| - GRCh37:
- Chr16:57935439
- GRCh38:
- Chr16:57901535
| CNGB1 | L956R, L962R | Retinitis pigmentosa 45 | Uncertain significance
(Jun 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:57950040
- GRCh38:
- Chr16:57916136
| CNGB1 | R731H, R737H | not provided, Retinitis pigmentosa 45 | Uncertain significance
(Dec 8, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:57954416
- GRCh38:
- Chr16:57920512
| CNGB1 | T553K, T559K | Retinitis pigmentosa 45, not provided | Uncertain significance
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:57935330
- GRCh38:
- Chr16:57901426
| CNGB1 | R968W, R962W | Retinitis pigmentosa 45, not provided | Uncertain significance
(Nov 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:57938728
- GRCh38:
- Chr16:57904824
| CNGB1 | L843fs, L849fs | Retinitis pigmentosa 45 | Likely pathogenic
(Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:57937745
- GRCh38:
- Chr16:57903841
| CNGB1 | W919*, W925* | Retinitis pigmentosa 45 | Pathogenic
(Aug 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:57998345
- GRCh38:
- Chr16:57964441
| CNGB1 | | Retinitis pigmentosa 45 | Benign
(Jul 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:57991317
- GRCh38:
- Chr16:57957413
| CNGB1 | | Retinitis pigmentosa 45 | Benign
(Jul 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:57984483
- GRCh38:
- Chr16:57950579
| CNGB1 | | Retinitis pigmentosa 45 | Benign
(Jul 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:57957138
- GRCh38:
- Chr16:57923234
| CNGB1 | | Retinitis pigmentosa 45 | Benign
(Jul 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:57954268
- GRCh38:
- Chr16:57920364
| CNGB1 | | Retinitis pigmentosa 45 | Benign
(Jul 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:57951243
- GRCh38:
- Chr16:57917339
| CNGB1 | D693N, D699N | not provided, Retinitis pigmentosa 45 | Uncertain significance
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh38:
- Chr16:57903821-57931878
| CNGB1, LOC130059126 | | Retinitis pigmentosa 45 | Uncertain significance
(Jul 6, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr16:57965663
- GRCh38:
- Chr16:57931759
| CNGB1 | S492fs, S498fs | Retinitis pigmentosa 45 | Pathogenic
(Jul 6, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr16:57938690
- GRCh38:
- Chr16:57904786
| CNGB1 | Q855fs, Q861fs | Retinitis pigmentosa 45 | Likely pathogenic
(Apr 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:57938636
- GRCh38:
- Chr16:57904732
| CNGB1 | | Retinitis pigmentosa 45 | Likely pathogenic
(Apr 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:57938668-57938669
- GRCh38:
- Chr16:57904764-57904765
| CNGB1 | V863fs, V869fs | Retinitis pigmentosa 45 | Likely pathogenic
(Apr 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:57937887
- GRCh38:
- Chr16:57903983
| CNGB1 | | not provided, Retinitis pigmentosa 45 | Likely pathogenic
(Jun 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:58001188
- GRCh38:
- Chr16:57967284
| CNGB1 | M1I | not provided, Retinitis pigmentosa 45, Inborn genetic diseases
| Uncertain significance
(Jul 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:57954434
- GRCh38:
- Chr16:57920530
| CNGB1 | A547E, A553E | Retinitis pigmentosa 45, not provided | Conflicting interpretations of pathogenicity
(Apr 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:57938729
- GRCh38:
- Chr16:57904825
| CNGB1 | G848V, G842V | Retinitis pigmentosa 45 | Uncertain significance
(Nov 26, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:57954393
- GRCh38:
- Chr16:57920489
| CNGB1 | R561W, R567W | not provided, Retinitis pigmentosa 45 | Uncertain significance
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:58001082
- GRCh38:
- Chr16:57967178
| CNGB1 | V37M | not provided, Retinitis pigmentosa 45 | Conflicting interpretations of pathogenicity
(Oct 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:57953079
- GRCh38:
- Chr16:57919175
| CNGB1 | C621*, C627* | Retinitis pigmentosa 45 | Likely pathogenic
(Jan 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:57949164
- GRCh38:
- Chr16:57915260
| CNGB1 | R759C, R765C | not provided, Retinitis pigmentosa 45 | Conflicting interpretations of pathogenicity
(Sep 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:57935311
- GRCh38:
- Chr16:57901407
| CNGB1 | M968R, M974R | Retinitis pigmentosa 45, not provided | Conflicting interpretations of pathogenicity
(May 22, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:57993958
- GRCh38:
- Chr16:57960054
| CNGB1 | R199C, R193C | Inborn genetic diseases, not provided, Retinitis pigmentosa 45
| Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:57954351
- GRCh38:
- Chr16:57920447
| CNGB1 | K581E, K575E | Retinitis pigmentosa 45 | Uncertain significance
(Apr 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:57965737
- GRCh38:
- Chr16:57931833
| CNGB1 | D473G, D467G | Retinitis pigmentosa 45 | Uncertain significance
(Aug 19, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:57931820
- GRCh38:
- Chr16:57897916
| CNGB1 | | Retinitis pigmentosa 45 | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr16:57984346
- GRCh38:
- Chr16:57950442
| CNGB1 | Q325*, Q319* | Retinitis pigmentosa 45 | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr16:57918297
- GRCh38:
- Chr16:57884393
| CNGB1 | P1176L, P1170L | not provided, Retinitis pigmentosa 45, Retinitis pigmentosa
| Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:57931394-57931412
- GRCh38:
- Chr16:57897490-57897508
| CNGB1 | A1038fs, A1044fs | Retinal dystrophy, not provided, Retinitis pigmentosa 45
| Pathogenic/Likely pathogenic
(Sep 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:58001180
- GRCh38:
- Chr16:57967276
| CNGB1 | W4* | Retinal dystrophy, not provided, Retinitis pigmentosa 45
| Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:57953064
- GRCh38:
- Chr16:57919160
| CNGB1 | C632*, C626* | Retinitis pigmentosa, Retinitis pigmentosa 45, not provided
| Pathogenic
(Jul 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:57954438
- GRCh38:
- Chr16:57920534
| CNGB1 | R546C, R552C | Inborn genetic diseases, not provided, Retinitis pigmentosa 45
| Uncertain significance
(Jan 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:57937858
- GRCh38:
- Chr16:57903954
| CNGB1 | A888T, A882T | Retinitis pigmentosa, not provided, Retinitis pigmentosa 45
| Conflicting interpretations of pathogenicity
(Oct 8, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:57973498
- GRCh38:
- Chr16:57939594
| CNGB1 | | Retinitis pigmentosa 45, not provided | Likely pathogenic
(Mar 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:57949173
- GRCh38:
- Chr16:57915269
| CNGB1 | R756C, R762C | not provided, Retinitis pigmentosa 45 | Pathogenic
(Sep 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:57992319
- GRCh38:
- Chr16:57958415
| CNGB1 | E272Q, E278Q | Retinitis pigmentosa 45 | Uncertain significance
(Aug 24, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:57974243
- GRCh38:
- Chr16:57940339
| CNGB1 | | not provided, Retinitis pigmentosa 45 | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:57935274
- GRCh38:
- Chr16:57901370
| CNGB1 | | Retinitis pigmentosa 45, not provided, Retinitis pigmentosa
| Conflicting interpretations of pathogenicity
(Sep 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:57951381
- GRCh38:
- Chr16:57917477
| CNGB1 | | Retinal dystrophy, Retinitis pigmentosa, not provided,
Retinitis pigmentosa 45 | Pathogenic/Likely pathogenic
(Jul 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:57991285
- GRCh38:
- Chr16:57957381
| CNGB1 | | not provided, Retinitis pigmentosa, Retinitis pigmentosa 45
| Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:57996515
- GRCh38:
- Chr16:57962611
| CNGB1 | | not provided, Retinitis pigmentosa, Retinitis pigmentosa 45,
Retinal dystrophy | Pathogenic/Likely pathogenic
(Oct 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:57937725
- GRCh38:
- Chr16:57903821
| CNGB1 | | Retinitis pigmentosa, Retinitis pigmentosa 45, not provided,
Retinal dystrophy | Pathogenic/Likely pathogenic
(Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:57938764
- GRCh38:
- Chr16:57904860
| CNGB1 | Y836*, Y830* | not provided, Retinitis pigmentosa 45 | Pathogenic
(Aug 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:57937755-57937758
- GRCh38:
- Chr16:57903851-57903854
| CNGB1 | Y921fs, Y915fs | not provided, Retinitis pigmentosa 45 | Pathogenic/Likely pathogenic
(Feb 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:57935346
- GRCh38:
- Chr16:57901442
| CNGB1 | | not provided, Retinitis pigmentosa | Pathogenic
(Feb 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:57998092
- GRCh38:
- Chr16:57964188
| CNGB1 | A78T | not provided, Retinitis pigmentosa, Retinitis pigmentosa 45,
Inborn genetic diseases | Conflicting interpretations of pathogenicity
(Oct 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:57996960
- GRCh38:
- Chr16:57963056
| CNGB1 | R100H | not provided, Retinitis pigmentosa 45, Retinitis pigmentosa
| Benign
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:57996932
- GRCh38:
- Chr16:57963028
| CNGB1 | | not provided, Retinitis pigmentosa, Retinitis pigmentosa 45
| Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:57996738
- GRCh38:
- Chr16:57962834
| CNGB1 | | not specified, Retinitis pigmentosa, Retinitis pigmentosa 45,
not provided | Conflicting interpretations of pathogenicity
(Oct 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:57983274-57983275
- GRCh38:
- Chr16:57949370-57949371
| CNGB1 | | not specified, Retinitis Pigmentosa, Recessive, not provided
| Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:57951240
- GRCh38:
- Chr16:57917336
| CNGB1 | L700F, L694F | Retinitis pigmentosa, not provided, Retinitis pigmentosa 45
| Conflicting interpretations of pathogenicity
(Oct 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:57950057
- GRCh38:
- Chr16:57916153
| CNGB1 | | Retinitis pigmentosa, not provided, Retinitis pigmentosa 45
| Benign
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:57938771
- GRCh38:
- Chr16:57904867
| CNGB1 | R834L, R828L | Retinitis pigmentosa, not provided, Retinitis pigmentosa 45
| Uncertain significance
(May 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:57937820
- GRCh38:
- Chr16:57903916
| CNGB1 | | Retinitis pigmentosa, Retinitis pigmentosa 45, not provided
| Conflicting interpretations of pathogenicity
(Feb 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:57921752
- GRCh38:
- Chr16:57887848
| CNGB1 | | Retinitis pigmentosa 45, not provided, Retinitis pigmentosa
| Benign
(Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:57918240
- GRCh38:
- Chr16:57884336
| CNGB1 | S1195C, S1189C | Retinitis pigmentosa 45, not provided, Retinitis pigmentosa
| Conflicting interpretations of pathogenicity
(Oct 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:57931393
- GRCh38:
- Chr16:57897489
| CNGB1 | F1045fs, F1051fs | not provided, Retinitis pigmentosa 45, Retinal dystrophy
| Pathogenic
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:58001018
- GRCh38:
- Chr16:57967114
| CNGB1 | | not provided, Retinitis pigmentosa 45, not specified,
Retinitis pigmentosa | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:57938727-57938728
- GRCh38:
- Chr16:57904823-57904824
| CNGB1 | L849fs, L843fs | Retinal dystrophy, Retinitis pigmentosa, Retinitis pigmentosa 45,
not provided | Pathogenic/Likely pathogenic
(Aug 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:57935470
- GRCh38:
- Chr16:57901566
| CNGB1 | V952M, V946M | not provided, Retinitis pigmentosa 45 | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:57957231
- GRCh38:
- Chr16:57923327
| CNGB1 | P530R, P524R | not provided, Retinitis pigmentosa, Retinitis pigmentosa 49
| Conflicting interpretations of pathogenicity
(Oct 18, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:57945788
- GRCh38:
- Chr16:57911884
| CNGB1 | | not provided, Retinitis pigmentosa, Retinitis pigmentosa 45
| Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:57957194
- GRCh38:
- Chr16:57923290
| CNGB1 | | not specified, not provided, Retinitis pigmentosa,
Retinitis pigmentosa 45 | Conflicting interpretations of pathogenicity
(Feb 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:57974240
- GRCh38:
- Chr16:57940336
| CNGB1 | | not provided, not specified, Retinitis pigmentosa,
Retinitis pigmentosa 45 | Benign/Likely benign
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:57974143
- GRCh38:
- Chr16:57940239
| CNGB1 | D402N, D396N | not specified, not provided, Retinitis pigmentosa,
Retinitis pigmentosa 45 | Benign/Likely benign
(Feb 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:57937895
- GRCh38:
- Chr16:57903991
| CNGB1 | | not specified, not provided, Retinitis pigmentosa,
Retinitis pigmentosa 45 | Benign
(Sep 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:57937856
- GRCh38:
- Chr16:57903952
| CNGB1 | | not specified, not provided, Retinitis pigmentosa,
Retinitis pigmentosa 45 | Benign
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:57935275
- GRCh38:
- Chr16:57901371
| CNGB1 | N986I, N980I | Retinal dystrophy, not provided, Retinitis pigmentosa,
Retinitis pigmentosa 45 | Pathogenic/Likely pathogenic
(Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:57998386
- GRCh38:
- Chr16:57964482
| CNGB1 | | Retinitis pigmentosa 45, not provided | Pathogenic/Likely pathogenic
(Dec 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:57984367
- GRCh38:
- Chr16:57950463
| CNGB1 | Q318*, Q312* | Retinal dystrophy, not provided, Retinitis pigmentosa 45
| Pathogenic
(Jun 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:57949224
- GRCh38:
- Chr16:57915320
| CNGB1 | L745I, L739I | not specified, not provided, Retinitis pigmentosa,
Retinitis pigmentosa 45 | Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:57949251
- GRCh38:
- Chr16:57915347
| CNGB1 | | not specified, not provided, Retinitis pigmentosa,
Retinitis pigmentosa 45 | Benign
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:57965676
- GRCh38:
- Chr16:57931772
| CNGB1 | | not specified, not provided, Retinitis pigmentosa,
Retinitis pigmentosa 45 | Conflicting interpretations of pathogenicity
(Oct 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:57921758
- GRCh38:
- Chr16:57887854
| CNGB1 | | Retinitis pigmentosa 45 | Pathogenic
(Dec 1, 2004) | no assertion criteria provided |
| - GRCh37:
- Chr16:57931817
- GRCh38:
- Chr16:57897913
| CNGB1 | G993V, G987V | Retinitis pigmentosa 45 | Pathogenic
(Apr 1, 2001) | no assertion criteria provided |