U.S. flag

An official website of the United States government

Display optionsSort by RelevanceDownload
Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 148

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr8:94805484
Chr8:94811986
GRCh38:
Chr8:93793256
Chr8:93799758
TMEM67, TMEM67G545E, G464EJoubert syndrome 6Pathogenic
(Jan 1, 2007)		no assertion criteria provided
2.
GRCh37:
Chr8:94776140-94776141
GRCh38:
Chr8:93763912-93763913
TMEM67F160fs, F79fsMeckel syndrome, type 3, RHYNS syndrome, COACH syndrome 1,
Bardet-Biedl syndrome 14, Nephronophthisis 11, Joubert syndrome 6,
Meckel syndrome, type 3		Pathogenic/Likely pathogenic
(Mar 21, 2022)		criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr8:94817123
GRCh38:
Chr8:93804895
TMEM67Bardet-Biedl syndrome 14, COACH syndrome 1, Joubert syndrome 6,
Meckel syndrome, type 3, RHYNS syndrome, Nephronophthisis 11,
Meckel-Gruber syndrome, Familial aplasia of the vermis		Likely benign
(Oct 2, 2022)		criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr8:94792886
GRCh38:
Chr8:93780658
TMEM67Bardet-Biedl syndrome 14, COACH syndrome 1, Joubert syndrome 6,
Meckel syndrome, type 3, RHYNS syndrome, Nephronophthisis 11,
Meckel-Gruber syndrome, Familial aplasia of the vermis		Likely benign
(Oct 24, 2022)		criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr8:94768107
GRCh38:
Chr8:93755879
TMEM67Bardet-Biedl syndrome 14, COACH syndrome 1, Joubert syndrome 6,
Meckel syndrome, type 3, RHYNS syndrome, Nephronophthisis 11,
Meckel-Gruber syndrome, Familial aplasia of the vermis		Likely benign
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr8:94798563
GRCh38:
Chr8:93786335
TMEM67COACH syndrome 1, Meckel syndrome, type 3, Joubert syndrome 6,
RHYNS syndrome, Bardet-Biedl syndrome 14, Nephronophthisis 11,
Meckel-Gruber syndrome, Familial aplasia of the vermis		Likely benign
(Jan 18, 2022)		criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr8:94777794
GRCh38:
Chr8:93765566
TMEM67COACH syndrome 1, Meckel syndrome, type 3, Joubert syndrome 6,
RHYNS syndrome, Bardet-Biedl syndrome 14, Nephronophthisis 11,
Inborn genetic diseases, Meckel-Gruber syndrome, Familial aplasia of the vermis
Likely benign
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr8:94793870
GRCh38:
Chr8:93781642
TMEM67Meckel-Gruber syndrome, Familial aplasia of the vermis, COACH syndrome 1,
RHYNS syndrome, Bardet-Biedl syndrome 14, Meckel syndrome, type 3,
Nephronophthisis 11, Joubert syndrome 6		Likely benign
(Mar 3, 2022)		criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr8:94822009
GRCh38:
Chr8:93809781
TMEM67Meckel-Gruber syndrome, Familial aplasia of the vermis, COACH syndrome 1,
Joubert syndrome 6, RHYNS syndrome, Bardet-Biedl syndrome 14,
Nephronophthisis 11, Meckel syndrome, type 3		Likely benign
(Aug 19, 2022)		criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr8:94784804
GRCh38:
Chr8:93772576
TMEM67COACH syndrome 1, Joubert syndrome 6, Meckel syndrome, type 3,
Bardet-Biedl syndrome 14, RHYNS syndrome, Nephronophthisis 11,
Meckel-Gruber syndrome, Familial aplasia of the vermis		Likely benign
(Jun 24, 2022)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr8:94821057
GRCh38:
Chr8:93808829
TMEM67Meckel-Gruber syndrome, Familial aplasia of the vermis, COACH syndrome 1,
Meckel syndrome, type 3, Bardet-Biedl syndrome 14, RHYNS syndrome,
Joubert syndrome 6, Nephronophthisis 11		Likely benign
(Sep 13, 2022)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr8:94807619-94807620
GRCh38:
Chr8:93795391-93795392
TMEM67Meckel-Gruber syndrome, Familial aplasia of the vermis, COACH syndrome 1,
RHYNS syndrome, Meckel syndrome, type 3, Joubert syndrome 6,
Bardet-Biedl syndrome 14, Nephronophthisis 11		Likely benign
(Oct 10, 2022)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr8:94807624
GRCh38:
Chr8:93795396
TMEM67Meckel-Gruber syndrome, Familial aplasia of the vermis, COACH syndrome 1,
RHYNS syndrome, Meckel syndrome, type 3, Joubert syndrome 6,
Bardet-Biedl syndrome 14, Nephronophthisis 11		Likely benign
(Sep 17, 2022)		criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr8:94827529
GRCh38:
Chr8:93815301
TMEM67RHYNS syndrome, Bardet-Biedl syndrome 14, Nephronophthisis 11,
COACH syndrome 1, Joubert syndrome 6, Meckel syndrome, type 3,
Meckel-Gruber syndrome, Familial aplasia of the vermis		Likely benign
(Aug 19, 2022)		criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr8:94821078
GRCh38:
Chr8:93808850
TMEM67C736Y, C817YRHYNS syndrome, Bardet-Biedl syndrome 14, Nephronophthisis 11,
COACH syndrome 1, Joubert syndrome 6, Meckel syndrome, type 3,
Meckel-Gruber syndrome, Familial aplasia of the vermis		Uncertain significance
(Dec 21, 2021)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr8:94822091
GRCh38:
Chr8:93809863
TMEM67M914V, M833VRHYNS syndrome, Bardet-Biedl syndrome 14, Nephronophthisis 11,
COACH syndrome 1, Joubert syndrome 6, Meckel syndrome, type 3,
Meckel-Gruber syndrome, Familial aplasia of the vermis		Uncertain significance
(Apr 22, 2022)		criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr8:94793158
GRCh38:
Chr8:93780930
TMEM67V228G, V309GRHYNS syndrome, Bardet-Biedl syndrome 14, Nephronophthisis 11,
COACH syndrome 1, Joubert syndrome 6, Meckel syndrome, type 3,
Meckel-Gruber syndrome, Familial aplasia of the vermis		Uncertain significance
(Apr 11, 2022)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr8:94767292
GRCh38:
Chr8:93755064
TMEM67D50EMeckel syndrome, type 3, RHYNS syndrome, COACH syndrome 1,
Joubert syndrome 6, Bardet-Biedl syndrome 14, Nephronophthisis 11,
Familial aplasia of the vermis, Meckel-Gruber syndrome		Uncertain significance
(Jul 19, 2022)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr8:94768065
GRCh38:
Chr8:93755837
TMEM67I95VCOACH syndrome 1, RHYNS syndrome, Joubert syndrome 6,
Meckel syndrome, type 3, Bardet-Biedl syndrome 14, Nephronophthisis 11,
Familial aplasia of the vermis, Meckel-Gruber syndrome		Uncertain significance
(Jun 20, 2022)		criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr8:94792828
GRCh38:
Chr8:93780600
TMEM67A160G, A241GCOACH syndrome 1, RHYNS syndrome, Joubert syndrome 6,
Meckel syndrome, type 3, Bardet-Biedl syndrome 14, Nephronophthisis 11,
Meckel-Gruber syndrome, Familial aplasia of the vermis		Uncertain significance
(Aug 22, 2022)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr8:94828615
GRCh38:
Chr8:93816387
TMEM67R894C, R975CMeckel syndrome, type 3, COACH syndrome 1, RHYNS syndrome,
Joubert syndrome 6, Bardet-Biedl syndrome 14, Nephronophthisis 11,
Familial aplasia of the vermis, Meckel-Gruber syndrome		Uncertain significance
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr8:94792992
GRCh38:
Chr8:93780764
TMEM67Meckel syndrome, type 3, COACH syndrome 1, RHYNS syndrome,
Joubert syndrome 6, Bardet-Biedl syndrome 14, Nephronophthisis 11,
Familial aplasia of the vermis, Meckel-Gruber syndrome		Conflicting interpretations of pathogenicity
(Sep 16, 2022)		criteria provided, conflicting interpretations
23.
GRCh37:
Chr8:94821362
GRCh38:
Chr8:93809134
TMEM67N797K, N878KMeckel syndrome, type 3, COACH syndrome 1, RHYNS syndrome,
Joubert syndrome 6, Bardet-Biedl syndrome 14, Nephronophthisis 11,
Kidney disorder, Familial aplasia of the vermis, Meckel-Gruber syndrome
Uncertain significance
(Jul 19, 2022)		criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr8:94770724
GRCh38:
Chr8:93758496
TMEM67E109GMeckel syndrome, type 3, COACH syndrome 1, RHYNS syndrome,
Joubert syndrome 6, Bardet-Biedl syndrome 14, Nephronophthisis 11,
Familial aplasia of the vermis, Meckel-Gruber syndrome		Uncertain significance
(Jul 21, 2022)		criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr8:94817002
GRCh38:
Chr8:93804774
TMEM67L698V, L779VMeckel syndrome, type 3, COACH syndrome 1, RHYNS syndrome,
Joubert syndrome 6, Bardet-Biedl syndrome 14, Nephronophthisis 11,
Familial aplasia of the vermis, Meckel-Gruber syndrome		Uncertain significance
(Jun 20, 2022)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr8:94777864
GRCh38:
Chr8:93765636
TMEM67Y133C, Y214CMeckel syndrome, type 3, COACH syndrome 1, RHYNS syndrome,
Joubert syndrome 6, Bardet-Biedl syndrome 14, Nephronophthisis 11,
Familial aplasia of the vermis, Meckel-Gruber syndrome		Uncertain significance
(Aug 5, 2022)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr8:94828646
GRCh38:
Chr8:93816418
TMEM67S985F, S904FInborn genetic diseases, Familial aplasia of the vermis, Meckel-Gruber syndrome,
COACH syndrome 1, Bardet-Biedl syndrome 14, Nephronophthisis 11,
Joubert syndrome 6, Meckel syndrome, type 3, RHYNS syndrome
Uncertain significance
(Mar 19, 2022)		criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr8:94811907
GRCh38:
Chr8:93799679
TMEM67P640R, P721RFamilial aplasia of the vermis, Meckel-Gruber syndrome, COACH syndrome 1,
Bardet-Biedl syndrome 14, Nephronophthisis 11, Joubert syndrome 6,
Meckel syndrome, type 3, RHYNS syndrome		Uncertain significance
(Jul 5, 2022)		criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr8:94805538
GRCh38:
Chr8:93793310
TMEM67Familial aplasia of the vermis, Meckel-Gruber syndrome, COACH syndrome 1,
Bardet-Biedl syndrome 14, Nephronophthisis 11, Joubert syndrome 6,
Meckel syndrome, type 3, RHYNS syndrome		Conflicting interpretations of pathogenicity
(Sep 13, 2022)		criteria provided, conflicting interpretations
30.
GRCh37:
Chr8:94767230
GRCh38:
Chr8:93755002
TMEM67L30FBardet-Biedl syndrome 14, COACH syndrome 1, RHYNS syndrome,
Nephronophthisis 11, Joubert syndrome 6, Meckel syndrome, type 3,
not provided, Inborn genetic diseases, Familial aplasia of the vermis,
Meckel-Gruber syndrome		Uncertain significance
(Jun 27, 2022)		criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr8:94798549
GRCh38:
Chr8:93786321
TMEM67R382*, R463*Meckel-Gruber syndrome, Familial aplasia of the vermis, TMEM67-related condition,
Nephronophthisis 11		Pathogenic
(Jun 30, 2023)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr8:94816990
GRCh38:
Chr8:93804762
TMEM67I694V, I775VInborn genetic diseases, RHYNS syndrome, Bardet-Biedl syndrome 14,
Nephronophthisis 11, COACH syndrome 1, Joubert syndrome 6,
Meckel syndrome, type 3, Meckel-Gruber syndrome, Familial aplasia of the vermis,
not provided		Uncertain significance
(Nov 30, 2022)		criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr8:94767217
GRCh38:
Chr8:93754989
TMEM67F25LRHYNS syndrome, Bardet-Biedl syndrome 14, Nephronophthisis 11,
COACH syndrome 1, Joubert syndrome 6, Meckel syndrome, type 3,
Meckel-Gruber syndrome, Familial aplasia of the vermis		Uncertain significance
(Jul 18, 2022)		criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr8:94793898
GRCh38:
Chr8:93781670
TMEM67K250Q, K331QBardet-Biedl syndrome 14, COACH syndrome 1, Joubert syndrome 6,
Nephronophthisis 11, Meckel syndrome, type 3, RHYNS syndrome,
Familial aplasia of the vermis, Meckel-Gruber syndrome		Uncertain significance
(Jul 19, 2022)		criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr8:94767150
GRCh38:
Chr8:93754922
TMEM67T3MJoubert syndrome 6, COACH syndrome 1, Meckel syndrome, type 3,
RHYNS syndrome, Bardet-Biedl syndrome 14, Nephronophthisis 11,
Familial aplasia of the vermis, Meckel-Gruber syndrome		Uncertain significance
(Jun 27, 2022)		criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr8:94809701
GRCh38:
Chr8:93797473
TMEM67Joubert syndrome 6, COACH syndrome 1, Meckel syndrome, type 3,
RHYNS syndrome, Bardet-Biedl syndrome 14, Nephronophthisis 11,
Familial aplasia of the vermis, Meckel-Gruber syndrome		Uncertain significance
(Aug 31, 2022)		criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr8:94784857
GRCh38:
Chr8:93772629
TMEM67Q231R, Q150RFamilial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 3,
Joubert syndrome 6, RHYNS syndrome, COACH syndrome 1,
Bardet-Biedl syndrome 14, Nephronophthisis 11		Uncertain significance
(Sep 13, 2022)		criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr8:94808178
GRCh38:
Chr8:93795950
TMEM67R527H, R608HJoubert syndrome 6, Meckel syndrome, type 3, Bardet-Biedl syndrome 14,
Nephronophthisis 11, COACH syndrome 1, RHYNS syndrome,
Meckel-Gruber syndrome, Familial aplasia of the vermis, not provided
Uncertain significance
(Jul 6, 2022)		criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr8:94797493
GRCh38:
Chr8:93785265
TMEM67P392R, P311RJoubert syndrome 6, Meckel syndrome, type 3, Bardet-Biedl syndrome 14,
Nephronophthisis 11, COACH syndrome 1, RHYNS syndrome,
Meckel-Gruber syndrome, Familial aplasia of the vermis		Uncertain significance
(May 24, 2022)		criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr8:94809429
GRCh38:
Chr8:93797201
TMEM67R643Q, R562QJoubert syndrome 6, Meckel syndrome, type 3, Bardet-Biedl syndrome 14,
Nephronophthisis 11, COACH syndrome 1, RHYNS syndrome,
Meckel-Gruber syndrome, Familial aplasia of the vermis		Uncertain significance
(Aug 22, 2022)		criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr8:94817041
GRCh38:
Chr8:93804813
TMEM67R711G, R792GCOACH syndrome 1, Bardet-Biedl syndrome 14, Meckel syndrome, type 3,
RHYNS syndrome, COACH syndrome 1, Nephronophthisis 11,
Joubert syndrome 6, Joubert syndrome 6		Conflicting interpretations of pathogenicity
(Apr 12, 2022)		criteria provided, conflicting interpretations
42.
GRCh37:
Chr8:94793114
GRCh38:
Chr8:93780886
TMEM67Meckel syndrome, type 3, RHYNS syndrome, COACH syndrome 1,
Bardet-Biedl syndrome 14, Nephronophthisis 11, Joubert syndrome 6,
Familial aplasia of the vermis, Meckel-Gruber syndrome		Likely benign
(Sep 1, 2022)		criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr8:94767980
GRCh38:
Chr8:93755752
TMEM67Nephronophthisis 11Uncertain significancecriteria provided, single submitter
44.
GRCh37:
Chr8:94777647
GRCh38:
Chr8:93765419
TMEM67E174Q, E93QNephronophthisis 11Uncertain significancecriteria provided, single submitter
45.
GRCh37:
Chr8:94809573
GRCh38:
Chr8:93797345
TMEM67R578*, R659*COACH syndrome 1, Bardet-Biedl syndrome 14, Meckel syndrome, type 3,
RHYNS syndrome, Joubert syndrome 6, Nephronophthisis 11,
not provided, TMEM67-related condition, Familial aplasia of the vermis,
Meckel-Gruber syndrome		Pathogenic/Likely pathogenic
(Apr 7, 2023)		criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr8:94767173
GRCh38:
Chr8:93754945
TMEM67M11VMeckel syndrome, type 3, Bardet-Biedl syndrome 14, Nephronophthisis 11,
Joubert syndrome 6, RHYNS syndrome, COACH syndrome 1,
Familial aplasia of the vermis, Meckel-Gruber syndrome, not provided
Uncertain significance
(Aug 12, 2022)		criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr8:94767279
GRCh38:
Chr8:93755051
TMEM67P46QMeckel syndrome, type 3, Bardet-Biedl syndrome 14, Nephronophthisis 11,
Joubert syndrome 6, RHYNS syndrome, COACH syndrome 1,
Familial aplasia of the vermis, Meckel-Gruber syndrome		Uncertain significance
(Aug 22, 2022)		criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr8:94784844
GRCh38:
Chr8:93772616
TMEM67A227P, A146PFamilial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 3,
COACH syndrome 1, Joubert syndrome 6, Nephronophthisis 11,
Bardet-Biedl syndrome 14, RHYNS syndrome, COACH syndrome 1
Uncertain significance
(Nov 12, 2021)		criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr8:94817105
GRCh38:
Chr8:93804877
TMEM67A732V, A813VFamilial aplasia of the vermis, Meckel-Gruber syndrome, Bardet-Biedl syndrome 14,
Nephronophthisis 11, COACH syndrome 1, RHYNS syndrome,
Joubert syndrome 6, Meckel syndrome, type 3		Uncertain significance
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr8:94800154
GRCh38:
Chr8:93787926
TMEM67D418Y, D499YBardet-Biedl syndrome 14, Nephronophthisis 11, Meckel syndrome, type 3,
RHYNS syndrome, Joubert syndrome 6, COACH syndrome 1,
Inborn genetic diseases, Familial aplasia of the vermis, Meckel-Gruber syndrome
Uncertain significance
(Oct 24, 2022)		criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr8:94777678
GRCh38:
Chr8:93765450
TMEM67C103Y, C184YNephronophthisis 11Likely pathogenic
(Feb 1, 2020)		criteria provided, single submitter
52.
GRCh37:
Chr8:94793960-94793970
GRCh38:
Chr8:93781732-93781742
TMEM67Nephronophthisis 11Pathogenic
(Feb 1, 2020)		criteria provided, single submitter
53.
GRCh37:
Chr8:94767185
GRCh38:
Chr8:93754957
TMEM67S15TRHYNS syndrome, Nephronophthisis 11, COACH syndrome 1,
Meckel syndrome, type 3, Joubert syndrome 6, Bardet-Biedl syndrome 14,
Meckel-Gruber syndrome, Familial aplasia of the vermis, not specified
Conflicting interpretations of pathogenicity
(Oct 13, 2022)		criteria provided, conflicting interpretations
54.
GRCh37:
Chr8:94828705
GRCh38:
Chr8:93816477
TMEM67Meckel syndrome, type 3, Joubert syndrome 6, Nephronophthisis 11
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
55.
GRCh37:
Chr8:94829502
GRCh38:
Chr8:93817274
TMEM67Joubert syndrome 6, Meckel syndrome, type 3, Nephronophthisis 11
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
56.
GRCh37:
Chr8:94829441
GRCh38:
Chr8:93817213
TMEM67Meckel syndrome, type 3, Joubert syndrome 6, Nephronophthisis 11
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
57.
GRCh37:
Chr8:94829370
GRCh38:
Chr8:93817142
TMEM67Joubert syndrome 6, Meckel syndrome, type 3, Nephronophthisis 11
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
58.
GRCh37:
Chr8:94830356
GRCh38:
Chr8:93818128
TMEM67Meckel syndrome, type 3, Joubert syndrome 6, Nephronophthisis 11
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
59.
GRCh37:
Chr8:94830104
GRCh38:
Chr8:93817876
TMEM67Joubert syndrome 6, Meckel syndrome, type 3, Nephronophthisis 11
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
60.
GRCh37:
Chr8:94829260
GRCh38:
Chr8:93817032
TMEM67Meckel syndrome, type 3, Joubert syndrome 6, Nephronophthisis 11
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
61.
GRCh37:
Chr8:94829192
GRCh38:
Chr8:93816964
TMEM67Joubert syndrome 6, Meckel syndrome, type 3, Nephronophthisis 11
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
62.
GRCh37:
Chr8:94827684
GRCh38:
Chr8:93815456
TMEM67Meckel syndrome, type 3, Joubert syndrome 6, Meckel-Gruber syndrome,
Familial aplasia of the vermis, Nephronophthisis 11		Conflicting interpretations of pathogenicity
(Aug 1, 2022)		criteria provided, conflicting interpretations
63.
GRCh37:
Chr8:94828959
GRCh38:
Chr8:93816731
TMEM67Nephronophthisis 11, Meckel syndrome, type 3, Joubert syndrome 6
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
64.
GRCh37:
Chr8:94829779
GRCh38:
Chr8:93817551
TMEM67Nephronophthisis 11, Meckel syndrome, type 3, Joubert syndrome 6
Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
65.
GRCh37:
Chr8:94815868
GRCh38:
Chr8:93803640
TMEM67E679Q, E760QJoubert syndrome 6, Meckel syndrome, type 3, Nephronophthisis 11
Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
66.
GRCh37:
Chr8:94815825
GRCh38:
Chr8:93803597
TMEM67Meckel syndrome, type 3, Joubert syndrome 6, Nephronophthisis 11
Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
67.
GRCh37:
Chr8:94805438
GRCh38:
Chr8:93793210
TMEM67V449I, V530IJoubert syndrome 6, COACH syndrome 1, Meckel syndrome, type 3,
RHYNS syndrome, Bardet-Biedl syndrome 14, Nephronophthisis 11,
Familial aplasia of the vermis, Meckel-Gruber syndrome, Nephronophthisis 11,
Meckel syndrome, type 3, Joubert syndrome 6 ...see more		Uncertain significance
(Jul 19, 2022)		criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr8:94777666
GRCh38:
Chr8:93765438
TMEM67T99I, T180IJoubert syndrome 6, Meckel syndrome, type 3, Nephronophthisis 11
Uncertain significance
(Apr 28, 2017)		criteria provided, single submitter
69.
GRCh37:
Chr8:94822125
GRCh38:
Chr8:93809897
TMEM67Nephronophthisis 11, Joubert syndrome 6, Meckel syndrome, type 3,
Meckel-Gruber syndrome, Familial aplasia of the vermis		Conflicting interpretations of pathogenicity
(Apr 1, 2022)		criteria provided, conflicting interpretations
70.
GRCh37:
Chr8:94768064
GRCh38:
Chr8:93755836
TMEM67Joubert syndrome 6, Nephronophthisis 11, Meckel syndrome, type 3
Uncertain significance
(Feb 9, 2018)		criteria provided, single submitter
71.
GRCh37:
Chr8:94809574
GRCh38:
Chr8:93797346
TMEM67R578Q, R659QTMEM67-related condition, Familial aplasia of the vermis, Meckel-Gruber syndrome,
Joubert syndrome 6, Nephronophthisis 11, Meckel syndrome, type 3
Uncertain significance
(May 18, 2023)		criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr8:94768051
GRCh38:
Chr8:93755823
TMEM67N90SNephronophthisis 11, Meckel syndrome, type 3, Meckel-Gruber syndrome,
Familial aplasia of the vermis, Joubert syndrome 6		Uncertain significance
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr8:94815881
GRCh38:
Chr8:93803653
TMEM67R764Q, R683QMeckel syndrome, type 3, Joubert syndrome 6, Nephronophthisis 11
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
74.
GRCh37:
Chr8:94808136
GRCh38:
Chr8:93795908
TMEM67K513R, K594RNephronophthisis 11, Joubert syndrome 6, Meckel syndrome, type 3,
Meckel-Gruber syndrome, Familial aplasia of the vermis		Uncertain significance
(Aug 9, 2022)		criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr8:94767229
GRCh38:
Chr8:93755001
TMEM67F29LRHYNS syndrome, Bardet-Biedl syndrome 14, Nephronophthisis 11,
COACH syndrome 1, Joubert syndrome 6, Meckel syndrome, type 3,
Familial aplasia of the vermis, Meckel-Gruber syndrome		Uncertain significance
(Apr 9, 2022)		criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr8:94811867
GRCh38:
Chr8:93799639
TMEM67A627T, A708TRHYNS syndrome, Bardet-Biedl syndrome 14, Nephronophthisis 11,
COACH syndrome 1, Joubert syndrome 6, Meckel syndrome, type 3,
Familial aplasia of the vermis, Meckel-Gruber syndrome		Uncertain significance
(Jul 24, 2022)		criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr8:94767334
GRCh38:
Chr8:93755106
TMEM67Meckel-Gruber syndrome, Familial aplasia of the vermis, Meckel syndrome, type 3,
RHYNS syndrome, Nephronophthisis 11, COACH syndrome 1,
Bardet-Biedl syndrome 14, Joubert syndrome 6		Likely benign
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr8:94821062
GRCh38:
Chr8:93808834
TMEM67COACH syndrome 1, Joubert syndrome 6, RHYNS syndrome,
Nephronophthisis 11, Meckel syndrome, type 3, Bardet-Biedl syndrome 14,
Familial aplasia of the vermis, Meckel-Gruber syndrome		Benign/Likely benign
(Aug 21, 2022)		criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr8:94768108
GRCh38:
Chr8:93755880
TMEM67not provided, Meckel-Gruber syndrome, Familial aplasia of the vermis,
Meckel syndrome, type 3, COACH syndrome 1, RHYNS syndrome,
Nephronophthisis 11, Bardet-Biedl syndrome 14, Joubert syndrome 6
Benign/Likely benign
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr8:94811982
GRCh38:
Chr8:93799754
TMEM67I665T, I746TCOACH syndrome 1, Joubert syndrome 6, Meckel syndrome, type 3,
Bardet-Biedl syndrome 14, Nephronophthisis 11, RHYNS syndrome,
Meckel-Gruber syndrome, Familial aplasia of the vermis		Uncertain significance
(Jul 5, 2022)		criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr8:94798541
GRCh38:
Chr8:93786313
TMEM67R379T, R460TCOACH syndrome 1, Meckel syndrome, type 3, Bardet-Biedl syndrome 14,
Nephronophthisis 11, RHYNS syndrome, Joubert syndrome 6,
Meckel-Gruber syndrome, Familial aplasia of the vermis, not provided,
Joubert syndrome 6, Nephronophthisis 11Meckel syndrome, type 3,
not specified, ...see more		Uncertain significance
(Feb 17, 2023)		criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr8:94777641
GRCh38:
Chr8:93765413
TMEM67R172*, R91*RHYNS syndrome, Meckel syndrome, type 3, Nephronophthisis 11,
Joubert syndrome 6, Bardet-Biedl syndrome 14, COACH syndrome 1,
Meckel-Gruber syndrome, Familial aplasia of the vermis, Meckel syndrome, type 3,
Meckel-Gruber syndrome, Iris colobomaNystagmus,
Generalized hypotonia, Cerebellar vermis hypoplasia, ...see more		Pathogenic/Likely pathogenic
(Jun 23, 2023)		criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr8:94817077
GRCh38:
Chr8:93804849
TMEM67E723*, E804*COACH syndrome 1, Meckel syndrome, type 3, Joubert syndrome 6,
Nephronophthisis 11, Bardet-Biedl syndrome 14, RHYNS syndrome,
not provided		Pathogenic
(Jun 30, 2021)		criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr8:94809607
GRCh38:
Chr8:93797379
TMEM67T589I, T670IJoubert syndrome 6, RHYNS syndrome, Nephronophthisis 11,
Meckel syndrome, type 3, Bardet-Biedl syndrome 14, COACH syndrome 1,
Meckel-Gruber syndrome, Familial aplasia of the vermis, not provided,
COACH syndrome 1		Uncertain significance
(Aug 31, 2022)		criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr8:94777861
GRCh38:
Chr8:93765633
TMEM67R213H, R132HCOACH syndrome 1, Joubert syndrome 6, RHYNS syndrome,
Meckel syndrome, type 3, Bardet-Biedl syndrome 14, Nephronophthisis 11,
Familial aplasia of the vermis, Meckel-Gruber syndrome, Joubert syndrome 6
Conflicting interpretations of pathogenicity
(Apr 26, 2022)		criteria provided, conflicting interpretations
86.
GRCh37:
Chr8:94784818
GRCh38:
Chr8:93772590
TMEM67G137A, G218AMeckel-Gruber syndrome, Familial aplasia of the vermis, not specified,
Meckel syndrome, type 3, Meckel syndrome, type 3, RHYNS syndrome,
Bardet-Biedl syndrome 14, Joubert syndrome 6, Nephronophthisis 11,
COACH syndrome 1, RHYNS syndromenot provided,
Joubert syndrome 6, Nephronophthisis 11, COACH syndrome 1,
...see more		Uncertain significance
(Oct 1, 2023)		criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr8:94768006
GRCh38:
Chr8:93755778
TMEM67G75EInborn genetic diseases, COACH syndrome 1, RHYNS syndrome,
Joubert syndrome 6, Nephronophthisis 11, Meckel syndrome, type 3,
Bardet-Biedl syndrome 14, Familial aplasia of the vermis, Meckel-Gruber syndrome
Uncertain significance
(Nov 18, 2022)		criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr8:94797621
GRCh38:
Chr8:93785393
TMEM67COACH syndrome 1, RHYNS syndrome, Meckel syndrome, type 3,
Bardet-Biedl syndrome 14, Joubert syndrome 6, Nephronophthisis 11,
not specified, Meckel-Gruber syndrome, Familial aplasia of the vermis
Likely benign
(Oct 24, 2022)		criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr8:94830333
GRCh38:
Chr8:93818105
TMEM67Meckel syndrome, type 3, Nephronophthisis 11, Joubert syndrome 6
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
90.
GRCh37:
Chr8:94830114
GRCh38:
Chr8:93817886
TMEM67Nephronophthisis 11, Meckel syndrome, type 3, Joubert syndrome 6
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
91.
GRCh37:
Chr8:94829622
GRCh38:
Chr8:93817394
TMEM67Meckel syndrome, type 3, Nephronophthisis 11, Joubert syndrome 6
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
92.
GRCh37:
Chr8:94829621
GRCh38:
Chr8:93817393
TMEM67Joubert syndrome 6, Nephronophthisis 11, Meckel syndrome, type 3
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
93.
GRCh37:
Chr8:94829533
GRCh38:
Chr8:93817305
TMEM67Joubert syndrome 6, Nephronophthisis 11, Meckel syndrome, type 3
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
94.
GRCh37:
Chr8:94829532
GRCh38:
Chr8:93817304
TMEM67Nephronophthisis 11, Joubert syndrome 6, Meckel syndrome, type 3
Benign/Likely benign
(Jan 13, 2018)		criteria provided, single submitter
95.
GRCh37:
Chr8:94828980
GRCh38:
Chr8:93816752
TMEM67Nephronophthisis 11, Joubert syndrome 6, Meckel syndrome, type 3
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
96.
GRCh37:
Chr8:94828898
GRCh38:
Chr8:93816670
TMEM67Nephronophthisis 11, Joubert syndrome 6, Meckel syndrome, type 3
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
97.
GRCh37:
Chr8:94828859
GRCh38:
Chr8:93816631
TMEM67Nephronophthisis 11, Joubert syndrome 6, Meckel syndrome, type 3
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
98.
GRCh37:
Chr8:94828667
GRCh38:
Chr8:93816439
TMEM67R992I, R911INephronophthisis 11, Joubert syndrome 6, Meckel syndrome, type 3
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
99.
GRCh37:
Chr8:94828620
GRCh38:
Chr8:93816392
TMEM67Familial aplasia of the vermis, Meckel-Gruber syndrome, Nephronophthisis 11,
Meckel syndrome, type 3, Joubert syndrome 6		Conflicting interpretations of pathogenicity
(May 21, 2022)		criteria provided, conflicting interpretations
100.
GRCh37:
Chr8:94828616
GRCh38:
Chr8:93816388
TMEM67R894H, R975HMeckel syndrome, type 3, Meckel-Gruber syndrome, Familial aplasia of the vermis,
Nephronophthisis 11, Joubert syndrome 6		Uncertain significance
(Sep 22, 2022)		criteria provided, multiple submitters, no conflicts
Display optionsSort by RelevanceDownload
Format
Items per page
Sort by
Choose Destination