| - GRCh37:
- Chr4:39267681
- GRCh38:
- Chr4:39266061
| WDR19 | | Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Renal dysplasia and retinal aplasia
| Pathogenic/Likely pathogenic
(Jul 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:88483129-88483130
- GRCh38:
- Chr12:88089352-88089353
| CEP290 | R1237fs | Familial aplasia of the vermis, Meckel-Gruber syndrome, Nephronophthisis,
Meckel syndrome, type 4 | Pathogenic/Likely pathogenic
(Oct 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:243579101
- GRCh38:
- Chr1:243415799
| SDCCAG8 | Q474*, Q572*, Q271*, Q604* | Renal dysplasia and retinal aplasia | Pathogenic
(Jun 23, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr3:121508940-121508941
- GRCh38:
- Chr3:121790093-121790094
| IQCB1 | M237fs, M370fs | Renal dysplasia and retinal aplasia | Pathogenic
(Jun 23, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr3:121500637
- GRCh38:
- Chr3:121781790
| IQCB1 | R455*, R322* | Nephronophthisis, Renal dysplasia and retinal aplasia | Pathogenic
(Feb 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:166786258
- GRCh38:
- Chr2:165929748
| TTC21B | | not provided | Likely pathogenic
(Feb 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr3:121553926
- GRCh38:
- Chr3:121835079
| IQCB1 | | Renal dysplasia and retinal aplasia | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:121553858
- GRCh38:
- Chr3:121835011
| IQCB1 | | Renal dysplasia and retinal aplasia | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:121553853-121553858
- GRCh38:
- Chr3:121835006-121835011
| IQCB1 | | Renal dysplasia and retinal aplasia | Benign
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:121526302-121526303
- GRCh38:
- Chr3:121807455-121807456
| IQCB1 | | Nephronophthisis, Renal dysplasia and retinal aplasia | Conflicting interpretations of pathogenicity
(Sep 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:121500656
- GRCh38:
- Chr3:121781809
| IQCB1 | | Renal dysplasia and retinal aplasia, Nephronophthisis | Conflicting interpretations of pathogenicity
(Feb 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:110881030-110881032
- GRCh38:
- Chr2:110123453-110123455
| NPHP1 | | Nephronophthisis, Renal dysplasia and retinal aplasia, Familial aplasia of the vermis
| Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr12:88525006
- GRCh38:
- Chr12:88131229
| CEP290 | | Meckel-Gruber syndrome, Nephronophthisis, Familial aplasia of the vermis,
Renal dysplasia and retinal aplasia, Leber congenital amaurosis, Bardet-Biedl syndrome,
Meckel-Gruber syndrome, Familial aplasia of the vermis | Conflicting interpretations of pathogenicity
(Oct 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:88525005-88525006
- GRCh38:
- Chr12:88131228-88131229
| CEP290 | | Meckel-Gruber syndrome, Nephronophthisis, Familial aplasia of the vermis,
Familial aplasia of the vermis, Renal dysplasia and retinal aplasia, Leber congenital amaurosis,
Bardet-Biedl syndrome, Meckel-Gruber syndrome | Conflicting interpretations of pathogenicity
(Oct 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:88525005-88525006
- GRCh38:
- Chr12:88131228-88131229
| CEP290 | | Meckel-Gruber syndrome, Nephronophthisis, Familial aplasia of the vermis,
Meckel-Gruber syndrome, Renal dysplasia and retinal aplasia, not provided,
Leber congenital amaurosis, Bardet-Biedl syndrome, Kidney disorder,
Familial aplasia of the vermis | Conflicting interpretations of pathogenicity
(Nov 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:88487542-88487543
- GRCh38:
- Chr12:88093765-88093766
| CEP290 | | Renal dysplasia and retinal aplasia, Leber congenital amaurosis, Bardet-Biedl syndrome,
Meckel-Gruber syndrome, Familial aplasia of the vermis | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr12:88473020
- GRCh38:
- Chr12:88079243
| CEP290 | | Meckel-Gruber syndrome, Nephronophthisis, Familial aplasia of the vermis,
Renal dysplasia and retinal aplasia, Leber congenital amaurosis, Bardet-Biedl syndrome,
Meckel-Gruber syndrome, Familial aplasia of the vermis | Conflicting interpretations of pathogenicity
(Sep 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:88444117-88444120
- GRCh38:
- Chr12:88050340-88050343
| CEP290 | | Meckel-Gruber syndrome, Nephronophthisis, Familial aplasia of the vermis,
Renal dysplasia and retinal aplasia, Leber congenital amaurosis, Bardet-Biedl syndrome,
Meckel-Gruber syndrome, Familial aplasia of the vermis | Conflicting interpretations of pathogenicity
(Jul 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:88442815-88442818
- GRCh38:
- Chr12:88049038-88049041
| RLIG1, CEP290 | | Meckel-Gruber syndrome, Leber congenital amaurosis, Bardet-Biedl syndrome,
Renal dysplasia and retinal aplasia, Familial aplasia of the vermis | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6052502
- GRCh38:
- Chr1:5992442
| NPHP4 | | Nephronophthisis, Renal dysplasia and retinal aplasia | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6052501
- GRCh38:
- Chr1:5992441
| NPHP4 | | Renal dysplasia and retinal aplasia, Nephronophthisis | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6052500
- GRCh38:
- Chr1:5992440
| NPHP4 | | Renal dysplasia and retinal aplasia, Nephronophthisis | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6052490
- GRCh38:
- Chr1:5992430
| NPHP4 | | Renal dysplasia and retinal aplasia, Nephronophthisis | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:243663391-243663392
- GRCh38:
- Chr1:243500089-243500090
| SDCCAG8, AKT3 | | Renal dysplasia and retinal aplasia, not provided, Bardet-Biedl syndrome
| Conflicting interpretations of pathogenicity
(Jan 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:243663374
- GRCh38:
- Chr1:243500072
| AKT3, SDCCAG8 | | Renal dysplasia and retinal aplasia, Bardet-Biedl syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:243663299-243663300
- GRCh38:
- Chr1:243499997-243499998
| AKT3, SDCCAG8 | | Renal dysplasia and retinal aplasia, Bardet-Biedl syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:243663148-243663149
- GRCh38:
- Chr1:243499846-243499847
| AKT3, SDCCAG8 | | Renal dysplasia and retinal aplasia, not provided, Bardet-Biedl syndrome
| Conflicting interpretations of pathogenicity
(Apr 10, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:88442939-88442942
- GRCh38:
- Chr12:88049162-88049165
| CEP290, RLIG1 | | not specified, Leber congenital amaurosis, Meckel-Gruber syndrome,
Renal dysplasia and retinal aplasia, not provided, Bardet-Biedl syndrome,
Familial aplasia of the vermis | Benign/Likely benign
(May 10, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:6038477
- GRCh38:
- Chr1:5978417
| NPHP4 | | Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4,
Kidney disorder, Renal dysplasia and retinal aplasia | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:88500878-88500879
- GRCh38:
- Chr12:88107101-88107102
| CEP290 | | Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome,
not provided, Meckel-Gruber syndrome, Renal dysplasia and retinal aplasia,
not specified, Familial aplasia of the vermis, Leber congenital amaurosis,
Bardet-Biedl syndrome | Conflicting interpretations of pathogenicity
(Oct 29, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:110922710-110922711
- GRCh38:
- Chr2:110165133-110165134
| NPHP1 | | Nephronophthisis, Nephronophthisis 1, Senior-Loken syndrome 1,
Joubert syndrome with renal defect, Renal dysplasia and retinal aplasia, not provided,
Familial aplasia of the vermis | Uncertain significance
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:88522823-88522824
- GRCh38:
- Chr12:88129046-88129047
| CEP290 | | Familial aplasia of the vermis, Meckel-Gruber syndrome, Nephronophthisis,
Renal dysplasia and retinal aplasia, not specified, not provided,
Meckel syndrome, type 4, Leber congenital amaurosis, Bardet-Biedl syndrome,
Familial aplasia of the vermis, Meckel-Gruber syndromeBardet-Biedl syndrome 14,
Senior-Loken syndrome 6, Joubert syndrome 5, ...see more | Benign
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:88454594-88454595
- GRCh38:
- Chr12:88060817-88060818
| CEP290 | | Familial aplasia of the vermis, Meckel-Gruber syndrome, Nephronophthisis,
Renal dysplasia and retinal aplasia, not specified, not provided,
Meckel syndrome, type 4, Leber congenital amaurosis, Bardet-Biedl syndrome,
Familial aplasia of the vermis, Meckel-Gruber syndromeBardet-Biedl syndrome 14,
Senior-Loken syndrome 6, Joubert syndrome 5, ...see more | Benign
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:88483273
- GRCh38:
- Chr12:88089496
| CEP290 | | Meckel-Gruber syndrome, Familial aplasia of the vermis, Nephronophthisis,
Renal dysplasia and retinal aplasia, not specified, not provided,
Leber congenital amaurosis, Meckel syndrome, type 4, Bardet-Biedl syndrome,
Familial aplasia of the vermis, Bardet-Biedl syndrome 14Joubert syndrome 5,
Senior-Loken syndrome 6, Meckel-Gruber syndrome, ...see more | Benign
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:166797621
- GRCh38:
- Chr2:165941111
| TTC21B, TTC21B-AS1 | P209L | Jeune thoracic dystrophy, Nephronophthisis, TTC21B-related condition,
Nephronophthisis 12, Asphyxiating thoracic dystrophy 4, Retinal dystrophy,
not provided, Nephronophthisis 12, Infantile nephronophthisis,
See cases | Pathogenic/Likely pathogenic
(Jul 31, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:39233563
- GRCh38:
- Chr4:39231943
| WDR19 | L710S, L550S | WDR19-related condition, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5,
Connective tissue disorder, Senior-Loken syndrome 8, Renal dysplasia and retinal aplasia,
not provided, Asphyxiating thoracic dystrophy 5 | Pathogenic
(Jul 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:121500619
- GRCh38:
- Chr3:121781772
| IQCB1 | R461*, R328* | IQCB1-related condition, Nephronophthisis, Inborn genetic diseases,
not provided, Senior-Loken syndrome 5 | Pathogenic
(Jul 25, 2023) | criteria provided, multiple submitters, no conflicts |