| | TMEM216 | | Joubert syndrome 2, Meckel syndrome, type 2 | Benign
(Sep 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:61165311
- GRCh38:
- Chr11:61397839
| TMEM216 | S38P, S99P | Joubert syndrome | Uncertain significance
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:61165236
- GRCh38:
- Chr11:61397764
| TMEM216 | | Joubert syndrome | Uncertain significance
(Aug 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:61165352
- GRCh38:
- Chr11:61397880
| TMEM216 | | Joubert syndrome | Likely benign
(Mar 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:61161349
- GRCh38:
- Chr11:61393877
| TMEM216 | | Joubert syndrome 2 | Uncertain significance
(Apr 14, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr11:61160129
- GRCh38:
- Chr11:61392657
| TMEM216 | A9V | Joubert syndrome | Uncertain significance
(Jul 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:61165375
- GRCh38:
- Chr11:61397903
| TMEM216 | M120T, M59T | not provided, Inborn genetic diseases, Joubert syndrome
| Uncertain significance
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:61165244
- GRCh38:
- Chr11:61397772
| TMEM216 | | Joubert syndrome 2, Meckel syndrome, type 2, Joubert syndrome
| Likely pathogenic
(Aug 18, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:61166296
- GRCh38:
- Chr11:61398824
| TMEM216 | | Joubert syndrome 2, Meckel syndrome, type 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:61165398
- GRCh38:
- Chr11:61397926
| TMEM216 | C128R, C67R | Joubert syndrome, Meckel syndrome, type 2, Joubert syndrome 2
| Uncertain significance
(Feb 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:61160018
- GRCh38:
- Chr11:61392546
| TMEM216 | | Joubert syndrome 2, Meckel syndrome, type 2 | Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:61166273
- GRCh38:
- Chr11:61398801
| TMEM216 | | Meckel syndrome, type 2, Joubert syndrome 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:61166141
- GRCh38:
- Chr11:61398669
| TMEM216 | | Meckel syndrome, type 2, Joubert syndrome 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:61166125
- GRCh38:
- Chr11:61398653
| TMEM216 | | Meckel syndrome, type 2, Joubert syndrome 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:61159840
- GRCh38:
- Chr11:61392368
| TMEM216 | | Meckel syndrome, type 2, Joubert syndrome 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:61159819
- GRCh38:
- Chr11:61392347
| TMEM216 | | Meckel syndrome, type 2, Joubert syndrome 2 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:61166051
- GRCh38:
- Chr11:61398579
| TMEM216 | | Meckel syndrome, type 2, Joubert syndrome 2 | Conflicting interpretations of pathogenicity
(Jun 29, 2017) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:61165938
- GRCh38:
- Chr11:61398466
| TMEM216 | | Meckel syndrome, type 2, Joubert syndrome 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:61160708
- GRCh38:
- Chr11:61393236
| TMEM216 | R14W | Joubert syndrome | Uncertain significance
(Aug 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:61160114
- GRCh38:
- Chr11:61392642
| TMEM216 | R4Q | Joubert syndrome | Uncertain significance
(Sep 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:61165270
- GRCh38:
- Chr11:61397798
| TMEM216 | R85Q, R24Q | Joubert syndrome | Uncertain significance
(Mar 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:61161458
- GRCh38:
- Chr11:61393986
| TMEM216 | | Joubert syndrome | Likely benign
(Feb 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:61165340
- GRCh38:
- Chr11:61397868
| TMEM216 | | Joubert syndrome | Likely benign
(Oct 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:61160791
- GRCh38:
- Chr11:61393319
| TMEM216 | | Joubert syndrome | Likely benign
(Oct 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:61160725
- GRCh38:
- Chr11:61393253
| TMEM216 | | Joubert syndrome 2, not provided, Meckel syndrome, type 2,
Joubert syndrome | Conflicting interpretations of pathogenicity
(Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:61160781
- GRCh38:
- Chr11:61393309
| TMEM216 | E38G | not provided, Joubert syndrome | Uncertain significance
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:61165754
- GRCh38:
- Chr11:61398282
| TMEM216 | | not provided | Uncertain significance
(Apr 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:61165732-61165734
- GRCh38:
- Chr11:61398260-61398262
| TMEM216 | | Joubert syndrome 2, Meckel syndrome, type 2 | Uncertain significance
(May 23, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:61165332-61165333
- GRCh38:
- Chr11:61397860-61397861
| TMEM216 | Y106fs, Y45fs | Joubert syndrome 2, Meckel syndrome, type 2 | Likely pathogenic
(May 22, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:61161355
- GRCh38:
- Chr11:61393883
| TMEM216 | | Joubert syndrome 2, Meckel syndrome, type 2, Joubert syndrome
| Likely pathogenic
(Sep 5, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:61165236-61165237
- GRCh38:
- Chr11:61397764-61397765
| TMEM216 | | Joubert syndrome 2, Meckel syndrome, type 2 | Uncertain significance
(Mar 28, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:61160104
- GRCh38:
- Chr11:61392632
| TMEM216 | M1V | Joubert syndrome 2, Meckel syndrome, type 2 | Uncertain significance
(Mar 27, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:61160105
- GRCh38:
- Chr11:61392633
| TMEM216 | M1T | Joubert syndrome 2, Meckel syndrome, type 2 | Uncertain significance
(Mar 27, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:61160094-61160113
- GRCh38:
- Chr11:61392622-61392641
| TMEM216 | M1fs | Joubert syndrome 2, Meckel syndrome, type 2 | Uncertain significance
(Mar 27, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:61165732
- GRCh38:
- Chr11:61398260
| TMEM216 | | Joubert syndrome 2, Meckel syndrome, type 2 | Uncertain significance
(Mar 21, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:61160105
- GRCh38:
- Chr11:61392633
| TMEM216 | M1K | Joubert syndrome 2, Meckel syndrome, type 2, Joubert syndrome
| Uncertain significance
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:61165352
- GRCh38:
- Chr11:61397880
| TMEM216 | Y51*, Y112* | Joubert syndrome 2, Meckel syndrome, type 2 | Likely pathogenic
(Nov 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:61165353-61165354
- GRCh38:
- Chr11:61397881-61397882
| TMEM216 | L53fs, L114fs | Joubert syndrome 2, Meckel syndrome, type 2 | Uncertain significance
(Jul 25, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:61165732
- GRCh38:
- Chr11:61398260
| TMEM216 | | Joubert syndrome 2, Meckel syndrome, type 2 | Uncertain significance
(Jun 13, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:61161380-61161384
- GRCh38:
- Chr11:61393908-61393912
| TMEM216 | N55fs | Joubert syndrome 2, Meckel syndrome, type 2 | Likely pathogenic
(May 9, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:61160152-61160155
- GRCh38:
- Chr11:61392680-61392683
| TMEM216 | | Joubert syndrome 2, Meckel syndrome, type 2, Joubert syndrome
| Likely benign
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:61165359
- GRCh38:
- Chr11:61397887
| TMEM216 | R115C, R54C | not provided, Joubert syndrome | Uncertain significance
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:61160791
- GRCh38:
- Chr11:61393319
| TMEM216 | | Joubert syndrome, not provided | Conflicting interpretations of pathogenicity
(Oct 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:61160110
- GRCh38:
- Chr11:61392638
| TMEM216 | P3T | Joubert syndrome, not provided | Uncertain significance
(Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:61165421
- GRCh38:
- Chr11:61397949
| TMEM216 | | Joubert syndrome | Likely benign
(Oct 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:61160688-61160702
- GRCh38:
- Chr11:61393216-61393230
| TMEM216 | | not provided, Joubert syndrome | Likely pathogenic
(May 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:61160701
- GRCh38:
- Chr11:61393229
| TMEM216 | | Meckel syndrome, type 2, Joubert syndrome 2, Joubert syndrome
| Likely pathogenic
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:61161442
- GRCh38:
- Chr11:61393970
| TMEM216 | F76fs, F15fs | Meckel syndrome, type 2, Joubert syndrome 2 | Likely pathogenic
(Aug 4, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr11:61161441
- GRCh38:
- Chr11:61393969
| TMEM216 | F76fs, F15fs | Joubert syndrome 2, not provided, Meckel syndrome, type 2
| Likely pathogenic
(Aug 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:61160139
- GRCh38:
- Chr11:61392667
| TMEM216 | | Meckel syndrome, type 2, Joubert syndrome 2, Meckel syndrome, type 2,
Joubert syndrome 2, Joubert syndrome | Likely pathogenic
(Mar 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:61161441-61161442
- GRCh38:
- Chr11:61393969-61393970
| TMEM216 | G16fs, G77fs | Joubert syndrome, Meckel syndrome, type 2, Joubert syndrome 2
| Pathogenic/Likely pathogenic
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:61166306
- GRCh38:
- Chr11:61398834
| TMEM216 | | Joubert syndrome 2, Meckel syndrome, type 2 | Benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:61166192
- GRCh38:
- Chr11:61398720
| TMEM216 | | Joubert syndrome 2, not provided, Meckel syndrome, type 2
| Benign/Likely benign
(May 23, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:61166120
- GRCh38:
- Chr11:61398648
| TMEM216 | | Joubert syndrome 2, Meckel syndrome, type 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:61166083
- GRCh38:
- Chr11:61398611
| TMEM216 | | Joubert syndrome 2, Meckel syndrome, type 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:61165995
- GRCh38:
- Chr11:61398523
| TMEM216 | | Meckel syndrome, type 2, Joubert syndrome 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:61165855
- GRCh38:
- Chr11:61398383
| TMEM216 | | Joubert syndrome 2, Meckel syndrome, type 2 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:61165841
- GRCh38:
- Chr11:61398369
| TMEM216 | | Joubert syndrome 2, Meckel syndrome, type 2 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:61165436
- GRCh38:
- Chr11:61397964
| TMEM216 | | Joubert syndrome, Meckel syndrome, type 2, Joubert syndrome 2,
not provided | Conflicting interpretations of pathogenicity
(Nov 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:61165374
- GRCh38:
- Chr11:61397902
| TMEM216 | M120V, M59V | Inborn genetic diseases, Joubert syndrome, not specified,
Meckel syndrome, type 2, Joubert syndrome 2 | Conflicting interpretations of pathogenicity
(Oct 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:61165360
- GRCh38:
- Chr11:61397888
| TMEM216 | R115H, R54H | not specified, Inborn genetic diseases, Meckel syndrome, type 2,
not provided, Joubert syndrome, Joubert syndrome 2
| Uncertain significance
(Jul 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:61165305
- GRCh38:
- Chr11:61397833
| TMEM216 | F36I, F97I | Meckel syndrome, type 2, not provided, Joubert syndrome,
Joubert syndrome 2 | Uncertain significance
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:61160080
- GRCh38:
- Chr11:61392608
| TMEM216 | | not specified, Meckel syndrome, type 2, Joubert syndrome 2
| Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:61160013
- GRCh38:
- Chr11:61392541
| TMEM216 | | Joubert syndrome 2, Meckel syndrome, type 2 | Conflicting interpretations of pathogenicity
(Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:61159976
- GRCh38:
- Chr11:61392504
| TMEM216 | | Joubert syndrome 2, Meckel syndrome, type 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:61159969
- GRCh38:
- Chr11:61392497
| TMEM216 | | Joubert syndrome 2, Meckel syndrome, type 2 | Conflicting interpretations of pathogenicity
(Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:61159862
- GRCh38:
- Chr11:61392390
| TMEM216 | | Joubert syndrome 2, Meckel syndrome, type 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:61161359
- GRCh38:
- Chr11:61393887
| TMEM216 | V47A | Meckel syndrome, type 2, Joubert syndrome 2, Meckel syndrome, type 2,
Joubert syndrome, not provided, Joubert syndrome 2
| Uncertain significance
(Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:61165293
- GRCh38:
- Chr11:61397821
| TMEM216 | V32M, V93M | Joubert syndrome, not provided | Uncertain significance
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:61165269
- GRCh38:
- Chr11:61397797
| TMEM216 | | not provided, not specified, Meckel syndrome, type 2,
Joubert syndrome, Joubert syndrome 2 | Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:61160686
- GRCh38:
- Chr11:61393214
| TMEM216 | | not specified, not provided, Joubert syndrome 2,
Joubert syndrome, Meckel syndrome, type 2 | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:61160080
- GRCh38:
- Chr11:61392608
| TMEM216 | | not specified, Meckel syndrome, type 2, Joubert syndrome 2
| Benign/Likely benign
(Jan 13, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:61165769
- GRCh38:
- Chr11:61398297
| TMEM216 | | not specified, not provided, Meckel syndrome, type 2,
Joubert syndrome 2 | Conflicting interpretations of pathogenicity
(Apr 3, 2020) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:61161435
- GRCh38:
- Chr11:61393963
| TMEM216 | | Joubert syndrome 2, not specified, Joubert syndrome
| Conflicting interpretations of pathogenicity
(Oct 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:61161436
- GRCh38:
- Chr11:61393964
| TMEM216 | R12C, R73C | Abnormality of the nervous system, not provided, Joubert syndrome,
Joubert syndrome 2 | Conflicting interpretations of pathogenicity
(Aug 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:61165414
- GRCh38:
- Chr11:61397942
| TMEM216 | L133*, L72* | Joubert syndrome 2, not provided, Meckel syndrome, type 2,
Joubert syndrome 2, Joubert syndrome | Pathogenic/Likely pathogenic
(Apr 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:61161430
- GRCh38:
- Chr11:61393958
| TMEM216 | V10L, V71L | not specified, Joubert syndrome | Conflicting interpretations of pathogenicity
(Nov 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:61160108
- GRCh38:
- Chr11:61392636
| TMEM216 | L2P | not provided, Meckel syndrome, type 2, Joubert syndrome 2,
Joubert syndrome | Conflicting interpretations of pathogenicity
(Oct 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:61160102
- GRCh38:
- Chr11:61392630
| TMEM216 | | not specified, not provided, Meckel syndrome, type 2,
Joubert syndrome 2, Joubert syndrome | Benign
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:61165741
- GRCh38:
- Chr11:61398269
| TMEM216 | R147T, R86T | not specified, Meckel syndrome, type 2, Joubert syndrome,
not provided, Joubert syndrome 1, Joubert syndrome 2
| Benign
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:61165280
- GRCh38:
- Chr11:61397808
| TMEM216 | | not provided, Meckel syndrome, type 2, Joubert syndrome,
not specified, Joubert syndrome 2 | Benign
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:61165269
- GRCh38:
- Chr11:61397797
| TMEM216 | R24*, R85* | Joubert syndrome 2, Meckel syndrome, type 2, TMEM216-Related Disorders,
not provided, Joubert syndrome, Joubert syndrome 2
| Pathogenic/Likely pathogenic
(Jan 27, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:61161437
- GRCh38:
- Chr11:61393965
| TMEM216 | R73H, R12H | Joubert syndrome | Pathogenic
(Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:61161437
- GRCh38:
- Chr11:61393965
| TMEM216 | R73L, R12L | Inborn genetic diseases, TMEM216-Related Disorders, Joubert syndrome 2,
Meckel syndrome, type 2, not provided, Meckel syndrome, type 2,
Joubert syndrome, Joubert syndrome 2 | Pathogenic
(Dec 1, 2022) | criteria provided, multiple submitters, no conflicts |