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Items: 1 to 100 of 196

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr8:94777642
GRCh38:
Chr8:93765414
TMEM67R172L, R91LJoubert syndrome 6Uncertain significance
(Nov 10, 2023)
criteria provided, single submitter
2.
GRCh37:
Chr8:94793928
GRCh38:
Chr8:93781700
TMEM67G260R, G341RJoubert syndrome 6Uncertain significance
(Nov 10, 2023)
criteria provided, single submitter
3.
GRCh37:
Chr8:94805484
Chr8:94811986
GRCh38:
Chr8:93793256
Chr8:93799758
TMEM67, TMEM67G545E, G464EJoubert syndrome 6Pathogenic
(Jan 1, 2007)
no assertion criteria provided
4.
GRCh37:
Chr8:94816988
GRCh38:
Chr8:93804760
TMEM67Joubert syndrome 6Pathogeniccriteria provided, single submitter
5.
GRCh37:
Chr8:94807736-94811845
TMEM67Joubert syndrome 6Likely pathogenic
(Aug 4, 2023)
criteria provided, single submitter
6.
GRCh37:
Chr8:94807733
GRCh38:
Chr8:93795505
TMEM67K510E, K591EJoubert syndrome 6Likely pathogeniccriteria provided, single submitter
7.
GRCh37:
Chr8:94811897-94811898
GRCh38:
Chr8:93799669-93799670
TMEM67R637fs, R718fsJoubert syndrome 6Pathogenic
(Jul 21, 2023)
criteria provided, single submitter
8.
GRCh37:
Chr8:94822107
GRCh38:
Chr8:93809879
TMEM67F838Y, F919YJoubert syndrome 6Uncertain significancecriteria provided, single submitter
9.
GRCh37:
Chr8:94797559
GRCh38:
Chr8:93785331
TMEM67P333R, P414RJoubert syndrome 6Uncertain significance
(Sep 22, 2022)
criteria provided, single submitter
10.
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
11.
GRCh37:
Chr8:94770743
GRCh38:
Chr8:93758515
TMEM67I115MJoubert syndrome 6Uncertain significance
(Jan 19, 2022)
criteria provided, single submitter
12.
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
13.
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
14.
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
15.
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
16.
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
17.
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
18.
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
19.
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
20.
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
21.
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
22.
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
23.
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
24.
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
25.
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
26.
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
27.
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
28.
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
29.
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
30.
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
31.
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
32.
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
33.
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
34.
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
35.
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
36.
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
37.
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
38.
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
39.
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
40.
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
41.
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
42.
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
43.
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
44.
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
45.
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
46.
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
47.
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
48.
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
49.
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
50.
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
51.
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
52.
GRCh37:
Chr8:94768012
GRCh38:
Chr8:93755784
TMEM67S77*Joubert syndrome 6Pathogenic
(May 6, 2021)
criteria provided, single submitter
53.
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
54.
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
55.
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
56.
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
57.
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
58.
GRCh37:
Chr8:94776138
GRCh38:
Chr8:93763910
TMEM67S159P, S78PJoubert syndrome 6Likely pathogenic
(May 31, 2019)
no assertion criteria provided
59.
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
60.
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
61.
GRCh37:
Chr8:94770804
GRCh38:
Chr8:93758576
TMEM67R10T, V136LJoubert syndrome 6Likely pathogenicno assertion criteria provided
62.
GRCh37:
Chr8:94828705
GRCh38:
Chr8:93816477
TMEM67Meckel syndrome, type 3, Joubert syndrome 6, Nephronophthisis 11
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
63.
GRCh37:
Chr8:94829502
GRCh38:
Chr8:93817274
TMEM67Joubert syndrome 6, Meckel syndrome, type 3, Nephronophthisis 11
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
64.
GRCh37:
Chr8:94829441
GRCh38:
Chr8:93817213
TMEM67Meckel syndrome, type 3, Joubert syndrome 6, Nephronophthisis 11
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
65.
GRCh37:
Chr8:94829370
GRCh38:
Chr8:93817142
TMEM67Joubert syndrome 6, Meckel syndrome, type 3, Nephronophthisis 11
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
66.
GRCh37:
Chr8:94830356
GRCh38:
Chr8:93818128
TMEM67Meckel syndrome, type 3, Joubert syndrome 6, Nephronophthisis 11
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
67.
GRCh37:
Chr8:94830104
GRCh38:
Chr8:93817876
TMEM67Joubert syndrome 6, Meckel syndrome, type 3, Nephronophthisis 11
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
68.
GRCh37:
Chr8:94829260
GRCh38:
Chr8:93817032
TMEM67Meckel syndrome, type 3, Joubert syndrome 6, Nephronophthisis 11
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
69.
GRCh37:
Chr8:94829192
GRCh38:
Chr8:93816964
TMEM67Joubert syndrome 6, Meckel syndrome, type 3, Nephronophthisis 11
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
70.
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
71.
GRCh37:
Chr8:94828959
GRCh38:
Chr8:93816731
TMEM67Nephronophthisis 11, Meckel syndrome, type 3, Joubert syndrome 6
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
72.
GRCh37:
Chr8:94829779
GRCh38:
Chr8:93817551
TMEM67Nephronophthisis 11, Meckel syndrome, type 3, Joubert syndrome 6
Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
73.
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
74.
GRCh37:
Chr8:94815825
GRCh38:
Chr8:93803597
TMEM67Meckel syndrome, type 3, Joubert syndrome 6, Nephronophthisis 11
Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
75.
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
76.
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
77.
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
78.
GRCh37:
Chr8:94768064
GRCh38:
Chr8:93755836
TMEM67Joubert syndrome 6, Nephronophthisis 11, Meckel syndrome, type 3
Uncertain significance
(Feb 9, 2018)
criteria provided, single submitter
79.
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
80.
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
81.
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
82.
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
83.
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
84.
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
85.
GRCh37:
Chr8:94777851
GRCh38:
Chr8:93765623
TMEM67S129P, S210PJoubert syndrome 6Uncertain significance
(Dec 3, 2018)
criteria provided, single submitter
86.
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
87.
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
88.
GRCh37:
Chr8:94770708
GRCh38:
Chr8:93758480
TMEM67Joubert syndrome 6Likely pathogenic
(Jul 22, 2019)
criteria provided, single submitter
89.
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
90.
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
91.
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
92.
GRCh37:
Chr8:94805448
GRCh38:
Chr8:93793220
TMEM67G452E, G533EJoubert syndrome 6Uncertain significance
(May 15, 2019)
criteria provided, single submitter
93.
GRCh37:
Chr8:94807676
GRCh38:
Chr8:93795448
TMEM67A491T, A572TInborn genetic diseases, not specified, Familial aplasia of the vermis,
Meckel-Gruber syndrome, Joubert syndrome 6
Conflicting interpretations of pathogenicity
(Nov 23, 2021)
criteria provided, conflicting interpretations
94.
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
95.
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
96.
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
97.
GRCh37:
Chr8:94827547
GRCh38:
Chr8:93815319
TMEM67F846L, F927LJoubert syndrome 6Uncertain significance
(Jun 26, 2017)
criteria provided, single submitter
98.
GRCh37:
Chr8:94800080
GRCh38:
Chr8:93787852
TMEM67L393P, L474PJoubert syndrome 6Uncertain significance
(Jun 26, 2017)
criteria provided, single submitter
99.
GRCh37:
Chr8:94803552
GRCh38:
Chr8:93791324
TMEM67not specified, Joubert syndrome 6Conflicting interpretations of pathogenicity
(Jul 15, 2022)
criteria provided, conflicting interpretations
100.
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
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