Tmem67 Variant Search Result - Rat Genome Database

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More than 1000 records found for search term Tmem67 (Displaying 1000)
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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
329952034	CV2668775	single nucleotide variant	NM_153704.6(TMEM67):c.-1C>T	not specified [RCV003230856]	uncertain significance	8	93754914	93754914	Human		name
13537248	CV502802	single nucleotide variant	NM_153704.6(TMEM67):c.-4T>G	not specified [RCV000610144]	likely benign	8	93754911	93754911	Human		name
11544957	CV253213	single nucleotide variant	NM_153704.6(TMEM67):c.*19T>C	Joubert syndrome 6 [RCV001169401]\|Meckel syndrome, type 3 [RCV001169403]\|Nephronophthisis 11 [RCV001169402]\|not provided [RCV001640582]\|not specified [RCV000244490]	benign\|likely benign	8	93816471	93816471	Human	3	name
28887657	CV900541	single nucleotide variant	NM_153704.6(TMEM67):c.*25C>T	Joubert syndrome 6 [RCV001169406]\|Meckel syndrome, type 3 [RCV001169404]\|Nephronophthisis 11 [RCV001169405]	uncertain significance	8	93816477	93816477	Human	3	name
11645217	CV310037	single nucleotide variant	NM_153704.6(TMEM67):c.*218T>C	Joubert syndrome 6 [RCV000264369]\|Meckel syndrome, type 3 [RCV000310285]\|Nephronophthisis 11 [RCV000364910]	uncertain significance	8	93816670	93816670	Human	3	name
11600753	CV310038	single nucleotide variant	NM_153704.6(TMEM67):c.*852C>T	Joubert syndrome 6 [RCV000330875]\|Meckel syndrome, type 3 [RCV000385364]\|Nephronophthisis 11 [RCV000276127]	benign\|likely benign\|uncertain significance	8	93817304	93817304	Human	3	name
11652535	CV315374	single nucleotide variant	NM_153704.6(TMEM67):c.*179T>C	Joubert syndrome 6 [RCV000396652]\|Meckel syndrome, type 3 [RCV000305703]\|Nephronophthisis 11 [RCV000359170]	uncertain significance	8	93816631	93816631	Human	3	name
11646292	CV315375	single nucleotide variant	NM_153704.6(TMEM67):c.*300G>A	Joubert syndrome 6 [RCV000325228]\|Meckel syndrome, type 3 [RCV000389176]\|Nephronophthisis 11 [RCV000270141]	uncertain significance	8	93816752	93816752	Human	3	name
11612169	CV315376	single nucleotide variant	NM_153704.6(TMEM67):c.*941T>C	Joubert syndrome 6 [RCV000342667]\|Meckel syndrome, type 3 [RCV000278183]\|Nephronophthisis 11 [RCV000404988]	uncertain significance	8	93817393	93817393	Human	3	name
11652184	CV315377	single nucleotide variant	NM_153704.6(TMEM67):c.*942G>A	Joubert syndrome 6 [RCV000303605]\|Meckel syndrome, type 3 [RCV000339861]\|Nephronophthisis 11 [RCV000397175]	uncertain significance	8	93817394	93817394	Human	3	name
11606872	CV315541	single nucleotide variant	NM_153704.6(TMEM67):c.*853G>A	Joubert syndrome 6 [RCV000281572]\|Meckel syndrome, type 3 [RCV000372808]\|Nephronophthisis 11 [RCV000336633]	uncertain significance	8	93817305	93817305	Human	3	name
14724825	CV662912	single nucleotide variant	NM_153704.5(TMEM67):c.-297C>G	not provided [RCV000833157]	likely benign	8	93754618	93754618	Human		name
28877509	CV900542	single nucleotide variant	NM_153704.6(TMEM67):c.*279T>C	Joubert syndrome 6 [RCV001166457]\|Meckel syndrome, type 3 [RCV001166458]\|Nephronophthisis 11 [RCV001166456]	uncertain significance	8	93816731	93816731	Human	3	name
28879277	CV900543	single nucleotide variant	NM_153704.6(TMEM67):c.*512T>C	Joubert syndrome 6 [RCV001166991]\|Meckel syndrome, type 3 [RCV001166990]\|Nephronophthisis 11 [RCV001166992]	uncertain significance	8	93816964	93816964	Human	3	name
28879282	CV900544	single nucleotide variant	NM_153704.6(TMEM67):c.*580A>G	Joubert syndrome 6 [RCV001166994]\|Meckel syndrome, type 3 [RCV001166995]\|Nephronophthisis 11 [RCV001166993]	uncertain significance	8	93817032	93817032	Human	3	name
28885182	CV900545	single nucleotide variant	NM_153704.6(TMEM67):c.*690T>A	Joubert syndrome 6 [RCV001168700]\|Meckel syndrome, type 3 [RCV001168698]\|Nephronophthisis 11 [RCV001168699]	uncertain significance	8	93817142	93817142	Human	3	name
28885191	CV900546	single nucleotide variant	NM_153704.6(TMEM67):c.*761T>G	Joubert syndrome 6 [RCV001168701]\|Meckel syndrome, type 3 [RCV001168703]\|Nephronophthisis 11 [RCV001168702]	uncertain significance	8	93817213	93817213	Human	3	name
28885196	CV900547	single nucleotide variant	NM_153704.6(TMEM67):c.*822G>A	Joubert syndrome 6 [RCV001168704]\|Meckel syndrome, type 3 [RCV001168705]\|Nephronophthisis 11 [RCV001169469]	uncertain significance	8	93817274	93817274	Human	3	name
126731660	CV1000638	single nucleotide variant	NM_153704.6(TMEM67):c.869+3A>T	Joubert syndrome [RCV002543556]\|not provided [RCV001310633]	uncertain significance	8	93780750	93780750	Human	1	name
126914952	CV1038940	single nucleotide variant	NM_153704.6(TMEM67):c.651+5G>A	COACH syndrome 1 [RCV005040212]\|Joubert syndrome [RCV002547699]\|not specified [RCV001358730]	likely pathogenic\|uncertain significance	8	93765651	93765651	Human	2	name
127274365	CV1065669	deletion	NM_153704.6(TMEM67):c.224-3del	Nephronophthisis 11 [RCV001391147]\|not provided [RCV004692677]	uncertain significance	8	93755752	93755752	Human	1	name
150545175	CV1315462	single nucleotide variant	NM_153704.6(TMEM67):c.978+1G>A	COACH syndrome 1 [RCV005040380]\|Joubert syndrome [RCV001885192]	likely pathogenic	8	93780983	93780983	Human	2	name
151347901	CV1319040	single nucleotide variant	NM_153704.6(TMEM67):c.651+2T>C	Enlarged kidney [RCV001807679]	likely pathogenic	8	93765648	93765648	Human	2	name
151803308	CV1338446	single nucleotide variant	NM_153704.6(TMEM67):c.312+2T>G	Joubert syndrome [RCV001927395]	pathogenic	8	93755868	93755868	Human	1	name
151816740	CV1425371	single nucleotide variant	NM_153704.6(TMEM67):c.312+3G>A	Joubert syndrome [RCV001954705]	uncertain significance	8	93755869	93755869	Human	1	name
151832292	CV1449157	single nucleotide variant	NM_153704.6(TMEM67):c.407-2A>G	Joubert syndrome [RCV001986645]	likely pathogenic	8	93763840	93763840	Human	1	name
151815695	CV1490274	single nucleotide variant	NM_153704.6(TMEM67):c.978+5A>C	Joubert syndrome [RCV001952235]\|TMEM67-related disorder [RCV004538618]	likely benign\|uncertain significance	8	93780987	93780987	Human	4	name , alternate_id
151827734	CV1501359	single nucleotide variant	NM_153704.6(TMEM67):c.407-8C>G	COACH syndrome 1 [RCV005042628]\|Joubert syndrome [RCV001977387]	uncertain significance	8	93763834	93763834	Human	2	name
151830341	CV1504395	single nucleotide variant	NM_153704.6(TMEM67):c.223+9G>A	Joubert syndrome [RCV001983047]	likely benign	8	93755146	93755146	Human	1	name
152037026	CV1532218	single nucleotide variant	NM_153704.6(TMEM67):c.577-6A>G	COACH syndrome 1 [RCV002500203]\|Inborn genetic diseases [RCV003070584]\|Joubert syndrome [RCV002125506]\|TMEM67-related disorder [RCV004543868]	likely benign	8	93765566	93765566	Human	11	name , alternate_id
152136587	CV1537743	single nucleotide variant	NM_153704.6(TMEM67):c.714+7T>C	Joubert syndrome [RCV002177499]	likely benign	8	93772658	93772658	Human	1	name
152083635	CV1554758	single nucleotide variant	NM_153704.6(TMEM67):c.576+9A>G	Joubert syndrome [RCV002211749]	likely benign	8	93765484	93765484	Human	1	name
152135765	CV1587693	single nucleotide variant	NM_153704.6(TMEM67):c.715-4G>C	Joubert syndrome [RCV002083480]	likely benign	8	93780589	93780589	Human	1	name
152091682	CV1602906	single nucleotide variant	NM_153704.6(TMEM67):c.652-6T>C	Joubert syndrome [RCV002194383]	likely benign	8	93772583	93772583	Human	1	name
152103856	CV1625594	single nucleotide variant	NM_153704.6(TMEM67):c.407-6G>C	Joubert syndrome [RCV002152138]	likely benign	8	93763836	93763836	Human	1	name
8556151	CV16406	single nucleotide variant	NM_153704.6(TMEM67):c.870-2A>G	Meckel syndrome, type 3 [RCV000001432]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters	8	93780872	93780872	Human	1	name
8556157	CV16412	single nucleotide variant	NM_153704.6(TMEM67):c.651+2T>G	Joubert syndrome 6 [RCV000001439]\|Joubert syndrome [RCV001851545]\|Joubert syndrome and related disorders [RCV002281687]\|Meckel syndrome, type 3 [RCV000050199]\|TMEM67-related disorder [RCV004732520]\|not provided [RCV001698938]	pathogenic\|likely pathogenic\|uncertain significance	8	93765648	93765648	Human	6	name , alternate_id
8556163	CV16419	single nucleotide variant	NM_153704.6(TMEM67):c.312+5G>A	COACH syndrome 1 [RCV000001448]\|COACH syndrome 1 [RCV002496229]\|Joubert syndrome [RCV001388801]	pathogenic	8	93755871	93755871	Human	2	name
153000346	CV1683668	single nucleotide variant	NM_153704.6(TMEM67):c.224-2A>T	Joubert syndrome [RCV003774755]\|not provided [RCV002254123]	pathogenic\|likely pathogenic	8	93755776	93755776	Human	1	name
156186205	CV1867231	single nucleotide variant	NM_153704.6(TMEM67):c.223+1G>T	not provided [RCV002508877]	pathogenic	8	93755138	93755138	Human		name
156280314	CV1877032	single nucleotide variant	NM_153704.6(TMEM67):c.406+1G>A	Joubert syndrome [RCV003061040]	likely pathogenic	8	93758577	93758577	Human	1	name
156266417	CV1903040	single nucleotide variant	NM_153704.6(TMEM67):c.651+8T>C	Joubert syndrome [RCV003086626]	uncertain significance	8	93765654	93765654	Human	1	name
156180074	CV1924431	single nucleotide variant	NM_153704.6(TMEM67):c.576+2T>C	Joubert syndrome [RCV002625011]	likely pathogenic	8	93765477	93765477	Human	1	name
156055705	CV1935126	single nucleotide variant	NM_153704.6(TMEM67):c.223+1G>C	Joubert syndrome [RCV003775564]\|Joubert syndrome and related disorders [RCV002510414]	likely pathogenic	8	93755138	93755138	Human	1	name
155961335	CV1936546	single nucleotide variant	NM_153704.6(TMEM67):c.978+5A>G	not provided [RCV002512363]	uncertain significance	8	93780987	93780987	Human		name
155967711	CV2059049	single nucleotide variant	NM_153704.6(TMEM67):c.577-8T>C	Joubert syndrome [RCV002776587]	likely benign	8	93765564	93765564	Human	1	name
156214484	CV2085155	single nucleotide variant	NM_153704.6(TMEM67):c.224-9T>G	Joubert syndrome [RCV002893932]	likely benign	8	93755769	93755769	Human	1	name
156376322	CV2124154	deletion	NM_153704.6(TMEM67):c.577-4del	Joubert syndrome [RCV002942746]	likely benign	8	93765568	93765568	Human	1	name
156219496	CV2128162	single nucleotide variant	NM_153704.6(TMEM67):c.406+4A>G	Joubert syndrome [RCV002958084]\|TMEM67-related disorder [RCV004733549]\|not specified [RCV005239557]	uncertain significance	8	93758580	93758580	Human	4	name , alternate_id
155908421	CV2130962	single nucleotide variant	NM_153704.6(TMEM67):c.714+4A>G	Joubert syndrome [RCV002967863]	uncertain significance	8	93772655	93772655	Human	1	name
10448770	CV214277	single nucleotide variant	NM_153704.6(TMEM67):c.978+3A>G	Joubert syndrome 6 [RCV000201705]\|Joubert syndrome [RCV001853241]	pathogenic\|uncertain significance	8	93780985	93780985	Human	2	name
156030508	CV2156379	single nucleotide variant	NM_153704.6(TMEM67):c.869+1G>C	COACH syndrome 1 [RCV005050690]\|Joubert syndrome [RCV003018654]	likely pathogenic	8	93780748	93780748	Human	2	name
156316501	CV2169196	duplication	NM_153704.6(TMEM67):c.224-2dup	Joubert syndrome [RCV003028893]	uncertain significance	8	93755775	93755776	Human	1	name
11552509	CV253203	single nucleotide variant	NM_153704.6(TMEM67):c.869+9A>G	Joubert syndrome 6 [RCV000304460]\|Joubert syndrome [RCV000861716]\|Meckel syndrome, type 3 [RCV000405231]\|Nephronophthisis 11 [RCV000340533]\|not provided [RCV001727664]\|not specified [RCV000254485]	likely benign\|uncertain significance	8	93780756	93780756	Human	4	name
11604991	CV306035	single nucleotide variant	NM_153704.6(TMEM67):c.*1653G>A	Joubert syndrome 6 [RCV000275563]\|Meckel syndrome, type 3 [RCV000369709]\|Nephronophthisis 11 [RCV000315007]	uncertain significance	8	93818105	93818105	Human	3	name
405026180	CV3082308	single nucleotide variant	NM_153704.6(TMEM67):c.506+9T>G	Joubert syndrome [RCV003785758]	likely benign	8	93763950	93763950	Human	1	name
404988279	CV3084001	single nucleotide variant	NM_153704.6(TMEM67):c.407-1G>T	Joubert syndrome [RCV003782193]	likely pathogenic	8	93763841	93763841	Human	1	name
405000291	CV3086001	single nucleotide variant	NM_153704.6(TMEM67):c.507-9A>G	Joubert syndrome [RCV003783372]	likely benign	8	93765397	93765397	Human	1	name
11646138	CV310039	single nucleotide variant	NM_153704.6(TMEM67):c.*1434T>C	Joubert syndrome 6 [RCV000309312]\|Meckel syndrome, type 3 [RCV000363967]\|Nephronophthisis 11 [RCV000269347]	uncertain significance	8	93817886	93817886	Human	3	name
405180629	CV3101757	single nucleotide variant	NM_153704.6(TMEM67):c.870-8G>A	Joubert syndrome [RCV003803970]	likely benign	8	93780866	93780866	Human	1	name
405173312	CV3104749	single nucleotide variant	NM_153704.6(TMEM67):c.715-8T>C	Joubert syndrome [RCV003803247]	likely benign	8	93780585	93780585	Human	1	name
405092333	CV3105225	single nucleotide variant	NM_153704.6(TMEM67):c.652-8G>T	Joubert syndrome [RCV003801108]	likely benign	8	93772581	93772581	Human	1	name
405096218	CV3105698	single nucleotide variant	NM_153704.6(TMEM67):c.224-7T>C	Joubert syndrome [RCV003801415]	likely benign	8	93755771	93755771	Human	1	name
405073223	CV3111548	single nucleotide variant	NM_153704.6(TMEM67):c.223+7C>T	Joubert syndrome [RCV003809888]	likely benign	8	93755144	93755144	Human	1	name
405105129	CV3113167	single nucleotide variant	NM_153704.6(TMEM67):c.506+5G>A	Joubert syndrome [RCV003812458]	uncertain significance	8	93763946	93763946	Human	1	name
405082709	CV3113535	single nucleotide variant	NM_153704.6(TMEM67):c.406+7A>C	Joubert syndrome [RCV003810552]	likely benign	8	93758583	93758583	Human	1	name
408368057	CV3514016	single nucleotide variant	NM_153704.6(TMEM67):c.715-4G>T	TMEM67-related disorder [RCV004733864]	uncertain significance	8	93780589	93780589	Human		name , trait , alternate_id
408368206	CV3516198	single nucleotide variant	NM_153704.6(TMEM67):c.312+4C>T	TMEM67-related disorder [RCV004733933]	uncertain significance	8	93755870	93755870	Human		name , trait , alternate_id
596942013	CV3543934	single nucleotide variant	NM_153704.6(TMEM67):c.652-1G>A	Joubert syndrome and related disorders [RCV004799924]	likely pathogenic	8	93772588	93772588	Human	1	name
597666979	CV3719203	single nucleotide variant	NM_153704.6(TMEM67):c.223+4A>G	COACH syndrome 1 [RCV005043452]	uncertain significance	8	93755141	93755141	Human	1	name
597666988	CV3719204	single nucleotide variant	NM_153704.6(TMEM67):c.312+1G>A	COACH syndrome 1 [RCV005043453]	likely pathogenic	8	93755867	93755867	Human	1	name
597736301	CV3719205	single nucleotide variant	NM_153704.6(TMEM67):c.313-2A>G	COACH syndrome 1 [RCV005051715]	likely pathogenic	8	93758481	93758481	Human	1	name
598122134	CV3884213	single nucleotide variant	NM_153704.6(TMEM67):c.506+6C>A	not specified [RCV005236903]	uncertain significance	8	93763947	93763947	Human		name
598204545	CV3896678	duplication	NM_153704.6(TMEM67):c.224-3dup	Ciliopathy [RCV005356880]	uncertain significance	8	93755751	93755752	Human	1	name
15015383	CV680065	single nucleotide variant	NM_153704.6(TMEM67):c.313-3T>G	Joubert syndrome 6 [RCV000853609]\|not provided [RCV004721651]	likely pathogenic	8	93758480	93758480	Human	1	name
15129011	CV695401	single nucleotide variant	NM_153704.6(TMEM67):c.407-8C>T	not provided [RCV000875578]	likely benign	8	93763834	93763834	Human		name
8617498	CV71410	deletion	NM_153704.6(TMEM67):c.224-2del	COACH syndrome 1 [RCV002496728]\|COACH syndrome 1 [RCV005357429]\|Joubert syndrome [RCV003764723]\|Meckel syndrome, type 3 [RCV000050184]	pathogenic\|likely pathogenic	8	93755776	93755776	Human	3	name
15174775	CV777771	single nucleotide variant	NM_153704.6(TMEM67):c.313-6A>T	not provided [RCV000950419]	likely benign	8	93758477	93758477	Human		name
15174771	CV777785	single nucleotide variant	NM_153704.6(TMEM67):c.313-7A>T	not provided [RCV000950418]	likely benign	8	93758476	93758476	Human		name
28874652	CV900548	single nucleotide variant	NM_153704.6(TMEM67):c.*1099A>G	Joubert syndrome 6 [RCV001165458]\|Meckel syndrome, type 3 [RCV001165459]\|Nephronophthisis 11 [RCV001165457]	uncertain significance	8	93817551	93817551	Human	3	name
28879452	CV900549	single nucleotide variant	NM_153704.6(TMEM67):c.*1424C>A	Joubert syndrome 6 [RCV001167043]\|Meckel syndrome, type 3 [RCV001167042]\|Nephronophthisis 11 [RCV001167044]	uncertain significance	8	93817876	93817876	Human	3	name
28881436	CV903277	single nucleotide variant	NM_153704.5(TMEM67):c.*1676C>T	Joubert syndrome 6 [RCV001167627]\|Meckel syndrome, type 3 [RCV001167628]\|Nephronophthisis 11 [RCV001167626]	uncertain significance	8	93818128	93818128	Human	3	name
8643439	CV102422	single nucleotide variant	NM_153704.6(TMEM67):c.1066-3C>T	COACH syndrome 1 [RCV001838546]\|Joubert syndrome 6 [RCV000364741]\|Joubert syndrome [RCV000860133]\|Meckel syndrome, type 3 [RCV000310098]\|Nephronophthisis 11 [RCV000397297]\|not provided [RCV001682790]\|not specified [RCV000082681]	benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters	8	93782392	93782392	Human	5	name
126751198	CV1028710	single nucleotide variant	NM_153704.6(TMEM67):c.2661+4T>C	Joubert syndrome [RCV001352392]	uncertain significance	8	93809165	93809165	Human	1	name
408368150	CV1055756	single nucleotide variant	NM_153704.6(TMEM67):c.1774-3T>A	TMEM67-related disorder [RCV004733951]	uncertain significance	8	93795898	93795898	Human		name , trait , alternate_id
127328777	CV1139699	single nucleotide variant	NM_153704.6(TMEM67):c.870-17G>C	Joubert syndrome [RCV001486961]	likely benign	8	93780857	93780857	Human	1	name
127309483	CV1139700	single nucleotide variant	NM_153704.6(TMEM67):c.1576-9G>T	Joubert syndrome [RCV001501090]\|TMEM67-related disorder [RCV004733356]	likely benign	8	93793189	93793189	Human	4	name , alternate_id
150340252	CV1168162	single nucleotide variant	NM_153704.6(TMEM67):c.313-96C>G	not provided [RCV001535161]	benign	8	93758387	93758387	Human		name
150480179	CV1221919	single nucleotide variant	NM_153704.6(TMEM67):c.223+73G>A	not provided [RCV001616715]	benign	8	93755210	93755210	Human		name
150544007	CV1310061	single nucleotide variant	NM_153704.6(TMEM67):c.1960+2T>C	not provided [RCV003238065]	pathogenic	8	93797235	93797235	Human		name
150546953	CV1313976	deletion	NM_153704.6(TMEM67):c.1289-2del	not provided [RCV001785069]	pathogenic	8	93786218	93786218	Human		name
8591194	CV131840	single nucleotide variant	NM_153704.6(TMEM67):c.870-29A>G	not provided [RCV001682799]\|not specified [RCV000114251]	benign\|likely benign\|conflicting interpretations of pathogenicity	8	93780845	93780845	Human		name
151354506	CV1329639	single nucleotide variant	NM_153704.6(TMEM67):c.2764+2T>A	not provided [RCV001818003]	likely pathogenic	8	93809889	93809889	Human		name
151784250	CV1377006	single nucleotide variant	NM_153704.6(TMEM67):c.2100+3A>G	COACH syndrome 1 [RCV002506968]\|Joubert syndrome [RCV001889294]	likely pathogenic\|uncertain significance	8	93797473	93797473	Human	2	name
151724192	CV1394437	single nucleotide variant	NM_153704.6(TMEM67):c.1674+1G>A	Joubert syndrome [RCV002047102]	likely pathogenic	8	93793297	93793297	Human	1	name
151714779	CV1401921	single nucleotide variant	NM_153704.6(TMEM67):c.2100+5A>G	Joubert syndrome [RCV002017268]	uncertain significance	8	93797475	93797475	Human	1	name
151717224	CV1424102	single nucleotide variant	NM_153704.6(TMEM67):c.1288+6A>G	Joubert syndrome [RCV002025639]	uncertain significance	8	93785384	93785384	Human	1	name
151720972	CV1426870	single nucleotide variant	NM_153704.6(TMEM67):c.2440-5T>C	Joubert syndrome [RCV002038195]	uncertain significance	8	93808835	93808835	Human	1	name
151724246	CV1486302	single nucleotide variant	NM_153704.6(TMEM67):c.2322+4A>C	Joubert syndrome [RCV002047205]	uncertain significance	8	93803688	93803688	Human	1	name
151821920	CV1498323	single nucleotide variant	NM_153704.6(TMEM67):c.1289-6T>C	Joubert syndrome [RCV001965882]	likely benign\|uncertain significance	8	93786217	93786217	Human	1	name
151818436	CV1500954	single nucleotide variant	NM_153704.6(TMEM67):c.869+17T>A	COACH syndrome 1 [RCV002507666]\|Joubert syndrome [RCV001958334]	likely benign\|uncertain significance	8	93780764	93780764	Human	2	name
151817641	CV1508172	single nucleotide variant	NM_153704.6(TMEM67):c.1575+6T>G	Joubert syndrome [RCV001956671]	uncertain significance	8	93791325	93791325	Human	1	name
152112604	CV1520184	single nucleotide variant	NM_153704.6(TMEM67):c.313-19T>C	Joubert syndrome [RCV002153251]	likely benign	8	93758464	93758464	Human	1	name
152037252	CV1530492	single nucleotide variant	NM_153704.6(TMEM67):c.2439+9A>G	Joubert syndrome [RCV002107199]	likely benign	8	93804887	93804887	Human	1	name
152049771	CV1540378	single nucleotide variant	NM_153704.6(TMEM67):c.652-18G>A	Joubert syndrome [RCV002108804]	likely benign	8	93772571	93772571	Human	1	name
152026274	CV1540745	single nucleotide variant	NM_153704.6(TMEM67):c.1066-7G>A	Joubert syndrome [RCV002104500]	likely benign	8	93782388	93782388	Human	1	name
152158139	CV1541930	single nucleotide variant	NM_153704.6(TMEM67):c.652-13T>C	COACH syndrome 1 [RCV002494200]\|Joubert syndrome [RCV002103269]	likely benign	8	93772576	93772576	Human	2	name
152121254	CV1547542	single nucleotide variant	NM_153704.6(TMEM67):c.506+13A>T	Joubert syndrome [RCV002081582]	likely benign	8	93763954	93763954	Human	1	name
152075847	CV1551289	single nucleotide variant	NM_153704.6(TMEM67):c.651+17T>C	Joubert syndrome [RCV002192396]	likely benign	8	93765663	93765663	Human	1	name
152069024	CV1569867	single nucleotide variant	NM_153704.6(TMEM67):c.651+20T>G	Joubert syndrome [RCV002191530]	likely benign	8	93765666	93765666	Human	1	name
152078682	CV1579731	single nucleotide variant	NM_153704.6(TMEM67):c.979-16C>T	COACH syndrome 1 [RCV002486921]\|Joubert syndrome [RCV002076077]	likely benign	8	93781642	93781642	Human	2	name
152049642	CV1585584	single nucleotide variant	NM_153704.6(TMEM67):c.406+12A>T	COACH syndrome 1 [RCV005042735]\|Joubert syndrome [RCV002145521]	likely benign\|uncertain significance	8	93758588	93758588	Human	2	name
152146658	CV1590570	single nucleotide variant	NM_153704.6(TMEM67):c.869+11T>G	Joubert syndrome [RCV002220154]	likely benign	8	93780758	93780758	Human	1	name
152123358	CV1594283	single nucleotide variant	NM_153704.6(TMEM67):c.651+17T>G	Joubert syndrome [RCV002175874]	likely benign	8	93765663	93765663	Human	1	name
152100634	CV1595777	single nucleotide variant	NM_153704.6(TMEM67):c.978+12T>C	Joubert syndrome [RCV002213956]	likely benign	8	93780994	93780994	Human	1	name
152097672	CV1600000	single nucleotide variant	NM_153704.6(TMEM67):c.312+13T>C	COACH syndrome 1 [RCV002505820]\|Joubert syndrome [RCV002151405]	likely benign	8	93755879	93755879	Human	2	name
152163305	CV1600802	single nucleotide variant	NM_153704.6(TMEM67):c.978+19A>G	Joubert syndrome [RCV002141300]	likely benign	8	93781001	93781001	Human	1	name
152066871	CV1601782	single nucleotide variant	NM_153704.6(TMEM67):c.507-16T>C	Joubert syndrome [RCV002168782]	likely benign	8	93765390	93765390	Human	1	name
152042652	CV1603516	single nucleotide variant	NM_153704.6(TMEM67):c.2765-4A>C	COACH syndrome 1 [RCV002479842]\|Joubert syndrome [RCV002071218]	likely benign	8	93815301	93815301	Human	2	name
152064158	CV1606682	single nucleotide variant	NM_153704.6(TMEM67):c.1576-7T>C	Joubert syndrome [RCV002209083]	likely benign	8	93793191	93793191	Human	1	name
152162157	CV1608768	single nucleotide variant	NM_153704.6(TMEM67):c.2662-4T>C	COACH syndrome 1 [RCV002499968]\|Joubert syndrome [RCV002104002]	likely benign	8	93809781	93809781	Human	2	name
152168628	CV1626284	single nucleotide variant	NM_153704.6(TMEM67):c.312+19A>T	Joubert syndrome [RCV002182511]	likely benign	8	93755885	93755885	Human	1	name
152157414	CV1629873	single nucleotide variant	NM_153704.6(TMEM67):c.1131+9G>A	Joubert syndrome [RCV002202833]	likely benign	8	93782469	93782469	Human	1	name
152132164	CV1631241	single nucleotide variant	NM_153704.6(TMEM67):c.2765-5A>G	Joubert syndrome [RCV002119228]	likely benign	8	93815300	93815300	Human	1	name
8556154	CV16409	single nucleotide variant	NM_153704.6(TMEM67):c.1575+1G>A	Meckel syndrome, type 3 [RCV000001435]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters	8	93791320	93791320	Human	1	name
8556156	CV16411	single nucleotide variant	NM_153704.6(TMEM67):c.2439+5G>C	Joubert syndrome 6 [RCV000001438]\|Joubert syndrome [RCV002512641]	pathogenic	8	93804883	93804883	Human	2	name
8556159	CV16414	single nucleotide variant	NM_153704.6(TMEM67):c.1961-2A>C	COACH syndrome 1 [RCV000001441]\|Joubert syndrome 6 [RCV000201576]	pathogenic	8	93797329	93797329	Human	2	name
8556162	CV16418	single nucleotide variant	NM_153704.6(TMEM67):c.2556+1G>T	COACH syndrome 1 [RCV000001447]\|Joubert syndrome 6 [RCV000201565]	pathogenic	8	93808957	93808957	Human	2	name
152091623	CV1662232	deletion	NM_153704.6(TMEM67):c.313-13del	Joubert syndrome [RCV002132116]	benign	8	93758463	93758463	Human	1	name
10045260	CV189062	single nucleotide variant	NM_153704.6(TMEM67):c.1413-2A>G	COACH syndrome 1 [RCV005042368]\|not provided [RCV000171449]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	8	93787842	93787842	Human	1	name
156359283	CV1891476	single nucleotide variant	NM_153704.6(TMEM67):c.2323-4A>G	Joubert syndrome [RCV003091591]	likely benign	8	93804758	93804758	Human	1	name
156121301	CV1892559	single nucleotide variant	NM_153704.6(TMEM67):c.869+17T>C	Joubert syndrome [RCV003081453]	likely benign	8	93780764	93780764	Human	1	name
156359634	CV1908359	single nucleotide variant	NM_153704.6(TMEM67):c.406+11G>T	Joubert syndrome [RCV002602404]	likely benign	8	93758587	93758587	Human	1	name
156296010	CV1924117	single nucleotide variant	NM_153704.6(TMEM67):c.714+14T>C	Joubert syndrome [RCV002629018]	likely benign	8	93772665	93772665	Human	1	name
156055686	CV1935125	single nucleotide variant	NM_153704.6(TMEM67):c.1132-2A>G	Joubert syndrome [RCV003775563]\|Joubert syndrome and related disorders [RCV002510413]	likely pathogenic	8	93785220	93785220	Human	1	name
156445139	CV1945136	single nucleotide variant	NM_153704.6(TMEM67):c.2101-5T>C	Joubert syndrome [RCV003116076]	likely benign	8	93799613	93799613	Human	1	name
155962620	CV1946654	single nucleotide variant	NM_153704.6(TMEM67):c.224-20T>C	Joubert syndrome [RCV002512435]	likely benign	8	93755758	93755758	Human	1	name
156295596	CV1958732	single nucleotide variant	NM_153704.6(TMEM67):c.1774-7A>T	Joubert syndrome [RCV002577997]	likely benign	8	93795894	93795894	Human	1	name
156184500	CV1964475	single nucleotide variant	NM_153704.6(TMEM67):c.2439+8A>C	Joubert syndrome [RCV002574216]	likely benign	8	93804886	93804886	Human	1	name
156419504	CV1967310	single nucleotide variant	NM_153704.6(TMEM67):c.223+15G>A	Joubert syndrome [RCV002612741]	likely benign	8	93755152	93755152	Human	1	name
156412314	CV1969481	single nucleotide variant	NM_153704.6(TMEM67):c.979-15G>A	Joubert syndrome [RCV002587779]	likely benign	8	93781643	93781643	Human	1	name
156195981	CV1971070	single nucleotide variant	NM_153704.6(TMEM67):c.978+14A>G	Joubert syndrome [RCV002625568]	likely benign	8	93780996	93780996	Human	1	name
155924180	CV1987674	single nucleotide variant	NM_153704.6(TMEM67):c.651+12T>G	Joubert syndrome [RCV002614695]	likely benign	8	93765658	93765658	Human	1	name
156269935	CV2004061	single nucleotide variant	NM_153704.6(TMEM67):c.1674+5A>G	Joubert syndrome [RCV002646497]	uncertain significance	8	93793301	93793301	Human	1	name
156145632	CV2026595	single nucleotide variant	NM_153704.6(TMEM67):c.1289-8A>T	Joubert syndrome [RCV002741055]\|TMEM67-related disorder [RCV004534186]	likely benign	8	93786215	93786215	Human	4	name , alternate_id
156245998	CV2029384	single nucleotide variant	NM_153704.6(TMEM67):c.1131+3A>G	Joubert syndrome [RCV002745828]	uncertain significance	8	93782463	93782463	Human	1	name
156172040	CV2053412	single nucleotide variant	NM_153704.6(TMEM67):c.1961-3C>T	Joubert syndrome [RCV002801980]	uncertain significance	8	93797328	93797328	Human	1	name
155965146	CV2080701	single nucleotide variant	NM_153704.6(TMEM67):c.577-12T>A	Joubert syndrome [RCV002863046]	likely benign\|uncertain significance	8	93765560	93765560	Human	1	name
156251344	CV2082610	single nucleotide variant	NM_153704.6(TMEM67):c.313-12C>G	Joubert syndrome [RCV002876953]	likely benign	8	93758471	93758471	Human	1	name
156099154	CV2087907	single nucleotide variant	NM_153704.6(TMEM67):c.651+18T>C	Joubert syndrome [RCV002848015]	likely benign	8	93765664	93765664	Human	1	name
156059695	CV2090031	single nucleotide variant	NM_153704.6(TMEM67):c.1960+9A>T	Joubert syndrome [RCV002868070]	likely benign	8	93797242	93797242	Human	1	name
156207053	CV2092779	single nucleotide variant	NM_153704.6(TMEM67):c.1065+3A>C	Joubert syndrome [RCV002918010]	uncertain significance	8	93781747	93781747	Human	1	name
156140958	CV2116775	single nucleotide variant	NM_153704.6(TMEM67):c.1065+9G>A	Joubert syndrome [RCV002914905]	likely benign	8	93781753	93781753	Human	1	name
155936973	CV2125775	single nucleotide variant	NM_153704.6(TMEM67):c.2662-6T>A	Joubert syndrome [RCV002971020]	likely benign	8	93809779	93809779	Human	1	name
10408072	CV212654	single nucleotide variant	NM_153704.6(TMEM67):c.1674+5A>T	Joubert syndrome [RCV000196421]	pathogenic\|likely pathogenic\|uncertain significance	8	93793301	93793301	Human	1	name
156102301	CV2132348	single nucleotide variant	NM_153704.6(TMEM67):c.869+20T>C	Joubert syndrome [RCV003002260]	benign	8	93780767	93780767	Human	1	name
10448713	CV214285	single nucleotide variant	NM_153704.6(TMEM67):c.1674+3A>G	Joubert syndrome 6 [RCV000201579]\|Joubert syndrome [RCV002517315]	pathogenic\|uncertain significance	8	93793299	93793299	Human	2	name
10448735	CV214289	deletion	NM_153704.6(TMEM67):c.2322+5del	Joubert syndrome 6 [RCV000201630]\|Joubert syndrome and related disorders [RCV005055723]	likely pathogenic	8	93803689	93803689	Human	2	name
10448690	CV214292	single nucleotide variant	NM_153704.6(TMEM67):c.2661+5G>A	Joubert syndrome 6 [RCV000201535]	pathogenic\|likely pathogenic	8	93809166	93809166	Human	1	name
155990466	CV2151250	single nucleotide variant	NM_153704.6(TMEM67):c.1066-4G>A	Joubert syndrome [RCV003016803]	likely benign	8	93782391	93782391	Human	1	name
156312111	CV2165570	single nucleotide variant	NM_153704.6(TMEM67):c.2242-9A>T	Joubert syndrome [RCV003028643]\|TMEM67-related disorder [RCV004733556]	likely benign	8	93803595	93803595	Human	4	name , alternate_id
156401605	CV2191250	single nucleotide variant	NM_153704.6(TMEM67):c.1675-6T>C	Joubert syndrome [RCV003052363]	uncertain significance	8	93795403	93795403	Human	1	name
243062319	CV2404719	single nucleotide variant	NM_153704.6(TMEM67):c.1576-2A>C	Meckel syndrome, type 3 [RCV003140280]	pathogenic	8	93793196	93793196	Human		name
243054741	CV2408111	single nucleotide variant	NM_153704.6(TMEM67):c.2322+1G>A	not provided [RCV003131741]	likely pathogenic	8	93803685	93803685	Human		name
11548149	CV253197	single nucleotide variant	NM_153704.6(TMEM67):c.312+30C>G	not provided [RCV001574425]\|not specified [RCV000248711]	benign\|likely benign	8	93755896	93755896	Human		name
11550506	CV253198	duplication	NM_153704.6(TMEM67):c.313-13dup	COACH syndrome 1 [RCV002494776]\|not provided [RCV001722364]\|not specified [RCV000251841]	likely benign	8	93758462	93758463	Human	1	name
11544317	CV253199	single nucleotide variant	NM_153704.6(TMEM67):c.506+18G>T	COACH syndrome 1 [RCV002494777]\|Joubert syndrome [RCV001522607]\|not provided [RCV000513995]\|not specified [RCV000243625]	benign\|likely benign	8	93763959	93763959	Human	2	name
11547916	CV253200	single nucleotide variant	NM_153704.6(TMEM67):c.506+48G>A	not provided [RCV000835279]\|not specified [RCV000248388]	benign\|likely benign	8	93763989	93763989	Human		name
11551522	CV253201	single nucleotide variant	NM_153704.6(TMEM67):c.507-19T>C	COACH syndrome 1 [RCV002503951]\|Joubert syndrome [RCV001511602]\|not provided [RCV000514551]\|not specified [RCV000253155]	benign\|likely benign	8	93765387	93765387	Human	2	name
11549922	CV253204	single nucleotide variant	NM_153704.6(TMEM67):c.870-30C>T	not provided [RCV001589292]\|not specified [RCV000251051]	benign\|likely benign	8	93780844	93780844	Human		name
11546083	CV253205	single nucleotide variant	NM_153704.6(TMEM67):c.978+13A>G	Joubert syndrome [RCV002058429]\|not specified [RCV000245999]	likely benign	8	93780995	93780995	Human	1	name
11543549	CV253210	single nucleotide variant	NM_153704.6(TMEM67):c.2661+3A>G	COACH syndrome 1 [RCV005044508]\|Joubert syndrome [RCV002518662]\|Nephronophthisis 11 [RCV005090273]\|not provided [RCV003225056]\|not specified [RCV000242600]	likely benign\|uncertain significance	8	93809164	93809164	Human	3	name
401874986	CV2749804	single nucleotide variant	NM_153704.6(TMEM67):c.2323-2A>G	Joubert syndrome 6 [RCV003332932]	pathogenic	8	93804760	93804760	Human	1	name
405022947	CV3081876	deletion	NM_153704.6(TMEM67):c.1576-2del	Joubert syndrome [RCV003785482]	likely pathogenic	8	93793196	93793196	Human	1	name
405028470	CV3082508	single nucleotide variant	NM_153704.6(TMEM67):c.869+18G>C	Joubert syndrome [RCV003785959]	likely benign	8	93780765	93780765	Human	1	name
405007415	CV3082921	single nucleotide variant	NM_153704.6(TMEM67):c.714+11A>G	Joubert syndrome [RCV003784022]	likely benign	8	93772662	93772662	Human	1	name
404986104	CV3083585	single nucleotide variant	NM_153704.6(TMEM67):c.223+13G>C	Joubert syndrome [RCV003781935]	likely benign	8	93755150	93755150	Human	1	name
404988207	CV3083994	single nucleotide variant	NM_153704.6(TMEM67):c.1066-1G>A	Joubert syndrome [RCV003782186]	likely pathogenic	8	93782394	93782394	Human	1	name
404989358	CV3084081	single nucleotide variant	NM_153704.6(TMEM67):c.2101-8T>C	Joubert syndrome [RCV003782273]	likely benign	8	93799610	93799610	Human	1	name
404990594	CV3084207	single nucleotide variant	NM_153704.6(TMEM67):c.576+16T>C	Joubert syndrome [RCV003782400]	likely benign	8	93765491	93765491	Human	1	name
404998883	CV3085877	single nucleotide variant	NM_153704.6(TMEM67):c.507-14G>T	Joubert syndrome [RCV003783247]	likely benign	8	93765392	93765392	Human	1	name
402520020	CV3086129	single nucleotide variant	NM_153704.6(TMEM67):c.1860+8T>C	Joubert syndrome [RCV003780900]	likely benign	8	93795995	93795995	Human	1	name
402521071	CV3086319	single nucleotide variant	NM_153704.6(TMEM67):c.1413-1G>A	Joubert syndrome [RCV003781092]	pathogenic	8	93787843	93787843	Human	1	name
402521108	CV3086322	single nucleotide variant	NM_153704.6(TMEM67):c.2556+1G>A	Joubert syndrome [RCV003781095]	pathogenic	8	93808957	93808957	Human	1	name
402515817	CV3087674	single nucleotide variant	NM_153704.6(TMEM67):c.223+16G>C	Joubert syndrome [RCV003790025]	likely benign	8	93755153	93755153	Human	1	name
402516919	CV3087761	single nucleotide variant	NM_153704.6(TMEM67):c.407-19T>C	Joubert syndrome [RCV003790114]	likely benign	8	93763823	93763823	Human	1	name
405018798	CV3087836	single nucleotide variant	NM_153704.6(TMEM67):c.507-10T>C	Joubert syndrome [RCV003795396]	likely benign	8	93765396	93765396	Human	1	name
405020063	CV3087977	single nucleotide variant	NM_153704.6(TMEM67):c.1576-7T>G	Joubert syndrome [RCV003795537]	likely benign	8	93793191	93793191	Human	1	name
402516785	CV3089877	single nucleotide variant	NM_153704.6(TMEM67):c.1066-7G>T	Joubert syndrome [RCV003780754]\|TMEM67-related disorder [RCV004733634]	likely benign	8	93782388	93782388	Human	4	name , alternate_id
402505190	CV3090245	single nucleotide variant	NM_153704.6(TMEM67):c.1289-8A>G	Joubert syndrome [RCV003789013]	likely benign	8	93786215	93786215	Human	1	name
402505226	CV3090249	single nucleotide variant	NM_153704.6(TMEM67):c.2764+2T>G	COACH syndrome 1 [RCV005040507]\|Joubert syndrome [RCV003789017]	likely pathogenic	8	93809889	93809889	Human	2	name
402505245	CV3090251	single nucleotide variant	NM_153704.6(TMEM67):c.223+10T>G	Joubert syndrome [RCV003789019]	likely benign	8	93755147	93755147	Human	1	name
404993455	CV3091521	single nucleotide variant	NM_153704.6(TMEM67):c.1413-6A>G	Joubert syndrome [RCV003792996]	likely benign	8	93787838	93787838	Human	1	name
402521342	CV3092006	single nucleotide variant	NM_153704.6(TMEM67):c.715-12G>A	Joubert syndrome [RCV003790452]	likely benign	8	93780581	93780581	Human	1	name
402521872	CV3092049	single nucleotide variant	NM_153704.6(TMEM67):c.979-18C>T	Joubert syndrome [RCV003790495]	likely benign	8	93781640	93781640	Human	1	name
404990915	CV3094711	single nucleotide variant	NM_153704.6(TMEM67):c.576+17T>C	Joubert syndrome [RCV003792725]	likely benign	8	93765492	93765492	Human	1	name
405008593	CV3096277	single nucleotide variant	NM_153704.6(TMEM67):c.1288+9T>C	Joubert syndrome [RCV003794427]	likely benign	8	93785387	93785387	Human	1	name
404983619	CV3096362	single nucleotide variant	NM_153704.6(TMEM67):c.715-13T>C	Joubert syndrome [RCV003791911]	likely benign	8	93780580	93780580	Human	1	name
404984783	CV3096510	single nucleotide variant	NM_153704.6(TMEM67):c.2242-8T>C	Joubert syndrome [RCV003792059]	likely benign	8	93803596	93803596	Human	1	name
405010790	CV3096547	single nucleotide variant	NM_153704.6(TMEM67):c.2440-7T>C	Joubert syndrome [RCV003794536]	likely benign	8	93808833	93808833	Human	1	name
405044328	CV3097177	single nucleotide variant	NM_153704.6(TMEM67):c.406+17T>A	Joubert syndrome [RCV003807757]	likely benign	8	93758593	93758593	Human	1	name
405048774	CV3097505	single nucleotide variant	NM_153704.6(TMEM67):c.1288+9T>A	Joubert syndrome [RCV003808085]	likely benign	8	93785387	93785387	Human	1	name
405028452	CV3098170	single nucleotide variant	NM_153704.6(TMEM67):c.2322+1G>T	Joubert syndrome [RCV003806463]	likely pathogenic	8	93803685	93803685	Human	1	name
405029588	CV3098257	single nucleotide variant	NM_153704.6(TMEM67):c.651+15A>G	Joubert syndrome [RCV003806550]	likely benign	8	93765661	93765661	Human	1	name
405070069	CV3099753	single nucleotide variant	NM_153704.6(TMEM67):c.1065+7A>G	Joubert syndrome [RCV003799467]	likely benign	8	93781751	93781751	Human	1	name
405070345	CV3099794	single nucleotide variant	NM_153704.6(TMEM67):c.1861-1G>A	Joubert syndrome [RCV003799509]	likely pathogenic	8	93797133	93797133	Human	1	name
404981921	CV3100017	single nucleotide variant	NM_153704.6(TMEM67):c.506+10G>A	Joubert syndrome [RCV003791684]	likely benign	8	93763951	93763951	Human	1	name
405077637	CV3100405	single nucleotide variant	NM_153704.6(TMEM67):c.2557-5A>G	Joubert syndrome [RCV003799958]	likely benign	8	93809052	93809052	Human	1	name
405062044	CV3102911	single nucleotide variant	NM_153704.6(TMEM67):c.507-11A>G	Joubert syndrome [RCV003798902]	likely benign	8	93765395	93765395	Human	1	name
405042045	CV3103666	deletion	NM_153704.6(TMEM67):c.651+22del	Joubert syndrome [RCV003797384]	benign	8	93765662	93765662	Human	1	name
405046248	CV3103978	single nucleotide variant	NM_153704.6(TMEM67):c.715-12G>T	Joubert syndrome [RCV003797696]	likely benign	8	93780581	93780581	Human	1	name
405088827	CV3104938	single nucleotide variant	NM_153704.6(TMEM67):c.313-12C>T	Joubert syndrome [RCV003800821]	likely benign	8	93758471	93758471	Human	1	name
405093894	CV3105492	single nucleotide variant	NM_153704.6(TMEM67):c.870-16T>C	Joubert syndrome [RCV003801209]	likely benign	8	93780858	93780858	Human	1	name
405060111	CV3105945	single nucleotide variant	NM_153704.6(TMEM67):c.507-16T>G	Joubert syndrome [RCV003798748]	likely benign	8	93765390	93765390	Human	1	name
405037702	CV3106319	single nucleotide variant	NM_153704.6(TMEM67):c.978+17T>C	Joubert syndrome [RCV003797010]	likely benign	8	93780999	93780999	Human	1	name
405012673	CV3106465	duplication	NM_153704.6(TMEM67):c.2765-6dup	Joubert syndrome [RCV003794802]	benign	8	93815292	93815293	Human	1	name
405167388	CV3107219	single nucleotide variant	NM_153704.6(TMEM67):c.2322+7A>G	Joubert syndrome [RCV003802710]	likely benign	8	93803691	93803691	Human	1	name
405167502	CV3107228	single nucleotide variant	NM_153704.6(TMEM67):c.224-11T>A	Joubert syndrome [RCV003802719]	likely benign	8	93755767	93755767	Human	1	name
405054662	CV3107796	single nucleotide variant	NM_153704.6(TMEM67):c.577-11T>C	Joubert syndrome [RCV003808541]	likely benign	8	93765561	93765561	Human	1	name
405056558	CV3107813	single nucleotide variant	NM_153704.6(TMEM67):c.312+15T>G	Joubert syndrome [RCV003808558]	likely benign	8	93755881	93755881	Human	1	name
405055088	CV3107834	single nucleotide variant	NM_153704.6(TMEM67):c.651+19T>C	Joubert syndrome [RCV003808579]	likely benign	8	93765665	93765665	Human	1	name
405055493	CV3107880	single nucleotide variant	NM_153704.6(TMEM67):c.1575+9A>G	Joubert syndrome [RCV003808626]	likely benign	8	93791328	93791328	Human	1	name
405056194	CV3107930	single nucleotide variant	NM_153704.6(TMEM67):c.869+17T>G	Joubert syndrome [RCV003808676]	likely benign	8	93780764	93780764	Human	1	name
405035017	CV3108558	single nucleotide variant	NM_153704.6(TMEM67):c.1519-1G>A	Joubert syndrome [RCV003807016]	pathogenic	8	93791262	93791262	Human	1	name
405163957	CV3109953	single nucleotide variant	NM_153704.6(TMEM67):c.1132-1G>T	Joubert syndrome [RCV003802312]	likely pathogenic	8	93785221	93785221	Human	1	name
405110468	CV3110626	single nucleotide variant	NM_153704.6(TMEM67):c.576+11C>A	Joubert syndrome [RCV003813529]	likely benign	8	93765486	93765486	Human	1	name
405110526	CV3110636	single nucleotide variant	NM_153704.6(TMEM67):c.1288+1G>A	Joubert syndrome [RCV003813539]	likely pathogenic	8	93785379	93785379	Human	1	name
405153701	CV3111173	single nucleotide variant	NM_153704.6(TMEM67):c.577-20T>C	Joubert syndrome [RCV003801629]	likely benign	8	93765552	93765552	Human	1	name
405155413	CV3111300	single nucleotide variant	NM_153704.6(TMEM67):c.1518+2T>C	Joubert syndrome [RCV003801756]	likely pathogenic	8	93787951	93787951	Human	1	name
405124950	CV3111811	single nucleotide variant	NM_153704.6(TMEM67):c.1774-4A>G	Joubert syndrome [RCV003815284]	likely benign	8	93795897	93795897	Human	1	name
405126080	CV3111907	single nucleotide variant	NM_153704.6(TMEM67):c.506+17G>C	Joubert syndrome [RCV003815380]	likely benign	8	93763958	93763958	Human	1	name
405108463	CV3112318	single nucleotide variant	NM_153704.6(TMEM67):c.406+18T>C	Joubert syndrome [RCV003813161]	likely benign	8	93758594	93758594	Human	1	name
405109804	CV3112569	single nucleotide variant	NM_153704.6(TMEM67):c.224-17T>C	Joubert syndrome [RCV003813412]	likely benign	8	93755761	93755761	Human	1	name
405041660	CV3112890	single nucleotide variant	NM_153704.6(TMEM67):c.1675-1G>T	Joubert syndrome [RCV003807557]	likely pathogenic	8	93795408	93795408	Human	1	name
405104800	CV3113060	single nucleotide variant	NM_153704.6(TMEM67):c.1576-1G>A	Joubert syndrome [RCV003812350]	pathogenic	8	93793197	93793197	Human	1	name
405106839	CV3113679	single nucleotide variant	NM_153704.6(TMEM67):c.1576-9G>C	Joubert syndrome [RCV003812801]	likely benign	8	93793189	93793189	Human	1	name
405078620	CV3114688	single nucleotide variant	NM_153704.6(TMEM67):c.1675-8A>T	Joubert syndrome [RCV003810251]	likely benign	8	93795401	93795401	Human	1	name
11611451	CV315532	single nucleotide variant	NM_153704.6(TMEM67):c.2556+4T>G	COACH syndrome 1 [RCV005044590]\|Joubert syndrome 6 [RCV000369064]\|Joubert syndrome [RCV000690949]\|Meckel syndrome, type 3 [RCV000301453]\|Nephronophthisis 11 [RCV000395278]\|TMEM67-related disorder [RCV004732860]\|not provided [RCV002223205]\|not specified [RCV00470 ... (more) 1451]	uncertain significance	8	93808960	93808960	Human	10	name , alternate_id
11644647	CV315535	single nucleotide variant	NM_153704.6(TMEM67):c.2556+5G>C	Joubert syndrome 6 [RCV000261278]\|Meckel syndrome, type 3 [RCV000316551]\|Nephronophthisis 11 [RCV000356120]	uncertain significance	8	93808961	93808961	Human	3	name
408368144	CV3516641	single nucleotide variant	NM_153704.6(TMEM67):c.1774-6T>A	TMEM67-related disorder [RCV004733945]	likely benign	8	93795895	93795895	Human		name , trait , alternate_id
408383767	CV3525830	single nucleotide variant	NM_153704.6(TMEM67):c.2100+6A>G	not specified [RCV004766740]	uncertain significance	8	93797476	93797476	Human		name
596932385	CV3539005	single nucleotide variant	NM_153704.6(TMEM67):c.2908-2A>G	not provided [RCV004793131]	uncertain significance	8	93816370	93816370	Human		name
12840524	CV369615	single nucleotide variant	NM_153704.6(TMEM67):c.652-16A>G	Joubert syndrome [RCV002521714]\|not specified [RCV000430880]	likely benign	8	93772573	93772573	Human	1	name
597736548	CV3719214	deletion	NM_153704.6(TMEM67):c.870-11del	COACH syndrome 1 [RCV005051718]	uncertain significance	8	93780862	93780862	Human	1	name
597667088	CV3719221	single nucleotide variant	NM_153704.6(TMEM67):c.1289-7A>G	COACH syndrome 1 [RCV005043466]	uncertain significance	8	93786216	93786216	Human	1	name
597667102	CV3719224	single nucleotide variant	NM_153704.6(TMEM67):c.1412+1G>T	COACH syndrome 1 [RCV005043468]	likely pathogenic	8	93786347	93786347	Human	1	name
597667137	CV3719229	single nucleotide variant	NM_153704.6(TMEM67):c.1675-1G>A	COACH syndrome 1 [RCV005043472]	likely pathogenic	8	93795408	93795408	Human	1	name
597667175	CV3719234	single nucleotide variant	NM_153704.6(TMEM67):c.1860+1G>A	COACH syndrome 1 [RCV005043477]	likely pathogenic	8	93795988	93795988	Human	1	name
597736357	CV3719252	single nucleotide variant	NM_153704.6(TMEM67):c.2556+5G>T	COACH syndrome 1 [RCV005051724]	uncertain significance	8	93808961	93808961	Human	1	name
597858712	CV3864829	single nucleotide variant	NM_153704.6(TMEM67):c.2101-4C>T	Joubert syndrome [RCV005213886]	likely benign	8	93799614	93799614	Human	1	name
597882367	CV3865859	single nucleotide variant	NM_153704.6(TMEM67):c.1066-1G>T	Joubert syndrome [RCV005217524]	likely pathogenic	8	93782394	93782394	Human	1	name
597883991	CV3866082	single nucleotide variant	NM_153704.6(TMEM67):c.652-14C>A	Joubert syndrome [RCV005217747]	likely benign	8	93772575	93772575	Human	1	name
597880483	CV3868369	single nucleotide variant	NM_153704.6(TMEM67):c.870-18A>T	Joubert syndrome [RCV005217269]	likely benign	8	93780856	93780856	Human	1	name
597865753	CV3868835	single nucleotide variant	NM_153704.6(TMEM67):c.576+14A>G	Joubert syndrome [RCV005214955]	likely benign	8	93765489	93765489	Human	1	name
597866206	CV3868883	single nucleotide variant	NM_153704.6(TMEM67):c.2764+7T>C	Joubert syndrome [RCV005215003]	likely benign	8	93809894	93809894	Human	1	name
597866618	CV3868949	single nucleotide variant	NM_153704.6(TMEM67):c.406+19A>G	Joubert syndrome [RCV005215070]	likely benign	8	93758595	93758595	Human	1	name
597836981	CV3874525	single nucleotide variant	NM_153704.6(TMEM67):c.576+19A>C	Joubert syndrome [RCV005210446]	likely benign	8	93765494	93765494	Human	1	name
597898751	CV3876110	single nucleotide variant	NM_153704.6(TMEM67):c.1674+8C>A	Joubert syndrome [RCV005220000]	likely benign	8	93793304	93793304	Human	1	name
597858780	CV3877807	single nucleotide variant	NM_153704.6(TMEM67):c.1773+1G>T	Joubert syndrome [RCV005229116]	likely pathogenic	8	93795508	93795508	Human	1	name
597912099	CV3879632	duplication	NM_153704.6(TMEM67):c.651+22dup	Joubert syndrome [RCV005222033]	benign	8	93765661	93765662	Human	1	name
598158413	CV3896679	single nucleotide variant	NM_153704.6(TMEM67):c.2242-2A>T	COACH syndrome 1 [RCV005367852]	likely pathogenic	8	93803602	93803602	Human	1	name
13518148	CV486823	single nucleotide variant	NM_153704.6(TMEM67):c.1575+5G>A	Joubert syndrome 6 [RCV000590124]\|not specified [RCV002282247]	likely pathogenic\|uncertain significance	8	93791324	93791324	Human	1	name
13535765	CV502804	single nucleotide variant	NM_153704.6(TMEM67):c.506+18G>A	not specified [RCV000608011]	likely benign	8	93763959	93763959	Human		name
13817436	CV568259	single nucleotide variant	NM_153704.6(TMEM67):c.1961-7T>A	Joubert syndrome [RCV000707019]	uncertain significance	8	93797324	93797324	Human	1	name
14739784	CV663413	single nucleotide variant	NM_153704.6(TMEM67):c.312+14A>G	COACH syndrome 1 [RCV002501170]\|Joubert syndrome [RCV002067515]\|not provided [RCV000840039]	benign\|likely benign	8	93755880	93755880	Human	2	name
14744232	CV663435	single nucleotide variant	NM_153704.6(TMEM67):c.714+18A>T	Joubert syndrome [RCV002064407]\|not provided [RCV000842613]	benign\|likely benign	8	93772669	93772669	Human	1	name
15129876	CV685245	single nucleotide variant	NM_153704.6(TMEM67):c.2440-6T>C	COACH syndrome 1 [RCV002487895]\|Joubert syndrome [RCV000863325]\|TMEM67-related disorder [RCV004538202]	benign\|likely benign	8	93808834	93808834	Human	10	name , alternate_id
8617490	CV71402	deletion	NM_153704.6(TMEM67):c.1065+1del	Meckel syndrome, type 3 [RCV000050176]	likely pathogenic	8	93781744	93781744	Human	1	name
8617494	CV71406	single nucleotide variant	NM_153704.6(TMEM67):c.1413-1G>C	Joubert syndrome [RCV000694518]\|Meckel syndrome, type 3 [RCV000050180]	pathogenic\|likely pathogenic	8	93787843	93787843	Human	2	name
8617500	CV71412	duplication	NM_153704.6(TMEM67):c.2322+2dup	COACH syndrome 1 [RCV004783736]\|COACH syndrome 1 [RCV005042163]\|Joubert syndrome 6 [RCV000201707]\|Joubert syndrome [RCV001853070]\|Meckel syndrome, type 3 [RCV000050186]\|not provided [RCV000176336]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|no classifications from unflagged records	8	93803685	93803686	Human	4	name
15183995	CV744325	single nucleotide variant	NM_153704.6(TMEM67):c.2557-9T>C	not provided [RCV000908179]	likely benign	8	93809048	93809048	Human		name
28874397	CV900518	single nucleotide variant	NM_153704.6(TMEM67):c.2242-7G>A	Joubert syndrome 6 [RCV001165343]\|Meckel syndrome, type 3 [RCV001165344]\|Nephronophthisis 11 [RCV001165345]	uncertain significance	8	93803597	93803597	Human	3	name
28879036	CV903276	single nucleotide variant	NM_153704.6(TMEM67):c.2907+9T>C	Joubert syndrome 6 [RCV001166922]\|Joubert syndrome [RCV001404061]\|Meckel syndrome, type 3 [RCV001166923]\|Nephronophthisis 11 [RCV001166921]	likely benign\|uncertain significance	8	93815456	93815456	Human	4	name
38462091	CV920257	single nucleotide variant	NM_153704.6(TMEM67):c.2908-1G>T	RHYNS syndrome [RCV001198160]	pathogenic	8	93816371	93816371	Human	1	name
40815380	CV970888	single nucleotide variant	NM_153704.6(TMEM67):c.2557-3T>G	Joubert syndrome 6 [RCV001706725]\|Meckel syndrome, type 3 [RCV001262720]\|not provided [RCV002508797]	likely pathogenic\|uncertain significance	8	93809054	93809054	Human	2	name
127281232	CV1075604	single nucleotide variant	NM_153704.6(TMEM67):c.1860+19G>T	Joubert syndrome [RCV001410295]	likely benign	8	93796006	93796006	Human	1	name
127290875	CV1118841	single nucleotide variant	NM_153704.6(TMEM67):c.1961-19A>G	Joubert syndrome [RCV001475889]	likely benign	8	93797312	93797312	Human	1	name
127295990	CV1156009	single nucleotide variant	NM_153704.6(TMEM67):c.2241+15A>G	Joubert syndrome [RCV001512392]	benign	8	93799773	93799773	Human	1	name
150339700	CV1167449	single nucleotide variant	NM_153704.6(TMEM67):c.407-206T>C	not provided [RCV001534482]	likely benign	8	93763636	93763636	Human		name
150407601	CV1177067	deletion	NM_153704.6(TMEM67):c.1774-81del	not provided [RCV001545636]	likely benign	8	93795812	93795812	Human		name
150422528	CV1180465	single nucleotide variant	NM_153704.6(TMEM67):c.312+154C>G	not provided [RCV001552765]	likely benign	8	93756020	93756020	Human		name
150421862	CV1180467	single nucleotide variant	NM_153704.6(TMEM67):c.2242-31T>C	not provided [RCV001552209]	likely benign	8	93803573	93803573	Human		name
150420822	CV1180468	single nucleotide variant	NM_153704.6(TMEM67):c.2242-28T>C	not provided [RCV001551729]	likely benign	8	93803576	93803576	Human		name
150424127	CV1184134	single nucleotide variant	NM_153704.6(TMEM67):c.1774-73G>A	not provided [RCV001556256]	likely benign	8	93795828	93795828	Human		name
150411449	CV1190814	single nucleotide variant	NM_153704.6(TMEM67):c.1674+94G>A	not provided [RCV001566581]	likely benign	8	93793390	93793390	Human		name
150463874	CV1206794	single nucleotide variant	NM_153704.6(TMEM67):c.312+259G>A	not provided [RCV001587195]	likely benign	8	93756125	93756125	Human		name
150467923	CV1207175	duplication	NM_153704.6(TMEM67):c.1774-81dup	not provided [RCV001587967]	likely benign	8	93795811	93795812	Human		name
150485224	CV1250184	single nucleotide variant	NM_153704.6(TMEM67):c.979-280T>C	not provided [RCV001673797]	benign	8	93781378	93781378	Human		name
150479478	CV1282291	single nucleotide variant	NM_153704.6(TMEM67):c.979-107A>G	not provided [RCV001714473]	benign	8	93781551	93781551	Human		name
150444022	CV1287960	deletion	NM_153704.6(TMEM67):c.979-159del	not provided [RCV001725682]	benign	8	93781499	93781499	Human		name
8591184	CV131830	single nucleotide variant	NM_153704.6(TMEM67):c.1288+46C>T	not provided [RCV000834508]\|not specified [RCV000114241]	benign\|likely benign\|conflicting interpretations of pathogenicity	8	93785424	93785424	Human		name
8591186	CV131832	single nucleotide variant	NM_153704.6(TMEM67):c.1774-45A>C	not provided [RCV001574408]\|not specified [RCV000114243]	benign\|likely benign	8	93795856	93795856	Human		name
151776873	CV1352418	single nucleotide variant	NM_153704.6(TMEM67):c.1576-20A>G	Joubert syndrome [RCV001876969]	likely benign\|uncertain significance	8	93793178	93793178	Human	1	name
151810098	CV1374009	single nucleotide variant	NM_153704.6(TMEM67):c.1674+14A>T	COACH syndrome 1 [RCV002491895]\|Joubert syndrome [RCV001940249]	likely benign\|uncertain significance	8	93793310	93793310	Human	2	name
151721907	CV1378581	single nucleotide variant	NM_153704.6(TMEM67):c.1065+17T>G	Joubert syndrome [RCV002041384]	likely benign\|uncertain significance	8	93781761	93781761	Human	1	name
151795709	CV1402822	single nucleotide variant	NM_153704.6(TMEM67):c.1412+19A>G	Joubert syndrome [RCV001912485]	likely benign\|uncertain significance	8	93786365	93786365	Human	1	name
152160123	CV1522788	single nucleotide variant	NM_153704.6(TMEM67):c.1412+18G>T	Joubert syndrome [RCV002140775]	likely benign	8	93786364	93786364	Human	1	name
152168397	CV1525073	single nucleotide variant	NM_153704.6(TMEM67):c.1773+14T>A	Joubert syndrome [RCV002182431]	likely benign	8	93795521	93795521	Human	1	name
152082911	CV1526270	duplication	NM_153704.6(TMEM67):c.1960+17dup	Joubert syndrome [RCV002170777]	benign	8	93797244	93797245	Human	1	name
152044879	CV1539401	single nucleotide variant	NM_153704.6(TMEM67):c.1860+19G>A	Joubert syndrome [RCV002144973]	likely benign	8	93796006	93796006	Human	1	name
152118100	CV1540299	single nucleotide variant	NM_153704.6(TMEM67):c.1961-20C>A	Joubert syndrome [RCV002097774]	likely benign	8	93797311	93797311	Human	1	name
152060985	CV1540712	single nucleotide variant	NM_153704.6(TMEM67):c.2907+15T>C	Joubert syndrome [RCV002110110]	likely benign	8	93815462	93815462	Human	1	name
152033321	CV1542655	single nucleotide variant	NM_153704.6(TMEM67):c.1288+14A>G	Joubert syndrome [RCV002106545]	likely benign	8	93785392	93785392	Human	1	name
152133721	CV1545092	single nucleotide variant	NM_153704.6(TMEM67):c.1413-12T>G	Joubert syndrome [RCV002177145]	likely benign	8	93787832	93787832	Human	1	name
152120297	CV1547365	single nucleotide variant	NM_153704.6(TMEM67):c.1773+10T>C	Joubert syndrome [RCV002081459]	likely benign	8	93795517	93795517	Human	1	name
152167670	CV1547753	single nucleotide variant	NM_153704.6(TMEM67):c.2439+17C>T	COACH syndrome 1 [RCV002486974]\|Joubert syndrome [RCV002160924]	likely benign	8	93804895	93804895	Human	2	name
152168117	CV1547884	single nucleotide variant	NM_153704.6(TMEM67):c.2557-16C>G	Joubert syndrome [RCV002161031]	likely benign	8	93809041	93809041	Human	1	name
152138885	CV1572349	single nucleotide variant	NM_153704.6(TMEM67):c.2323-12C>A	Joubert syndrome [RCV002219106]	likely benign	8	93804750	93804750	Human	1	name
152154541	CV1593048	single nucleotide variant	NM_153704.6(TMEM67):c.2557-11T>C	Joubert syndrome [RCV002202481]	likely benign	8	93809046	93809046	Human	1	name
152095842	CV1597398	duplication	NM_153704.6(TMEM67):c.2322+11dup	Joubert syndrome [RCV002114686]	likely benign	8	93803692	93803693	Human	1	name
152086259	CV1608332	duplication	NM_153704.6(TMEM67):c.1675-10dup	COACH syndrome 1 [RCV002507906]\|Joubert syndrome [RCV002212081]\|TMEM67-related disorder [RCV004733469]	likely benign	8	93795391	93795392	Human	10	name , alternate_id
152140149	CV1624138	single nucleotide variant	NM_153704.6(TMEM67):c.2101-20A>C	Joubert syndrome [RCV002138073]	likely benign	8	93799598	93799598	Human	1	name
152140872	CV1625208	single nucleotide variant	NM_153704.6(TMEM67):c.2440-11T>C	COACH syndrome 1 [RCV002486844]\|Joubert syndrome [RCV002219354]	likely benign	8	93808829	93808829	Human	2	name
152129292	CV1637442	single nucleotide variant	NM_153704.6(TMEM67):c.2908-20G>T	Joubert syndrome [RCV002217841]	likely benign	8	93816352	93816352	Human	1	name
152101630	CV1645862	single nucleotide variant	NM_153704.6(TMEM67):c.1675-13T>A	COACH syndrome 1 [RCV002486813]\|Joubert syndrome [RCV002173182]	likely benign	8	93795396	93795396	Human	2	name
152065619	CV1652623	single nucleotide variant	NM_153704.6(TMEM67):c.2661+17T>A	Joubert syndrome [RCV002090870]	likely benign	8	93809178	93809178	Human	1	name
152174009	CV1660197	single nucleotide variant	NM_153704.6(TMEM67):c.2765-12T>A	Joubert syndrome [RCV002163003]	likely benign	8	93815293	93815293	Human	1	name
152123719	CV1665586	single nucleotide variant	NM_153704.6(TMEM67):c.1575+16C>T	Joubert syndrome [RCV002198399]	likely benign	8	93791335	93791335	Human	1	name
156393357	CV1876123	single nucleotide variant	NM_153704.6(TMEM67):c.1066-16T>C	Joubert syndrome [RCV003068282]	likely benign	8	93782379	93782379	Human	1	name
156049572	CV1884319	single nucleotide variant	NM_153704.6(TMEM67):c.1861-18A>G	Joubert syndrome [RCV003078821]	likely benign	8	93797116	93797116	Human	1	name
156051870	CV1931951	single nucleotide variant	NM_153704.6(TMEM67):c.1519-14G>C	Joubert syndrome [RCV002620637]	likely benign	8	93791249	93791249	Human	1	name
156444177	CV1937703	single nucleotide variant	NM_153704.6(TMEM67):c.1131+13G>A	Joubert syndrome [RCV003115098]	likely benign	8	93782473	93782473	Human	1	name
156274162	CV1957324	single nucleotide variant	NM_153704.6(TMEM67):c.1860+10A>G	Joubert syndrome [RCV002577265]	likely benign	8	93795997	93795997	Human	1	name
156228492	CV1959004	single nucleotide variant	NM_153704.6(TMEM67):c.1774-19C>G	Joubert syndrome [RCV002596716]	likely benign	8	93795882	93795882	Human	1	name
156313545	CV1966526	single nucleotide variant	NM_153704.6(TMEM67):c.2440-13T>C	Joubert syndrome [RCV002578825]	likely benign	8	93808827	93808827	Human	1	name
156412939	CV1968879	single nucleotide variant	NM_153704.6(TMEM67):c.1861-13A>G	Joubert syndrome [RCV002608688]	likely benign	8	93797121	93797121	Human	1	name
155919292	CV1981167	single nucleotide variant	NM_153704.6(TMEM67):c.2241+12T>C	Joubert syndrome [RCV002614472]	likely benign	8	93799770	93799770	Human	1	name
156246193	CV1991900	single nucleotide variant	NM_153704.6(TMEM67):c.1576-19T>C	Joubert syndrome [RCV002645745]	likely benign	8	93793179	93793179	Human	1	name
156349295	CV2008515	single nucleotide variant	NM_153704.6(TMEM67):c.2101-13C>G	Joubert syndrome [RCV002720066]	likely benign	8	93799605	93799605	Human	1	name
156363241	CV2016846	single nucleotide variant	NM_153704.6(TMEM67):c.1773+17A>G	Joubert syndrome [RCV002721010]	likely benign	8	93795524	93795524	Human	1	name
156232502	CV2024538	single nucleotide variant	NM_153704.6(TMEM67):c.2101-20A>G	Joubert syndrome [RCV002745360]	likely benign	8	93799598	93799598	Human	1	name
156043639	CV2071777	single nucleotide variant	NM_153704.6(TMEM67):c.2322+20A>G	Joubert syndrome [RCV002846195]	likely benign	8	93803704	93803704	Human	1	name
156145054	CV2122722	deletion	NM_153704.6(TMEM67):c.1518+15del	Joubert syndrome [RCV002954367]	likely benign	8	93787963	93787963	Human	1	name
156024014	CV2128779	single nucleotide variant	NM_153704.6(TMEM67):c.1131+12C>T	Joubert syndrome [RCV002948912]	likely benign	8	93782472	93782472	Human	1	name
156162424	CV2135487	single nucleotide variant	NM_153704.6(TMEM67):c.1860+17A>G	Joubert syndrome [RCV002983055]	likely benign	8	93796004	93796004	Human	1	name
11548550	CV253194	single nucleotide variant	NM_001142301.1(TMEM67):c.-200G>C	Joubert syndrome 6 [RCV001165003]\|Meckel syndrome, type 3 [RCV001165005]\|Nephronophthisis 11 [RCV001165004]\|TMEM67-related disorder [RCV004529451]\|not provided [RCV001689942]	benign\|likely benign	8	93754889	93754889	Human	3	name , alternate_id
11545705	CV253206	single nucleotide variant	NM_153704.6(TMEM67):c.1518+18T>C	Joubert syndrome [RCV001515049]\|not provided [RCV001597028]\|not specified [RCV000245498]	benign	8	93787967	93787967	Human	1	name
11550735	CV253211	single nucleotide variant	NM_153704.6(TMEM67):c.2908-43C>T	not provided [RCV000835282]\|not specified [RCV000252141]	benign\|likely benign	8	93816329	93816329	Human		name
405024165	CV3082007	single nucleotide variant	NM_153704.6(TMEM67):c.1860+16C>G	Joubert syndrome [RCV003785613]	likely benign	8	93796003	93796003	Human	1	name
405014546	CV3083843	single nucleotide variant	NM_153704.6(TMEM67):c.2764+19T>C	Joubert syndrome [RCV003784636]	likely benign	8	93809906	93809906	Human	1	name
404992752	CV3084341	single nucleotide variant	NM_153704.6(TMEM67):c.2908-10A>C	Joubert syndrome [RCV003782534]	likely benign	8	93816362	93816362	Human	1	name
405026267	CV3085204	single nucleotide variant	NM_153704.6(TMEM67):c.1518+20G>T	Joubert syndrome [RCV003796070]	likely benign	8	93787969	93787969	Human	1	name
402519338	CV3086202	deletion	NM_153704.6(TMEM67):c.2661+14del	Joubert syndrome [RCV003780975]	likely benign	8	93809175	93809175	Human	1	name
402524045	CV3086705	single nucleotide variant	NM_153704.6(TMEM67):c.1065+12T>A	Joubert syndrome [RCV003781322]	likely benign	8	93781756	93781756	Human	1	name
402501656	CV3089756	single nucleotide variant	NM_153704.6(TMEM67):c.2908-12T>C	Joubert syndrome [RCV003788679]	likely benign	8	93816360	93816360	Human	1	name
402517611	CV3089943	single nucleotide variant	NM_153704.6(TMEM67):c.1289-19T>C	Joubert syndrome [RCV003780821]	likely benign	8	93786204	93786204	Human	1	name
402506169	CV3090366	single nucleotide variant	NM_153704.6(TMEM67):c.2101-10T>G	Joubert syndrome [RCV003789135]	likely benign	8	93799608	93799608	Human	1	name
404991162	CV3091276	single nucleotide variant	NM_153704.6(TMEM67):c.1576-10T>C	Joubert syndrome [RCV003792749]	likely benign	8	93793188	93793188	Human	1	name
405030862	CV3092615	single nucleotide variant	NM_153704.6(TMEM67):c.1412+10T>C	Joubert syndrome [RCV003786126]\|TMEM67-related disorder [RCV004733633]	likely benign	8	93786356	93786356	Human	4	name , alternate_id
405018634	CV3094408	single nucleotide variant	NM_153704.6(TMEM67):c.1412+16A>G	Joubert syndrome [RCV003785098]	likely benign	8	93786362	93786362	Human	1	name
405026756	CV3094746	single nucleotide variant	NM_153704.6(TMEM67):c.2661+18T>G	Joubert syndrome [RCV003796108]	likely benign	8	93809179	93809179	Human	1	name
405054304	CV3094940	single nucleotide variant	NM_153704.6(TMEM67):c.1132-19T>G	Joubert syndrome [RCV003798254]	likely benign	8	93785203	93785203	Human	1	name
405032493	CV3095381	single nucleotide variant	NM_153704.6(TMEM67):c.2101-13C>A	Joubert syndrome [RCV003796587]	likely benign	8	93799605	93799605	Human	1	name
405001618	CV3095510	single nucleotide variant	NM_153704.6(TMEM67):c.1131+16A>G	Joubert syndrome [RCV003793813]	likely benign	8	93782476	93782476	Human	1	name
405010968	CV3096622	single nucleotide variant	NM_153704.6(TMEM67):c.2322+17T>C	Joubert syndrome [RCV003794611]	likely benign	8	93803701	93803701	Human	1	name
405045279	CV3097220	single nucleotide variant	NM_153704.6(TMEM67):c.2242-14A>G	Joubert syndrome [RCV003807800]	likely benign	8	93803590	93803590	Human	1	name
405024491	CV3097686	single nucleotide variant	NM_153704.6(TMEM67):c.1860+14G>A	Joubert syndrome [RCV003806147]	likely benign	8	93796001	93796001	Human	1	name
405025294	CV3097754	single nucleotide variant	NM_153704.6(TMEM67):c.1132-16T>C	Joubert syndrome [RCV003806215]	likely benign	8	93785206	93785206	Human	1	name
404979635	CV3099453	single nucleotide variant	NM_153704.6(TMEM67):c.1289-20T>C	Joubert syndrome [RCV003791281]	likely benign	8	93786203	93786203	Human	1	name
404980988	CV3099684	single nucleotide variant	NM_153704.6(TMEM67):c.2101-14C>T	Joubert syndrome [RCV003791513]	likely benign	8	93799604	93799604	Human	1	name
405076384	CV3100315	single nucleotide variant	NM_153704.6(TMEM67):c.2557-20A>G	Joubert syndrome [RCV003799868]	likely benign	8	93809037	93809037	Human	1	name
405019033	CV3100918	single nucleotide variant	NM_153704.6(TMEM67):c.2322+18T>G	Joubert syndrome [RCV003805666]	likely benign	8	93803702	93803702	Human	1	name
405180611	CV3101755	single nucleotide variant	NM_153704.6(TMEM67):c.1575+15A>G	Joubert syndrome [RCV003803968]	likely benign	8	93791334	93791334	Human	1	name
405063899	CV3103083	deletion	NM_153704.6(TMEM67):c.2439+19del	Joubert syndrome [RCV003799074]	likely benign	8	93804897	93804897	Human	1	name
405174802	CV3104771	single nucleotide variant	NM_153704.6(TMEM67):c.2322+11T>C	Joubert syndrome [RCV003803269]	likely benign	8	93803695	93803695	Human	1	name
405090311	CV3105073	single nucleotide variant	NM_153704.6(TMEM67):c.1288+10C>G	Joubert syndrome [RCV003800956]	likely benign	8	93785388	93785388	Human	1	name
405092873	CV3105220	single nucleotide variant	NM_153704.6(TMEM67):c.2908-15G>T	Joubert syndrome [RCV003801103]	likely benign	8	93816357	93816357	Human	1	name
405092322	CV3105224	single nucleotide variant	NM_153704.6(TMEM67):c.1065+12T>G	Joubert syndrome [RCV003801107]	likely benign	8	93781756	93781756	Human	1	name
405060156	CV3105949	single nucleotide variant	NM_153704.6(TMEM67):c.2323-10C>G	Joubert syndrome [RCV003798752]	likely benign	8	93804752	93804752	Human	1	name
405013303	CV3106524	deletion	NM_153704.6(TMEM67):c.1288+15del	Joubert syndrome [RCV003794861]	likely benign	8	93785393	93785393	Human	1	name
405064255	CV3108862	single nucleotide variant	NM_153704.6(TMEM67):c.1674+17T>G	Joubert syndrome [RCV003809272]	likely benign	8	93793313	93793313	Human	1	name
405008649	CV3108996	single nucleotide variant	NM_153704.6(TMEM67):c.1861-16T>C	Joubert syndrome [RCV003804663]	likely benign	8	93797118	93797118	Human	1	name
405161882	CV3109902	single nucleotide variant	NM_153704.6(TMEM67):c.1674+12G>A	Joubert syndrome [RCV003802261]	likely benign	8	93793308	93793308	Human	1	name
405110243	CV3110587	single nucleotide variant	NM_153704.6(TMEM67):c.1675-18C>T	Joubert syndrome [RCV003813490]	likely benign	8	93795391	93795391	Human	1	name
405128835	CV3110833	single nucleotide variant	NM_153704.6(TMEM67):c.2323-10C>T	Joubert syndrome [RCV003815712]	likely benign	8	93804752	93804752	Human	1	name
405069354	CV3111113	single nucleotide variant	NM_153704.6(TMEM67):c.2907+14A>T	Joubert syndrome [RCV003809617]	likely benign	8	93815461	93815461	Human	1	name
405076622	CV3111737	single nucleotide variant	NM_153704.6(TMEM67):c.2100+13T>C	Joubert syndrome [RCV003810077]	likely benign	8	93797483	93797483	Human	1	name
405108458	CV3112317	single nucleotide variant	NM_153704.6(TMEM67):c.2662-16T>C	Joubert syndrome [RCV003813160]	likely benign	8	93809769	93809769	Human	1	name
405104856	CV3113086	single nucleotide variant	NM_153704.6(TMEM67):c.1412+13C>T	Joubert syndrome [RCV003812377]	likely benign	8	93786359	93786359	Human	1	name
405105408	CV3113224	single nucleotide variant	NM_153704.6(TMEM67):c.2241+19A>G	Joubert syndrome [RCV003812515]	likely benign	8	93799777	93799777	Human	1	name
405107163	CV3113768	single nucleotide variant	NM_153704.6(TMEM67):c.1412+12T>C	Joubert syndrome [RCV003812891]	likely benign	8	93786358	93786358	Human	1	name
405012255	CV3113973	single nucleotide variant	NM_153704.6(TMEM67):c.1773+13C>T	Joubert syndrome [RCV003804995]	likely benign	8	93795520	93795520	Human	1	name
11607713	CV315372	deletion	NM_001142301.1(TMEM67):c.-207del	Joubert syndrome [RCV000289622]\|Meckel-Gruber syndrome [RCV000381796]\|Nephronophthisis [RCV000346977]\|TMEM67-related disorder [RCV004544704]\|not specified [RCV000601083]	likely benign\|uncertain significance	8	93754877	93754877	Human	7	name , alternate_id
12842860	CV369619	single nucleotide variant	NM_153704.6(TMEM67):c.1288+15C>T	COACH syndrome 1 [RCV002481323]\|Joubert syndrome [RCV002063400]\|not specified [RCV000435169]	likely benign	8	93785393	93785393	Human	2	name
597835205	CV3864432	single nucleotide variant	NM_153704.6(TMEM67):c.2242-18C>T	Joubert syndrome [RCV005210068]	likely benign	8	93803586	93803586	Human	1	name
597847770	CV3872741	single nucleotide variant	NM_153704.6(TMEM67):c.1289-10A>G	Joubert syndrome [RCV005212377]	likely benign	8	93786213	93786213	Human	1	name
13526179	CV502385	single nucleotide variant	NM_153704.6(TMEM67):c.1131+19A>C	Joubert syndrome [RCV002063896]\|not provided [RCV001697500]	likely benign	8	93782479	93782479	Human	1	name
13540536	CV502537	single nucleotide variant	NM_001142301.1(TMEM67):c.-207G>A	not specified [RCV000614833]	likely benign	8	93754882	93754882	Human		name
14736672	CV662917	single nucleotide variant	NM_153704.6(TMEM67):c.979-164T>C	not provided [RCV000838581]	benign	8	93781494	93781494	Human		name
14729581	CV662920	single nucleotide variant	NM_153704.6(TMEM67):c.1131+79A>G	not provided [RCV000835286]	likely benign	8	93782539	93782539	Human		name
14729570	CV662922	single nucleotide variant	NM_153704.6(TMEM67):c.2661+42A>G	not provided [RCV000835280]	likely benign	8	93809203	93809203	Human		name
14724826	CV663416	single nucleotide variant	NM_153704.6(TMEM67):c.407-272C>T	not provided [RCV000833158]	benign	8	93763570	93763570	Human		name
14736669	CV663420	single nucleotide variant	NM_153704.6(TMEM67):c.312+194T>G	not provided [RCV000838580]	benign	8	93756060	93756060	Human		name
14727849	CV663437	single nucleotide variant	NM_153704.6(TMEM67):c.1575+53G>A	not provided [RCV000834509]	benign	8	93791372	93791372	Human		name
14744234	CV663445	single nucleotide variant	NM_153704.6(TMEM67):c.1860+14G>T	Joubert syndrome [RCV002538333]\|not provided [RCV000842614]	likely benign	8	93796001	93796001	Human	1	name
28870023	CV900519	single nucleotide variant	NM_153704.6(TMEM67):c.2764+10A>T	Joubert syndrome 6 [RCV001163359]\|Joubert syndrome [RCV002558566]\|Meckel syndrome, type 3 [RCV001163358]\|Nephronophthisis 11 [RCV001163357]	likely benign\|uncertain significance	8	93809897	93809897	Human	4	name
150331498	CV1163519	single nucleotide variant	NM_153704.6(TMEM67):c.2764+100T>C	not provided [RCV001527826]	likely benign	8	93809987	93809987	Human		name
150334958	CV1171875	duplication	NM_153704.6(TMEM67):c.406+1090dup	not provided [RCV001540329]	benign	8	93759653	93759654	Human		name
150408482	CV1177066	duplication	NM_153704.6(TMEM67):c.1575+258dup	not provided [RCV001545916]	likely benign	8	93791575	93791576	Human		name
150406661	CV1177068	single nucleotide variant	NM_153704.6(TMEM67):c.2241+112A>G	not provided [RCV001545322]	likely benign	8	93799870	93799870	Human		name
150419310	CV1180466	duplication	NM_153704.6(TMEM67):c.1131+130dup	not provided [RCV001550991]	likely benign	8	93782571	93782572	Human		name
150416315	CV1180469	single nucleotide variant	NM_153704.6(TMEM67):c.2440-246G>T	not provided [RCV001549560]	likely benign	8	93808594	93808594	Human		name
150423138	CV1184133	single nucleotide variant	NM_153704.6(TMEM67):c.1412+110G>A	not provided [RCV001554921]	likely benign	8	93786456	93786456	Human		name
150428989	CV1187368	single nucleotide variant	NM_153704.6(TMEM67):c.1675-197G>A	not provided [RCV001562997]	likely benign	8	93795212	93795212	Human		name
150413448	CV1190813	single nucleotide variant	NM_153704.6(TMEM67):c.406+1463G>A	not provided [RCV001567199]	likely benign	8	93760039	93760039	Human		name
150415375	CV1190815	deletion	NM_153704.6(TMEM67):c.2322+210del	not provided [RCV001567958]	likely benign	8	93803880	93803880	Human		name
150418167	CV1194082	deletion	NM_153704.6(TMEM67):c.2323-165del	not provided [RCV001569092]	likely benign	8	93804584	93804584	Human		name
150453725	CV1205689	single nucleotide variant	NM_153704.6(TMEM67):c.1412+291G>A	not provided [RCV001585590]	likely benign	8	93786637	93786637	Human		name
150470849	CV1209412	single nucleotide variant	NM_153704.6(TMEM67):c.1131+117T>G	not provided [RCV001588523]	likely benign	8	93782577	93782577	Human		name
150483095	CV1223533	duplication	NM_153704.6(TMEM67):c.1065+192dup	not provided [RCV001617247]	benign	8	93781926	93781927	Human		name
150454256	CV1232238	single nucleotide variant	NM_153704.6(TMEM67):c.1861-177C>T	not provided [RCV001648251]	benign	8	93796957	93796957	Human		name
150462113	CV1234864	single nucleotide variant	NM_153704.6(TMEM67):c.1576-181T>C	not provided [RCV001649446]	benign	8	93793017	93793017	Human		name
150487444	CV1237334	single nucleotide variant	NM_153704.6(TMEM67):c.1412+201G>A	not provided [RCV001654183]	benign	8	93786547	93786547	Human		name
150477036	CV1239972	single nucleotide variant	NM_153704.6(TMEM67):c.2440-311A>G	not provided [RCV001652150]	benign	8	93808529	93808529	Human		name
150506983	CV1242347	single nucleotide variant	NM_153704.6(TMEM67):c.2101-193A>C	not provided [RCV001658702]	benign	8	93799425	93799425	Human		name
150469406	CV1243152	single nucleotide variant	NM_153704.6(TMEM67):c.406+1573G>A	not provided [RCV001650671]	benign	8	93760149	93760149	Human		name
150477602	CV1252037	single nucleotide variant	NM_153704.6(TMEM67):c.1065+261G>A	not provided [RCV001672237]	benign	8	93782005	93782005	Human		name
150478555	CV1257167	deletion	NM_153704.6(TMEM67):c.1131+130del	not provided [RCV001672397]	benign	8	93782572	93782572	Human		name
150492925	CV1257450	deletion	NM_153704.6(TMEM67):c.2241+167del	not provided [RCV001675123]	benign	8	93799905	93799905	Human		name
150469420	CV1259655	deletion	NM_153704.6(TMEM67):c.1065+192del	not provided [RCV001683956]	benign	8	93781927	93781927	Human		name
150482284	CV1261596	single nucleotide variant	NM_153704.6(TMEM67):c.2101-166T>C	not provided [RCV001686199]	benign	8	93799452	93799452	Human		name
150447935	CV1270384	deletion	NM_153704.6(TMEM67):c.2764+100del	not provided [RCV001691521]	benign	8	93809972	93809972	Human		name
150504623	CV1285994	single nucleotide variant	NM_153704.6(TMEM67):c.2323-244C>T	not provided [RCV001719417]	benign	8	93804518	93804518	Human		name
150444032	CV1287961	single nucleotide variant	NM_153704.6(TMEM67):c.2439+248C>T	not provided [RCV001725683]	benign	8	93805126	93805126	Human		name
8591191	CV131837	single nucleotide variant	NM_153704.6(TMEM67):c.406+1361C>T	not provided [RCV000834521]\|not specified [RCV000114248]	benign\|likely benign	8	93759937	93759937	Human		name
14729565	CV662914	single nucleotide variant	NM_153704.6(TMEM67):c.406+1379G>A	TMEM67-related disorder [RCV004538147]\|not provided [RCV000835278]\|not specified [RCV001702849]	benign\|likely benign	8	93759955	93759955	Human		name , alternate_id
14721118	CV662918	single nucleotide variant	NM_153704.6(TMEM67):c.1066-239C>T	not provided [RCV000831534]	likely benign	8	93782156	93782156	Human		name
14721121	CV663421	single nucleotide variant	NM_153704.6(TMEM67):c.1131+145C>T	not provided [RCV000831535]	benign	8	93782605	93782605	Human		name
14736676	CV663424	single nucleotide variant	NM_153704.6(TMEM67):c.2322+227A>G	not provided [RCV000838583]	benign	8	93803911	93803911	Human		name
14724831	CV663452	single nucleotide variant	NM_153704.6(TMEM67):c.2661+261A>G	not provided [RCV000833160]	likely benign	8	93809422	93809422	Human		name
14736674	CV663514	single nucleotide variant	NM_153704.6(TMEM67):c.1674+125G>A	not provided [RCV000838582]	benign	8	93793421	93793421	Human		name
14721115	CV663515	single nucleotide variant	NM_153704.6(TMEM67):c.2100+238A>G	not provided [RCV000831533]	benign	8	93797708	93797708	Human		name
14724866	CV663524	single nucleotide variant	NM_153704.6(TMEM67):c.2764+294G>A	not provided [RCV000833174]	benign	8	93810181	93810181	Human		name
8617513	CV71425	single nucleotide variant	NM_001142301.1(TMEM67):c.408+2T>G	Meckel syndrome type 3 [RCV000050199]	likely pathogenic	8	93765648	93765648	Human		name
8617520	CV71433	single nucleotide variant	NM_001142301.1(TMEM67):c.627-2A>G	Meckel syndrome type 3 [RCV000050206]	likely pathogenic	8	93780872	93780872	Human		name
38596995	CV801850	single nucleotide variant	NM_153704.6(TMEM67):c.406+1370C>T	Microcephaly [RCV001252761]	uncertain significance	8	93759946	93759946	Human	2	name
38462554	CV919176	single nucleotide variant	NM_153704.6(TMEM67):c.406+1349G>A	RHYNS syndrome [RCV001198523]	uncertain significance	8	93759925	93759925	Human	1	name
11350904	CV237406	deletion	NM_001142301.1(TMEM67):c.2522-6del	Joubert syndrome [RCV001446497]\|not provided [RCV000224597]\|not specified [RCV000729622]	likely benign\|uncertain significance	8	93815293	93815293	Human	1	name
8617519	CV71432	single nucleotide variant	NM_001142301.1(TMEM67):c.1332+1G>A	Meckel syndrome type 3 [RCV000050205]	likely pathogenic	8	93791320	93791320	Human		name
8591189	CV131835	deletion	NM_153704.6(TMEM67):c.224-4_224-3del	TMEM67-related disorder [RCV004542808]\|not specified [RCV000114246]	benign\|likely benign	8	93755752	93755753	Human		name , alternate_id
152102190	CV1571571	single nucleotide variant	NM_153704.6(TMEM67):c.9G>A (p.Thr3=)	Joubert syndrome [RCV002173245]	likely benign	8	93754923	93754923	Human	1	name
11637380	CV265403	deletion	NM_153704.6(TMEM67):c.224-5_224-3del	not specified [RCV000283497]	benign	8	93755752	93755754	Human		name
405280582	CV3195625	deletion	NM_153704.6(TMEM67):c.224-7_224-3del	TMEM67-related disorder [RCV004536989]	likely benign	8	93755752	93755756	Human		name , trait , alternate_id
41408009	CV962719	deletion	NM_153704.6(TMEM67):c.1057_1065+2del	Nephronophthisis 11 [RCV001281326]	pathogenic	8	93781732	93781742	Human	1	name
150423869	CV1184132	microsatellite	NM_153704.6(TMEM67):c.1065+152TTTG[5]	not provided [RCV001555904]	likely benign	8	93781896	93781899	Human		name
152059886	CV1559111	single nucleotide variant	NM_153704.6(TMEM67):c.18G>C (p.Gly6=)	Joubert syndrome [RCV002167873]	likely benign	8	93754932	93754932	Human	1	name
156414919	CV1955216	deletion	NM_153704.6(TMEM67):c.224-13_224-3del	Joubert syndrome [RCV002588878]\|TMEM67-related disorder [RCV004733515]	likely benign	8	93755752	93755762	Human	4	name , alternate_id
402509375	CV3086951	single nucleotide variant	NM_153704.6(TMEM67):c.15T>G (p.Gly5=)	Joubert syndrome [RCV003789461]	likely benign	8	93754929	93754929	Human	1	name
405124365	CV3113463	insertion	NM_153704.6(TMEM67):c.224-4_224-3insA	Joubert syndrome [RCV003815219]	likely benign	8	93755774	93755775	Human	1	name
405294120	CV3203469	deletion	NM_153704.6(TMEM67):c.224-12_224-3del	TMEM67-related disorder [RCV004532164]	likely benign	8	93755752	93755761	Human		name , trait , alternate_id
408368072	CV3511677	deletion	NM_153704.6(TMEM67):c.224-10_224-3del	TMEM67-related disorder [RCV004733805]	likely benign	8	93755752	93755759	Human		name , trait , alternate_id
151786104	CV1386397	single nucleotide variant	NM_153704.6(TMEM67):c.8C>T (p.Thr3Met)	COACH syndrome 1 [RCV002503512]\|Inborn genetic diseases [RCV004970420]\|Joubert syndrome [RCV001893162]	uncertain significance	8	93754922	93754922	Human	3	name
151721354	CV1469305	single nucleotide variant	NM_153704.6(TMEM67):c.5C>T (p.Ala2Val)	COACH syndrome 1 [RCV005397046]\|Joubert syndrome [RCV002039676]	uncertain significance	8	93754919	93754919	Human	2	name
151793803	CV1470761	single nucleotide variant	NM_153704.6(TMEM67):c.1A>G (p.Met1Val)	COACH syndrome 1 [RCV005042488]\|Joubert syndrome [RCV001909109]	uncertain significance	8	93754915	93754915	Human	2	name
152082720	CV1526237	single nucleotide variant	NM_153704.6(TMEM67):c.57C>A (p.Ala19=)	Joubert syndrome [RCV002170750]	likely benign	8	93754971	93754971	Human	1	name
152058451	CV1567512	single nucleotide variant	NM_153704.6(TMEM67):c.36G>A (p.Ala12=)	Joubert syndrome [RCV002146507]	likely benign	8	93754950	93754950	Human	1	name
152102779	CV1605977	single nucleotide variant	NM_153704.6(TMEM67):c.69C>T (p.Thr23=)	Joubert syndrome [RCV002095747]	likely benign	8	93754983	93754983	Human	1	name
152108908	CV1643725	single nucleotide variant	NM_153704.6(TMEM67):c.79C>T (p.Leu27=)	Joubert syndrome [RCV002096570]	likely benign	8	93754993	93754993	Human	1	name
155973834	CV2135940	single nucleotide variant	NM_153704.6(TMEM67):c.45C>T (p.Ser15=)	Joubert syndrome [RCV002995755]	likely benign	8	93754959	93754959	Human	1	name
401924147	CV2821173	single nucleotide variant	NM_153704.6(TMEM67):c.63C>T (p.Ala21=)	not provided [RCV003435554]	likely benign	8	93754977	93754977	Human		name
404983737	CV3087165	single nucleotide variant	NM_153704.6(TMEM67):c.48C>T (p.Leu16=)	Joubert syndrome [RCV003781628]	likely benign	8	93754962	93754962	Human	1	name
402496302	CV3092379	single nucleotide variant	NM_153704.6(TMEM67):c.66G>A (p.Val22=)	Joubert syndrome [RCV003787999]	likely benign	8	93754980	93754980	Human	1	name
405048948	CV3097518	single nucleotide variant	NM_153704.6(TMEM67):c.69C>G (p.Thr23=)	Joubert syndrome [RCV003808098]	likely benign	8	93754983	93754983	Human	1	name
405081843	CV3107433	single nucleotide variant	NM_153704.6(TMEM67):c.36G>C (p.Ala12=)	Joubert syndrome [RCV003800303]	likely benign	8	93754950	93754950	Human	1	name
405159970	CV3109755	single nucleotide variant	NM_153704.6(TMEM67):c.39T>G (p.Val13=)	Joubert syndrome [RCV003802114]	likely benign	8	93754953	93754953	Human	1	name
405104501	CV3114432	single nucleotide variant	NM_153704.6(TMEM67):c.99C>T (p.Phe33=)	Joubert syndrome [RCV003812271]	likely benign	8	93755013	93755013	Human	1	name
597885491	CV3866500	deletion	NM_153704.6(TMEM67):c.978+14_978+22del	Joubert syndrome [RCV005217976]	likely benign	8	93780994	93781002	Human	1	name
597870985	CV3869994	single nucleotide variant	NM_153704.6(TMEM67):c.90C>T (p.Leu30=)	Joubert syndrome [RCV005215724]	likely benign	8	93755004	93755004	Human	1	name
597847230	CV3872666	single nucleotide variant	NM_153704.6(TMEM67):c.60G>A (p.Arg20=)	Joubert syndrome [RCV005212302]	likely benign	8	93754974	93754974	Human	1	name
13621209	CV524343	inversion	NM_153704.6(TMEM67):c.1774-6_1774-3inv	Joubert syndrome [RCV000636956]	likely pathogenic	8	93795895	93795898	Human		name
13831642	CV582139	single nucleotide variant	NM_153704.6(TMEM67):c.3G>T (p.Met1Ile)	not provided [RCV000722322]	uncertain significance	8	93754917	93754917	Human		name
151808430	CV1346360	single nucleotide variant	NM_153704.6(TMEM67):c.231A>G (p.Ser77=)	Joubert syndrome [RCV001936722]	likely benign\|uncertain significance	8	93755785	93755785	Human	1	name
152044466	CV1552374	single nucleotide variant	NM_153704.6(TMEM67):c.108C>G (p.Ala36=)	Joubert syndrome [RCV002166110]	likely benign	8	93755022	93755022	Human	1	name
152160786	CV1601787	single nucleotide variant	NM_153704.6(TMEM67):c.237A>G (p.Val79=)	Joubert syndrome [RCV002180895]	likely benign	8	93755791	93755791	Human	1	name
152134977	CV1638475	deletion	NM_153704.6(TMEM67):c.1132-14_1132-9del	Joubert syndrome [RCV002083381]	likely benign	8	93785203	93785208	Human	1	name
10049609	CV190671	single nucleotide variant	NM_153704.6(TMEM67):c.25G>A (p.Val9Met)	COACH syndrome 1 [RCV002485119]\|Joubert syndrome 1 [RCV000988093]\|Joubert syndrome [RCV000860917]\|TMEM67-related disorder [RCV004539599]\|not provided [RCV001704249]\|not specified [RCV000173581]	benign\|likely benign\|conflicting interpretations of pathogenicity	8	93754939	93754939	Human	10	name , alternate_id
156443962	CV1941240	single nucleotide variant	NM_153704.6(TMEM67):c.13G>T (p.Gly5Cys)	Joubert syndrome [RCV003114876]	uncertain significance	8	93754927	93754927	Human	1	name
156220664	CV2025026	single nucleotide variant	NM_153704.6(TMEM67):c.174C>T (p.Ser58=)	Joubert syndrome [RCV002712132]\|TMEM67-related disorder [RCV004534178]	likely benign	8	93755088	93755088	Human	4	name , alternate_id
155971946	CV2078018	single nucleotide variant	NM_153704.6(TMEM67):c.270T>C (p.Asn90=)	Joubert syndrome [RCV002863358]	likely benign	8	93755824	93755824	Human	1	name
10408652	CV212651	single nucleotide variant	NM_153704.6(TMEM67):c.186T>C (p.Cys62=)	Joubert syndrome 6 [RCV000339372]\|Joubert syndrome [RCV000196386]\|Meckel syndrome, type 3 [RCV000291370]\|Nephronophthisis 11 [RCV000377674]\|not provided [RCV001705157]\|not specified [RCV000245192]	benign\|likely benign\|uncertain significance	8	93755100	93755100	Human	4	name
155935709	CV2138814	single nucleotide variant	NM_153704.6(TMEM67):c.180C>T (p.Leu60=)	Joubert syndrome [RCV002993704]	likely benign	8	93755094	93755094	Human	1	name
11544731	CV253195	single nucleotide variant	NM_153704.6(TMEM67):c.120T>C (p.Ser40=)	Joubert syndrome 6 [RCV000274744]\|Joubert syndrome [RCV000636980]\|Meckel syndrome, type 3 [RCV000332073]\|Nephronophthisis 11 [RCV000388990]\|not provided [RCV001727663]\|not specified [RCV000244178]	likely benign\|uncertain significance	8	93755034	93755034	Human	4	name
11550966	CV253196	single nucleotide variant	NM_153704.6(TMEM67):c.261C>T (p.Ile87=)	Joubert syndrome [RCV002518661]\|not specified [RCV000252436]	likely benign	8	93755815	93755815	Human	1	name
405003014	CV3086456	single nucleotide variant	NM_153704.6(TMEM67):c.246A>G (p.Pro82=)	Joubert syndrome [RCV003783670]	likely benign	8	93755800	93755800	Human	1	name
402502012	CV3093413	single nucleotide variant	NM_153704.6(TMEM67):c.159G>A (p.Gln53=)	Joubert syndrome [RCV003788720]	likely benign	8	93755073	93755073	Human	1	name
402483061	CV3093544	single nucleotide variant	NM_153704.6(TMEM67):c.177C>T (p.Ala59=)	Joubert syndrome [RCV003786741]	likely benign	8	93755091	93755091	Human	1	name
405029863	CV3095174	single nucleotide variant	NM_153704.6(TMEM67):c.231A>T (p.Ser77=)	Joubert syndrome [RCV003796379]	likely benign	8	93755785	93755785	Human	1	name
404977432	CV3102686	single nucleotide variant	NM_153704.6(TMEM67):c.114C>T (p.Thr38=)	Joubert syndrome [RCV003790780]	likely benign	8	93755028	93755028	Human	1	name
405014748	CV3106661	single nucleotide variant	NM_153704.6(TMEM67):c.237A>T (p.Val79=)	Joubert syndrome [RCV003794998]	likely benign	8	93755791	93755791	Human	1	name
405083897	CV3107610	single nucleotide variant	NM_153704.6(TMEM67):c.273A>C (p.Gly91=)	Joubert syndrome [RCV003800480]	likely benign	8	93755827	93755827	Human	1	name
405063282	CV3108812	single nucleotide variant	NM_153704.6(TMEM67):c.243A>C (p.Leu81=)	Joubert syndrome [RCV003809222]	likely benign	8	93755797	93755797	Human	1	name
405064283	CV3108864	single nucleotide variant	NM_153704.6(TMEM67):c.177C>A (p.Ala59=)	Joubert syndrome [RCV003809274]	likely benign	8	93755091	93755091	Human	1	name
408382767	CV3506003	single nucleotide variant	NM_153704.6(TMEM67):c.150C>T (p.Asp50=)	TMEM67-related disorder [RCV004730148]	likely benign	8	93755064	93755064	Human		name , trait , alternate_id
408367976	CV3508472	single nucleotide variant	NM_153704.6(TMEM67):c.231A>C (p.Ser77=)	TMEM67-related disorder [RCV004733717]	likely benign	8	93755785	93755785	Human		name , trait , alternate_id
408367977	CV3508515	single nucleotide variant	NM_153704.6(TMEM67):c.237A>C (p.Val79=)	TMEM67-related disorder [RCV004733718]	likely benign	8	93755791	93755791	Human		name , trait , alternate_id
408367996	CV3511608	single nucleotide variant	NM_153704.6(TMEM67):c.10C>G (p.Arg4Gly)	TMEM67-related disorder [RCV004733802]	uncertain significance	8	93754924	93754924	Human		name , trait , alternate_id
597667160	CV3719232	microsatellite	NM_153704.6(TMEM67):c.1773+7_1773+10dup	COACH syndrome 1 [RCV005043475]	uncertain significance	8	93795506	93795507	Human		name
597870756	CV3869959	duplication	NM_153704.6(TMEM67):c.2557-11_2557-3dup	Joubert syndrome [RCV005215689]	likely benign	8	93809043	93809044	Human	1	name
597865340	CV3872614	deletion	NM_153704.6(TMEM67):c.2440-10_2440-6del	Joubert syndrome [RCV005214889]	likely benign	8	93808828	93808832	Human	1	name
15148737	CV687323	single nucleotide variant	NM_153704.6(TMEM67):c.192T>C (p.Pro64=)	COACH syndrome 1 [RCV002478971]\|Joubert syndrome [RCV001490452]\|TMEM67-related disorder [RCV004733072]	likely benign	8	93755106	93755106	Human	10	name , alternate_id
15146860	CV687324	single nucleotide variant	NM_153704.6(TMEM67):c.279T>C (p.Pro93=)	Joubert syndrome [RCV001442985]	likely benign	8	93755833	93755833	Human	1	name
28869293	CV900151	single nucleotide variant	NM_153704.6(TMEM67):c.282T>C (p.Ala94=)	Joubert syndrome 6 [RCV001163027]\|Meckel syndrome, type 3 [RCV001163028]\|Nephronophthisis 11 [RCV001163026]	uncertain significance	8	93755836	93755836	Human	3	name
126914387	CV1037883	single nucleotide variant	NM_153704.6(TMEM67):c.31A>G (p.Met11Val)	COACH syndrome 1 [RCV002486490]\|Inborn genetic diseases [RCV004968115]\|Joubert syndrome [RCV001871950]\|not provided [RCV001358212]	uncertain significance	8	93754945	93754945	Human	3	name
127257196	CV1075602	single nucleotide variant	NM_153704.6(TMEM67):c.471A>G (p.Glu157=)	Joubert syndrome [RCV001419203]	likely benign	8	93763906	93763906	Human	1	name
127251514	CV1075603	single nucleotide variant	NM_153704.6(TMEM67):c.882T>C (p.Leu294=)	COACH syndrome 1 [RCV002493950]\|Joubert syndrome [RCV001400110]	likely benign	8	93780886	93780886	Human	2	name
151813697	CV1371701	single nucleotide variant	NM_153704.6(TMEM67):c.88C>T (p.Leu30Phe)	COACH syndrome 1 [RCV002491887]\|Inborn genetic diseases [RCV002557716]\|Joubert syndrome [RCV001947810]\|TMEM67-related disorder [RCV004733417]\|not provided [RCV002281199]	uncertain significance	8	93755002	93755002	Human	11	name , alternate_id
151786167	CV1386613	single nucleotide variant	NM_153704.6(TMEM67):c.55G>T (p.Ala19Ser)	Joubert syndrome [RCV001893284]	uncertain significance	8	93754969	93754969	Human	1	name
151788613	CV1392760	single nucleotide variant	NM_153704.6(TMEM67):c.75C>G (p.Phe25Leu)	COACH syndrome 1 [RCV002490213]\|Joubert syndrome [RCV001898726]\|not provided [RCV004693916]	uncertain significance	8	93754989	93754989	Human	2	name
151783365	CV1414724	single nucleotide variant	NM_153704.6(TMEM67):c.28G>A (p.Ala10Thr)	Inborn genetic diseases [RCV004041608]\|Joubert syndrome [RCV001887509]	uncertain significance	8	93754942	93754942	Human	2	name
151802924	CV1431613	single nucleotide variant	NM_153704.6(TMEM67):c.32T>A (p.Met11Lys)	Joubert syndrome [RCV001926589]	uncertain significance	8	93754946	93754946	Human	1	name
151716777	CV1433776	single nucleotide variant	NM_153704.6(TMEM67):c.64G>A (p.Val22Met)	Joubert syndrome [RCV002024489]\|TMEM67-related disorder [RCV004733456]\|not provided [RCV003138054]	uncertain significance	8	93754978	93754978	Human	4	name , alternate_id
151802007	CV1466516	single nucleotide variant	NM_153704.6(TMEM67):c.507G>A (p.Arg169=)	Joubert syndrome [RCV001925102]	uncertain significance	8	93765406	93765406	Human	1	name
151773544	CV1466792	single nucleotide variant	NM_153704.6(TMEM67):c.46C>T (p.Leu16Phe)	Inborn genetic diseases [RCV004041064]\|Joubert syndrome [RCV001871234]\|TMEM67-related disorder [RCV004733394]\|not provided [RCV002300608]	uncertain significance	8	93754960	93754960	Human	5	name , alternate_id
151816911	CV1494451	single nucleotide variant	NM_153704.6(TMEM67):c.42G>T (p.Trp14Cys)	Joubert syndrome [RCV001955041]	uncertain significance	8	93754956	93754956	Human	1	name
151794086	CV1496920	single nucleotide variant	NM_153704.6(TMEM67):c.67A>G (p.Thr23Ala)	Joubert syndrome [RCV001909683]	uncertain significance	8	93754981	93754981	Human	1	name
152161718	CV1534832	single nucleotide variant	NM_153704.6(TMEM67):c.594C>T (p.Phe198=)	Joubert syndrome [RCV002141031]	likely benign	8	93765589	93765589	Human	1	name
152162460	CV1535051	single nucleotide variant	NM_153704.6(TMEM67):c.786T>C (p.Phe262=)	Joubert syndrome [RCV002141154]	likely benign	8	93780664	93780664	Human	1	name
152143026	CV1538339	single nucleotide variant	NM_153704.6(TMEM67):c.582G>A (p.Gly194=)	Joubert syndrome [RCV002219629]	likely benign	8	93765577	93765577	Human	1	name
152120036	CV1547197	single nucleotide variant	NM_153704.6(TMEM67):c.780C>T (p.Tyr260=)	COACH syndrome 1 [RCV002494480]\|Joubert syndrome [RCV002154136]	likely benign	8	93780658	93780658	Human	2	name
152090503	CV1563285	single nucleotide variant	NM_153704.6(TMEM67):c.510C>T (p.Cys170=)	Joubert syndrome [RCV002114013]	likely benign	8	93765409	93765409	Human	1	name
152134485	CV1571540	single nucleotide variant	NM_153704.6(TMEM67):c.972A>G (p.Glu324=)	Joubert syndrome [RCV002177241]	likely benign	8	93780976	93780976	Human	1	name
152169971	CV1592204	single nucleotide variant	NM_153704.6(TMEM67):c.546G>A (p.Arg182=)	Joubert syndrome [RCV002161616]	likely benign	8	93765445	93765445	Human	1	name
152073770	CV1599074	single nucleotide variant	NM_153704.6(TMEM67):c.318T>C (p.Gly106=)	Joubert syndrome [RCV002148435]	likely benign	8	93758488	93758488	Human	1	name
152172629	CV1599203	single nucleotide variant	NM_153704.6(TMEM67):c.783C>T (p.Asp261=)	Joubert syndrome [RCV002143842]	likely benign	8	93780661	93780661	Human	1	name
8556152	CV16407	indel	NM_153704.6(TMEM67):c.2315_2322+4delinsG	Joubert syndrome 6 [RCV000001433]	pathogenic	8	93803677	93803688	Human		name
152106060	CV1640864	single nucleotide variant	NM_153704.6(TMEM67):c.846C>T (p.Ser282=)	Joubert syndrome [RCV002096176]	likely benign	8	93780724	93780724	Human	1	name
152073733	CV1660420	single nucleotide variant	NM_153704.6(TMEM67):c.37G>A (p.Val13Ile)	Inborn genetic diseases [RCV003348783]\|Joubert syndrome [RCV002169626]	likely benign\|uncertain significance	8	93754951	93754951	Human	2	name
155645604	CV1710941	single nucleotide variant	NM_153704.6(TMEM67):c.333C>T (p.Gly111=)	Atypical hemolytic-uremic syndrome [RCV002294722]\|Joubert syndrome [RCV003101704]\|TMEM67-related disorder [RCV004534045]	likely benign\|uncertain significance	8	93758503	93758503	Human	5	name , alternate_id
156072912	CV1893694	single nucleotide variant	NM_153704.6(TMEM67):c.92C>T (p.Pro31Leu)	Joubert syndrome [RCV003079600]	uncertain significance	8	93755006	93755006	Human	1	name
156028966	CV1914211	single nucleotide variant	NM_153704.6(TMEM67):c.666T>A (p.Thr222=)	Joubert syndrome [RCV002619761]	likely benign	8	93772603	93772603	Human	1	name
156060516	CV1925585	single nucleotide variant	NM_153704.6(TMEM67):c.840A>G (p.Gly280=)	Joubert syndrome [RCV002620933]	likely benign	8	93780718	93780718	Human	1	name
156297054	CV1955358	single nucleotide variant	NM_153704.6(TMEM67):c.429A>T (p.Thr143=)	Joubert syndrome [RCV002578058]	likely benign	8	93763864	93763864	Human	1	name
156416072	CV1983947	single nucleotide variant	NM_153704.6(TMEM67):c.56C>A (p.Ala19Asp)	COACH syndrome 1 [RCV005050612]\|Joubert syndrome [RCV002609982]	uncertain significance	8	93754970	93754970	Human	2	name
156015784	CV2009138	single nucleotide variant	NM_153704.6(TMEM67):c.67A>T (p.Thr23Ser)	Joubert syndrome [RCV002690756]	uncertain significance	8	93754981	93754981	Human	1	name
156095445	CV2050843	single nucleotide variant	NM_153704.6(TMEM67):c.71C>T (p.Ala24Val)	Joubert syndrome [RCV002824351]	uncertain significance	8	93754985	93754985	Human	1	name
155936431	CV2074884	single nucleotide variant	NM_153704.6(TMEM67):c.939C>T (p.Thr313=)	Joubert syndrome [RCV002861472]	likely benign	8	93780943	93780943	Human	1	name
156237431	CV2081887	deletion	NM_153704.6(TMEM67):c.2100+11_2100+14del	Joubert syndrome [RCV002876472]	likely benign	8	93797479	93797482	Human	1	name
156184696	CV2086494	single nucleotide variant	NM_153704.6(TMEM67):c.423T>C (p.Asn141=)	Joubert syndrome [RCV002851945]	likely benign	8	93763858	93763858	Human	1	name
156258742	CV2142344	single nucleotide variant	NM_153704.6(TMEM67):c.840A>C (p.Gly280=)	Joubert syndrome [RCV002988390]	likely benign	8	93780718	93780718	Human	1	name
156236851	CV2155806	single nucleotide variant	NM_153704.6(TMEM67):c.720T>C (p.Tyr240=)	Joubert syndrome [RCV003007954]	likely benign	8	93780598	93780598	Human	1	name
156403119	CV2189755	single nucleotide variant	NM_153704.6(TMEM67):c.94C>A (p.Arg32Ser)	Joubert syndrome [RCV003052529]	uncertain significance	8	93755008	93755008	Human	1	name
243056690	CV2418884	deletion	NM_153704.6(TMEM67):c.114del (p.Phe39fs)	Joubert syndrome and related disorders [RCV003155852]	likely pathogenic	8	93755027	93755027	Human	1	name
11545293	CV253202	single nucleotide variant	NM_153704.6(TMEM67):c.717A>G (p.Val239=)	Joubert syndrome [RCV001394370]\|not provided [RCV000867942]\|not specified [RCV000244943]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	93780595	93780595	Human	1	name
11642912	CV270862	single nucleotide variant	NM_153704.6(TMEM67):c.369C>T (p.Ala123=)	Inborn genetic diseases [RCV004965374]\|Joubert syndrome 6 [RCV001163031]\|Joubert syndrome [RCV001087787]\|Meckel syndrome, type 3 [RCV001163030]\|Nephronophthisis 11 [RCV001163029]\|not provided [RCV000384341]\|not specified [RCV001699422]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	93758539	93758539	Human	5	name
401920417	CV2797612	single nucleotide variant	NM_153704.6(TMEM67):c.91C>T (p.Pro31Ser)	TMEM67-related disorder [RCV004531720]	uncertain significance	8	93755005	93755005	Human		name , trait , alternate_id
11603734	CV306007	single nucleotide variant	NM_153704.6(TMEM67):c.29C>T (p.Ala10Val)	COACH syndrome 1 [RCV002488815]\|Joubert syndrome 6 [RCV000341063]\|Joubert syndrome [RCV002523703]\|Meckel syndrome, type 3 [RCV000397407]\|Nephronophthisis 11 [RCV000302454]	uncertain significance	8	93754943	93754943	Human	5	name
405026092	CV3082143	single nucleotide variant	NM_153704.6(TMEM67):c.522G>A (p.Glu174=)	Joubert syndrome [RCV003785751]	likely benign	8	93765421	93765421	Human	1	name
404983247	CV3083059	single nucleotide variant	NM_153704.6(TMEM67):c.789C>T (p.Ala263=)	Joubert syndrome [RCV003781566]	likely benign	8	93780667	93780667	Human	1	name
404988611	CV3084008	single nucleotide variant	NM_153704.6(TMEM67):c.990G>A (p.Leu330=)	Joubert syndrome [RCV003782200]	likely benign	8	93781669	93781669	Human	1	name
404993228	CV3091495	single nucleotide variant	NM_153704.6(TMEM67):c.654C>G (p.Gly218=)	Joubert syndrome [RCV003792970]	likely benign	8	93772591	93772591	Human	1	name
402495570	CV3092427	deletion	NM_153704.6(TMEM67):c.1289-16_1289-12del	Joubert syndrome [RCV003788047]	likely pathogenic	8	93786203	93786207	Human	1	name
402489583	CV3094253	single nucleotide variant	NM_153704.6(TMEM67):c.390C>T (p.Pro130=)	Joubert syndrome [RCV003787295]	likely benign	8	93758560	93758560	Human	1	name
405029664	CV3095866	single nucleotide variant	NM_153704.6(TMEM67):c.333C>G (p.Gly111=)	Joubert syndrome [RCV003796363]	likely benign	8	93758503	93758503	Human	1	name
11651105	CV310036	single nucleotide variant	NM_153704.6(TMEM67):c.77T>C (p.Leu26Pro)	Joubert syndrome 6 [RCV000354267]\|Meckel syndrome, type 3 [RCV000297014]\|Nephronophthisis 11 [RCV000397415]	uncertain significance	8	93754991	93754991	Human	3	name
405078958	CV3100536	single nucleotide variant	NM_153704.6(TMEM67):c.744T>C (p.Ala248=)	Joubert syndrome [RCV003800089]	likely benign	8	93780622	93780622	Human	1	name
405018628	CV3100837	single nucleotide variant	NM_153704.6(TMEM67):c.330T>C (p.Asp110=)	Joubert syndrome [RCV003805585]	likely benign	8	93758500	93758500	Human	1	name
405178376	CV3101554	single nucleotide variant	NM_153704.6(TMEM67):c.687T>C (p.Tyr229=)	Joubert syndrome [RCV003803767]	likely benign	8	93772624	93772624	Human	1	name
405060475	CV3102788	single nucleotide variant	NM_153704.6(TMEM67):c.708A>G (p.Ala236=)	Joubert syndrome [RCV003798778]	likely benign	8	93772645	93772645	Human	1	name
405073100	CV3103993	single nucleotide variant	NM_153704.6(TMEM67):c.897T>C (p.Tyr299=)	Joubert syndrome [RCV003799663]	likely benign	8	93780901	93780901	Human	1	name
405009472	CV3106006	single nucleotide variant	NM_153704.6(TMEM67):c.801A>G (p.Ala267=)	Joubert syndrome [RCV003794504]	likely benign	8	93780679	93780679	Human	1	name
405040608	CV3106752	single nucleotide variant	NM_153704.6(TMEM67):c.654C>T (p.Gly218=)	Joubert syndrome [RCV003797281]	likely benign	8	93772591	93772591	Human	1	name
405035789	CV3108627	single nucleotide variant	NM_153704.6(TMEM67):c.408G>T (p.Val136=)	Joubert syndrome [RCV003807085]	likely benign	8	93763843	93763843	Human	1	name
405071608	CV3111421	single nucleotide variant	NM_153704.6(TMEM67):c.849T>G (p.Thr283=)	Joubert syndrome [RCV003809760]	likely benign	8	93780727	93780727	Human	1	name
405072286	CV3111489	single nucleotide variant	NM_153704.6(TMEM67):c.360C>T (p.Asp120=)	Joubert syndrome [RCV003809828]	likely benign	8	93758530	93758530	Human	1	name
405042362	CV3112971	single nucleotide variant	NM_153704.6(TMEM67):c.741A>G (p.Gln247=)	Joubert syndrome [RCV003807638]	likely benign	8	93780619	93780619	Human	1	name
405011885	CV3113960	single nucleotide variant	NM_153704.6(TMEM67):c.810A>G (p.Leu270=)	Joubert syndrome [RCV003804982]	likely benign	8	93780688	93780688	Human	1	name
408367930	CV3508722	single nucleotide variant	NM_153704.6(TMEM67):c.492T>C (p.Asn164=)	TMEM67-related disorder [RCV004733724]	likely benign	8	93763927	93763927	Human		name , trait , alternate_id
597882665	CV3865920	single nucleotide variant	NM_153704.6(TMEM67):c.864A>G (p.Ser288=)	Joubert syndrome [RCV005217585]	likely benign	8	93780742	93780742	Human	1	name
597883372	CV3865992	single nucleotide variant	NM_153704.6(TMEM67):c.618A>G (p.Leu206=)	Joubert syndrome [RCV005217657]	likely benign	8	93765613	93765613	Human	1	name
597885014	CV3866434	deletion	NM_153704.6(TMEM67):c.252del (p.Gln85fs)	Joubert syndrome [RCV005217910]	pathogenic	8	93755804	93755804	Human	1	name
597853400	CV3869811	single nucleotide variant	NM_153704.6(TMEM67):c.537T>C (p.Asn179=)	Joubert syndrome [RCV005213096]	likely benign	8	93765436	93765436	Human	1	name
597906938	CV3870257	single nucleotide variant	NM_153704.6(TMEM67):c.705T>C (p.Ala235=)	Joubert syndrome [RCV005221308]	likely benign	8	93772642	93772642	Human	1	name
597864289	CV3872419	single nucleotide variant	NM_153704.6(TMEM67):c.871A>C (p.Arg291=)	Joubert syndrome [RCV005214694]	likely benign	8	93780875	93780875	Human	1	name
597922568	CV3875525	single nucleotide variant	NM_153704.6(TMEM67):c.444A>G (p.Ala148=)	Joubert syndrome [RCV005223612]	likely benign	8	93763879	93763879	Human	1	name
13836656	CV587934	single nucleotide variant	NM_153704.6(TMEM67):c.50T>A (p.Leu17Ter)	COACH syndrome 1 [RCV005047001]\|Joubert syndrome [RCV003768227]\|Joubert syndrome and related disorders [RCV004586909]\|not provided [RCV000732837]	pathogenic\|likely pathogenic	8	93754964	93754964	Human	2	name
26885984	CV835149	single nucleotide variant	NM_153704.6(TMEM67):c.87C>A (p.Phe29Leu)	COACH syndrome 1 [RCV002489693]\|Joubert syndrome [RCV001065778]\|TMEM67-related disorder [RCV004733144]	uncertain significance	8	93755001	93755001	Human	10	name , alternate_id
34896047	CV917026	single nucleotide variant	NM_153704.6(TMEM67):c.43T>A (p.Ser15Thr)	COACH syndrome 1 [RCV002480641]\|Joubert syndrome [RCV002561008]\|not specified [RCV001193312]	likely benign\|uncertain significance	8	93754957	93754957	Human	2	name
8643440	CV102423	single nucleotide variant	NM_153704.6(TMEM67):c.2892A>C (p.Thr964=)	Joubert syndrome 6 [RCV000290988]\|Joubert syndrome [RCV000471831]\|Meckel syndrome, type 3 [RCV000327495]\|Nephronophthisis 11 [RCV000376078]\|not provided [RCV001682791]\|not specified [RCV000082682]	benign\|likely benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters	8	93815432	93815432	Human	4	name
126768447	CV1028708	single nucleotide variant	NM_153704.6(TMEM67):c.137C>A (p.Pro46Gln)	COACH syndrome 1 [RCV002499684]\|Joubert syndrome [RCV001343365]	uncertain significance	8	93755051	93755051	Human	2	name
127237386	CV1053987	single nucleotide variant	NM_153704.6(TMEM67):c.230C>A (p.Ser77Ter)	Joubert syndrome 6 [RCV001376183]	pathogenic	8	93755784	93755784	Human	1	name
127230362	CV1075605	single nucleotide variant	NM_153704.6(TMEM67):c.2835G>A (p.Leu945=)	Joubert syndrome [RCV001412442]	likely benign	8	93815375	93815375	Human	1	name
127296096	CV1118840	single nucleotide variant	NM_153704.6(TMEM67):c.1203T>C (p.Tyr401=)	Joubert syndrome [RCV001477249]	likely benign	8	93785293	93785293	Human	1	name
151727949	CV1242041	single nucleotide variant	NM_153704.6(TMEM67):c.2439G>A (p.Ala813=)	Joubert syndrome [RCV002538533]\|Joubert syndrome and related disorders [RCV002509688]\|Meckel syndrome, type 3 [RCV001844407]	pathogenic	8	93804878	93804878	Human	2	name
150553190	CV1298225	single nucleotide variant	NM_153704.6(TMEM67):c.166G>T (p.Asp56Tyr)	not provided [RCV001768838]	uncertain significance	8	93755080	93755080	Human		name
8591190	CV131836	single nucleotide variant	NM_153704.6(TMEM67):c.2397T>C (p.Asp799=)	Bardet-Biedl syndrome 14 [RCV000585745]\|COACH syndrome 1 [RCV002477265]\|Joubert syndrome 6 [RCV001158619]\|Joubert syndrome [RCV000205181]\|Kidney disorder [RCV002294034]\|Meckel syndrome, type 3 [RCV001158617]\|Nephronophthisis 11 [RCV001158618]\|not provided [RCV001650942]\|not specified [RCV000114247]	benign\|likely benign\|uncertain significance	8	93804836	93804836	Human	12	name
151796272	CV1340377	single nucleotide variant	NM_153704.6(TMEM67):c.123C>G (p.Phe41Leu)	Joubert syndrome [RCV001913585]	uncertain significance	8	93755037	93755037	Human	1	name
151713895	CV1352039	single nucleotide variant	NM_153704.6(TMEM67):c.210G>C (p.Arg70Ser)	Joubert syndrome [RCV002013525]	uncertain significance	8	93755124	93755124	Human	1	name
151812810	CV1366565	single nucleotide variant	NM_153704.6(TMEM67):c.152A>G (p.Asn51Ser)	COACH syndrome 1 [RCV005042541]\|Joubert syndrome [RCV001945769]	uncertain significance	8	93755066	93755066	Human	2	name
151799546	CV1414787	single nucleotide variant	NM_153704.6(TMEM67):c.2373T>C (p.Gly791=)	Joubert syndrome [RCV001920075]	likely benign\|uncertain significance	8	93804812	93804812	Human	1	name
151713029	CV1426477	single nucleotide variant	NM_153704.6(TMEM67):c.239G>A (p.Cys80Tyr)	Joubert syndrome [RCV002009713]	uncertain significance	8	93755793	93755793	Human	1	name
151713533	CV1442344	single nucleotide variant	NM_153704.6(TMEM67):c.150C>A (p.Asp50Glu)	COACH syndrome 1 [RCV002479772]\|Joubert syndrome [RCV002011656]	uncertain significance	8	93755064	93755064	Human	2	name
151777173	CV1456929	single nucleotide variant	NM_153704.6(TMEM67):c.167A>G (p.Asp56Gly)	Joubert syndrome [RCV001877661]	uncertain significance	8	93755081	93755081	Human	1	name
151714033	CV1465435	single nucleotide variant	NM_153704.6(TMEM67):c.148G>C (p.Asp50His)	Joubert syndrome [RCV002014105]	uncertain significance	8	93755062	93755062	Human	1	name
151712717	CV1478305	single nucleotide variant	NM_153704.6(TMEM67):c.169A>G (p.Ile57Val)	Inborn genetic diseases [RCV003170378]\|Joubert syndrome [RCV002008155]	uncertain significance	8	93755083	93755083	Human	2	name
151711581	CV1491465	single nucleotide variant	NM_153704.6(TMEM67):c.283A>G (p.Ile95Val)	COACH syndrome 1 [RCV002492255]\|Joubert syndrome [RCV002003542]	uncertain significance	8	93755837	93755837	Human	2	name
151711674	CV1511850	single nucleotide variant	NM_153704.6(TMEM67):c.148G>A (p.Asp50Asn)	Joubert syndrome [RCV002003948]	uncertain significance	8	93755062	93755062	Human	1	name
151770656	CV1512978	single nucleotide variant	NM_153704.6(TMEM67):c.288T>G (p.Ile96Met)	Inborn genetic diseases [RCV002545821]\|Joubert syndrome [RCV001866875]	uncertain significance	8	93755842	93755842	Human	2	name
152116774	CV1566287	single nucleotide variant	NM_153704.6(TMEM67):c.1956T>G (p.Val652=)	Joubert syndrome [RCV002153753]	likely benign	8	93797229	93797229	Human	1	name
152103250	CV1571861	single nucleotide variant	NM_153704.6(TMEM67):c.2370T>C (p.His790=)	Joubert syndrome [RCV002173375]	likely benign	8	93804809	93804809	Human	1	name
152174980	CV1572817	single nucleotide variant	NM_153704.6(TMEM67):c.2208T>C (p.Ser736=)	Joubert syndrome [RCV002144625]	likely benign	8	93799725	93799725	Human	1	name
152175869	CV1580121	single nucleotide variant	NM_153704.6(TMEM67):c.2298C>T (p.Phe766=)	Joubert syndrome [RCV002164006]	likely benign	8	93803660	93803660	Human	1	name
152039202	CV1592698	single nucleotide variant	NM_153704.6(TMEM67):c.2814T>C (p.Thr938=)	Joubert syndrome [RCV002187998]	likely benign	8	93815354	93815354	Human	1	name
152085867	CV1599330	single nucleotide variant	NM_153704.6(TMEM67):c.1014T>C (p.Asp338=)	Joubert syndrome [RCV002093473]\|not provided [RCV004706320]	likely benign	8	93781693	93781693	Human	1	name
152047453	CV1614553	single nucleotide variant	NM_153704.6(TMEM67):c.1836T>C (p.Tyr612=)	Joubert syndrome [RCV002071763]	likely benign	8	93795963	93795963	Human	1	name
152149432	CV1616803	single nucleotide variant	NM_153704.6(TMEM67):c.1317T>A (p.Thr439=)	Joubert syndrome [RCV002201739]	likely benign	8	93786251	93786251	Human	1	name
152142336	CV1636387	single nucleotide variant	NM_153704.6(TMEM67):c.2790C>T (p.Val930=)	Joubert syndrome [RCV002120545]	likely benign	8	93815330	93815330	Human	1	name
152134943	CV1638471	single nucleotide variant	NM_153704.6(TMEM67):c.1911C>T (p.Phe637=)	Joubert syndrome [RCV002083377]	likely benign	8	93797184	93797184	Human	1	name
8556150	CV16405	deletion	NM_153704.6(TMEM67):c.648del (p.Val217fs)	Meckel syndrome, type 3 [RCV000001431]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters	8	93765642	93765642	Human	1	name
8556169	CV16425	single nucleotide variant	NM_153704.6(TMEM67):c.130C>T (p.Gln44Ter)	Joubert syndrome 6 [RCV000001456]\|Joubert syndrome [RCV001851547]	pathogenic	8	93755044	93755044	Human	2	name
152032248	CV1643037	single nucleotide variant	NM_153704.6(TMEM67):c.2388G>C (p.Gly796=)	Joubert syndrome [RCV002204931]	likely benign	8	93804827	93804827	Human	1	name
152040470	CV1644140	single nucleotide variant	NM_153704.6(TMEM67):c.1401A>G (p.Gln467=)	COACH syndrome 1 [RCV002480990]\|Joubert syndrome [RCV002126015]	likely benign	8	93786335	93786335	Human	2	name
152084098	CV1648016	single nucleotide variant	NM_153704.6(TMEM67):c.1690T>C (p.Leu564=)	Joubert syndrome [RCV002076757]	likely benign	8	93795424	93795424	Human	1	name
152139526	CV1660631	single nucleotide variant	NM_153704.6(TMEM67):c.2010A>T (p.Thr670=)	Joubert syndrome [RCV002120166]\|TMEM67-related disorder [RCV004543811]	likely benign	8	93797380	93797380	Human	4	name , alternate_id
152078236	CV1663782	single nucleotide variant	NM_153704.6(TMEM67):c.1983C>T (p.Ala661=)	Joubert syndrome [RCV002076023]	likely benign	8	93797353	93797353	Human	1	name
155975192	CV1885951	single nucleotide variant	NM_153704.6(TMEM67):c.223G>A (p.Gly75Arg)	Joubert syndrome [RCV003075379]	uncertain significance	8	93755137	93755137	Human	1	name
156251219	CV1887148	single nucleotide variant	NM_153704.6(TMEM67):c.1452C>T (p.Tyr484=)	Joubert syndrome [RCV003086109]	likely benign	8	93787883	93787883	Human	1	name
156194634	CV1889455	single nucleotide variant	NM_153704.6(TMEM67):c.2244C>T (p.Val748=)	Joubert syndrome [RCV003083990]	likely benign	8	93803606	93803606	Human	1	name
156357100	CV1891165	single nucleotide variant	NM_153704.6(TMEM67):c.1671A>G (p.Leu557=)	Joubert syndrome [RCV003091433]	likely benign	8	93793293	93793293	Human	1	name
156416550	CV1901442	single nucleotide variant	NM_153704.6(TMEM67):c.148G>T (p.Asp50Tyr)	COACH syndrome 1 [RCV005050742]\|Joubert syndrome [RCV002610233]	uncertain significance	8	93755062	93755062	Human	2	name
156378799	CV1903156	single nucleotide variant	NM_153704.6(TMEM67):c.1473C>G (p.Ala491=)	Joubert syndrome [RCV003093100]	likely benign	8	93787904	93787904	Human	1	name
156419006	CV1929180	single nucleotide variant	NM_153704.6(TMEM67):c.1104T>C (p.Tyr368=)	Joubert syndrome [RCV002612218]	likely benign	8	93782433	93782433	Human	1	name
156436921	CV1936742	single nucleotide variant	NM_153704.6(TMEM67):c.2877A>G (p.Leu959=)	Joubert syndrome [RCV003106445]	likely benign	8	93815417	93815417	Human	1	name
155919924	CV1991148	single nucleotide variant	NM_153704.6(TMEM67):c.217G>A (p.Ala73Thr)	Inborn genetic diseases [RCV003348875]\|Joubert syndrome [RCV002614504]	uncertain significance	8	93755131	93755131	Human	2	name
156190659	CV1994602	single nucleotide variant	NM_153704.6(TMEM67):c.1701T>C (p.Tyr567=)	Joubert syndrome [RCV002643301]	likely benign	8	93795435	93795435	Human	1	name
156172836	CV2003896	single nucleotide variant	NM_153704.6(TMEM67):c.1785T>C (p.Ser595=)	Joubert syndrome [RCV002642771]	likely benign	8	93795912	93795912	Human	1	name
156192891	CV2017871	single nucleotide variant	NM_153704.6(TMEM67):c.182C>G (p.Ser61Trp)	Joubert syndrome [RCV002700017]	uncertain significance	8	93755096	93755096	Human	1	name
156350734	CV2018794	single nucleotide variant	NM_153704.6(TMEM67):c.124C>G (p.Pro42Ala)	COACH syndrome 1 [RCV005050625]\|Joubert syndrome [RCV002720163]	uncertain significance	8	93755038	93755038	Human	2	name
155911438	CV2021652	single nucleotide variant	NM_153704.6(TMEM67):c.2508T>A (p.Ser836=)	Joubert syndrome [RCV002726835]	likely benign	8	93808908	93808908	Human	1	name
156216273	CV2028674	single nucleotide variant	NM_153704.6(TMEM67):c.167A>T (p.Asp56Val)	Joubert syndrome [RCV002711964]	uncertain significance	8	93755081	93755081	Human	1	name
156309890	CV2031472	single nucleotide variant	NM_153704.6(TMEM67):c.1530A>G (p.Ser510=)	Joubert syndrome [RCV002716471]	likely benign	8	93791274	93791274	Human	1	name
156011480	CV2041910	single nucleotide variant	NM_153704.6(TMEM67):c.2016T>C (p.Phe672=)	Joubert syndrome [RCV002780167]	likely benign\|uncertain significance	8	93797386	93797386	Human	1	name
156284833	CV2043064	single nucleotide variant	NM_153704.6(TMEM67):c.1864C>T (p.Leu622=)	Joubert syndrome [RCV002770520]	uncertain significance	8	93797137	93797137	Human	1	name
155936345	CV2045826	single nucleotide variant	NM_153704.6(TMEM67):c.2598T>G (p.Thr866=)	Joubert syndrome [RCV002751486]	likely benign	8	93809098	93809098	Human	1	name
156039336	CV2049642	single nucleotide variant	NM_153704.6(TMEM67):c.2223A>G (p.Leu741=)	Joubert syndrome [RCV002796374]	likely benign	8	93799740	93799740	Human	1	name
156326018	CV2054132	single nucleotide variant	NM_153704.6(TMEM67):c.158A>G (p.Gln53Arg)	Joubert syndrome [RCV002810399]	uncertain significance	8	93755072	93755072	Human	1	name
155999700	CV2057355	single nucleotide variant	NM_153704.6(TMEM67):c.1002T>A (p.Ala334=)	Joubert syndrome [RCV002819590]	likely benign	8	93781681	93781681	Human	1	name
156217263	CV2070721	single nucleotide variant	NM_153704.6(TMEM67):c.2103T>G (p.Val701=)	Joubert syndrome [RCV002829547]	likely benign	8	93799620	93799620	Human	1	name
10408258	CV207573	single nucleotide variant	NM_153704.6(TMEM67):c.271G>A (p.Gly91Arg)	not specified [RCV000192700]	uncertain significance	8	93755825	93755825	Human		name
10408260	CV207574	single nucleotide variant	NM_153704.6(TMEM67):c.297G>T (p.Lys99Asn)	COACH syndrome 1 [RCV004783761]\|Joubert syndrome 6 [RCV000201747]\|Joubert syndrome [RCV003765239]\|not specified [RCV000192720]	likely pathogenic\|uncertain significance	8	93755851	93755851	Human	3	name
155965514	CV2080727	single nucleotide variant	NM_153704.6(TMEM67):c.1287A>G (p.Gln429=)	Joubert syndrome [RCV002863064]	uncertain significance	8	93785377	93785377	Human	1	name
156030173	CV2093315	single nucleotide variant	NM_153704.6(TMEM67):c.2283T>C (p.Asp761=)	Joubert syndrome [RCV002885367]	likely benign	8	93803645	93803645	Human	1	name
156232831	CV2093899	single nucleotide variant	NM_153704.6(TMEM67):c.157C>T (p.Gln53Ter)	Joubert syndrome [RCV002894619]	pathogenic	8	93755071	93755071	Human	1	name
156043930	CV2094260	single nucleotide variant	NM_153704.6(TMEM67):c.2427T>G (p.Leu809=)	Joubert syndrome [RCV002885920]\|TMEM67-related disorder [RCV004733536]	likely benign	8	93804866	93804866	Human	4	name , alternate_id
156128935	CV2100757	single nucleotide variant	NM_153704.6(TMEM67):c.1312C>T (p.Leu438=)	Joubert syndrome [RCV002889866]	likely benign	8	93786246	93786246	Human	1	name
155938311	CV2110493	single nucleotide variant	NM_153704.6(TMEM67):c.2226C>A (p.Ala742=)	Joubert syndrome [RCV002904292]	likely benign	8	93799743	93799743	Human	1	name
156314748	CV2120265	single nucleotide variant	NM_153704.6(TMEM67):c.2688A>C (p.Ile896=)	Joubert syndrome [RCV002962829]	likely benign	8	93809811	93809811	Human	1	name
156378004	CV2120822	single nucleotide variant	NM_153704.6(TMEM67):c.2619A>G (p.Ala873=)	Joubert syndrome [RCV002942907]	likely benign	8	93809119	93809119	Human	1	name
156301041	CV2129497	single nucleotide variant	NM_153704.6(TMEM67):c.159G>C (p.Gln53His)	Joubert syndrome [RCV002962145]	uncertain significance	8	93755073	93755073	Human	1	name
10448742	CV214270	single nucleotide variant	NM_153704.6(TMEM67):c.244C>T (p.Pro82Ser)	Joubert syndrome 6 [RCV000201641]\|not specified [RCV003330578]	pathogenic\|likely pathogenic\|uncertain significance	8	93755798	93755798	Human	1	name
10448700	CV214271	single nucleotide variant	NM_153704.6(TMEM67):c.245C>G (p.Pro82Arg)	Joubert syndrome 6 [RCV000201553]\|Joubert syndrome [RCV003765306]\|not provided [RCV000435911]	pathogenic\|conflicting interpretations of pathogenicity	8	93755799	93755799	Human	2	name
156122253	CV2148025	single nucleotide variant	NM_153704.6(TMEM67):c.1143T>C (p.Pro381=)	Joubert syndrome [RCV003003028]	likely benign	8	93785233	93785233	Human	1	name
155906695	CV2148185	single nucleotide variant	NM_153704.6(TMEM67):c.2532C>T (p.Asp844=)	Joubert syndrome [RCV003011965]	likely benign\|uncertain significance	8	93808932	93808932	Human	1	name
155990494	CV2151251	single nucleotide variant	NM_153704.6(TMEM67):c.2856G>A (p.Leu952=)	Joubert syndrome [RCV003016804]	likely benign	8	93815396	93815396	Human	1	name
155954319	CV2161550	single nucleotide variant	NM_153704.6(TMEM67):c.1620T>G (p.Leu540=)	Joubert syndrome [RCV003032600]	likely benign	8	93793242	93793242	Human	1	name
156356827	CV2166018	single nucleotide variant	NM_153704.6(TMEM67):c.2947T>C (p.Leu983=)	Joubert syndrome [RCV003031289]	likely benign	8	93816411	93816411	Human	1	name
156364778	CV2167152	single nucleotide variant	NM_153704.6(TMEM67):c.2898A>G (p.Leu966=)	Joubert syndrome [RCV003031808]	likely benign	8	93815438	93815438	Human	1	name
156213717	CV2176453	single nucleotide variant	NM_153704.6(TMEM67):c.1377A>G (p.Pro459=)	Joubert syndrome [RCV003024909]	likely benign	8	93786311	93786311	Human	1	name
156241023	CV2177124	single nucleotide variant	NM_153704.6(TMEM67):c.1749T>C (p.Gly583=)	Joubert syndrome [RCV003043443]	likely benign	8	93795483	93795483	Human	1	name
156294857	CV2183246	single nucleotide variant	NM_153704.6(TMEM67):c.1830C>T (p.Val610=)	Joubert syndrome [RCV003027827]	likely benign	8	93795957	93795957	Human	1	name
155960709	CV2183451	single nucleotide variant	NM_153704.6(TMEM67):c.145T>A (p.Cys49Ser)	Joubert syndrome [RCV003032923]	uncertain significance	8	93755059	93755059	Human	1	name
156147890	CV2321608	single nucleotide variant	NM_153704.6(TMEM67):c.191C>T (p.Pro64Leu)	Inborn genetic diseases [RCV002954473]	uncertain significance	8	93755105	93755105	Human	1	name
11350521	CV243906	single nucleotide variant	NM_153704.6(TMEM67):c.2241G>A (p.Gln747=)	Joubert syndrome 6 [RCV001163249]\|Joubert syndrome [RCV001087450]\|Kidney disorder [RCV002294093]\|Meckel syndrome, type 3 [RCV001163248]\|Nephronophthisis 11 [RCV001163250]\|Nephronophthisis [RCV000234818]\|TMEM67-related disorder [RCV004732810]\|not provided [RCV000 ... (more) 723708]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	8	93799758	93799758	Human	12	name , alternate_id
11549081	CV253207	single nucleotide variant	NM_153704.6(TMEM67):c.2010A>G (p.Thr670=)	Joubert syndrome [RCV000862586]\|not provided [RCV001568708]\|not specified [RCV000249953]	benign\|likely benign	8	93797380	93797380	Human	1	name
11545248	CV253208	single nucleotide variant	NM_153704.6(TMEM67):c.2199T>C (p.Tyr733=)	Joubert syndrome [RCV001404962]\|not specified [RCV000244876]	likely benign	8	93799716	93799716	Human	1	name
11547382	CV253209	single nucleotide variant	NM_153704.6(TMEM67):c.2448G>A (p.Leu816=)	Joubert syndrome 6 [RCV000314366]\|Joubert syndrome [RCV001455464]\|Meckel syndrome, type 3 [RCV000344224]\|Nephronophthisis 11 [RCV000395284]\|not specified [RCV000247688]	likely benign\|uncertain significance	8	93808848	93808848	Human	4	name
11544512	CV253212	single nucleotide variant	NM_153704.6(TMEM67):c.2952A>G (p.Ala984=)	Joubert syndrome 6 [RCV001168637]\|Joubert syndrome [RCV000549204]\|Meckel syndrome, type 3 [RCV001168639]\|Nephronophthisis 11 [RCV001168638]\|not provided [RCV001651278]\|not specified [RCV000243894]	benign\|likely benign\|uncertain significance	8	93816416	93816416	Human	4	name
11640750	CV271429	single nucleotide variant	NM_153704.6(TMEM67):c.107C>T (p.Ala36Val)	Joubert syndrome [RCV001501683]\|TMEM67-related disorder [RCV004732826]\|not provided [RCV000344452]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	93755021	93755021	Human	4	name , alternate_id
401924062	CV2821175	single nucleotide variant	NM_153704.6(TMEM67):c.1392T>G (p.Val464=)	not provided [RCV003435556]	likely benign	8	93786326	93786326	Human		name
401924064	CV2821176	single nucleotide variant	NM_153704.6(TMEM67):c.2955C>T (p.Ser985=)	not provided [RCV003435557]	likely benign	8	93816419	93816419	Human		name
11611122	CV306015	single nucleotide variant	NM_153704.6(TMEM67):c.2928T>C (p.Asn976=)	Joubert syndrome 6 [RCV000293650]\|Joubert syndrome [RCV002058749]\|Meckel syndrome, type 3 [RCV000348602]\|Nephronophthisis 11 [RCV000390789]\|TMEM67-related disorder [RCV004725191]	likely benign\|uncertain significance	8	93816392	93816392	Human	7	name , alternate_id
405008079	CV3083155	single nucleotide variant	NM_153704.6(TMEM67):c.2793G>A (p.Leu931=)	Joubert syndrome [RCV003784102]	likely benign	8	93815333	93815333	Human	1	name
405011541	CV3083445	single nucleotide variant	NM_153704.6(TMEM67):c.1740G>A (p.Val580=)	Joubert syndrome [RCV003784392]	likely benign	8	93795474	93795474	Human	1	name
404986513	CV3083649	single nucleotide variant	NM_153704.6(TMEM67):c.1621T>C (p.Leu541=)	Joubert syndrome [RCV003782002]	likely benign	8	93793243	93793243	Human	1	name
404988140	CV3083988	single nucleotide variant	NM_153704.6(TMEM67):c.2142T>C (p.Ser714=)	Joubert syndrome [RCV003782180]	likely benign	8	93799659	93799659	Human	1	name
404988304	CV3084003	single nucleotide variant	NM_153704.6(TMEM67):c.2961A>G (p.Thr987=)	Joubert syndrome [RCV003782195]	likely benign	8	93816425	93816425	Human	1	name
404999192	CV3085779	single nucleotide variant	NM_153704.6(TMEM67):c.2962T>C (p.Leu988=)	Joubert syndrome [RCV003783149]	likely benign	8	93816426	93816426	Human	1	name
402509789	CV3086997	single nucleotide variant	NM_153704.6(TMEM67):c.2796T>C (p.Tyr932=)	Joubert syndrome [RCV003789507]	likely benign	8	93815336	93815336	Human	1	name
402512335	CV3087383	single nucleotide variant	NM_153704.6(TMEM67):c.2184C>T (p.Ser728=)	Joubert syndrome [RCV003789734]	likely benign	8	93799701	93799701	Human	1	name
405046360	CV3088192	single nucleotide variant	NM_153704.6(TMEM67):c.2835G>C (p.Leu945=)	Joubert syndrome [RCV003797704]	likely benign	8	93815375	93815375	Human	1	name
402504317	CV3088725	single nucleotide variant	NM_153704.6(TMEM67):c.1599G>A (p.Gly533=)	Joubert syndrome [RCV003779434]	likely benign	8	93793221	93793221	Human	1	name
402510187	CV3089198	single nucleotide variant	NM_153704.6(TMEM67):c.1299T>G (p.Ser433=)	Joubert syndrome [RCV003780230]	likely benign	8	93786233	93786233	Human	1	name
402500675	CV3089621	single nucleotide variant	NM_153704.6(TMEM67):c.2934A>G (p.Val978=)	Joubert syndrome [RCV003788544]	likely benign	8	93816398	93816398	Human	1	name
402506825	CV3090562	single nucleotide variant	NM_153704.6(TMEM67):c.1239G>T (p.Val413=)	Joubert syndrome [RCV003789176]	likely benign	8	93785329	93785329	Human	1	name
402489491	CV3090909	single nucleotide variant	NM_153704.6(TMEM67):c.2484T>A (p.Gly828=)	Joubert syndrome [RCV003787411]	likely benign	8	93808884	93808884	Human	1	name
405017917	CV3091648	single nucleotide variant	NM_153704.6(TMEM67):c.296A>G (p.Lys99Arg)	Joubert syndrome [RCV003795315]	likely pathogenic	8	93755850	93755850	Human	1	name
405031709	CV3092682	single nucleotide variant	NM_153704.6(TMEM67):c.2619A>T (p.Ala873=)	Joubert syndrome [RCV003786193]	likely benign	8	93809119	93809119	Human	1	name
402498077	CV3092840	single nucleotide variant	NM_153704.6(TMEM67):c.1830C>G (p.Val610=)	Joubert syndrome [RCV003788304]	likely benign	8	93795957	93795957	Human	1	name
405036011	CV3093204	single nucleotide variant	NM_153704.6(TMEM67):c.1263A>G (p.Gln421=)	Joubert syndrome [RCV003786555]\|TMEM67-related disorder [RCV004733636]	likely benign	8	93785353	93785353	Human	4	name , alternate_id
402482512	CV3093242	single nucleotide variant	NM_153704.6(TMEM67):c.2604G>A (p.Glu868=)	Joubert syndrome [RCV003786593]	likely benign	8	93809104	93809104	Human	1	name
405018176	CV3094366	single nucleotide variant	NM_153704.6(TMEM67):c.1422T>C (p.Leu474=)	Joubert syndrome [RCV003785056]	likely benign	8	93787853	93787853	Human	1	name
405006992	CV3096137	single nucleotide variant	NM_153704.6(TMEM67):c.2115G>A (p.Lys705=)	Joubert syndrome [RCV003794287]	likely benign	8	93799632	93799632	Human	1	name
405010519	CV3096638	single nucleotide variant	NM_153704.6(TMEM67):c.1641G>A (p.Lys547=)	Joubert syndrome [RCV003794627]	likely benign	8	93793263	93793263	Human	1	name
405044241	CV3097171	single nucleotide variant	NM_153704.6(TMEM67):c.233G>T (p.Cys78Phe)	Joubert syndrome [RCV003807751]	likely pathogenic	8	93755787	93755787	Human	1	name
405025316	CV3097756	single nucleotide variant	NM_153704.6(TMEM67):c.2883C>T (p.Ser961=)	Joubert syndrome [RCV003806217]	likely benign	8	93815423	93815423	Human	1	name
405026666	CV3098032	single nucleotide variant	NM_153704.6(TMEM67):c.2769A>G (p.Glu923=)	Joubert syndrome [RCV003806325]	likely benign	8	93815309	93815309	Human	1	name
405034212	CV3098798	single nucleotide variant	NM_153704.6(TMEM67):c.2388G>T (p.Gly796=)	Joubert syndrome [RCV003806924]	likely benign	8	93804827	93804827	Human	1	name
404982405	CV3100091	single nucleotide variant	NM_153704.6(TMEM67):c.1785T>G (p.Ser595=)	Joubert syndrome [RCV003791758]	likely benign	8	93795912	93795912	Human	1	name
405079641	CV3100505	duplication	NM_153704.6(TMEM67):c.322dup (p.Thr108fs)	Joubert syndrome [RCV003800058]	pathogenic	8	93758491	93758492	Human	1	name
405016752	CV3100682	single nucleotide variant	NM_153704.6(TMEM67):c.2505T>A (p.Ile835=)	Joubert syndrome [RCV003805430]	likely benign	8	93808905	93808905	Human	1	name
405020176	CV3101003	single nucleotide variant	NM_153704.6(TMEM67):c.1506C>T (p.Ser502=)	Joubert syndrome [RCV003805751]	likely benign	8	93787937	93787937	Human	1	name
405175514	CV3101070	single nucleotide variant	NM_153704.6(TMEM67):c.2625T>C (p.His875=)	Joubert syndrome [RCV003803457]	likely benign	8	93809125	93809125	Human	1	name
405022120	CV3101388	single nucleotide variant	NM_153704.6(TMEM67):c.2301T>G (p.Val767=)	Joubert syndrome [RCV003805967]	likely benign	8	93803663	93803663	Human	1	name
405022946	CV3101461	single nucleotide variant	NM_153704.6(TMEM67):c.1977A>C (p.Arg659=)	Joubert syndrome [RCV003806040]	likely benign	8	93797347	93797347	Human	1	name
405180330	CV3101749	single nucleotide variant	NM_153704.6(TMEM67):c.2247G>C (p.Val749=)	Joubert syndrome [RCV003803962]	likely benign	8	93803609	93803609	Human	1	name
405152968	CV3101971	single nucleotide variant	NM_153704.6(TMEM67):c.1371T>C (p.Thr457=)	Joubert syndrome [RCV003801575]	likely benign	8	93786305	93786305	Human	1	name
405002950	CV3102121	single nucleotide variant	NM_153704.6(TMEM67):c.2166C>T (p.Ser722=)	Joubert syndrome [RCV003804167]	likely benign	8	93799683	93799683	Human	1	name
405058365	CV3102477	single nucleotide variant	NM_153704.6(TMEM67):c.2538T>C (p.Ile846=)	Joubert syndrome [RCV003798619]	likely benign	8	93808938	93808938	Human	1	name
402524765	CV3102618	single nucleotide variant	NM_153704.6(TMEM67):c.2475C>T (p.Asn825=)	Joubert syndrome [RCV003790712]	likely benign	8	93808875	93808875	Human	1	name
405060454	CV3102786	single nucleotide variant	NM_153704.6(TMEM67):c.2202A>G (p.Ala734=)	Joubert syndrome [RCV003798776]	likely benign	8	93799719	93799719	Human	1	name
405062194	CV3102922	single nucleotide variant	NM_153704.6(TMEM67):c.1026T>C (p.Asn342=)	Joubert syndrome [RCV003798913]	likely benign	8	93781705	93781705	Human	1	name
405062705	CV3102962	single nucleotide variant	NM_153704.6(TMEM67):c.1398T>G (p.Thr466=)	Joubert syndrome [RCV003798953]	likely benign	8	93786332	93786332	Human	1	name
405063574	CV3103033	single nucleotide variant	NM_153704.6(TMEM67):c.1107A>G (p.Ser369=)	Joubert syndrome [RCV003799024]	likely benign	8	93782436	93782436	Human	1	name
405169439	CV3104230	single nucleotide variant	NM_153704.6(TMEM67):c.2445T>C (p.Asn815=)	Joubert syndrome [RCV003802907]	likely benign	8	93808845	93808845	Human	1	name
405085869	CV3104545	single nucleotide variant	NM_153704.6(TMEM67):c.2181T>C (p.Tyr727=)	Joubert syndrome [RCV003800603]	likely benign	8	93799698	93799698	Human	1	name
405173067	CV3104722	single nucleotide variant	NM_153704.6(TMEM67):c.1269T>C (p.Asn423=)	Joubert syndrome [RCV003803220]	likely benign	8	93785359	93785359	Human	1	name
405089823	CV3105013	single nucleotide variant	NM_153704.6(TMEM67):c.2269A>C (p.Arg757=)	Joubert syndrome [RCV003800896]	likely benign	8	93803631	93803631	Human	1	name
405093908	CV3105493	single nucleotide variant	NM_153704.6(TMEM67):c.2175T>A (p.Ala725=)	Joubert syndrome [RCV003801210]	likely benign	8	93799692	93799692	Human	1	name
405151120	CV3105719	single nucleotide variant	NM_153704.6(TMEM67):c.1101T>G (p.Ala367=)	Joubert syndrome [RCV003801436]	likely benign	8	93782430	93782430	Human	1	name
405087693	CV3108038	single nucleotide variant	NM_153704.6(TMEM67):c.1386T>A (p.Ile462=)	Joubert syndrome [RCV003800736]	likely benign	8	93786320	93786320	Human	1	name
405088591	CV3108105	single nucleotide variant	NM_153704.6(TMEM67):c.2577A>G (p.Leu859=)	Joubert syndrome [RCV003800803]	likely benign	8	93809077	93809077	Human	1	name
405058013	CV3108210	single nucleotide variant	NM_153704.6(TMEM67):c.1842A>G (p.Gly614=)	Joubert syndrome [RCV003808788]	likely benign	8	93795969	93795969	Human	1	name
405034892	CV3108547	single nucleotide variant	NM_153704.6(TMEM67):c.2706T>C (p.Leu902=)	Joubert syndrome [RCV003807005]	likely benign	8	93809829	93809829	Human	1	name
405064216	CV3108859	single nucleotide variant	NM_153704.6(TMEM67):c.1101T>C (p.Ala367=)	Joubert syndrome [RCV003809269]	likely benign	8	93782430	93782430	Human	1	name
405065819	CV3108975	single nucleotide variant	NM_153704.6(TMEM67):c.2295G>A (p.Gln765=)	Joubert syndrome [RCV003809385]	likely benign	8	93803657	93803657	Human	1	name
405008746	CV3109004	single nucleotide variant	NM_153704.6(TMEM67):c.1926G>A (p.Glu642=)	Joubert syndrome [RCV003804671]	likely benign	8	93797199	93797199	Human	1	name
405009332	CV3109057	single nucleotide variant	NM_153704.6(TMEM67):c.2268G>A (p.Glu756=)	Joubert syndrome [RCV003804724]	likely benign	8	93803630	93803630	Human	1	name
405155871	CV3109270	single nucleotide variant	NM_153704.6(TMEM67):c.2673A>G (p.Glu891=)	Joubert syndrome [RCV003801793]	likely benign	8	93809796	93809796	Human	1	name
405007358	CV3109615	single nucleotide variant	NM_153704.6(TMEM67):c.1605T>C (p.Ala535=)	Joubert syndrome [RCV003804579]	likely benign	8	93793227	93793227	Human	1	name
405155910	CV3110412	single nucleotide variant	NM_153704.6(TMEM67):c.1239G>C (p.Val413=)	Joubert syndrome [RCV003817933]	likely benign	8	93785329	93785329	Human	1	name
405156973	CV3110527	single nucleotide variant	NM_153704.6(TMEM67):c.2160A>G (p.Pro720=)	Joubert syndrome [RCV003818048]	likely benign	8	93799677	93799677	Human	1	name
405068282	CV3111025	single nucleotide variant	NM_153704.6(TMEM67):c.2343C>T (p.Ser781=)	Joubert syndrome [RCV003809529]	likely benign	8	93804782	93804782	Human	1	name
405069530	CV3111124	single nucleotide variant	NM_153704.6(TMEM67):c.2772T>C (p.Gly924=)	Joubert syndrome [RCV003809628]	likely benign	8	93815312	93815312	Human	1	name
405072885	CV3111525	single nucleotide variant	NM_153704.6(TMEM67):c.1669T>C (p.Leu557=)	Joubert syndrome [RCV003809865]	likely benign	8	93793291	93793291	Human	1	name
405126381	CV3111939	single nucleotide variant	NM_153704.6(TMEM67):c.2214T>A (p.Ala738=)	Joubert syndrome [RCV003815412]	likely benign	8	93799731	93799731	Human	1	name
405108114	CV3112246	single nucleotide variant	NM_153704.6(TMEM67):c.2565T>C (p.Gly855=)	Joubert syndrome [RCV003813089]	likely benign	8	93809065	93809065	Human	1	name
405039509	CV3112735	single nucleotide variant	NM_153704.6(TMEM67):c.2343C>G (p.Ser781=)	Joubert syndrome [RCV003807402]	likely benign	8	93804782	93804782	Human	1	name
405039581	CV3112741	single nucleotide variant	NM_153704.6(TMEM67):c.2442A>G (p.Glu814=)	Joubert syndrome [RCV003807408]	likely benign	8	93808842	93808842	Human	1	name
405040504	CV3112792	single nucleotide variant	NM_153704.6(TMEM67):c.1600C>T (p.Leu534=)	Joubert syndrome [RCV003807459]	likely benign	8	93793222	93793222	Human	1	name
405105498	CV3113243	single nucleotide variant	NM_153704.6(TMEM67):c.2157C>T (p.Asn719=)	Joubert syndrome [RCV003812534]	likely benign	8	93799674	93799674	Human	1	name
405013099	CV3114220	single nucleotide variant	NM_153704.6(TMEM67):c.1230T>A (p.Ile410=)	Joubert syndrome [RCV003805074]	likely benign	8	93785320	93785320	Human	1	name
405013773	CV3114283	single nucleotide variant	NM_153704.6(TMEM67):c.2829T>C (p.Asp943=)	Joubert syndrome [RCV003805137]	likely benign	8	93815369	93815369	Human	1	name
405013857	CV3114291	single nucleotide variant	NM_153704.6(TMEM67):c.2988A>G (p.Ter996=)	Joubert syndrome [RCV003805145]	likely benign	8	93816452	93816452	Human	1	name
405079496	CV3114738	single nucleotide variant	NM_153704.6(TMEM67):c.2544G>A (p.Glu848=)	Joubert syndrome [RCV003810301]	likely benign	8	93808944	93808944	Human	1	name
11600011	CV315373	single nucleotide variant	NM_153704.6(TMEM67):c.1446C>T (p.Asn482=)	Joubert syndrome 6 [RCV000370373]\|Joubert syndrome [RCV000872573]\|Meckel syndrome, type 3 [RCV000306665]\|Nephronophthisis 11 [RCV000270206]\|TMEM67-related disorder [RCV004732858]	likely benign\|uncertain significance	8	93787877	93787877	Human	7	name , alternate_id
11610569	CV315516	single nucleotide variant	NM_153704.6(TMEM67):c.137C>T (p.Pro46Leu)	Joubert syndrome 6 [RCV000326350]\|Joubert syndrome [RCV002524577]\|Meckel syndrome, type 3 [RCV000268976]\|Nephronophthisis 11 [RCV000383394]\|TMEM67-related disorder [RCV004732857]	uncertain significance	8	93755051	93755051	Human	7	name , alternate_id
405273793	CV3198251	single nucleotide variant	NM_153704.6(TMEM67):c.2139T>G (p.Ser713=)	TMEM67-related disorder [RCV004534588]	likely benign	8	93799656	93799656	Human		name , trait , alternate_id
405706240	CV3225222	single nucleotide variant	NM_153704.6(TMEM67):c.232T>G (p.Cys78Gly)	COACH syndrome 1 [RCV003990276]	uncertain significance	8	93755786	93755786	Human	1	name
405771980	CV3346677	single nucleotide variant	NM_153704.6(TMEM67):c.139G>A (p.Glu47Lys)	Inborn genetic diseases [RCV004470448]	uncertain significance	8	93755053	93755053	Human	1	name
405771989	CV3346678	single nucleotide variant	NM_153704.6(TMEM67):c.176C>T (p.Ala59Val)	Inborn genetic diseases [RCV004470449]	uncertain significance	8	93755090	93755090	Human	1	name
407574302	CV3498651	single nucleotide variant	NM_153704.6(TMEM67):c.274G>A (p.Gly92Arg)	Joubert syndrome and related disorders [RCV004703127]	pathogenic	8	93755828	93755828	Human	1	name
596945318	CV3547830	single nucleotide variant	NM_153704.6(TMEM67):c.2547A>G (p.Thr849=)	not provided [RCV004809161]	likely benign	8	93808947	93808947	Human		name
596947619	CV3549178	single nucleotide variant	NM_153704.6(TMEM67):c.2736A>G (p.Glu912=)	not provided [RCV004811502]	likely benign	8	93809859	93809859	Human		name
12839801	CV370398	single nucleotide variant	NM_153704.6(TMEM67):c.1351C>A (p.Arg451=)	not specified [RCV000429502]	likely benign	8	93786285	93786285	Human		name
597736295	CV3719201	single nucleotide variant	NM_153704.6(TMEM67):c.103C>T (p.Gln35Ter)	COACH syndrome 1 [RCV005051714]	likely pathogenic	8	93755017	93755017	Human	1	name
597666970	CV3719202	single nucleotide variant	NM_153704.6(TMEM67):c.190C>T (p.Pro64Ser)	COACH syndrome 1 [RCV005043451]	uncertain significance	8	93755104	93755104	Human	1	name
597667012	CV3719208	deletion	NM_153704.6(TMEM67):c.538del (p.Thr180fs)	COACH syndrome 1 [RCV005043456]	likely pathogenic	8	93765437	93765437	Human	1	name
597667153	CV3719231	single nucleotide variant	NM_153704.6(TMEM67):c.1737A>G (p.Thr579=)	COACH syndrome 1 [RCV005043474]	uncertain significance	8	93795471	93795471	Human	1	name
597832786	CV3734745	single nucleotide variant	NM_153704.6(TMEM67):c.242T>C (p.Leu81Pro)	Meckel syndrome, type 3 [RCV005054119]	likely pathogenic	8	93755796	93755796	Human	1	name
597842325	CV3865038	single nucleotide variant	NM_153704.6(TMEM67):c.2931A>G (p.Thr977=)	Joubert syndrome [RCV005211486]	likely benign	8	93816395	93816395	Human	1	name
597896176	CV3865623	single nucleotide variant	NM_153704.6(TMEM67):c.1572A>G (p.Thr524=)	Joubert syndrome [RCV005219601]	likely benign	8	93791316	93791316	Human	1	name
597882861	CV3865948	single nucleotide variant	NM_153704.6(TMEM67):c.1041A>G (p.Gln347=)	Joubert syndrome [RCV005217613]	likely benign	8	93781720	93781720	Human	1	name
597897529	CV3866182	single nucleotide variant	NM_153704.6(TMEM67):c.1032C>T (p.Leu344=)	Joubert syndrome [RCV005219799]	likely benign	8	93781711	93781711	Human	1	name
597881535	CV3869142	single nucleotide variant	NM_153704.6(TMEM67):c.1227T>C (p.Tyr409=)	Joubert syndrome [RCV005217398]	likely benign	8	93785317	93785317	Human	1	name
597867528	CV3869306	single nucleotide variant	NM_153704.6(TMEM67):c.1941G>A (p.Lys647=)	Joubert syndrome [RCV005215236]	likely benign	8	93797214	93797214	Human	1	name
597871288	CV3870043	single nucleotide variant	NM_153704.6(TMEM67):c.1609T>C (p.Leu537=)	Joubert syndrome [RCV005215773]	likely benign	8	93793231	93793231	Human	1	name
597876233	CV3871417	single nucleotide variant	NM_153704.6(TMEM67):c.1392T>C (p.Val464=)	Joubert syndrome [RCV005216632]	likely benign	8	93786326	93786326	Human	1	name
597890618	CV3871621	single nucleotide variant	NM_153704.6(TMEM67):c.2446T>C (p.Leu816=)	Joubert syndrome [RCV005218789]	likely benign	8	93808846	93808846	Human	1	name
597879874	CV3872107	single nucleotide variant	NM_153704.6(TMEM67):c.2508T>G (p.Ser836=)	Joubert syndrome [RCV005217159]	likely benign	8	93808908	93808908	Human	1	name
597836070	CV3874339	single nucleotide variant	NM_153704.6(TMEM67):c.1591T>C (p.Leu531=)	Joubert syndrome [RCV005210259]	likely benign	8	93793213	93793213	Human	1	name
597862219	CV3875183	single nucleotide variant	NM_153704.6(TMEM67):c.157C>G (p.Gln53Glu)	Joubert syndrome [RCV005214360]	uncertain significance	8	93755071	93755071	Human	1	name
597862352	CV3875204	single nucleotide variant	NM_153704.6(TMEM67):c.1653G>T (p.Gly551=)	Joubert syndrome [RCV005214381]	likely benign	8	93793275	93793275	Human	1	name
597836636	CV3875596	single nucleotide variant	NM_153704.6(TMEM67):c.1539T>C (p.Tyr513=)	Joubert syndrome [RCV005225641]	likely benign	8	93791283	93791283	Human	1	name
597898024	CV3875982	single nucleotide variant	NM_153704.6(TMEM67):c.2709A>G (p.Glu903=)	Joubert syndrome [RCV005219872]	likely benign	8	93809832	93809832	Human	1	name
597899230	CV3876178	single nucleotide variant	NM_153704.6(TMEM67):c.1914T>C (p.Phe638=)	Joubert syndrome [RCV005220068]	likely benign	8	93797187	93797187	Human	1	name
597851195	CV3877057	single nucleotide variant	NM_153704.6(TMEM67):c.1363T>C (p.Leu455=)	Joubert syndrome [RCV005228285]	likely benign	8	93786297	93786297	Human	1	name
12889468	CV396651	single nucleotide variant	NM_153704.6(TMEM67):c.224G>A (p.Gly75Glu)	COACH syndrome 1 [RCV002475886]\|Inborn genetic diseases [RCV002525618]\|Joubert syndrome [RCV000472800]	uncertain significance	8	93755778	93755778	Human	3	name
12882053	CV396747	indel	NM_153704.6(TMEM67):c.2314_2322+4delinsGG	Joubert syndrome [RCV000458928]	pathogenic	8	93803676	93803688	Human		name
13521314	CV495385	deletion	NM_153704.6(TMEM67):c.385del (p.Cys129fs)	not provided [RCV000599352]	pathogenic	8	93758555	93758555	Human		name
13794738	CV552127	single nucleotide variant	NM_153704.6(TMEM67):c.233G>A (p.Cys78Tyr)	Joubert syndrome [RCV003768037]\|Meckel syndrome, type 3 [RCV000680128]	pathogenic\|uncertain significance	8	93755787	93755787	Human	2	name
13831914	CV582411	single nucleotide variant	NM_153704.6(TMEM67):c.185G>A (p.Cys62Tyr)	not provided [RCV000722599]	uncertain significance	8	93755099	93755099	Human		name
13833612	CV584847	single nucleotide variant	NM_153704.6(TMEM67):c.226A>G (p.Thr76Ala)	Joubert syndrome [RCV002535098]\|not provided [RCV000728917]	uncertain significance	8	93755780	93755780	Human	1	name
15123707	CV684028	single nucleotide variant	NM_153704.6(TMEM67):c.2175T>C (p.Ala725=)	Joubert syndrome [RCV001434414]\|TMEM67-related disorder [RCV004538189]	likely benign	8	93799692	93799692	Human	4	name , alternate_id
15103579	CV687325	single nucleotide variant	NM_153704.6(TMEM67):c.1734C>T (p.Ile578=)	COACH syndrome 1 [RCV005049718]\|Joubert syndrome [RCV001398330]	likely benign\|uncertain significance	8	93795468	93795468	Human	2	name
8617496	CV71408	single nucleotide variant	NM_153704.6(TMEM67):c.161A>G (p.Tyr54Cys)	Meckel syndrome, type 3 [RCV000050182]	likely pathogenic	8	93755075	93755075	Human	1	name
8617511	CV71423	deletion	NM_153704.6(TMEM67):c.579del (p.Gly195fs)	Joubert syndrome [RCV001853071]\|Meckel syndrome, type 3 [RCV000050197]\|TMEM67-related disorder [RCV004732644]	pathogenic\|likely pathogenic	8	93765574	93765574	Human	5	name , alternate_id
15196665	CV751264	single nucleotide variant	NM_153704.6(TMEM67):c.1866A>G (p.Leu622=)	not provided [RCV000911761]	likely benign	8	93797139	93797139	Human		name
21069809	CV796196	single nucleotide variant	NM_153704.6(TMEM67):c.2049G>A (p.Val683=)	not provided [RCV000999056]	uncertain significance	8	93797419	93797419	Human		name
28869290	CV900150	single nucleotide variant	NM_153704.6(TMEM67):c.269A>G (p.Asn90Ser)	Joubert syndrome 6 [RCV001161503]\|Joubert syndrome [RCV002558540]\|Meckel syndrome, type 3 [RCV001163025]\|Nephronophthisis 11 [RCV001163024]	uncertain significance	8	93755823	93755823	Human	4	name
126734527	CV1020521	single nucleotide variant	NM_153704.6(TMEM67):c.679G>C (p.Ala227Pro)	COACH syndrome 1 [RCV001334628]\|COACH syndrome 1 [RCV002499658]\|Joubert syndrome [RCV001865813]	uncertain significance	8	93772616	93772616	Human	2	name
127274364	CV1065670	single nucleotide variant	NM_153704.6(TMEM67):c.520G>C (p.Glu174Gln)	Nephronophthisis 11 [RCV001391146]	uncertain significance	8	93765419	93765419	Human	1	name
150467141	CV1240527	deletion	NM_153704.6(TMEM67):c.2322+208_2322+210del	not provided [RCV001650288]	benign	8	93803880	93803882	Human		name
151727945	CV1242040	deletion	NM_153704.6(TMEM67):c.2306del (p.Leu769fs)	Meckel syndrome, type 3 [RCV001844406]	pathogenic	8	93803666	93803666	Human	1	name
150485678	CV1262145	deletion	NM_153704.6(TMEM67):c.2241+165_2241+167del	not provided [RCV001686836]	benign	8	93799905	93799907	Human		name
150555592	CV1304741	single nucleotide variant	NM_153704.6(TMEM67):c.848C>T (p.Thr283Ile)	COACH syndrome 1 [RCV005040364]\|Inborn genetic diseases [RCV002540557]\|Joubert syndrome [RCV001868630]\|not provided [RCV001772989]	uncertain significance	8	93780726	93780726	Human	3	name
150555627	CV1304779	single nucleotide variant	NM_153704.6(TMEM67):c.322A>G (p.Thr108Ala)	not provided [RCV001773027]	uncertain significance	8	93758492	93758492	Human		name
8591192	CV131838	single nucleotide variant	NM_153704.6(TMEM67):c.748G>A (p.Gly250Arg)	COACH syndrome 1 [RCV005042203]\|Joubert syndrome [RCV002514565]\|Meckel-Gruber syndrome [RCV000114249]	pathogenic\|likely pathogenic	8	93780626	93780626	Human	3	name
8591193	CV131839	single nucleotide variant	NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn)	COACH syndrome 1 [RCV002490759]\|Joubert syndrome [RCV000547961]\|Meckel syndrome, type 3 [RCV001165121]\|not provided [RCV001572851]\|not specified [RCV000114250]	benign\|likely benign\|conflicting interpretations of pathogenicity	8	93780659	93780659	Human	3	name
151355657	CV1328724	single nucleotide variant	NM_153704.6(TMEM67):c.758G>A (p.Cys253Tyr)	not provided [RCV001820729]	likely pathogenic	8	93780636	93780636	Human		name
151781652	CV1338207	single nucleotide variant	NM_153704.6(TMEM67):c.499G>A (p.Gly167Arg)	Joubert syndrome [RCV001884735]	uncertain significance	8	93763934	93763934	Human	1	name
151711322	CV1340903	single nucleotide variant	NM_153704.6(TMEM67):c.641A>G (p.Tyr214Cys)	COACH syndrome 1 [RCV002503668]\|Joubert syndrome [RCV002002129]\|not specified [RCV004587261]	uncertain significance	8	93765636	93765636	Human	2	name
151718757	CV1356102	single nucleotide variant	NM_153704.6(TMEM67):c.731C>T (p.Thr244Ile)	Joubert syndrome [RCV002030925]	uncertain significance	8	93780609	93780609	Human	1	name
151815035	CV1362157	single nucleotide variant	NM_153704.6(TMEM67):c.799G>A (p.Ala267Thr)	Joubert syndrome [RCV001950540]	uncertain significance	8	93780677	93780677	Human	1	name
151786753	CV1370750	single nucleotide variant	NM_153704.6(TMEM67):c.454C>T (p.Leu152Phe)	Joubert syndrome [RCV001894510]	uncertain significance	8	93763889	93763889	Human	1	name
151816120	CV1375440	single nucleotide variant	NM_153704.6(TMEM67):c.820A>C (p.Ile274Leu)	Inborn genetic diseases [RCV004043196]\|Joubert syndrome [RCV001953112]	uncertain significance	8	93780698	93780698	Human	2	name
151715262	CV1382487	single nucleotide variant	NM_153704.6(TMEM67):c.392T>C (p.Ile131Thr)	Joubert syndrome [RCV002019339]	uncertain significance	8	93758562	93758562	Human	1	name
151725488	CV1395867	single nucleotide variant	NM_153704.6(TMEM67):c.497T>C (p.Leu166Ser)	Inborn genetic diseases [RCV002552341]\|Joubert syndrome [RCV002050446]	uncertain significance	8	93763932	93763932	Human	2	name
151805295	CV1397218	single nucleotide variant	NM_153704.6(TMEM67):c.982A>T (p.Thr328Ser)	Joubert syndrome [RCV001930879]	uncertain significance	8	93781661	93781661	Human	1	name
151711324	CV1400042	single nucleotide variant	NM_153704.6(TMEM67):c.722C>G (p.Ala241Gly)	COACH syndrome 1 [RCV002484770]\|Joubert syndrome [RCV002002145]\|not specified [RCV004526887]	uncertain significance	8	93780600	93780600	Human	2	name
151716131	CV1404691	single nucleotide variant	NM_153704.6(TMEM67):c.317G>A (p.Gly106Asp)	Joubert syndrome [RCV002022656]	uncertain significance	8	93758487	93758487	Human	1	name
151813430	CV1404914	single nucleotide variant	NM_153704.6(TMEM67):c.453G>C (p.Glu151Asp)	Joubert syndrome [RCV001947167]	uncertain significance	8	93763888	93763888	Human	1	name
151824500	CV1410793	single nucleotide variant	NM_153704.6(TMEM67):c.995T>G (p.Phe332Cys)	Joubert syndrome [RCV001971137]	uncertain significance	8	93781674	93781674	Human	1	name
151833540	CV1416701	single nucleotide variant	NM_153704.6(TMEM67):c.766A>G (p.Asn256Asp)	COACH syndrome 1 [RCV005042581]\|Joubert syndrome [RCV001989730]	uncertain significance	8	93780644	93780644	Human	2	name
151797148	CV1427703	single nucleotide variant	NM_153704.6(TMEM67):c.991A>C (p.Lys331Gln)	COACH syndrome 1 [RCV002482763]\|Inborn genetic diseases [RCV004681301]\|Joubert syndrome [RCV001915157]	uncertain significance	8	93781670	93781670	Human	3	name
151803059	CV1428117	single nucleotide variant	NM_153704.6(TMEM67):c.695C>T (p.Ser232Leu)	Joubert syndrome [RCV001926877]	uncertain significance	8	93772632	93772632	Human	1	name
151795892	CV1431085	single nucleotide variant	NM_153704.6(TMEM67):c.905A>G (p.Gln302Arg)	Joubert syndrome [RCV001912787]	uncertain significance	8	93780909	93780909	Human	1	name
151709931	CV1441885	single nucleotide variant	NM_153704.6(TMEM67):c.361T>G (p.Leu121Val)	Joubert syndrome [RCV001995666]	uncertain significance	8	93758531	93758531	Human	1	name
151779173	CV1447043	single nucleotide variant	NM_153704.6(TMEM67):c.756G>C (p.Met252Ile)	Joubert syndrome [RCV001880392]	uncertain significance	8	93780634	93780634	Human	1	name
151818273	CV1448524	single nucleotide variant	NM_153704.6(TMEM67):c.326A>G (p.Glu109Gly)	COACH syndrome 1 [RCV002484694]\|Joubert syndrome [RCV001957946]	uncertain significance	8	93758496	93758496	Human	2	name
151797284	CV1450416	single nucleotide variant	NM_153704.6(TMEM67):c.407T>C (p.Val136Ala)	Joubert syndrome [RCV001915394]	uncertain significance	8	93763842	93763842	Human	1	name
151789399	CV1453459	single nucleotide variant	NM_153704.6(TMEM67):c.459T>A (p.Cys153Ter)	Joubert syndrome [RCV001900622]	pathogenic	8	93763894	93763894	Human	1	name
151720892	CV1455103	single nucleotide variant	NM_153704.6(TMEM67):c.601A>G (p.Thr201Ala)	Joubert syndrome [RCV002038004]	uncertain significance	8	93765596	93765596	Human	1	name
151719982	CV1456160	single nucleotide variant	NM_153704.6(TMEM67):c.599G>A (p.Ser200Asn)	Joubert syndrome [RCV002035042]	uncertain significance	8	93765594	93765594	Human	1	name
151714667	CV1458924	single nucleotide variant	NM_153704.6(TMEM67):c.308A>G (p.Asn103Ser)	Joubert syndrome [RCV002016723]	uncertain significance	8	93755862	93755862	Human	1	name
151791272	CV1473846	single nucleotide variant	NM_153704.6(TMEM67):c.983C>T (p.Thr328Ile)	Joubert syndrome [RCV001904637]	uncertain significance	8	93781662	93781662	Human	1	name
151784629	CV1492659	single nucleotide variant	NM_153704.6(TMEM67):c.692A>G (p.Gln231Arg)	COACH syndrome 1 [RCV002478213]\|Joubert syndrome [RCV001890113]	uncertain significance	8	93772629	93772629	Human	2	name
151796553	CV1502896	single nucleotide variant	NM_153704.6(TMEM67):c.722C>T (p.Ala241Val)	Joubert syndrome [RCV001914030]	uncertain significance	8	93780600	93780600	Human	1	name
151721406	CV1505891	single nucleotide variant	NM_153704.6(TMEM67):c.714G>A (p.Trp238Ter)	Joubert syndrome [RCV002039875]	pathogenic	8	93772651	93772651	Human	1	name
151716625	CV1508998	single nucleotide variant	NM_153704.6(TMEM67):c.926T>G (p.Val309Gly)	COACH syndrome 1 [RCV002492387]\|Joubert syndrome [RCV002023980]	uncertain significance	8	93780930	93780930	Human	2	name
151770559	CV1512760	single nucleotide variant	NM_153704.6(TMEM67):c.376A>C (p.Lys126Gln)	Joubert syndrome [RCV001866767]	uncertain significance	8	93758546	93758546	Human	1	name
8556160	CV16415	single nucleotide variant	NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter)	COACH syndrome 1 [RCV002490291]\|Inborn genetic diseases [RCV003242959]\|Joubert syndrome 6 [RCV000001443]\|Joubert syndrome [RCV000468558]\|Joubert syndrome and related disorders [RCV002298428]\|Meckel syndrome, type 3 [RCV000001442]\|RHYNS syndrome [RCV000723362]\|TMEM67 ... (more) pan>-related disorder [RCV000334857]\|not provided [RCV000494327]	pathogenic	8	93765617	93765617	Human	11	name , alternate_id
8595388	CV16416	single nucleotide variant	NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys)	Bardet-Biedl syndrome 14, modifier of [RCV000001444]\|COACH syndrome 1 [RCV001333012]\|COACH syndrome 1 [RCV005394103]\|Joubert syndrome 6 [RCV001158404]\|Joubert syndrome [RCV001085857]\|Meckel syndrome, type 3 [RCV001158405]\|Nephronophthisis 11 [RCV001158406]\|Nephronophthisis [RCV000234830]\|RHYNS syndr ... (more) ome [RCV001198570]\|TMEM67-related disorder [RCV004528064]\|not provided [RCV000725926]\|not specified [RCV003488318]	risk factor\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	8	93780962	93780962	Human	13	name , alternate_id
8556167	CV16423	single nucleotide variant	NM_153704.6(TMEM67):c.869G>T (p.Trp290Leu)	Nephronophthisis 11 [RCV000001453]	pathogenic	8	93780747	93780747	Human	1	name
8556170	CV16426	single nucleotide variant	NM_153704.6(TMEM67):c.755T>C (p.Met252Thr)	COACH syndrome 1 [RCV002490292]\|Joubert syndrome 6 [RCV000001457]\|Joubert syndrome [RCV001389251]\|Joubert syndrome and related disorders [RCV004689399]\|Nephronophthisis [RCV000234813]\|TMEM67-related disorder [RCV004732521]\|not provided [RCV000418247]	pathogenic\|likely pathogenic\|not provided	8	93780633	93780633	Human	13	name , alternate_id
152979639	CV1675682	single nucleotide variant	NM_153704.6(TMEM67):c.345T>G (p.Ile115Met)	Joubert syndrome 6 [RCV002244272]	uncertain significance	8	93758515	93758515	Human	1	name
155264903	CV1704452	single nucleotide variant	NM_153704.6(TMEM67):c.970G>A (p.Glu324Lys)	Inborn genetic diseases [RCV003101633]\|Joubert syndrome [RCV003097670]\|TMEM67-related disorder [RCV004733503]\|not provided [RCV002284668]	uncertain significance	8	93780974	93780974	Human	5	name , alternate_id
155699875	CV1773042	single nucleotide variant	NM_153704.6(TMEM67):c.675G>C (p.Trp225Cys)	Joubert syndrome [RCV002295562]	uncertain significance	8	93772612	93772612	Human	1	name
156238868	CV1882310	single nucleotide variant	NM_153704.6(TMEM67):c.565C>T (p.Pro189Ser)	Joubert syndrome [RCV003085666]	uncertain significance	8	93765464	93765464	Human	1	name
156138263	CV1888057	single nucleotide variant	NM_153704.6(TMEM67):c.355A>G (p.Ser119Gly)	Joubert syndrome [RCV003082101]	uncertain significance	8	93758525	93758525	Human	1	name
156128806	CV1889258	indel	NM_153704.6(TMEM67):c.577-12_577-1delinsAA	Joubert syndrome [RCV003081750]	likely pathogenic	8	93765560	93765571	Human		name
10045236	CV189032	single nucleotide variant	NM_153704.6(TMEM67):c.739C>G (p.Gln247Glu)	not provided [RCV000171417]	likely pathogenic	8	93780617	93780617	Human		name
156291544	CV1907905	single nucleotide variant	NM_153704.6(TMEM67):c.859A>G (p.Ile287Val)	Joubert syndrome [RCV002598775]	uncertain significance	8	93780737	93780737	Human	1	name
156301200	CV1916106	single nucleotide variant	NM_153704.6(TMEM67):c.619C>T (p.Arg207Cys)	Joubert syndrome [RCV002599180]	uncertain significance	8	93765614	93765614	Human	1	name
156406444	CV1921584	single nucleotide variant	NM_153704.6(TMEM67):c.816G>C (p.Gln272His)	Joubert syndrome [RCV002606590]\|TMEM67-related disorder [RCV004733590]	uncertain significance	8	93780694	93780694	Human	4	name , alternate_id
156244832	CV1973375	single nucleotide variant	NM_153704.6(TMEM67):c.588A>T (p.Leu196Phe)	Joubert syndrome [RCV002597270]	uncertain significance	8	93765583	93765583	Human	1	name
156411300	CV1976211	single nucleotide variant	NM_153704.6(TMEM67):c.757T>G (p.Cys253Gly)	Joubert syndrome [RCV002587445]	uncertain significance	8	93780635	93780635	Human	1	name
156349611	CV2005559	single nucleotide variant	NM_153704.6(TMEM67):c.854A>T (p.His285Leu)	Joubert syndrome [RCV002650785]	uncertain significance	8	93780732	93780732	Human	1	name
156290289	CV2055146	duplication	NM_153704.6(TMEM67):c.2302dup (p.Asp768fs)	Joubert syndrome [RCV002833175]	pathogenic	8	93803663	93803664	Human	1	name
156178968	CV2062282	single nucleotide variant	NM_153704.6(TMEM67):c.793T>G (p.Phe265Val)	Joubert syndrome [RCV002828241]	uncertain significance	8	93780671	93780671	Human	1	name
156354570	CV2062443	single nucleotide variant	NM_153704.6(TMEM67):c.796G>C (p.Asp266His)	Joubert syndrome [RCV002812038]	uncertain significance	8	93780674	93780674	Human	1	name
156054492	CV2064751	single nucleotide variant	NM_153704.6(TMEM67):c.476C>T (p.Ser159Phe)	Joubert syndrome [RCV002846549]	uncertain significance	8	93763911	93763911	Human	1	name
156298645	CV2075751	deletion	NM_153704.6(TMEM67):c.1130del (p.Asn377fs)	Joubert syndrome [RCV002857061]	pathogenic	8	93782456	93782456	Human	1	name
155955714	CV2120383	single nucleotide variant	NM_153704.6(TMEM67):c.319G>A (p.Val107Ile)	Joubert syndrome [RCV002972111]\|not provided [RCV003427534]	uncertain significance	8	93758489	93758489	Human	1	name
10408770	CV212652	single nucleotide variant	NM_153704.6(TMEM67):c.725A>G (p.Asn242Ser)	Abnormality of the nervous system [RCV001814102]\|COACH syndrome 1 [RCV002283466]\|COACH syndrome 1 [RCV005042429]\|Inborn genetic diseases [RCV000624166]\|Joubert syndrome 6 [RCV000201726]\|Joubert syndrome [RCV000198666]\|Nephronophthisis 11 [RCV004798803]\|not provided [RCV001090385]	pathogenic\|likely pathogenic\|uncertain significance	8	93780603	93780603	Human	7	name
156201654	CV2134693	insertion	NM_153704.6(TMEM67):c.1132-2_1132-1insAAAA	Joubert syndrome [RCV002985236]	uncertain significance	8	93785219	93785220	Human	1	name
156090245	CV2135512	single nucleotide variant	NM_153704.6(TMEM67):c.952A>G (p.Asn318Asp)	Joubert syndrome [RCV003001807]\|TMEM67-related disorder [RCV004733554]	uncertain significance	8	93780956	93780956	Human	4	name , alternate_id
10448775	CV214272	single nucleotide variant	NM_153704.6(TMEM67):c.300C>A (p.Cys100Ter)	COACH syndrome 1 [RCV002500632]\|Joubert syndrome 6 [RCV000201716]\|Joubert syndrome [RCV003765305]	pathogenic\|likely pathogenic	8	93755854	93755854	Human	3	name
10448754	CV214273	single nucleotide variant	NM_153704.6(TMEM67):c.389C>G (p.Pro130Arg)	Joubert syndrome 6 [RCV000201664]	pathogenic	8	93758559	93758559	Human	1	name
10448761	CV214274	single nucleotide variant	NM_153704.6(TMEM67):c.515G>A (p.Arg172Gln)	Joubert syndrome 6 [RCV000201683]\|Joubert syndrome [RCV001853242]\|not specified [RCV002222442]	pathogenic\|likely pathogenic\|uncertain significance	8	93765414	93765414	Human	2	name
10448784	CV214275	single nucleotide variant	NM_153704.6(TMEM67):c.730A>G (p.Thr244Ala)	Joubert syndrome 6 [RCV000201733]	pathogenic	8	93780608	93780608	Human	1	name
10448728	CV214276	single nucleotide variant	NM_153704.6(TMEM67):c.769A>G (p.Met257Val)	COACH syndrome 1 [RCV002500631]\|Joubert syndrome 6 [RCV000201614]\|Joubert syndrome [RCV002517316]	pathogenic\|likely pathogenic	8	93780647	93780647	Human	3	name
156357565	CV2162115	single nucleotide variant	NM_153704.6(TMEM67):c.485T>C (p.Val162Ala)	Joubert syndrome [RCV003031337]	uncertain significance	8	93763920	93763920	Human	1	name
156295266	CV2162648	single nucleotide variant	NM_153704.6(TMEM67):c.949A>T (p.Thr317Ser)	Joubert syndrome [RCV003045307]	uncertain significance	8	93780953	93780953	Human	1	name
156074335	CV2165391	single nucleotide variant	NM_153704.6(TMEM67):c.401T>C (p.Ile134Thr)	Joubert syndrome [RCV003037666]	uncertain significance	8	93758571	93758571	Human	1	name
156267751	CV2167823	single nucleotide variant	NM_153704.6(TMEM67):c.329A>T (p.Asp110Val)	Joubert syndrome [RCV003026877]	likely pathogenic	8	93758499	93758499	Human	1	name
156101452	CV2180086	single nucleotide variant	NM_153704.6(TMEM67):c.937A>G (p.Thr313Ala)	Joubert syndrome [RCV003054742]	uncertain significance	8	93780941	93780941	Human	1	name
10767032	CV221800	single nucleotide variant	NM_153704.6(TMEM67):c.517T>C (p.Cys173Arg)	Joubert syndrome [RCV000204053]\|Nephronophthisis 11 [RCV001281327]	pathogenic\|likely pathogenic\|uncertain significance	8	93765416	93765416	Human	2	name
10767343	CV221801	single nucleotide variant	NM_153704.6(TMEM67):c.934T>C (p.Ser312Pro)	Joubert syndrome [RCV000204544]	uncertain significance	8	93780938	93780938	Human	1	name
12907356	CV227327	deletion	NM_153704.6(TMEM67):c.1353del (p.Glu452fs)	Bardet-Biedl syndrome [RCV000490354]\|COACH syndrome 1 [RCV005042457]\|Joubert syndrome 6 [RCV005252816]\|Joubert syndrome [RCV003765357]\|Meckel syndrome, type 3 [RCV003997697]	pathogenic\|likely pathogenic	8	93786287	93786287	Human	5	name
156301455	CV2322767	single nucleotide variant	NM_153704.6(TMEM67):c.829A>T (p.Asn277Tyr)	Inborn genetic diseases [RCV002936398]	uncertain significance	8	93780707	93780707	Human	1	name
243062320	CV2404720	deletion	NM_153704.6(TMEM67):c.2758del (p.Tyr920fs)	COACH syndrome 1 [RCV005047426]	pathogenic	8	93809878	93809878	Human	1	name
243062331	CV2404736	single nucleotide variant	NM_153704.6(TMEM67):c.329A>G (p.Asp110Gly)	COACH syndrome 1 [RCV005047427]\|Joubert syndrome [RCV003778693]\|TMEM67-related disorder [RCV003315267]	pathogenic\|likely pathogenic	8	93758499	93758499	Human	10	name , alternate_id
329398303	CV2464424	single nucleotide variant	NM_153704.6(TMEM67):c.718T>C (p.Tyr240His)	Inborn genetic diseases [RCV003196016]	uncertain significance	8	93780596	93780596	Human	1	name
11588000	CV266592	single nucleotide variant	NM_153704.6(TMEM67):c.863C>A (p.Ser288Ter)	COACH syndrome 1 [RCV002487195]\|Joubert syndrome [RCV002518850]\|not provided [RCV000400090]	pathogenic\|likely pathogenic	8	93780741	93780741	Human	2	name
329952033	CV2668774	single nucleotide variant	NM_153704.6(TMEM67):c.395G>C (p.Gly132Ala)	not specified [RCV003230855]	uncertain significance	8	93758565	93758565	Human		name
11642368	CV268514	single nucleotide variant	NM_153704.6(TMEM67):c.370G>A (p.Glu124Lys)	COACH syndrome 1 [RCV005044531]\|Inborn genetic diseases [RCV000622377]\|Joubert syndrome [RCV001859598]\|Joubert syndrome and related disorders [RCV004586658]\|not provided [RCV000373992]	pathogenic\|likely pathogenic\|uncertain significance\|no classifications from unflagged records	8	93758540	93758540	Human	3	name
401796907	CV2739889	single nucleotide variant	NM_153704.6(TMEM67):c.835G>A (p.Ala279Thr)	not provided [RCV003319850]	uncertain significance	8	93780713	93780713	Human		name
401907114	CV2795863	single nucleotide variant	NM_153704.6(TMEM67):c.515G>T (p.Arg172Leu)	Joubert syndrome 6 [RCV003397210]\|Joubert syndrome [RCV003778173]\|not provided [RCV004697291]	likely pathogenic\|uncertain significance	8	93765414	93765414	Human	2	name
401925959	CV2796431	single nucleotide variant	NM_153704.6(TMEM67):c.384C>G (p.His128Gln)	TMEM67-related disorder [RCV004539031]	uncertain significance	8	93758554	93758554	Human		name , trait , alternate_id
401933984	CV2802519	single nucleotide variant	NM_153704.6(TMEM67):c.385T>C (p.Cys129Arg)	TMEM67-related disorder [RCV004536682]	uncertain significance	8	93758555	93758555	Human		name , trait , alternate_id
401924061	CV2821174	single nucleotide variant	NM_153704.6(TMEM67):c.502G>A (p.Asp168Asn)	not provided [RCV003435555]	uncertain significance	8	93763937	93763937	Human		name
404995553	CV3085385	single nucleotide variant	NM_153704.6(TMEM67):c.754A>G (p.Met252Val)	Joubert syndrome [RCV003782916]	likely pathogenic	8	93780632	93780632	Human	1	name
404984813	CV3087308	single nucleotide variant	NM_153704.6(TMEM67):c.869G>A (p.Trp290Ter)	Joubert syndrome [RCV003781771]	pathogenic	8	93780747	93780747	Human	1	name
405021821	CV3088128	single nucleotide variant	NM_153704.6(TMEM67):c.371A>C (p.Glu124Ala)	COACH syndrome 1 [RCV005040516]\|Joubert syndrome [RCV003795688]	likely pathogenic\|uncertain significance	8	93758541	93758541	Human	2	name
405034049	CV3098784	deletion	NM_153704.6(TMEM67):c.2163del (p.Ser722fs)	Joubert syndrome [RCV003806910]	pathogenic	8	93799680	93799680	Human	1	name
405170614	CV3104307	single nucleotide variant	NM_153704.6(TMEM67):c.749G>A (p.Gly250Glu)	Joubert syndrome [RCV003802984]	likely pathogenic	8	93780627	93780627	Human	1	name
405089640	CV3104999	duplication	NM_153704.6(TMEM67):c.1704dup (p.Gly569fs)	Joubert syndrome [RCV003800882]	pathogenic	8	93795437	93795438	Human	1	name
405038157	CV3114052	single nucleotide variant	NM_153704.6(TMEM67):c.463G>A (p.Gly155Arg)	Joubert syndrome [RCV003807266]	uncertain significance	8	93763898	93763898	Human	1	name
405772003	CV3346680	single nucleotide variant	NM_153704.6(TMEM67):c.712T>C (p.Trp238Arg)	Inborn genetic diseases [RCV004470451]	uncertain significance	8	93772649	93772649	Human	1	name
405852244	CV3395797	single nucleotide variant	NM_153704.6(TMEM67):c.413G>T (p.Arg138Ile)	Joubert syndrome 6 [RCV004556137]	uncertain significance	8	93763848	93763848	Human	1	name
407573480	CV3499258	single nucleotide variant	NM_153704.6(TMEM67):c.653G>A (p.Gly218Asp)	not specified [RCV004701152]	uncertain significance	8	93772590	93772590	Human		name
408378933	CV3503951	single nucleotide variant	NM_153704.6(TMEM67):c.640T>C (p.Tyr214His)	TMEM67-related disorder [RCV004728188]	uncertain significance	8	93765635	93765635	Human		name , trait , alternate_id
408382765	CV3505999	single nucleotide variant	NM_153704.6(TMEM67):c.574T>A (p.Leu192Ile)	TMEM67-related disorder [RCV004730145]	uncertain significance	8	93765473	93765473	Human		name , trait , alternate_id
408368024	CV3509816	single nucleotide variant	NM_153704.6(TMEM67):c.656T>C (p.Met219Thr)	TMEM67-related disorder [RCV004733765]	uncertain significance	8	93772593	93772593	Human		name , trait , alternate_id
408368097	CV3515402	single nucleotide variant	NM_153704.6(TMEM67):c.412A>G (p.Arg138Gly)	TMEM67-related disorder [RCV004733904]	uncertain significance	8	93763847	93763847	Human		name , trait , alternate_id
408385430	CV3528503	single nucleotide variant	NM_153704.6(TMEM67):c.431T>G (p.Leu144Trp)	not provided [RCV004772335]	uncertain significance	8	93763866	93763866	Human		name
597628765	CV3610652	single nucleotide variant	NM_153704.6(TMEM67):c.620G>A (p.Arg207His)	Inborn genetic diseases [RCV004966924]	uncertain significance	8	93765615	93765615	Human	1	name
597628776	CV3610655	single nucleotide variant	NM_153704.6(TMEM67):c.824T>C (p.Phe275Ser)	Inborn genetic diseases [RCV004966927]	uncertain significance	8	93780702	93780702	Human	1	name
597666994	CV3719206	single nucleotide variant	NM_153704.6(TMEM67):c.316G>A (p.Gly106Ser)	COACH syndrome 1 [RCV005043454]	uncertain significance	8	93758486	93758486	Human	1	name
597667002	CV3719207	single nucleotide variant	NM_153704.6(TMEM67):c.363A>C (p.Leu121Phe)	COACH syndrome 1 [RCV005043455]	uncertain significance	8	93758533	93758533	Human	1	name
597667027	CV3719209	single nucleotide variant	NM_153704.6(TMEM67):c.637C>T (p.Arg213Cys)	COACH syndrome 1 [RCV005043458]\|Joubert syndrome [RCV005223186]	pathogenic\|likely pathogenic	8	93765632	93765632	Human	2	name
597736307	CV3719210	single nucleotide variant	NM_153704.6(TMEM67):c.746T>C (p.Leu249Pro)	COACH syndrome 1 [RCV005051716]	uncertain significance	8	93780624	93780624	Human	1	name
597736541	CV3719211	single nucleotide variant	NM_153704.6(TMEM67):c.773A>G (p.Asn258Ser)	COACH syndrome 1 [RCV005051717]	uncertain significance	8	93780651	93780651	Human	1	name
597667041	CV3719212	single nucleotide variant	NM_153704.6(TMEM67):c.838G>C (p.Gly280Arg)	COACH syndrome 1 [RCV005043460]	uncertain significance	8	93780716	93780716	Human	1	name
597667050	CV3719213	single nucleotide variant	NM_153704.6(TMEM67):c.856T>C (p.Ser286Pro)	COACH syndrome 1 [RCV005043461]	uncertain significance	8	93780734	93780734	Human	1	name
597736326	CV3719215	single nucleotide variant	NM_153704.6(TMEM67):c.906G>C (p.Gln302His)	COACH syndrome 1 [RCV005051719]	uncertain significance	8	93780910	93780910	Human	1	name
597736332	CV3719216	single nucleotide variant	NM_153704.6(TMEM67):c.929T>A (p.Leu310His)	COACH syndrome 1 [RCV005051720]	uncertain significance	8	93780933	93780933	Human	1	name
597667057	CV3719217	single nucleotide variant	NM_153704.6(TMEM67):c.983C>G (p.Thr328Arg)	COACH syndrome 1 [RCV005043462]	uncertain significance	8	93781662	93781662	Human	1	name
597667227	CV3719240	deletion	NM_153704.6(TMEM67):c.1991del (p.Pro664fs)	COACH syndrome 1 [RCV005043483]	likely pathogenic	8	93797360	93797360	Human	1	name
597667307	CV3719258	deletion	NM_153704.6(TMEM67):c.2959del (p.Thr987fs)	COACH syndrome 1 [RCV005043493]	uncertain significance	8	93816420	93816420	Human	1	name
597840549	CV3867913	single nucleotide variant	NM_153704.6(TMEM67):c.351C>A (p.Cys117Ter)	Joubert syndrome [RCV005211109]	pathogenic	8	93758521	93758521	Human	1	name
597836616	CV3874480	single nucleotide variant	NM_153704.6(TMEM67):c.511G>T (p.Val171Phe)	Joubert syndrome [RCV005210401]	pathogenic	8	93765410	93765410	Human	1	name
597859826	CV3874686	deletion	NM_153704.6(TMEM67):c.1170del (p.Thr391fs)	Joubert syndrome [RCV005214027]	pathogenic	8	93785258	93785258	Human	1	name
597898373	CV3876032	duplication	NM_153704.6(TMEM67):c.2596dup (p.Thr866fs)	Joubert syndrome [RCV005219922]	pathogenic	8	93809095	93809096	Human	1	name
597843058	CV3878405	deletion	NM_153704.6(TMEM67):c.2857del (p.Ala953fs)	Joubert syndrome [RCV005226895]	pathogenic	8	93815396	93815396	Human	1	name
616934188	CV4012062	single nucleotide variant	NM_153704.6(TMEM67):c.950C>G (p.Thr317Arg)	not specified [RCV005409096]	uncertain significance	8	93780954	93780954	Human		name
616937974	CV4013832	single nucleotide variant	NM_153704.6(TMEM67):c.527C>T (p.Thr176Ile)	Joubert syndrome 6 [RCV005413324]	uncertain significance	8	93765426	93765426	Human	1	name
12894064	CV407500	single nucleotide variant	NM_153704.6(TMEM67):c.887G>A (p.Trp296Ter)	not provided [RCV000481358]	pathogenic	8	93780891	93780891	Human		name
12893829	CV407501	deletion	NM_153704.6(TMEM67):c.2601del (p.Phe867fs)	not provided [RCV000480379]	likely pathogenic	8	93809098	93809098	Human		name
13610229	CV425214	single nucleotide variant	NM_153704.6(TMEM67):c.439C>T (p.Gln147Ter)	COACH syndrome 1 [RCV000655938]	pathogenic	8	93763874	93763874	Human	1	name
13475685	CV444309	single nucleotide variant	NM_153704.6(TMEM67):c.653G>C (p.Gly218Ala)	COACH syndrome 1 [RCV001333011]\|COACH syndrome 1 [RCV002476053]\|Joubert syndrome 6 [RCV001165119]\|Joubert syndrome [RCV001857955]\|Meckel syndrome, type 3 [RCV001165120]\|Nephronophthisis 11 [RCV001165118]\|RHYNS syndrome [RCV001198569]\|TMEM67-related disorder [RCV ... (more) 004732925]\|not provided [RCV000519954]\|not specified [RCV001797744]	uncertain significance	8	93772590	93772590	Human	10	name , alternate_id
13464406	CV458103	single nucleotide variant	NM_153704.6(TMEM67):c.638G>A (p.Arg213His)	COACH syndrome 1 [RCV002476130]\|Joubert syndrome 6 [RCV002245001]\|Joubert syndrome [RCV000542172]\|not specified [RCV003488671]	pathogenic\|likely pathogenic\|uncertain significance	8	93765633	93765633	Human	3	name
13478391	CV458716	single nucleotide variant	NM_153704.6(TMEM67):c.511G>A (p.Val171Ile)	COACH syndrome 1 [RCV005044803]\|Joubert syndrome 6 [RCV001420616]\|Joubert syndrome [RCV000527602]\|TMEM67-related disorder [RCV004732934]\|not provided [RCV000999054]	likely benign\|uncertain significance	8	93765410	93765410	Human	10	name , alternate_id
13515771	CV489404	single nucleotide variant	NM_153704.6(TMEM67):c.347C>T (p.Ser116Phe)	not provided [RCV000594698]	uncertain significance	8	93758517	93758517	Human		name
13528944	CV496932	single nucleotide variant	NM_153704.6(TMEM67):c.514C>T (p.Arg172Ter)	COACH syndrome 1 [RCV002506454]\|Iris coloboma [RCV000627005]\|Joubert syndrome [RCV001860256]\|Meckel syndrome, type 3 [RCV003236585]\|Meckel-Gruber syndrome [RCV000613872]	pathogenic\|likely pathogenic	8	93765413	93765413	Human	9	name
13816985	CV562548	single nucleotide variant	NM_153704.6(TMEM67):c.443C>A (p.Ala148Glu)	Joubert syndrome [RCV000692698]	uncertain significance	8	93763878	93763878	Human	1	name
13831933	CV582430	single nucleotide variant	NM_153704.6(TMEM67):c.458G>T (p.Cys153Phe)	not provided [RCV000722618]	uncertain significance	8	93763893	93763893	Human		name
14693360	CV620309	deletion	NM_153704.6(TMEM67):c.1200del (p.Glu400fs)	TMEM67-related disorder [RCV000778867]	uncertain significance	8	93785289	93785289	Human		name , trait , alternate_id
14720657	CV637488	duplication	NM_153704.6(TMEM67):c.1373dup (p.Pro459fs)	Joubert syndrome [RCV000796743]	pathogenic	8	93786306	93786307	Human	1	name
8617499	CV71411	deletion	NM_153704.6(TMEM67):c.2301del (p.Asp768fs)	Meckel syndrome, type 3 [RCV000050185]	pathogenic\|likely pathogenic	8	93803662	93803662	Human	1	name
8617505	CV71417	duplication	NM_153704.6(TMEM67):c.2561dup (p.Asn854fs)	Meckel syndrome, type 3 [RCV000050191]	likely pathogenic	8	93809056	93809057	Human	1	name
8617509	CV71421	single nucleotide variant	NM_153704.6(TMEM67):c.387T>A (p.Cys129Ter)	Joubert syndrome [RCV002514271]\|Meckel syndrome, type 3 [RCV000050195]	pathogenic\|likely pathogenic	8	93758557	93758557	Human	2	name
8617514	CV71426	single nucleotide variant	NM_153704.6(TMEM67):c.675G>A (p.Trp225Ter)	Joubert syndrome 6 [RCV000201769]\|Joubert syndrome [RCV002514272]\|Meckel syndrome, type 3 [RCV000050200]	pathogenic\|likely pathogenic	8	93772612	93772612	Human	3	name
8617515	CV71427	single nucleotide variant	NM_153704.6(TMEM67):c.734C>T (p.Ser245Phe)	Meckel syndrome, type 3 [RCV000050201]	likely pathogenic	8	93780612	93780612	Human	1	name
8617516	CV71428	single nucleotide variant	NM_153704.6(TMEM67):c.888G>T (p.Trp296Cys)	Meckel syndrome, type 3 [RCV000050202]	likely pathogenic	8	93780892	93780892	Human	1	name
21404541	CV802166	single nucleotide variant	NM_153704.6(TMEM67):c.628T>C (p.Ser210Pro)	Joubert syndrome 6 [RCV001004930]\|not specified [RCV005408640]	uncertain significance	8	93765623	93765623	Human	1	name
26897550	CV835150	single nucleotide variant	NM_153704.6(TMEM67):c.679G>A (p.Ala227Thr)	Joubert syndrome [RCV001048589]	uncertain significance	8	93772616	93772616	Human	1	name
28873899	CV900152	single nucleotide variant	NM_153704.6(TMEM67):c.539C>T (p.Thr180Ile)	Inborn genetic diseases [RCV004678974]\|Joubert syndrome 6 [RCV001165116]\|Meckel syndrome, type 3 [RCV001165115]\|Nephronophthisis 11 [RCV001165117]	uncertain significance	8	93765438	93765438	Human	4	name
34891667	CV906253	single nucleotide variant	NM_153704.6(TMEM67):c.406G>C (p.Val136Leu)	Joubert syndrome 6 [RCV001175228]	likely pathogenic	8	93758576	93758576	Human	1	name
38465244	CV934444	single nucleotide variant	NM_153704.6(TMEM67):c.531T>G (p.Phe177Leu)	Joubert syndrome [RCV001212616]	uncertain significance	8	93765430	93765430	Human	1	name
41408010	CV962718	single nucleotide variant	NM_153704.6(TMEM67):c.551G>A (p.Cys184Tyr)	Nephronophthisis 11 [RCV001281328]	likely pathogenic	8	93765450	93765450	Human	1	name
126729181	CV985737	single nucleotide variant	NM_153704.6(TMEM67):c.475T>C (p.Ser159Pro)	Joubert syndrome 6 [RCV001293702]\|Joubert syndrome [RCV003770476]\|not specified [RCV004690066]	pathogenic\|likely pathogenic\|uncertain significance	8	93763910	93763910	Human	2	name
597736338	CV3719222	single nucleotide variant	NM_153704.6(TMEM67):c.1318C>G (p.Arg440Gly)	COACH syndrome 1 [RCV005051721]	likely pathogenic	8	93786252	93786252	Human	1	name
597736346	CV3719225	single nucleotide variant	NM_153704.6(TMEM67):c.1414G>A (p.Val472Ile)	COACH syndrome 1 [RCV005051722]	uncertain significance	8	93787845	93787845	Human	1	name
597667129	CV3719228	single nucleotide variant	NM_153704.6(TMEM67):c.1513G>C (p.Val505Leu)	COACH syndrome 1 [RCV005043471]	uncertain significance	8	93787944	93787944	Human	1	name
597667291	CV3719251	single nucleotide variant	NM_153704.6(TMEM67):c.2553A>G (p.Ile851Met)	COACH syndrome 1 [RCV005043491]	uncertain significance	8	93808953	93808953	Human	1	name
597736364	CV3719253	single nucleotide variant	NM_153704.6(TMEM67):c.2611A>G (p.Ile871Val)	COACH syndrome 1 [RCV005051725]	uncertain significance	8	93809111	93809111	Human	1	name
597736376	CV3719255	single nucleotide variant	NM_153704.6(TMEM67):c.2644G>C (p.Gly882Arg)	COACH syndrome 1 [RCV005051727]	uncertain significance	8	93809144	93809144	Human	1	name
597833279	CV3864089	single nucleotide variant	NM_153704.6(TMEM67):c.2035G>C (p.Glu679Gln)	Joubert syndrome [RCV005209725]	uncertain significance	8	93797405	93797405	Human	1	name
597864813	CV3872505	single nucleotide variant	NM_153704.6(TMEM67):c.1646G>T (p.Arg549Leu)	Joubert syndrome [RCV005214780]	likely pathogenic	8	93793268	93793268	Human	1	name
597853742	CV3873815	single nucleotide variant	NM_153704.6(TMEM67):c.2950G>A (p.Ala984Thr)	Joubert syndrome [RCV005228600]	uncertain significance	8	93816414	93816414	Human	1	name
8617502	CV71414	single nucleotide variant	NM_153704.6(TMEM67):c.2528A>G (p.Tyr843Cys)	Joubert syndrome [RCV005213202]\|Meckel syndrome, type 3 [RCV000050188]\|TMEM67-related disorder [RCV004537237]	pathogenic\|likely pathogenic\|uncertain significance	8	93808928	93808928	Human	5	name , alternate_id
8617503	CV71415	single nucleotide variant	NM_153704.6(TMEM67):c.2542G>T (p.Glu848Ter)	Meckel syndrome, type 3 [RCV000050189]	likely pathogenic	8	93808942	93808942	Human	1	name
8617504	CV71416	single nucleotide variant	NM_153704.6(TMEM67):c.2557A>T (p.Lys853Ter)	Meckel syndrome, type 3 [RCV000050190]\|TMEM67-related disorder [RCV004732643]	pathogenic\|likely pathogenic	8	93809057	93809057	Human	1	name , alternate_id
8617507	CV71419	single nucleotide variant	NM_153704.6(TMEM67):c.2897T>C (p.Leu966Pro)	Meckel syndrome, type 3 [RCV000050193]	likely pathogenic	8	93815437	93815437	Human	1	name
127247400	CV1061450	single nucleotide variant	NM_153704.6(TMEM67):c.1975C>T (p.Arg659Ter)	COACH syndrome 1 [RCV002499801]\|Joubert syndrome [RCV001384718]\|TMEM67-related disorder [RCV004531194]\|not provided [RCV003132490]	pathogenic\|likely pathogenic	8	93797345	93797345	Human	10	alternate_id
151791097	CV1357479	single nucleotide variant	NM_153704.6(TMEM67):c.2176C>T (p.Pro726Ser)	Inborn genetic diseases [RCV005288572]\|Joubert syndrome [RCV001904354]\|TMEM67-related disorder [RCV004733391]	uncertain significance	8	93799693	93799693	Human	5	alternate_id
151724151	CV1394174	single nucleotide variant	NM_153704.6(TMEM67):c.1844G>A (p.Cys615Tyr)	COACH syndrome 1 [RCV005040416]\|Joubert syndrome [RCV002046929]\|TMEM67-related disorder [RCV004733388]	likely pathogenic\|uncertain significance	8	93795971	93795971	Human	10	alternate_id
151828935	CV1403492	single nucleotide variant	NM_153704.6(TMEM67):c.2923C>T (p.Arg975Cys)	COACH syndrome 1 [RCV002484765]\|Joubert syndrome [RCV001979909]\|TMEM67-related disorder [RCV004733428]	uncertain significance	8	93816387	93816387	Human	10	alternate_id
151801302	CV1422740	single nucleotide variant	NM_153704.6(TMEM67):c.2162C>G (p.Pro721Arg)	COACH syndrome 1 [RCV002479435]\|Joubert syndrome [RCV001923738]\|TMEM67-related disorder [RCV004733419]	uncertain significance	8	93799679	93799679	Human	10	alternate_id
151801667	CV1431542	single nucleotide variant	NM_153704.6(TMEM67):c.1030C>T (p.Leu344Phe)	Joubert syndrome [RCV001924422]\|TMEM67-related disorder [RCV004538629]	uncertain significance	8	93781709	93781709	Human	4	alternate_id
151810993	CV1445050	single nucleotide variant	NM_153704.6(TMEM67):c.1845T>A (p.Cys615Ter)	Joubert syndrome [RCV001942012]\|TMEM67-related disorder [RCV004529066]	pathogenic\|likely pathogenic	8	93795972	93795972	Human	4	alternate_id
151799681	CV1447906	single nucleotide variant	NM_153704.6(TMEM67):c.1387C>T (p.Arg463Ter)	COACH syndrome 1 [RCV005050458]\|Joubert syndrome [RCV001920653]\|Nephronophthisis 11 [RCV003152777]\|TMEM67-related disorder [RCV004529044]	pathogenic	8	93786321	93786321	Human	10	alternate_id
151725676	CV1479080	single nucleotide variant	NM_153704.6(TMEM67):c.1928G>A (p.Arg643Gln)	COACH syndrome 1 [RCV002503360]\|Inborn genetic diseases [RCV005278903]\|Joubert syndrome [RCV002050975]\|TMEM67-related disorder [RCV004733387]	uncertain significance	8	93797201	93797201	Human	11	alternate_id
151808859	CV1483345	single nucleotide variant	NM_153704.6(TMEM67):c.2323A>G (p.Ile775Val)	COACH syndrome 1 [RCV002490238]\|Inborn genetic diseases [RCV002555684]\|Joubert syndrome [RCV001937721]\|TMEM67-related disorder [RCV004733409]\|not provided [RCV002282644]	uncertain significance	8	93804762	93804762	Human	11	alternate_id
8556161	CV16417	single nucleotide variant	NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr)	COACH syndrome 1 [RCV000001445]\|COACH syndrome 1 [RCV001536092]\|COACH syndrome 1 [RCV005357054]\|Joubert syndrome 6 [RCV000001446]\|Joubert syndrome [RCV000821785]\|Joubert syndrome and related disorders [RCV001804708]\|Meckel syndrome, type 3 [RCV000995902]\|TMEM67- ... (more) related disorder [RCV003315221]\|not provided [RCV001310635]	pathogenic\|likely pathogenic	8	93808898	93808898	Human	10	alternate_id
8556166	CV16422	single nucleotide variant	NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg)	COACH syndrome 1 [RCV000763610]\|COACH syndrome 1 [RCV005041963]\|COACH syndrome 1 [RCV005357055]\|Congenital ocular coloboma [RCV000627004]\|Inborn genetic diseases [RCV000623857]\|Joubert syndrome 6 [RCV000001452]\|Joubert syndrome [RCV000415055]\|Joubert syndrome [RCV000534533]\|Nephronophthisis 11 [RCV0 ... (more) 00001451]\|Nephronophthisis [RCV000234823]\|RHYNS syndrome [RCV001197497]\|TMEM67-related disorder [RCV000283682]\|not provided [RCV000479077]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	8	93795970	93795970	Human	38	alternate_id
156346610	CV1868388	single nucleotide variant	NM_153704.6(TMEM67):c.1893G>C (p.Gln631His)	COACH syndrome 1 [RCV005050707]\|Inborn genetic diseases [RCV004963364]\|Joubert syndrome [RCV003064554]\|TMEM67-related disorder [RCV004733563]	uncertain significance	8	93797166	93797166	Human	11	alternate_id
156135534	CV1901881	single nucleotide variant	NM_153704.6(TMEM67):c.1048G>A (p.Glu350Lys)	Joubert syndrome [RCV003082001]\|TMEM67-related disorder [RCV004733579]	uncertain significance	8	93781727	93781727	Human	4	alternate_id
10049901	CV191108	single nucleotide variant	NM_153704.6(TMEM67):c.1078A>G (p.Thr360Ala)	Joubert syndrome 1 [RCV000988094]\|Joubert syndrome [RCV001409831]\|TMEM67-related disorder [RCV004539607]\|not provided [RCV001356583]\|not specified [RCV000174181]	benign\|likely benign\|uncertain significance	8	93782407	93782407	Human	4	alternate_id
156303612	CV1933651	single nucleotide variant	NM_153704.6(TMEM67):c.1160T>G (p.Ile387Ser)	Joubert syndrome [RCV002629377]\|TMEM67-related disorder [RCV004733601]	uncertain significance	8	93785250	93785250	Human	4	alternate_id
156328553	CV1953172	single nucleotide variant	NM_153704.6(TMEM67):c.1338T>G (p.Asp446Glu)	Joubert syndrome [RCV002579864]\|TMEM67-related disorder [RCV004534121]	likely pathogenic\|uncertain significance	8	93786272	93786272	Human	4	alternate_id
156118833	CV2107450	single nucleotide variant	NM_153704.6(TMEM67):c.2036A>G (p.Glu679Gly)	Inborn genetic diseases [RCV004966165]\|Joubert syndrome [RCV002914077]\|TMEM67-related disorder [RCV004733543]	uncertain significance	8	93797406	93797406	Human	5	alternate_id
10408837	CV212653	single nucleotide variant	NM_153704.6(TMEM67):c.1426C>T (p.Pro476Ser)	Joubert syndrome [RCV001086776]\|TMEM67-related disorder [RCV004732779]\|not provided [RCV000200007]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	93787857	93787857	Human	4	alternate_id
10448716	CV214278	single nucleotide variant	NM_153704.6(TMEM67):c.1073C>T (p.Pro358Leu)	Joubert syndrome 6 [RCV000201590]\|Joubert syndrome [RCV005222828]\|TMEM67-related disorder [RCV004528990]	pathogenic\|likely pathogenic	8	93782402	93782402	Human	5	alternate_id
11636089	CV269753	single nucleotide variant	NM_153704.6(TMEM67):c.1700A>G (p.Tyr567Cys)	COACH syndrome 1 [RCV005044533]\|Intellectual disability [RCV001252367]\|Joubert syndrome [RCV000702895]\|TMEM67-related disorder [RCV004732822]\|not provided [RCV000262993]\|not specified [RCV005238842]	conflicting interpretations of pathogenicity\|uncertain significance	8	93795434	93795434	Human	12	alternate_id
401933773	CV2799448	single nucleotide variant	NM_153704.6(TMEM67):c.2017G>A (p.Val673Ile)	TMEM67-related disorder [RCV004534275]	uncertain significance	8	93797387	93797387	Human		trait , alternate_id
401902464	CV2801896	microsatellite	NM_153704.6(TMEM67):c.1083_1084del (p.Glu361fs)	TMEM67-related disorder [RCV004534199]	likely pathogenic	8	93782409	93782410	Human		trait , alternate_id
401926009	CV2803216	duplication	NM_153704.6(TMEM67):c.2759dup (p.Tyr920Ter)	TMEM67-related disorder [RCV004527976]	likely pathogenic	8	93809881	93809882	Human		trait , alternate_id
11612221	CV315531	single nucleotide variant	NM_153704.6(TMEM67):c.2299G>A (p.Val767Ile)	COACH syndrome 1 [RCV001334627]\|COACH syndrome 1 [RCV002481247]\|Ciliopathy [RCV002272216]\|Inborn genetic diseases [RCV004022084]\|Joubert syndrome 6 [RCV000348098]\|Joubert syndrome [RCV001296712]\|Meckel syndrome, type 3 [RCV000289258]\|Nephronophthisis 11 [RCV000405776]\|TMEM67 ... (more) TMEM67-related disorder [RCV004732859]\|not provided [RCV005425945]	uncertain significance	8	93803661	93803661	Human	12	alternate_id
408371465	CV3503907	single nucleotide variant	NM_153704.6(TMEM67):c.2074G>A (p.Val692Ile)	TMEM67-related disorder [RCV004724715]	uncertain significance	8	93797444	93797444	Human		trait , alternate_id
408378939	CV3503955	single nucleotide variant	NM_153704.6(TMEM67):c.1132T>G (p.Cys378Gly)	TMEM67-related disorder [RCV004728191]	uncertain significance	8	93785222	93785222	Human		trait , alternate_id
408378574	CV3505351	single nucleotide variant	NM_153704.6(TMEM67):c.1497T>G (p.Asp499Glu)	TMEM67-related disorder [RCV004728031]	uncertain significance	8	93787928	93787928	Human		trait , alternate_id
408382871	CV3506092	single nucleotide variant	NM_153704.6(TMEM67):c.2623C>G (p.His875Asp)	TMEM67-related disorder [RCV004730209]	uncertain significance	8	93809123	93809123	Human		trait , alternate_id
408379320	CV3506758	indel	NM_153704.6(TMEM67):c.493_499delinsCCTTAT (p.Ala165fs)	TMEM67-related disorder [RCV004728302]	pathogenic	8	93763928	93763934	Human		trait , alternate_id
408367889	CV3507374	single nucleotide variant	NM_153704.6(TMEM67):c.2294A>G (p.Gln765Arg)	TMEM67-related disorder [RCV004733673]	uncertain significance	8	93803656	93803656	Human		trait , alternate_id
408367903	CV3507608	single nucleotide variant	NM_153704.6(TMEM67):c.1268A>G (p.Asn423Ser)	TMEM67-related disorder [RCV004733687]	uncertain significance	8	93785358	93785358	Human		trait , alternate_id
408368071	CV3511494	single nucleotide variant	NM_153704.6(TMEM67):c.1404A>G (p.Ile468Met)	TMEM67-related disorder [RCV004733800]	uncertain significance	8	93786338	93786338	Human		trait , alternate_id
408368005	CV3511851	single nucleotide variant	NM_153704.6(TMEM67):c.2399C>G (p.Thr800Ser)	TMEM67-related disorder [RCV004733811]	uncertain significance	8	93804838	93804838	Human		trait , alternate_id
408368195	CV3515177	deletion	NM_153704.6(TMEM67):c.1660_1661del (p.Met554fs)	Joubert syndrome [RCV005221029]\|TMEM67-related disorder [RCV004733896]	pathogenic\|likely pathogenic	8	93793282	93793283	Human	4	alternate_id
408368096	CV3515400	single nucleotide variant	NM_153704.6(TMEM67):c.1439A>G (p.Asn480Ser)	TMEM67-related disorder [RCV004733903]	uncertain significance	8	93787870	93787870	Human		trait , alternate_id
13522647	CV489341	single nucleotide variant	NM_153704.6(TMEM67):c.2009C>T (p.Thr670Ile)	COACH syndrome 1 [RCV001333010]\|COACH syndrome 1 [RCV002476285]\|Joubert syndrome [RCV001208674]\|TMEM67-related disorder [RCV004732951]\|not provided [RCV000591997]	uncertain significance	8	93797379	93797379	Human	10	alternate_id
13533122	CV511772	single nucleotide variant	NM_153704.6(TMEM67):c.1714G>A (p.Ala572Thr)	Inborn genetic diseases [RCV000624890]\|Joubert syndrome 6 [RCV000680126]\|Joubert syndrome [RCV001855314]\|TMEM67-related disorder [RCV004732979]\|not specified [RCV001821759]	likely pathogenic\|uncertain significance	8	93795448	93795448	Human	6	alternate_id
14735245	CV637489	single nucleotide variant	NM_153704.6(TMEM67):c.1379G>C (p.Arg460Thr)	COACH syndrome 1 [RCV002487823]\|Joubert syndrome 6 [RCV001161607]\|Joubert syndrome [RCV000819500]\|Meckel syndrome, type 3 [RCV001161606]\|Nephronophthisis 11 [RCV001161605]\|TMEM67-related disorder [RCV004733056]\|not provided [RCV000999055]\|not specified [RCV00315 ... (more) 5320]	uncertain significance	8	93786313	93786313	Human	10	alternate_id
8591183	CV71401	single nucleotide variant	NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser)	COACH syndrome 1 [RCV002477175]\|Joubert syndrome 6 [RCV000201777]\|Joubert syndrome [RCV000560903]\|Meckel syndrome, type 3 [RCV000050175]\|Meckel-Gruber syndrome [RCV000114240]\|TMEM67-related disorder [RCV000778866]\|not provided [RCV001267954]	pathogenic\|likely pathogenic	8	93781725	93781725	Human	10	alternate_id
8617510	CV71422	deletion	NM_153704.6(TMEM67):c.579_580del (p.Gly195fs)	COACH syndrome 1 [RCV004795991]\|Joubert syndrome 6 [RCV000194151]\|Joubert syndrome [RCV000636962]\|Joubert syndrome and related disorders [RCV003478992]\|Meckel syndrome, type 3 [RCV000050196]\|TMEM67-related disorder [RCV000279833]\|not provided [RCV000514413]	pathogenic\|likely pathogenic	8	93765574	93765575	Human	10	alternate_id
26894100	CV835151	single nucleotide variant	NM_153704.6(TMEM67):c.1822C>G (p.Arg608Gly)	COACH syndrome 1 [RCV005049744]\|Inborn genetic diseases [RCV004963030]\|Joubert syndrome [RCV001047514]\|TMEM67-related disorder [RCV004733124]	likely benign\|uncertain significance	8	93795949	93795949	Human	11	alternate_id
28910812	CV900155	single nucleotide variant	NM_153704.6(TMEM67):c.1976G>A (p.Arg659Gln)	Joubert syndrome 6 [RCV001161721]\|Joubert syndrome [RCV001859047]\|Meckel syndrome, type 3 [RCV001161722]\|Nephronophthisis 11 [RCV001161720]\|TMEM67-related disorder [RCV004528400]\|not provided [RCV005367735]	uncertain significance	8	93797346	93797346	Human	7	alternate_id
126760208	CV992958	single nucleotide variant	NM_153704.6(TMEM67):c.1495G>T (p.Asp499Tyr)	COACH syndrome 1 [RCV002493580]\|Inborn genetic diseases [RCV002541900]\|Joubert syndrome [RCV001299726]\|TMEM67-related disorder [RCV004733239]	uncertain significance	8	93787926	93787926	Human	11	alternate_id
156435887	CV1937217	indel	NM_153704.6(TMEM67):c.1066-4_1066-3delinsAT	Joubert syndrome [RCV003105081]	uncertain significance	8	93782391	93782392	Human		name
151786784	CV1339949	insertion	NM_153704.6(TMEM67):c.2323-5_2323-4insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCGGAGAGGGAGCGGGCGCCCGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGACCTATTCTCTTTTT	Joubert syndrome [RCV001894622]	uncertain significance	8	93804745	93804746	Human	1	name

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