| - GRCh37:
- Chr1:216462733
- GRCh38:
- Chr1:216289391
| USH2A | C620* | Usher syndrome type 2 | Pathogenic
(Nov 14, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr1:215972292-215972293
- GRCh38:
- Chr1:215798950-215798951
| USH2A | E3305fs | not provided | Pathogenic
(May 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:216465714
- GRCh38:
- Chr1:216292372
| USH2A | | Usher syndrome type 2A, not provided | Pathogenic
(Feb 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:215848934-215848940
- GRCh38:
- Chr1:215675592-215675598
| USH2A | D4105fs | not provided | Pathogenic
(Jul 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:216062182
- GRCh38:
- Chr1:215888840
| USH2A | C2603* | Usher syndrome type 2 | Pathogenic
(Nov 14, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr1:216017707
- GRCh38:
- Chr1:215844365
| USH2A | K3063* | Usher syndrome type 2 | Pathogenic
(Nov 14, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr1:216172245-216172248
- GRCh38:
- Chr1:215998903-215998906
| USH2A | K2213fs | Usher syndrome type 2 | Pathogenic
(Nov 14, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr1:216462743
- GRCh38:
- Chr1:216289401
| USH2A | C617Y | Usher syndrome type 2 | Pathogenic
(Nov 14, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr1:216390890
- GRCh38:
- Chr1:216217548
| USH2A, USH2A-AS1 | C999F | not provided | Uncertain significance
(Aug 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:216108090
- GRCh38:
- Chr1:215934748
| USH2A | G2390* | not provided | Pathogenic
(Apr 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:215848253
- GRCh38:
- Chr1:215674911
| USH2A | Q4334* | not provided | Pathogenic
(Jul 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:215987206-215987215
- GRCh38:
- Chr1:215813864-215813873
| USH2A | K3201fs | not provided | Pathogenic
(Feb 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:215916551
- GRCh38:
- Chr1:215743209
| USH2A | Q3839fs | not provided | Pathogenic
(Jul 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:216419957
- GRCh38:
- Chr1:216246615
| LOC122152296, USH2A | Q927* | not provided | Pathogenic/Likely pathogenic
(Apr 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:215932091
- GRCh38:
- Chr1:215758749
| USH2A | Y3745* | not provided, Usher syndrome type 2 | Pathogenic
(Sep 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:216256793
- GRCh38:
- Chr1:216083451
| USH2A, USH2A-AS2 | | Usher syndrome type 2, not provided | Conflicting interpretations of pathogenicity
(Sep 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:215847981
- GRCh38:
- Chr1:215674639
| USH2A | C4424* | not provided | Pathogenic
(May 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:216062051
- GRCh38:
- Chr1:215888709
| USH2A | P2647fs | Retinal dystrophy, not provided | Pathogenic/Likely pathogenic
(Mar 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:216424266
- GRCh38:
- Chr1:216250924
| USH2A | K716* | not provided | Pathogenic
(Jun 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:216538411
- GRCh38:
- Chr1:216365069
| USH2A | I223T | Usher syndrome type 2 | Pathogenic
(Jan 9, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:216221910-216221911
- GRCh38:
- Chr1:216048568-216048569
| USH2A | S2043fs | Usher syndrome type 2, not provided | Pathogenic
(Jan 9, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:216369961-216369962
- GRCh38:
- Chr1:216196619-216196620
| USH2A-AS1, USH2A | V1395fs | Usher syndrome type 2 | Pathogenic
(Jan 9, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:216424426
- GRCh38:
- Chr1:216251084
| USH2A | C662* | Usher syndrome type 2 | Pathogenic
(Jan 9, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:215844422-215844436
- GRCh38:
- Chr1:215671080-215671094
| USH2A | | Usher syndrome type 2 | Pathogenic
(Jan 9, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76885863
- GRCh38:
- Chr11:77174817
| MYO7A | R655P, R666P | Usher syndrome type 2 | Pathogenic
(Jan 9, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:76883849
- GRCh38:
- Chr11:77172803
| MYO7A | L607R, L618R | Usher syndrome type 2 | Pathogenic
(Jan 9, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr5:89938451
- GRCh38:
- Chr5:90642634
| ADGRV1 | | Usher syndrome type 2 | Pathogenic
(Jan 9, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr5:89943485-89943486
- GRCh38:
- Chr5:90647668-90647669
| ADGRV1 | G1066fs | Usher syndrome type 2 | Pathogenic
(Jan 9, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:216591932
- GRCh38:
- Chr1:216418590
| USH2A | N192T | Usher syndrome type 2 | Pathogenic
(Jan 9, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:215987135
- GRCh38:
- Chr1:215813793
| USH2A | Q3228* | Usher syndrome type 2 | Pathogenic
(Jan 9, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:216138752
- GRCh38:
- Chr1:215965410
| USH2A | R2343fs | Usher syndrome type 2, not provided | Pathogenic
(Jan 9, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:216369936
- GRCh38:
- Chr1:216196594
| USH2A, USH2A-AS1 | E1404* | Usher syndrome type 2 | Pathogenic
(Jan 9, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:216373399
- GRCh38:
- Chr1:216200057
| USH2A, USH2A-AS1 | T1128fs | Usher syndrome type 2, not provided | Pathogenic
(Jun 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:216496844-216496845
- GRCh38:
- Chr1:216323502-216323503
| USH2A | | not provided, Usher syndrome type 2 | Pathogenic
(Jan 9, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:215808017-215808035
- GRCh38:
- Chr1:215634675-215634693
| USH2A | T5022fs | Usher syndrome, Retinal dystrophy, Usher syndrome type 2,
not provided | Pathogenic/Likely pathogenic
(Jul 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:215820894
- GRCh38:
- Chr1:215647552
| USH2A | E4921* | Usher syndrome type 2, Retinitis pigmentosa 39 | Pathogenic/Likely pathogenic
(Apr 8, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:215848398
- GRCh38:
- Chr1:215675056
| USH2A | W4285* | Usher syndrome type 2 | Pathogenic
(Jan 9, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:215848919-215848920
- GRCh38:
- Chr1:215675577-215675578
| USH2A | G4112fs | Usher syndrome type 2, not provided | Pathogenic
(Apr 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17547990
- GRCh38:
- Chr11:17526443
| USH1C | | Usher syndrome type 2, not provided, Hearing impairment
| Pathogenic/Likely pathogenic
(Mar 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17552825
- GRCh38:
- Chr11:17531278
| USH1C | V88fs | Usher syndrome type 2 | Pathogenic
(Jan 9, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr10:73570327
- GRCh38:
- Chr10:71810570
| CDH23 | | Usher syndrome type 2, not provided | Pathogenic
(Jan 9, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:73565743
- GRCh38:
- Chr10:71805986
| CDH23, LOC111982869 | A445S, A2685S | Usher syndrome type 2 | Pathogenic
(Jan 9, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:216465517
- GRCh38:
- Chr1:216292175
| USH2A | G614R | Retinal dystrophy | Uncertain significance
(Sep 17, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:216462737
- GRCh38:
- Chr1:216289395
| USH2A | L619P | Usher syndrome type 2 | Likely pathogenic
(Jun 23, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr1:216424303
- GRCh38:
- Chr1:216250961
| USH2A | D703E | Usher syndrome type 2 | Likely pathogenic
(Jun 23, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr1:216251484
- GRCh38:
- Chr1:216078142
| USH2A-AS2, USH2A | G1840V | Usher syndrome type 2 | Pathogenic
(Jun 23, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr1:216040473
- GRCh38:
- Chr1:215867131
| USH2A | S2907R | Usher syndrome type 2 | Likely pathogenic
(Jun 23, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr1:215960188
- GRCh38:
- Chr1:215786846
| USH2A | P3404fs | not provided | Pathogenic
(Nov 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:215853671
- GRCh38:
- Chr1:215680329
| USH2A | Y4039fs | not provided | Pathogenic
(Mar 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:215844424
- GRCh38:
- Chr1:215671082
| USH2A | R4675* | Usher syndrome type 2 | Pathogenic
(Jun 23, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr5:90106570
- GRCh38:
- Chr5:90810753
| ADGRV1 | K5165fs | Usher syndrome type 2 | Pathogenic
(Jun 23, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr5:90059126
- GRCh38:
- Chr5:90763309
| ADGRV1 | M4042fs | Usher syndrome type 2 | Pathogenic
(Jun 23, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr5:90281160
- GRCh38:
- Chr5:90985343
| ADGRV1 | | not provided, Usher syndrome type 2 | Pathogenic
(Sep 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:90025490
- GRCh38:
- Chr5:90729673
| ADGRV1 | W3486* | Usher syndrome type 2, not provided | Pathogenic
(Oct 23, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:216371722
- GRCh38:
- Chr1:216198380
| USH2A, USH2A-AS1 | V1339G | Retinal dystrophy, not provided, Inborn genetic diseases
| Conflicting interpretations of pathogenicity
(Oct 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:216052105
- GRCh38:
- Chr1:215878763
| USH2A | | not provided, Usher syndrome type 2A, Retinitis pigmentosa 39,
Retinal dystrophy | Pathogenic/Likely pathogenic
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:216595439-216595440
- GRCh38:
- Chr1:216422097-216422098
| USH2A | Q81fs | not provided, Usher syndrome, Retinitis pigmentosa 39,
Usher syndrome type 2A | Pathogenic
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:215822028
- GRCh38:
- Chr1:215648686
| USH2A | C4808* | Retinitis pigmentosa 39, Usher syndrome type 2A | Likely pathogenic
(Jun 23, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:216498789
- GRCh38:
- Chr1:216325447
| USH2A | R334Q | Retinal dystrophy, not provided, Usher syndrome type 2A,
Usher syndrome type 2A, Retinitis pigmentosa 39 | Conflicting interpretations of pathogenicity
(May 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:216363596
- GRCh38:
- Chr1:216190254
| USH2A | S1455R | not provided, Usher syndrome type 2 | Conflicting interpretations of pathogenicity
(Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:17544786-17544793
- GRCh38:
- Chr11:17523239-17523246
| USH1C | S281fs | Usher syndrome type 2, not provided, Usher syndrome type 1C,
Autosomal recessive nonsyndromic hearing loss 18A | Pathogenic/Likely pathogenic
(Jan 9, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:216380710
- GRCh38:
- Chr1:216207368
| USH2A, USH2A-AS1 | W1074* | not provided, Usher syndrome type 2 | Pathogenic/Likely pathogenic
(Jan 9, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:216246313
- GRCh38:
- Chr1:216072971
| USH2A, USH2A-AS2 | | not provided, Usher syndrome type 2 | Pathogenic/Likely pathogenic
(Jan 9, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:215848361
- GRCh38:
- Chr1:215675019
| USH2A | Y4298N | Usher syndrome type 2, not provided | Conflicting interpretations of pathogenicity
(Jan 9, 2020) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:215844318
- GRCh38:
- Chr1:215670976
| USH2A | Y4710S | not provided, Usher syndrome type 2 | Conflicting interpretations of pathogenicity
(Jan 9, 2020) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:76858845-76858846
- GRCh38:
- Chr11:77147799-77147800
| MYO7A | W47fs, W36fs | not provided, Usher syndrome type 2 | Pathogenic/Likely pathogenic
(Jan 9, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:216246438
- GRCh38:
- Chr1:216073096
| USH2A, USH2A-AS2 | | Usher syndrome, Usher syndrome type 2A, Retinitis pigmentosa 39,
Rare genetic deafness, Retinal dystrophy, Retinitis pigmentosa,
Usher syndrome type 2A, not provided | Pathogenic
(Dec 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:216498790
- GRCh38:
- Chr1:216325448
| USH2A | R334W | Retinal dystrophy, Rare genetic deafness, Usher syndrome type 2A,
Retinitis pigmentosa 39, not provided | Pathogenic/Likely pathogenic
(May 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:216243615
- GRCh38:
- Chr1:216070273
| USH2A | S1961fs | Rare genetic deafness, Usher syndrome type 2, Retinal dystrophy,
Usher syndrome type 2A, Retinitis pigmentosa 39, not provided
| Pathogenic/Likely pathogenic
(Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:216419934
- GRCh38:
- Chr1:216246592
| LOC122152296, USH2A | C934W | Retinal dystrophy, Retinitis pigmentosa, not provided,
Retinitis pigmentosa 39, Usher syndrome, Usher syndrome type 2A
| Conflicting interpretations of pathogenicity
(Nov 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:90016807
- GRCh38:
- Chr5:90720990
| ADGRV1 | R3227* | not provided | Pathogenic
(Aug 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:215990485
- GRCh38:
- Chr1:215817143
| USH2A | G3142* | Rare genetic deafness, Usher syndrome, Inborn genetic diseases,
Retinal dystrophy, Usher syndrome type 2A, Retinitis pigmentosa 39,
not provided, Retinitis pigmentosa | Pathogenic/Likely pathogenic
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:216500979
- GRCh38:
- Chr1:216327637
| USH2A | G268R | Usher syndrome, not provided, Retinitis pigmentosa 39,
Usher syndrome type 2A, Retinal dystrophy | Pathogenic/Likely pathogenic
(Apr 28, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:216462754
- GRCh38:
- Chr1:216289412
| USH2A | | Rare genetic deafness, USH2A-Related Disorders, not provided,
Retinitis pigmentosa 39, Usher syndrome type 2, Nonsyndromic genetic hearing loss,
Retinitis pigmentosa 39, Usher syndrome type 2A, Usher syndrome type 2A
| Pathogenic
(Oct 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:215853720
- GRCh38:
- Chr1:215680378
| USH2A | | Rare genetic deafness, Retinitis pigmentosa 39, Usher syndrome type 2A,
Usher syndrome type 2A, Retinitis pigmentosa 39, Retinal dystrophy,
not provided | Pathogenic
(Apr 4, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:216498651
- GRCh38:
- Chr1:216325309
| USH2A | Y380C | not specified, not provided | Conflicting interpretations of pathogenicity
(Jun 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:90012539
- GRCh38:
- Chr5:90716722
| ADGRV1 | R3147Q | not specified, not provided, Usher syndrome type 2C
| Conflicting interpretations of pathogenicity
(Oct 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:89925235
- GRCh38:
- Chr5:90629418
| ADGRV1 | G573V | not specified, not provided, Usher syndrome type 2C
| Conflicting interpretations of pathogenicity
(Oct 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:90106048
- GRCh38:
- Chr5:90810231
| ADGRV1 | | Rare genetic deafness, Usher syndrome, Retinal dystrophy,
not provided | Pathogenic/Likely pathogenic
(Feb 28, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:216064540
- GRCh38:
- Chr1:215891198
| USH2A | | Usher syndrome, USH2A-Related Disorders, Retinal dystrophy,
Usher syndrome type 2A, Retinitis pigmentosa 39, not provided,
Usher syndrome type 2A, Retinitis pigmentosa 39 | Pathogenic/Likely pathogenic
(Nov 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:216420527
- GRCh38:
- Chr1:216247185
| USH2A | R737* | Rare genetic deafness, not provided, Usher syndrome type 2A
| Pathogenic
(Aug 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:216498841
- GRCh38:
- Chr1:216325499
| USH2A | | Abnormal macular morphology, Retinal pigment epithelial atrophy, Pigmentary retinopathy,
Blindness, Rod-cone dystrophy, Usher syndrome type 2,
Rare genetic deafness, Usher syndrome type 2A, Retinitis pigmentosa 39,
Retinal dystrophy, not providedUsher syndrome type 2A,
...see more | Pathogenic
(Sep 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:215901574
- GRCh38:
- Chr1:215728232
| USH2A | W3955* | Usher syndrome, USH2A-Related Disorders, Rare genetic deafness,
Usher syndrome, Retinal dystrophy, Retinitis pigmentosa 39,
Usher syndrome type 2A, not provided, Retinitis pigmentosa,
Usher syndrome type 2A, Retinitis pigmentosa 39Hearing impairment,
Rod-cone dystrophy, ...see more | Pathogenic
(Jan 11, 2023) | criteria provided, multiple submitters, no conflicts |