| - GRCh37:
- Chr12:88505657
- GRCh38:
- Chr12:88111880
| CEP290 | | Bardet-Biedl syndrome 14 | Uncertain significance
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:88476955
- GRCh38:
- Chr12:88083178
| CEP290 | R1622H | not specified, Familial aplasia of the vermis, Meckel-Gruber syndrome,
Nephronophthisis, Leber congenital amaurosis 10, Joubert syndrome 5,
Senior-Loken syndrome 6, Bardet-Biedl syndrome 14, Meckel syndrome, type 4
| Uncertain significance
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:94776140-94776141
- GRCh38:
- Chr8:93763912-93763913
| TMEM67 | F160fs, F79fs | Meckel 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 |
| - GRCh37:
- Chr12:88483080
- GRCh38:
- Chr12:88089303
| CEP290 | R1253H | Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome,
Senior-Loken syndrome 6, Bardet-Biedl syndrome 14, Leber congenital amaurosis 10,
Meckel syndrome, type 4, Joubert syndrome 5, not specified
| Uncertain significance
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:88478468
- GRCh38:
- Chr12:88084691
| CEP290 | | Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome,
Senior-Loken syndrome 6, Bardet-Biedl syndrome 14, Leber congenital amaurosis 10,
Meckel syndrome, type 4, Joubert syndrome 5 | Likely benign
(Oct 21, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:94817123
- GRCh38:
- Chr8:93804895
| TMEM67 | | Bardet-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 |
| - GRCh37:
- Chr8:94792886
- GRCh38:
- Chr8:93780658
| TMEM67 | | Bardet-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 |
| - GRCh37:
- Chr12:88453812-88453814
- GRCh38:
- Chr12:88060035-88060037
| CEP290 | | Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome,
Joubert syndrome 5, Senior-Loken syndrome 6, Bardet-Biedl syndrome 14,
Leber congenital amaurosis 10, Meckel syndrome, type 4 | Likely benign
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:94768107
- GRCh38:
- Chr8:93755879
| TMEM67 | | Bardet-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 |
| - GRCh37:
- Chr12:88530406
- GRCh38:
- Chr12:88136629
| CEP290 | | Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome,
Joubert syndrome 5, Senior-Loken syndrome 6, Bardet-Biedl syndrome 14,
Leber congenital amaurosis 10, Meckel syndrome, type 4 | Likely benign
(Sep 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:88474191-88474192
- GRCh38:
- Chr12:88080414-88080415
| CEP290 | | Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome,
Joubert syndrome 5, Senior-Loken syndrome 6, Bardet-Biedl syndrome 14,
Leber congenital amaurosis 10, Meckel syndrome, type 4 | Likely benign
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:88444226
- GRCh38:
- Chr12:88050449
| CEP290 | | Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome,
Joubert syndrome 5, Senior-Loken syndrome 6, Bardet-Biedl syndrome 14,
Leber congenital amaurosis 10, Meckel syndrome, type 4 | Likely benign
(Jul 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:94798563
- GRCh38:
- Chr8:93786335
| TMEM67 | | COACH 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 |
| - GRCh37:
- Chr8:94777794
- GRCh38:
- Chr8:93765566
| TMEM67 | | COACH 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 |
| - GRCh37:
- Chr12:88525015-88525018
- GRCh38:
- Chr12:88131238-88131241
| CEP290 | | Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome,
Joubert syndrome 5, Senior-Loken syndrome 6, Bardet-Biedl syndrome 14,
Leber congenital amaurosis 10, Meckel syndrome, type 4 | Likely benign
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:88534970
- GRCh38:
- Chr12:88141193
| CEP290 | | Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome,
Joubert syndrome 5, Senior-Loken syndrome 6, Bardet-Biedl syndrome 14,
Leber congenital amaurosis 10, Meckel syndrome, type 4 | Likely benign
(Dec 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:88530402
- GRCh38:
- Chr12:88136625
| CEP290 | | Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome,
Joubert syndrome 5, Senior-Loken syndrome 6, Bardet-Biedl syndrome 14,
Leber congenital amaurosis 10, Meckel syndrome, type 4 | Likely benign
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:94793870
- GRCh38:
- Chr8:93781642
| TMEM67 | | Meckel-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 |
| - GRCh37:
- Chr12:88462407
- GRCh38:
- Chr12:88068630
| CEP290 | | Familial aplasia of the vermis, Meckel-Gruber syndrome, Nephronophthisis,
Joubert syndrome 5, Meckel syndrome, type 4, Senior-Loken syndrome 6,
Bardet-Biedl syndrome 14, Leber congenital amaurosis 10 | Likely benign
(Apr 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:88525014-88525015
- GRCh38:
- Chr12:88131237-88131238
| CEP290 | | Joubert syndrome 5, Meckel syndrome, type 4, Senior-Loken syndrome 6,
Bardet-Biedl syndrome 14, Leber congenital amaurosis 10, Familial aplasia of the vermis,
Meckel-Gruber syndrome, Nephronophthisis | Likely benign
(Jul 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:88447421
- GRCh38:
- Chr12:88053644
| CEP290 | | Joubert syndrome 5, Meckel syndrome, type 4, Senior-Loken syndrome 6,
Bardet-Biedl syndrome 14, Leber congenital amaurosis 10, Familial aplasia of the vermis,
Meckel-Gruber syndrome, Nephronophthisis | Likely benign
(Jan 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:94822009
- GRCh38:
- Chr8:93809781
| TMEM67 | | Meckel-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 |
| - GRCh37:
- Chr8:94784804
- GRCh38:
- Chr8:93772576
| TMEM67 | | COACH 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 |
| - GRCh37:
- Chr12:88473974
- GRCh38:
- Chr12:88080197
| CEP290 | | Joubert syndrome 5, Meckel syndrome, type 4, Senior-Loken syndrome 6,
Bardet-Biedl syndrome 14, Leber congenital amaurosis 10, Familial aplasia of the vermis,
Meckel-Gruber syndrome, Nephronophthisis | Likely benign
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:88457739
- GRCh38:
- Chr12:88063962
| CEP290 | | Joubert syndrome 5, Meckel syndrome, type 4, Senior-Loken syndrome 6,
Bardet-Biedl syndrome 14, Leber congenital amaurosis 10, Familial aplasia of the vermis,
Meckel-Gruber syndrome, Nephronophthisis | Likely benign
(Oct 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:88477738
- GRCh38:
- Chr12:88083961
| CEP290 | | Nephronophthisis, Familial aplasia of the vermis, Meckel-Gruber syndrome,
Senior-Loken syndrome 6, Leber congenital amaurosis 10, Joubert syndrome 5,
Bardet-Biedl syndrome 14, Meckel syndrome, type 4 | Likely benign
(Aug 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:94821057
- GRCh38:
- Chr8:93808829
| TMEM67 | | Meckel-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 |
| - GRCh37:
- Chr12:88532979
- GRCh38:
- Chr12:88139202
| CEP290 | | Familial aplasia of the vermis, Meckel-Gruber syndrome, Nephronophthisis,
Bardet-Biedl syndrome 14, Senior-Loken syndrome 6, Leber congenital amaurosis 10,
Meckel syndrome, type 4, Joubert syndrome 5 | Benign/Likely benign
(Sep 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:94807619-94807620
- GRCh38:
- Chr8:93795391-93795392
| TMEM67 | | Meckel-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 |
| - GRCh37:
- Chr12:88502878
- GRCh38:
- Chr12:88109101
| CEP290 | | Familial aplasia of the vermis, Meckel-Gruber syndrome, Nephronophthisis,
Bardet-Biedl syndrome 14, Senior-Loken syndrome 6, Leber congenital amaurosis 10,
Meckel syndrome, type 4, Joubert syndrome 5 | Likely benign
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:88482995
- GRCh38:
- Chr12:88089218
| CEP290 | | Familial aplasia of the vermis, Meckel-Gruber syndrome, Nephronophthisis,
Bardet-Biedl syndrome 14, Senior-Loken syndrome 6, Leber congenital amaurosis 10,
Meckel syndrome, type 4, Joubert syndrome 5 | Likely benign
(Mar 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:94807624
- GRCh38:
- Chr8:93795396
| TMEM67 | | Meckel-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 |
| - GRCh37:
- Chr8:94827529
- GRCh38:
- Chr8:93815301
| TMEM67 | | 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 | Likely benign
(Aug 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:94821078
- GRCh38:
- Chr8:93808850
| TMEM67 | C736Y, C817Y | 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 | Uncertain significance
(Dec 21, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:88534981
- GRCh38:
- Chr12:88141204
| CEP290 | | Meckel-Gruber syndrome, Familial aplasia of the vermis, Nephronophthisis,
CEP290-Related Disorders, Meckel syndrome, type 4, Leber congenital amaurosis 10,
Senior-Loken syndrome 6, Joubert syndrome 5, Bardet-Biedl syndrome 14
| Likely pathogenic
(Mar 22, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:94822091
- GRCh38:
- Chr8:93809863
| TMEM67 | M914V, M833V | 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 | Uncertain significance
(Apr 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:94793158
- GRCh38:
- Chr8:93780930
| TMEM67 | V228G, V309G | 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 | Uncertain significance
(Apr 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:88484556-88484558
- GRCh38:
- Chr12:88090779-88090781
| CEP290 | Q1174del | Leber congenital amaurosis 10, Senior-Loken syndrome 6, Meckel syndrome, type 4,
Joubert syndrome 5, Bardet-Biedl syndrome 14, CEP290-related condition,
Meckel-Gruber syndrome, Nephronophthisis, Familial aplasia of the vermis
| Uncertain significance
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:94767292
- GRCh38:
- Chr8:93755064
| TMEM67 | D50E | Meckel 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 |
| - GRCh37:
- Chr12:88481735
- GRCh38:
- Chr12:88087958
| CEP290 | | Meckel syndrome, type 4, Leber congenital amaurosis 10, Senior-Loken syndrome 6,
Joubert syndrome 5, Bardet-Biedl syndrome 14, Meckel-Gruber syndrome,
Familial aplasia of the vermis, Nephronophthisis | Uncertain significance
(Mar 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:88496679
- GRCh38:
- Chr12:88102902
| CEP290 | Y976C | Meckel syndrome, type 4, Leber congenital amaurosis 10, Senior-Loken syndrome 6,
Joubert syndrome 5, Bardet-Biedl syndrome 14, Meckel-Gruber syndrome,
Familial aplasia of the vermis, Nephronophthisis | Uncertain significance
(Jun 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:88505521
- GRCh38:
- Chr12:88111744
| CEP290 | R723W | Meckel-Gruber syndrome, Familial aplasia of the vermis, Nephronophthisis,
Meckel syndrome, type 4, Leber congenital amaurosis 10, Senior-Loken syndrome 6,
Joubert syndrome 5, Bardet-Biedl syndrome 14 | Uncertain significance
(Feb 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:88514773
- GRCh38:
- Chr12:88120996
| CEP290 | | Meckel-Gruber syndrome, Familial aplasia of the vermis, Nephronophthisis,
Meckel syndrome, type 4, Leber congenital amaurosis 10, Senior-Loken syndrome 6,
Joubert syndrome 5, Bardet-Biedl syndrome 14 | Likely pathogenic
(May 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:88535016-88535018
- GRCh38:
- Chr12:88141239-88141241
| CEP290 | E23del | Joubert syndrome 5, Nephronophthisis, Meckel-Gruber syndrome,
Familial aplasia of the vermis, Joubert syndrome 5, Bardet-Biedl syndrome 14,
Leber congenital amaurosis 10, Senior-Loken syndrome 6, Meckel syndrome, type 4
| Uncertain significance
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:88524181
- GRCh38:
- Chr12:88130404
| CEP290 | Q178R | Meckel-Gruber syndrome, Familial aplasia of the vermis, Nephronophthisis,
Meckel syndrome, type 4, Leber congenital amaurosis 10, Senior-Loken syndrome 6,
Joubert syndrome 5, Bardet-Biedl syndrome 14 | Uncertain significance
(May 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:88505128
- GRCh38:
- Chr12:88111351
| CEP290 | I740V | Leber congenital amaurosis 10, Senior-Loken syndrome 6, Meckel syndrome, type 4,
Joubert syndrome 5, Bardet-Biedl syndrome 14, CEP290-related condition,
Meckel-Gruber syndrome, Nephronophthisis, Familial aplasia of the vermis
| Uncertain significance
(Dec 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:88453749
- GRCh38:
- Chr12:88059972
| CEP290 | H2191D | Leber congenital amaurosis 10, Senior-Loken syndrome 6, Meckel syndrome, type 4,
Joubert syndrome 5, Bardet-Biedl syndrome 14, not provided,
CEP290-related condition, Meckel-Gruber syndrome, Nephronophthisis,
Familial aplasia of the vermis | Uncertain significance
(Dec 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:88523568
- GRCh38:
- Chr12:88129791
| CEP290 | K252M | Leber congenital amaurosis 10, Senior-Loken syndrome 6, Meckel syndrome, type 4,
Joubert syndrome 5, Bardet-Biedl syndrome 14, CEP290-related condition,
Meckel-Gruber syndrome, Nephronophthisis, Familial aplasia of the vermis
| Uncertain significance
(Apr 28, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:94768065
- GRCh38:
- Chr8:93755837
| TMEM67 | I95V | COACH 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 |
| - GRCh37:
- Chr12:88482889
- GRCh38:
- Chr12:88089112
| CEP290 | K1317E | Nephronophthisis, Meckel-Gruber syndrome, Familial aplasia of the vermis,
Senior-Loken syndrome 6, Joubert syndrome 5, Leber congenital amaurosis 10,
Meckel syndrome, type 4, Bardet-Biedl syndrome 14 | Uncertain significance
(Mar 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:88480163
- GRCh38:
- Chr12:88086386
| CEP290 | | Nephronophthisis, Familial aplasia of the vermis, Meckel-Gruber syndrome,
Senior-Loken syndrome 6, Joubert syndrome 5, Bardet-Biedl syndrome 14,
Leber congenital amaurosis 10, Meckel syndrome, type 4 | Uncertain significance
(Feb 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:88508954
- GRCh38:
- Chr12:88115177
| CEP290 | E610fs | Leber congenital amaurosis 10, Meckel syndrome, type 4, Bardet-Biedl syndrome 14,
Senior-Loken syndrome 6, Joubert syndrome 5, Nephronophthisis,
Familial aplasia of the vermis, Meckel-Gruber syndrome | Pathogenic
(Oct 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:94792828
- GRCh38:
- Chr8:93780600
| TMEM67 | A160G, A241G | COACH 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 |
| - GRCh37:
- Chr8:94828615
- GRCh38:
- Chr8:93816387
| TMEM67 | R894C, R975C | Meckel 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 |
| - GRCh37:
- Chr8:94792992
- GRCh38:
- Chr8:93780764
| TMEM67 | | Meckel 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 |
| - GRCh37:
- Chr8:94821362
- GRCh38:
- Chr8:93809134
| TMEM67 | N797K, N878K | Meckel 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 |
| - GRCh37:
- Chr8:94770724
- GRCh38:
- Chr8:93758496
| TMEM67 | E109G | Meckel 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 |
| - GRCh37:
- Chr8:94817002
- GRCh38:
- Chr8:93804774
| TMEM67 | L698V, L779V | Meckel 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 |
| - GRCh37:
- Chr8:94777864
- GRCh38:
- Chr8:93765636
| TMEM67 | Y133C, Y214C | Meckel 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 |
| - GRCh37:
- Chr12:88512418
- GRCh38:
- Chr12:88118641
| CEP290 | | Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome,
Senior-Loken syndrome 6, Bardet-Biedl syndrome 14, Joubert syndrome 5,
Leber congenital amaurosis 10, Meckel syndrome, type 4 | Uncertain significance
(Jul 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:94828646
- GRCh38:
- Chr8:93816418
| TMEM67 | S985F, S904F | Inborn 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 |
| - GRCh37:
- Chr8:94811907
- GRCh38:
- Chr8:93799679
| TMEM67 | P640R, P721R | 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
(Jul 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:88487653
- GRCh38:
- Chr12:88093876
| CEP290 | N1068S | Meckel-Gruber syndrome, Familial aplasia of the vermis, Nephronophthisis,
Meckel syndrome, type 4, Joubert syndrome 5, Senior-Loken syndrome 6,
Leber congenital amaurosis 10, Bardet-Biedl syndrome 14 | Uncertain significance
(Mar 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:94805538
- GRCh38:
- Chr8:93793310
| TMEM67 | | 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 | Conflicting interpretations of pathogenicity
(Sep 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:88524130
- GRCh38:
- Chr12:88130353
| CEP290 | L195fs | Meckel-Gruber syndrome, Familial aplasia of the vermis, Nephronophthisis,
Meckel syndrome, type 4, Joubert syndrome 5, Senior-Loken syndrome 6,
Leber congenital amaurosis 10, Bardet-Biedl syndrome 14 | Pathogenic/Likely pathogenic
(Jun 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:88478370
- GRCh38:
- Chr12:88084593
| CEP290 | A1566V | Inborn genetic diseases, Nephronophthisis, Meckel-Gruber syndrome,
Familial aplasia of the vermis, Joubert syndrome 5, Bardet-Biedl syndrome 14,
Leber congenital amaurosis 10, Senior-Loken syndrome 6, Meckel syndrome, type 4
| Uncertain significance
(Mar 29, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:94767230
- GRCh38:
- Chr8:93755002
| TMEM67 | L30F | Bardet-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 |
| - GRCh37:
- Chr12:88487579
- GRCh38:
- Chr12:88093802
| CEP290 | R1093C | Meckel syndrome, type 4, Senior-Loken syndrome 6, Joubert syndrome 5,
Leber congenital amaurosis 10, Bardet-Biedl syndrome 14, Meckel-Gruber syndrome,
Familial aplasia of the vermis, Nephronophthisis, CEP290-related condition
| Uncertain significance
(Jun 22, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:88465608
- GRCh38:
- Chr12:88071831
| CEP290 | E1935D | Meckel-Gruber syndrome, Familial aplasia of the vermis, Nephronophthisis,
Meckel syndrome, type 4, Joubert syndrome 5, Senior-Loken syndrome 6,
Leber congenital amaurosis 10, Bardet-Biedl syndrome 14 | Uncertain significance
(Mar 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:94816990
- GRCh38:
- Chr8:93804762
| TMEM67 | I694V, I775V | Inborn 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 |
| - GRCh37:
- Chr12:88487571
- GRCh38:
- Chr12:88093794
| CEP290 | F1095fs | Meckel-Gruber syndrome, Familial aplasia of the vermis, Nephronophthisis,
Meckel syndrome, type 4, Joubert syndrome 5, Senior-Loken syndrome 6,
Leber congenital amaurosis 10, Bardet-Biedl syndrome 14 | Pathogenic/Likely pathogenic
(Jul 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:94767217
- GRCh38:
- Chr8:93754989
| TMEM67 | F25L | 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 | Uncertain significance
(Jul 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:88444142
- GRCh38:
- Chr12:88050365
| CEP290 | Q2400E | Meckel-Gruber syndrome, Familial aplasia of the vermis, Nephronophthisis,
Meckel syndrome, type 4, Joubert syndrome 5, Senior-Loken syndrome 6,
Leber congenital amaurosis 10, Bardet-Biedl syndrome 14 | Uncertain significance
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:88453696
- GRCh38:
- Chr12:88059919
| CEP290 | R2208S | Meckel-Gruber syndrome, Familial aplasia of the vermis, Nephronophthisis,
Meckel syndrome, type 4, Joubert syndrome 5, Senior-Loken syndrome 6,
Leber congenital amaurosis 10, Bardet-Biedl syndrome 14 | Uncertain significance
(Jun 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:94793898
- GRCh38:
- Chr8:93781670
| TMEM67 | K250Q, K331Q | Bardet-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 |
| - GRCh37:
- Chr8:94767150
- GRCh38:
- Chr8:93754922
| TMEM67 | T3M | Joubert 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 |
| - GRCh37:
- Chr8:94809701
- GRCh38:
- Chr8:93797473
| TMEM67 | | Joubert 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 |
| - GRCh37:
- Chr12:88443137-88443138
- GRCh38:
- Chr12:88049360-88049361
| CEP290, RLIG1 | E2422* | Meckel-Gruber syndrome, Nephronophthisis, Familial aplasia of the vermis,
Leber congenital amaurosis 10, Joubert syndrome 5, Senior-Loken syndrome 6,
Meckel syndrome, type 4, Bardet-Biedl syndrome 14 | Pathogenic/Likely pathogenic
(Feb 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:88496742
- GRCh38:
- Chr12:88102965
| CEP290 | N955S | Leber congenital amaurosis 10, Joubert syndrome 5, Senior-Loken syndrome 6,
Meckel syndrome, type 4, Bardet-Biedl syndrome 14, Meckel-Gruber syndrome,
Nephronophthisis, Familial aplasia of the vermis | Uncertain significance
(Jul 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:88519043
- GRCh38:
- Chr12:88125266
| CEP290 | N390S | Meckel-Gruber syndrome, Nephronophthisis, Familial aplasia of the vermis,
Leber congenital amaurosis 10, Joubert syndrome 5, Senior-Loken syndrome 6,
Meckel syndrome, type 4, Bardet-Biedl syndrome 14 | Uncertain significance
(Sep 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:88505113
- GRCh38:
- Chr12:88111336
| CEP290 | K745E | Leber congenital amaurosis 10, Joubert syndrome 5, Senior-Loken syndrome 6,
Meckel syndrome, type 4, Bardet-Biedl syndrome 14, Meckel-Gruber syndrome,
Nephronophthisis, Familial aplasia of the vermis | Uncertain significance
(Nov 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:94784857
- GRCh38:
- Chr8:93772629
| TMEM67 | Q231R, Q150R | Familial 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 |
| - GRCh37:
- Chr12:88482939
- GRCh38:
- Chr12:88089162
| CEP290 | I1300T | Leber congenital amaurosis 10, Joubert syndrome 5, Senior-Loken syndrome 6,
Meckel syndrome, type 4, Bardet-Biedl syndrome 14, Meckel-Gruber syndrome,
Nephronophthisis, Familial aplasia of the vermis | Uncertain significance
(Feb 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:88522761
- GRCh38:
- Chr12:88128984
| CEP290 | I302V | Meckel syndrome, type 4, Senior-Loken syndrome 6, Joubert syndrome 5,
Leber congenital amaurosis 10, Bardet-Biedl syndrome 14, Meckel-Gruber syndrome,
Familial aplasia of the vermis, Nephronophthisis, CEP290-related condition
| Uncertain significance
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:88502838
- GRCh38:
- Chr12:88109061
| CEP290 | | Meckel-Gruber syndrome, Nephronophthisis, Familial aplasia of the vermis,
Leber congenital amaurosis 10, Joubert syndrome 5, Senior-Loken syndrome 6,
Meckel syndrome, type 4, Bardet-Biedl syndrome 14 | Uncertain significance
(Jan 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:88510869
- GRCh38:
- Chr12:88117092
| CEP290 | I589L | Meckel-Gruber syndrome, Nephronophthisis, Familial aplasia of the vermis,
Leber congenital amaurosis 10, Joubert syndrome 5, Senior-Loken syndrome 6,
Meckel syndrome, type 4, Bardet-Biedl syndrome 14 | Uncertain significance
(Feb 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:88490748
- GRCh38:
- Chr12:88096971
| CEP290 | V1007A | Meckel-Gruber syndrome, Nephronophthisis, Familial aplasia of the vermis,
Leber congenital amaurosis 10, Joubert syndrome 5, Senior-Loken syndrome 6,
Meckel syndrome, type 4, Bardet-Biedl syndrome 14 | Uncertain significance
(Mar 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:94808178
- GRCh38:
- Chr8:93795950
| TMEM67 | R527H, R608H | Joubert 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 |
| - GRCh37:
- Chr8:94797493
- GRCh38:
- Chr8:93785265
| TMEM67 | P392R, P311R | Joubert 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 |
| - GRCh37:
- Chr8:94809429
- GRCh38:
- Chr8:93797201
| TMEM67 | R643Q, R562Q | Joubert 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 |
| - GRCh37:
- Chr12:88487599
- GRCh38:
- Chr12:88093822
| CEP290 | S1086L | Leber congenital amaurosis 10, Meckel syndrome, type 4, Bardet-Biedl syndrome 14,
Senior-Loken syndrome 6, Joubert syndrome 5, Familial aplasia of the vermis,
Meckel-Gruber syndrome, Nephronophthisis | Uncertain significance
(Sep 17, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:88484560
- GRCh38:
- Chr12:88090783
| CEP290 | Q1173P | Meckel syndrome, type 4, Joubert syndrome 5, Bardet-Biedl syndrome 14,
Senior-Loken syndrome 6 | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr12:88444142
- GRCh38:
- Chr12:88050365
| CEP290 | Q2400* | Familial aplasia of the vermis, Meckel-Gruber syndrome, Nephronophthisis,
CEP290-Related Disorders, Leber congenital amaurosis 10, Meckel syndrome, type 4,
Bardet-Biedl syndrome 14, Senior-Loken syndrome 6, Joubert syndrome 5
| Pathogenic/Likely pathogenic
(Apr 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:88477700
- GRCh38:
- Chr12:88083923
| CEP290 | E1579V | not provided, Leber congenital amaurosis 10, Meckel syndrome, type 4,
Senior-Loken syndrome 6, Joubert syndrome 5, Bardet-Biedl syndrome 14
| Uncertain significance
(Feb 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:94817041
- GRCh38:
- Chr8:93804813
| TMEM67 | R711G, R792G | COACH 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 |
| - GRCh37:
- Chr12:88500497
- GRCh38:
- Chr12:88106720
| CEP290 | M924I | not provided, Meckel-Gruber syndrome, Familial aplasia of the vermis,
Nephronophthisis, Meckel syndrome, type 4, Bardet-Biedl syndrome 14,
Leber congenital amaurosis 10, Senior-Loken syndrome 6, Joubert syndrome 5
| Uncertain significance
(Aug 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:88523584
- GRCh38:
- Chr12:88129807
| CEP290 | V247I | Inborn genetic diseases, Meckel-Gruber syndrome, Familial aplasia of the vermis,
Nephronophthisis, Meckel syndrome, type 4, Bardet-Biedl syndrome 14,
Leber congenital amaurosis 10, Senior-Loken syndrome 6, Joubert syndrome 5,
not provided | Uncertain significance
(Jul 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:88449454
- GRCh38:
- Chr12:88055677
| CEP290 | A2287T | Meckel-Gruber syndrome, Familial aplasia of the vermis, Nephronophthisis,
Meckel syndrome, type 4, Bardet-Biedl syndrome 14, Leber congenital amaurosis 10,
Senior-Loken syndrome 6, Joubert syndrome 5, not provided
| Uncertain significance
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:88487689-88487694
- GRCh38:
- Chr12:88093912-88093917
| CEP290 | | not provided, Meckel-Gruber syndrome, Familial aplasia of the vermis,
Nephronophthisis, Meckel syndrome, type 4, Bardet-Biedl syndrome 14,
Leber congenital amaurosis 10, Senior-Loken syndrome 6, Joubert syndrome 5
| Uncertain significance
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:88453608
- GRCh38:
- Chr12:88059831
| CEP290 | | not provided, Meckel syndrome, type 4, Joubert syndrome 5,
Senior-Loken syndrome 6, Bardet-Biedl syndrome 14 | Benign
(Jul 22, 2021) | criteria provided, multiple submitters, no conflicts |