Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001134831.2(AHI1):c.1051C>T (p.Arg351Ter)	SNV Germline	Chr6:135457594	Pathogenic	Joubert syndrome 3 Joubert syndrome	Criteria Provided Multiple Submitters No Conflicts	CA252041	rs_121434348	4 SubmittersRCV000002087 RCV001058641
NM_001134831.2(AHI1):c.1303C>T (p.Arg435Ter)	SNV Germline	Chr6:135455775	Pathogenic	Joubert syndrome 3 Joubert syndrome	Criteria Provided Single Submitter	CA252043	rs_121434349	2 SubmittersRCV000002088 RCV003495105
NM_001134831.2(AHI1):c.1328T>A (p.Val443Asp)	SNV Germline	Chr6:135455750	Pathogenic/Likely pathogenic	Joubert syndrome 3 Global developmental delay Typical Joubert syndrome MRI findings	Criteria Provided Multiple Submitters No Conflicts	CA249938	rs_121434350	4 SubmittersRCV000002089 RCV000162132
NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter)	SNV Germline	Chr6:135447022	Pathogenic	Joubert syndrome 3 Condition: not provided Rod-cone dystrophy Joubert syndrome	Criteria Provided Multiple Submitters No Conflicts	CA252046	rs_267606641	8 SubmittersRCV000002091 RCV000522479 RCV001376341 RCV001380010
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln)	SNV Germline	Chr6:135433125	Conflicting classifications of pathogenicity	Joubert syndrome 3 Joubert syndrome Joubert syndrome with ocular defect Condition: not provided AHI1-related disorder	Criteria Provided Conflicting Classifications	CA252048	rs_121434351	11 SubmittersRCV000002092 RCV000463110 RCV001172382 RCV001582460 RCV004752680
NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter)	SNV Germline	Chr6:135457660	Pathogenic	Joubert syndrome 3 Condition: not provided Retinal dystrophy Joubert syndrome with ocular defect Joubert syndrome Retinitis pigmentosa 40	Criteria Provided Multiple Submitters No Conflicts	CA259900	rs_201391050	7 SubmittersRCV000023739 RCV000255060 RCV001074225 RCV001172379 RCV001390240 RCV006698004
NM_001134831.2(AHI1):c.1484G>A (p.Arg495His)	SNV Germline	Chr6:135448432	Pathogenic	Joubert syndrome 3 Joubert syndrome	Criteria Provided Single Submitter	CA259902	rs_387907003	2 SubmittersRCV000023740 RCV002513203
NM_001134831.2(AHI1):c.1052G>T (p.Arg351Leu)	SNV Germline	Chr6:135457593	Pathogenic	Joubert syndrome 3	Criteria Provided Single Submitter	CA264217	rs_397514726	2 SubmittersRCV000054427
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter)	SNV Germline	Chr6:135433119	Pathogenic/Likely pathogenic	Joubert syndrome 3 Retinitis pigmentosa Condition: not provided Joubert syndrome Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA270780	rs_587783013	10 SubmittersRCV000144464 RCV000678521 RCV001698972 RCV003495112 RCV001262092
NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu)	SNV Germline	Chr6:135431299	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome 3 Joubert syndrome	Criteria Provided Conflicting Classifications	CA240759	rs_794727174	6 SubmittersRCV000175088 RCV000185588 RCV001053820
NM_001134831.2(AHI1):c.2808A>G (p.Thr936=)	SNV Germline	Chr6:135411501	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome not specified	Criteria Provided Conflicting Classifications	CA241966	rs_373772212	5 SubmittersRCV000176103 RCV001396553 RCV001698990
NM_001134831.2(AHI1):c.1033T>A (p.Leu345Met)	SNV Germline	Chr6:135457612	Conflicting classifications of pathogenicity	not specified Condition: not provided Joubert syndrome 3 Joubert syndrome Inborn genetic diseases Retinal dystrophy	Criteria Provided Conflicting Classifications	CA247748	rs_200927282	7 SubmittersRCV000250813 RCV000724880 RCV001155546 RCV001206260 RCV002517761 RCV004816310
NM_001134831.2(AHI1):c.1157G>A (p.Arg386Gln)	SNV Germline	Chr6:135455921	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome Inborn genetic diseases Joubert syndrome 3	Criteria Provided Conflicting Classifications	CA248175	rs_371243793	5 SubmittersRCV000724597 RCV001226983 RCV004020179 RCV005031718
NM_001134831.2(AHI1):c.2087A>G (p.His696Arg)	SNV Germline	Chr6:135433206	Likely pathogenic	Joubert syndrome 3 Retinitis pigmentosa	Criteria Provided Single Submitter	CA277462	rs_797045224	2 SubmittersRCV000195247 RCV000504798
NM_001134831.2(AHI1):c.1861G>T (p.Gly621Ter)	SNV Germline	Chr6:135442633	Pathogenic/Likely pathogenic	Joubert syndrome 3 Condition: not provided Joubert syndrome	Criteria Provided Multiple Submitters No Conflicts	CA277278	rs_797045223	4 SubmittersRCV000194226 RCV000599258 RCV000820311
NM_001134831.2(AHI1):c.3418C>T (p.Pro1140Ser)	SNV Germline	Chr6:135318527	Conflicting classifications of pathogenicity	Joubert syndrome not specified Joubert syndrome 3 Intellectual disability Condition: not provided	Criteria Provided Conflicting Classifications	CA335852	rs_201148693	5 SubmittersRCV000195696 RCV000248598 RCV001157001 RCV001252130 RCV001596984
NM_001134831.2(AHI1):c.989A>G (p.Asp330Gly)	SNV Germline	Chr6:135457656	Conflicting classifications of pathogenicity	Joubert syndrome not specified Joubert syndrome 3 Condition: not provided Inborn genetic diseases AHI1-related disorder Cholangiocarcinoma Lung cancer	Criteria Provided Conflicting Classifications	CA338680	rs_200201741	9 SubmittersRCV000199507 RCV000346238 RCV001157230 RCV001576697 RCV002517286 RCV003927849 RCV005893571 RCV005893572
NM_001134831.2(AHI1):c.2705T>A (p.Val902Asp)	SNV Germline	Chr6:135427226	Conflicting classifications of pathogenicity	Joubert syndrome 3 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA277806	rs_368788993	3 SubmittersRCV000201756 RCV005237713 RCV005645035
NM_001134831.2(AHI1):c.2687A>G (p.His896Arg)	SNV Germline	Chr6:135427244	Pathogenic/Likely pathogenic	Joubert syndrome 3 Condition: not provided Joubert syndrome AHI1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA279374	rs_863225135	6 SubmittersRCV000201566 RCV001091216 RCV001240194 RCV003407712
NM_001134831.2(AHI1):c.2495T>G (p.Leu832Ter)	SNV Germline	Chr6:135428757	Pathogenic/Likely pathogenic	Joubert syndrome 3 Joubert syndrome and related disorders	Criteria Provided Multiple Submitters No Conflicts	CA279357	rs_863225131	2 SubmittersRCV000201542 RCV003114363
NM_001134831.2(AHI1):c.2361G>T (p.Trp787Cys)	SNV Unknown	Chr6:135431220	Pathogenic	Joubert syndrome 3	Criteria Provided Single Submitter	CA279355	rs_863225146	1 SubmittersRCV000201540
NM_001134831.2(AHI1):c.2297G>A (p.Gly766Glu)	SNV Germline	Chr6:135431284	Pathogenic/Likely pathogenic	Joubert syndrome 3 Joubert syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA279563	rs_863225139	3 SubmittersRCV000201786 RCV003495118 RCV006555666
NM_001134831.2(AHI1):c.2212C>T (p.Arg738Ter)	SNV Germline	Chr6:135433081	Pathogenic/Likely pathogenic	Joubert syndrome 3 Condition: not provided Retinitis pigmentosa Joubert syndrome	Criteria Provided Multiple Submitters No Conflicts	CA277726	rs_372659908	7 SubmittersRCV000201604 RCV000255574 RCV001002863 RCV001387494
NM_001134831.2(AHI1):c.2173T>C (p.Trp725Arg)	SNV Germline	Chr6:135433120	Conflicting classifications of pathogenicity	Joubert syndrome 3 Joubert syndrome Condition: not provided not specified Retinal dystrophy	Criteria Provided Conflicting Classifications	CA279352	rs_863225144	5 SubmittersRCV000201537 RCV000817125 RCV003237762 RCV003235125 RCV004816344
NM_001134831.2(AHI1):c.2156A>G (p.Asp719Gly)	SNV Germline	Chr6:135433137	Pathogenic/Likely pathogenic	Joubert syndrome 3 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA279368	rs_863225134	2 SubmittersRCV000201556 RCV000497534
NM_001134831.2(AHI1):c.2036+1G>T	SNV Unknown	Chr6:135438374	Pathogenic	Joubert syndrome 3	Criteria Provided Single Submitter	CA277734	rs_776093293	1 SubmittersRCV000201625
NM_001134831.2(AHI1):c.2023G>A (p.Asp675Asn)	SNV Unknown	Chr6:135438388	Pathogenic	Joubert syndrome 3	Criteria Provided Single Submitter	CA279503	rs_863225145	1 SubmittersRCV000201721
NM_001134831.2(AHI1):c.2012C>T (p.Thr671Ile)	SNV Germline	Chr6:135438399	Pathogenic/Likely pathogenic	Joubert syndrome 3 Condition: not provided Joubert syndrome	Criteria Provided Multiple Submitters No Conflicts	CA277741	rs_772989270	3 SubmittersRCV000201635 RCV001731519 RCV003495117
NM_001134831.2(AHI1):c.1997A>T (p.Asp666Val)	SNV Germline	Chr6:135438414	Pathogenic/Likely pathogenic	Joubert syndrome 3 Condition: not provided Joubert syndrome	Criteria Provided Multiple Submitters No Conflicts	CA279428	rs_863225147	3 SubmittersRCV000201632 RCV000414742 RCV001051208
NM_001134831.2(AHI1):c.1976A>T (p.Asp659Val)	SNV Germline	Chr6:135438435	Pathogenic	Joubert syndrome 3 Joubert syndrome	Criteria Provided Multiple Submitters No Conflicts	CA277783	rs_541041911	2 SubmittersRCV000201711 RCV001853231
NM_001134831.2(AHI1):c.1917T>A (p.Tyr639Ter)	SNV Unknown	Chr6:135438494	Pathogenic	Joubert syndrome 3	Criteria Provided Single Submitter	CA277799	rs_764412921	1 SubmittersRCV000201738
NM_001134831.2(AHI1):c.1626+1G>A	SNV Germline	Chr6:135448289	Pathogenic/Likely pathogenic	Joubert syndrome 3 Joubert syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA279376	rs_863225137	3 SubmittersRCV000201568 RCV001064139 RCV002277553
NM_001134831.2(AHI1):c.1516C>T (p.Arg506Ter)	SNV Germline	Chr6:135448400	Pathogenic	Joubert syndrome 3 Joubert syndrome Joubert syndrome and related disorders	Criteria Provided Multiple Submitters No Conflicts	CA277801	rs_371637724	4 SubmittersRCV000201739 RCV000702666 RCV004767145
NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter)	SNV Germline	Chr6:135455811	Pathogenic	Joubert syndrome 3 Joubert syndrome Condition: not provided Retinal dystrophy Nephronophthisis Rod-cone dystrophy Joubert syndrome and related disorders	Criteria Provided Multiple Submitters No Conflicts	CA339611	rs_777668842	9 SubmittersRCV000201715 RCV000206729 RCV000482493 RCV001074545 RCV001328119 RCV001376375 RCV003317148
NM_001134831.2(AHI1):c.1260G>A (p.Trp420Ter)	SNV Germline	Chr6:135455818	Pathogenic	Joubert syndrome 3 Joubert syndrome Condition: not provided Joubert syndrome and related disorders	Criteria Provided Multiple Submitters No Conflicts	CA279421	rs_863225143	6 SubmittersRCV000201621 RCV001853230 RCV004719748 RCV005237712
NM_001134831.2(AHI1):c.1152-2A>G	SNV Germline	Chr6:135455928	Pathogenic	Joubert syndrome 3 Joubert syndrome	Criteria Provided Multiple Submitters No Conflicts	CA277693	rs_753085250	2 SubmittersRCV000201545 RCV003495116
NM_001134831.2(AHI1):c.1115A>G (p.Asp372Gly)	SNV Unknown	Chr6:135457530	Pathogenic	Joubert syndrome 3	Criteria Provided Single Submitter	CA279507	rs_863225133	1 SubmittersRCV000201728
NM_001134831.2(AHI1):c.736A>T (p.Lys246Ter)	SNV Germline	Chr6:135465827	Pathogenic	Joubert syndrome 3 See cases Joubert syndrome and related disorders	Criteria Provided Multiple Submitters No Conflicts	CA279546	rs_863225142	4 SubmittersRCV000201760 RCV002287391 RCV003330575
NM_001134831.2(AHI1):c.662C>G (p.Ser221Ter)	SNV Germline	Chr6:135465901	Pathogenic	Joubert syndrome 3 Joubert syndrome and related disorders Joubert syndrome	Criteria Provided Multiple Submitters No Conflicts	CA279475	rs_863225138	4 SubmittersRCV000201668 RCV002469064 RCV003765300
NM_001134831.2(AHI1):c.-140+1G>T	SNV Germline	Chr6:135497187	Conflicting classifications of pathogenicity	Condition: not provided not specified AHI1-related disorder	Criteria Provided Conflicting Classifications	CA10581400	rs_145372075	3 SubmittersRCV000224887 RCV000420430 RCV003897509
NM_001134831.2(AHI1):c.2492+15G>A	SNV Germline	Chr6:135429867	Conflicting classifications of pathogenicity	not specified Joubert syndrome 3 Joubert syndrome	Criteria Provided Conflicting Classifications	CA4012364	rs_535243555	3 SubmittersRCV000249134 RCV001157118 RCV002058268
NM_001134831.2(AHI1):c.2382A>G (p.Lys794=)	SNV Germline	Chr6:135429992	Conflicting classifications of pathogenicity	not specified Joubert syndrome 3 Joubert syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA4012382	rs_191682790	5 SubmittersRCV000249053 RCV001157121 RCV001462053 RCV001705372
NM_001134831.2(AHI1):c.2299G>T (p.Val767Leu)	SNV Germline	Chr6:135431282	Conflicting classifications of pathogenicity	not specified Joubert syndrome Retinal dystrophy Joubert syndrome 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA4012400	rs_755688765	5 SubmittersRCV000249307 RCV001034978 RCV004816458 RCV005031834 RCV005251108
NM_001134831.2(AHI1):c.2493-2A>G	SNV Germline	Chr6:135428761	Pathogenic/Likely pathogenic	Condition: not provided Joubert syndrome 3	Criteria Provided Multiple Submitters No Conflicts	CA10588410	rs_886039465	2 SubmittersRCV000255603 RCV005044513
NM_001134831.2(AHI1):c.986G>T (p.Arg329Leu)	SNV Germline	Chr6:135457659	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome Joubert syndrome 3 AHI1-related disorder	Criteria Provided Conflicting Classifications	CA4012693	rs_139944375	6 SubmittersRCV000313832 RCV000357466 RCV001095106 RCV003930096
NM_001134831.2(AHI1):c.2294C>T (p.Thr765Ile)	SNV Germline	Chr6:135431287	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome Joubert syndrome 3	Criteria Provided Conflicting Classifications	CA4012402	rs_200017073	3 SubmittersRCV000366873 RCV001049633 RCV002502139
NM_001134831.2(AHI1):c.3159A>T (p.Ala1053=)	SNV Germline	Chr6:135358138	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome	Criteria Provided Conflicting Classifications	CA4012098	rs_143485622	2 SubmittersRCV000348115 RCV001424639
NM_001134831.2(AHI1):c.3542G>A (p.Arg1181Gln)	SNV Germline	Chr6:135290469	Conflicting classifications of pathogenicity	Joubert syndrome 3 Joubert syndrome Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA4011958	rs_200368187	4 SubmittersRCV000310232 RCV001309958 RCV002523549 RCV004591129
NM_001134831.2(AHI1):c.2784A>T (p.Glu928Asp)	SNV Germline	Chr6:135411525	Conflicting classifications of pathogenicity	Joubert syndrome 3 Joubert syndrome not specified	Criteria Provided Conflicting Classifications	CA4012263	rs_538724792	3 SubmittersRCV000263339 RCV002058557 RCV001821082
NM_001134831.2(AHI1):c.2765-9T>C	SNV Germline	Chr6:135411553	Conflicting classifications of pathogenicity	Joubert syndrome Joubert syndrome 3 AHI1-related disorder	Criteria Provided Conflicting Classifications	CA10623025	rs_374852342	3 SubmittersRCV000316321 RCV001095063 RCV004752876
NM_001134831.2(AHI1):c.73G>A (p.Asp25Asn)	SNV Germline	Chr6:135490685	Conflicting classifications of pathogenicity	Joubert syndrome 3 Condition: not provided Joubert syndrome	Criteria Provided Conflicting Classifications	CA4012962	rs_201590073	3 SubmittersRCV000367907 RCV000998690 RCV001225876
NM_001134831.2(AHI1):c.2814A>G (p.Pro938=)	SNV Germline	Chr6:135411495	Conflicting classifications of pathogenicity	Joubert syndrome 3 Joubert syndrome	Criteria Provided Conflicting Classifications	CA4012259	rs_775305093	2 SubmittersRCV000355866 RCV003597974
NM_001134831.2(AHI1):c.282G>A (p.Thr94=)	SNV Germline	Chr6:135466281	Conflicting classifications of pathogenicity	Joubert syndrome 3 Joubert syndrome	Criteria Provided Conflicting Classifications	CA4012856	rs_760858792	2 SubmittersRCV000331656 RCV001464785
NM_001134831.2(AHI1):c.3486-4A>G	SNV Germline	Chr6:135290529	Conflicting classifications of pathogenicity	Joubert syndrome 3 Joubert syndrome	Criteria Provided Conflicting Classifications	CA4011968	rs_534053819	2 SubmittersRCV000362625 RCV001462127
NM_001134831.2(AHI1):c.1788T>C (p.Arg596=)	SNV Germline	Chr6:135442706	Conflicting classifications of pathogenicity	Joubert syndrome 3 Joubert syndrome	Criteria Provided Conflicting Classifications	CA4012505	rs_548478362	2 SubmittersRCV000346082 RCV001850882
NM_001134831.2(AHI1):c.1680A>G (p.Pro560=)	SNV Germline	Chr6:135447107	Conflicting classifications of pathogenicity	Joubert syndrome 3 Condition: not provided Joubert syndrome	Criteria Provided Conflicting Classifications	CA4012546	rs_200949030	4 SubmittersRCV000301551 RCV000592685 RCV001514341
NM_001134831.2(AHI1):c.1311T>G (p.Ser437=)	SNV Germline	Chr6:135455767	Conflicting classifications of pathogenicity	Joubert syndrome 3 Joubert syndrome	Criteria Provided Conflicting Classifications	CA10626076	rs_886061112	2 SubmittersRCV000390774 RCV005055927
NM_001134831.2(AHI1):c.2831A>G (p.Gln944Arg)	SNV Germline	Chr6:135411478	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome Inborn genetic diseases Optic atrophy	Criteria Provided Conflicting Classifications	CA4012255	rs_142704960	4 SubmittersRCV000429829 RCV000549669 RCV002524707 RCV004816653
NM_001134831.2(AHI1):c.3033A>G (p.Ser1011=)	SNV Germline	Chr6:135394852	Conflicting classifications of pathogenicity	not specified Joubert syndrome Joubert syndrome 3	Criteria Provided Conflicting Classifications	CA4012185	rs_372030704	3 SubmittersRCV000433769 RCV000863967 RCV001154601
NM_001134831.2(AHI1):c.2609G>A (p.Trp870Ter)	SNV Germline	Chr6:135428643	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA16604857	rs_1057524843	1 SubmittersRCV000426607
NM_001134831.2(AHI1):c.1533T>G (p.Val511=)	SNV Germline	Chr6:135448383	Conflicting classifications of pathogenicity	not specified Joubert syndrome Joubert syndrome 3	Criteria Provided Conflicting Classifications	CA4012570	rs_373669500	4 SubmittersRCV000429239 RCV000468650 RCV002488945
NM_001134831.2(AHI1):c.493G>A (p.Val165Ile)	SNV Germline	Chr6:135466070	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4012820	rs_755936005	3 SubmittersRCV000418241 RCV001865374 RCV006659468
NM_001134831.2(AHI1):c.400C>T (p.Pro134Ser)	SNV Germline	Chr6:135466163	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome Joubert syndrome 3 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4012837	rs_368077581	4 SubmittersRCV000427341 RCV000527501 RCV001151771 RCV004975505
NM_001134831.2(AHI1):c.3503A>G (p.Glu1168Gly)	SNV Germline	Chr6:135290508	Conflicting classifications of pathogenicity	not specified Joubert syndrome 3 Joubert syndrome Intellectual disability Condition: not provided AHI1-related disorder Retinal dystrophy	Criteria Provided Conflicting Classifications	CA4011964	rs_199578341	10 SubmittersRCV000445026 RCV000764640 RCV000701724 RCV001252129 RCV003431002 RCV003932665 RCV004816662
NM_001134831.2(AHI1):c.3196C>T (p.Arg1066Ter)	SNV Germline	Chr6:135323294	Conflicting classifications of pathogenicity	Condition: not provided Retinal dystrophy Joubert syndrome 1 Joubert syndrome Rod-cone dystrophy not specified Joubert syndrome 3	Criteria Provided Conflicting Classifications	CA4012074	rs_780163791	9 SubmittersRCV000424420 RCV001075600 RCV000987784 RCV001047025 RCV001376231 RCV003114537 RCV005044633
NM_001134831.2(AHI1):c.2714G>C (p.Cys905Ser)	SNV Germline	Chr6:135427217	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome Retinal dystrophy not specified AHI1-related disorder Intellectual disability	Criteria Provided Conflicting Classifications	CA4012295	rs_199879855	6 SubmittersRCV000427065 RCV001083343 RCV001074633 RCV003317208 RCV004752894 RCV005625602
NM_001134831.2(AHI1):c.1205C>T (p.Pro402Leu)	SNV Germline	Chr6:135455873	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA16605460	rs_1057524842	1 SubmittersRCV000443953
NM_001134831.2(AHI1):c.1912+5G>T	SNV Germline	Chr6:135442577	Pathogenic	Leber congenital amaurosis	No Assertion Criteria Provided	CA658657626	rs_1554347012	1 SubmittersRCV000515724
NM_001134831.2(AHI1):c.1415G>A (p.Arg472Gln)	SNV Germline	Chr6:135453366	Conflicting classifications of pathogenicity	not specified Condition: not provided Joubert syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4012599	rs_770605375	4 SubmittersRCV000499488 RCV000767140 RCV001238586 RCV002524145
NM_001134831.2(AHI1):c.983G>T (p.Ser328Ile)	SNV Germline	Chr6:135457662	Conflicting classifications of pathogenicity	not specified Condition: not provided Joubert syndrome Joubert syndrome 3 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4012695	rs_777420094	5 SubmittersRCV000502871 RCV000766367 RCV003495140 RCV005034040 RCV005831613
NM_001134831.2(AHI1):c.2429C>T (p.Pro810Leu)	SNV Unknown	Chr6:135429945	Likely pathogenic	Retinitis pigmentosa	No Assertion Criteria Provided	CA365742781	rs_1554338016	1 SubmittersRCV000504989
NM_001134831.2(AHI1):c.653A>G (p.Tyr218Cys)	SNV Germline	Chr6:135465910	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome Joubert syndrome 3 not specified AHI1-related disorder	Criteria Provided Conflicting Classifications	CA4012791	rs_183936286	5 SubmittersRCV000514800 RCV001088814 RCV001157234 RCV002222540 RCV003915428
NM_001134831.2(AHI1):c.221T>A (p.Ile74Asn)	SNV Germline	Chr6:135466342	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome Joubert syndrome 3 Inborn genetic diseases AHI1-related disorder	Criteria Provided Conflicting Classifications	CA4012871	rs_370059449	6 SubmittersRCV000518979 RCV001295361 RCV003139738 RCV004023597 RCV004752934
NM_001134831.2(AHI1):c.83G>A (p.Arg28His)	SNV Germline	Chr6:135490675	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome Joubert syndrome 3	Criteria Provided Conflicting Classifications	CA4012956	rs_36115433	3 SubmittersRCV000522733 RCV002528251 RCV002476066
NM_001134831.2(AHI1):c.2106G>A (p.Thr702=)	SNV Germline	Chr6:135433187	Pathogenic	Joubert syndrome	Criteria Provided Single Submitter	CA452214747	rs_1276908141	1 SubmittersRCV000534772
NM_001134831.2(AHI1):c.708A>G (p.Lys236=)	SNV Germline	Chr6:135465855	Conflicting classifications of pathogenicity	Joubert syndrome Joubert syndrome 3	Criteria Provided Conflicting Classifications	CA4012782	rs_368281930	2 SubmittersRCV000542081 RCV001157233
NM_001134831.2(AHI1):c.2988+6T>C	SNV Germline	Chr6:135404945	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa Joubert syndrome Intellectual disability	Criteria Provided Conflicting Classifications	CA4012199	rs_751303913	4 SubmittersRCV000585422 RCV001199637 RCV005091526 RCV005629854
NM_001134831.2(AHI1):c.3165+1G>A	SNV Germline	Chr6:135358131	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome 3	Criteria Provided Conflicting Classifications	CA365840741	rs_1448108151	2 SubmittersRCV000593380 RCV005034161
NM_001134831.2(AHI1):c.3535G>T (p.Asp1179Tyr)	SNV Germline	Chr6:135290476	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome Joubert syndrome 3 AHI1-related disorder	Criteria Provided Conflicting Classifications	CA4011960	rs_188583221	4 SubmittersRCV000608290 RCV000861193 RCV001157000 RCV003980163
NM_001134831.2(AHI1):c.9A>G (p.Thr3=)	SNV Germline	Chr6:135492229	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome AHI1-related disorder	Criteria Provided Conflicting Classifications	CA4012991	rs_761022642	4 SubmittersRCV001697857 RCV001868049 RCV004752970
NM_001134831.2(AHI1):c.2105C>T (p.Thr702Met)	SNV Germline	Chr6:135433188	Pathogenic/Likely pathogenic	Joubert syndrome Joubert syndrome and related disorders Condition: not provided Joubert syndrome 3	Criteria Provided Multiple Submitters No Conflicts	CA4012440	rs_756276537	5 SubmittersRCV000688299 RCV002298739 RCV003317340 RCV005034295
NM_001134831.2(AHI1):c.1070C>G (p.Ser357Ter)	SNV Germline	Chr6:135457575	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA365747748	rs_1562219266	1 SubmittersRCV000760628
NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter)	SNV Germline	Chr6:135394853	Pathogenic/Likely pathogenic	Condition: not provided Retinal dystrophy Retinitis pigmentosa Joubert syndrome Joubert syndrome 3 Joubert syndrome and related disorders	Criteria Provided Multiple Submitters No Conflicts	CA4012186	rs_777215595	10 SubmittersRCV000762434 RCV001073854 RCV001002862 RCV001237047 RCV001785719 RCV004702399
NM_001134831.2(AHI1):c.2623+1G>T	SNV Germline	Chr6:135428628	Pathogenic	Joubert syndrome 3 Joubert syndrome 1 Joubert syndrome Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA365741985	rs_751823180	5 SubmittersRCV000791182 RCV000987786 RCV001856246 RCV004818031
NM_001134831.2(AHI1):c.1458A>T (p.Gly486=)	SNV Germline	Chr6:135448458	Conflicting classifications of pathogenicity	Joubert syndrome Joubert syndrome 3	Criteria Provided Conflicting Classifications	CA4012587	rs_371835751	2 SubmittersRCV000805329 RCV001155543
NM_001134831.2(AHI1):c.2492+1G>A	SNV Germline	Chr6:135429881	Pathogenic/Likely pathogenic	Joubert syndrome Condition: not provided Joubert syndrome and related disorders Joubert syndrome 3	Criteria Provided Multiple Submitters No Conflicts	CA4012367	rs_187245292	4 SubmittersRCV000819382 RCV000998688 RCV004768701 RCV005036211
NM_001134831.2(AHI1):c.1304G>A (p.Arg435Gln)	SNV Germline	Chr6:135455774	Conflicting classifications of pathogenicity	Joubert syndrome Joubert syndrome 3 Condition: not provided Type 2 diabetes mellitus	Criteria Provided Conflicting Classifications	CA4012624	rs_545841352	4 SubmittersRCV000862128 RCV001155544 RCV002225753 RCV005626241
NM_001134831.2(AHI1):c.3329-7A>G	SNV Germline	Chr6:135318623	Conflicting classifications of pathogenicity	Joubert syndrome Condition: not provided Joubert syndrome 3	Criteria Provided Conflicting Classifications	CA4012037	rs_370808684	3 SubmittersRCV000862144 RCV003148888 RCV005047131
NM_001134831.2(AHI1):c.1779G>T (p.Gln593His)	SNV Unknown	Chr6:135447008	Likely pathogenic	Joubert syndrome 1	Criteria Provided Single Submitter	CA365744706	rs_1583276758	1 SubmittersRCV000987789
NM_001134831.2(AHI1):c.3478A>G (p.Met1160Val)	SNV Germline	Chr6:135300507	Conflicting classifications of pathogenicity	Joubert syndrome Joubert syndrome 3 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4011995	rs_200250333	3 SubmittersRCV001062557 RCV002505633 RCV004619504
NM_001134831.2(AHI1):c.2920A>G (p.Thr974Ala)	SNV Germline	Chr6:135411389	Conflicting classifications of pathogenicity	Joubert syndrome Inborn genetic diseases Joubert syndrome 3	Criteria Provided Conflicting Classifications	CA4012239	rs_774471595	3 SubmittersRCV001044262 RCV002553110 RCV005036322
NM_001134831.2(AHI1):c.2671C>T (p.Arg891Ter)	SNV Germline	Chr6:135427260	Pathogenic/Likely pathogenic	Joubert syndrome Retinal dystrophy Joubert syndrome 3	Criteria Provided Multiple Submitters No Conflicts	CA365741327	rs_1355690902	4 SubmittersRCV001064140 RCV001075354 RCV001254914
NM_001134831.2(AHI1):c.1642C>T (p.Arg548Cys)	SNV Germline	Chr6:135447145	Conflicting classifications of pathogenicity	Joubert syndrome Joubert syndrome 3 Inborn genetic diseases AHI1-related disorder	Criteria Provided Conflicting Classifications	CA4012550	rs_553366477	4 SubmittersRCV001051404 RCV002497403 RCV004619491 RCV004731083
NM_001134831.2(AHI1):c.1013T>G (p.Leu338Trp)	SNV Germline	Chr6:135457632	Conflicting classifications of pathogenicity	Joubert syndrome Retinal dystrophy Condition: not provided not specified Inborn genetic diseases Intellectual disability	Criteria Provided Conflicting Classifications	CA4012684	rs_201790260	6 SubmittersRCV001063689 RCV001074632 RCV002511028 RCV003317426 RCV002553946 RCV005626321
NM_001134831.2(AHI1):c.827C>G (p.Ser276Cys)	SNV Germline	Chr6:135463229	Conflicting classifications of pathogenicity	Joubert syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA4012747	rs_190854744	2 SubmittersRCV001045973 RCV001546265
NM_001134831.2(AHI1):c.428C>T (p.Pro143Leu)	SNV Germline	Chr6:135466135	Conflicting classifications of pathogenicity	Joubert syndrome Condition: not provided Joubert syndrome 3 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA365751692	rs_192524061	4 SubmittersRCV001066257 RCV002067723 RCV002482100 RCV004030603
NM_001134831.2(AHI1):c.279C>T (p.Ser93=)	SNV Germline	Chr6:135466284	Conflicting classifications of pathogenicity	Joubert syndrome Joubert syndrome 3	Criteria Provided Conflicting Classifications	CA4012858	rs_1205189543	2 SubmittersRCV001054332 RCV002489634
NM_001134831.2(AHI1):c.199A>G (p.Ile67Val)	SNV Germline	Chr6:135466364	Conflicting classifications of pathogenicity	Joubert syndrome Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA4012876	rs_369012543	3 SubmittersRCV001038507 RCV004973259 RCV005225213
NM_001134831.2(AHI1):c.2623+1G>A	SNV Germline	Chr6:135428628	Pathogenic	Joubert syndrome Joubert syndrome 3	Criteria Provided Multiple Submitters No Conflicts	CA4012333	rs_751823180	2 SubmittersRCV001045000 RCV005036325
NM_001134831.2(AHI1):c.749+1G>C	SNV Germline	Chr6:135465813	Likely pathogenic	Joubert syndrome	Criteria Provided Single Submitter	CA365750341	rs_780069818	1 SubmittersRCV001054276
NM_001134831.2(AHI1):c.3364C>T (p.Arg1122Ter)	SNV Germline	Chr6:135318581	Conflicting classifications of pathogenicity	Retinal dystrophy Joubert syndrome	Criteria Provided Conflicting Classifications	CA365844346	rs_1487081231	2 SubmittersRCV001075548 RCV001227900
NM_001134831.2(AHI1):c.2483A>C (p.Asp828Ala)	SNV Germline	Chr6:135429891	Conflicting classifications of pathogenicity	Retinal dystrophy Joubert syndrome 3 Joubert syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA365742550	rs_1784406093	4 SubmittersRCV001075578 RCV002497491 RCV002554762 RCV005328532
NM_001134831.2(AHI1):c.1811C>G (p.Ser604Ter)	SNV Germline	Chr6:135442683	Pathogenic/Likely pathogenic	Retinal dystrophy Joubert syndrome	Criteria Provided Multiple Submitters No Conflicts	CA365744623	rs_781198326	2 SubmittersRCV001075547 RCV001862852
NM_001134831.2(AHI1):c.1483C>T (p.Arg495Cys)	SNV Germline	Chr6:135448433	Conflicting classifications of pathogenicity	Retinal dystrophy Joubert syndrome Joubert syndrome 3	Criteria Provided Conflicting Classifications	CA148136846	rs_891261493	3 SubmittersRCV001074158 RCV001862819 RCV005047294
NM_001134831.2(AHI1):c.1301T>C (p.Leu434Pro)	SNV Germline	Chr6:135455777	Conflicting classifications of pathogenicity	Retinal dystrophy Joubert syndrome Condition: not provided not specified Joubert syndrome 3	Criteria Provided Conflicting Classifications	CA4012626	rs_771603649	5 SubmittersRCV001073851 RCV001216660 RCV002281158 RCV004526080 RCV005036388
NM_001134831.2(AHI1):c.3291G>A (p.Gln1097=)	SNV Germline	Chr6:135323199	Conflicting classifications of pathogenicity	Joubert syndrome 3 Joubert syndrome	Criteria Provided Conflicting Classifications	CA4012052	rs_756637497	2 SubmittersRCV001151589 RCV003769723
NM_001134831.2(AHI1):c.2567C>G (p.Thr856Ser)	SNV Germline	Chr6:135428685	Conflicting classifications of pathogenicity	Joubert syndrome 3 Joubert syndrome	Criteria Provided Conflicting Classifications	CA4012340	rs_199736888	4 SubmittersRCV001157116 RCV001206691
NM_001134831.2(AHI1):c.1694G>A (p.Arg565His)	SNV Germline	Chr6:135447093	Conflicting classifications of pathogenicity	Joubert syndrome 3 Joubert syndrome Condition: not provided Joubert syndrome Nephronophthisis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4012542	rs_372894716	8 SubmittersRCV001154712 RCV001321179 RCV001586010 RCV005253726 RCV005831786
NM_001134831.2(AHI1):c.459A>C (p.Thr153=)	SNV Germline	Chr6:135466104	Conflicting classifications of pathogenicity	Joubert syndrome 3 Joubert syndrome	Criteria Provided Conflicting Classifications	CA4012826	rs_531024131	2 SubmittersRCV001151770 RCV001516742
NM_001134831.2(AHI1):c.2962-13G>A	SNV Germline	Chr6:135404990	Conflicting classifications of pathogenicity	Joubert syndrome 3 Joubert syndrome	Criteria Provided Conflicting Classifications	CA148542864	rs_927158679	2 SubmittersRCV001154604 RCV002070893
NM_001134831.2(AHI1):c.189+12T>C	SNV Germline	Chr6:135467569	Conflicting classifications of pathogenicity	Joubert syndrome 3 Joubert syndrome	Criteria Provided Conflicting Classifications	CA4012899	rs_199617785	2 SubmittersRCV001151772 RCV002070839
NM_001134831.2(AHI1):c.2037-1G>C	SNV Germline	Chr6:135433257	Pathogenic	Joubert syndrome 3	Criteria Provided Single Submitter	CA365743853	rs_1784918128	1 SubmittersRCV001175180
NM_001134831.2(AHI1):c.484C>T (p.Gln162Ter)	SNV Germline	Chr6:135466079	Pathogenic/Likely pathogenic	Joubert syndrome Joubert syndrome 3 Joubert syndrome and related disorders Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA365751567	rs_1270654737	4 SubmittersRCV001204778 RCV002491618 RCV003492229 RCV004813856
NM_001134831.2(AHI1):c.1148A>G (p.Asp383Gly)	SNV Germline	Chr6:135457497	Likely pathogenic	Joubert syndrome 3	Criteria Provided Single Submitter	CA365747470	rs_1789162289	1 SubmittersRCV001250414
NM_001134831.2(AHI1):c.2266G>T (p.Gly756Cys)	SNV Germline	Chr6:135433027	Conflicting classifications of pathogenicity	Joubert syndrome 3 Joubert syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA4012414	rs_376754552	4 SubmittersRCV001252131 RCV002570490 RCV004774362
NM_001134831.2(AHI1):c.1828C>T (p.Arg610Ter)	SNV Germline	Chr6:135442666	Pathogenic	Joubert syndrome 3 Joubert syndrome	Criteria Provided Multiple Submitters No Conflicts	CA4012501	rs_751734985	5 SubmittersRCV001264829 RCV002541620
NM_001134831.2(AHI1):c.2246C>G (p.Ser749Ter)	SNV Germline	Chr6:135433047	Pathogenic	Nephronophthisis Joubert syndrome Retinal disorder	Criteria Provided Multiple Submitters No Conflicts	CA148122329	rs_766069291	3 SubmittersRCV001328118 RCV002537719 RCV006646512
NM_001134831.2(AHI1):c.2548A>G (p.Thr850Ala)	SNV Germline	Chr6:135428704	Conflicting classifications of pathogenicity	Joubert syndrome Condition: not provided Inborn genetic diseases See cases Joubert syndrome 3	Criteria Provided Conflicting Classifications	CA4012344	rs_779509262	5 SubmittersRCV001306007 RCV002255179 RCV002543146 RCV003232295 RCV005040158
NM_001134831.2(AHI1):c.395C>T (p.Thr132Met)	SNV Germline	Chr6:135466168	Conflicting classifications of pathogenicity	Joubert syndrome Joubert syndrome 3	Criteria Provided Conflicting Classifications	CA4012839	rs_756217962	2 SubmittersRCV001324809 RCV005038079
NM_001134831.2(AHI1):c.2361G>A (p.Trp787Ter)	SNV Germline	Chr6:135431220	Pathogenic	Joubert syndrome 3	Criteria Provided Multiple Submitters No Conflicts	CA365743125	rs_863225146	2 SubmittersRCV001330966
NM_001134831.2(AHI1):c.2873A>G (p.Gln958Arg)	SNV Germline	Chr6:135411436	Conflicting classifications of pathogenicity	Joubert syndrome Joubert syndrome 3 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4012249	rs_201771478	4 SubmittersRCV001342169 RCV002493753 RCV003319466 RCV004035984
NM_001134831.2(AHI1):c.2794C>T (p.Arg932Cys)	SNV Germline	Chr6:135411515	Conflicting classifications of pathogenicity	Joubert syndrome Condition: not provided Inborn genetic diseases Joubert syndrome 3	Criteria Provided Conflicting Classifications	CA4012262	rs_370101143	4 SubmittersRCV001348147 RCV001357865 RCV004036541 RCV005038109
NM_001134831.2(AHI1):c.2209G>A (p.Val737Ile)	SNV Germline	Chr6:135433084	Conflicting classifications of pathogenicity	Joubert syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA365743477	rs_1227775795	2 SubmittersRCV001340443 RCV003246905
NM_001134831.2(AHI1):c.1045A>G (p.Ile349Val)	SNV Germline	Chr6:135457600	Conflicting classifications of pathogenicity	Joubert syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4012680	rs_748804342	2 SubmittersRCV001366016 RCV002550058
NM_001134831.2(AHI1):c.2492+5G>A	SNV Germline	Chr6:135429877	Likely pathogenic	Joubert syndrome 3	Criteria Provided Single Submitter	CA2499218110	rs_2128012406	1 SubmittersRCV001726494
NM_001134831.2(AHI1):c.3235C>T (p.Arg1079Ter)	SNV Germline	Chr6:135323255	Pathogenic/Likely pathogenic	Rod-cone dystrophy Joubert syndrome 3 Joubert syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA4012062	rs_761732432	4 SubmittersRCV001376376 RCV002493913 RCV002550234 RCV005256786
NM_001134831.2(AHI1):c.2623+2T>A	SNV Germline	Chr6:135428627	Pathogenic	Joubert syndrome	Criteria Provided Single Submitter	CA365741981	rs_2128009190	1 SubmittersRCV001379984
NM_001134831.2(AHI1):c.1151+1G>A	SNV Germline	Chr6:135457493	Likely pathogenic	Joubert syndrome	Criteria Provided Single Submitter	CA365747447	rs_2128081334	1 SubmittersRCV001377083
NM_001134831.2(AHI1):c.1583C>A (p.Ser528Ter)	SNV Germline	Chr6:135448333	Pathogenic/Likely pathogenic	Joubert syndrome Joubert syndrome 3	Criteria Provided Multiple Submitters No Conflicts	CA365745144	rs_2128058828	2 SubmittersRCV001382196 RCV005038183
NM_001134831.2(AHI1):c.1166C>G (p.Ser389Ter)	SNV Germline	Chr6:135455912	Pathogenic/Likely pathogenic	Joubert syndrome Joubert syndrome 3	Criteria Provided Multiple Submitters No Conflicts	CA4012642	rs_761388040	2 SubmittersRCV001386449 RCV005040259
NM_001134831.2(AHI1):c.1131A>G (p.Gln377=)	SNV Germline	Chr6:135457514	Conflicting classifications of pathogenicity	Joubert syndrome Condition: not provided Joubert syndrome 3	Criteria Provided Conflicting Classifications	CA4012667	rs_142518256	3 SubmittersRCV001394853 RCV001773741 RCV005040273
NM_001134831.2(AHI1):c.712A>G (p.Lys238Glu)	SNV Germline	Chr6:135465851	Conflicting classifications of pathogenicity	Joubert syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA4012780	rs_748182443	2 SubmittersRCV001432227 RCV001556602
NM_001134831.2(AHI1):c.313C>T (p.Gln105Ter)	SNV Germline	Chr6:135466250	Pathogenic/Likely pathogenic	Joubert syndrome 3 Joubert syndrome	Criteria Provided Multiple Submitters No Conflicts	CA4012852	rs_774628957	4 SubmittersRCV001783339 RCV006467949
NM_001134831.2(AHI1):c.1044C>A (p.Tyr348Ter)	SNV Germline	Chr6:135457601	Pathogenic	Joubert syndrome 3	Criteria Provided Single Submitter	CA365747804	rs_2128081591	1 SubmittersRCV001783341
NM_001134831.2(AHI1):c.136-2A>G	SNV Germline	Chr6:135467636	Conflicting classifications of pathogenicity	Condition: not provided Joubert syndrome	Criteria Provided Conflicting Classifications	CA4012910	rs_776579906	2 SubmittersRCV001787489 RCV003495258
NM_001134831.2(AHI1):c.2129G>A (p.Arg710Lys)	SNV Germline	Chr6:135433164	Conflicting classifications of pathogenicity	Joubert syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA365743651	rs_1352407748	2 SubmittersRCV002025929 RCV005331133
NM_001134831.2(AHI1):c.1892G>A (p.Arg631Gln)	SNV Germline	Chr6:135442602	Conflicting classifications of pathogenicity	Joubert syndrome Condition: not provided Joubert syndrome 3 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4012486	rs_780823419	4 SubmittersRCV001922449 RCV004693905 RCV005038461 RCV005572696
NM_001134831.2(AHI1):c.2582G>A (p.Gly861Glu)	SNV Germline	Chr6:135428670	Conflicting classifications of pathogenicity	Joubert syndrome not specified	Criteria Provided Conflicting Classifications	CA365742154	rs_1217172210	2 SubmittersRCV001882058 RCV006691056
NM_001134831.2(AHI1):c.136-1G>A	SNV Germline	Chr6:135467635	Likely pathogenic	Joubert syndrome	Criteria Provided Single Submitter	CA365753773	rs_2128100946	1 SubmittersRCV002012883
NM_001134831.2(AHI1):c.3070G>A (p.Ala1024Thr)	SNV Germline	Chr6:135394815	Conflicting classifications of pathogenicity	Joubert syndrome Joubert syndrome 3 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4012179	rs_750383545	3 SubmittersRCV001891112 RCV002503508 RCV003247107
NM_001134831.2(AHI1):c.1981T>C (p.Ser661Pro)	SNV Germline	Chr6:135438430	Pathogenic/Likely pathogenic	Joubert syndrome Joubert syndrome 3	Criteria Provided Multiple Submitters No Conflicts	CA365744245	rs_1785745572	3 SubmittersRCV001975210 RCV003987946
NM_001134831.2(AHI1):c.2989-2A>G	SNV Germline	Chr6:135394898	Likely pathogenic	Joubert syndrome	Criteria Provided Single Submitter	CA365843932	rs_2128485171	1 SubmittersRCV001971717
NM_001134831.2(AHI1):c.1493T>C (p.Leu498Pro)	SNV Germline	Chr6:135448423	Conflicting classifications of pathogenicity	Joubert syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA365745520	rs_2128059170	2 SubmittersRCV002043017 RCV005834185
NM_001134831.2(AHI1):c.478A>T (p.Lys160Ter)	SNV Germline	Chr6:135466085	Pathogenic/Likely pathogenic	Joubert syndrome Joubert syndrome 3	Criteria Provided Multiple Submitters No Conflicts	CA365751580	rs_1257185309	2 SubmittersRCV001939373 RCV005031997
NM_001134831.2(AHI1):c.3200C>G (p.Ser1067Ter)	SNV Germline	Chr6:135323290	Pathogenic	Joubert syndrome	Criteria Provided Single Submitter	CA365845751	rs_2128384779	1 SubmittersRCV001952073
NM_001134831.2(AHI1):c.2961+2T>G	SNV Germline	Chr6:135411346	Likely pathogenic	Joubert syndrome	Criteria Provided Single Submitter	CA365845760	rs_2127973751	1 SubmittersRCV001986412
NM_001134831.2(AHI1):c.281C>T (p.Thr94Met)	SNV Germline	Chr6:135466282	Conflicting classifications of pathogenicity	Joubert syndrome Inborn genetic diseases Joubert syndrome 3	Criteria Provided Conflicting Classifications	CA4012857	rs_373490556	3 SubmittersRCV002041018 RCV003348766 RCV002498064
NM_001134831.2(AHI1):c.2036+6T>G	SNV Germline	Chr6:135438369	Conflicting classifications of pathogenicity	Joubert syndrome 3 Joubert syndrome	Criteria Provided Conflicting Classifications	CA2573130303	rs_2128037867	2 SubmittersRCV002273329 RCV005095980
NM_001134831.2(AHI1):c.2261C>T (p.Thr754Ile)	SNV Germline	Chr6:135433032	Conflicting classifications of pathogenicity	Inborn genetic diseases Joubert syndrome	Criteria Provided Conflicting Classifications	CA365743360	rs_1784886281	2 SubmittersRCV003041276 RCV003058523
NM_001134831.2(AHI1):c.1580C>T (p.Pro527Leu)	SNV Germline	Chr6:135448336	Pathogenic	Joubert syndrome	Criteria Provided Single Submitter	CA4012564	rs_750264231	1 SubmittersRCV002574134
NM_001134831.2(AHI1):c.2081T>G (p.Leu694Ter)	SNV Germline	Chr6:135433212	Pathogenic	Joubert syndrome	Criteria Provided Single Submitter	CA365743747	rs_1179403052	1 SubmittersRCV002621718
NM_001134831.2(AHI1):c.932-7C>T	SNV Germline	Chr6:135457720	Conflicting classifications of pathogenicity	Joubert syndrome AHI1-related disorder Joubert syndrome 3	Criteria Provided Conflicting Classifications	CA4012706	rs_773551361	3 SubmittersRCV002766666 RCV003943496 RCV005034413
NM_001134831.2(AHI1):c.3426+2T>C	SNV Germline	Chr6:135318517	Likely pathogenic	Joubert syndrome Joubert syndrome and related disorders	Criteria Provided Multiple Submitters No Conflicts	CA148533165	rs_893650468	2 SubmittersRCV002881396 RCV003492784
NM_001134831.2(AHI1):c.2493-1G>T	SNV Germline	Chr6:135428760	Likely pathogenic	Joubert syndrome	Criteria Provided Single Submitter	CA365742450	rs_1178479782	1 SubmittersRCV002866503
NM_001134831.2(AHI1):c.2961+1G>A	SNV Germline	Chr6:135411347	Likely pathogenic	Joubert syndrome	Criteria Provided Single Submitter	CA365845764	rs_1781562565	1 SubmittersRCV002904493
NM_001134831.2(AHI1):c.3440A>G (p.Lys1147Arg)	SNV Germline	Chr6:135300545	Conflicting classifications of pathogenicity	Joubert syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4012000	rs_763126846	2 SubmittersRCV002947355 RCV003170602
NM_001134831.2(AHI1):c.1553G>A (p.Trp518Ter)	SNV Germline	Chr6:135448363	Pathogenic	Joubert syndrome	Criteria Provided Single Submitter	CA365745262	rs_2484787497	1 SubmittersRCV002967842
NM_001134831.2(AHI1):c.2773C>T (p.Gln925Ter)	SNV Germline	Chr6:135411536	Pathogenic	Joubert syndrome	Criteria Provided Single Submitter	CA365846239	rs_2484272408	1 SubmittersRCV002976426
NM_001134831.2(AHI1):c.3110-1G>A	SNV Germline	Chr6:135358188	Likely pathogenic	Joubert syndrome	Criteria Provided Single Submitter	CA365840960	rs_2483589449	1 SubmittersRCV002995501
NM_001134831.2(AHI1):c.3289C>T (p.Gln1097Ter)	SNV Germline	Chr6:135323201	Pathogenic	Joubert syndrome	Criteria Provided Single Submitter	CA365845518	rs_1457793607	1 SubmittersRCV003046624
NM_001134831.2(AHI1):c.940A>G (p.Asn314Asp)	SNV Germline	Chr6:135457705	Conflicting classifications of pathogenicity	Joubert syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA365748032	rs_1789198105	2 SubmittersRCV003052376 RCV003294402
NM_001134831.2(AHI1):c.1985G>A (p.Trp662Ter)	SNV Germline	Chr6:135438426	Likely pathogenic	Joubert syndrome and related disorders	Criteria Provided Single Submitter	CA365744237	rs_1221909332	1 SubmittersRCV003155656
NM_001134831.2(AHI1):c.2266+1G>A	SNV Germline	Chr6:135433026	Pathogenic	Joubert syndrome 3	Criteria Provided Single Submitter	CA4012413	rs_774144071	1 SubmittersRCV003335818
NM_001134831.2(AHI1):c.2155G>C (p.Asp719His)	SNV Germline	Chr6:135433138	Likely pathogenic	Joubert syndrome	Criteria Provided Single Submitter	CA365743594	rs_2484604421	1 SubmittersRCV003495404
NM_001134831.2(AHI1):c.1660C>T (p.Gln554Ter)	SNV Germline	Chr6:135447127	Pathogenic/Likely pathogenic	Joubert syndrome Joubert syndrome 3	Criteria Provided Multiple Submitters No Conflicts	CA148132326	rs_933648254	2 SubmittersRCV003496467 RCV005047650
NM_001134831.2(AHI1):c.2282C>G (p.Ser761Ter)	SNV Germline	Chr6:135431299	Pathogenic	Joubert syndrome Joubert syndrome 3	Criteria Provided Multiple Submitters No Conflicts	CA365743298	rs_794727174	2 SubmittersRCV003496547 RCV005402043
NM_001134831.2(AHI1):c.1255G>T (p.Glu419Ter)	SNV Germline	Chr6:135455823	Pathogenic	Joubert syndrome	Criteria Provided Single Submitter	CA365746547	rs_2484882747	1 SubmittersRCV003496449
NM_001134831.2(AHI1):c.2884C>T (p.Gln962Ter)	SNV Germline	Chr6:135411425	Pathogenic	Joubert syndrome	Criteria Provided Single Submitter	CA365845997	rs_2484269420	1 SubmittersRCV003497135
NM_001134831.2(AHI1):c.1779+1G>A	SNV Germline	Chr6:135447007	Likely pathogenic	Joubert syndrome	Criteria Provided Single Submitter	CA4012524	rs_753655744	1 SubmittersRCV003497333
NM_001134831.2(AHI1):c.2167C>G (p.Arg723Gly)	SNV Germline	Chr6:135433126	Likely pathogenic	Joubert syndrome	Criteria Provided Single Submitter	CA365743567	rs_761245375	1 SubmittersRCV003494843
NM_001134831.2(AHI1):c.1526T>A (p.Leu509Ter)	SNV Germline	Chr6:135448390	Pathogenic	Joubert syndrome	Criteria Provided Single Submitter	CA4012572	rs_41288021	1 SubmittersRCV003494829
NM_001134831.2(AHI1):c.3166-1G>T	SNV Germline	Chr6:135323325	Likely pathogenic	Joubert syndrome	Criteria Provided Single Submitter	CA365845896	rs_2483268122	1 SubmittersRCV003494809
NM_001134831.2(AHI1):c.1500C>G (p.Tyr500Ter)	SNV Germline	Chr6:135448416	Pathogenic	Joubert syndrome	Criteria Provided Single Submitter	CA365745490	rs_769742563	1 SubmittersRCV003495721
NM_001134831.2(AHI1):c.2748T>G (p.Tyr916Ter)	SNV Germline	Chr6:135427183	Pathogenic	Joubert syndrome	Criteria Provided Single Submitter	CA365740890	rs_2484504701	1 SubmittersRCV003496753
NM_001134831.2(AHI1):c.11-1G>C	SNV Germline	Chr6:135490748	Likely pathogenic	Joubert syndrome	Criteria Provided Single Submitter	CA365741453	rs_2485337123	1 SubmittersRCV003598302
NM_001134831.2(AHI1):c.216C>T (p.Pro72=)	SNV Germline	Chr6:135466347	Conflicting classifications of pathogenicity	Joubert syndrome Joubert syndrome 3	Criteria Provided Conflicting Classifications	CA452430637	rs_1434415693	2 SubmittersRCV003598387 RCV005036917
NM_001134831.2(AHI1):c.2764+2T>C	SNV Germline	Chr6:135427165	Likely pathogenic	Joubert syndrome	Criteria Provided Single Submitter	CA365740740	rs_1419492897	1 SubmittersRCV003599239
NM_001134831.2(AHI1):c.1779+1G>T	SNV Germline	Chr6:135447007	Pathogenic/Likely pathogenic	Joubert syndrome Joubert syndrome 3	Criteria Provided Multiple Submitters No Conflicts	CA365744704	rs_753655744	2 SubmittersRCV003599192 RCV005254855
NM_001134831.2(AHI1):c.523G>T (p.Glu175Ter)	SNV Germline	Chr6:135466040	Pathogenic	Joubert syndrome	Criteria Provided Single Submitter	CA365751478	rs_751749918	1 SubmittersRCV003599268
NM_001134831.2(AHI1):c.2624-2A>G	SNV Germline	Chr6:135427309	Likely pathogenic	Joubert syndrome	Criteria Provided Single Submitter	CA365741501	rs_2484508005	1 SubmittersRCV003599248
NM_001134831.2(AHI1):c.856G>T (p.Glu286Ter)	SNV Germline	Chr6:135463200	Pathogenic	Joubert syndrome	Criteria Provided Single Submitter	CA365749115	rs_894830970	1 SubmittersRCV003599378
NM_001134831.2(AHI1):c.3110-2A>G	SNV Germline	Chr6:135358189	Likely pathogenic	Joubert syndrome	Criteria Provided Single Submitter	CA4012109	rs_758715635	1 SubmittersRCV003599617
NM_001134831.2(AHI1):c.750-2A>G	SNV Germline	Chr6:135463308	Likely pathogenic	Joubert syndrome	Criteria Provided Single Submitter	CA365749652	rs_2484977012	1 SubmittersRCV003599409
NM_001134831.2(AHI1):c.1034T>A (p.Leu345Ter)	SNV Germline	Chr6:135457611	Pathogenic	Joubert syndrome	Criteria Provided Single Submitter	CA365747827	rs_2484906480	1 SubmittersRCV003599675
NM_001134831.2(AHI1):c.1777C>T (p.Gln593Ter)	SNV Germline	Chr6:135447010	Pathogenic	Joubert syndrome	Criteria Provided Single Submitter	CA365744711	rs_1480087006	1 SubmittersRCV003599771
NM_001134831.2(AHI1):c.2989-2A>T	SNV Germline	Chr6:135394898	Likely pathogenic	Joubert syndrome	Criteria Provided Single Submitter	CA365843928	rs_2128485171	1 SubmittersRCV003599666
NM_001134831.2(AHI1):c.3180T>A (p.Tyr1060Ter)	SNV Germline	Chr6:135323310	Pathogenic	Joubert syndrome	Criteria Provided Single Submitter	CA365845841	rs_2483267737	1 SubmittersRCV003599841
NM_001134831.2(AHI1):c.750-1G>A	SNV Germline	Chr6:135463307	Likely pathogenic	Joubert syndrome Joubert syndrome 3	Criteria Provided Multiple Submitters No Conflicts	CA365749644	rs_2484976975	2 SubmittersRCV003597671 RCV005036950
NM_001134831.2(AHI1):c.2295A>G (p.Thr765=)	SNV Germline	Chr6:135431286	Conflicting classifications of pathogenicity	Joubert syndrome Joubert syndrome 3	Criteria Provided Conflicting Classifications	CA452213531	rs_1171943827	2 SubmittersRCV003597615 RCV005036946
NM_001134831.2(AHI1):c.2042G>A (p.Trp681Ter)	SNV Germline	Chr6:135433251	Pathogenic	Joubert syndrome	Criteria Provided Single Submitter	CA365743840	rs_1236041314	1 SubmittersRCV003597695
NM_001134831.2(AHI1):c.1152-19A>G	SNV Germline	Chr6:135455945	Conflicting classifications of pathogenicity	Joubert syndrome Joubert syndrome 3	Criteria Provided Conflicting Classifications	CA2519695259	rs_2484885417	2 SubmittersRCV003597940 RCV005036980
NM_001134831.2(AHI1):c.3431C>G (p.Ser1144Ter)	SNV Germline	Chr6:135300554	Pathogenic/Likely pathogenic	Joubert syndrome Joubert syndrome 3	Criteria Provided Multiple Submitters No Conflicts	CA148531303	rs_982379114	2 SubmittersRCV003597811 RCV005036959
NM_001134831.2(AHI1):c.2929C>T (p.Gln977Ter)	SNV Germline	Chr6:135411380	Pathogenic	Joubert syndrome	Criteria Provided Single Submitter	CA365845887	rs_1307676365	1 SubmittersRCV003598590
NM_001134831.2(AHI1):c.3088C>T (p.Gln1030Ter)	SNV Germline	Chr6:135394797	Pathogenic/Likely pathogenic	Joubert syndrome Joubert syndrome 3	Criteria Provided Multiple Submitters No Conflicts	CA365843599	rs_2484034993	2 SubmittersRCV003598810 RCV005038502
NM_001134831.2(AHI1):c.3421C>T (p.Gln1141Ter)	SNV Germline	Chr6:135318524	Pathogenic	Joubert syndrome	Criteria Provided Single Submitter	CA365844112	rs_2483216049	1 SubmittersRCV003822241
NM_001134831.2(AHI1):c.3486-2A>T	SNV Germline	Chr6:135290527	Likely pathogenic	Joubert syndrome Joubert syndrome 3	Criteria Provided Multiple Submitters No Conflicts	CA365840991	rs_1412515128	2 SubmittersRCV003822161 RCV005038547
NM_001134831.2(AHI1):c.3427-1G>A	SNV Germline	Chr6:135300559	Likely pathogenic	Joubert syndrome	Criteria Provided Single Submitter	CA365841365	rs_2483057578	1 SubmittersRCV003856467
NM_001134831.2(AHI1):c.1913-1G>A	SNV Germline	Chr6:135438499	Likely pathogenic	Joubert syndrome	Criteria Provided Single Submitter	CA365744401	rs_1785757537	1 SubmittersRCV003851986
NM_001134831.2(AHI1):c.1152-1G>A	SNV Germline	Chr6:135455927	Pathogenic/Likely pathogenic	Joubert syndrome Joubert syndrome 3	Criteria Provided Multiple Submitters No Conflicts	CA365746783	rs_1344854036	2 SubmittersRCV003880498 RCV005040610
NM_001134831.2(AHI1):c.1399C>T (p.Gln467Ter)	SNV Germline	Chr6:135453382	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV004812240
NM_001134831.2(AHI1):c.3486-1G>T	SNV Germline	Chr6:135290526	Likely pathogenic	Joubert syndrome 3	Criteria Provided Single Submitter			1 SubmittersRCV005045567
NM_001134831.2(AHI1):c.3486-2A>G	SNV Germline	Chr6:135290527	Likely pathogenic	Joubert syndrome 3	Criteria Provided Single Submitter			1 SubmittersRCV005037905
NM_001134831.2(AHI1):c.3328+1G>T	SNV Germline	Chr6:135323161	Likely pathogenic	Joubert syndrome 3	Criteria Provided Single Submitter			1 SubmittersRCV005045569
NM_001134831.2(AHI1):c.3166-2A>G	SNV Germline	Chr6:135323326	Likely pathogenic	Joubert syndrome 3	Criteria Provided Single Submitter			1 SubmittersRCV005037912
NM_001134831.2(AHI1):c.2277G>A (p.Met759Ile)	SNV Germline	Chr6:135431304	Likely pathogenic	Joubert syndrome 3	Criteria Provided Single Submitter			1 SubmittersRCV005037932
NM_001134831.2(AHI1):c.1550G>A (p.Trp517Ter)	SNV Germline	Chr6:135448366	Pathogenic	Joubert syndrome 3	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005037939
NM_001134831.2(AHI1):c.1427G>A (p.Trp476Ter)	SNV Germline	Chr6:135453354	Likely pathogenic	Joubert syndrome 3	Criteria Provided Single Submitter			1 SubmittersRCV005037944
NM_001134831.2(AHI1):c.932-1G>C	SNV Germline	Chr6:135457714	Likely pathogenic	Joubert syndrome 3	Criteria Provided Single Submitter			1 SubmittersRCV005037948
NM_001134831.2(AHI1):c.812C>A (p.Ser271Ter)	SNV Germline	Chr6:135463244	Likely pathogenic	Joubert syndrome 3	Criteria Provided Single Submitter			1 SubmittersRCV005045581
NM_001134831.2(AHI1):c.135+1G>C	SNV Germline	Chr6:135490622	Likely pathogenic	Joubert syndrome 3	Criteria Provided Single Submitter			1 SubmittersRCV005037968
NM_001134831.2(AHI1):c.643C>T (p.Gln215Ter)	SNV Germline	Chr6:135465920	Pathogenic	Joubert syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005119584
NM_001134831.2(AHI1):c.3014C>G (p.Ser1005Ter)	SNV Germline	Chr6:135394871	Pathogenic	Joubert syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005130296
NM_001134831.2(AHI1):c.2989-1G>A	SNV Germline	Chr6:135394897	Likely pathogenic	Joubert syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005167821
NM_001134831.2(AHI1):c.3426+1G>A	SNV Germline	Chr6:135318518	Likely pathogenic	Joubert syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005183178
NM_001134831.2(AHI1):c.576T>A (p.Tyr192Ter)	SNV Germline	Chr6:135465987	Pathogenic	Joubert syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005183035
NM_001134831.2(AHI1):c.1259G>A (p.Trp420Ter)	SNV Germline	Chr6:135455819	Pathogenic	Joubert syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005200587
NM_001134831.2(AHI1):c.2623+1G>C	SNV Germline	Chr6:135428628	Likely pathogenic	Joubert syndrome and related disorders	Criteria Provided Single Submitter			1 SubmittersRCV005239811
NM_001134831.2(AHI1):c.1760G>A (p.Trp587Ter)	SNV Germline	Chr6:135447027	Pathogenic/Likely pathogenic	Joubert syndrome 3	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005253377
NM_001134831.2(AHI1):c.10+1G>C	SNV Germline	Chr6:135492227	Likely pathogenic	Joubert syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006514441
NM_001134831.2(AHI1):c.1627-1G>C	SNV Germline	Chr6:135447161	Likely pathogenic	Joubert syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006542654
NM_001134831.2(AHI1):c.2373+1G>A	SNV Germline	Chr6:135431207	Likely pathogenic	Joubert syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006541672
NM_001134831.2(AHI1):c.189+1G>T	SNV Germline	Chr6:135467580	Likely pathogenic	Joubert syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006581112
NM_001134831.2(AHI1):c.3110-1G>C	SNV Germline	Chr6:135358188	Likely pathogenic	Joubert syndrome 3	Criteria Provided Single Submitter			1 SubmittersRCV006707266

NM_001134831.2(AHI1):c.1051C>T (p.Arg351Ter)

SNV
Germline

Chr6:135457594

Pathogenic

Joubert syndrome 3
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA252041

rs_121434348

4 SubmittersRCV000002087 RCV001058641

NM_001134831.2(AHI1):c.1303C>T (p.Arg435Ter)

SNV
Germline

Chr6:135455775

Pathogenic

Joubert syndrome 3
Joubert syndrome

Criteria Provided
Single Submitter

CA252043

rs_121434349

2 SubmittersRCV000002088 RCV003495105

NM_001134831.2(AHI1):c.1328T>A (p.Val443Asp)

SNV
Germline

Chr6:135455750

Pathogenic/Likely pathogenic

Joubert syndrome 3
Global developmental delay
Typical Joubert syndrome MRI findings

Criteria Provided
Multiple Submitters
No Conflicts

CA249938

rs_121434350

4 SubmittersRCV000002089 RCV000162132

NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter)

SNV
Germline

Chr6:135447022

Pathogenic

Joubert syndrome 3
Condition: not provided
Rod-cone dystrophy
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA252046

rs_267606641

8 SubmittersRCV000002091 RCV000522479 RCV001376341 RCV001380010

NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln)

SNV
Germline

Chr6:135433125

Conflicting classifications of pathogenicity

Joubert syndrome 3
Joubert syndrome
Joubert syndrome with ocular defect
Condition: not provided
AHI1-related disorder

Criteria Provided
Conflicting Classifications

CA252048

rs_121434351

11 SubmittersRCV000002092 RCV000463110 RCV001172382 RCV001582460 RCV004752680

NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter)

SNV
Germline

Chr6:135457660

Pathogenic

Joubert syndrome 3
Condition: not provided
Retinal dystrophy
Joubert syndrome with ocular defect
Joubert syndrome
Retinitis pigmentosa 40

Criteria Provided
Multiple Submitters
No Conflicts

CA259900

rs_201391050

7 SubmittersRCV000023739 RCV000255060 RCV001074225 RCV001172379 RCV001390240 RCV006698004

NM_001134831.2(AHI1):c.1484G>A (p.Arg495His)

SNV
Germline

Chr6:135448432

Pathogenic

Joubert syndrome 3
Joubert syndrome

Criteria Provided
Single Submitter

CA259902

rs_387907003

2 SubmittersRCV000023740 RCV002513203

NM_001134831.2(AHI1):c.1052G>T (p.Arg351Leu)

SNV
Germline

Chr6:135457593

Pathogenic

Joubert syndrome 3

Criteria Provided
Single Submitter

CA264217

rs_397514726

2 SubmittersRCV000054427

NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter)

SNV
Germline

Chr6:135433119

Pathogenic/Likely pathogenic

Joubert syndrome 3
Retinitis pigmentosa
Condition: not provided
Joubert syndrome
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA270780

rs_587783013

10 SubmittersRCV000144464 RCV000678521 RCV001698972 RCV003495112 RCV001262092

NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu)

SNV
Germline

Chr6:135431299

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 3
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA240759

rs_794727174

6 SubmittersRCV000175088 RCV000185588 RCV001053820

NM_001134831.2(AHI1):c.2808A>G (p.Thr936=)

SNV
Germline

Chr6:135411501

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
not specified

Criteria Provided
Conflicting Classifications

CA241966

rs_373772212

5 SubmittersRCV000176103 RCV001396553 RCV001698990

NM_001134831.2(AHI1):c.1033T>A (p.Leu345Met)

SNV
Germline

Chr6:135457612

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Joubert syndrome 3
Joubert syndrome
Inborn genetic diseases
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA247748

rs_200927282

7 SubmittersRCV000250813 RCV000724880 RCV001155546 RCV001206260 RCV002517761 RCV004816310

NM_001134831.2(AHI1):c.1157G>A (p.Arg386Gln)

SNV
Germline

Chr6:135455921

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Inborn genetic diseases
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

CA248175

rs_371243793

5 SubmittersRCV000724597 RCV001226983 RCV004020179 RCV005031718

NM_001134831.2(AHI1):c.2087A>G (p.His696Arg)

SNV
Germline

Chr6:135433206

Likely pathogenic

Joubert syndrome 3
Retinitis pigmentosa

Criteria Provided
Single Submitter

CA277462

rs_797045224

2 SubmittersRCV000195247 RCV000504798

NM_001134831.2(AHI1):c.1861G>T (p.Gly621Ter)

SNV
Germline

Chr6:135442633

Pathogenic/Likely pathogenic

Joubert syndrome 3
Condition: not provided
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA277278

rs_797045223

4 SubmittersRCV000194226 RCV000599258 RCV000820311

NM_001134831.2(AHI1):c.3418C>T (p.Pro1140Ser)

SNV
Germline

Chr6:135318527

Conflicting classifications of pathogenicity

Joubert syndrome
not specified
Joubert syndrome 3
Intellectual disability
Condition: not provided

Criteria Provided
Conflicting Classifications

CA335852

rs_201148693

5 SubmittersRCV000195696 RCV000248598 RCV001157001 RCV001252130 RCV001596984

NM_001134831.2(AHI1):c.989A>G (p.Asp330Gly)

SNV
Germline

Chr6:135457656

Conflicting classifications of pathogenicity

Joubert syndrome
not specified
Joubert syndrome 3
Condition: not provided
Inborn genetic diseases
AHI1-related disorder
Cholangiocarcinoma
Lung cancer

Criteria Provided
Conflicting Classifications

CA338680

rs_200201741

9 SubmittersRCV000199507 RCV000346238 RCV001157230 RCV001576697 RCV002517286 RCV003927849 RCV005893571 RCV005893572

NM_001134831.2(AHI1):c.2705T>A (p.Val902Asp)

SNV
Germline

Chr6:135427226

Conflicting classifications of pathogenicity

Joubert syndrome 3
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA277806

rs_368788993

3 SubmittersRCV000201756 RCV005237713 RCV005645035

NM_001134831.2(AHI1):c.2687A>G (p.His896Arg)

SNV
Germline

Chr6:135427244

Pathogenic/Likely pathogenic

Joubert syndrome 3
Condition: not provided
Joubert syndrome
AHI1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA279374

rs_863225135

6 SubmittersRCV000201566 RCV001091216 RCV001240194 RCV003407712

NM_001134831.2(AHI1):c.2495T>G (p.Leu832Ter)

SNV
Germline

Chr6:135428757

Pathogenic/Likely pathogenic

Joubert syndrome 3
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA279357

rs_863225131

2 SubmittersRCV000201542 RCV003114363

NM_001134831.2(AHI1):c.2361G>T (p.Trp787Cys)

SNV
Unknown

Chr6:135431220

Pathogenic

Joubert syndrome 3

Criteria Provided
Single Submitter

CA279355

rs_863225146

1 SubmittersRCV000201540

NM_001134831.2(AHI1):c.2297G>A (p.Gly766Glu)

SNV
Germline

Chr6:135431284

Pathogenic/Likely pathogenic

Joubert syndrome 3
Joubert syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA279563

rs_863225139

3 SubmittersRCV000201786 RCV003495118 RCV006555666

NM_001134831.2(AHI1):c.2212C>T (p.Arg738Ter)

SNV
Germline

Chr6:135433081

Pathogenic/Likely pathogenic

Joubert syndrome 3
Condition: not provided
Retinitis pigmentosa
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA277726

rs_372659908

7 SubmittersRCV000201604 RCV000255574 RCV001002863 RCV001387494

NM_001134831.2(AHI1):c.2173T>C (p.Trp725Arg)

SNV
Germline

Chr6:135433120

Conflicting classifications of pathogenicity

Joubert syndrome 3
Joubert syndrome
Condition: not provided
not specified
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA279352

rs_863225144

5 SubmittersRCV000201537 RCV000817125 RCV003237762 RCV003235125 RCV004816344

NM_001134831.2(AHI1):c.2156A>G (p.Asp719Gly)

SNV
Germline

Chr6:135433137

Pathogenic/Likely pathogenic

Joubert syndrome 3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA279368

rs_863225134

2 SubmittersRCV000201556 RCV000497534

NM_001134831.2(AHI1):c.2036+1G>T

SNV
Unknown

Chr6:135438374

Pathogenic

Joubert syndrome 3

Criteria Provided
Single Submitter

CA277734

rs_776093293

1 SubmittersRCV000201625

NM_001134831.2(AHI1):c.2023G>A (p.Asp675Asn)

SNV
Unknown

Chr6:135438388

Pathogenic

Joubert syndrome 3

Criteria Provided
Single Submitter

CA279503

rs_863225145

1 SubmittersRCV000201721

NM_001134831.2(AHI1):c.2012C>T (p.Thr671Ile)

SNV
Germline

Chr6:135438399

Pathogenic/Likely pathogenic

Joubert syndrome 3
Condition: not provided
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA277741

rs_772989270

3 SubmittersRCV000201635 RCV001731519 RCV003495117

NM_001134831.2(AHI1):c.1997A>T (p.Asp666Val)

SNV
Germline

Chr6:135438414

Pathogenic/Likely pathogenic

Joubert syndrome 3
Condition: not provided
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA279428

rs_863225147

3 SubmittersRCV000201632 RCV000414742 RCV001051208

NM_001134831.2(AHI1):c.1976A>T (p.Asp659Val)

SNV
Germline

Chr6:135438435

Pathogenic

Joubert syndrome 3
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA277783

rs_541041911

2 SubmittersRCV000201711 RCV001853231

NM_001134831.2(AHI1):c.1917T>A (p.Tyr639Ter)

SNV
Unknown

Chr6:135438494

Pathogenic

Joubert syndrome 3

Criteria Provided
Single Submitter

CA277799

rs_764412921

1 SubmittersRCV000201738

NM_001134831.2(AHI1):c.1626+1G>A

SNV
Germline

Chr6:135448289

Pathogenic/Likely pathogenic

Joubert syndrome 3
Joubert syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA279376

rs_863225137

3 SubmittersRCV000201568 RCV001064139 RCV002277553

NM_001134831.2(AHI1):c.1516C>T (p.Arg506Ter)

SNV
Germline

Chr6:135448400

Pathogenic

Joubert syndrome 3
Joubert syndrome
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA277801

rs_371637724

4 SubmittersRCV000201739 RCV000702666 RCV004767145

NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter)

SNV
Germline

Chr6:135455811

Pathogenic

Joubert syndrome 3
Joubert syndrome
Condition: not provided
Retinal dystrophy
Nephronophthisis
Rod-cone dystrophy
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA339611

rs_777668842

9 SubmittersRCV000201715 RCV000206729 RCV000482493 RCV001074545 RCV001328119 RCV001376375 RCV003317148

NM_001134831.2(AHI1):c.1260G>A (p.Trp420Ter)

SNV
Germline

Chr6:135455818

Pathogenic

Joubert syndrome 3
Joubert syndrome
Condition: not provided
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA279421

rs_863225143

6 SubmittersRCV000201621 RCV001853230 RCV004719748 RCV005237712

NM_001134831.2(AHI1):c.1152-2A>G

SNV
Germline

Chr6:135455928

Pathogenic

Joubert syndrome 3
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA277693

rs_753085250

2 SubmittersRCV000201545 RCV003495116

NM_001134831.2(AHI1):c.1115A>G (p.Asp372Gly)

SNV
Unknown

Chr6:135457530

Pathogenic

Joubert syndrome 3

Criteria Provided
Single Submitter

CA279507

rs_863225133

1 SubmittersRCV000201728

NM_001134831.2(AHI1):c.736A>T (p.Lys246Ter)

SNV
Germline

Chr6:135465827

Pathogenic

Joubert syndrome 3
See cases
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA279546

rs_863225142

4 SubmittersRCV000201760 RCV002287391 RCV003330575

NM_001134831.2(AHI1):c.662C>G (p.Ser221Ter)

SNV
Germline

Chr6:135465901

Pathogenic

Joubert syndrome 3
Joubert syndrome and related disorders
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA279475

rs_863225138

4 SubmittersRCV000201668 RCV002469064 RCV003765300

NM_001134831.2(AHI1):c.-140+1G>T

SNV
Germline

Chr6:135497187

Conflicting classifications of pathogenicity

Condition: not provided
not specified
AHI1-related disorder

Criteria Provided
Conflicting Classifications

CA10581400

rs_145372075

3 SubmittersRCV000224887 RCV000420430 RCV003897509

NM_001134831.2(AHI1):c.2492+15G>A

SNV
Germline

Chr6:135429867

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 3
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA4012364

rs_535243555

3 SubmittersRCV000249134 RCV001157118 RCV002058268

NM_001134831.2(AHI1):c.2382A>G (p.Lys794=)

SNV
Germline

Chr6:135429992

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 3
Joubert syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4012382

rs_191682790

5 SubmittersRCV000249053 RCV001157121 RCV001462053 RCV001705372

NM_001134831.2(AHI1):c.2299G>T (p.Val767Leu)

SNV
Germline

Chr6:135431282

Conflicting classifications of pathogenicity

not specified
Joubert syndrome
Retinal dystrophy
Joubert syndrome 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4012400

rs_755688765

5 SubmittersRCV000249307 RCV001034978 RCV004816458 RCV005031834 RCV005251108

NM_001134831.2(AHI1):c.2493-2A>G

SNV
Germline

Chr6:135428761

Pathogenic/Likely pathogenic

Condition: not provided
Joubert syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA10588410

rs_886039465

2 SubmittersRCV000255603 RCV005044513

NM_001134831.2(AHI1):c.986G>T (p.Arg329Leu)

SNV
Germline

Chr6:135457659

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Joubert syndrome 3
AHI1-related disorder

Criteria Provided
Conflicting Classifications

CA4012693

rs_139944375

6 SubmittersRCV000313832 RCV000357466 RCV001095106 RCV003930096

NM_001134831.2(AHI1):c.2294C>T (p.Thr765Ile)

SNV
Germline

Chr6:135431287

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

CA4012402

rs_200017073

3 SubmittersRCV000366873 RCV001049633 RCV002502139

NM_001134831.2(AHI1):c.3159A>T (p.Ala1053=)

SNV
Germline

Chr6:135358138

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA4012098

rs_143485622

2 SubmittersRCV000348115 RCV001424639

NM_001134831.2(AHI1):c.3542G>A (p.Arg1181Gln)

SNV
Germline

Chr6:135290469

Conflicting classifications of pathogenicity

Joubert syndrome 3
Joubert syndrome
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4011958

rs_200368187

4 SubmittersRCV000310232 RCV001309958 RCV002523549 RCV004591129

NM_001134831.2(AHI1):c.2784A>T (p.Glu928Asp)

SNV
Germline

Chr6:135411525

Conflicting classifications of pathogenicity

Joubert syndrome 3
Joubert syndrome
not specified

Criteria Provided
Conflicting Classifications

CA4012263

rs_538724792

3 SubmittersRCV000263339 RCV002058557 RCV001821082

NM_001134831.2(AHI1):c.2765-9T>C

SNV
Germline

Chr6:135411553

Conflicting classifications of pathogenicity

Joubert syndrome
Joubert syndrome 3
AHI1-related disorder

Criteria Provided
Conflicting Classifications

CA10623025

rs_374852342

3 SubmittersRCV000316321 RCV001095063 RCV004752876

NM_001134831.2(AHI1):c.73G>A (p.Asp25Asn)

SNV
Germline

Chr6:135490685

Conflicting classifications of pathogenicity

Joubert syndrome 3
Condition: not provided
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA4012962

rs_201590073

3 SubmittersRCV000367907 RCV000998690 RCV001225876

NM_001134831.2(AHI1):c.2814A>G (p.Pro938=)

SNV
Germline

Chr6:135411495

Conflicting classifications of pathogenicity

Joubert syndrome 3
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA4012259

rs_775305093

2 SubmittersRCV000355866 RCV003597974

NM_001134831.2(AHI1):c.282G>A (p.Thr94=)

SNV
Germline

Chr6:135466281

Conflicting classifications of pathogenicity

Joubert syndrome 3
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA4012856

rs_760858792

2 SubmittersRCV000331656 RCV001464785

NM_001134831.2(AHI1):c.3486-4A>G

SNV
Germline

Chr6:135290529

Conflicting classifications of pathogenicity

Joubert syndrome 3
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA4011968

rs_534053819

2 SubmittersRCV000362625 RCV001462127

NM_001134831.2(AHI1):c.1788T>C (p.Arg596=)

SNV
Germline

Chr6:135442706

Conflicting classifications of pathogenicity

Joubert syndrome 3
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA4012505

rs_548478362

2 SubmittersRCV000346082 RCV001850882

NM_001134831.2(AHI1):c.1680A>G (p.Pro560=)

SNV
Germline

Chr6:135447107

Conflicting classifications of pathogenicity

Joubert syndrome 3
Condition: not provided
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA4012546

rs_200949030

4 SubmittersRCV000301551 RCV000592685 RCV001514341

NM_001134831.2(AHI1):c.1311T>G (p.Ser437=)

SNV
Germline

Chr6:135455767

Conflicting classifications of pathogenicity

Joubert syndrome 3
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA10626076

rs_886061112

2 SubmittersRCV000390774 RCV005055927

NM_001134831.2(AHI1):c.2831A>G (p.Gln944Arg)

SNV
Germline

Chr6:135411478

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Inborn genetic diseases
Optic atrophy

Criteria Provided
Conflicting Classifications

CA4012255

rs_142704960

4 SubmittersRCV000429829 RCV000549669 RCV002524707 RCV004816653

NM_001134831.2(AHI1):c.3033A>G (p.Ser1011=)

SNV
Germline

Chr6:135394852

Conflicting classifications of pathogenicity

not specified
Joubert syndrome
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

CA4012185

rs_372030704

3 SubmittersRCV000433769 RCV000863967 RCV001154601

NM_001134831.2(AHI1):c.2609G>A (p.Trp870Ter)

SNV
Germline

Chr6:135428643

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16604857

rs_1057524843

1 SubmittersRCV000426607

NM_001134831.2(AHI1):c.1533T>G (p.Val511=)

SNV
Germline

Chr6:135448383

Conflicting classifications of pathogenicity

not specified
Joubert syndrome
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

CA4012570

rs_373669500

4 SubmittersRCV000429239 RCV000468650 RCV002488945

NM_001134831.2(AHI1):c.493G>A (p.Val165Ile)

SNV
Germline

Chr6:135466070

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4012820

rs_755936005

3 SubmittersRCV000418241 RCV001865374 RCV006659468

NM_001134831.2(AHI1):c.400C>T (p.Pro134Ser)

SNV
Germline

Chr6:135466163

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Joubert syndrome 3
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4012837

rs_368077581

4 SubmittersRCV000427341 RCV000527501 RCV001151771 RCV004975505

NM_001134831.2(AHI1):c.3503A>G (p.Glu1168Gly)

SNV
Germline

Chr6:135290508

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 3
Joubert syndrome
Intellectual disability
Condition: not provided
AHI1-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA4011964

rs_199578341

10 SubmittersRCV000445026 RCV000764640 RCV000701724 RCV001252129 RCV003431002 RCV003932665 RCV004816662

NM_001134831.2(AHI1):c.3196C>T (p.Arg1066Ter)

SNV
Germline

Chr6:135323294

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Joubert syndrome 1
Joubert syndrome
Rod-cone dystrophy
not specified
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

CA4012074

rs_780163791

9 SubmittersRCV000424420 RCV001075600 RCV000987784 RCV001047025 RCV001376231 RCV003114537 RCV005044633

NM_001134831.2(AHI1):c.2714G>C (p.Cys905Ser)

SNV
Germline

Chr6:135427217

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Retinal dystrophy
not specified
AHI1-related disorder
Intellectual disability

Criteria Provided
Conflicting Classifications

CA4012295

rs_199879855

6 SubmittersRCV000427065 RCV001083343 RCV001074633 RCV003317208 RCV004752894 RCV005625602

NM_001134831.2(AHI1):c.1205C>T (p.Pro402Leu)

SNV
Germline

Chr6:135455873

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16605460

rs_1057524842

1 SubmittersRCV000443953

NM_001134831.2(AHI1):c.1912+5G>T

SNV
Germline

Chr6:135442577

Pathogenic

Leber congenital amaurosis

No Assertion Criteria Provided

CA658657626

rs_1554347012

1 SubmittersRCV000515724

NM_001134831.2(AHI1):c.1415G>A (p.Arg472Gln)

SNV
Germline

Chr6:135453366

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Joubert syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4012599

rs_770605375

4 SubmittersRCV000499488 RCV000767140 RCV001238586 RCV002524145

NM_001134831.2(AHI1):c.983G>T (p.Ser328Ile)

SNV
Germline

Chr6:135457662

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Joubert syndrome
Joubert syndrome 3
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4012695

rs_777420094

5 SubmittersRCV000502871 RCV000766367 RCV003495140 RCV005034040 RCV005831613

NM_001134831.2(AHI1):c.2429C>T (p.Pro810Leu)

SNV
Unknown

Chr6:135429945

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA365742781

rs_1554338016

1 SubmittersRCV000504989

NM_001134831.2(AHI1):c.653A>G (p.Tyr218Cys)

SNV
Germline

Chr6:135465910

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Joubert syndrome 3
not specified
AHI1-related disorder

Criteria Provided
Conflicting Classifications

CA4012791

rs_183936286

5 SubmittersRCV000514800 RCV001088814 RCV001157234 RCV002222540 RCV003915428

NM_001134831.2(AHI1):c.221T>A (p.Ile74Asn)

SNV
Germline

Chr6:135466342

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Joubert syndrome 3
Inborn genetic diseases
AHI1-related disorder

Criteria Provided
Conflicting Classifications

CA4012871

rs_370059449

6 SubmittersRCV000518979 RCV001295361 RCV003139738 RCV004023597 RCV004752934

NM_001134831.2(AHI1):c.83G>A (p.Arg28His)

SNV
Germline

Chr6:135490675

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

CA4012956

rs_36115433

3 SubmittersRCV000522733 RCV002528251 RCV002476066

NM_001134831.2(AHI1):c.2106G>A (p.Thr702=)

SNV
Germline

Chr6:135433187

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA452214747

rs_1276908141

1 SubmittersRCV000534772

NM_001134831.2(AHI1):c.708A>G (p.Lys236=)

SNV
Germline

Chr6:135465855

Conflicting classifications of pathogenicity

Joubert syndrome
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

CA4012782

rs_368281930

2 SubmittersRCV000542081 RCV001157233

NM_001134831.2(AHI1):c.2988+6T>C

SNV
Germline

Chr6:135404945

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Joubert syndrome
Intellectual disability

Criteria Provided
Conflicting Classifications

CA4012199

rs_751303913

4 SubmittersRCV000585422 RCV001199637 RCV005091526 RCV005629854

NM_001134831.2(AHI1):c.3165+1G>A

SNV
Germline

Chr6:135358131

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

CA365840741

rs_1448108151

2 SubmittersRCV000593380 RCV005034161

NM_001134831.2(AHI1):c.3535G>T (p.Asp1179Tyr)

SNV
Germline

Chr6:135290476

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
Joubert syndrome 3
AHI1-related disorder

Criteria Provided
Conflicting Classifications

CA4011960

rs_188583221

4 SubmittersRCV000608290 RCV000861193 RCV001157000 RCV003980163

NM_001134831.2(AHI1):c.9A>G (p.Thr3=)

SNV
Germline

Chr6:135492229

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome
AHI1-related disorder

Criteria Provided
Conflicting Classifications

CA4012991

rs_761022642

4 SubmittersRCV001697857 RCV001868049 RCV004752970

NM_001134831.2(AHI1):c.2105C>T (p.Thr702Met)

SNV
Germline

Chr6:135433188

Pathogenic/Likely pathogenic

Joubert syndrome
Joubert syndrome and related disorders
Condition: not provided
Joubert syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA4012440

rs_756276537

5 SubmittersRCV000688299 RCV002298739 RCV003317340 RCV005034295

NM_001134831.2(AHI1):c.1070C>G (p.Ser357Ter)

SNV
Germline

Chr6:135457575

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA365747748

rs_1562219266

1 SubmittersRCV000760628

NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter)

SNV
Germline

Chr6:135394853

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa
Joubert syndrome
Joubert syndrome 3
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA4012186

rs_777215595

10 SubmittersRCV000762434 RCV001073854 RCV001002862 RCV001237047 RCV001785719 RCV004702399

NM_001134831.2(AHI1):c.2623+1G>T

SNV
Germline

Chr6:135428628

Pathogenic

Joubert syndrome 3
Joubert syndrome 1
Joubert syndrome
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365741985

rs_751823180

5 SubmittersRCV000791182 RCV000987786 RCV001856246 RCV004818031

NM_001134831.2(AHI1):c.1458A>T (p.Gly486=)

SNV
Germline

Chr6:135448458

Conflicting classifications of pathogenicity

Joubert syndrome
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

CA4012587

rs_371835751

2 SubmittersRCV000805329 RCV001155543

NM_001134831.2(AHI1):c.2492+1G>A

SNV
Germline

Chr6:135429881

Pathogenic/Likely pathogenic

Joubert syndrome
Condition: not provided
Joubert syndrome and related disorders
Joubert syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA4012367

rs_187245292

4 SubmittersRCV000819382 RCV000998688 RCV004768701 RCV005036211

NM_001134831.2(AHI1):c.1304G>A (p.Arg435Gln)

SNV
Germline

Chr6:135455774

Conflicting classifications of pathogenicity

Joubert syndrome
Joubert syndrome 3
Condition: not provided
Type 2 diabetes mellitus

Criteria Provided
Conflicting Classifications

CA4012624

rs_545841352

4 SubmittersRCV000862128 RCV001155544 RCV002225753 RCV005626241

NM_001134831.2(AHI1):c.3329-7A>G

SNV
Germline

Chr6:135318623

Conflicting classifications of pathogenicity

Joubert syndrome
Condition: not provided
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

CA4012037

rs_370808684

3 SubmittersRCV000862144 RCV003148888 RCV005047131

NM_001134831.2(AHI1):c.1779G>T (p.Gln593His)

SNV
Unknown

Chr6:135447008

Likely pathogenic

Joubert syndrome 1

Criteria Provided
Single Submitter

CA365744706

rs_1583276758

1 SubmittersRCV000987789

NM_001134831.2(AHI1):c.3478A>G (p.Met1160Val)

SNV
Germline

Chr6:135300507

Conflicting classifications of pathogenicity

Joubert syndrome
Joubert syndrome 3
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4011995

rs_200250333

3 SubmittersRCV001062557 RCV002505633 RCV004619504

NM_001134831.2(AHI1):c.2920A>G (p.Thr974Ala)

SNV
Germline

Chr6:135411389

Conflicting classifications of pathogenicity

Joubert syndrome
Inborn genetic diseases
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

CA4012239

rs_774471595

3 SubmittersRCV001044262 RCV002553110 RCV005036322

NM_001134831.2(AHI1):c.2671C>T (p.Arg891Ter)

SNV
Germline

Chr6:135427260

Pathogenic/Likely pathogenic

Joubert syndrome
Retinal dystrophy
Joubert syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA365741327

rs_1355690902

4 SubmittersRCV001064140 RCV001075354 RCV001254914

NM_001134831.2(AHI1):c.1642C>T (p.Arg548Cys)

SNV
Germline

Chr6:135447145

Conflicting classifications of pathogenicity

Joubert syndrome
Joubert syndrome 3
Inborn genetic diseases
AHI1-related disorder

Criteria Provided
Conflicting Classifications

CA4012550

rs_553366477

4 SubmittersRCV001051404 RCV002497403 RCV004619491 RCV004731083

NM_001134831.2(AHI1):c.1013T>G (p.Leu338Trp)

SNV
Germline

Chr6:135457632

Conflicting classifications of pathogenicity

Joubert syndrome
Retinal dystrophy
Condition: not provided
not specified
Inborn genetic diseases
Intellectual disability

Criteria Provided
Conflicting Classifications

CA4012684

rs_201790260

6 SubmittersRCV001063689 RCV001074632 RCV002511028 RCV003317426 RCV002553946 RCV005626321

NM_001134831.2(AHI1):c.827C>G (p.Ser276Cys)

SNV
Germline

Chr6:135463229

Conflicting classifications of pathogenicity

Joubert syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4012747

rs_190854744

2 SubmittersRCV001045973 RCV001546265

NM_001134831.2(AHI1):c.428C>T (p.Pro143Leu)

SNV
Germline

Chr6:135466135

Conflicting classifications of pathogenicity

Joubert syndrome
Condition: not provided
Joubert syndrome 3
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA365751692

rs_192524061

4 SubmittersRCV001066257 RCV002067723 RCV002482100 RCV004030603

NM_001134831.2(AHI1):c.279C>T (p.Ser93=)

SNV
Germline

Chr6:135466284

Conflicting classifications of pathogenicity

Joubert syndrome
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

CA4012858

rs_1205189543

2 SubmittersRCV001054332 RCV002489634

NM_001134831.2(AHI1):c.199A>G (p.Ile67Val)

SNV
Germline

Chr6:135466364

Conflicting classifications of pathogenicity

Joubert syndrome
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4012876

rs_369012543

3 SubmittersRCV001038507 RCV004973259 RCV005225213

NM_001134831.2(AHI1):c.2623+1G>A

SNV
Germline

Chr6:135428628

Pathogenic

Joubert syndrome
Joubert syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA4012333

rs_751823180

2 SubmittersRCV001045000 RCV005036325

NM_001134831.2(AHI1):c.749+1G>C

SNV
Germline

Chr6:135465813

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365750341

rs_780069818

1 SubmittersRCV001054276

NM_001134831.2(AHI1):c.3364C>T (p.Arg1122Ter)

SNV
Germline

Chr6:135318581

Conflicting classifications of pathogenicity

Retinal dystrophy
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA365844346

rs_1487081231

2 SubmittersRCV001075548 RCV001227900

NM_001134831.2(AHI1):c.2483A>C (p.Asp828Ala)

SNV
Germline

Chr6:135429891

Conflicting classifications of pathogenicity

Retinal dystrophy
Joubert syndrome 3
Joubert syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA365742550

rs_1784406093

4 SubmittersRCV001075578 RCV002497491 RCV002554762 RCV005328532

NM_001134831.2(AHI1):c.1811C>G (p.Ser604Ter)

SNV
Germline

Chr6:135442683

Pathogenic/Likely pathogenic

Retinal dystrophy
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA365744623

rs_781198326

2 SubmittersRCV001075547 RCV001862852

NM_001134831.2(AHI1):c.1483C>T (p.Arg495Cys)

SNV
Germline

Chr6:135448433

Conflicting classifications of pathogenicity

Retinal dystrophy
Joubert syndrome
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

CA148136846

rs_891261493

3 SubmittersRCV001074158 RCV001862819 RCV005047294

NM_001134831.2(AHI1):c.1301T>C (p.Leu434Pro)

SNV
Germline

Chr6:135455777

Conflicting classifications of pathogenicity

Retinal dystrophy
Joubert syndrome
Condition: not provided
not specified
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

CA4012626

rs_771603649

5 SubmittersRCV001073851 RCV001216660 RCV002281158 RCV004526080 RCV005036388

NM_001134831.2(AHI1):c.3291G>A (p.Gln1097=)

SNV
Germline

Chr6:135323199

Conflicting classifications of pathogenicity

Joubert syndrome 3
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA4012052

rs_756637497

2 SubmittersRCV001151589 RCV003769723

NM_001134831.2(AHI1):c.2567C>G (p.Thr856Ser)

SNV
Germline

Chr6:135428685

Conflicting classifications of pathogenicity

Joubert syndrome 3
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA4012340

rs_199736888

4 SubmittersRCV001157116 RCV001206691

NM_001134831.2(AHI1):c.1694G>A (p.Arg565His)

SNV
Germline

Chr6:135447093

Conflicting classifications of pathogenicity

Joubert syndrome 3
Joubert syndrome
Condition: not provided
Joubert syndrome
Nephronophthisis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4012542

rs_372894716

8 SubmittersRCV001154712 RCV001321179 RCV001586010 RCV005253726 RCV005831786

NM_001134831.2(AHI1):c.459A>C (p.Thr153=)

SNV
Germline

Chr6:135466104

Conflicting classifications of pathogenicity

Joubert syndrome 3
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA4012826

rs_531024131

2 SubmittersRCV001151770 RCV001516742

NM_001134831.2(AHI1):c.2962-13G>A

SNV
Germline

Chr6:135404990

Conflicting classifications of pathogenicity

Joubert syndrome 3
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA148542864

rs_927158679

2 SubmittersRCV001154604 RCV002070893

NM_001134831.2(AHI1):c.189+12T>C

SNV
Germline

Chr6:135467569

Conflicting classifications of pathogenicity

Joubert syndrome 3
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA4012899

rs_199617785

2 SubmittersRCV001151772 RCV002070839

NM_001134831.2(AHI1):c.2037-1G>C

SNV
Germline

Chr6:135433257

Pathogenic

Joubert syndrome 3

Criteria Provided
Single Submitter

CA365743853

rs_1784918128

1 SubmittersRCV001175180

NM_001134831.2(AHI1):c.484C>T (p.Gln162Ter)

SNV
Germline

Chr6:135466079

Pathogenic/Likely pathogenic

Joubert syndrome
Joubert syndrome 3
Joubert syndrome and related disorders
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA365751567

rs_1270654737

4 SubmittersRCV001204778 RCV002491618 RCV003492229 RCV004813856

NM_001134831.2(AHI1):c.1148A>G (p.Asp383Gly)

SNV
Germline

Chr6:135457497

Likely pathogenic

Joubert syndrome 3

Criteria Provided
Single Submitter

CA365747470

rs_1789162289

1 SubmittersRCV001250414

NM_001134831.2(AHI1):c.2266G>T (p.Gly756Cys)

SNV
Germline

Chr6:135433027

Conflicting classifications of pathogenicity

Joubert syndrome 3
Joubert syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4012414

rs_376754552

4 SubmittersRCV001252131 RCV002570490 RCV004774362

NM_001134831.2(AHI1):c.1828C>T (p.Arg610Ter)

SNV
Germline

Chr6:135442666

Pathogenic

Joubert syndrome 3
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA4012501

rs_751734985

5 SubmittersRCV001264829 RCV002541620

NM_001134831.2(AHI1):c.2246C>G (p.Ser749Ter)

SNV
Germline

Chr6:135433047

Pathogenic

Nephronophthisis
Joubert syndrome
Retinal disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA148122329

rs_766069291

3 SubmittersRCV001328118 RCV002537719 RCV006646512

NM_001134831.2(AHI1):c.2548A>G (p.Thr850Ala)

SNV
Germline

Chr6:135428704

Conflicting classifications of pathogenicity

Joubert syndrome
Condition: not provided
Inborn genetic diseases
See cases
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

CA4012344

rs_779509262

5 SubmittersRCV001306007 RCV002255179 RCV002543146 RCV003232295 RCV005040158

NM_001134831.2(AHI1):c.395C>T (p.Thr132Met)

SNV
Germline

Chr6:135466168

Conflicting classifications of pathogenicity

Joubert syndrome
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

CA4012839

rs_756217962

2 SubmittersRCV001324809 RCV005038079

NM_001134831.2(AHI1):c.2361G>A (p.Trp787Ter)

SNV
Germline

Chr6:135431220

Pathogenic

Joubert syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA365743125

rs_863225146

2 SubmittersRCV001330966

NM_001134831.2(AHI1):c.2873A>G (p.Gln958Arg)

SNV
Germline

Chr6:135411436

Conflicting classifications of pathogenicity

Joubert syndrome
Joubert syndrome 3
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4012249

rs_201771478

4 SubmittersRCV001342169 RCV002493753 RCV003319466 RCV004035984

NM_001134831.2(AHI1):c.2794C>T (p.Arg932Cys)

SNV
Germline

Chr6:135411515

Conflicting classifications of pathogenicity

Joubert syndrome
Condition: not provided
Inborn genetic diseases
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

CA4012262

rs_370101143

4 SubmittersRCV001348147 RCV001357865 RCV004036541 RCV005038109

NM_001134831.2(AHI1):c.2209G>A (p.Val737Ile)

SNV
Germline

Chr6:135433084

Conflicting classifications of pathogenicity

Joubert syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA365743477

rs_1227775795

2 SubmittersRCV001340443 RCV003246905

NM_001134831.2(AHI1):c.1045A>G (p.Ile349Val)

SNV
Germline

Chr6:135457600

Conflicting classifications of pathogenicity

Joubert syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4012680

rs_748804342

2 SubmittersRCV001366016 RCV002550058

NM_001134831.2(AHI1):c.2492+5G>A

SNV
Germline

Chr6:135429877

Likely pathogenic

Joubert syndrome 3

Criteria Provided
Single Submitter

CA2499218110

rs_2128012406

1 SubmittersRCV001726494

NM_001134831.2(AHI1):c.3235C>T (p.Arg1079Ter)

SNV
Germline

Chr6:135323255

Pathogenic/Likely pathogenic

Rod-cone dystrophy
Joubert syndrome 3
Joubert syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA4012062

rs_761732432

4 SubmittersRCV001376376 RCV002493913 RCV002550234 RCV005256786

NM_001134831.2(AHI1):c.2623+2T>A

SNV
Germline

Chr6:135428627

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365741981

rs_2128009190

1 SubmittersRCV001379984

NM_001134831.2(AHI1):c.1151+1G>A

SNV
Germline

Chr6:135457493

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365747447

rs_2128081334

1 SubmittersRCV001377083

NM_001134831.2(AHI1):c.1583C>A (p.Ser528Ter)

SNV
Germline

Chr6:135448333

Pathogenic/Likely pathogenic

Joubert syndrome
Joubert syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA365745144

rs_2128058828

2 SubmittersRCV001382196 RCV005038183

NM_001134831.2(AHI1):c.1166C>G (p.Ser389Ter)

SNV
Germline

Chr6:135455912

Pathogenic/Likely pathogenic

Joubert syndrome
Joubert syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA4012642

rs_761388040

2 SubmittersRCV001386449 RCV005040259

NM_001134831.2(AHI1):c.1131A>G (p.Gln377=)

SNV
Germline

Chr6:135457514

Conflicting classifications of pathogenicity

Joubert syndrome
Condition: not provided
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

CA4012667

rs_142518256

3 SubmittersRCV001394853 RCV001773741 RCV005040273

NM_001134831.2(AHI1):c.712A>G (p.Lys238Glu)

SNV
Germline

Chr6:135465851

Conflicting classifications of pathogenicity

Joubert syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4012780

rs_748182443

2 SubmittersRCV001432227 RCV001556602

NM_001134831.2(AHI1):c.313C>T (p.Gln105Ter)

SNV
Germline

Chr6:135466250

Pathogenic/Likely pathogenic

Joubert syndrome 3
Joubert syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA4012852

rs_774628957

4 SubmittersRCV001783339 RCV006467949

NM_001134831.2(AHI1):c.1044C>A (p.Tyr348Ter)

SNV
Germline

Chr6:135457601

Pathogenic

Joubert syndrome 3

Criteria Provided
Single Submitter

CA365747804

rs_2128081591

1 SubmittersRCV001783341

NM_001134831.2(AHI1):c.136-2A>G

SNV
Germline

Chr6:135467636

Conflicting classifications of pathogenicity

Condition: not provided
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA4012910

rs_776579906

2 SubmittersRCV001787489 RCV003495258

NM_001134831.2(AHI1):c.2129G>A (p.Arg710Lys)

SNV
Germline

Chr6:135433164

Conflicting classifications of pathogenicity

Joubert syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA365743651

rs_1352407748

2 SubmittersRCV002025929 RCV005331133

NM_001134831.2(AHI1):c.1892G>A (p.Arg631Gln)

SNV
Germline

Chr6:135442602

Conflicting classifications of pathogenicity

Joubert syndrome
Condition: not provided
Joubert syndrome 3
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4012486

rs_780823419

4 SubmittersRCV001922449 RCV004693905 RCV005038461 RCV005572696

NM_001134831.2(AHI1):c.2582G>A (p.Gly861Glu)

SNV
Germline

Chr6:135428670

Conflicting classifications of pathogenicity

Joubert syndrome
not specified

Criteria Provided
Conflicting Classifications

CA365742154

rs_1217172210

2 SubmittersRCV001882058 RCV006691056

NM_001134831.2(AHI1):c.136-1G>A

SNV
Germline

Chr6:135467635

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365753773

rs_2128100946

1 SubmittersRCV002012883

NM_001134831.2(AHI1):c.3070G>A (p.Ala1024Thr)

SNV
Germline

Chr6:135394815

Conflicting classifications of pathogenicity

Joubert syndrome
Joubert syndrome 3
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4012179

rs_750383545

3 SubmittersRCV001891112 RCV002503508 RCV003247107

NM_001134831.2(AHI1):c.1981T>C (p.Ser661Pro)

SNV
Germline

Chr6:135438430

Pathogenic/Likely pathogenic

Joubert syndrome
Joubert syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA365744245

rs_1785745572

3 SubmittersRCV001975210 RCV003987946

NM_001134831.2(AHI1):c.2989-2A>G

SNV
Germline

Chr6:135394898

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365843932

rs_2128485171

1 SubmittersRCV001971717

NM_001134831.2(AHI1):c.1493T>C (p.Leu498Pro)

SNV
Germline

Chr6:135448423

Conflicting classifications of pathogenicity

Joubert syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA365745520

rs_2128059170

2 SubmittersRCV002043017 RCV005834185

NM_001134831.2(AHI1):c.478A>T (p.Lys160Ter)

SNV
Germline

Chr6:135466085

Pathogenic/Likely pathogenic

Joubert syndrome
Joubert syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA365751580

rs_1257185309

2 SubmittersRCV001939373 RCV005031997

NM_001134831.2(AHI1):c.3200C>G (p.Ser1067Ter)

SNV
Germline

Chr6:135323290

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365845751

rs_2128384779

1 SubmittersRCV001952073

NM_001134831.2(AHI1):c.2961+2T>G

SNV
Germline

Chr6:135411346

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365845760

rs_2127973751

1 SubmittersRCV001986412

NM_001134831.2(AHI1):c.281C>T (p.Thr94Met)

SNV
Germline

Chr6:135466282

Conflicting classifications of pathogenicity

Joubert syndrome
Inborn genetic diseases
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

CA4012857

rs_373490556

3 SubmittersRCV002041018 RCV003348766 RCV002498064

NM_001134831.2(AHI1):c.2036+6T>G

SNV
Germline

Chr6:135438369

Conflicting classifications of pathogenicity

Joubert syndrome 3
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA2573130303

rs_2128037867

2 SubmittersRCV002273329 RCV005095980

NM_001134831.2(AHI1):c.2261C>T (p.Thr754Ile)

SNV
Germline

Chr6:135433032

Conflicting classifications of pathogenicity

Inborn genetic diseases
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA365743360

rs_1784886281

2 SubmittersRCV003041276 RCV003058523

NM_001134831.2(AHI1):c.1580C>T (p.Pro527Leu)

SNV
Germline

Chr6:135448336

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA4012564

rs_750264231

1 SubmittersRCV002574134

NM_001134831.2(AHI1):c.2081T>G (p.Leu694Ter)

SNV
Germline

Chr6:135433212

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365743747

rs_1179403052

1 SubmittersRCV002621718

NM_001134831.2(AHI1):c.932-7C>T

SNV
Germline

Chr6:135457720

Conflicting classifications of pathogenicity

Joubert syndrome
AHI1-related disorder
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

CA4012706

rs_773551361

3 SubmittersRCV002766666 RCV003943496 RCV005034413

NM_001134831.2(AHI1):c.3426+2T>C

SNV
Germline

Chr6:135318517

Likely pathogenic

Joubert syndrome
Joubert syndrome and related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA148533165

rs_893650468

2 SubmittersRCV002881396 RCV003492784

NM_001134831.2(AHI1):c.2493-1G>T

SNV
Germline

Chr6:135428760

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365742450

rs_1178479782

1 SubmittersRCV002866503

NM_001134831.2(AHI1):c.2961+1G>A

SNV
Germline

Chr6:135411347

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365845764

rs_1781562565

1 SubmittersRCV002904493

NM_001134831.2(AHI1):c.3440A>G (p.Lys1147Arg)

SNV
Germline

Chr6:135300545

Conflicting classifications of pathogenicity

Joubert syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4012000

rs_763126846

2 SubmittersRCV002947355 RCV003170602

NM_001134831.2(AHI1):c.1553G>A (p.Trp518Ter)

SNV
Germline

Chr6:135448363

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365745262

rs_2484787497

1 SubmittersRCV002967842

NM_001134831.2(AHI1):c.2773C>T (p.Gln925Ter)

SNV
Germline

Chr6:135411536

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365846239

rs_2484272408

1 SubmittersRCV002976426

NM_001134831.2(AHI1):c.3110-1G>A

SNV
Germline

Chr6:135358188

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365840960

rs_2483589449

1 SubmittersRCV002995501

NM_001134831.2(AHI1):c.3289C>T (p.Gln1097Ter)

SNV
Germline

Chr6:135323201

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365845518

rs_1457793607

1 SubmittersRCV003046624

NM_001134831.2(AHI1):c.940A>G (p.Asn314Asp)

SNV
Germline

Chr6:135457705

Conflicting classifications of pathogenicity

Joubert syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA365748032

rs_1789198105

2 SubmittersRCV003052376 RCV003294402

NM_001134831.2(AHI1):c.1985G>A (p.Trp662Ter)

SNV
Germline

Chr6:135438426

Likely pathogenic

Joubert syndrome and related disorders

Criteria Provided
Single Submitter

CA365744237

rs_1221909332

1 SubmittersRCV003155656

NM_001134831.2(AHI1):c.2266+1G>A

SNV
Germline

Chr6:135433026

Pathogenic

Joubert syndrome 3

Criteria Provided
Single Submitter

CA4012413

rs_774144071

1 SubmittersRCV003335818

NM_001134831.2(AHI1):c.2155G>C (p.Asp719His)

SNV
Germline

Chr6:135433138

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365743594

rs_2484604421

1 SubmittersRCV003495404

NM_001134831.2(AHI1):c.1660C>T (p.Gln554Ter)

SNV
Germline

Chr6:135447127

Pathogenic/Likely pathogenic

Joubert syndrome
Joubert syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA148132326

rs_933648254

2 SubmittersRCV003496467 RCV005047650

NM_001134831.2(AHI1):c.2282C>G (p.Ser761Ter)

SNV
Germline

Chr6:135431299

Pathogenic

Joubert syndrome
Joubert syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA365743298

rs_794727174

2 SubmittersRCV003496547 RCV005402043

NM_001134831.2(AHI1):c.1255G>T (p.Glu419Ter)

SNV
Germline

Chr6:135455823

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365746547

rs_2484882747

1 SubmittersRCV003496449

NM_001134831.2(AHI1):c.2884C>T (p.Gln962Ter)

SNV
Germline

Chr6:135411425

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365845997

rs_2484269420

1 SubmittersRCV003497135

NM_001134831.2(AHI1):c.1779+1G>A

SNV
Germline

Chr6:135447007

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA4012524

rs_753655744

1 SubmittersRCV003497333

NM_001134831.2(AHI1):c.2167C>G (p.Arg723Gly)

SNV
Germline

Chr6:135433126

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365743567

rs_761245375

1 SubmittersRCV003494843

NM_001134831.2(AHI1):c.1526T>A (p.Leu509Ter)

SNV
Germline

Chr6:135448390

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA4012572

rs_41288021

1 SubmittersRCV003494829

NM_001134831.2(AHI1):c.3166-1G>T

SNV
Germline

Chr6:135323325

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365845896

rs_2483268122

1 SubmittersRCV003494809

NM_001134831.2(AHI1):c.1500C>G (p.Tyr500Ter)

SNV
Germline

Chr6:135448416

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365745490

rs_769742563

1 SubmittersRCV003495721

NM_001134831.2(AHI1):c.2748T>G (p.Tyr916Ter)

SNV
Germline

Chr6:135427183

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365740890

rs_2484504701

1 SubmittersRCV003496753

NM_001134831.2(AHI1):c.11-1G>C

SNV
Germline

Chr6:135490748

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365741453

rs_2485337123

1 SubmittersRCV003598302

NM_001134831.2(AHI1):c.216C>T (p.Pro72=)

SNV
Germline

Chr6:135466347

Conflicting classifications of pathogenicity

Joubert syndrome
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

CA452430637

rs_1434415693

2 SubmittersRCV003598387 RCV005036917

NM_001134831.2(AHI1):c.2764+2T>C

SNV
Germline

Chr6:135427165

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365740740

rs_1419492897

1 SubmittersRCV003599239

NM_001134831.2(AHI1):c.1779+1G>T

SNV
Germline

Chr6:135447007

Pathogenic/Likely pathogenic

Joubert syndrome
Joubert syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA365744704

rs_753655744

2 SubmittersRCV003599192 RCV005254855

NM_001134831.2(AHI1):c.523G>T (p.Glu175Ter)

SNV
Germline

Chr6:135466040

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365751478

rs_751749918

1 SubmittersRCV003599268

NM_001134831.2(AHI1):c.2624-2A>G

SNV
Germline

Chr6:135427309

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365741501

rs_2484508005

1 SubmittersRCV003599248

NM_001134831.2(AHI1):c.856G>T (p.Glu286Ter)

SNV
Germline

Chr6:135463200

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365749115

rs_894830970

1 SubmittersRCV003599378

NM_001134831.2(AHI1):c.3110-2A>G

SNV
Germline

Chr6:135358189

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA4012109

rs_758715635

1 SubmittersRCV003599617

NM_001134831.2(AHI1):c.750-2A>G

SNV
Germline

Chr6:135463308

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365749652

rs_2484977012

1 SubmittersRCV003599409

NM_001134831.2(AHI1):c.1034T>A (p.Leu345Ter)

SNV
Germline

Chr6:135457611

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365747827

rs_2484906480

1 SubmittersRCV003599675

NM_001134831.2(AHI1):c.1777C>T (p.Gln593Ter)

SNV
Germline

Chr6:135447010

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365744711

rs_1480087006

1 SubmittersRCV003599771

NM_001134831.2(AHI1):c.2989-2A>T

SNV
Germline

Chr6:135394898

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365843928

rs_2128485171

1 SubmittersRCV003599666

NM_001134831.2(AHI1):c.3180T>A (p.Tyr1060Ter)

SNV
Germline

Chr6:135323310

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365845841

rs_2483267737

1 SubmittersRCV003599841

NM_001134831.2(AHI1):c.750-1G>A

SNV
Germline

Chr6:135463307

Likely pathogenic

Joubert syndrome
Joubert syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA365749644

rs_2484976975

2 SubmittersRCV003597671 RCV005036950

NM_001134831.2(AHI1):c.2295A>G (p.Thr765=)

SNV
Germline

Chr6:135431286

Conflicting classifications of pathogenicity

Joubert syndrome
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

CA452213531

rs_1171943827

2 SubmittersRCV003597615 RCV005036946

NM_001134831.2(AHI1):c.2042G>A (p.Trp681Ter)

SNV
Germline

Chr6:135433251

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365743840

rs_1236041314

1 SubmittersRCV003597695

NM_001134831.2(AHI1):c.1152-19A>G

SNV
Germline

Chr6:135455945

Conflicting classifications of pathogenicity

Joubert syndrome
Joubert syndrome 3

Criteria Provided
Conflicting Classifications

CA2519695259

rs_2484885417

2 SubmittersRCV003597940 RCV005036980

NM_001134831.2(AHI1):c.3431C>G (p.Ser1144Ter)

SNV
Germline

Chr6:135300554

Pathogenic/Likely pathogenic

Joubert syndrome
Joubert syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA148531303

rs_982379114

2 SubmittersRCV003597811 RCV005036959

NM_001134831.2(AHI1):c.2929C>T (p.Gln977Ter)

SNV
Germline

Chr6:135411380

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365845887

rs_1307676365

1 SubmittersRCV003598590

NM_001134831.2(AHI1):c.3088C>T (p.Gln1030Ter)

SNV
Germline

Chr6:135394797

Pathogenic/Likely pathogenic

Joubert syndrome
Joubert syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA365843599

rs_2484034993

2 SubmittersRCV003598810 RCV005038502

NM_001134831.2(AHI1):c.3421C>T (p.Gln1141Ter)

SNV
Germline

Chr6:135318524

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365844112

rs_2483216049

1 SubmittersRCV003822241

NM_001134831.2(AHI1):c.3486-2A>T

SNV
Germline

Chr6:135290527

Likely pathogenic

Joubert syndrome
Joubert syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA365840991

rs_1412515128

2 SubmittersRCV003822161 RCV005038547

NM_001134831.2(AHI1):c.3427-1G>A

SNV
Germline

Chr6:135300559

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365841365

rs_2483057578

1 SubmittersRCV003856467

NM_001134831.2(AHI1):c.1913-1G>A

SNV
Germline

Chr6:135438499

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

CA365744401

rs_1785757537

1 SubmittersRCV003851986

NM_001134831.2(AHI1):c.1152-1G>A

SNV
Germline

Chr6:135455927

Pathogenic/Likely pathogenic

Joubert syndrome
Joubert syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA365746783

rs_1344854036

2 SubmittersRCV003880498 RCV005040610

NM_001134831.2(AHI1):c.1399C>T (p.Gln467Ter)

SNV
Germline

Chr6:135453382

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV004812240

NM_001134831.2(AHI1):c.3486-1G>T

SNV
Germline

Chr6:135290526

Likely pathogenic

Joubert syndrome 3

Criteria Provided
Single Submitter

1 SubmittersRCV005045567

NM_001134831.2(AHI1):c.3486-2A>G

SNV
Germline

Chr6:135290527

Likely pathogenic

Joubert syndrome 3

Criteria Provided
Single Submitter

1 SubmittersRCV005037905

NM_001134831.2(AHI1):c.3328+1G>T

SNV
Germline

Chr6:135323161

Likely pathogenic

Joubert syndrome 3

Criteria Provided
Single Submitter

1 SubmittersRCV005045569

NM_001134831.2(AHI1):c.3166-2A>G

SNV
Germline

Chr6:135323326

Likely pathogenic

Joubert syndrome 3

Criteria Provided
Single Submitter

1 SubmittersRCV005037912

NM_001134831.2(AHI1):c.2277G>A (p.Met759Ile)

SNV
Germline

Chr6:135431304

Likely pathogenic

Joubert syndrome 3

Criteria Provided
Single Submitter

1 SubmittersRCV005037932

NM_001134831.2(AHI1):c.1550G>A (p.Trp517Ter)

SNV
Germline

Chr6:135448366

Pathogenic

Joubert syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005037939

NM_001134831.2(AHI1):c.1427G>A (p.Trp476Ter)

SNV
Germline

Chr6:135453354

Likely pathogenic

Joubert syndrome 3

Criteria Provided
Single Submitter

1 SubmittersRCV005037944

NM_001134831.2(AHI1):c.932-1G>C

SNV
Germline

Chr6:135457714

Likely pathogenic

Joubert syndrome 3

Criteria Provided
Single Submitter

1 SubmittersRCV005037948

NM_001134831.2(AHI1):c.812C>A (p.Ser271Ter)

SNV
Germline

Chr6:135463244

Likely pathogenic

Joubert syndrome 3

Criteria Provided
Single Submitter

1 SubmittersRCV005045581

NM_001134831.2(AHI1):c.135+1G>C

SNV
Germline

Chr6:135490622

Likely pathogenic

Joubert syndrome 3

Criteria Provided
Single Submitter

1 SubmittersRCV005037968

NM_001134831.2(AHI1):c.643C>T (p.Gln215Ter)

SNV
Germline

Chr6:135465920

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005119584

NM_001134831.2(AHI1):c.3014C>G (p.Ser1005Ter)

SNV
Germline

Chr6:135394871

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005130296

NM_001134831.2(AHI1):c.2989-1G>A

SNV
Germline

Chr6:135394897

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005167821

NM_001134831.2(AHI1):c.3426+1G>A

SNV
Germline

Chr6:135318518

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005183178

NM_001134831.2(AHI1):c.576T>A (p.Tyr192Ter)

SNV
Germline

Chr6:135465987

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005183035

NM_001134831.2(AHI1):c.1259G>A (p.Trp420Ter)

SNV
Germline

Chr6:135455819

Pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005200587

NM_001134831.2(AHI1):c.2623+1G>C

SNV
Germline

Chr6:135428628

Likely pathogenic

Joubert syndrome and related disorders

Criteria Provided
Single Submitter

1 SubmittersRCV005239811

NM_001134831.2(AHI1):c.1760G>A (p.Trp587Ter)

SNV
Germline

Chr6:135447027

Pathogenic/Likely pathogenic

Joubert syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005253377

NM_001134831.2(AHI1):c.10+1G>C

SNV
Germline

Chr6:135492227

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006514441

NM_001134831.2(AHI1):c.1627-1G>C

SNV
Germline

Chr6:135447161

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006542654

NM_001134831.2(AHI1):c.2373+1G>A

SNV
Germline

Chr6:135431207

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006541672

NM_001134831.2(AHI1):c.189+1G>T

SNV
Germline

Chr6:135467580

Likely pathogenic

Joubert syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006581112

NM_001134831.2(AHI1):c.3110-1G>C

SNV
Germline

Chr6:135358188

Likely pathogenic

Joubert syndrome 3

Criteria Provided
Single Submitter

1 SubmittersRCV006707266