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Items: 1 to 100 of 178

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr8:94797492
GRCh38:
Chr8:93785264
TMEM67P311S, P392SMeckel syndrome, type 3Uncertain significance
(Feb 23, 2023)		criteria provided, single submitter
2.
GRCh37:
Chr8:94817006
GRCh38:
Chr8:93804778
TMEM67L699S, L780SMeckel syndrome, type 3Uncertain significance
(Mar 30, 2022)		criteria provided, single submitter
3.
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
4.
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
5.
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
6.
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
7.
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
8.
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
9.
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
10.
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
11.
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
12.
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
13.
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
14.
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
15.
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
16.
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
17.
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
18.
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
19.
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
20.
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
21.
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
22.
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
23.
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
24.
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
25.
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
26.
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
27.
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
28.
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
29.
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
30.
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
31.
GRCh37:
Chr8:94767230
GRCh38:
Chr8:93755002
TMEM67L30Fnot provided, 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,
Inborn genetic diseases		Uncertain significance
(Jun 27, 2022)		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, K331QJoubert 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
(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:
Chr8:94816993
GRCh38:
Chr8:93804765
TMEM67S695T, S776TMeckel syndrome, type 3Pathogenic
(Apr 29, 2021)		no assertion criteria provided
43.
GRCh37:
Chr8:94817106
GRCh38:
Chr8:93804878
TMEM67Joubert syndrome and related disorders, Familial aplasia of the vermis, Meckel-Gruber syndrome
Pathogenic
(Dec 14, 2022)		criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr8:94815894
GRCh38:
Chr8:93803666
TMEM67L688fs, L769fsMeckel syndrome, type 3Pathogenic
(Apr 29, 2021)		no assertion criteria provided
45.
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
46.
GRCh37:
Chr8:94809573
GRCh38:
Chr8:93797345
TMEM67R578*, R659*Meckel-Gruber syndrome, Familial aplasia of the vermis, Bardet-Biedl syndrome 14,
COACH syndrome 1, Nephronophthisis 11, Joubert syndrome 6,
RHYNS syndrome, Meckel syndrome, type 3, not provided
Pathogenic/Likely pathogenic
(Feb 24, 2022)		criteria provided, multiple submitters, no conflicts
47.
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
48.
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
49.
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
50.
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
51.
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
52.
GRCh37:
Chr8:94821282
GRCh38:
Chr8:93809054
TMEM67not provided, Meckel syndrome, type 3, Joubert syndrome 6
Conflicting interpretations of pathogenicity
(Dec 17, 2022)		criteria provided, conflicting interpretations
53.
GRCh37:
Chr8:94798484
GRCh38:
Chr8:93786256
TMEM67R360H, R441HFamilial aplasia of the vermis, Meckel-Gruber syndrome, Meckel syndrome, type 3,
not provided		Likely pathogenic
(Oct 7, 2022)		criteria provided, multiple submitters, no conflicts
54.
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
55.
GRCh37:
Chr8:94828705
GRCh38:
Chr8:93816477
TMEM67Meckel syndrome, type 3, Joubert syndrome 6, Nephronophthisis 11
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
56.
GRCh37:
Chr8:94829502
GRCh38:
Chr8:93817274
TMEM67Joubert syndrome 6, Meckel syndrome, type 3, Nephronophthisis 11
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
57.
GRCh37:
Chr8:94829441
GRCh38:
Chr8:93817213
TMEM67Meckel syndrome, type 3, Joubert syndrome 6, Nephronophthisis 11
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
58.
GRCh37:
Chr8:94829370
GRCh38:
Chr8:93817142
TMEM67Joubert syndrome 6, Meckel syndrome, type 3, Nephronophthisis 11
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
59.
GRCh37:
Chr8:94830356
GRCh38:
Chr8:93818128
TMEM67Meckel syndrome, type 3, Joubert syndrome 6, Nephronophthisis 11
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
60.
GRCh37:
Chr8:94830104
GRCh38:
Chr8:93817876
TMEM67Joubert syndrome 6, Meckel syndrome, type 3, Nephronophthisis 11
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
61.
GRCh37:
Chr8:94829260
GRCh38:
Chr8:93817032
TMEM67Meckel syndrome, type 3, Joubert syndrome 6, Nephronophthisis 11
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
62.
GRCh37:
Chr8:94829192
GRCh38:
Chr8:93816964
TMEM67Joubert syndrome 6, Meckel syndrome, type 3, Nephronophthisis 11
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
63.
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
64.
GRCh37:
Chr8:94828959
GRCh38:
Chr8:93816731
TMEM67Nephronophthisis 11, Meckel syndrome, type 3, Joubert syndrome 6
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
65.
GRCh37:
Chr8:94829779
GRCh38:
Chr8:93817551
TMEM67Nephronophthisis 11, Meckel syndrome, type 3, Joubert syndrome 6
Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
66.
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
67.
GRCh37:
Chr8:94815825
GRCh38:
Chr8:93803597
TMEM67Meckel syndrome, type 3, Joubert syndrome 6, Nephronophthisis 11
Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
68.
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
69.
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
70.
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
71.
GRCh37:
Chr8:94768064
GRCh38:
Chr8:93755836
TMEM67Joubert syndrome 6, Nephronophthisis 11, Meckel syndrome, type 3
Uncertain significance
(Feb 9, 2018)		criteria provided, single submitter
72.
GRCh37:
Chr8:94809574
GRCh38:
Chr8:93797346
TMEM67R578Q, R659QMeckel syndrome, type 3, Meckel-Gruber syndrome, Familial aplasia of the vermis,
Joubert syndrome 6, Nephronophthisis 11		Uncertain significance
(Aug 13, 2022)		criteria provided, multiple submitters, no conflicts
73.
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
74.
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
75.
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
76.
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
77.
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
78.
GRCh37:
Chr8:94767334
GRCh38:
Chr8:93755106
TMEM67Meckel-Gruber syndrome, Familial aplasia of the vermis, COACH syndrome 1,
Joubert syndrome 6, Meckel syndrome, type 3, RHYNS syndrome,
Nephronophthisis 11, Bardet-Biedl syndrome 14		Likely benign
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
79.
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
80.
GRCh37:
Chr8:94817024
GRCh38:
Chr8:93804796
TMEM67G705A, G786AMeckel syndrome, type 3Likely pathogeniccriteria provided, single submitter
81.
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
82.
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
83.
GRCh37:
Chr8:94798541
GRCh38:
Chr8:93786313
TMEM67R379T, R460Tnot provided, COACH syndrome 1, RHYNS syndrome,
Joubert syndrome 6, Bardet-Biedl syndrome 14, Meckel syndrome, type 3,
Nephronophthisis 11, Nephronophthisis 11, Meckel syndrome, type 3,
Joubert syndrome 6, Familial aplasia of the vermisMeckel-Gruber syndrome,
not specified, ...see more		Uncertain significance
(Feb 17, 2023)		criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr8:94768015
GRCh38:
Chr8:93755787
TMEM67C78YMeckel syndrome, type 3Uncertain significance
(Sep 1, 2017)		criteria provided, single submitter
85.
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
86.
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
87.
GRCh37:
Chr8:94809607
GRCh38:
Chr8:93797379
TMEM67T589I, T670IMeckel-Gruber syndrome, Familial aplasia of the vermis, Meckel syndrome, type 3,
Nephronophthisis 11, Joubert syndrome 6, RHYNS syndrome,
COACH syndrome 1, Bardet-Biedl syndrome 14, not provided,
COACH syndrome 1		Uncertain significance
(Aug 31, 2022)		criteria provided, multiple submitters, no conflicts
88.
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
89.
GRCh37:
Chr8:94784818
GRCh38:
Chr8:93772590
TMEM67G137A, G218Anot specified, not provided, Nephronophthisis 11,
Meckel syndrome, type 3, Bardet-Biedl syndrome 14, RHYNS syndrome,
Nephronophthisis 11, COACH syndrome 1, Joubert syndrome 6,
Meckel syndrome, type 3, Joubert syndrome 6RHYNS syndrome,
Meckel-Gruber syndrome, Familial aplasia of the vermis, COACH syndrome 1,
...see more		Uncertain significance
(Mar 31, 2023)		criteria provided, multiple submitters, no conflicts
90.
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
91.
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
92.
GRCh37:
Chr8:94830333
GRCh38:
Chr8:93818105
TMEM67Meckel syndrome, type 3, Nephronophthisis 11, Joubert syndrome 6
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
93.
GRCh37:
Chr8:94830114
GRCh38:
Chr8:93817886
TMEM67Nephronophthisis 11, Meckel syndrome, type 3, Joubert syndrome 6
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
94.
GRCh37:
Chr8:94829622
GRCh38:
Chr8:93817394
TMEM67Meckel syndrome, type 3, Nephronophthisis 11, Joubert syndrome 6
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
95.
GRCh37:
Chr8:94829621
GRCh38:
Chr8:93817393
TMEM67Joubert syndrome 6, Nephronophthisis 11, Meckel syndrome, type 3
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
96.
GRCh37:
Chr8:94829533
GRCh38:
Chr8:93817305
TMEM67Joubert syndrome 6, Nephronophthisis 11, Meckel syndrome, type 3
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
97.
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
98.
GRCh37:
Chr8:94828980
GRCh38:
Chr8:93816752
TMEM67Nephronophthisis 11, Joubert syndrome 6, Meckel syndrome, type 3
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
99.
GRCh37:
Chr8:94828898
GRCh38:
Chr8:93816670
TMEM67Nephronophthisis 11, Joubert syndrome 6, Meckel syndrome, type 3
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
100.
GRCh37:
Chr8:94828859
GRCh38:
Chr8:93816631
TMEM67Nephronophthisis 11, Joubert syndrome 6, Meckel syndrome, type 3
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
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