

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA222228

rs_147114577

6 SubmittersRCV000251169 RCV000723696 RCV001518323 RCV004019554

NM_003611.3(OFD1):c.936-2A>G

SNV
Germline

ChrX:13751247

Conflicting classifications of pathogenicity

Condition: not provided
Congenital anomaly of kidney and urinary tract
OFD1-related disorder
Orofaciodigital syndrome I
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA239242

rs_199902986

5 SubmittersRCV000173783 RCV001254710 RCV004535188 RCV001088503

NM_003611.3(OFD1):c.2168C>T (p.Ser723Leu)

SNV
Germline

ChrX:13760628

Conflicting classifications of pathogenicity

Condition: not provided
Orofaciodigital syndrome I
Joubert syndrome
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA240715

rs_746300545

3 SubmittersRCV000175046 RCV000701169 RCV004821992

NM_003611.3(OFD1):c.1469A>G (p.Glu490Gly)

SNV
Germline

ChrX:13757717

Conflicting classifications of pathogenicity

not specified
Orofaciodigital syndrome I
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA205291

rs_754484224

2 SubmittersRCV000192458 RCV002054273

NM_003611.3(OFD1):c.2584T>G (p.Ser862Ala)

SNV
Germline

ChrX:13763840

Conflicting classifications of pathogenicity

not specified
Orofaciodigital syndrome I
Joubert syndrome
Orofaciodigital syndrome I
Retinitis pigmentosa 23
Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA205192

rs_797045846

4 SubmittersRCV000192398 RCV001223911 RCV002485287 RCV004020331

NM_003611.3(OFD1):c.149A>G (p.His50Arg)

SNV
Germline

ChrX:13736515

Conflicting classifications of pathogenicity

Joubert syndrome 10
Orofaciodigital syndrome I
Joubert syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA279419

rs_863225213

4 SubmittersRCV000201618 RCV001307208 RCV002307444

NM_003611.3(OFD1):c.2668C>T (p.Arg890Ter)

SNV
Germline

ChrX:13767195

Pathogenic/Likely pathogenic

Joubert syndrome 10
Condition: not provided
Retinal dystrophy
Orofaciodigital syndrome I
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA279372

rs_863225212

5 SubmittersRCV000201562 RCV000484195 RCV003888641 RCV001383220

NM_003611.3(OFD1):c.355C>A (p.Pro119Thr)

SNV
Germline

ChrX:13738888

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA349854

rs_202103941

2 SubmittersRCV002057049 RCV004020507

NM_003611.3(OFD1):c.276T>C (p.Ser92=)

SNV
Germline

ChrX:13736642

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Orofaciodigital syndrome I
OFD1-related disorder
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10351553

rs_201675886

4 SubmittersRCV000334639 RCV002059241 RCV004535414 RCV004021254

NM_003611.3(OFD1):c.2060C>T (p.Pro687Leu)

SNV
Germline

ChrX:13760520

Conflicting classifications of pathogenicity

History of neurodevelopmental disorder
Joubert syndrome
Orofaciodigital syndrome I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10351924

rs_146251034

5 SubmittersRCV000721041 RCV000638949 RCV000435733

NM_003611.3(OFD1):c.2725C>T (p.Arg909Ter)

SNV
Germline

ChrX:13767252

Pathogenic

Orofaciodigital syndrome I
Joubert syndrome
OFD1-related disorder
Primary ciliary dyskinesia
Respiratory ciliopathies including non-CF bronchiectasis
Orofaciodigital syndrome I

Criteria Provided
Multiple Submitters
No Conflicts

CA16616638

rs_1060500123

5 SubmittersRCV000465580 RCV002279956 RCV003448908 RCV005252898 RCV003448310

NM_003611.3(OFD1):c.1102C>G (p.Leu368Val)

SNV
Germline

ChrX:13753414

Conflicting classifications of pathogenicity

not specified
Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10351747

rs_192285113

3 SubmittersRCV000500732 RCV002056861 RCV004023391

NM_003611.3(OFD1):c.1634A>G (p.Gln545Arg)

SNV
Germline

ChrX:13758428

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Joubert syndrome
Orofaciodigital syndrome I

Criteria Provided
Conflicting Classifications

CA10351857

rs_373792491

3 SubmittersRCV000517838 RCV000867745 RCV002527503

NM_003611.3(OFD1):c.2261-6C>G

SNV
Germline

ChrX:13761079

Likely pathogenic

Joubert syndrome
Orofaciodigital syndrome I

Criteria Provided
Single Submitter

CA658658929

rs_769923969

1 SubmittersRCV000533164

NM_003611.3(OFD1):c.2025G>T (p.Leu675Phe)

SNV
Germline

ChrX:13760485

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10351920

rs_149473481

2 SubmittersRCV000545002 RCV004023911

NM_003611.3(OFD1):c.2996+10T>C

SNV
Germline

ChrX:13768795

Conflicting classifications of pathogenicity

Condition: not provided
Orofaciodigital syndrome I
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA10352131

rs_769127095

2 SubmittersRCV000596920 RCV005213330

NM_003611.3(OFD1):c.748G>T (p.Glu250Ter)

SNV
Germline

ChrX:13746873

Pathogenic

Orofaciodigital syndrome I
Joubert syndrome

Criteria Provided
Single Submitter

CA412338029

rs_1555902866

1 SubmittersRCV000638944

NM_003611.3(OFD1):c.892G>A (p.Gly298Arg)

SNV
Germline

ChrX:13749490

Conflicting classifications of pathogenicity

Orofaciodigital syndrome I
Joubert syndrome
Orofaciodigital syndrome I
Simpson-Golabi-Behmel syndrome type 2
Retinitis pigmentosa 23
Joubert syndrome 10
OFD1-related disorder

Criteria Provided
Conflicting Classifications

CA10351708

rs_778349684

3 SubmittersRCV000638947 RCV000766074 RCV004737917

NM_003611.3(OFD1):c.344T>A (p.Ile115Asn)

SNV
Unknown

ChrX:13738877

Pathogenic

Orofaciodigital syndrome I

Criteria Provided
Single Submitter

CA412333660

rs_1555901137

1 SubmittersRCV000677727

NM_003611.3(OFD1):c.412+1G>T

SNV
Unknown

ChrX:13739033

Likely pathogenic

Orofaciodigital syndrome I

Criteria Provided
Single Submitter

CA412334264

rs_1555901169

1 SubmittersRCV000677728

NM_003611.3(OFD1):c.1313C>G (p.Ser438Ter)

SNV
Germline

ChrX:13756669

Pathogenic

Joubert syndrome
Orofaciodigital syndrome I

Criteria Provided
Single Submitter

CA412342732

rs_1569141500

1 SubmittersRCV000706240

NM_003611.3(OFD1):c.324G>A (p.Met108Ile)

SNV
Germline

ChrX:13738857

Conflicting classifications of pathogenicity

Simpson-Golabi-Behmel syndrome type 2
Orofaciodigital syndrome I
Joubert syndrome 10
Retinitis pigmentosa 23
not specified
Joubert syndrome
Orofaciodigital syndrome I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10351574

rs_763219658

4 SubmittersRCV000766073 RCV003330905 RCV000692393 RCV003133533

NM_003611.3(OFD1):c.312+1G>T

SNV
Germline

ChrX:13736679

Likely pathogenic

Joubert syndrome
Orofaciodigital syndrome I

Criteria Provided
Single Submitter

CA412333581

rs_1569102786

1 SubmittersRCV000706155

NM_003611.3(OFD1):c.919G>A (p.Val307Ile)

SNV
Germline

ChrX:13749517

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Orofaciodigital syndrome I
OFD1-related disorder
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10351711

rs_139444990

4 SubmittersRCV000712459 RCV002060889 RCV004535766 RCV004026820

NM_003611.3(OFD1):c.2192C>T (p.Ser731Phe)

SNV
Germline

ChrX:13760652

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10351946

rs_375698090

2 SubmittersRCV002060911 RCV004026864

NM_003611.3(OFD1):c.2600-4T>G

SNV
Germline

ChrX:13767123

Conflicting classifications of pathogenicity

Orofaciodigital syndrome I
Joubert syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10352056

rs_753195130

2 SubmittersRCV001511002 RCV004721659

NM_003611.3(OFD1):c.569G>A (p.Arg190His)

SNV
Germline

ChrX:13746370

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10351646

rs_150560046

2 SubmittersRCV001520548 RCV004027844

NM_003611.3(OFD1):c.1961G>A (p.Arg654Gln)

SNV
Germline

ChrX:13760421

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Orofaciodigital syndrome I

Criteria Provided
Conflicting Classifications

CA10351912

rs_746612831

2 SubmittersRCV000899438 RCV002065676

NM_003611.3(OFD1):c.565C>T (p.Gln189Ter)

SNV
Germline

ChrX:13746366

Pathogenic

Joubert syndrome
Orofaciodigital syndrome I

Criteria Provided
Single Submitter

CA412337033

rs_2047298129

1 SubmittersRCV001054764

NM_003611.3(OFD1):c.2669G>A (p.Arg890Gln)

SNV
Germline

ChrX:13767196

Conflicting classifications of pathogenicity

Rare genetic intellectual disability
Primary ciliary dyskinesia
Joubert syndrome
Orofaciodigital syndrome I
not specified

Criteria Provided
Conflicting Classifications

CA10352061

rs_748643730

4 SubmittersRCV001257024 RCV004035368 RCV003770338 RCV004800761

NM_003611.3(OFD1):c.2176C>T (p.Arg726Cys)

SNV
Germline

ChrX:13760636

Conflicting classifications of pathogenicity

Joubert syndrome 10
Joubert syndrome
Orofaciodigital syndrome I
Retinitis pigmentosa 23
Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
Orofaciodigital syndrome I

Criteria Provided
Conflicting Classifications

CA412344682

rs_1260959326

3 SubmittersRCV001262142 RCV003770364 RCV005040107

NM_003611.3(OFD1):c.1640A>G (p.Lys547Arg)

SNV
Unknown

ChrX:13758434

Likely pathogenic

Orofaciodigital syndrome I

Criteria Provided
Single Submitter

CA412343482

rs_2047796952

1 SubmittersRCV001331084

NM_003611.3(OFD1):c.111+2T>G

SNV
Germline

ChrX:13735348

Pathogenic

Joubert syndrome
Orofaciodigital syndrome I

Criteria Provided
Single Submitter

CA412331964

rs_312262809

1 SubmittersRCV001380141

NM_003611.3(OFD1):c.1015G>A (p.Glu339Lys)

SNV
Germline

ChrX:13751328

Conflicting classifications of pathogenicity

OFD1-related disorder
Condition: not provided
Joubert syndrome
Orofaciodigital syndrome I
Joubert syndrome 10
Simpson-Golabi-Behmel syndrome type 2
Orofaciodigital syndrome I
Retinitis pigmentosa 23

Criteria Provided
Conflicting Classifications

CA412339937

rs_1374240720

4 SubmittersRCV004540312 RCV003442882 RCV001430906 RCV005040281

NM_003611.3(OFD1):c.494C>T (p.Ser165Leu)

SNV
Germline

ChrX:13744496

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Joubert syndrome 10
Simpson-Golabi-Behmel syndrome type 2
Orofaciodigital syndrome I
Retinitis pigmentosa 23
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10351619

rs_756793358

3 SubmittersRCV001517035 RCV002501798 RCV004037941

NM_003611.3(OFD1):c.1742G>A (p.Cys581Tyr)

SNV
Germline

ChrX:13760202

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia
OFD1-related disorder

Criteria Provided
Conflicting Classifications

CA10351884

rs_201230660

3 SubmittersRCV001521664 RCV004037954 RCV004738329

NM_003611.3(OFD1):c.1411+1G>A

SNV
Germline

ChrX:13756768

Pathogenic

Orofaciodigital syndrome I
Joubert syndrome 10
Simpson-Golabi-Behmel syndrome type 2
Retinitis pigmentosa 23

Criteria Provided
Single Submitter

CA412342954

rs_2147027077

1 SubmittersRCV001535950

NM_003611.3(OFD1):c.2078G>A (p.Gly693Glu)

SNV
Germline

ChrX:13760538

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Joubert syndrome
Orofaciodigital syndrome I

Criteria Provided
Conflicting Classifications

CA10351928

rs_754615597

4 SubmittersRCV001572305 RCV001821904 RCV001866038

NM_003611.3(OFD1):c.1030C>T (p.Arg344Ter)

SNV
Germline

ChrX:13751343

Conflicting classifications of pathogenicity

Joubert syndrome 10
Simpson-Golabi-Behmel syndrome type 2
Condition: not provided
Joubert syndrome 10
Joubert syndrome
Orofaciodigital syndrome I

Criteria Provided
Conflicting Classifications

CA10351732

rs_758903488

5 SubmittersRCV001726720 RCV003130543 RCV002471136 RCV002538677

NM_003611.3(OFD1):c.2223A>G (p.Lys741=)

SNV
Germline

ChrX:13760683

Conflicting classifications of pathogenicity

Condition: not provided
Orofaciodigital syndrome I
Joubert syndrome
Primary ciliary dyskinesia
OFD1-related disorder

Criteria Provided
Conflicting Classifications

CA515624183

rs_1355239331

4 SubmittersRCV001758295 RCV002077186 RCV004040083 RCV004738366

NM_003611.3(OFD1):c.656T>G (p.Leu219Trp)

SNV
Germline

ChrX:13746781

Conflicting classifications of pathogenicity

Condition: not provided
Orofaciodigital syndrome I
Joubert syndrome
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10351669

rs_780055525

3 SubmittersRCV001771053 RCV001861107 RCV004040147

NM_003611.3(OFD1):c.2488+1G>A

SNV
Germline

ChrX:13762445

Likely pathogenic

Orofaciodigital syndrome I

Criteria Provided
Single Submitter

CA412345389

rs_2147060461

1 SubmittersRCV001808142

NM_003611.3(OFD1):c.2726G>A (p.Arg909Gln)

SNV
Germline

ChrX:13767253

Conflicting classifications of pathogenicity

not specified
Orofaciodigital syndrome I
Joubert syndrome
Joubert syndrome 10
Orofaciodigital syndrome I
Simpson-Golabi-Behmel syndrome type 2
Retinitis pigmentosa 23
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10352070

rs_371848382

4 SubmittersRCV001817300 RCV002074279 RCV005040396 RCV004040963

NM_003611.3(OFD1):c.2505A>G (p.Pro835=)

SNV
Germline

ChrX:13763761

Conflicting classifications of pathogenicity

not specified
Orofaciodigital syndrome I
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA10352028

rs_759468353

2 SubmittersRCV001820572 RCV002542636

NM_003611.3(OFD1):c.1205G>A (p.Arg402His)

SNV
Germline

ChrX:13755226

Conflicting classifications of pathogenicity

Orofaciodigital syndrome I
Joubert syndrome
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA412342432

rs_1283023888

2 SubmittersRCV001892845 RCV004822950

NM_003611.3(OFD1):c.1699G>A (p.Asp567Asn)

SNV
Germline

ChrX:13760159

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Intellectual disability

Criteria Provided
Conflicting Classifications

CA10351879

rs_760663674

2 SubmittersRCV001872156 RCV005626517

NM_003611.3(OFD1):c.1128A>C (p.Lys376Asn)

SNV
Germline

ChrX:13753440

Conflicting classifications of pathogenicity

Orofaciodigital syndrome I
Joubert syndrome
not specified
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10351751

rs_758883184

3 SubmittersRCV001905376 RCV003987921 RCV004822943

NM_003611.3(OFD1):c.1837A>G (p.Thr613Ala)

SNV
Germline

ChrX:13760297

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
OFD1-related disorder
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10351895

rs_775062213

3 SubmittersRCV002086032 RCV004531349 RCV004045760

NM_003611.3(OFD1):c.2708A>T (p.Glu903Val)

SNV
Germline

ChrX:13767235

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10352068

rs_761100130

2 SubmittersRCV002114734 RCV004046547

NM_003611.3(OFD1):c.3027C>G (p.Asp1009Glu)

SNV
Germline

ChrX:13769096

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia
Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
Retinitis pigmentosa 23
Orofaciodigital syndrome I

Criteria Provided
Conflicting Classifications

CA10352147

rs_758646234

3 SubmittersRCV002121294 RCV004046541 RCV005042739

NM_003611.3(OFD1):c.345T>G (p.Ile115Met)

SNV
Germline

ChrX:13738878

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10351576

rs_751918276

2 SubmittersRCV002218623 RCV004045640

NM_003611.3(OFD1):c.1703G>A (p.Arg568His)

SNV
Germline

ChrX:13760163

Conflicting classifications of pathogenicity

Orofaciodigital syndrome I
Joubert syndrome
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA10351880

rs_376012267

3 SubmittersRCV002076640 RCV003481258 RCV003889018

NM_003611.3(OFD1):c.2101C>T (p.Gln701Ter)

SNV
Germline

ChrX:13760561

Pathogenic

Orofaciodigital syndrome I
Joubert syndrome

Criteria Provided
Single Submitter

CA412344522

rs_2518940054

1 SubmittersRCV003064670

NM_003611.3(OFD1):c.1879T>C (p.Phe627Leu)

SNV
Germline

ChrX:13760339

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10351902

rs_752808249

2 SubmittersRCV003064381 RCV005445763

NM_003611.3(OFD1):c.2940G>C (p.Lys980Asn)

SNV
Germline

ChrX:13768729

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia
Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
Orofaciodigital syndrome I
Retinitis pigmentosa 23

Criteria Provided
Conflicting Classifications

CA10352116

rs_762218314

3 SubmittersRCV003076358 RCV004823092 RCV005045213

NM_003611.3(OFD1):c.1300A>G (p.Met434Val)

SNV
Germline

ChrX:13756656

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA412342682

rs_1191893961

2 SubmittersRCV002598892 RCV005455703

NM_003611.3(OFD1):c.2489-13G>A

SNV
Germline

ChrX:13763732

Conflicting classifications of pathogenicity

Orofaciodigital syndrome I
Joubert syndrome
Simpson-Golabi-Behmel syndrome type 2
Retinitis pigmentosa 23
Orofaciodigital syndrome I
Joubert syndrome 10

Criteria Provided
Conflicting Classifications

CA10352024

rs_377737395

2 SubmittersRCV002602865 RCV005045321

NM_003611.3(OFD1):c.2372C>T (p.Pro791Leu)

SNV
Germline

ChrX:13761196

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Retinal dystrophy
Primary ciliary dyskinesia
Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
Retinitis pigmentosa 23
Orofaciodigital syndrome I

Criteria Provided
Conflicting Classifications

CA10351984

rs_753498008

4 SubmittersRCV002625211 RCV003889261 RCV004823119 RCV005045360

NM_003611.3(OFD1):c.2388-1G>A

SNV
Germline

ChrX:13762343

Likely pathogenic

Joubert syndrome
Orofaciodigital syndrome I

Criteria Provided
Single Submitter

CA10352003

rs_750227810

1 SubmittersRCV002596430

NM_003611.3(OFD1):c.2672G>A (p.Arg891Lys)

SNV
Germline

ChrX:13767199

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia
Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
Retinitis pigmentosa 23
Orofaciodigital syndrome I

Criteria Provided
Conflicting Classifications

CA10352062

rs_769469366

3 SubmittersRCV002589811 RCV004823043 RCV005042887

NM_003611.3(OFD1):c.1809G>T (p.Met603Ile)

SNV
Germline

ChrX:13760269

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10351894

rs_771742424

2 SubmittersRCV002625973 RCV004065845

NM_003611.3(OFD1):c.2508G>A (p.Arg836=)

SNV
Germline

ChrX:13763764

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
OFD1-related disorder

Criteria Provided
Conflicting Classifications

CA515466785

rs_2048023499

2 SubmittersRCV002700889 RCV004529165

NM_003611.3(OFD1):c.2395C>T (p.Arg799Ter)

SNV
Germline

ChrX:13762351

Pathogenic

Joubert syndrome
Orofaciodigital syndrome I

Criteria Provided
Single Submitter

CA412345169

rs_2518959653

1 SubmittersRCV002862271

NM_003611.3(OFD1):c.2928+7G>A

SNV
Germline

ChrX:13768231

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
Retinitis pigmentosa 23
Orofaciodigital syndrome I

Criteria Provided
Conflicting Classifications

CA326115577

rs_912239987

2 SubmittersRCV003002712 RCV005045149

NM_003611.3(OFD1):c.1743C>A (p.Cys581Ter)

SNV
Germline

ChrX:13760203

Pathogenic

Orofaciodigital syndrome I
Joubert syndrome

Criteria Provided
Single Submitter

CA412343725

rs_983722470

1 SubmittersRCV003055752

NM_003611.3(OFD1):c.2647C>T (p.Arg883Trp)

SNV
Germline

ChrX:13767174

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Joubert syndrome
Orofaciodigital syndrome I
Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
Retinitis pigmentosa 23
Orofaciodigital syndrome I

Criteria Provided
Conflicting Classifications

CA10352059

rs_149790559

3 SubmittersRCV004081054 RCV003777590 RCV005045378

NM_003611.3(OFD1):c.2778G>T (p.Leu926=)

SNV
Germline

ChrX:13768074

Conflicting classifications of pathogenicity

Condition: not provided
Primary ciliary dyskinesia
Joubert syndrome
Orofaciodigital syndrome I

Criteria Provided
Conflicting Classifications

CA515457490

rs_2518998297

3 SubmittersRCV003133109 RCV004636716 RCV003778738

NM_003611.3(OFD1):c.112-11T>G

SNV
Germline

ChrX:13736467

Pathogenic

Orofaciodigital syndrome I

Criteria Provided
Single Submitter

CA2580100350

rs_180882901

1 SubmittersRCV003223605

NM_003611.3(OFD1):c.313-1G>T

SNV
Germline

ChrX:13738845

Likely pathogenic

Orofaciodigital syndrome I

Criteria Provided
Single Submitter

CA412333590

rs_2518776413

1 SubmittersRCV003232908

NM_003611.3(OFD1):c.2758-2A>T

SNV
Germline

ChrX:13768052

Conflicting classifications of pathogenicity

not specified
OFD1-related disorder
Joubert syndrome
Orofaciodigital syndrome I

Criteria Provided
Conflicting Classifications

CA412312310

rs_1254987046

3 SubmittersRCV003317841 RCV004529622 RCV005216045

NM_003611.3(OFD1):c.1190A>G (p.Asn397Ser)

SNV
Germline

ChrX:13755211

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

CA10351776

rs_755523044

2 SubmittersRCV003787160 RCV004823210

NM_003611.3(OFD1):c.2261G>A (p.Gly754Asp)

SNV
Germline

ChrX:13761085

Conflicting classifications of pathogenicity

Orofaciodigital syndrome I
Joubert syndrome
Simpson-Golabi-Behmel syndrome type 2
Retinitis pigmentosa 23
Joubert syndrome 10
Orofaciodigital syndrome I

Criteria Provided
Conflicting Classifications

CA10351975

rs_190688700

2 SubmittersRCV003786619 RCV005040505

NM_003611.3(OFD1):c.1927G>T (p.Glu643Ter)

SNV
Germline

ChrX:13760387

Pathogenic

Joubert syndrome
Orofaciodigital syndrome I

Criteria Provided
Single Submitter

CA412344134

rs_1397283663

1 SubmittersRCV003803794

NM_003611.3(OFD1):c.1114G>T (p.Glu372Ter)

SNV
Germline

ChrX:13753426

Pathogenic

Joubert syndrome
Orofaciodigital syndrome I

Criteria Provided
Single Submitter

CA412341900

rs_2518886198

1 SubmittersRCV003795182

NM_003611.3(OFD1):c.935+1G>C

SNV
Germline

ChrX:13749534

Pathogenic

Joubert syndrome
Orofaciodigital syndrome I

Criteria Provided
Single Submitter

CA412339144

rs_2518857883

1 SubmittersRCV003809322

NM_003611.3(OFD1):c.1513C>T (p.Gln505Ter)

SNV
Germline

ChrX:13757761

Likely pathogenic

Orofaciodigital syndrome I

Criteria Provided
Single Submitter

1 SubmittersRCV004598363

NM_003611.3(OFD1):c.2620G>T (p.Glu874Ter)

SNV
Germline

ChrX:13767147

Pathogenic

Orofaciodigital syndrome I

Criteria Provided
Single Submitter

1 SubmittersRCV004788262

NM_003611.3(OFD1):c.1370A>T (p.Gln457Leu)

SNV
Germline

ChrX:13756726

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Joubert syndrome
Orofaciodigital syndrome I

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004821552 RCV005218359

NM_003611.3(OFD1):c.1055+1G>T

SNV
Germline

ChrX:13751369

Likely pathogenic

Joubert syndrome 10
Simpson-Golabi-Behmel syndrome type 2
Retinitis pigmentosa 23
Orofaciodigital syndrome I

Criteria Provided
Single Submitter

1 SubmittersRCV005049286

NM_003611.3(OFD1):c.1559A>G (p.Gln520Arg)

SNV
Germline

ChrX:13758353

Conflicting classifications of pathogenicity

Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
Orofaciodigital syndrome I
Retinitis pigmentosa 23
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005041624 RCV005448058

NM_003611.3(OFD1):c.1804C>T (p.Arg602Cys)

SNV
Germline

ChrX:13760264

Conflicting classifications of pathogenicity

Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
Orofaciodigital syndrome I
Retinitis pigmentosa 23
Joubert syndrome
Orofaciodigital syndrome I

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005041629 RCV005218418

NM_003611.3(OFD1):c.1540G>A (p.Glu514Lys)

SNV
Germline

ChrX:13757788

Conflicting classifications of pathogenicity

Joubert syndrome
Orofaciodigital syndrome I
Primary ciliary dyskinesia

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005223379 RCV005458018

NM_003611.3(OFD1):c.2489-2A>C

SNV
Germline

ChrX:13763743