| - GRCh37:
- Chr1:215847599
- GRCh38:
- Chr1:215674257
| USH2A | W4552R | Retinitis pigmentosa 39 | Likely pathogenic
(Jan 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:216498684
- GRCh38:
- Chr1:216325342
| USH2A | V369E | Retinitis pigmentosa 39 | Likely pathogenic
(Jan 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:215799158
- GRCh38:
- Chr1:215625816
| USH2A | K5192E | Retinitis pigmentosa 39 | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr1:216270498
- GRCh38:
- Chr1:216097156
| USH2A | S1562fs | Retinitis pigmentosa 39 | Pathogenic
(May 8, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:216363619
- GRCh38:
- Chr1:216190277
| USH2A | N1448H | Retinitis pigmentosa 39 | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr1:216523906
- GRCh38:
- Chr1:216350564
| USH2A | | Retinitis pigmentosa 39 | Likely pathogenic
(Jun 2, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:216495244
- GRCh38:
- Chr1:216321902
| USH2A | S542I | Retinitis pigmentosa 39 | Uncertain significance
(Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:215848555
- GRCh38:
- Chr1:215675213
| USH2A | W4233* | Retinitis pigmentosa 39 | Likely pathogenic
(Mar 16, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:215848443-215848444
- GRCh38:
- Chr1:215675101-215675102
| USH2A | V4270fs | Retinitis pigmentosa 39 | Pathogenic
(Mar 17, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:216221956
- GRCh38:
- Chr1:216048614
| USH2A | Y2028C | Retinitis pigmentosa 39, not provided | Uncertain significance
(Aug 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:215821073
- GRCh38:
- Chr1:215647731
| USH2A | | Retinitis pigmentosa 39, not provided | Likely pathogenic
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:216373062
- GRCh38:
- Chr1:216199720
| USH2A, USH2A-AS1 | Q1240fs | Retinitis pigmentosa 39 | Likely pathogenic
(Sep 1, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr1:215847941
- GRCh38:
- Chr1:215674599
| USH2A | W4438R | not specified, Retinitis pigmentosa 39, Usher syndrome type 2A
| Uncertain significance
(Mar 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:216270450
- GRCh38:
- Chr1:216097108
| USH2A | R1578H | Retinitis pigmentosa 39, Usher syndrome type 2A, not provided
| Uncertain significance
(Jul 2, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:215848937
- GRCh38:
- Chr1:215675595
| USH2A | G4106R | Usher syndrome type 2A, Retinitis pigmentosa 39, not provided
| Uncertain significance
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:216363657
- GRCh38:
- Chr1:216190315
| USH2A | K1435T | Usher syndrome type 2A, Retinitis pigmentosa 39, not provided
| Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:215933027
- GRCh38:
- Chr1:215759685
| USH2A | D3736N | not provided, Retinitis pigmentosa 39, Usher syndrome type 2A
| Uncertain significance
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:215827312
- GRCh38:
- Chr1:215653970
| USH2A | | not provided, Retinitis pigmentosa, Usher syndrome type 2A,
Retinitis pigmentosa 39, Usher syndrome | Pathogenic/Likely pathogenic
(Jul 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:216143966
- GRCh38:
- Chr1:215970624
| USH2A | | Usher syndrome type 2A, Retinitis pigmentosa 39, Usher syndrome type 2A,
Retinitis pigmentosa 39, not provided | Likely pathogenic
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:215972394
- GRCh38:
- Chr1:215799052
| USH2A | M3271I | Usher syndrome type 2A, Retinitis pigmentosa 39, not provided
| Uncertain significance
(Aug 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:216221905
- GRCh38:
- Chr1:216048563
| USH2A | H2045L | Retinitis pigmentosa 39, Usher syndrome type 2A, not provided
| Uncertain significance
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:216108020
- GRCh38:
- Chr1:215934678
| USH2A | N2413T | Retinitis pigmentosa 39, Usher syndrome type 2A, not provided
| Uncertain significance
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:215821963
- GRCh38:
- Chr1:215648621
| USH2A | S4830* | Retinitis pigmentosa 39, Usher syndrome type 2A, not provided
| Pathogenic/Likely pathogenic
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:216424230
- GRCh38:
- Chr1:216250888
| USH2A | | Usher syndrome type 2A, Retinitis pigmentosa 39, not provided
| Conflicting interpretations of pathogenicity
(Jul 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:216061970
- GRCh38:
- Chr1:215888628
| USH2A | T2674N | not provided, Retinitis pigmentosa 39, Usher syndrome type 2A
| Uncertain significance
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:216246507
- GRCh38:
- Chr1:216073165
| USH2A, USH2A-AS2 | N1903S | Retinitis pigmentosa 39, Usher syndrome type 2A, not provided
| Uncertain significance
(Feb 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:216251560
- GRCh38:
- Chr1:216078218
| USH2A, USH2A-AS2 | S1815G | not provided, Usher syndrome type 2A, Retinitis pigmentosa 39
| Uncertain significance
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:215848235
- GRCh38:
- Chr1:215674893
| USH2A | G4340R | Retinitis pigmentosa 39 | Likely pathogenic
(Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:216369892
- GRCh38:
- Chr1:216196550
| USH2A, USH2A-AS1 | | Retinitis pigmentosa 39, not provided, Usher syndrome type 2A
| Uncertain significance
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:216138679
- GRCh38:
- Chr1:215965337
| USH2A | G2367E | Usher syndrome type 2A, Retinitis pigmentosa 39, not provided
| Uncertain significance
(May 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:215821023
- GRCh38:
- Chr1:215647681
| USH2A | C4878G | not provided, Retinitis pigmentosa 39, Usher syndrome type 2A
| Uncertain significance
(Oct 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:216074169
- GRCh38:
- Chr1:215900827
| USH2A | R2460H | Usher syndrome type 2A, Retinitis pigmentosa 39, not provided
| Uncertain significance
(Aug 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:216246676
- GRCh38:
- Chr1:216073334
| USH2A, USH2A-AS2 | | not provided, Usher syndrome type 2A, Retinitis pigmentosa 39
| Benign
(Dec 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:215853749
- GRCh38:
- Chr1:215680407
| USH2A | | Usher syndrome type 2A, Retinitis pigmentosa 39, not provided
| Benign
(Dec 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:216424331
- GRCh38:
- Chr1:216250989
| USH2A | C694S | Usher syndrome type 2A, Retinitis pigmentosa 39 | Uncertain significance
(Jul 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:215955493
- GRCh38:
- Chr1:215782151
| USH2A | F3544S | Usher syndrome type 2A, Retinitis pigmentosa 39 | Uncertain significance
(Jul 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:216256814
- GRCh38:
- Chr1:216083472
| USH2A, USH2A-AS2 | G1761E | Usher syndrome type 2A, Retinitis pigmentosa 39 | Uncertain significance
(Jul 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:215824131
- GRCh38:
- Chr1:215650789
| USH2A | N4716D | Usher syndrome type 2A, Retinitis pigmentosa 39 | Uncertain significance
(Jul 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:216256878
- GRCh38:
- Chr1:216083536
| USH2A-AS2, USH2A | I1740fs | Retinitis pigmentosa 39 | Pathogenic
(Jun 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:215955413
- GRCh38:
- Chr1:215782071
| USH2A | T3571A | Retinitis pigmentosa 39 | Likely pathogenic
(Jun 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:216166480
- GRCh38:
- Chr1:215993138
| USH2A | S2229R | Retinitis pigmentosa 39 | Uncertain significance
(Jun 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:215847974
- GRCh38:
- Chr1:215674632
| USH2A | G4427R | Retinitis pigmentosa 39, not specified | Conflicting interpretations of pathogenicity
(Mar 31, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:216495327
- GRCh38:
- Chr1:216321985
| USH2A | | not provided, Retinitis pigmentosa 39 | Conflicting interpretations of pathogenicity
(Sep 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:216420304-216420305
- GRCh38:
- Chr1:216246962-216246963
| LOC122152296, USH2A | K811fs | Retinitis pigmentosa 39, Usher syndrome type 2A, Usher syndrome type 2A
| Pathogenic/Likely pathogenic
(Sep 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:216496888
- GRCh38:
- Chr1:216323546
| USH2A | Y493C | Retinitis pigmentosa, Retinitis pigmentosa 39, not provided
| Likely pathogenic
(Jul 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:216363577
- GRCh38:
- Chr1:216190235
| USH2A | T1462P | Usher syndrome type 2A, Retinitis pigmentosa 39, not provided
| Conflicting interpretations of pathogenicity
(Jun 27, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:216062274
- GRCh38:
- Chr1:215888932
| USH2A | R2573C | not provided, Retinitis pigmentosa 39 | Uncertain significance
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:216424377
- GRCh38:
- Chr1:216251035
| USH2A | G679* | not provided, Retinitis pigmentosa 39 | Pathogenic
(Jul 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:216051098
- GRCh38:
- Chr1:215877756
| USH2A | | not provided, Retinitis pigmentosa 39 | Pathogenic
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:215847620
- GRCh38:
- Chr1:215674278
| USH2A | P4545S | not provided, Retinitis pigmentosa 39 | Uncertain significance
(Aug 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:215956139
- GRCh38:
- Chr1:215782797
| USH2A | K3509R | Usher syndrome type 2A, Retinitis pigmentosa 39 | Uncertain significance
(Jul 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:215963621
- GRCh38:
- Chr1:215790279
| USH2A | M3321T | Usher syndrome type 2A, Retinitis pigmentosa 39 | Uncertain significance
(Jul 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:216498749
- GRCh38:
- Chr1:216325407
| USH2A | | Usher syndrome type 2A, Retinitis pigmentosa 39 | Uncertain significance
(Jul 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:216420094
- GRCh38:
- Chr1:216246752
| LOC122152296, USH2A | Q881P | Usher syndrome type 2A, Retinitis pigmentosa 39 | Uncertain significance
(Jul 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:215901551
- GRCh38:
- Chr1:215728209
| USH2A | A3963T | Usher syndrome type 2A, Retinitis pigmentosa 39 | Uncertain significance
(Jul 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:215848769
- GRCh38:
- Chr1:215675427
| USH2A | T4162A | not provided, Retinitis pigmentosa 39, Usher syndrome type 2A
| Uncertain significance
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:215848802
- GRCh38:
- Chr1:215675460
| USH2A | D4151H | Usher syndrome type 2A, Retinitis pigmentosa 39 | Uncertain significance
(Jul 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:216258160
- GRCh38:
- Chr1:216084818
| USH2A-AS2, USH2A | N1683D | Usher syndrome type 2A, Retinitis pigmentosa 39 | Uncertain significance
(Jul 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:216465525
- GRCh38:
- Chr1:216292183
| USH2A | N611T | Usher syndrome type 2A, Retinitis pigmentosa 39 | Uncertain significance
(Jul 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:215808003
- GRCh38:
- Chr1:215634661
| USH2A | S5032N | Retinitis pigmentosa 39, Usher syndrome type 2A, not specified,
not provided | Uncertain significance
(Jul 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:215821910
- GRCh38:
- Chr1:215648568
| USH2A | R4848W | Usher syndrome type 2A, Retinitis pigmentosa 39, Retinitis pigmentosa 39,
Usher syndrome type 2A, not provided | Uncertain significance
(Aug 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:215933018
- GRCh38:
- Chr1:215759676
| USH2A | L3739V | Usher syndrome type 2A, Retinitis pigmentosa 39 | Uncertain significance
(Jul 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:216246275
- GRCh38:
- Chr1:216072933
| USH2A, USH2A-AS2 | G1938V | Usher syndrome type 2A, Retinitis pigmentosa 39, not provided
| Uncertain significance
(Sep 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:215960228
- GRCh38:
- Chr1:215786886
| USH2A | | not provided, Usher syndrome type 2A, Retinitis pigmentosa 39
| Benign/Likely benign
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:216172401
- GRCh38:
- Chr1:215999059
| USH2A | | not provided | Likely pathogenic
(Aug 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:215848897
- GRCh38:
- Chr1:215675555
| USH2A | F4119S | Retinitis pigmentosa 39 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr1:216373476-216373477
- GRCh38:
- Chr1:216200134-216200135
| USH2A, USH2A-AS1 | | not provided, Usher syndrome type 2A, Retinitis pigmentosa 39
| Benign
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:216497470-216497473
- GRCh38:
- Chr1:216324128-216324131
| USH2A | | not provided, Usher syndrome type 2A, Retinitis pigmentosa 39
| Benign
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:216172418
- GRCh38:
- Chr1:215999076
| USH2A | | not provided, Retinitis pigmentosa 39, Usher syndrome type 2A
| Benign
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:216074312
- GRCh38:
- Chr1:215900970
| USH2A | | not provided, Retinitis pigmentosa 39, Usher syndrome type 2A
| Benign
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:215931923
- GRCh38:
- Chr1:215758581
| USH2A | | not provided, Retinitis pigmentosa 39, Usher syndrome type 2A
| Benign
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:215916684-215916687
- GRCh38:
- Chr1:215743342-215743345
| USH2A | | not provided, Retinitis pigmentosa 39, Usher syndrome type 2A
| Likely benign
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:216221908
- GRCh38:
- Chr1:216048566
| USH2A | S2044* | not provided, Usher syndrome type 2A, Retinitis pigmentosa 39
| Pathogenic/Likely pathogenic
(Aug 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:216369894
- GRCh38:
- Chr1:216196552
| USH2A-AS1, USH2A | | Usher syndrome, not provided, Usher syndrome type 2A,
Retinitis pigmentosa 39 | Pathogenic/Likely pathogenic
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:216246617
- GRCh38:
- Chr1:216073275
| USH2A, USH2A-AS2 | | Retinitis pigmentosa 39, not provided | Conflicting interpretations of pathogenicity
(Aug 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:216138808
- GRCh38:
- Chr1:215965466
| USH2A | T2324I | Retinitis pigmentosa 39, not provided | Uncertain significance
(Aug 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:215931936
- GRCh38:
- Chr1:215758594
| USH2A | | not provided, Retinitis pigmentosa 39 | Pathogenic/Likely pathogenic
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:216373274
- GRCh38:
- Chr1:216199932
| USH2A, USH2A-AS1 | W1169* | Retinitis pigmentosa 39 | Likely pathogenic
(Apr 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:216219831
- GRCh38:
- Chr1:216046489
| USH2A | C2089* | Retinitis pigmentosa 39 | Likely pathogenic
(Apr 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:216363684-216363685
- GRCh38:
- Chr1:216190342-216190343
| USH2A | E1426fs | Retinitis pigmentosa 39, not provided | Pathogenic/Likely pathogenic
(Jun 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:216256795
- GRCh38:
- Chr1:216083453
| USH2A, USH2A-AS2 | | Retinitis pigmentosa 39 | Uncertain significance
(Apr 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:215901620-215901621
- GRCh38:
- Chr1:215728278-215728279
| USH2A | | Retinitis pigmentosa 39 | Uncertain significance
(Apr 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:215823992
- GRCh38:
- Chr1:215650650
| USH2A | N4762S | Retinitis pigmentosa 39, not provided | Pathogenic/Likely pathogenic
(Sep 17, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:215848405
- GRCh38:
- Chr1:215675063
| USH2A | I4283T | Retinitis pigmentosa 39 | Likely pathogenic
(Apr 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:216369894
- GRCh38:
- Chr1:216196552
| USH2A, USH2A-AS1 | | not provided, Retinitis pigmentosa 39 | Pathogenic/Likely pathogenic
(Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:216595391
- GRCh38:
- Chr1:216422049
| USH2A | Y97fs | Retinitis pigmentosa 39 | Likely pathogenic
(Apr 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:216251473
- GRCh38:
- Chr1:216078131
| USH2A, USH2A-AS2 | Q1844* | Retinitis pigmentosa 39, not provided | Pathogenic/Likely pathogenic
(Apr 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:216074133
- GRCh38:
- Chr1:215900791
| USH2A | Q2472P | Retinitis pigmentosa 39 | Conflicting interpretations of pathogenicity
(Jun 23, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:216172375
- GRCh38:
- Chr1:215999033
| USH2A | G2171R | Retinitis pigmentosa 39, not provided | Uncertain significance
(Jul 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:216371910
- GRCh38:
- Chr1:216198568
| USH2A, USH2A-AS1 | Y1276* | Retinitis pigmentosa 39, not provided | Pathogenic/Likely pathogenic
(Oct 21, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:216108033
- GRCh38:
- Chr1:215934691
| USH2A | T2409P | Retinitis pigmentosa 39, not provided | Uncertain significance
(Jun 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:216500945
- GRCh38:
- Chr1:216327603
| USH2A | A279E | Retinitis pigmentosa 39, not provided | Uncertain significance
(Jun 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:216262469
- GRCh38:
- Chr1:216089127
| USH2A | E1591K | Retinitis pigmentosa 39 | Uncertain significance
(Apr 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:216370061
- GRCh38:
- Chr1:216196719
| USH2A, USH2A-AS1 | P1362L | Retinitis pigmentosa 39 | Uncertain significance
(Apr 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:216424377
- GRCh38:
- Chr1:216251035
| USH2A | G679R | Usher syndrome type 2A, Retinitis pigmentosa 39, not provided,
Hearing impairment | Uncertain significance
(Sep 27, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:216251673
- GRCh38:
- Chr1:216078331
| USH2A, USH2A-AS2 | R1777Q | Usher syndrome type 2A, Retinitis pigmentosa 39, not provided
| Uncertain significance
(Aug 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:216370022
- GRCh38:
- Chr1:216196680
| USH2A, USH2A-AS1 | S1375L | Usher syndrome, not provided, Retinitis pigmentosa 39
| Conflicting interpretations of pathogenicity
(Feb 17, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:216369895
- GRCh38:
- Chr1:216196553
| USH2A, USH2A-AS1 | Q1417H | Usher syndrome type 2A, Retinitis pigmentosa 39, not provided
| Conflicting interpretations of pathogenicity
(Sep 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:215824083
- GRCh38:
- Chr1:215650741
| USH2A | P4732S | not provided, Usher syndrome type 2A, Retinitis pigmentosa 39
| Uncertain significance
(Feb 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:216108075
- GRCh38:
- Chr1:215934733
| USH2A | L2395F | Retinitis pigmentosa 39, Usher syndrome type 2A, not provided
| Uncertain significance
(Jul 17, 2022) | criteria provided, multiple submitters, no conflicts |