USH2A — 9283 ClinVar variants

All ClinVar germline USH2A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 2184 flagged for review →

876 Pathogenic · 425 Pathogenic/Likely pathogenic · 732 Likely pathogenic · 515 Conflicting · 264 Benign · 114 Benign/Likely benign · 3104 Likely benign · 3253 Uncertain significance

Full USH2A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 2184

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 80

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

USH2A p.Ala4740Asp Pathogenic Expert panel
Usher syndrome
USH2A p.Arg3905Cys Pathogenic Expert panel
Usher syndrome
USH2A p.Arg4192Cys Likely pathogenic Expert panel
Usher syndrome
USH2A p.Asn4292Asp Likely pathogenic Expert panel
inherited retinal dystrophy
USH2A p.Gly1861Ser Pathogenic Expert panel
Usher syndrome
USH2A p.Ala4511Thr Likely pathogenic Multiple submitters
retinitis pigmentosa 39
USH2A p.Arg1578Cys Pathogenic/Likely pathogenic Multiple submitters
USH2A-related disorder
USH2A p.Arg1777Trp Pathogenic/Likely pathogenic Multiple submitters
retinitis pigmentosa 39
USH2A p.Arg2509Trp Pathogenic/Likely pathogenic Multiple submitters
USH2A-related disorder
USH2A p.Arg2894Lys Pathogenic/Likely pathogenic Multiple submitters
Usher syndrome type 2A
USH2A p.Arg303His Pathogenic/Likely pathogenic Multiple submitters
Usher syndrome
USH2A p.Arg334Gln Pathogenic/Likely pathogenic Multiple submitters
inherited retinal dystrophy
USH2A p.Arg334Trp Pathogenic/Likely pathogenic Multiple submitters
Rare genetic deafness
USH2A p.Arg3719His Pathogenic/Likely pathogenic Multiple submitters
Usher syndrome
USH2A p.Arg4192His Pathogenic/Likely pathogenic Multiple submitters
retinitis pigmentosa
USH2A p.Arg464His Pathogenic/Likely pathogenic Multiple submitters
Usher syndrome type 2A
USH2A p.Asn4762Ser Pathogenic/Likely pathogenic Multiple submitters
retinitis pigmentosa 39
USH2A p.Cys3444Tyr Pathogenic/Likely pathogenic Multiple submitters
retinitis pigmentosa 39
USH2A p.Cys4194Arg Pathogenic/Likely pathogenic Multiple submitters
USH2A-related disorder
USH2A p.Gln1417His Pathogenic/Likely pathogenic Multiple submitters
inherited retinal dystrophy
USH2A p.Glu1926Lys Pathogenic/Likely pathogenic Multiple submitters
Usher syndrome type 2A
USH2A p.Glu3448Lys Pathogenic/Likely pathogenic Multiple submitters
Usher syndrome
USH2A p.Gly1526Arg Pathogenic Multiple submitters
USH2A-related disorder
USH2A p.Gly3529Ser Pathogenic/Likely pathogenic Multiple submitters
USH2A-related disorder
USH2A p.Gly3756Ser Likely pathogenic Multiple submitters
USH2A-related disorder
USH2A p.Gly4489Ser Pathogenic Multiple submitters
retinitis pigmentosa 39
USH2A p.His3607Pro Pathogenic/Likely pathogenic Multiple submitters
Usher syndrome
USH2A p.Ile4386Phe Likely pathogenic Multiple submitters
Usher syndrome type 2A
USH2A p.Met4447Leu Pathogenic/Likely pathogenic Multiple submitters
USH2A-related disorder
USH2A p.Pro1836Thr Pathogenic/Likely pathogenic Multiple submitters
USH2A-related disorder
USH2A p.Pro1843Leu Pathogenic/Likely pathogenic Multiple submitters
retinitis pigmentosa 39
USH2A p.Pro2241Leu Pathogenic/Likely pathogenic Multiple submitters
retinitis pigmentosa 39
USH2A p.Pro2624Leu Pathogenic/Likely pathogenic Multiple submitters
Usher syndrome type 2A
USH2A p.Pro3116Thr Pathogenic/Likely pathogenic Multiple submitters
USH2A-related disorder
USH2A p.Pro3272Leu Pathogenic/Likely pathogenic Multiple submitters
Usher syndrome
USH2A p.Pro4818Leu Pathogenic/Likely pathogenic Multiple submitters
Monogenic hearing loss
USH2A p.Pro5007Leu Pathogenic/Likely pathogenic Multiple submitters
USH2A-related disorder
USH2A p.Ser1136Gly Likely pathogenic Multiple submitters
Usher syndrome type 2A
USH2A p.Ser1375Leu Pathogenic/Likely pathogenic Multiple submitters
Usher syndrome
USH2A p.Ser4748Phe Pathogenic/Likely pathogenic Multiple submitters
retinitis pigmentosa 39
USH2A p.Thr2310Met Pathogenic/Likely pathogenic Multiple submitters
retinitis pigmentosa 39
USH2A p.Thr3571Met Pathogenic/Likely pathogenic Multiple submitters
Rare genetic deafness
USH2A p.Thr3667Pro Pathogenic/Likely pathogenic Multiple submitters
USH2A-related disorder
USH2A p.Thr4169Pro Pathogenic/Likely pathogenic Multiple submitters
Usher syndrome
USH2A p.Thr4337Met Pathogenic/Likely pathogenic Multiple submitters
Rare genetic deafness
USH2A p.Thr5006Met Pathogenic/Likely pathogenic Multiple submitters
Usher syndrome
USH2A p.Tyr3143Cys Pathogenic/Likely pathogenic Multiple submitters
Usher syndrome
USH2A p.Tyr4494Cys Pathogenic/Likely pathogenic Multiple submitters
USH2A-related disorder
USH2A p.Tyr90Cys Pathogenic/Likely pathogenic Multiple submitters
retinitis pigmentosa 39
USH2A p.Val164Phe Pathogenic/Likely pathogenic Multiple submitters
USH2A-related disorder
USH2A p.Val1816Gly Pathogenic/Likely pathogenic Multiple submitters
USH2A-related disorder
USH2A p.Arg998Lys Likely pathogenic Single submitter
Usher syndrome type 2A
USH2A p.Asn192Thr Pathogenic Single submitter
Usher syndrome type 2
USH2A p.Asn2356Ser Likely pathogenic Single submitter
retinitis pigmentosa
USH2A p.Asn3067Lys Likely pathogenic Single submitter
inherited retinal dystrophy
USH2A p.Asp2279Tyr Pathogenic Single submitter
retinitis pigmentosa
USH2A p.Gln1718Pro Pathogenic Single submitter
USH2A p.Glu1715Gly Likely pathogenic Single submitter
Usher syndrome
USH2A p.Gly1858Val Likely pathogenic Single submitter
USH2A-related disorder
USH2A p.Gly2313Ser Likely pathogenic Single submitter
USH2A p.Gly2331Glu Likely pathogenic Single submitter
USH2A p.Gly4340Ala Likely pathogenic Single submitter
USH2A p.Gly4340Arg Likely pathogenic Single submitter
retinitis pigmentosa 39
USH2A p.Gly4340Glu Likely pathogenic Single submitter
USH2A p.Gly4340Val Likely pathogenic Single submitter
retinitis pigmentosa 39
USH2A p.Gly4401Asp Likely pathogenic Single submitter
USH2A p.Leu4522Phe Likely pathogenic Single submitter
Usher syndrome type 2A
USH2A p.Pro2329Leu Likely pathogenic Single submitter
USH2A p.Pro3504Thr Pathogenic Single submitter
USH2A-related disorder
USH2A p.Pro4232Leu Pathogenic Single submitter
USH2A p.Pro4232Thr Likely pathogenic Single submitter
USH2A p.Pro4450Leu Likely pathogenic Single submitter
USH2A p.Thr3571Ala Likely pathogenic Single submitter
retinitis pigmentosa 39
USH2A p.Val1756Phe Likely pathogenic Single submitter
USH2A-related disorder
USH2A p.Val1816Glu Likely pathogenic Single submitter
USH2A p.Arg3124Gly Likely pathogenic No assertion criteria
retinitis pigmentosa
USH2A p.Asp703Glu Likely pathogenic No assertion criteria
Usher syndrome type 2
USH2A p.Glu3448Gln Likely pathogenic No assertion criteria
inherited retinal dystrophy
USH2A p.Gly1029Ala Likely pathogenic No assertion criteria
retinitis pigmentosa
USH2A p.Thr3494Ala Likely pathogenic No assertion criteria
inherited retinal dystrophy

Predictors agree, ClinVar conflicts 231

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification. · showing the 150 best-reviewed of 231

USH2A p.Ala1009Val Conflicting Single submitter
Inborn genetic diseases
USH2A p.Ala1214Thr Conflicting Single submitter
Inborn genetic diseases
USH2A p.Ala1267Val Conflicting Single submitter
Inborn genetic diseases
USH2A p.Ala1511Val Conflicting Single submitter
Inborn genetic diseases
USH2A p.Ala1711Thr Conflicting Single submitter
USH2A p.Ala1953Gly Conflicting Single submitter
inherited retinal dystrophy
USH2A p.Ala2713Ser Conflicting Single submitter
USH2A p.Ala3013Thr Conflicting Single submitter
Inborn genetic diseases
USH2A p.Ala3230Thr Conflicting Single submitter
Inborn genetic diseases
USH2A p.Ala3489Thr Conflicting Single submitter
inherited retinal dystrophy
USH2A p.Ala3492Thr Conflicting Single submitter
USH2A p.Ala3866Val Conflicting Single submitter
Usher syndrome type 2A
USH2A p.Ala4366Val Conflicting Single submitter
USH2A p.Ala4400Ser Conflicting Single submitter
USH2A p.Ala524Asp Conflicting Single submitter
retinitis pigmentosa 39
USH2A p.Arg1438Lys Conflicting Single submitter
USH2A p.Arg1471Thr Conflicting Single submitter
retinitis pigmentosa
USH2A p.Arg1653Gln Conflicting Single submitter
USH2A p.Arg1777Gln Conflicting Single submitter
retinitis pigmentosa 39
USH2A p.Arg1964His Conflicting Single submitter
Inborn genetic diseases
USH2A p.Arg2354Cys Conflicting Single submitter
Usher syndrome type 2A
USH2A p.Arg2573His Conflicting Single submitter
USH2A p.Arg2573Pro Conflicting Single submitter
USH2A p.Arg2859Cys Conflicting Single submitter
USH2A p.Arg3037His Conflicting Single submitter
Usher syndrome type 2A
USH2A p.Arg3134Gln Conflicting Single submitter
USH2A p.Arg3205His Conflicting Single submitter
Usher syndrome type 2A
USH2A p.Arg3522Gly Conflicting Single submitter
inherited retinal dystrophy
USH2A p.Arg3626Ser Conflicting Single submitter
Usher syndrome type 2A
USH2A p.Arg3641Lys Conflicting Single submitter
Usher syndrome type 2A
USH2A p.Arg3941Gln Conflicting Single submitter
Usher syndrome type 2A
USH2A p.Arg3999His Conflicting Single submitter
Inborn genetic diseases
USH2A p.Arg4081Gln Conflicting Single submitter
Inborn genetic diseases
USH2A p.Arg4092Lys Conflicting Single submitter
Usher syndrome type 2A
USH2A p.Arg4115Cys Conflicting Single submitter
Usher syndrome type 2A
USH2A p.Arg4115His Conflicting Single submitter
retinitis pigmentosa 39
USH2A p.Arg4121His Conflicting Single submitter
USH2A-related disorder
USH2A p.Arg4187His Conflicting Single submitter
USH2A-related disorder
USH2A p.Arg4495Cys Conflicting Single submitter
retinitis pigmentosa 39
USH2A p.Arg4495His Conflicting Single submitter
retinitis pigmentosa 39
USH2A p.Arg449His Conflicting Single submitter
inherited retinal dystrophy
USH2A p.Arg4526Gln Conflicting Single submitter
USH2A p.Arg4570His Conflicting Single submitter
inherited retinal dystrophy
USH2A p.Arg4935Gln Conflicting Single submitter
USH2A p.Arg4971Gln Conflicting Single submitter
Inborn genetic diseases
USH2A p.Arg5119Trp Conflicting Single submitter
inherited retinal dystrophy
USH2A p.Arg5125His Conflicting Single submitter
Inborn genetic diseases
USH2A p.Arg5194His Conflicting Single submitter
Inborn genetic diseases
USH2A p.Asn1683Ser Conflicting Single submitter
Usher syndrome type 2A
USH2A p.Asn2334Asp Conflicting Single submitter
retinitis pigmentosa 39
USH2A p.Asn3257Ser Conflicting Single submitter
inherited retinal dystrophy
USH2A p.Asn3372Lys Conflicting Single submitter
Inborn genetic diseases
USH2A p.Asn3742Ser Conflicting Single submitter
USH2A p.Asn405Asp Conflicting Single submitter
Inborn genetic diseases
USH2A p.Asn4101Ile Conflicting Single submitter
USH2A p.Asp1624Val Conflicting Single submitter
inherited retinal dystrophy
USH2A p.Asp2237Glu Conflicting Single submitter
USH2A p.Asp2477Asn Conflicting Single submitter
USH2A p.Asp347His Conflicting Single submitter
Usher syndrome type 2A
USH2A p.Asp4448Gly Conflicting Single submitter
Inborn genetic diseases
USH2A p.Asp4968Asn Conflicting Single submitter
Usher syndrome type 2A
USH2A p.Asp631Asn Conflicting Single submitter
USH2A p.Cys2309Arg Conflicting Single submitter
retinitis pigmentosa 39
USH2A p.Cys3016Tyr Conflicting Single submitter
Usher syndrome type 2A
USH2A p.Cys4375Arg Conflicting Single submitter
USH2A-related disorder
USH2A p.Cys5122Arg Conflicting Single submitter
inherited retinal dystrophy
USH2A p.Cys520Arg Conflicting Single submitter
inherited retinal dystrophy
USH2A p.Cys552Ser Conflicting Single submitter
USH2A p.Cys577Arg Conflicting Single submitter
USH2A-related disorder
USH2A p.Cys605Arg Conflicting Single submitter
retinitis pigmentosa
USH2A p.Cys608Arg Conflicting Single submitter
USH2A p.Cys662Ser Conflicting Single submitter
Usher syndrome type 2A
USH2A p.Cys696Phe Conflicting Single submitter
USH2A-related disorder
USH2A p.Cys729Tyr Conflicting Single submitter
USH2A p.Cys744Tyr Conflicting Single submitter
USH2A-related disorder
USH2A p.Cys768Arg Conflicting Single submitter
Usher syndrome
USH2A p.Cys985Arg Conflicting Single submitter
Usher syndrome
USH2A p.Gln2615Arg Conflicting Single submitter
Usher syndrome type 2A
USH2A p.Gln4541Pro Conflicting Single submitter
Inborn genetic diseases
USH2A p.Gln4676Arg Conflicting Single submitter
Delayed speech and language development
USH2A p.Gln5010Leu Conflicting Single submitter
Inborn genetic diseases
USH2A p.Glu1314Gly Conflicting Single submitter
Inborn genetic diseases
USH2A p.Glu1994Lys Conflicting Single submitter
Inborn genetic diseases
USH2A p.Glu2330Gly Conflicting Single submitter
Inborn genetic diseases
USH2A p.Glu2613Asp Conflicting Single submitter
inherited retinal dystrophy
USH2A p.Glu2716Lys Conflicting Single submitter
Usher syndrome type 2A
USH2A p.Glu284Gly Conflicting Single submitter
Usher syndrome
USH2A p.Glu3398Asp Conflicting Single submitter
Inborn genetic diseases
USH2A p.Glu3496Ala Conflicting Single submitter
Inborn genetic diseases
USH2A p.Glu3670Lys Conflicting Single submitter
USH2A p.Glu3730Gly Conflicting Single submitter
Usher syndrome type 2A
USH2A p.Glu3912Lys Conflicting Single submitter
Inborn genetic diseases
USH2A p.Glu3939Lys Conflicting Single submitter
inherited retinal dystrophy
USH2A p.Glu4209Lys Conflicting Single submitter
Inborn genetic diseases
USH2A p.Glu4701Lys Conflicting Single submitter
retinitis pigmentosa 39
USH2A p.Glu4784Lys Conflicting Single submitter
USH2A-related disorder
USH2A p.Glu478Asp Conflicting Single submitter
retinitis pigmentosa
USH2A p.Glu4914Lys Conflicting Single submitter
USH2A p.Gly1271Glu Conflicting Single submitter
USH2A-related disorder
USH2A p.Gly1599Asp Conflicting Single submitter
Usher syndrome type 2A
USH2A p.Gly160Ser Conflicting Single submitter
retinitis pigmentosa
USH2A p.Gly1649Glu Conflicting Single submitter
retinitis pigmentosa
USH2A p.Gly1840Glu Conflicting Single submitter
USH2A p.Gly1882Ser Conflicting Single submitter
Inborn genetic diseases
USH2A p.Gly2390Arg Conflicting Single submitter
Inborn genetic diseases
USH2A p.Gly420Ser Conflicting Single submitter
Inborn genetic diseases
USH2A p.Gly4516Trp Conflicting Single submitter
Usher syndrome type 2A
USH2A p.Gly4759Arg Conflicting Single submitter
Inborn genetic diseases
USH2A p.Gly4838Arg Conflicting Single submitter
Usher syndrome type 2A
USH2A p.Gly600Ala Conflicting Single submitter
USH2A p.Gly614Arg Conflicting Single submitter
USH2A-related disorder
USH2A p.Gly660Glu Conflicting Single submitter
USH2A p.His1015Gln Conflicting Single submitter
USH2A-related disorder
USH2A p.His1015Tyr Conflicting Single submitter
Usher syndrome type 2A
USH2A p.His2045Arg Conflicting Single submitter
Usher syndrome type 2A
USH2A p.His2346Arg Conflicting Single submitter
Usher syndrome type 2A
USH2A p.His2982Leu Conflicting Single submitter
Inborn genetic diseases
USH2A p.His3204Arg Conflicting Single submitter
inherited retinal dystrophy
USH2A p.His4867Leu Conflicting Single submitter
Usher syndrome type 2A
USH2A p.His521Arg Conflicting Single submitter
inherited retinal dystrophy
USH2A p.Ile1107Ser Conflicting Single submitter
retinitis pigmentosa 39
USH2A p.Ile1234Val Conflicting Single submitter
Inborn genetic diseases
USH2A p.Ile1613Val Conflicting Single submitter
Usher syndrome type 2A
USH2A p.Ile2189Val Conflicting Single submitter
USH2A-related disorder
USH2A p.Ile2642Val Conflicting Single submitter
Usher syndrome type 2A
USH2A p.Ile3103Val Conflicting Single submitter
Usher syndrome type 2A
USH2A p.Ile3335Leu Conflicting Single submitter
USH2A p.Ile3781Val Conflicting Single submitter
Inborn genetic diseases
USH2A p.Ile3794Met Conflicting Single submitter
Inborn genetic diseases
USH2A p.Ile4102Val Conflicting Single submitter
Inborn genetic diseases
USH2A p.Ile4186Thr Conflicting Single submitter
Usher syndrome type 2A
USH2A p.Ile4295Val Conflicting Single submitter
Usher syndrome type 2A
USH2A p.Ile5166Val Conflicting Single submitter
Usher syndrome
USH2A p.Leu1047Val Conflicting Single submitter
retinitis pigmentosa 39
USH2A p.Leu1648Pro Conflicting Single submitter
retinitis pigmentosa 39
USH2A p.Leu2015Phe Conflicting Single submitter
Inborn genetic diseases
USH2A p.Leu3024His Conflicting Single submitter
Usher syndrome
USH2A p.Leu3537Phe Conflicting Single submitter
USH2A p.Leu4132Pro Conflicting Single submitter
USH2A p.Leu4795Arg Conflicting Single submitter
inherited retinal dystrophy
USH2A p.Leu4896Phe Conflicting Single submitter
Inborn genetic diseases
USH2A p.Lys1529Ile Conflicting Single submitter
retinitis pigmentosa
USH2A p.Lys3366Glu Conflicting Single submitter
Inborn genetic diseases
USH2A p.Lys3861Arg Conflicting Single submitter
Inborn genetic diseases
USH2A p.Met1344Val Conflicting Single submitter
inherited retinal dystrophy
USH2A p.Met185Val Conflicting Single submitter
Inborn genetic diseases
USH2A p.Met3271Ile Conflicting Single submitter
inherited retinal dystrophy
USH2A p.Met3331Lys Conflicting Single submitter
retinitis pigmentosa 39
USH2A p.Met3868Leu Conflicting Single submitter
Usher syndrome type 2A
USH2A p.Met4447Thr Conflicting Single submitter
USH2A-related disorder

Predictors lean, ClinVar uncertain 1774

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 1774

USH2A p.Leu3145Phe Uncertain significance Expert panel
Usher syndrome
USH2A p.Lys1680Arg Uncertain significance Expert panel
Usher syndrome
USH2A p.Pro2078Arg Uncertain significance Expert panel
Usher syndrome
USH2A p.Pro4466Ser Uncertain significance Expert panel
Usher syndrome
USH2A p.Val2244Met Uncertain significance Expert panel
Usher syndrome
USH2A p.Ala1009Gly Uncertain significance Multiple submitters
Usher syndrome type 2A
USH2A p.Ala120Gly Uncertain significance Multiple submitters
USH2A p.Ala120Thr Uncertain significance Multiple submitters
USH2A p.Ala1351Val Uncertain significance Multiple submitters
Usher syndrome type 2A
USH2A p.Ala1414Val Uncertain significance Multiple submitters
inherited retinal dystrophy
USH2A p.Ala1561Val Uncertain significance Multiple submitters
USH2A p.Ala1686Val Uncertain significance Multiple submitters
USH2A p.Ala1952Val Uncertain significance Multiple submitters
Inborn genetic diseases
USH2A p.Ala2055Thr Uncertain significance Multiple submitters
retinitis pigmentosa 39
USH2A p.Ala2111Glu Uncertain significance Multiple submitters
Inborn genetic diseases
USH2A p.Ala2234Val Uncertain significance Multiple submitters
Inborn genetic diseases
USH2A p.Ala2246Asp Uncertain significance Multiple submitters
Inborn genetic diseases
USH2A p.Ala2297Ser Uncertain significance Multiple submitters
retinitis pigmentosa 39
USH2A p.Ala2308Glu Uncertain significance Multiple submitters
USH2A p.Ala2351Thr Uncertain significance Multiple submitters
Usher syndrome type 2A
USH2A p.Ala2459Gly Uncertain significance Multiple submitters
Inborn genetic diseases
USH2A p.Ala2529Thr Uncertain significance Multiple submitters
USH2A p.Ala2602Gly Uncertain significance Multiple submitters
USH2A p.Ala2623Ser Uncertain significance Multiple submitters
USH2A p.Ala3154Thr Uncertain significance Multiple submitters
Inborn genetic diseases
USH2A p.Ala3230Ser Uncertain significance Multiple submitters
USH2A p.Ala3492Ser Uncertain significance Multiple submitters
retinitis pigmentosa 39
USH2A p.Ala3584Pro Uncertain significance Multiple submitters
USH2A p.Ala3603Thr Uncertain significance Multiple submitters
USH2A p.Ala3865Glu Uncertain significance Multiple submitters
retinitis pigmentosa 39
USH2A p.Ala3922Thr Uncertain significance Multiple submitters
Usher syndrome type 2A
USH2A p.Ala3963Thr Uncertain significance Multiple submitters
retinitis pigmentosa 39
USH2A p.Ala3975Thr Uncertain significance Multiple submitters
Usher syndrome type 2A
USH2A p.Ala4153Val Uncertain significance Multiple submitters
retinitis pigmentosa 39
USH2A p.Ala4207Thr Uncertain significance Multiple submitters
Inborn genetic diseases
USH2A p.Ala4332Val Uncertain significance Multiple submitters
Inborn genetic diseases
USH2A p.Ala4542Gly Uncertain significance Multiple submitters
retinitis pigmentosa 39
USH2A p.Ala4714Ser Uncertain significance Multiple submitters
Usher syndrome type 2A
USH2A p.Ala4740Thr Uncertain significance Multiple submitters
USH2A p.Ala4775Asp Uncertain significance Multiple submitters
USH2A p.Ala4775Thr Uncertain significance Multiple submitters
USH2A p.Ala4894Thr Uncertain significance Multiple submitters
Usher syndrome type 2A
USH2A p.Ala5048Thr Uncertain significance Multiple submitters
Usher syndrome type 2A
USH2A p.Ala5048Val Uncertain significance Multiple submitters
retinitis pigmentosa
USH2A p.Ala508Thr Uncertain significance Multiple submitters
retinitis pigmentosa 39
USH2A p.Ala5121Pro Uncertain significance Multiple submitters
USH2A p.Ala5183Thr Uncertain significance Multiple submitters
Usher syndrome type 2A
USH2A p.Ala5183Val Uncertain significance Multiple submitters
USH2A p.Ala569Thr Uncertain significance Multiple submitters
USH2A p.Ala634Ser Uncertain significance Multiple submitters
retinitis pigmentosa
USH2A p.Arg1135Ser Uncertain significance Multiple submitters
Inborn genetic diseases
USH2A p.Arg1295Gln Uncertain significance Multiple submitters
retinitis pigmentosa 39
USH2A p.Arg1295Leu Uncertain significance Multiple submitters
Inborn genetic diseases
USH2A p.Arg1438Ser Uncertain significance Multiple submitters
retinitis pigmentosa 39
USH2A p.Arg1438Thr Uncertain significance Multiple submitters
Inborn genetic diseases
USH2A p.Arg1521His Uncertain significance Multiple submitters
retinitis pigmentosa 39
USH2A p.Arg1549Pro Uncertain significance Multiple submitters
USH2A p.Arg1930Gln Uncertain significance Multiple submitters
Inborn genetic diseases
USH2A p.Arg1946Gln Uncertain significance Multiple submitters
inherited retinal dystrophy
USH2A p.Arg1964Cys Uncertain significance Multiple submitters
inherited retinal dystrophy
USH2A p.Arg1981Gly Uncertain significance Multiple submitters
Usher syndrome type 2A
USH2A p.Arg1998Cys Uncertain significance Multiple submitters
Inborn genetic diseases
USH2A p.Arg2001His Uncertain significance Multiple submitters
USH2A p.Arg2175Cys Uncertain significance Multiple submitters
Inborn genetic diseases
USH2A p.Arg2292Cys Uncertain significance Multiple submitters
Usher syndrome type 2A
USH2A p.Arg2323Gln Uncertain significance Multiple submitters
Usher syndrome type 2A
USH2A p.Arg2343Gln Uncertain significance Multiple submitters
retinitis pigmentosa 39
USH2A p.Arg2354His Uncertain significance Multiple submitters
Leber congenital amaurosis
USH2A p.Arg2460His Uncertain significance Multiple submitters
Usher syndrome type 2A
USH2A p.Arg2509Gln Uncertain significance Multiple submitters
Usher syndrome type 2A
USH2A p.Arg2557Thr Uncertain significance Multiple submitters
Inborn genetic diseases
USH2A p.Arg2573Cys Uncertain significance Multiple submitters
Inborn genetic diseases
USH2A p.Arg2914Gln Uncertain significance Multiple submitters
retinitis pigmentosa 39
USH2A p.Arg3037Cys Uncertain significance Multiple submitters
retinitis pigmentosa 39
USH2A p.Arg3119Cys Uncertain significance Multiple submitters
Usher syndrome type 2A
USH2A p.Arg3119His Uncertain significance Multiple submitters
retinitis pigmentosa 39
USH2A p.Arg317Gln Uncertain significance Multiple submitters
retinitis pigmentosa
USH2A p.Arg3205Cys Uncertain significance Multiple submitters
USH2A p.Arg3258Gln Uncertain significance Multiple submitters
Inborn genetic diseases
USH2A p.Arg3258Trp Uncertain significance Multiple submitters
Inborn genetic diseases
USH2A p.Arg3317Cys Uncertain significance Multiple submitters
retinitis pigmentosa 39
USH2A p.Arg3475Lys Uncertain significance Multiple submitters
Inborn genetic diseases
USH2A p.Arg3484Gln Uncertain significance Multiple submitters
Usher syndrome type 2A
USH2A p.Arg3543Cys Uncertain significance Multiple submitters
inherited retinal dystrophy
USH2A p.Arg3543His Uncertain significance Multiple submitters
retinitis pigmentosa 39
USH2A p.Arg3545Gln Uncertain significance Multiple submitters
Usher syndrome type 2A
USH2A p.Arg3689Gln Uncertain significance Multiple submitters
inherited retinal dystrophy
USH2A p.Arg3744Gly Uncertain significance Multiple submitters
retinitis pigmentosa 39
USH2A p.Arg3857Gly Uncertain significance Multiple submitters
USH2A p.Arg3904Lys Uncertain significance Multiple submitters
retinitis pigmentosa 39
USH2A p.Arg398Lys Uncertain significance Multiple submitters
Inborn genetic diseases
USH2A p.Arg4040Cys Uncertain significance Multiple submitters
Inborn genetic diseases
USH2A p.Arg4475Gly Uncertain significance Multiple submitters
retinitis pigmentosa 39
USH2A p.Arg449Cys Uncertain significance Multiple submitters
USH2A p.Arg4848Trp Uncertain significance Multiple submitters
Usher syndrome type 2A
USH2A p.Arg5031Gln Uncertain significance Multiple submitters
inherited retinal dystrophy
USH2A p.Arg5108Trp Uncertain significance Multiple submitters
retinitis pigmentosa 39
USH2A p.Arg5116Cys Uncertain significance Multiple submitters
Inborn genetic diseases
USH2A p.Arg5119Gln Uncertain significance Multiple submitters
inherited retinal dystrophy
USH2A p.Arg5125Cys Uncertain significance Multiple submitters
retinitis pigmentosa 39
USH2A p.Arg5194Cys Uncertain significance Multiple submitters
Usher syndrome type 2A
USH2A p.Arg551His Uncertain significance Multiple submitters
Inborn genetic diseases
USH2A p.Arg562His Uncertain significance Multiple submitters
USH2A p.Arg63Gln Uncertain significance Multiple submitters
Usher syndrome type 2A
USH2A p.Arg63Pro Uncertain significance Multiple submitters
Usher syndrome type 2A
USH2A p.Arg671Lys Uncertain significance Multiple submitters
Inborn genetic diseases
USH2A p.Arg981Cys Uncertain significance Multiple submitters
Inborn genetic diseases
USH2A p.Arg981His Uncertain significance Multiple submitters
Inborn genetic diseases
USH2A p.Asn1003Ser Uncertain significance Multiple submitters
retinitis pigmentosa 39
USH2A p.Asn1071Ser Uncertain significance Multiple submitters
Usher syndrome type 2A
USH2A p.Asn1313Asp Uncertain significance Multiple submitters
Usher syndrome type 2A
USH2A p.Asn1379Ser Uncertain significance Multiple submitters
retinitis pigmentosa 39
USH2A p.Asn1565Asp Uncertain significance Multiple submitters
USH2A p.Asn1681Asp Uncertain significance Multiple submitters
Inborn genetic diseases
USH2A p.Asn1704Ile Uncertain significance Multiple submitters
retinitis pigmentosa 39
USH2A p.Asn1903Ser Uncertain significance Multiple submitters
Usher syndrome type 2A
USH2A p.Asn2014Lys Uncertain significance Multiple submitters
inherited retinal dystrophy
USH2A p.Asn2027Thr Uncertain significance Multiple submitters
retinitis pigmentosa 39
USH2A p.Asn2195Ser Uncertain significance Multiple submitters
inherited retinal dystrophy
USH2A p.Asn2285Ser Uncertain significance Multiple submitters
retinitis pigmentosa 39
USH2A p.Asn228Ser Uncertain significance Multiple submitters
USH2A p.Asn2651Asp Uncertain significance Multiple submitters
retinitis pigmentosa 39
USH2A p.Asn2851Asp Uncertain significance Multiple submitters
USH2A p.Asn2851Thr Uncertain significance Multiple submitters
Inborn genetic diseases
USH2A p.Asn2878Ser Uncertain significance Multiple submitters
USH2A p.Asn2906Tyr Uncertain significance Multiple submitters
Usher syndrome type 2A
USH2A p.Asn2930Ile Uncertain significance Multiple submitters
Inborn genetic diseases
USH2A p.Asn2930Lys Uncertain significance Multiple submitters
retinitis pigmentosa 39
USH2A p.Asn3032Ser Uncertain significance Multiple submitters
Inborn genetic diseases
USH2A p.Asn3512His Uncertain significance Multiple submitters
Usher syndrome type 2A
USH2A p.Asn3520Ser Uncertain significance Multiple submitters
retinitis pigmentosa 39
USH2A p.Asn357Asp Uncertain significance Multiple submitters
Inborn genetic diseases
USH2A p.Asn3738Ile Uncertain significance Multiple submitters
Usher syndrome type 2A
USH2A p.Asn4221Asp Uncertain significance Multiple submitters
Inborn genetic diseases
USH2A p.Asn4395Thr Uncertain significance Multiple submitters
Inborn genetic diseases
USH2A p.Asn443His Uncertain significance Multiple submitters
Usher syndrome type 2A
USH2A p.Asn4446Thr Uncertain significance Multiple submitters
USH2A p.Asn4469Ser Uncertain significance Multiple submitters
retinitis pigmentosa 39
USH2A p.Asn4597Ser Uncertain significance Multiple submitters
USH2A p.Asn4685Ile Uncertain significance Multiple submitters
Inborn genetic diseases
USH2A p.Asn4754Thr Uncertain significance Multiple submitters
Inborn genetic diseases
USH2A p.Asn4800Asp Uncertain significance Multiple submitters
Usher syndrome type 2A
USH2A p.Asn5090His Uncertain significance Multiple submitters
Inborn genetic diseases
USH2A p.Asn5097Ser Uncertain significance Multiple submitters
USH2A p.Asn5160Ser Uncertain significance Multiple submitters
Inborn genetic diseases
USH2A p.Asn571Ser Uncertain significance Multiple submitters
USH2A p.Asn682Lys Uncertain significance Multiple submitters
Usher syndrome type 2A
USH2A p.Asn760Ser Uncertain significance Multiple submitters
retinitis pigmentosa
USH2A p.Asp112Glu Uncertain significance Multiple submitters
Inborn genetic diseases
USH2A p.Asp1217Asn Uncertain significance Multiple submitters
Usher syndrome type 2A

Predictors split 99

The independent predictors disagree with each other — read with care.

USH2A p.His1608Arg Uncertain significance Expert panel
Usher syndrome
USH2A p.Leu1572Phe Likely benign Expert panel
Usher syndrome
USH2A p.Ala3846Val Uncertain significance Multiple submitters
Inborn genetic diseases
USH2A p.Ala4134Val Uncertain significance Multiple submitters
USH2A p.Arg4972Cys Uncertain significance Multiple submitters
Monogenic hearing loss
USH2A p.Asn1313Ser Uncertain significance Multiple submitters
Usher syndrome type 2A
USH2A p.Asn4762Lys Likely pathogenic Multiple submitters
Usher syndrome
USH2A p.Asp1889Gly Uncertain significance Multiple submitters
Usher syndrome type 2A
USH2A p.Asp3553Asn Pathogenic/Likely pathogenic Multiple submitters
Usher syndrome
USH2A p.Gln381Arg Uncertain significance Multiple submitters
Usher syndrome type 2A
USH2A p.Glu1985Lys Uncertain significance Multiple submitters
inherited retinal dystrophy
USH2A p.Gly1668Val Uncertain significance Multiple submitters
retinitis pigmentosa 39
USH2A p.Gly1761Glu Uncertain significance Multiple submitters
Usher syndrome type 2A
USH2A p.Gly1772Arg Uncertain significance Multiple submitters
USH2A p.Gly1792Glu Uncertain significance Multiple submitters
retinitis pigmentosa 39
USH2A p.Gly2707Glu Uncertain significance Multiple submitters
retinitis pigmentosa 39
USH2A p.Gly3546Arg Pathogenic/Likely pathogenic Multiple submitters
inherited retinal dystrophy
USH2A p.Gly4959Asp Uncertain significance Multiple submitters
Usher syndrome type 2A
USH2A p.Phe2910Leu Uncertain significance Multiple submitters
retinitis pigmentosa 39
USH2A p.Phe3080Leu Uncertain significance Multiple submitters
Inborn genetic diseases
USH2A p.Phe4223Leu Uncertain significance Multiple submitters
Inborn genetic diseases
USH2A p.Phe479Leu Uncertain significance Multiple submitters
USH2A p.Phe5037Leu Uncertain significance Multiple submitters
USH2A p.Pro1652Leu Uncertain significance Multiple submitters
inherited retinal dystrophy
USH2A p.Pro4601Leu Uncertain significance Multiple submitters
retinitis pigmentosa 39
USH2A p.Ser2712Asn Uncertain significance Multiple submitters
Usher syndrome type 2A
USH2A p.Thr3644Met Uncertain significance Multiple submitters
Usher syndrome type 2A
USH2A p.Tyr2566Cys Uncertain significance Multiple submitters
Inborn genetic diseases
USH2A p.Tyr2596Cys Uncertain significance Multiple submitters
Inborn genetic diseases
USH2A p.Tyr3083Phe Uncertain significance Multiple submitters
Inborn genetic diseases
USH2A p.Tyr556His Uncertain significance Multiple submitters
Usher syndrome type 2A
USH2A p.Ala1009Asp Conflicting Single submitter
inherited retinal dystrophy
USH2A p.Ala151Pro Uncertain significance Single submitter
USH2A p.Ala339Thr Uncertain significance Single submitter
USH2A p.Ala4354Pro Uncertain significance Single submitter
Inborn genetic diseases
USH2A p.Ala4423Thr Uncertain significance Single submitter
USH2A p.Ala4442Pro Uncertain significance Single submitter
USH2A p.Arg1504Ser Uncertain significance Single submitter
Inborn genetic diseases
USH2A p.Arg3545Pro Uncertain significance Single submitter
USH2A p.Arg4081Pro Uncertain significance Single submitter
Inborn genetic diseases
USH2A p.Arg4187Pro Likely pathogenic Single submitter
USH2A p.Asn1875Ser Conflicting Single submitter
Usher syndrome type 2A
USH2A p.Asn3528Lys Uncertain significance Single submitter
inherited retinal dystrophy
USH2A p.Asn42Lys Uncertain significance Single submitter
cone-rod dystrophy 3
USH2A p.Cys1195Arg Uncertain significance Single submitter
USH2A p.Cys3370Gly Uncertain significance Single submitter
USH2A p.Gln1586Arg Uncertain significance Single submitter
USH2A p.Gly1650Ala Conflicting Single submitter
retinitis pigmentosa
USH2A p.Gly1761Arg Uncertain significance Single submitter
USH2A p.Gly1871Asp Conflicting Single submitter
Childhood onset hearing loss
USH2A p.His213Leu Uncertain significance Single submitter
USH2A p.His213Tyr Uncertain significance Single submitter
retinitis pigmentosa
USH2A p.His3347Pro Uncertain significance Single submitter
USH2A p.Ile1557Thr Uncertain significance Single submitter
USH2A p.Ile3364Thr Uncertain significance Single submitter
USH2A p.Leu375Val Conflicting Single submitter
Inborn genetic diseases
USH2A p.Leu3834Met Uncertain significance Single submitter
USH2A p.Leu4499Val Uncertain significance Single submitter
USH2A p.Leu4822Pro Uncertain significance Single submitter
USH2A p.Lys47Asn Uncertain significance Single submitter
USH2A p.Met162Ile Uncertain significance Single submitter
USH2A p.Phe289Leu Uncertain significance Single submitter
Inborn genetic diseases
USH2A p.Phe4072Leu Uncertain significance Single submitter
Inborn genetic diseases
USH2A p.Phe4326Leu Uncertain significance Single submitter
USH2A p.Phe4589Leu Likely benign Single submitter
Usher syndrome type 2A
USH2A p.Phe4602Leu Pathogenic Single submitter
retinitis pigmentosa
USH2A p.Phe470Leu Uncertain significance Single submitter
USH2A p.Phe4955Leu Uncertain significance Single submitter
USH2A p.Pro1362Leu Uncertain significance Single submitter
retinitis pigmentosa 39
USH2A p.Pro2762Ala Conflicting Single submitter
retinitis pigmentosa 39
USH2A p.Pro341Ser Uncertain significance Single submitter
inherited retinal dystrophy
USH2A p.Pro4532Ala Uncertain significance Single submitter
USH2A p.Ser1741Phe Uncertain significance Single submitter
USH2A p.Ser1878Phe Uncertain significance Single submitter
USH2A p.Ser1942Asn Uncertain significance Single submitter
USH2A p.Ser2229Asn Uncertain significance Single submitter
USH2A p.Ser3477Pro Uncertain significance Single submitter
USH2A p.Ser3855Asn Uncertain significance Single submitter
Inborn genetic diseases
USH2A p.Ser4064Pro Uncertain significance Single submitter
USH2A p.Ser455Arg Uncertain significance Single submitter
USH2A p.Thr3635Pro Uncertain significance Single submitter
USH2A p.Tyr1757Cys Uncertain significance Single submitter
USH2A p.Tyr384Cys Uncertain significance Single submitter
USH2A p.Tyr4477Phe Uncertain significance Single submitter
USH2A p.Val1874Phe Uncertain significance Single submitter
USH2A p.Val2347Glu Pathogenic Single submitter
retinitis pigmentosa
USH2A p.Asp1747Val Uncertain significance No assertion criteria
Usher syndrome type 2A
USH2A p.Cys1186Ser Uncertain significance No assertion criteria
Usher syndrome type 2A
USH2A p.Cys3359Trp Uncertain significance No assertion criteria
Usher syndrome type 2A
USH2A p.Gly1761Val Uncertain significance No assertion criteria
Usher syndrome type 2A
USH2A p.Phe4847Ser Uncertain significance No assertion criteria
Usher syndrome type 2A
USH2A p.Phe735Leu Uncertain significance No assertion criteria
Usher syndrome type 2A
USH2A p.Pro1212Ser Uncertain significance No assertion criteria
Usher syndrome type 2A
USH2A p.Pro2448Ala Uncertain significance No assertion criteria
retinitis pigmentosa 39
USH2A p.Ser1051Arg Uncertain significance No assertion criteria
inherited retinal dystrophy
USH2A p.Ser2286Pro Uncertain significance No assertion criteria
Usher syndrome type 2A
USH2A p.Ser3578Asn Likely pathogenic No assertion criteria
retinitis pigmentosa
USH2A p.Tyr2214Asn Uncertain significance No assertion criteria
inherited retinal dystrophy
USH2A p.Tyr447Cys Uncertain significance No assertion criteria
retinitis pigmentosa 39

All USH2A variants

Pathogenic 876

Showing the top 300 by review status; the full set is in the sitemap.

c.12295-3T>A Expert panel Usher syndrome
c.8559-2A>G Expert panel Usher syndrome
c.8682-9A>G Expert panel Usher syndrome
p.Ala4740Asp Expert panel Usher syndrome ⚠
p.Arg1504fs Expert panel Usher syndrome
p.Arg3905Cys Expert panel Usher syndrome ⚠
p.Asn346His Expert panel Usher syndrome
p.Cys1447fs Expert panel Usher syndrome
p.Cys319Tyr Expert panel Usher syndrome
p.Cys620Phe Expert panel Usher syndrome
p.Cys759Phe Expert panel Usher syndrome
p.Gly1671Asp Expert panel inherited retinal dystrophy
p.Gly1861Ser Expert panel Usher syndrome ⚠
p.Ser1136Asn Expert panel Usher syndrome
c.10388-1G>A Multiple submitters Usher syndrome type 2A
c.10585+3A>G Multiple submitters Usher syndrome
c.11389+1G>A Multiple submitters Usher syndrome type 2A
c.11389+1G>C Multiple submitters retinitis pigmentosa 39
c.1144-2A>T Multiple submitters Usher syndrome type 2A
c.11548+2T>G Multiple submitters retinitis pigmentosa 39
c.11549-1G>A Multiple submitters inherited retinal dystrophy
c.12067-2A>G Multiple submitters Rare genetic deafness
c.14344-1G>T Multiple submitters USH2A-related disorder
c.1645-2A>G Multiple submitters Usher syndrome type 2A
c.1841-2A>G Multiple submitters Rare genetic deafness
c.2168-1G>C Multiple submitters inherited retinal dystrophy
c.2168-2A>C Multiple submitters Usher syndrome type 2A
c.3317-2A>G Multiple submitters USH2A-related disorder
c.4628-2A>T Multiple submitters retinitis pigmentosa 39
c.4758+1G>A Multiple submitters Usher syndrome type 2A
c.486-1G>C Multiple submitters Rare genetic deafness
c.5776+1G>A Multiple submitters Rare genetic deafness
c.5776+2T>C Multiple submitters inherited retinal dystrophy
c.5777-1G>A Multiple submitters USH2A-related disorder
c.6325+1G>A Multiple submitters Usher syndrome type 2A
c.6485+5G>A Multiple submitters retinitis pigmentosa 39
c.6657+1G>A Multiple submitters Usher syndrome type 2A
c.8224-1G>C Multiple submitters USH2A-related disorder
c.852_853del Multiple submitters USH2A-related disorder
c.8681+1G>T Multiple submitters inherited retinal dystrophy
c.8681+2T>C Multiple submitters retinitis pigmentosa 39
c.8682-1G>A Multiple submitters inherited retinal dystrophy
c.9371+1G>A Multiple submitters retinitis pigmentosa 39
c.9371+1G>C Multiple submitters Rare genetic deafness
c.9371+1G>T Multiple submitters USH2A-related disorder
c.9570+1G>A Multiple submitters USH2A-related disorder
c.9570+1G>T Multiple submitters Usher syndrome type 2A
c.9959-1G>C Multiple submitters USH2A-related disorder
p.Ala1241fs Multiple submitters USH2A-related disorder
p.Ala4678fs Multiple submitters Rare genetic deafness
p.Arg1295Ter Multiple submitters Usher syndrome
p.Arg1549Ter Multiple submitters USH2A-related disorder
p.Arg1653Ter Multiple submitters inherited retinal dystrophy
p.Arg1946Ter Multiple submitters USH2A-related disorder
p.Arg2343fs Multiple submitters Usher syndrome type 2
p.Arg2509fs Multiple submitters USH2A-related disorder
p.Arg2723Ter Multiple submitters inherited retinal dystrophy
p.Arg274Ter Multiple submitters Rare genetic deafness
p.Arg317= Multiple submitters Monogenic hearing loss
p.Arg3226Ter Multiple submitters retinitis pigmentosa 39
p.Arg3538Ter Multiple submitters Usher syndrome
p.Arg3689Ter Multiple submitters Usher syndrome type 2A
p.Arg4526Ter Multiple submitters retinitis pigmentosa 39
p.Arg4935Ter Multiple submitters USH2A-related disorder
p.Arg626Ter Multiple submitters USH2A-related disorder
p.Arg63Ter Multiple submitters Usher syndrome
p.Arg737Ter Multiple submitters USH2A-related disorder
p.Asn1379fs Multiple submitters Rare genetic deafness
p.Asn2710fs Multiple submitters Usher syndrome type 2A
p.Asn405fs Multiple submitters USH2A-related disorder
p.Asn4079fs Multiple submitters inherited retinal dystrophy
p.Asn4812_Cys4813insTer Multiple submitters Monogenic hearing loss
p.Asn960fs Multiple submitters USH2A-related disorder
p.Cys135fs Multiple submitters
p.Cys3090Ter Multiple submitters inherited retinal dystrophy
p.Cys3153Ter Multiple submitters Rare genetic deafness
p.Cys3180fs Multiple submitters Usher syndrome type 2A
p.Cys419Phe Multiple submitters Autosomal recessive USH2A-related disorders
p.Cys4236Ter Multiple submitters USH2A-related disorder
p.Cys536Arg Multiple submitters Usher syndrome
p.Cys676Ter Multiple submitters USH2A-related disorder
p.Cys691Ter Multiple submitters USH2A-related disorder
p.Cys717Ser Multiple submitters Usher syndrome
p.Gln1063fs Multiple submitters Usher syndrome
p.Gln1221Ter Multiple submitters Usher syndrome
p.Gln1244Ter Multiple submitters retinitis pigmentosa 39
p.Gln1408Ter Multiple submitters USH2A-related disorder
p.Gln1469Ter Multiple submitters Usher syndrome type 2A
p.Gln159Ter Multiple submitters USH2A-related disorder
p.Gln1786Ter Multiple submitters Usher syndrome type 2A
p.Gln2501Ter Multiple submitters ear malformation
p.Gln2862Ter Multiple submitters Usher syndrome type 2A
p.Gln3102Ter Multiple submitters USH2A-related disorder
p.Gln3228Ter Multiple submitters Usher syndrome type 2
p.Gln3292Ter Multiple submitters Usher syndrome type 2A
p.Gln3500Ter Multiple submitters inherited retinal dystrophy
p.Gln3526Ter Multiple submitters USH2A-related disorder
p.Gln3566_Leu3567insTer Multiple submitters retinitis pigmentosa 39
p.Gln3716Ter Multiple submitters retinitis pigmentosa 39
p.Gln3732Ter Multiple submitters Usher syndrome type 2A
p.Gln3845Ter Multiple submitters retinitis pigmentosa 39
p.Gln4235Ter Multiple submitters USH2A-related disorder
p.Gln4290Ter Multiple submitters Rare genetic deafness
p.Gln4541Ter Multiple submitters retinitis pigmentosa 39
p.Gln4711Ter Multiple submitters inherited retinal dystrophy
p.Gln4750Ter Multiple submitters Rare genetic deafness
p.Gln4789Ter Multiple submitters Usher syndrome type 2A
p.Gln540Ter Multiple submitters USH2A-related disorder
p.Glu1202Ter Multiple submitters retinitis pigmentosa 39
p.Glu1404Ter Multiple submitters Usher syndrome type 2
p.Glu1492Ter Multiple submitters Usher syndrome type 2A
p.Glu1913Ter Multiple submitters Usher syndrome type 2A
p.Glu2242Ter Multiple submitters Usher syndrome type 2A
p.Glu2288Ter Multiple submitters USH2A-related disorder
p.Glu2625Ter Multiple submitters Usher syndrome type 2A
p.Glu2668Ter Multiple submitters retinitis pigmentosa 39
p.Glu3107Ter Multiple submitters Usher syndrome
p.Glu3542fs Multiple submitters USH2A-related disorder
p.Glu3562Ter Multiple submitters USH2A-related disorder
p.Glu4034Ter Multiple submitters Usher syndrome
p.Glu4571Ter Multiple submitters Rare genetic deafness
p.Glu4701Ter Multiple submitters Usher syndrome type 2A
p.Glu4884Ter Multiple submitters retinitis pigmentosa
p.Gly1227fs Multiple submitters retinitis pigmentosa 39
p.Gly1526Arg Multiple submitters USH2A-related disorder ⚠
p.Gly1645Ter Multiple submitters USH2A-related disorder
p.Gly268Arg Multiple submitters USH2A-related disorder
p.Gly3814Ter Multiple submitters Rare genetic deafness
p.Gly4489Ser Multiple submitters retinitis pigmentosa 39 ⚠
p.Gly602fs Multiple submitters USH2A-related disorder
p.Gly679Ter Multiple submitters retinitis pigmentosa 39
p.His2302fs Multiple submitters Usher syndrome type 2A
p.His308fs Multiple submitters Rare genetic deafness
p.Ile1740fs Multiple submitters Usher syndrome type 2A
p.Ile3055fs Multiple submitters Usher syndrome type 2A
p.Leu1089fs Multiple submitters Usher syndrome type 2A
p.Leu1556Ter Multiple submitters Usher syndrome
p.Leu2319fs Multiple submitters retinitis pigmentosa 39
p.Leu2395fs Multiple submitters USH2A-related disorder
p.Leu2485Ter Multiple submitters Usher syndrome type 2A
p.Leu4058Ter Multiple submitters retinitis pigmentosa 39
p.Leu4132fs Multiple submitters retinitis pigmentosa 39
p.Leu4567fs Multiple submitters retinitis pigmentosa 39
p.Lys3158fs Multiple submitters Usher syndrome type 2A
p.Lys3397fs Multiple submitters Rare genetic deafness
p.Lys665Ter Multiple submitters Rare genetic deafness
p.Met1731fs Multiple submitters Usher syndrome type 2A
p.Met19fs Multiple submitters retinitis pigmentosa
p.Met3271fs Multiple submitters retinitis pigmentosa 39
p.Met4535fs Multiple submitters Usher syndrome type 2A
p.Phe1442Ser Multiple submitters Usher syndrome
p.Phe4993fs Multiple submitters retinitis pigmentosa
p.Pro3404fs Multiple submitters Usher syndrome type 2A
p.Pro3804fs Multiple submitters Rare genetic deafness
p.Pro4704fs Multiple submitters USH2A-related disorder
p.Pro560fs Multiple submitters USH2A-related disorder
p.Ser1307Ter Multiple submitters inherited retinal dystrophy
p.Ser1406Ter Multiple submitters Usher syndrome
p.Ser180Pro Multiple submitters Usher syndrome
p.Ser2043fs Multiple submitters Usher syndrome type 2
p.Ser2490fs Multiple submitters USH2A-related disorder
p.Ser259fs Multiple submitters USH2A-related disorder
p.Ser3186fs Multiple submitters USH2A-related disorder
p.Ser343fs Multiple submitters retinitis pigmentosa 39
p.Ser391Ile Multiple submitters Usher syndrome type 2A
p.Ser4054fs Multiple submitters retinal disorder
p.Ser5030Ter Multiple submitters USH2A-related disorder
p.Thr1128fs Multiple submitters Usher syndrome type 2A
p.Thr1462fs Multiple submitters USH2A-related disorder
p.Thr1785fs Multiple submitters USH2A-related disorder
p.Thr2743_Trp2744insTer Multiple submitters retinitis pigmentosa 39
p.Thr2991fs Multiple submitters USH2A-related disorder
p.Thr3156fs Multiple submitters retinitis pigmentosa 39
p.Thr4347fs Multiple submitters Usher syndrome type 2A
p.Thr5035fs Multiple submitters USH2A-related disorder
p.Thr5135fs Multiple submitters retinitis pigmentosa 39
p.Thr967fs Multiple submitters USH2A-related disorder
p.Trp1263Ter Multiple submitters Usher syndrome type 2A
p.Trp1607Arg Multiple submitters USH2A-related disorder
p.Trp1800Ter Multiple submitters Usher syndrome
p.Trp2075Ter Multiple submitters Rare genetic deafness
p.Trp211Ter Multiple submitters Usher syndrome
p.Trp2133Ter Multiple submitters inherited retinal dystrophy
p.Trp2163Ter Multiple submitters Usher syndrome
p.Trp2455Ter Multiple submitters Usher syndrome type 2A
p.Trp2523Ter Multiple submitters retinitis pigmentosa 39
p.Trp2693Ter Multiple submitters Usher syndrome type 2A
p.Trp2714Ter Multiple submitters Usher syndrome type 2A
p.Trp2744Ter Multiple submitters Usher syndrome type 2A
p.Trp2876Ter Multiple submitters retinitis pigmentosa 39
p.Trp2945Ter Multiple submitters inherited retinal dystrophy
p.Trp3130Ter Multiple submitters
p.Trp3150Ter Multiple submitters USH2A-related disorder
p.Trp3918Ter Multiple submitters USH2A-related disorder
p.Trp3955Ter Multiple submitters Monogenic hearing loss
p.Trp409Ter Multiple submitters inherited retinal dystrophy
p.Trp4243Ter Multiple submitters USH2A-related disorder
p.Trp4285Ter Multiple submitters USH2A-related disorder
p.Trp4376Ter Multiple submitters Usher syndrome type 2A
p.Trp4725Ter Multiple submitters retinitis pigmentosa 39
p.Tyr1103Ter Multiple submitters Rare genetic deafness
p.Tyr1109Ter Multiple submitters inherited retinal dystrophy
p.Tyr1569Ter Multiple submitters USH2A-related disorder
p.Tyr2028Ter Multiple submitters Usher syndrome type 2A
p.Tyr3654Ter Multiple submitters retinitis pigmentosa 39
p.Tyr3745Ter Multiple submitters Usher syndrome type 2
p.Tyr3776Ter Multiple submitters retinitis pigmentosa 39
p.Tyr3900Ter Multiple submitters Usher syndrome type 2A
p.Tyr3903Ter Multiple submitters Usher syndrome type 2A
p.Tyr3938fs Multiple submitters inherited retinal dystrophy
p.Tyr4031Ter Multiple submitters
p.Tyr4238Ter Multiple submitters Rare genetic deafness
p.Tyr4273Ter Multiple submitters retinitis pigmentosa 39
p.Tyr4318Ter Multiple submitters retinitis pigmentosa 39
p.Tyr4329Ter Multiple submitters Usher syndrome type 2A
p.Tyr507_Ala508delinsTer Multiple submitters Usher syndrome type 2
p.Val1147fs Multiple submitters Rare genetic deafness
p.Val2010fs Multiple submitters retinitis pigmentosa 39
p.Val2732fs Multiple submitters retinitis pigmentosa 39
p.Val2908fs Multiple submitters inherited retinal dystrophy
p.Val4745fs Multiple submitters USH2A-related disorder
p.Val4946fs Multiple submitters Usher syndrome type 2A
c.10741-2A>T Single submitter
c.10939+2T>C Single submitter
c.11048-?_11711+?dup Single submitter Rare genetic deafness
c.11389+2T>C Single submitter
c.11389+2T>G Single submitter
c.11390-1G>A Single submitter Usher syndrome
c.1143+2T>G Single submitter
c.1144-1G>A Single submitter retinitis pigmentosa 39
c.11549-1G>T Single submitter
c.11549-5_11549delinsC Single submitter
c.12067-1G>A Single submitter Usher syndrome type 2A
c.12067-2A>C Single submitter
c.12294+2T>C Single submitter
c.12295-1344_14133+1996del Single submitter retinitis pigmentosa 39
c.12295-2A>T Single submitter Usher syndrome type 2A
c.12497_13811+148del Single submitter
c.1328+1G>C Single submitter
c.13811+1del Single submitter Usher syndrome type 2A
c.13811+2T>C Single submitter Usher syndrome type 2A
c.13811+2T>G Single submitter USH2A-related disorder
c.13812-1G>T Single submitter
c.14133+1G>A Single submitter retinitis pigmentosa 39
c.14133+1G>T Single submitter inherited retinal dystrophy
c.14134-1G>T Single submitter Usher syndrome type 2A
c.14343+1G>A Single submitter
c.14582+1G>A Single submitter
c.14791+1G>A Single submitter
c.14791+2T>C Single submitter retinitis pigmentosa 39
c.14792-1G>A Single submitter
c.15053-2A>C Single submitter
c.15307_15519+114delinsTGAGAAGTGCCAGTGAGGTAGTAACTAAGTGCTAAGT Single submitter
c.1644+4A>G Single submitter
c.(?_1645 Single submitter Rare genetic deafness
c.1645-1G>C Single submitter Usher syndrome type 2A
c.1645-2A>T Single submitter
c.1840+1G>T Single submitter
c.(2809+1_2810-1 Single submitter inherited retinal dystrophy
c.2994-1G>A Single submitter
c.3158-2A>G Single submitter Usher syndrome type 2A
c.3317-2A>C Single submitter
c.4396+1_4396+2delinsTG Single submitter Usher syndrome type 2A
c.4396+2T>C Single submitter
c.(4627+1_4628-1 Single submitter inherited retinal dystrophy
c.(?_4628 Single submitter
c.(?_4628 Single submitter Usher syndrome
c.4628-30483_6325+8825del Single submitter
c.(4758+1_4759-1 Single submitter inherited retinal dystrophy
c.4759-2A>G Single submitter
c.5298+1G>C Single submitter Usher syndrome
c.5298+2T>C Single submitter retinitis pigmentosa 39
c.5776+2T>G Single submitter
c.5777-1G>T Single submitter
c.5857+1del Single submitter
c.6325+1G>C Single submitter Usher syndrome type 2A
c.6486-1G>C Single submitter Usher syndrome type 2A
c.6657+2T>G Single submitter
c.6805+1G>A Single submitter Usher syndrome type 2A
c.6806-2A>T Single submitter Usher syndrome type 2A
c.(?_7301 Single submitter Rare genetic deafness
c.7301-2A>C Single submitter
c.784+1G>T Single submitter
c.(?_785 Single submitter Rare genetic deafness
c.8224-1G>A Single submitter
c.8224-1G>T Single submitter
c.8224-6T>C Single submitter Usher syndrome type 2A
c.8462_12066+14961dup Single submitter
c.(8681+1_8682-1 Single submitter inherited retinal dystrophy
c.(?_8682 Single submitter Rare genetic deafness
c.8682-3_8682-1delinsAA Single submitter retinitis pigmentosa 39
c.8932_8933insSVAelement Single submitter
c.9570+1_9570+5del Single submitter
c.9571-2A>C Single submitter Usher syndrome type 2A
p.(? Single submitter Rare genetic deafness
p.Ala1711fs Single submitter Usher syndrome type 2A
p.Ala1872_Val1873insSer Single submitter USH2A-related disorder
p.Ala1872fs Single submitter
p.Ala2081fs Single submitter
p.Ala2623fs Single submitter

Pathogenic/Likely pathogenic 425

Showing the top 300 by review status; the full set is in the sitemap.

c.10183-2A>G Multiple submitters USH2A-related disorder
c.10388-2A>G Multiple submitters Usher syndrome type 2A
c.10585+1G>A Multiple submitters Usher syndrome type 2A
c.10586-2A>G Multiple submitters inherited retinal dystrophy
c.10741-1G>T Multiple submitters retinitis pigmentosa 39
c.10939+2T>G Multiple submitters Usher syndrome type 2A
c.11047+1G>A Multiple submitters USH2A-related disorder
c.11048-2A>G Multiple submitters USH2A-related disorder
c.11231+1G>A Multiple submitters Usher syndrome type 2A
c.11232-2A>G Multiple submitters retinitis pigmentosa 39
c.11389+1del Multiple submitters retinitis pigmentosa 39
c.11389+1G>T Multiple submitters retinitis pigmentosa 39
c.11389+3A>T Multiple submitters retinal disorder
c.1143+1G>A Multiple submitters Rare genetic deafness
c.11549del Multiple submitters retinitis pigmentosa 39
c.12067-1G>C Multiple submitters Rare genetic deafness
c.12294+1G>C Multiple submitters Rare genetic deafness
c.12295-2A>G Multiple submitters Rare genetic deafness
c.13811+1G>A Multiple submitters Usher syndrome
c.13812-1G>A Multiple submitters inherited retinal dystrophy
c.14134-3169A>G Multiple submitters Usher syndrome
c.14582+1G>C Multiple submitters USH2A-related disorder
c.14583-1G>T Multiple submitters retinitis pigmentosa 39
c.14791+2T>A Multiple submitters USH2A-related disorder
c.14791+4A>G Multiple submitters USH2A-related disorder
c.14791+5G>T Multiple submitters USH2A-related disorder
c.14792-2A>G Multiple submitters Usher syndrome
c.15053-2A>G Multiple submitters USH2A-related disorder
c.15297+1G>C Multiple submitters USH2A-related disorder
c.1644+1G>A Multiple submitters Usher syndrome type 2A
c.1645-2A>C Multiple submitters inherited retinal dystrophy
c.1841-1G>A Multiple submitters Usher syndrome type 2A
c.1972-1G>A Multiple submitters USH2A-related disorder
c.2167+5G>A Multiple submitters Usher syndrome
c.2168-2A>G Multiple submitters retinitis pigmentosa
c.2993+1G>A Multiple submitters USH2A-related disorder
c.3317-1G>A Multiple submitters Usher syndrome type 2A
c.3812-2A>G Multiple submitters retinitis pigmentosa
c.4082-1G>A Multiple submitters USH2A-related disorder
c.4251+1del Multiple submitters Usher syndrome
c.4251+1G>A Multiple submitters Usher syndrome type 2A
c.4251+1G>T Multiple submitters retinitis pigmentosa 39
c.4397-1G>A Multiple submitters Usher syndrome
c.4628-2A>G Multiple submitters retinitis pigmentosa 39
c.4758+1del Multiple submitters retinitis pigmentosa 39
c.486-14G>A Multiple submitters USH2A-related disorder
c.5167+1G>T Multiple submitters Usher syndrome type 2A
c.5572+1G>A Multiple submitters USH2A-related disorder
c.5573-2A>G Multiple submitters USH2A-related disorder
c.5573-834A>G Multiple submitters LOC102723833 & USH2A-related disorders
c.5777-2A>C Multiple submitters Usher syndrome type 2
c.5857+1G>C Multiple submitters USH2A-related disorder
c.5858-1G>A Multiple submitters USH2A-related disorder
c.6050-1G>A Multiple submitters retinitis pigmentosa 39
c.6050-2A>G Multiple submitters Usher syndrome type 2A
c.6326-1G>T Multiple submitters retinitis pigmentosa 39
c.6485+1G>A Multiple submitters Usher syndrome type 2A
c.651+1G>A Multiple submitters Usher syndrome
c.6657+2T>C Multiple submitters retinitis pigmentosa 39
c.6805+1G>T Multiple submitters Usher syndrome type 2A
c.7300+1G>T Multiple submitters Usher syndrome type 2A
c.7301-1G>A Multiple submitters retinitis pigmentosa 39
c.7594+1G>A Multiple submitters Usher syndrome
c.7595-2144A>G Multiple submitters Monogenic hearing loss
c.7595-3C>G Multiple submitters Monogenic hearing loss
c.8223+1G>T Multiple submitters retinitis pigmentosa 39
c.850_853del Multiple submitters Usher syndrome type 2A
c.8558+1G>T Multiple submitters USH2A-related disorder
c.8559-1G>T Multiple submitters retinitis pigmentosa 39
c.8681+1G>A Multiple submitters USH2A-related disorder
c.8681+1G>C Multiple submitters USH2A-related disorder
c.8682-2A>C Multiple submitters USH2A-related disorder
c.8845+2T>G Multiple submitters Usher syndrome type 2A
c.9055+1del Multiple submitters Inborn genetic diseases
c.9056-2A>G Multiple submitters retinitis pigmentosa 39
c.9258+1G>A Multiple submitters USH2A-related disorder
c.9258+1G>T Multiple submitters Usher syndrome
c.9571-2A>G Multiple submitters Usher syndrome
c.9959-4159A>G Multiple submitters Usher syndrome
p.Ala1214fs Multiple submitters retinitis pigmentosa 39
p.Ala1312fs Multiple submitters inherited retinal dystrophy
p.Ala2122fs Multiple submitters Usher syndrome type 2A
p.Ala2311fs Multiple submitters USH2A-related disorder
p.Ala3944Asp Multiple submitters Usher syndrome
p.Arg1578Cys Multiple submitters USH2A-related disorder ⚠
p.Arg1777Trp Multiple submitters retinitis pigmentosa 39 ⚠
p.Arg1930Ter Multiple submitters Rare genetic deafness
p.Arg1946fs Multiple submitters USH2A-related disorder
p.Arg205fs Multiple submitters USH2A-related disorder
p.Arg2323Ter Multiple submitters Usher syndrome
p.Arg2354fs Multiple submitters inherited retinal dystrophy
p.Arg2509Trp Multiple submitters USH2A-related disorder ⚠
p.Arg274Gly Multiple submitters Usher syndrome
p.Arg2853Ter Multiple submitters USH2A-related disorder
p.Arg2894Lys Multiple submitters Usher syndrome type 2A ⚠
p.Arg2914Ter Multiple submitters USH2A-related disorder
p.Arg303His Multiple submitters Usher syndrome ⚠
p.Arg303Ser Multiple submitters USH2A-related disorder
p.Arg334Gln Multiple submitters inherited retinal dystrophy ⚠
p.Arg334Trp Multiple submitters Rare genetic deafness ⚠
p.Arg3484Ter Multiple submitters USH2A-related disorder
p.Arg34fs Multiple submitters Inborn genetic diseases
p.Arg34Ter Multiple submitters Usher syndrome
p.Arg3719His Multiple submitters Usher syndrome ⚠
p.Arg4092fs Multiple submitters Usher syndrome type 2A
p.Arg4137fs Multiple submitters USH2A-related disorder
p.Arg4192His Multiple submitters retinitis pigmentosa ⚠
p.Arg4608Ter Multiple submitters inherited retinal dystrophy
p.Arg464Cys Multiple submitters Usher syndrome
p.Arg464His Multiple submitters Usher syndrome type 2A ⚠
p.Arg4971Ter Multiple submitters Rare genetic deafness
p.Arg5108fs Multiple submitters Usher syndrome type 2A
p.Asn1635fs Multiple submitters USH2A-related disorder
p.Asn2377fs Multiple submitters Usher syndrome type 2A
p.Asn330Ter Multiple submitters retinitis pigmentosa 39
p.Asn443fs Multiple submitters USH2A-related disorder
p.Asn4762fs Multiple submitters retinitis pigmentosa 39
p.Asn4762Ser Multiple submitters retinitis pigmentosa 39 ⚠
p.Asp1101fs Multiple submitters Usher syndrome type 2A
p.Asp1760fs Multiple submitters USH2A-related disorder
p.Asp233fs Multiple submitters Usher syndrome
p.Asp2436fs Multiple submitters retinitis pigmentosa 39
p.Asp272fs Multiple submitters Usher syndrome type 2A
p.Asp3129fs Multiple submitters retinitis pigmentosa 39
p.Asp347Gly Multiple submitters Usher syndrome type 2A
p.Asp3553Asn Multiple submitters Usher syndrome ⚠
p.Asp4448_Ser4449del Multiple submitters USH2A-related disorder
p.Cys1002fs Multiple submitters Usher syndrome type 2A
p.Cys1186fs Multiple submitters Rare genetic deafness
p.Cys2309Phe Multiple submitters inherited retinal dystrophy
p.Cys2603Ter Multiple submitters retinitis pigmentosa 39
p.Cys3168Ter Multiple submitters retinitis pigmentosa 39
p.Cys3173_Gln3174delinsTer Multiple submitters Usher syndrome type 2A
p.Cys3267Arg Multiple submitters USH2A-related disorder
p.Cys3358Ter Multiple submitters Usher syndrome
p.Cys3358Tyr Multiple submitters USH2A-related disorder
p.Cys3399Ter Multiple submitters retinitis pigmentosa
p.Cys3444Tyr Multiple submitters retinitis pigmentosa 39 ⚠
p.Cys3575Tyr Multiple submitters Rare genetic deafness
p.Cys3666Gly Multiple submitters Usher syndrome
p.Cys3666Ter Multiple submitters USH2A-related disorder
p.Cys3852Ter Multiple submitters USH2A-related disorder
p.Cys4194Arg Multiple submitters USH2A-related disorder ⚠
p.Cys4405Ter Multiple submitters retinitis pigmentosa 39
p.Cys4424Ter Multiple submitters retinitis pigmentosa 39
p.Cys520fs Multiple submitters retinitis pigmentosa 39
p.Cys536Ser Multiple submitters retinitis pigmentosa
p.Cys575Tyr Multiple submitters inherited retinal dystrophy
p.Cys643fs Multiple submitters retinitis pigmentosa 39
p.Cys655Arg Multiple submitters Usher syndrome
p.Cys717Gly Multiple submitters Usher syndrome
p.Cys729Ter Multiple submitters USH2A-related disorder
p.Cys766Arg Multiple submitters USH2A-related disorder
p.Cys766Tyr Multiple submitters USH2A-related disorder
p.Cys768fs Multiple submitters USH2A-related disorder
p.Cys768Ter Multiple submitters USH2A-related disorder
p.Cys88Ter Multiple submitters USH2A-related disorder
p.Gln1056Ter Multiple submitters retinitis pigmentosa 39
p.Gln1417His Multiple submitters inherited retinal dystrophy ⚠
p.Gln15Ter Multiple submitters Usher syndrome
p.Gln1829Ter Multiple submitters retinitis pigmentosa 39
p.Gln1844Ter Multiple submitters retinitis pigmentosa 39
p.Gln1851fs Multiple submitters retinitis pigmentosa 39
p.Gln1922Ter Multiple submitters Usher syndrome type 2A
p.Gln2060fs Multiple submitters retinitis pigmentosa 39
p.Gln217Ter Multiple submitters USH2A-related disorder
p.Gln2201Ter Multiple submitters USH2A-related disorder
p.Gln2206Ter Multiple submitters USH2A-related disorder
p.Gln2307fs Multiple submitters retinitis pigmentosa 39
p.Gln2411Ter Multiple submitters Usher syndrome type 2A
p.Gln265Ter Multiple submitters retinitis pigmentosa 39
p.Gln2778Ter Multiple submitters retinitis pigmentosa 39
p.Gln299fs Multiple submitters retinitis pigmentosa 39
p.Gln3086His Multiple submitters Usher syndrome
p.Gln3157Ter Multiple submitters Usher syndrome
p.Gln3231Ter Multiple submitters Usher syndrome
p.Gln3255Ter Multiple submitters retinitis pigmentosa 39
p.Gln3326Ter Multiple submitters retinitis pigmentosa 39
p.Gln3587Ter Multiple submitters Rare genetic deafness
p.Gln364Ter Multiple submitters Monogenic hearing loss
p.Gln3839Ter Multiple submitters retinitis pigmentosa 39
p.Gln3959fs Multiple submitters USH2A-related disorder
p.Gln4231Ter Multiple submitters USH2A-related disorder
p.Gln4334Ter Multiple submitters USH2A-related disorder
p.Gln4371fs Multiple submitters Usher syndrome
p.Gln4662fs Multiple submitters retinitis pigmentosa 39
p.Gln4680Ter Multiple submitters USH2A-related disorder
p.Gln484Ter Multiple submitters USH2A-related disorder
p.Gln4900Ter Multiple submitters Inborn genetic diseases
p.Gln5138Ter Multiple submitters retinitis pigmentosa 39
p.Gln5147Ter Multiple submitters retinitis pigmentosa 39
p.Gln675Ter Multiple submitters Usher syndrome type 2A
p.Gln677Ter Multiple submitters USH2A-related disorder
p.Gln765Ter Multiple submitters retinitis pigmentosa 39
p.Glu1426fs Multiple submitters Usher syndrome type 2A
p.Glu1856Ter Multiple submitters inherited retinal dystrophy
p.Glu1918Ter Multiple submitters USH2A-related disorder
p.Glu1926Lys Multiple submitters Usher syndrome type 2A ⚠
p.Glu2054fs Multiple submitters USH2A-related disorder
p.Glu2174Ter Multiple submitters retinitis pigmentosa 39
p.Glu2238fs Multiple submitters USH2A-related disorder
p.Glu2265_Tyr2266delinsAsp Multiple submitters USH2A-related disorder
p.Glu2288fs Multiple submitters Usher syndrome type 2A
p.Glu2530fs Multiple submitters retinitis pigmentosa 39
p.Glu2667Ter Multiple submitters retinitis pigmentosa 39
p.Glu2697Ter Multiple submitters USH2A-related disorder
p.Glu3209Ter Multiple submitters retinitis pigmentosa 39
p.Glu3305fs Multiple submitters retinitis pigmentosa 39
p.Glu3442Ter Multiple submitters USH2A-related disorder
p.Glu3448Lys Multiple submitters Usher syndrome ⚠
p.Glu3699Ter Multiple submitters retinitis pigmentosa 39
p.Glu3730fs Multiple submitters USH2A-related disorder
p.Glu4051fs Multiple submitters USH2A-related disorder
p.Glu4051Ter Multiple submitters Usher syndrome type 2A
p.Glu4078Ter Multiple submitters USH2A-related disorder
p.Glu410Ter Multiple submitters Usher syndrome type 2A
p.Glu4445_Asn4446delinsAsp Multiple submitters USH2A-related disorder
p.Glu4445_Met4447del Multiple submitters inherited retinal dystrophy
p.Glu4445_Ser4449delinsAspLeu Multiple submitters retinitis pigmentosa 39
p.Glu4784Ter Multiple submitters USH2A-related disorder
p.Glu4921Ter Multiple submitters USH2A-related disorder
p.Glu4930fs Multiple submitters USH2A-related disorder
p.Glu4963fs Multiple submitters Usher syndrome
p.Glu609Ter Multiple submitters Usher syndrome type 2A
p.Gly1392Ter Multiple submitters inherited retinal dystrophy
p.Gly1723Arg Multiple submitters Usher syndrome
p.Gly1968Ter Multiple submitters Usher syndrome type 2A
p.Gly2225fs Multiple submitters retinitis pigmentosa 39
p.Gly2313Cys Multiple submitters inherited retinal dystrophy
p.Gly2390Ter Multiple submitters USH2A-related disorder
p.Gly257Arg Multiple submitters USH2A-related disorder
p.Gly2607fs Multiple submitters
p.Gly2752Arg Multiple submitters Usher syndrome
p.Gly2799fs Multiple submitters Usher syndrome
p.Gly2891fs Multiple submitters Usher syndrome
p.Gly3142Ter Multiple submitters USH2A-related disorder
p.Gly3320Cys Multiple submitters retinitis pigmentosa 39
p.Gly3529Ser Multiple submitters USH2A-related disorder ⚠
p.Gly3546Arg Multiple submitters inherited retinal dystrophy ⚠
p.Gly3546Ter Multiple submitters retinitis pigmentosa
p.Gly3574Val Multiple submitters retinitis pigmentosa
p.Gly4068Ter Multiple submitters USH2A-related disorder
p.Gly4095Asp Multiple submitters inherited retinal dystrophy
p.Gly4095Ser Multiple submitters USH2A-related disorder
p.Gly4516Ala Multiple submitters Usher syndrome
p.Gly4516Glu Multiple submitters USH2A-related disorder
p.Gly4616Val Multiple submitters Usher syndrome
p.Gly466Val Multiple submitters Usher syndrome type 2A
p.Gly4763Glu Multiple submitters USH2A-related disorder
p.Gly516Val Multiple submitters Usher syndrome
p.Gly614fs Multiple submitters USH2A-related disorder
p.Gly700fs Multiple submitters retinitis pigmentosa 39
p.Gly713= Multiple submitters USH2A-related disorder
p.Gly743fs Multiple submitters Usher syndrome type 2A
p.His3287fs Multiple submitters Usher syndrome
p.His3607Pro Multiple submitters Usher syndrome ⚠
p.His3825fs Multiple submitters USH2A-related disorder
p.His4029fs Multiple submitters retinitis pigmentosa 39
p.His4581fs Multiple submitters USH2A-related disorder
p.His490fs Multiple submitters Usher syndrome type 2A
p.Ile1234fs Multiple submitters USH2A-related disorder
p.Ile1399fs Multiple submitters Rare genetic deafness
p.Ile1557fs Multiple submitters Usher syndrome
p.Ile3103fs Multiple submitters retinitis pigmentosa 39
p.Ile3118fs Multiple submitters USH2A-related disorder
p.Ile3620Thr Multiple submitters inherited retinal dystrophy
p.Ile397Lys Multiple submitters retinitis pigmentosa 39
p.Ile4764fs Multiple submitters retinitis pigmentosa 39
p.Leu1229Ter Multiple submitters Usher syndrome type 2A
p.Leu1278_Tyr1279insTer Multiple submitters Usher syndrome type 2A
p.Leu1378Pro Multiple submitters USH2A-related disorder
p.Leu1493fs Multiple submitters retinitis pigmentosa 39
p.Leu150Ter Multiple submitters USH2A-related disorder
p.Leu2096_Ile2097insTer Multiple submitters Rare genetic deafness
p.Leu2541fs Multiple submitters Usher syndrome
p.Leu280Phe Multiple submitters Usher syndrome
p.Leu2827Ter Multiple submitters Usher syndrome type 2A
p.Leu2873Ter Multiple submitters USH2A-related disorder
p.Leu2973fs Multiple submitters Usher syndrome type 2A
p.Leu3811fs Multiple submitters retinitis pigmentosa 39
p.Leu4404fs Multiple submitters Usher syndrome type 2A
p.Leu4944fs Multiple submitters retinitis pigmentosa 39
p.Leu4957fs Multiple submitters USH2A-related disorder
p.Leu5089fs Multiple submitters Usher syndrome type 2A
p.Leu5124fs Multiple submitters retinitis pigmentosa 39
p.Lys2545Ter Multiple submitters retinitis pigmentosa 39
p.Lys2695Ter Multiple submitters Usher syndrome type 2A
p.Lys3509Ter Multiple submitters USH2A-related disorder
p.Lys4465Ter Multiple submitters USH2A-related disorder
p.Lys4600_Pro4601insSerTyrThrTerLys Multiple submitters retinitis pigmentosa 39
p.Lys4989Ter Multiple submitters Usher syndrome type 2A
p.Lys716Ter Multiple submitters USH2A-related disorder
p.Lys757Ter Multiple submitters retinitis pigmentosa 39
p.Met1280_Arg1281delinsIleTer Multiple submitters retinitis pigmentosa 39
p.Met4447Leu Multiple submitters USH2A-related disorder ⚠
p.Phe129fs Multiple submitters Usher syndrome type 2A
p.Phe1868Cys Multiple submitters Usher syndrome
p.Phe1868fs Multiple submitters Usher syndrome type 2A
p.Phe225fs Multiple submitters Usher syndrome type 2A
p.Phe4925fs Multiple submitters Usher syndrome type 2A

Likely pathogenic 732

Showing the top 300 by review status; the full set is in the sitemap.

c.12295-?_14133+?del Expert panel Usher syndrome
c.5857+2T>C Expert panel Usher syndrome
p.Arg4192Cys Expert panel Usher syndrome ⚠
p.Asn4292Asp Expert panel inherited retinal dystrophy ⚠
p.Cys694Tyr Expert panel Usher syndrome
p.His4603Pro Expert panel Usher syndrome
p.Ile1183fs Expert panel Usher syndrome
p.Val1839Glu Expert panel Usher syndrome
c.10387+1G>A Multiple submitters USH2A-related disorder
c.10940-2_10940delinsTATGGCTTT Multiple submitters Usher syndrome type 2A
c.11231+1G>T Multiple submitters Rare genetic deafness
c.11712-2A>C Multiple submitters Usher syndrome
c.11712-2A>G Multiple submitters USH2A-related disorder
c.14968+1G>C Multiple submitters retinitis pigmentosa 39
c.14968+2T>G Multiple submitters retinitis pigmentosa 39
c.15297+1G>T Multiple submitters retinitis pigmentosa 39
c.15298-2A>C Multiple submitters retinitis pigmentosa 39
c.1551-1G>A Multiple submitters USH2A-related disorder
c.1971+1G>T Multiple submitters retinitis pigmentosa 39
c.2810-1G>A Multiple submitters retinitis pigmentosa
c.3158-6A>G Multiple submitters Rare genetic deafness
c.3811+1G>T Multiple submitters USH2A-related disorder
c.4252-1G>A Multiple submitters retinitis pigmentosa 39
c.486-4_486-2del Multiple submitters retinitis pigmentosa 39
c.4885+1G>A Multiple submitters retinitis pigmentosa 39
c.4886-1G>A Multiple submitters Usher syndrome type 2A
c.4987+1G>A Multiple submitters Usher syndrome type 2A
c.5298+1G>T Multiple submitters USH2A-related disorder
c.6163+1G>A Multiple submitters retinitis pigmentosa 39
c.6326-2A>G Multiple submitters Usher syndrome type 2A
c.652-2A>G Multiple submitters USH2A-related disorder
c.6957+1G>C Multiple submitters retinitis pigmentosa 39
c.7120+1G>A Multiple submitters retinitis pigmentosa 39
c.7121-1G>T Multiple submitters retinitis pigmentosa 39
c.7300+1G>C Multiple submitters Usher syndrome
c.7451+1G>A Multiple submitters retinitis pigmentosa 39
c.7594+2del Multiple submitters retinitis pigmentosa 39
c.7595-1G>A Multiple submitters Usher syndrome type 2A
c.7595-1G>T Multiple submitters Usher syndrome type 2A
c.7595-2A>G Multiple submitters retinitis pigmentosa 39
c.785-1G>A Multiple submitters Usher syndrome type 2A
c.848+1G>T Multiple submitters retinitis pigmentosa 39
c.849-2A>G Multiple submitters USH2A-related disorder
c.8845+1G>A Multiple submitters retinitis pigmentosa 39
c.8846-1G>T Multiple submitters USH2A-related disorder
c.9055+1G>A Multiple submitters retinitis pigmentosa 39
c.9739+1G>C Multiple submitters USH2A-related disorder
c.9740-1G>A Multiple submitters USH2A-related disorder
p.Ala1717fs Multiple submitters retinitis pigmentosa 39
p.Ala4511Thr Multiple submitters retinitis pigmentosa 39 ⚠
p.Arg2894Met Multiple submitters USH2A-related disorder
p.Arg4570fs Multiple submitters retinitis pigmentosa 39
p.Asn346Asp Multiple submitters USH2A-related disorder
p.Asn4762Lys Multiple submitters Usher syndrome ⚠
p.Cys2089Ter Multiple submitters retinitis pigmentosa 39
p.Cys3267Trp Multiple submitters Usher syndrome
p.Cys3945fs Multiple submitters retinitis pigmentosa 39
p.Cys536Trp Multiple submitters USH2A-related disorder
p.Cys617fs Multiple submitters retinitis pigmentosa 39
p.Cys747Ter Multiple submitters USH2A-related disorder
p.Gln1409Ter Multiple submitters USH2A-related disorder
p.Gln2951Ter Multiple submitters USH2A-related disorder
p.Gln4928Ter Multiple submitters Usher syndrome type 2A
p.Glu4671fs Multiple submitters Usher syndrome
p.Gly3756Ser Multiple submitters USH2A-related disorder ⚠
p.Gly3895Ter Multiple submitters Usher syndrome type 2A
p.Gly4201fs Multiple submitters Usher syndrome type 2A
p.Gly4857Val Multiple submitters inherited retinal dystrophy
p.Gly59Glu Multiple submitters inherited retinal dystrophy
p.Gly603Arg Multiple submitters Usher syndrome type 2A
p.Ile4386Phe Multiple submitters Usher syndrome type 2A ⚠
p.Ile514Thr Multiple submitters retinitis pigmentosa 39
p.Leu1673Pro Multiple submitters retinitis pigmentosa 39
p.Leu1754fs Multiple submitters USH2A-related disorder
p.Phe470fs Multiple submitters USH2A-related disorder
p.Ser1136Gly Multiple submitters Usher syndrome type 2A ⚠
p.Ser391Arg Multiple submitters retinitis pigmentosa 39
p.Ser4593fs Multiple submitters Usher syndrome type 2A
p.Trp3130Arg Multiple submitters Usher syndrome
p.Tyr2277Ter Multiple submitters Usher syndrome type 2A
p.Tyr463fs Multiple submitters Usher syndrome type 2A
p.Val1833Glu Multiple submitters Usher syndrome type 2A
c.10182+1G>A Single submitter USH2A-related disorder
c.10182+2T>G Single submitter retinitis pigmentosa 39
c.10387+2T>C Single submitter USH2A-related disorder
c.10585+2T>A Single submitter retinitis pigmentosa 39
c.10586-1_10595delinsTTTACTACTATTA Single submitter Usher syndrome type 2A
c.10586-1G>A Single submitter retinitis pigmentosa 39
c.10741-2A>G Single submitter Usher syndrome type 2A
c.10939+1G>T Single submitter inherited retinal dystrophy
c.10940-2_10940-1insT Single submitter USH2A-related disorder
c.10940-3dup Single submitter USH2A-related disorder
c.11047+2T>C Single submitter retinitis pigmentosa 39
c.11231+1G>C Single submitter
c.11232-1G>A Single submitter
c.11232-1G>C Single submitter
c.1134_1143+1del Single submitter retinitis pigmentosa 39
c.11389+2del Single submitter
c.11389+3A>G Single submitter Usher syndrome
c.11390-2A>G Single submitter USH2A-related disorder
c.1143+1del Single submitter Usher syndrome type 2A
c.11549-4_11549del Single submitter
c.12066+1G>A Single submitter
c.12066+1G>C Single submitter retinitis pigmentosa 39
c.12066+1G>T Single submitter USH2A-related disorder
c.12067-10_12067dup Single submitter retinitis pigmentosa 39
c.12294+1G>A Single submitter USH2A-related disorder
c.14133+2T>C Single submitter Usher syndrome type 2A
c.14133+5G>T Single submitter USH2A-related disorder
c.14134-2A>T Single submitter Usher syndrome type 2A
c.14792-1G>T Single submitter retinitis pigmentosa 39
c.14968+1G>A Single submitter USH2A-related disorder
c.14969-1G>T Single submitter retinitis pigmentosa 39
c.14969-2A>G Single submitter Usher syndrome
c.14969-49_15001delinsAA Single submitter retinitis pigmentosa 39
c.15053-1G>A Single submitter
c.15053-5_15059del Single submitter retinitis pigmentosa 39
c.15297+1G>A Single submitter
c.15297+2T>C Single submitter
c.1550+2T>C Single submitter USH2A-related disorder
c.1551-2A>G Single submitter
c.1644+10004_1972-12164del Single submitter Usher syndrome
c.1644+2T>A Single submitter USH2A-related disorder
c.1841-1G>T Single submitter retinitis pigmentosa 39
c.2167+1G>A Single submitter
c.2167+5G>T Single submitter
c.2168-1G>T Single submitter Usher syndrome type 2A
c.2993+2T>A Single submitter Usher syndrome type 2A
c.2994-1G>C Single submitter retinitis pigmentosa 39
c.3157+1G>A Single submitter
c.3158-1G>A Single submitter
c.3158-1G>T Single submitter Usher syndrome type 2A
c.3316+2T>A Single submitter
c.3811+1G>A Single submitter retinitis pigmentosa 39
c.3811+2T>A Single submitter retinitis pigmentosa 39
c.4081+1_4081+9del Single submitter
c.4081+1G>A Single submitter
c.4396+1G>A Single submitter retinitis pigmentosa 39
c.4397-1del Single submitter
c.485_485+2del Single submitter
c.486-1_625del Single submitter
c.486-2A>C Single submitter Usher syndrome type 2A
c.4988-1G>C Single submitter retinitis pigmentosa 39
c.5167+1G>A Single submitter
c.5167+1G>C Single submitter
c.5167+2T>C Single submitter Usher syndrome type 2A
c.5168-1G>A Single submitter Usher syndrome type 2A
c.5168-2A>G Single submitter USH2A-related disorder
c.5572+1G>C Single submitter retinitis pigmentosa 39
c.5572+1G>T Single submitter retinitis pigmentosa 39
c.6049+1G>A Single submitter USH2A-related disorder
c.6325+2T>G Single submitter retinitis pigmentosa 39
c.6326-1G>A Single submitter inherited retinal dystrophy
c.6326-3_6332del Single submitter Usher syndrome type 2A
c.6485+5del Single submitter
c.6486-1G>A Single submitter retinitis pigmentosa 39
c.6486-2A>G Single submitter
c.652-1G>A Single submitter retinitis pigmentosa 39
c.6657+1G>T Single submitter retinitis pigmentosa 39
c.6806-1G>T Single submitter Usher syndrome type 2A
c.6806-2A>G Single submitter
c.6958delG Single submitter Usher syndrome type 2A
c.7120+1G>C Single submitter USH2A-related disorder
c.7300+1G>A Single submitter Usher syndrome type 2A
c.7451+1G>T Single submitter
c.7451+2T>A Single submitter
c.7452-1G>C Single submitter USH2A-related disorder
c.7452-1G>T Single submitter USH2A-related disorder
c.7595-3_7596delinsGAGAG Single submitter
c.781_784+1375del Single submitter
c.784+2T>C Single submitter
c.785-2A>C Single submitter
c.785-3C>G Single submitter USH2A-related disorder
c.8223+2del Single submitter
c.8224-1_8227dup Single submitter USH2A-related disorder
c.848+2T>C Single submitter Usher syndrome type 2A
c.8559-1G>C Single submitter retinitis pigmentosa 39
c.8655_8681+1681del Single submitter
c.8682-1_8684del Single submitter USH2A-related disorder
c.8845+628C>T Single submitter Usher syndrome type 2A
c.8846-2A>G Single submitter Usher syndrome type 2A
c.8846-2A>T Single submitter
c.9055+1G>T Single submitter retinitis pigmentosa 39
c.9055+2T>A Single submitter retinitis pigmentosa 39
c.9258+2T>A Single submitter USH2A-related disorder
c.9258+2T>C Single submitter retinitis pigmentosa 39
c.9259-2A>G Single submitter USH2A-related disorder
c.9335_9371+8063del Single submitter Rare genetic deafness
c.9372-1G>T Single submitter USH2A-related disorder
c.9372-2A>G Single submitter Usher syndrome type 2A
c.9739+1G>T Single submitter Usher syndrome type 2A
c.9739+2T>C Single submitter Usher syndrome type 2A
c.9740-2A>G Single submitter
c.9958+1G>C Single submitter
c.9958+2T>C Single submitter
c.9959-1G>A Single submitter USH2A-related disorder
c.9959-2A>G Single submitter retinitis pigmentosa 39
c.9959del Single submitter retinitis pigmentosa 39
p.Ala1222fs Single submitter retinitis pigmentosa 39
p.Ala125fs Single submitter retinitis pigmentosa 39
p.Ala1361= Single submitter inherited retinal dystrophy
p.Ala2234_Leu2235insTer Single submitter USH2A-related disorder
p.Ala339fs Single submitter Usher syndrome type 2A
p.Ala3922fs Single submitter USH2A-related disorder
p.Ala4423Asp Single submitter USH2A-related disorder
p.Ala4778fs Single submitter Usher syndrome type 2A
p.Ala630fs Single submitter Usher syndrome
p.Ala73fs Single submitter USH2A-related disorder
p.Arg1777fs Single submitter Usher syndrome type 2A
p.Arg1870_Ala1872del Single submitter Usher syndrome type 2A
p.Arg1981Ter Single submitter Usher syndrome type 2A
p.Arg2853fs Single submitter retinitis pigmentosa 39
p.Arg3317fs Single submitter Usher syndrome type 2A
p.Arg334fs Single submitter retinitis pigmentosa 39
p.Arg3719fs Single submitter USH2A-related disorder
p.Arg4040fs Single submitter Usher syndrome type 2A
p.Arg4187Pro Single submitter ⚠
p.Arg4493fs Single submitter Usher syndrome type 2A
p.Arg4674Gly Single submitter retinitis pigmentosa 39
p.Arg4682fs Single submitter USH2A-related disorder
p.Arg4935fs Single submitter retinitis pigmentosa 39
p.Arg998Lys Single submitter Usher syndrome type 2A ⚠
p.Asn1129fs Single submitter Usher syndrome type 2A
p.Asn1758Ile Single submitter USH2A-related disorder
p.Asn1797fs Single submitter inherited retinal dystrophy
p.Asn1875fs Single submitter USH2A-related disorder
p.Asn2322fs Single submitter USH2A-related disorder
p.Asn2356Ser Single submitter retinitis pigmentosa ⚠
p.Asn2651fs Single submitter retinitis pigmentosa 39
p.Asn3067Lys Single submitter inherited retinal dystrophy ⚠
p.Asn3217fs Single submitter retinitis pigmentosa 39
p.Asn4071fs Single submitter Usher syndrome
p.Asn426fs Single submitter USH2A-related disorder
p.Asn427fs Single submitter retinitis pigmentosa 39
p.Asn472Ter Single submitter retinitis pigmentosa 39
p.Asn4913Lys Single submitter inherited retinal dystrophy
p.Asn5118fs Single submitter
p.Asp1112fs Single submitter retinitis pigmentosa 39
p.Asp1604Val Single submitter USH2A-related disorder
p.Asp1624Tyr Single submitter Usher syndrome type 2A
p.Asp1763Val Single submitter Usher syndrome
p.Asp1828fs Single submitter retinitis pigmentosa 39
p.Asp2202fs Single submitter Usher syndrome type 2A
p.Asp329_Asn330insTer Single submitter Usher syndrome type 2A
p.Asp3553Gly Single submitter USH2A-related disorder
p.Asp3930fs Single submitter retinitis pigmentosa 39
p.Asp411delinsGluGlyAsnLysAspSerLysGluGluGlyLysTer Single submitter USH2A-related disorder
p.Asp4320Asn Single submitter
p.Asp4968fs Single submitter USH2A-related disorder
p.Asp558fs Single submitter USH2A-related disorder
p.Asp607_His610delinsValGlyTer Single submitter Usher syndrome type 2A
p.Cys1002Ser Single submitter retinitis pigmentosa 39
p.Cys1035fs Single submitter USH2A-related disorder
p.Cys1447Ter Single submitter USH2A-related disorder
p.Cys163Arg Single submitter retinitis pigmentosa
p.Cys2035Gly Single submitter retinitis pigmentosa
p.Cys2040Tyr Single submitter USH2A-related disorder
p.Cys2128Ser Single submitter
p.Cys2796fs Single submitter retinitis pigmentosa 39
p.Cys3016Ter Single submitter
p.Cys304fs Single submitter USH2A-related disorder
p.Cys319fs Single submitter Usher syndrome type 2A
p.Cys3222Ter Single submitter USH2A-related disorder
p.Cys3251Tyr Single submitter USH2A-related disorder
p.Cys3267Phe Single submitter
p.Cys3282Ter Single submitter retinitis pigmentosa 39
p.Cys3294Phe Single submitter
p.Cys3294Ser Single submitter
p.Cys3307Ser Single submitter retinitis pigmentosa 39
p.Cys3444Gly Single submitter USH2A-related disorder
p.Cys3570Phe Single submitter
p.Cys3575Phe Single submitter Usher syndrome type 2A
p.Cys3575Ser Single submitter Usher syndrome type 2A
p.Cys3847Gly Single submitter USH2A-related disorder
p.Cys419Arg Single submitter
p.Cys4424Arg Single submitter Usher syndrome type 2A
p.Cys4429_Thr4430insTer Single submitter retinitis pigmentosa 39
p.Cys4429Tyr Single submitter USH2A-related disorder
p.Cys4612fs Single submitter inherited retinal dystrophy
p.Cys4813Ter Single submitter Usher syndrome type 2A
p.Cys4814fs Single submitter USH2A-related disorder
p.Cys4997Tyr Single submitter Usher syndrome
p.Cys577Tyr Single submitter
p.Cys584Ser Single submitter
p.Cys584Tyr Single submitter
p.Cys608Tyr Single submitter retinitis pigmentosa 39
p.Cys664Phe Single submitter
p.Cys67Arg Single submitter inherited retinal dystrophy
p.Cys67Gly Single submitter Usher syndrome type 2A
p.Cys691Ser Single submitter
p.Cys691Tyr Single submitter inherited retinal dystrophy
p.Cys766Ser Single submitter
p.Cys84Tyr Single submitter
p.Cys88Ser Single submitter
p.Cys972Phe Single submitter
p.Gln1020Ter Single submitter Usher syndrome type 2A
p.Gln1175Ter Single submitter retinitis pigmentosa 39
p.Gln1240fs Single submitter inherited retinal dystrophy
p.Gln1240Ter Single submitter USH2A-related disorder
p.Gln1298fs Single submitter Usher syndrome type 2A

Conflicting classifications of pathogenicity 515

Showing the top 300 by review status; the full set is in the sitemap.

c.10388-17_10388-7del Single submitter
c.10741-9C>T Single submitter
c.10940-5T>G Single submitter
c.11389+2dup Single submitter USH2A-related disorder
c.11390-2del Single submitter Usher syndrome type 2A
c.11712-8C>A Single submitter
c.12066+4409C>G Single submitter
c.14134-9T>C Single submitter Usher syndrome type 2A
c.14792-10C>T Single submitter
c.15052+8A>G Single submitter
c.15297+17G>A Single submitter
c.15298-18_15301dup Single submitter Usher syndrome type 2A
c.1551-27A>G Single submitter retinitis pigmentosa 39
c.1551-9T>A Single submitter retinitis pigmentosa 39
c.15520-10T>C Single submitter
c.15520-1G>A Single submitter Usher syndrome type 2A
c.1644+5G>C Single submitter USH2A-related disorder
c.1645-8del Single submitter Usher syndrome type 2A
c.1972-4C>T Single submitter retinitis pigmentosa
c.2167+11C>T Single submitter retinitis pigmentosa
c.2167+15A>G Single submitter retinitis pigmentosa 39
c.2167+4C>T Single submitter retinitis pigmentosa 39
c.2168-6C>T Single submitter
c.2994-10T>G Single submitter Usher syndrome type 2A
c.3157+12C>T Single submitter retinitis pigmentosa
c.3812-3_3837dup Single submitter Usher syndrome type 2A
c.4251+12T>G Single submitter
c.4252-7C>A Single submitter
c.4627+10T>C Single submitter Usher syndrome type 2A
c.4627+28A>G Single submitter retinitis pigmentosa
c.4627+48A>T Single submitter retinitis pigmentosa
c.4627+641G>A Single submitter retinitis pigmentosa
c.485+12T>C Single submitter retinitis pigmentosa
c.486-13G>A Single submitter retinitis pigmentosa
c.486-15C>T Single submitter retinitis pigmentosa
c.4886-33_4894dup Single submitter
c.4988-2A>G Single submitter Usher syndrome type 2A
c.5298+5G>A Single submitter Usher syndrome type 2A
c.5299-10T>C Single submitter Usher syndrome type 2A
c.652-9T>G Single submitter
c.6805+16T>C Single submitter
c.6806-2A>C Single submitter inherited retinal dystrophy
c.6958-10A>G Single submitter
c.6958-3C>T Single submitter
c.6958-8A>T Single submitter retinitis pigmentosa 39
c.7301-6C>T Single submitter Usher syndrome type 2A
c.7451+3G>A Single submitter Usher syndrome type 2A
c.784+14389G>T Single submitter Usher syndrome type 2
c.849-4A>G Single submitter retinitis pigmentosa
c.8559-7G>A Single submitter Usher syndrome type 2A
c.8846-4A>G Single submitter
c.8846-7T>C Single submitter
c.9056-17T>A Single submitter
c.9056-4C>T Single submitter
c.9258+3T>C Single submitter
c.9958+6G>A Single submitter
c.9958+8G>T Single submitter
c.9959-20A>G Single submitter
p.Ala1009Asp Single submitter inherited retinal dystrophy ⚠
p.Ala1009Val Single submitter Inborn genetic diseases ⚠
p.Ala1214Thr Single submitter Inborn genetic diseases ⚠
p.Ala1222= Single submitter Usher syndrome type 2A
p.Ala1222Thr Single submitter retinitis pigmentosa 39
p.Ala1222Val Single submitter
p.Ala1267Val Single submitter Inborn genetic diseases ⚠
p.Ala1511Val Single submitter Inborn genetic diseases ⚠
p.Ala1711Thr Single submitter ⚠
p.Ala1953Gly Single submitter inherited retinal dystrophy ⚠
p.Ala2122Ser Single submitter Inborn genetic diseases
p.Ala2713Ser Single submitter ⚠
p.Ala3013Thr Single submitter Inborn genetic diseases ⚠
p.Ala3230Thr Single submitter Inborn genetic diseases ⚠
p.Ala3489Thr Single submitter inherited retinal dystrophy ⚠
p.Ala3492Thr Single submitter ⚠
p.Ala3866Val Single submitter Usher syndrome type 2A ⚠
p.Ala4144= Single submitter inherited retinal dystrophy
p.Ala4153Thr Single submitter USH2A-related disorder
p.Ala4366Val Single submitter ⚠
p.Ala4400Ser Single submitter ⚠
p.Ala4618= Single submitter inherited retinal dystrophy
p.Ala5102= Single submitter Usher syndrome type 2A
p.Ala524Asp Single submitter retinitis pigmentosa 39 ⚠
p.Ala524Val Single submitter Usher syndrome
p.Ala945= Single submitter
p.Arg1438Lys Single submitter ⚠
p.Arg1471Thr Single submitter retinitis pigmentosa ⚠
p.Arg1549Gln Single submitter
p.Arg1653Gln Single submitter ⚠
p.Arg1777Gln Single submitter retinitis pigmentosa 39 ⚠
p.Arg1870Trp Single submitter inherited retinal dystrophy
p.Arg1964His Single submitter Inborn genetic diseases ⚠
p.Arg2354Cys Single submitter Usher syndrome type 2A ⚠
p.Arg2509= Single submitter
p.Arg2573His Single submitter ⚠
p.Arg2573Pro Single submitter ⚠
p.Arg274Gln Single submitter retinitis pigmentosa 39
p.Arg283Gly Single submitter Usher syndrome type 2A
p.Arg2859Cys Single submitter ⚠
p.Arg2859His Single submitter
p.Arg2859Pro Single submitter Usher syndrome
p.Arg3037His Single submitter Usher syndrome type 2A ⚠
p.Arg303Cys Single submitter retinitis pigmentosa 39
p.Arg3134Gln Single submitter ⚠
p.Arg3205His Single submitter Usher syndrome type 2A ⚠
p.Arg334Gly Single submitter USH2A-related disorder
p.Arg3475Gly Single submitter Inborn genetic diseases
p.Arg3522Gly Single submitter inherited retinal dystrophy ⚠
p.Arg3626Ser Single submitter Usher syndrome type 2A ⚠
p.Arg3641Lys Single submitter Usher syndrome type 2A ⚠
p.Arg3719Cys Single submitter Usher syndrome type 2A
p.Arg3719Leu Single submitter USH2A-related disorder
p.Arg3905His Single submitter USH2A-related disorder
p.Arg3941Gln Single submitter Usher syndrome type 2A ⚠
p.Arg3999His Single submitter Inborn genetic diseases ⚠
p.Arg4081Gln Single submitter Inborn genetic diseases ⚠
p.Arg4081Trp Single submitter Usher syndrome type 2A
p.Arg4092Lys Single submitter Usher syndrome type 2A ⚠
p.Arg4115Cys Single submitter Usher syndrome type 2A ⚠
p.Arg4115His Single submitter retinitis pigmentosa 39 ⚠
p.Arg4121His Single submitter USH2A-related disorder ⚠
p.Arg4187His Single submitter USH2A-related disorder ⚠
p.Arg4495Cys Single submitter retinitis pigmentosa 39 ⚠
p.Arg4495His Single submitter retinitis pigmentosa 39 ⚠
p.Arg449His Single submitter inherited retinal dystrophy ⚠
p.Arg4526Gln Single submitter ⚠
p.Arg4570His Single submitter inherited retinal dystrophy ⚠
p.Arg4935Gln Single submitter ⚠
p.Arg4971Gln Single submitter Inborn genetic diseases ⚠
p.Arg5119Trp Single submitter inherited retinal dystrophy ⚠
p.Arg5125His Single submitter Inborn genetic diseases ⚠
p.Arg517Thr Single submitter Usher syndrome
p.Arg5194= Single submitter Usher syndrome type 2A
p.Arg5194His Single submitter Inborn genetic diseases ⚠
p.Asn1343His Single submitter Usher syndrome
p.Asn1448Ser Single submitter Inborn genetic diseases
p.Asn1494Ile Single submitter Usher syndrome type 2A
p.Asn1683Ser Single submitter Usher syndrome type 2A ⚠
p.Asn1875Ser Single submitter Usher syndrome type 2A ⚠
p.Asn2334Asp Single submitter retinitis pigmentosa 39 ⚠
p.Asn2356Lys Single submitter Usher syndrome type 2A
p.Asn2514Ser Single submitter Usher syndrome type 2A
p.Asn3257Ser Single submitter inherited retinal dystrophy ⚠
p.Asn3302= Single submitter retinitis pigmentosa 39
p.Asn3330Ile Single submitter Inborn genetic diseases
p.Asn3372Lys Single submitter Inborn genetic diseases ⚠
p.Asn346Ser Single submitter
p.Asn3742Ser Single submitter ⚠
p.Asn405Asp Single submitter Inborn genetic diseases ⚠
p.Asn4101del Single submitter retinitis pigmentosa 39
p.Asn4101Ile Single submitter ⚠
p.Asn42= Single submitter retinitis pigmentosa
p.Asn4691= Single submitter Usher syndrome type 2A
p.Asn587del Single submitter retinitis pigmentosa 39
p.Asn960= Single submitter
p.Asp1101Tyr Single submitter USH2A-related disorder
p.Asp1114= Single submitter retinitis pigmentosa
p.Asp1163= Single submitter retinitis pigmentosa
p.Asp1584Glu Single submitter USH2A-related disorder
p.Asp1624Val Single submitter inherited retinal dystrophy ⚠
p.Asp1865Val Single submitter inherited retinal dystrophy
p.Asp2237Glu Single submitter ⚠
p.Asp2279His Single submitter inherited retinal dystrophy
p.Asp2477Asn Single submitter ⚠
p.Asp2952= Single submitter
p.Asp347His Single submitter Usher syndrome type 2A ⚠
p.Asp4320His Single submitter USH2A-related disorder
p.Asp4448Gly Single submitter Inborn genetic diseases ⚠
p.Asp4968Asn Single submitter Usher syndrome type 2A ⚠
p.Asp4978= Single submitter inherited retinal dystrophy
p.Asp510= Single submitter retinitis pigmentosa
p.Asp631= Single submitter
p.Asp631Asn Single submitter ⚠
p.Cys1004= Single submitter
p.Cys1900Gly Single submitter Usher syndrome type 2A
p.Cys2040Gly Single submitter retinitis pigmentosa 39
p.Cys2128Tyr Single submitter Usher syndrome type 2A
p.Cys2309Arg Single submitter retinitis pigmentosa 39 ⚠
p.Cys2309Gly Single submitter USH2A-related disorder
p.Cys3016Tyr Single submitter Usher syndrome type 2A ⚠
p.Cys3281Phe Single submitter retinitis pigmentosa 39
p.Cys3294Trp Single submitter retinitis pigmentosa 39
p.Cys3306Tyr Single submitter USH2A-related disorder
p.Cys3307Tyr Single submitter USH2A-related disorder
p.Cys3337Phe Single submitter USH2A-related disorder
p.Cys4336Arg Single submitter Inborn genetic diseases
p.Cys4375Arg Single submitter USH2A-related disorder ⚠
p.Cys4808Tyr Single submitter Usher syndrome
p.Cys5122Arg Single submitter inherited retinal dystrophy ⚠
p.Cys520Arg Single submitter inherited retinal dystrophy ⚠
p.Cys536= Single submitter inherited retinal dystrophy
p.Cys552Ser Single submitter ⚠
p.Cys577Arg Single submitter USH2A-related disorder ⚠
p.Cys605Arg Single submitter retinitis pigmentosa ⚠
p.Cys608Arg Single submitter ⚠
p.Cys638fs Single submitter inherited retinal dystrophy
p.Cys662Ser Single submitter Usher syndrome type 2A ⚠
p.Cys696Phe Single submitter USH2A-related disorder ⚠
p.Cys729Tyr Single submitter ⚠
p.Cys744Tyr Single submitter USH2A-related disorder ⚠
p.Cys768Arg Single submitter Usher syndrome ⚠
p.Cys88Trp Single submitter USH2A-related disorder
p.Cys985Arg Single submitter Usher syndrome ⚠
p.Gln1461= Single submitter
p.Gln2162= Single submitter Usher syndrome type 2A
p.Gln2206= Single submitter
p.Gln2472Pro Single submitter retinitis pigmentosa 39
p.Gln2615Arg Single submitter Usher syndrome type 2A ⚠
p.Gln393= Single submitter retinitis pigmentosa
p.Gln4541Pro Single submitter Inborn genetic diseases ⚠
p.Gln4676Arg Single submitter Delayed speech and language development ⚠
p.Gln4790Pro Single submitter USH2A-related disorder
p.Gln5010Leu Single submitter Inborn genetic diseases ⚠
p.Gln684= Single submitter inherited retinal dystrophy
p.Glu1199del Single submitter inherited retinal dystrophy
p.Glu1262= Single submitter
p.Glu1314Gly Single submitter Inborn genetic diseases ⚠
p.Glu166Gly Single submitter retinitis pigmentosa 39
p.Glu1994Lys Single submitter Inborn genetic diseases ⚠
p.Glu2330Gly Single submitter Inborn genetic diseases ⚠
p.Glu2613Asp Single submitter inherited retinal dystrophy ⚠
p.Glu264= Single submitter
p.Glu2716Lys Single submitter Usher syndrome type 2A ⚠
p.Glu284Gly Single submitter Usher syndrome ⚠
p.Glu2926= Single submitter
p.Glu3398Asp Single submitter Inborn genetic diseases ⚠
p.Glu3496Ala Single submitter Inborn genetic diseases ⚠
p.Glu3496del Single submitter Usher syndrome type 2A
p.Glu3670Lys Single submitter ⚠
p.Glu3730Gly Single submitter Usher syndrome type 2A ⚠
p.Glu3912Lys Single submitter Inborn genetic diseases ⚠
p.Glu3939Lys Single submitter inherited retinal dystrophy ⚠
p.Glu4209Lys Single submitter Inborn genetic diseases ⚠
p.Glu4237= Single submitter inherited retinal dystrophy
p.Glu4629Lys Single submitter USH2A-related disorder
p.Glu4701Lys Single submitter retinitis pigmentosa 39 ⚠
p.Glu4784Lys Single submitter USH2A-related disorder ⚠
p.Glu478Asp Single submitter retinitis pigmentosa ⚠
p.Glu4914Lys Single submitter ⚠
p.Glu511Lys Single submitter Usher syndrome
p.Gly1132Asp Single submitter retinitis pigmentosa
p.Gly1271Glu Single submitter USH2A-related disorder ⚠
p.Gly1460Arg Single submitter retinitis pigmentosa 39
p.Gly1526= Single submitter Usher syndrome type 2A
p.Gly1599Asp Single submitter Usher syndrome type 2A ⚠
p.Gly160Ser Single submitter retinitis pigmentosa ⚠
p.Gly1649Glu Single submitter retinitis pigmentosa ⚠
p.Gly1650Ala Single submitter retinitis pigmentosa ⚠
p.Gly1840Glu Single submitter ⚠
p.Gly1871Asp Single submitter Childhood onset hearing loss ⚠
p.Gly1882Ser Single submitter Inborn genetic diseases ⚠
p.Gly1968= Single submitter
p.Gly2224Cys Single submitter USH2A-related disorder
p.Gly2243= Single submitter inherited retinal dystrophy
p.Gly2269Arg Single submitter
p.Gly2295Arg Single submitter inherited retinal dystrophy
p.Gly2313Arg Single submitter
p.Gly2390Arg Single submitter Inborn genetic diseases ⚠
p.Gly2437= Single submitter
p.Gly2799Arg Single submitter USH2A-related disorder
p.Gly2799Cys Single submitter retinitis pigmentosa
p.Gly2849Val Single submitter
p.Gly3138Ala Single submitter USH2A-related disorder
p.Gly3291Ser Single submitter inherited retinal dystrophy
p.Gly3756Asp Single submitter
p.Gly378= Single submitter
p.Gly3895Arg Single submitter
p.Gly3949Val Single submitter Inborn genetic diseases
p.Gly4032Arg Single submitter USH2A-related disorder
p.Gly4032Val Single submitter inherited retinal dystrophy
p.Gly4139Ser Single submitter
p.Gly420Ser Single submitter Inborn genetic diseases ⚠
p.Gly4247Arg Single submitter Rare genetic deafness
p.Gly4427Arg Single submitter retinitis pigmentosa 39
p.Gly4428Val Single submitter retinitis pigmentosa
p.Gly4516Trp Single submitter Usher syndrome type 2A ⚠
p.Gly4692Arg Single submitter Usher syndrome type 2A
p.Gly4731Arg Single submitter Inborn genetic diseases
p.Gly4759Arg Single submitter Inborn genetic diseases ⚠
p.Gly4838Arg Single submitter Usher syndrome type 2A ⚠
p.Gly4857Ala Single submitter Usher syndrome
p.Gly4976Ser Single submitter retinitis pigmentosa 39
p.Gly600Ala Single submitter ⚠
p.Gly614Arg Single submitter USH2A-related disorder ⚠
p.Gly660Glu Single submitter ⚠
p.Gly937Val Single submitter Usher syndrome type 2A
p.His1015Gln Single submitter USH2A-related disorder ⚠
p.His1015Tyr Single submitter Usher syndrome type 2A ⚠
p.His1041Gln Single submitter retinitis pigmentosa
p.His1260= Single submitter retinitis pigmentosa
p.His1608Gln Single submitter
p.His2045Arg Single submitter Usher syndrome type 2A ⚠
p.His2346= Single submitter Usher syndrome type 2A
p.His2346Arg Single submitter Usher syndrome type 2A ⚠
p.His2982Leu Single submitter Inborn genetic diseases ⚠
p.His3204Arg Single submitter inherited retinal dystrophy ⚠
p.His4867Leu Single submitter Usher syndrome type 2A ⚠
p.His521Arg Single submitter inherited retinal dystrophy ⚠
p.His610Pro Single submitter Usher syndrome type 2A
p.His667= Single submitter retinitis pigmentosa
p.Ile1107Ser Single submitter retinitis pigmentosa 39 ⚠

Benign 264

c.15297+3A>G Expert panel Usher syndrome
p.Gly1301Val Expert panel Usher syndrome
p.Ser2445Phe Expert panel Usher syndrome
p.Ser5188Gly Expert panel Usher syndrome
p.Val5145Ile Expert panel Usher syndrome
c.10182+27C>T Multiple submitters
c.10183-260A>C Multiple submitters
c.10388-27T>C Multiple submitters Usher syndrome type 2A
c.10585+143A>C Multiple submitters Usher syndrome type 2A
c.10939+182G>A Multiple submitters
c.11389+14del Multiple submitters retinitis pigmentosa 39
c.11389+9A>T Multiple submitters Usher syndrome type 2A
c.11390-53C>T Multiple submitters Usher syndrome type 2A
c.11390-55C>T Multiple submitters Usher syndrome type 2A
c.11390-69C>T Multiple submitters
c.11390-77C>G Multiple submitters
c.11390-79C>T Multiple submitters
c.11390-81C>T Multiple submitters
c.11390-83T>C Multiple submitters
c.11548+98G>A Multiple submitters
c.11549-5del Multiple submitters Usher syndrome type 2A
c.11549-5dup Multiple submitters retinitis pigmentosa 39
c.12067-117T>C Multiple submitters
c.12067-31del Multiple submitters Usher syndrome type 2A
c.12294+134C>T Multiple submitters
c.12295-86G>C Multiple submitters
c.1328+37_1328+40del Multiple submitters retinitis pigmentosa 39
c.13811+72G>A Multiple submitters
c.14968+56C>T Multiple submitters
c.14968+80C>G Multiple submitters
c.15297+57T>C Multiple submitters
c.1551-82T>C Multiple submitters
c.15519+23G>A Multiple submitters
c.3157+35G>A Multiple submitters Usher syndrome type 2A
c.3317-25dup Multiple submitters retinitis pigmentosa 39
c.3812-8T>G Multiple submitters retinitis pigmentosa
c.4082-44G>A Multiple submitters Usher syndrome type 2A
c.4082-66A>C Multiple submitters Usher syndrome type 2A
c.4627+1038T>C Multiple submitters retinitis pigmentosa
c.4627+1142G>T Multiple submitters retinitis pigmentosa
c.4627+145T>G Multiple submitters retinitis pigmentosa
c.4627+32G>T Multiple submitters retinitis pigmentosa
c.4627+699C>A Multiple submitters retinitis pigmentosa
c.4628-136A>G Multiple submitters
c.4628-63C>T Multiple submitters Usher syndrome type 2A
c.486-147A>G Multiple submitters
c.5298+82C>A Multiple submitters
c.5573-34del Multiple submitters retinitis pigmentosa 39
c.5857+17A>C Multiple submitters Usher syndrome type 2A
c.5857+187C>T Multiple submitters
c.6049+37C>T Multiple submitters
c.6163+155G>A Multiple submitters
c.652-80T>C Multiple submitters Usher syndrome type 2A
c.6657+123G>A Multiple submitters
c.6657+200G>T Multiple submitters
c.6657+29C>A Multiple submitters
c.6957+19A>G Multiple submitters Usher syndrome type 2A
c.7300+43C>T Multiple submitters Usher syndrome type 2A
c.7301-65C>T Multiple submitters Usher syndrome type 2A
c.7594+128C>A Multiple submitters
c.7594+143G>A Multiple submitters
c.7594+22C>T Multiple submitters
c.8224-109T>C Multiple submitters
c.848+103C>G Multiple submitters Usher syndrome type 2A
c.8558+40C>A Multiple submitters Usher syndrome type 2A
c.8559-65T>C Multiple submitters Usher syndrome type 2A
c.8681+120G>A Multiple submitters Usher syndrome type 2A
c.8681+18A>G Multiple submitters Usher syndrome type 2A
c.8682-53A>G Multiple submitters Usher syndrome type 2A
c.9259-347C>A Multiple submitters
c.9371+245C>T Multiple submitters
c.9739+88C>T Multiple submitters
c.9958+128A>G Multiple submitters
c.9958+69C>T Multiple submitters
c.9959-11T>G Multiple submitters retinitis pigmentosa 39
c.*243G>T Multiple submitters
c.*49A>C Multiple submitters
p.Ala125Thr Multiple submitters inherited retinal dystrophy
p.Ala4778Asp Multiple submitters retinitis pigmentosa 39
p.Ala4827= Multiple submitters inherited retinal dystrophy
p.Arg1486= Multiple submitters
p.Arg1486Lys Multiple submitters inherited retinal dystrophy
p.Arg2292His Multiple submitters inherited retinal dystrophy
p.Arg2875Gln Multiple submitters inherited retinal dystrophy
p.Arg5143His Multiple submitters Usher syndrome type 2A
p.Asn3099Ser Multiple submitters Usher syndrome type 2A
p.Asp3144Asn Multiple submitters Usher syndrome type 2A
p.Cys2123= Multiple submitters retinitis pigmentosa 39
p.Gln4203Arg Multiple submitters inherited retinal dystrophy
p.Gln4662Glu Multiple submitters retinitis pigmentosa 39
p.Glu3411Ala Multiple submitters inherited retinal dystrophy
p.Glu3912= Multiple submitters retinitis pigmentosa 39
p.Glu4397= Multiple submitters inherited retinal dystrophy
p.Gly1671= Multiple submitters inherited retinal dystrophy
p.Ile2106= Multiple submitters
p.Ile2106Thr Multiple submitters inherited retinal dystrophy
p.Ile2169Thr Multiple submitters inherited retinal dystrophy
p.Leu3982= Multiple submitters inherited retinal dystrophy
p.Pro2502= Multiple submitters inherited retinal dystrophy
p.Pro3969= Multiple submitters retinitis pigmentosa 39
p.Ser1457= Multiple submitters retinitis pigmentosa
p.Ser2196Thr Multiple submitters retinitis pigmentosa 39
p.Thr168= Multiple submitters inherited retinal dystrophy
p.Thr2528= Multiple submitters Usher syndrome type 2A
p.Thr4204= Multiple submitters
p.Thr4222= Multiple submitters inherited retinal dystrophy
p.Thr4742= Multiple submitters retinitis pigmentosa 39
p.Thr4888Ser Multiple submitters Usher syndrome type 2A
p.Trp4149Arg Multiple submitters Usher syndrome type 2A
p.Tyr5174= Multiple submitters retinitis pigmentosa 39
p.Val1839= Multiple submitters Usher syndrome type 2A
p.Val191= Multiple submitters inherited retinal dystrophy
p.Val3518Ile Multiple submitters retinitis pigmentosa 39
c.10388-11dup Single submitter
c.10585+211A>G Single submitter
c.10585+267A>G Single submitter
c.10586-196_10586-195dup Single submitter
c.10741-223G>A Single submitter
c.11048-275G>A Single submitter
c.11231+199G>A Single submitter
c.11231+259A>C Single submitter
c.11232-321C>G Single submitter
c.11389+12_11389+14del Single submitter
c.11389+13_11389+14dup Single submitter
c.11389+233A>G Single submitter
c.11389+308del Single submitter
c.11390-101_11390-95del Single submitter
c.11390-24CT[8] Single submitter Usher syndrome type 2A
c.11390-264A>G Single submitter
c.11390-52AT[11] Single submitter
c.11390-52AT[13] Single submitter
c.11390-52AT[9] Single submitter
c.11390-74_11390-73insATATATAT Single submitter
c.11390-82_11390-81insATAC Single submitter
c.11390-82_11390-81insATACAC Single submitter
c.11390-93TA[7] Single submitter
c.1143+173C>G Single submitter
c.1144-28A>C Single submitter
c.11548+283G>A Single submitter
c.11711+245G>T Single submitter
c.11712-104A>T Single submitter
c.11712-261C>A Single submitter
c.11712-325T>C Single submitter
c.12066+305del Single submitter
c.12067-182C>G Single submitter
c.12067-297T>G Single submitter
c.12295-128A>T Single submitter
c.14133+234C>G Single submitter
c.14134-53del Single submitter
c.14134-68dup Single submitter
c.14582+196C>T Single submitter
c.14583-359T>C Single submitter
c.14792-111del Single submitter
c.14792-128dup Single submitter
c.14792-67del Single submitter
c.14968+239C>T Single submitter
c.14969-261G>A Single submitter
c.15052+151G>T Single submitter
c.15052+171T>G Single submitter
c.1550+172TA[10] Single submitter
c.1550+172TA[11] Single submitter
c.1550+172TA[12] Single submitter
c.1550+172TA[9] Single submitter
c.1550+194del Single submitter
c.1550+196del Single submitter
c.1551-233A>C Single submitter
c.15520-194A>T Single submitter
c.15520-4dup Single submitter
c.1644+14dup Single submitter
c.1645-170G>A Single submitter
c.1645-257C>T Single submitter
c.1645-8dup Single submitter
c.1971+198A>G Single submitter
c.1971+85G>A Single submitter
c.2168-20del Single submitter
c.2168-282C>A Single submitter
c.2168-9dup Single submitter
c.2810-294G>T Single submitter
c.2993+146A>G Single submitter
c.2993+715_2993+716insATATATATATATTATATATATAAT Single submitter
c.2993+94dup Single submitter
c.3157+254G>A Single submitter
c.3158-284_3158-283del Single submitter
c.3317-12dup Single submitter
c.3317-14del Single submitter
c.4251+57del Single submitter
c.4397-327G>A Single submitter
c.4397-92A>G Single submitter
c.4627+10935T>C Single submitter
c.4627+2086T>G Single submitter
c.4627+367C>T Single submitter
c.4627+4029G>A Single submitter
c.4627+5605A>C Single submitter
c.4627+6877A>G Single submitter
c.4627+7319A>G Single submitter
c.4627+7818C>T Single submitter
c.4627+7985C>T Single submitter
c.4627+8039T>C Single submitter
c.4627+9599A>G Single submitter
c.4627+9916T>C Single submitter
c.4628-261G>A Single submitter
c.486-17del Single submitter
c.4885+267G>A Single submitter
c.4886-234C>T Single submitter
c.4987+200C>T Single submitter
c.4988-287T>A Single submitter
c.5298+188T>G Single submitter
c.5573-1003_5573-997del Single submitter
c.5573-1005_5573-1004insG Single submitter
c.5573-1050GA[11] Single submitter
c.5573-1050GA[12] Single submitter
c.5573-1050GA[14] Single submitter
c.5573-1050GA[9] Single submitter
c.5573-1052C>T Single submitter
c.5573-578C>A Single submitter
c.6325+114G>C Single submitter
c.6326-4del Single submitter
c.6486-185C>T Single submitter
c.652-24A>T Single submitter
c.6657+100del Single submitter
c.6657+202dup Single submitter
c.6658-273C>T Single submitter
c.6806-117_6806-116del Single submitter
c.6958-132G>A Single submitter
c.7120+13del Single submitter
c.7594+194G>A Single submitter
c.7595-110del Single submitter
c.7595-1906T>A Single submitter
c.7595-2420C>T Single submitter
c.7595-2445G>A Single submitter
c.7595-308A>C Single submitter
c.784+162del Single submitter
c.8223+203T>C Single submitter
c.849-247T>C Single submitter
c.8681+315A>G Single submitter
c.8681+3G>A Single submitter
c.8682-12del Single submitter
c.8682-19del Single submitter
c.8845+382A>G Single submitter
c.8845+507A>C Single submitter
c.8846-52del Single submitter
c.8846-53_8846-52del Single submitter
c.9259-19dup Single submitter
c.9372-105AT[7] Single submitter
c.9372-196A>T Single submitter
c.9571-127G>A Single submitter
c.9571-216G>A Single submitter
c.9571-268T>G Single submitter
c.9740-202T>C Single submitter
c.9740-259T>C Single submitter
c.9958+162T>C Single submitter
c.9958+246A>C Single submitter
c.9958+273G>A Single submitter
c.9958+4171T>C Single submitter
c.9958+4175G>A Single submitter
c.9958+8del Single submitter
c.9959-330G>C Single submitter
c.9959-343C>A Single submitter
c.9959-4233A>G Single submitter
c.9959-4301T>C Single submitter
c.-205+226T>C Single submitter
p.Cys3416Gly Single submitter Usher syndrome type 2A
p.Glu3411= Single submitter
p.Leu365Phe Single submitter

Benign/Likely benign 114

c.10183-12C>T Multiple submitters Usher syndrome type 2A
c.10939+19del Multiple submitters
c.10939+19dup Multiple submitters
c.11048-15C>T Multiple submitters retinitis pigmentosa 39
c.11231+45C>T Multiple submitters Usher syndrome type 2A
c.11389+3dup Multiple submitters
c.11390-24CT[10] Multiple submitters
c.11390-24CT[11] Multiple submitters
c.11549-6_11549-5del Multiple submitters
c.11711+71A>T Multiple submitters Usher syndrome type 2A
c.15053-18T>G Multiple submitters
c.15053-4G>T Multiple submitters
c.1644+34A>C Multiple submitters Usher syndrome type 2A
c.1840+19C>G Multiple submitters
c.2167+17A>G Multiple submitters Usher syndrome type 2A
c.3158-7A>G Multiple submitters retinitis pigmentosa 39
c.4081+17del Multiple submitters
c.4252-15dup Multiple submitters retinitis pigmentosa 39
c.4252-36CTTT[5] Multiple submitters retinitis pigmentosa 39
c.4758+3A>G Multiple submitters Usher syndrome type 2A
c.5167+15A>C Multiple submitters
c.5299-15dup Multiple submitters
c.5572+15G>A Multiple submitters retinitis pigmentosa 39
c.6486-18G>A Multiple submitters Usher syndrome type 2A
c.6958-5C>T Multiple submitters Usher syndrome type 2A
c.7121-14del Multiple submitters retinitis pigmentosa 39
c.7300+29A>G Multiple submitters Usher syndrome type 2A
c.785-16_785-15del Multiple submitters retinitis pigmentosa 39
c.848+5G>C Multiple submitters Usher syndrome type 2A
c.8682-25dup Multiple submitters
c.9258+15T>C Multiple submitters Usher syndrome type 2A
c.9259-14A>C Multiple submitters retinitis pigmentosa 39
c.*4A>G Multiple submitters Usher syndrome type 2A
p.Ala2308= Multiple submitters retinitis pigmentosa 39
p.Ala4199= Multiple submitters retinitis pigmentosa 39
p.Ala4987Val Multiple submitters inherited retinal dystrophy
p.Arg1870Gln Multiple submitters retinitis pigmentosa 39
p.Arg1948= Multiple submitters Usher syndrome type 2A
p.Arg1998His Multiple submitters inherited retinal dystrophy
p.Arg2001Cys Multiple submitters Usher syndrome type 2A
p.Arg4468= Multiple submitters retinitis pigmentosa 39
p.Arg4480= Multiple submitters Usher syndrome type 2A
p.Arg4493His Multiple submitters inherited retinal dystrophy
p.Arg4848Gln Multiple submitters inherited retinal dystrophy
p.Arg5031Trp Multiple submitters Usher syndrome type 2A
p.Arg5143Cys Multiple submitters inherited retinal dystrophy
p.Asn1315= Multiple submitters retinitis pigmentosa
p.Asn1714= Multiple submitters inherited retinal dystrophy
p.Asn2014Thr Multiple submitters Usher syndrome type 2A
p.Asn2377Ser Multiple submitters Usher syndrome type 2A
p.Asn3199Asp Multiple submitters inherited retinal dystrophy
p.Asn3617= Multiple submitters retinitis pigmentosa 39
p.Asn5182= Multiple submitters retinitis pigmentosa 39
p.Asp349= Multiple submitters retinitis pigmentosa 39
p.Asp4105= Multiple submitters
p.Asp644Val Multiple submitters inherited retinal dystrophy
p.Asp703= Multiple submitters retinitis pigmentosa
p.Cys3153= Multiple submitters retinitis pigmentosa 39
p.Cys527= Multiple submitters inherited retinal dystrophy
p.Cys577= Multiple submitters retinitis pigmentosa
p.Gln1566= Multiple submitters Usher syndrome type 2A
p.Glu3088Lys Multiple submitters inherited retinal dystrophy
p.Glu3305Asp Multiple submitters inherited retinal dystrophy
p.Glu3731Gln Multiple submitters Usher syndrome type 2A
p.Glu3802Lys Multiple submitters Usher syndrome type 2A
p.Glu4264Lys Multiple submitters inherited retinal dystrophy
p.Gly1177= Multiple submitters Usher syndrome type 2A
p.Gly3325= Multiple submitters retinitis pigmentosa 39
p.Gly4838Glu Multiple submitters inherited retinal dystrophy
p.Gly713Arg Multiple submitters retinitis pigmentosa
p.His2116Arg Multiple submitters
p.His4248Arg Multiple submitters retinitis pigmentosa 39
p.His752= Multiple submitters Usher syndrome type 2A
p.Ile3620Val Multiple submitters retinitis pigmentosa 39
p.Ile5126Thr Multiple submitters retinitis pigmentosa 39
p.Leu2090= Multiple submitters Usher syndrome type 2A
p.Leu2886Phe Multiple submitters inherited retinal dystrophy
p.Leu3932= Multiple submitters Usher syndrome type 2A
p.Lys2026Arg Multiple submitters Usher syndrome type 2A
p.Lys2079Thr Multiple submitters retinitis pigmentosa 39
p.Met2387Thr Multiple submitters retinitis pigmentosa 39
p.Met3868Val Multiple submitters inherited retinal dystrophy
p.Phe2786Ser Multiple submitters Usher syndrome type 2A
p.Pro1978Ser Multiple submitters Usher syndrome type 2A
p.Pro2210Ala Multiple submitters Usher syndrome type 2A
p.Pro3114Ser Multiple submitters inherited retinal dystrophy
p.Pro3504Ala Multiple submitters retinitis pigmentosa 39
p.Pro3893Thr Multiple submitters inherited retinal dystrophy
p.Pro4232= Multiple submitters Usher syndrome type 2A
p.Pro4818= Multiple submitters Usher syndrome type 2A
p.Ser1122Ala Multiple submitters inherited retinal dystrophy
p.Ser1480= Multiple submitters retinitis pigmentosa
p.Ser2170Arg Multiple submitters Usher syndrome type 2A
p.Ser2773= Multiple submitters Usher syndrome type 2A
p.Ser4588Tyr Multiple submitters retinitis pigmentosa 39
p.Ser4619= Multiple submitters retinitis pigmentosa 39
p.Ser4772Phe Multiple submitters Usher syndrome type 2A
p.Thr1515Ala Multiple submitters Usher syndrome type 2A
p.Thr2086Asn Multiple submitters Usher syndrome type 2A
p.Thr3115Ala Multiple submitters inherited retinal dystrophy
p.Thr3506= Multiple submitters retinitis pigmentosa 39
p.Thr3835Ile Multiple submitters inherited retinal dystrophy
p.Thr4918= Multiple submitters retinitis pigmentosa 39
p.Thr645= Multiple submitters retinitis pigmentosa 39
p.Tyr2176= Multiple submitters Usher syndrome type 2A
p.Tyr3241= Multiple submitters Usher syndrome type 2A
p.Tyr4031= Multiple submitters retinitis pigmentosa 39
p.Tyr4273His Multiple submitters retinitis pigmentosa 39
p.Val2228Glu Multiple submitters inherited retinal dystrophy
p.Val2562Ala Multiple submitters retinitis pigmentosa 39
p.Val2820Ile Multiple submitters Usher syndrome type 2A
p.Val2979= Multiple submitters retinitis pigmentosa 39
p.Val3612= Multiple submitters retinitis pigmentosa 39
p.Val4433Leu Multiple submitters retinitis pigmentosa 39

Likely benign 3104

Showing the top 300 by review status; the full set is in the sitemap.

p.Ala2774Thr Expert panel Usher syndrome
p.Ala5165Gly Expert panel Usher syndrome
p.Asp656Asn Expert panel Usher syndrome
p.Gly4759Glu Expert panel Usher syndrome
p.Leu1572Phe Expert panel Usher syndrome ⚠
p.Ser2389= Expert panel Usher syndrome
p.Thr4169Ala Expert panel Usher syndrome
c.10182+9T>C Multiple submitters
c.10183-16C>T Multiple submitters
c.10183-18C>T Multiple submitters
c.10183-20A>C Multiple submitters
c.10387+15G>A Multiple submitters
c.10586-16T>C Multiple submitters
c.10586-17T>C Multiple submitters
c.10740+7G>C Multiple submitters retinitis pigmentosa 39
c.10741-8G>A Multiple submitters retinitis pigmentosa 39
c.10741-97G>A Multiple submitters
c.10939+19_10939+20insAC Multiple submitters
c.10939+19A>G Multiple submitters
c.10939+44C>T Multiple submitters
c.10940-17T>C Multiple submitters
c.11048-14G>A Multiple submitters
c.11048-153A>T Multiple submitters
c.11048-20C>T Multiple submitters
c.11390-10C>T Multiple submitters retinitis pigmentosa 39
c.11390-24CT[6] Multiple submitters
c.11390-24CT[7] Multiple submitters Usher syndrome type 2A
c.11390-57C>T Multiple submitters
c.11390-67C>T Multiple submitters
c.1143+12C>T Multiple submitters Usher syndrome type 2A
c.1143+13G>A Multiple submitters
c.1143+20T>G Multiple submitters
c.1144-16A>C Multiple submitters
c.11548+11T>G Multiple submitters
c.11548+14A>G Multiple submitters
c.11549-7T>G Multiple submitters
c.12294+184T>A Multiple submitters
c.12294+9T>C Multiple submitters
c.1328+52T>C Multiple submitters
c.13812-5T>C Multiple submitters Usher syndrome type 2A
c.14133+131T>C Multiple submitters
c.14344-9C>T Multiple submitters
c.14583-110T>C Multiple submitters
c.14583-19G>A Multiple submitters
c.14969-19A>G Multiple submitters
c.15052+12A>G Multiple submitters
c.15052+14A>G Multiple submitters
c.15053-27T>G Multiple submitters
c.15053-6T>C Multiple submitters
c.15297+14G>A Multiple submitters
c.1550+10T>C Multiple submitters retinitis pigmentosa 39
c.1550+16T>C Multiple submitters
c.1551-9T>C Multiple submitters
c.15519+7T>C Multiple submitters
c.1644+10A>G Multiple submitters
c.1644+19A>C Multiple submitters
c.1645-12T>C Multiple submitters
c.1840+9C>T Multiple submitters Usher syndrome type 2A
c.1971+17A>G Multiple submitters
c.2167+12G>A Multiple submitters
c.2167+18G>A Multiple submitters
c.2168-61T>C Multiple submitters
c.2993+15G>A Multiple submitters
c.2994-17A>G Multiple submitters
c.3157+19A>C Multiple submitters
c.3811+10C>A Multiple submitters retinitis pigmentosa 39
c.3811+17G>A Multiple submitters
c.4252-36CTTT[7] Multiple submitters
c.4252-36CTTT[8] Multiple submitters
c.4396+19A>G Multiple submitters
c.4396+9G>T Multiple submitters
c.4397-11C>T Multiple submitters
c.4397-8del Multiple submitters
c.4627+15C>T Multiple submitters
c.4627+17T>C Multiple submitters
c.4758+15A>G Multiple submitters
c.485+17G>A Multiple submitters
c.486-20T>C Multiple submitters
c.4886-12C>T Multiple submitters retinitis pigmentosa 39
c.4886-6C>T Multiple submitters
c.4987+13A>C Multiple submitters
c.5167+15A>G Multiple submitters
c.5776+7T>G Multiple submitters retinitis pigmentosa 39
c.5777-13A>T Multiple submitters
c.5857+10T>C Multiple submitters
c.5858-12A>G Multiple submitters Usher syndrome type 2A
c.6049+19C>G Multiple submitters
c.6049+20A>G Multiple submitters
c.6049+76A>T Multiple submitters
c.6050-14C>T Multiple submitters
c.6164-42A>C Multiple submitters
c.6325+13G>A Multiple submitters retinitis pigmentosa 39
c.6486-92C>A Multiple submitters
c.651+18T>A Multiple submitters
c.6657+102T>C Multiple submitters
c.6806-10A>G Multiple submitters
c.6958-8A>C Multiple submitters
c.7300+14A>C Multiple submitters
c.7301-5G>A Multiple submitters
c.7595-12T>C Multiple submitters
c.7595-19G>A Multiple submitters
c.8223+11_8223+14del Multiple submitters
c.8223+14T>A Multiple submitters
c.8558+14A>T Multiple submitters
c.8681+14A>G Multiple submitters
c.8682-20T>C Multiple submitters
c.8682-77A>C Multiple submitters
c.9055+17A>G Multiple submitters
c.9055+9A>G Multiple submitters
c.9056-52G>T Multiple submitters
c.9258+10T>C Multiple submitters
c.9259-9T>C Multiple submitters
c.9371+296C>T Multiple submitters
c.9372-4G>T Multiple submitters
c.9571-9A>T Multiple submitters
p.Ala1187= Multiple submitters
p.Ala1459= Multiple submitters Inborn genetic diseases
p.Ala2029= Multiple submitters retinitis pigmentosa 39
p.Ala2038= Multiple submitters retinitis pigmentosa 39
p.Ala2246= Multiple submitters
p.Ala2519= Multiple submitters
p.Ala2623= Multiple submitters
p.Ala2929= Multiple submitters Usher syndrome type 2A
p.Ala2933= Multiple submitters
p.Ala3438Thr Multiple submitters inherited retinal dystrophy
p.Ala3583= Multiple submitters retinitis pigmentosa 39
p.Ala4207= Multiple submitters
p.Ala4246= Multiple submitters
p.Ala4332= Multiple submitters
p.Ala4611= Multiple submitters inherited retinal dystrophy
p.Ala4875= Multiple submitters Usher syndrome type 2A
p.Ala4987= Multiple submitters Usher syndrome type 2A
p.Ala5048= Multiple submitters Usher syndrome type 2A
p.Ala524= Multiple submitters inherited retinal dystrophy
p.Arg2175His Multiple submitters Usher syndrome type 2A
p.Arg2323= Multiple submitters retinitis pigmentosa 39
p.Arg2573= Multiple submitters retinitis pigmentosa 39
p.Arg310= Multiple submitters
p.Arg3134= Multiple submitters retinitis pigmentosa 39
p.Arg3484= Multiple submitters
p.Arg4257= Multiple submitters
p.Arg4299= Multiple submitters retinitis pigmentosa 39
p.Arg4495= Multiple submitters Usher syndrome type 2A
p.Arg4935= Multiple submitters
p.Asn1003= Multiple submitters
p.Asn119= Multiple submitters
p.Asn1388= Multiple submitters
p.Asn1701= Multiple submitters
p.Asn2356= Multiple submitters
p.Asn2377= Multiple submitters
p.Asn2751= Multiple submitters
p.Asn2930Ser Multiple submitters Inborn genetic diseases
p.Asn3007= Multiple submitters
p.Asn3047= Multiple submitters
p.Asn3067= Multiple submitters Usher syndrome type 2A
p.Asn3199= Multiple submitters
p.Asn3257= Multiple submitters Usher syndrome type 2A
p.Asn3330= Multiple submitters Usher syndrome type 2A
p.Asn3808= Multiple submitters
p.Asn3984= Multiple submitters
p.Asn4587= Multiple submitters
p.Asn4762= Multiple submitters
p.Asn4958= Multiple submitters
p.Asn5160= Multiple submitters
p.Asp1661= Multiple submitters retinitis pigmentosa 39
p.Asp1943= Multiple submitters Usher syndrome type 2A
p.Asp2093= Multiple submitters retinitis pigmentosa 39
p.Asp2237= Multiple submitters retinitis pigmentosa 39
p.Asp2255= Multiple submitters Usher syndrome type 2A
p.Asp3165= Multiple submitters Usher syndrome type 2A
p.Asp4123= Multiple submitters Usher syndrome type 2A
p.Asp4208= Multiple submitters Usher syndrome type 2A
p.Asp4482= Multiple submitters
p.Asp4968= Multiple submitters retinitis pigmentosa 39
p.Asp5000= Multiple submitters
p.Asp558= Multiple submitters
p.Asp642= Multiple submitters
p.Asp974Asn Multiple submitters Usher syndrome type 2A
p.Cys3207= Multiple submitters
p.Cys4728= Multiple submitters Usher syndrome type 2A
p.Gln2472= Multiple submitters Usher syndrome type 2A
p.Gln299= Multiple submitters retinitis pigmentosa 39
p.Gln4371= Multiple submitters Usher syndrome type 2A
p.Gln4592Arg Multiple submitters retinitis pigmentosa 39
p.Gln4598= Multiple submitters
p.Gln4865= Multiple submitters Usher syndrome type 2A
p.Gln566= Multiple submitters
p.Glu1314= Multiple submitters
p.Glu1913= Multiple submitters retinitis pigmentosa 39
p.Glu1926= Multiple submitters
p.Glu2230= Multiple submitters
p.Glu2655= Multiple submitters inherited retinal dystrophy
p.Glu2992= Multiple submitters
p.Glu3209= Multiple submitters
p.Glu3229= Multiple submitters
p.Glu3408= Multiple submitters
p.Glu3448= Multiple submitters retinitis pigmentosa 39
p.Glu3562= Multiple submitters
p.Glu3773= Multiple submitters
p.Glu4133= Multiple submitters Usher syndrome type 2A
p.Glu4445= Multiple submitters
p.Glu541= Multiple submitters retinitis pigmentosa 39
p.Gly1451= Multiple submitters
p.Gly2171= Multiple submitters Usher syndrome type 2A
p.Gly2211= Multiple submitters
p.Gly2476= Multiple submitters inherited retinal dystrophy
p.Gly2726= Multiple submitters
p.Gly3289= Multiple submitters
p.Gly3436= Multiple submitters
p.Gly3483= Multiple submitters
p.Gly3797= Multiple submitters
p.Gly420= Multiple submitters
p.Gly4647Arg Multiple submitters inherited retinal dystrophy
p.Gly4897= Multiple submitters
p.Gly4976= Multiple submitters Usher syndrome type 2A
p.Gly5095= Multiple submitters
p.Gly659= Multiple submitters inherited retinal dystrophy
p.Gly700= Multiple submitters
p.Gly723= Multiple submitters retinitis pigmentosa 39
p.Gly732= Multiple submitters
p.His2145= Multiple submitters
p.His3182= Multiple submitters
p.His3412= Multiple submitters
p.His3826= Multiple submitters
p.His523= Multiple submitters
p.His728= Multiple submitters
p.Ile2399= Multiple submitters Usher syndrome type 2A
p.Ile3179Thr Multiple submitters
p.Ile4186= Multiple submitters Usher syndrome type 2A
p.Ile4462= Multiple submitters retinitis pigmentosa 39
p.Ile4474= Multiple submitters
p.Ile4764= Multiple submitters
p.Ile4837= Multiple submitters retinitis pigmentosa 39
p.Ile5057= Multiple submitters
p.Ile5115= Multiple submitters
p.Leu105Phe Multiple submitters Usher syndrome type 2A
p.Leu1283= Multiple submitters
p.Leu1556= Multiple submitters retinitis pigmentosa 39
p.Leu1791= Multiple submitters
p.Leu1846= Multiple submitters retinitis pigmentosa 39
p.Leu2073= Multiple submitters
p.Leu2276= Multiple submitters
p.Leu2398= Multiple submitters retinitis pigmentosa 39
p.Leu2421= Multiple submitters
p.Leu2500= Multiple submitters
p.Leu2590= Multiple submitters Usher syndrome type 2A
p.Leu2748= Multiple submitters
p.Leu2755= Multiple submitters retinitis pigmentosa 39
p.Leu3074= Multiple submitters Usher syndrome type 2A
p.Leu3146= Multiple submitters
p.Leu3197= Multiple submitters
p.Leu342= Multiple submitters
p.Leu3466= Multiple submitters retinitis pigmentosa 39
p.Leu3632= Multiple submitters Usher syndrome type 2A
p.Leu3711= Multiple submitters
p.Leu3954= Multiple submitters inherited retinal dystrophy
p.Leu457= Multiple submitters
p.Leu4795= Multiple submitters
p.Leu4840= Multiple submitters inherited retinal dystrophy
p.Leu5202= Multiple submitters
p.Leu8= Multiple submitters Usher syndrome type 2A
p.Lys1334= Multiple submitters retinitis pigmentosa 39
p.Lys1435= Multiple submitters
p.Lys209= Multiple submitters retinitis pigmentosa 39
p.Lys2213= Multiple submitters Usher syndrome type 2A
p.Lys2532= Multiple submitters retinitis pigmentosa 39
p.Lys2988= Multiple submitters
p.Lys3437= Multiple submitters retinitis pigmentosa 39
p.Lys3467= Multiple submitters
p.Lys3737= Multiple submitters
p.Met1820Thr Multiple submitters inherited retinal dystrophy
p.Phe1859= Multiple submitters inherited retinal dystrophy
p.Phe390= Multiple submitters
p.Phe4195= Multiple submitters Usher syndrome type 2A
p.Phe4223= Multiple submitters
p.Phe4568= Multiple submitters inherited retinal dystrophy
p.Phe4649= Multiple submitters
p.Pro1117= Multiple submitters retinitis pigmentosa 39
p.Pro1684= Multiple submitters
p.Pro1710= Multiple submitters retinitis pigmentosa 39
p.Pro2241= Multiple submitters
p.Pro2592= Multiple submitters Usher syndrome type 2A
p.Pro2624= Multiple submitters
p.Pro2785= Multiple submitters retinitis pigmentosa 39
p.Pro3114= Multiple submitters retinitis pigmentosa 39
p.Pro3213= Multiple submitters
p.Pro3590= Multiple submitters
p.Pro3671= Multiple submitters
p.Pro3801= Multiple submitters
p.Pro4006= Multiple submitters
p.Pro433= Multiple submitters retinitis pigmentosa 39
p.Pro4378= Multiple submitters
p.Pro4521= Multiple submitters Usher syndrome type 2A
p.Pro4601= Multiple submitters
p.Pro4660= Multiple submitters
p.Pro5007= Multiple submitters
p.Pro5107= Multiple submitters Usher syndrome type 2A
p.Pro533= Multiple submitters
p.Pro574= Multiple submitters retinitis pigmentosa 39
p.Pro693= Multiple submitters

Uncertain significance 3253

Showing the top 300 by review status; the full set is in the sitemap.

p.Ala4049Thr Expert panel Usher syndrome type 2A
p.Ala4807Thr Expert panel Usher syndrome
p.Cys3295Trp Expert panel Usher syndrome
p.Cys3307Trp Expert panel Usher syndrome
p.Gly2726Glu Expert panel Usher syndrome
p.His1608Arg Expert panel Usher syndrome ⚠
p.Leu3145Phe Expert panel Usher syndrome ⚠
p.Leu4406Pro Expert panel Usher syndrome
p.Lys1680Arg Expert panel Usher syndrome ⚠
p.Pro2078Arg Expert panel Usher syndrome ⚠
p.Pro2149Gln Expert panel Usher syndrome
p.Pro4466Ser Expert panel Usher syndrome ⚠
p.Tyr2028Cys Expert panel Usher syndrome
p.Val2244Met Expert panel Usher syndrome ⚠
c.10182+5T>C Multiple submitters Usher syndrome type 2A
c.10387+5C>G Multiple submitters retinitis pigmentosa 39
c.10939+5G>A Multiple submitters
c.13811+3A>G Multiple submitters retinitis pigmentosa 39
c.1840+4A>G Multiple submitters Usher syndrome type 2A
c.3157+5G>A Multiple submitters
c.3316+5G>C Multiple submitters retinitis pigmentosa 39
c.3316+6T>C Multiple submitters retinitis pigmentosa 39
c.4251+3A>G Multiple submitters retinitis pigmentosa 39
c.4627+3_4627+6del Multiple submitters inherited retinal dystrophy
c.4627+801C>G Multiple submitters retinitis pigmentosa
c.5167+4A>G Multiple submitters retinitis pigmentosa 39
c.6050-3T>C Multiple submitters Usher syndrome type 2A
c.6325+4A>G Multiple submitters
c.6806-3C>T Multiple submitters retinitis pigmentosa 39
c.7121-5A>G Multiple submitters
c.8845+6_8845+9del Multiple submitters retinitis pigmentosa 39
c.9958+4A>G Multiple submitters
c.-259G>T Multiple submitters
p.Ala1009Gly Multiple submitters Usher syndrome type 2A ⚠
p.Ala120Gly Multiple submitters ⚠
p.Ala120Thr Multiple submitters ⚠
p.Ala1351Val Multiple submitters Usher syndrome type 2A ⚠
p.Ala1414Val Multiple submitters inherited retinal dystrophy ⚠
p.Ala1561Val Multiple submitters ⚠
p.Ala1617Val Multiple submitters Inborn genetic diseases
p.Ala1686Val Multiple submitters ⚠
p.Ala1877Glu Multiple submitters Inborn genetic diseases
p.Ala1877Ser Multiple submitters inherited retinal dystrophy
p.Ala1952Val Multiple submitters Inborn genetic diseases ⚠
p.Ala2055Thr Multiple submitters retinitis pigmentosa 39 ⚠
p.Ala2111Glu Multiple submitters Inborn genetic diseases ⚠
p.Ala2234Val Multiple submitters Inborn genetic diseases ⚠
p.Ala2246Asp Multiple submitters Inborn genetic diseases ⚠
p.Ala2297Ser Multiple submitters retinitis pigmentosa 39 ⚠
p.Ala2308Glu Multiple submitters ⚠
p.Ala2351Thr Multiple submitters Usher syndrome type 2A ⚠
p.Ala2459Gly Multiple submitters Inborn genetic diseases ⚠
p.Ala2463Thr Multiple submitters retinitis pigmentosa 39
p.Ala2529Thr Multiple submitters ⚠
p.Ala2602Gly Multiple submitters ⚠
p.Ala2623Ser Multiple submitters ⚠
p.Ala279Glu Multiple submitters retinitis pigmentosa 39
p.Ala3154Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala3230Ser Multiple submitters ⚠
p.Ala3492Ser Multiple submitters retinitis pigmentosa 39 ⚠
p.Ala3584Pro Multiple submitters ⚠
p.Ala3603Thr Multiple submitters ⚠
p.Ala3846Val Multiple submitters Inborn genetic diseases ⚠
p.Ala3865Glu Multiple submitters retinitis pigmentosa 39 ⚠
p.Ala3922Thr Multiple submitters Usher syndrome type 2A ⚠
p.Ala3963Thr Multiple submitters retinitis pigmentosa 39 ⚠
p.Ala3975Thr Multiple submitters Usher syndrome type 2A ⚠
p.Ala4134Val Multiple submitters ⚠
p.Ala4153Val Multiple submitters retinitis pigmentosa 39 ⚠
p.Ala416Ser Multiple submitters retinitis pigmentosa 39
p.Ala416Thr Multiple submitters retinitis pigmentosa 39
p.Ala4207Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala4332Val Multiple submitters Inborn genetic diseases ⚠
p.Ala4542Gly Multiple submitters retinitis pigmentosa 39 ⚠
p.Ala4611Val Multiple submitters retinitis pigmentosa 39
p.Ala4714Ser Multiple submitters Usher syndrome type 2A ⚠
p.Ala4718Glu Multiple submitters retinitis pigmentosa 39
p.Ala4718Pro Multiple submitters
p.Ala4740Thr Multiple submitters ⚠
p.Ala4775Asp Multiple submitters ⚠
p.Ala4775Thr Multiple submitters ⚠
p.Ala4894Thr Multiple submitters Usher syndrome type 2A ⚠
p.Ala5048Thr Multiple submitters Usher syndrome type 2A ⚠
p.Ala5048Val Multiple submitters retinitis pigmentosa ⚠
p.Ala508Thr Multiple submitters retinitis pigmentosa 39 ⚠
p.Ala5121Pro Multiple submitters ⚠
p.Ala5183Thr Multiple submitters Usher syndrome type 2A ⚠
p.Ala5183Val Multiple submitters ⚠
p.Ala569Thr Multiple submitters ⚠
p.Ala634Ser Multiple submitters retinitis pigmentosa ⚠
p.Arg1135Ser Multiple submitters Inborn genetic diseases ⚠
p.Arg1295Gln Multiple submitters retinitis pigmentosa 39 ⚠
p.Arg1295Leu Multiple submitters Inborn genetic diseases ⚠
p.Arg1438Ser Multiple submitters retinitis pigmentosa 39 ⚠
p.Arg1438Thr Multiple submitters Inborn genetic diseases ⚠
p.Arg1521His Multiple submitters retinitis pigmentosa 39 ⚠
p.Arg1549Pro Multiple submitters ⚠
p.Arg1578His Multiple submitters retinitis pigmentosa 39
p.Arg1659Lys Multiple submitters
p.Arg1885Gly Multiple submitters Usher syndrome type 2A
p.Arg189Cys Multiple submitters Usher syndrome type 2A
p.Arg189Leu Multiple submitters Usher syndrome type 2A
p.Arg1930Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg1946Gln Multiple submitters inherited retinal dystrophy ⚠
p.Arg1948Cys Multiple submitters retinitis pigmentosa 39
p.Arg1948His Multiple submitters
p.Arg1964Cys Multiple submitters inherited retinal dystrophy ⚠
p.Arg1981Gly Multiple submitters Usher syndrome type 2A ⚠
p.Arg1998Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg2001His Multiple submitters ⚠
p.Arg2175Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg2292Cys Multiple submitters Usher syndrome type 2A ⚠
p.Arg2323Gln Multiple submitters Usher syndrome type 2A ⚠
p.Arg2343Gln Multiple submitters retinitis pigmentosa 39 ⚠
p.Arg2343Trp Multiple submitters retinitis pigmentosa 39
p.Arg2354His Multiple submitters Leber congenital amaurosis ⚠
p.Arg2460His Multiple submitters Usher syndrome type 2A ⚠
p.Arg2509Gln Multiple submitters Usher syndrome type 2A ⚠
p.Arg2509Leu Multiple submitters
p.Arg2557Thr Multiple submitters Inborn genetic diseases ⚠
p.Arg2573Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg2699Gln Multiple submitters retinitis pigmentosa 39
p.Arg2699Trp Multiple submitters Usher syndrome type 2A
p.Arg2723Gln Multiple submitters retinitis pigmentosa 39
p.Arg2723Leu Multiple submitters
p.Arg283Lys Multiple submitters
p.Arg2894= Multiple submitters
p.Arg2894Ser Multiple submitters
p.Arg2914Gln Multiple submitters retinitis pigmentosa 39 ⚠
p.Arg3037Cys Multiple submitters retinitis pigmentosa 39 ⚠
p.Arg3119Cys Multiple submitters Usher syndrome type 2A ⚠
p.Arg3119His Multiple submitters retinitis pigmentosa 39 ⚠
p.Arg317Gln Multiple submitters retinitis pigmentosa ⚠
p.Arg3205Cys Multiple submitters ⚠
p.Arg3258Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg3258Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg3317Cys Multiple submitters retinitis pigmentosa 39 ⚠
p.Arg3475Lys Multiple submitters Inborn genetic diseases ⚠
p.Arg3484Gln Multiple submitters Usher syndrome type 2A ⚠
p.Arg3538Gln Multiple submitters Usher syndrome type 2A
p.Arg3543Cys Multiple submitters inherited retinal dystrophy ⚠
p.Arg3543His Multiple submitters retinitis pigmentosa 39 ⚠
p.Arg3545Gln Multiple submitters Usher syndrome type 2A ⚠
p.Arg3545Trp Multiple submitters retinitis pigmentosa 39
p.Arg3689Gln Multiple submitters inherited retinal dystrophy ⚠
p.Arg3744Gly Multiple submitters retinitis pigmentosa 39 ⚠
p.Arg3857Gly Multiple submitters ⚠
p.Arg3904Lys Multiple submitters retinitis pigmentosa 39 ⚠
p.Arg398Lys Multiple submitters Inborn genetic diseases ⚠
p.Arg4040Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg4120Cys Multiple submitters inherited retinal dystrophy
p.Arg4120His Multiple submitters retinitis pigmentosa 39
p.Arg4121Cys Multiple submitters retinitis pigmentosa 39
p.Arg4187Cys Multiple submitters Usher syndrome type 2A
p.Arg4187Leu Multiple submitters retinitis pigmentosa 39
p.Arg4299Ser Multiple submitters retinitis pigmentosa 39
p.Arg4475Gly Multiple submitters retinitis pigmentosa 39 ⚠
p.Arg4481Gly Multiple submitters retinitis pigmentosa 39
p.Arg4481Lys Multiple submitters
p.Arg4493Cys Multiple submitters Usher syndrome type 2A
p.Arg449Cys Multiple submitters ⚠
p.Arg4570Cys Multiple submitters
p.Arg4848Trp Multiple submitters Usher syndrome type 2A ⚠
p.Arg4972Cys Multiple submitters Monogenic hearing loss ⚠
p.Arg5031Gln Multiple submitters inherited retinal dystrophy ⚠
p.Arg5108Trp Multiple submitters retinitis pigmentosa 39 ⚠
p.Arg5116Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg5119Gln Multiple submitters inherited retinal dystrophy ⚠
p.Arg5125Cys Multiple submitters retinitis pigmentosa 39 ⚠
p.Arg5194Cys Multiple submitters Usher syndrome type 2A ⚠
p.Arg551Cys Multiple submitters
p.Arg551His Multiple submitters Inborn genetic diseases ⚠
p.Arg562His Multiple submitters ⚠
p.Arg626Gln Multiple submitters Usher syndrome type 2A
p.Arg63Gln Multiple submitters Usher syndrome type 2A ⚠
p.Arg63Pro Multiple submitters Usher syndrome type 2A ⚠
p.Arg671Lys Multiple submitters Inborn genetic diseases ⚠
p.Arg981Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg981His Multiple submitters Inborn genetic diseases ⚠
p.Asn1003Ser Multiple submitters retinitis pigmentosa 39 ⚠
p.Asn1071Ser Multiple submitters Usher syndrome type 2A ⚠
p.Asn1270Ser Multiple submitters Usher syndrome type 2A
p.Asn1313Asp Multiple submitters Usher syndrome type 2A ⚠
p.Asn1313Ser Multiple submitters Usher syndrome type 2A ⚠
p.Asn1379Ser Multiple submitters retinitis pigmentosa 39 ⚠
p.Asn1479Ile Multiple submitters retinitis pigmentosa 39
p.Asn1565Asp Multiple submitters ⚠
p.Asn1681Asp Multiple submitters Inborn genetic diseases ⚠
p.Asn1704Ile Multiple submitters retinitis pigmentosa 39 ⚠
p.Asn1758Ser Multiple submitters Inborn genetic diseases
p.Asn1779His Multiple submitters Inborn genetic diseases
p.Asn1887Ser Multiple submitters
p.Asn1903Ser Multiple submitters Usher syndrome type 2A ⚠
p.Asn2014Lys Multiple submitters inherited retinal dystrophy ⚠
p.Asn2027Thr Multiple submitters retinitis pigmentosa 39 ⚠
p.Asn2082Thr Multiple submitters
p.Asn2195Ser Multiple submitters inherited retinal dystrophy ⚠
p.Asn2285Ser Multiple submitters retinitis pigmentosa 39 ⚠
p.Asn228Ser Multiple submitters ⚠
p.Asn2413Ser Multiple submitters Usher syndrome type 2A
p.Asn2413Thr Multiple submitters Usher syndrome type 2A
p.Asn2514His Multiple submitters Usher syndrome type 2A
p.Asn2560Ser Multiple submitters inherited retinal dystrophy
p.Asn2651Asp Multiple submitters retinitis pigmentosa 39 ⚠
p.Asn2651Ser Multiple submitters Usher syndrome type 2A
p.Asn2851Asp Multiple submitters ⚠
p.Asn2851Thr Multiple submitters Inborn genetic diseases ⚠
p.Asn2878Ser Multiple submitters ⚠
p.Asn2906Tyr Multiple submitters Usher syndrome type 2A ⚠
p.Asn2930Ile Multiple submitters Inborn genetic diseases ⚠
p.Asn2930Lys Multiple submitters retinitis pigmentosa 39 ⚠
p.Asn3032Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn3419_Thr3421delinsThrPheAlaLeuCysSerAsp Multiple submitters retinitis pigmentosa 39
p.Asn3512His Multiple submitters Usher syndrome type 2A ⚠
p.Asn3520Ser Multiple submitters retinitis pigmentosa 39 ⚠
p.Asn357Asp Multiple submitters Inborn genetic diseases ⚠
p.Asn3617Asp Multiple submitters
p.Asn3694Ile Multiple submitters Inborn genetic diseases
p.Asn3709Lys Multiple submitters Inborn genetic diseases
p.Asn3709Ser Multiple submitters
p.Asn3738Ile Multiple submitters Usher syndrome type 2A ⚠
p.Asn4094Lys Multiple submitters
p.Asn4094Thr Multiple submitters Usher syndrome type 2A
p.Asn4221Asp Multiple submitters Inborn genetic diseases ⚠
p.Asn4395Thr Multiple submitters Inborn genetic diseases ⚠
p.Asn443His Multiple submitters Usher syndrome type 2A ⚠
p.Asn4446Thr Multiple submitters ⚠
p.Asn4469Ser Multiple submitters retinitis pigmentosa 39 ⚠
p.Asn4597Ser Multiple submitters ⚠
p.Asn4685Ile Multiple submitters Inborn genetic diseases ⚠
p.Asn4754Thr Multiple submitters Inborn genetic diseases ⚠
p.Asn4800Asp Multiple submitters Usher syndrome type 2A ⚠
p.Asn4856Ser Multiple submitters retinitis pigmentosa 39
p.Asn5090His Multiple submitters Inborn genetic diseases ⚠
p.Asn5097Ser Multiple submitters ⚠
p.Asn5160Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn571Ser Multiple submitters ⚠
p.Asn682Lys Multiple submitters Usher syndrome type 2A ⚠
p.Asn760Ser Multiple submitters retinitis pigmentosa ⚠
p.Asp112Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp1217Asn Multiple submitters Usher syndrome type 2A ⚠
p.Asp1540Asn Multiple submitters retinitis pigmentosa 39 ⚠
p.Asp1604Asn Multiple submitters Usher syndrome type 2A
p.Asp1604Glu Multiple submitters ⚠
p.Asp1865Gly Multiple submitters Inborn genetic diseases
p.Asp1889Gly Multiple submitters Usher syndrome type 2A ⚠
p.Asp1889His Multiple submitters Inborn genetic diseases
p.Asp2109Asn Multiple submitters Usher syndrome type 2A ⚠
p.Asp2400Asn Multiple submitters ⚠
p.Asp2952Tyr Multiple submitters Inborn genetic diseases
p.Asp3017His Multiple submitters Inborn genetic diseases
p.Asp3112_Arg3119del Multiple submitters retinitis pigmentosa 39
p.Asp3162Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp326Gly Multiple submitters
p.Asp3288His Multiple submitters inherited retinal dystrophy ⚠
p.Asp3333Gly Multiple submitters retinitis pigmentosa 39 ⚠
p.Asp3463Gly Multiple submitters inherited retinal dystrophy ⚠
p.Asp3497Asn Multiple submitters ⚠
p.Asp3497Gly Multiple submitters Usher syndrome type 2A ⚠
p.Asp3736Asn Multiple submitters Usher syndrome type 2A
p.Asp374Asn Multiple submitters Usher syndrome type 2A
p.Asp4008Asn Multiple submitters Usher syndrome type 2A
p.Asp411Asn Multiple submitters
p.Asp4208Asn Multiple submitters ⚠
p.Asp4227Asn Multiple submitters
p.Asp4988Gly Multiple submitters ⚠
p.Asp5103Asn Multiple submitters Usher syndrome type 2A ⚠
p.Asp5176Asn Multiple submitters Usher syndrome type 2A ⚠
p.Asp525Asn Multiple submitters ⚠
p.Asp528Asn Multiple submitters retinitis pigmentosa 39
p.Asp550His Multiple submitters retinitis pigmentosa 39
p.Asp606His Multiple submitters Inborn genetic diseases
p.Asp622His Multiple submitters Inborn genetic diseases
p.Asp62Asn Multiple submitters retinitis pigmentosa 39 ⚠
p.Asp631His Multiple submitters retinitis pigmentosa 39 ⚠
p.Asp741Glu Multiple submitters Usher syndrome type 2A ⚠
p.Cys1023Tyr Multiple submitters Usher syndrome type 2A ⚠
p.Cys1195Phe Multiple submitters retinitis pigmentosa
p.Cys2040Arg Multiple submitters
p.Cys2040Ser Multiple submitters Inborn genetic diseases
p.Cys3180Ser Multiple submitters Inborn genetic diseases
p.Cys3222Phe Multiple submitters
p.Cys3223Ser Multiple submitters
p.Cys3268Tyr Multiple submitters Usher syndrome type 2A
p.Cys3282Phe Multiple submitters Inborn genetic diseases
p.Cys3295Phe Multiple submitters retinitis pigmentosa 39
p.Cys3295Tyr Multiple submitters inherited retinal dystrophy
p.Cys3323Gly Multiple submitters retinitis pigmentosa 39
p.Cys3399Tyr Multiple submitters Usher syndrome type 2A ⚠
p.Cys3403Tyr Multiple submitters Usher syndrome type 2A
p.Cys3425Phe Multiple submitters
p.Cys4140Phe Multiple submitters retinitis pigmentosa 39
p.Cys4140Ser Multiple submitters
p.Cys4194Tyr Multiple submitters retinitis pigmentosa 39 ⚠
p.Cys4810Phe Multiple submitters Usher syndrome type 2A
p.Cys4870Tyr Multiple submitters Usher syndrome type 2A
p.Cys4878Gly Multiple submitters Usher syndrome type 2A
p.Cys527Phe Multiple submitters retinitis pigmentosa 39 ⚠
p.Cys549Ser Multiple submitters Usher syndrome type 2A ⚠
p.Cys549Tyr Multiple submitters inherited retinal dystrophy ⚠