USH2A-AS2
Basic information
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (410 variants)
- Usher syndrome type 2A (103 variants)
- Retinitis pigmentosa 39 (91 variants)
- not specified (35 variants)
- Retinal dystrophy (21 variants)
- Retinitis pigmentosa 39;Usher syndrome type 2A (16 variants)
- Retinitis pigmentosa (14 variants)
- Usher syndrome type 2A;Retinitis pigmentosa 39 (13 variants)
- Inborn genetic diseases (12 variants)
- Usher syndrome (11 variants)
- Rare genetic deafness (5 variants)
- Usher syndrome type 2 (4 variants)
- USH2A-related condition (3 variants)
- Hearing impairment (2 variants)
- USH2A-Related Disorders (2 variants)
- 13 conditions (1 variants)
- Autosomal recessive retinitis pigmentosa (1 variants)
- Childhood onset hearing loss (1 variants)
- Malignant tumor of prostate (1 variants)
- Sensorineural hearing impairment (1 variants)
- Leber congenital amaurosis (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the USH2A-AS2 gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
---|---|---|---|---|---|---|
synonymous | 0 | |||||
missense | 0 | |||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 12 | |||||
splice region ? | 0 | |||||
non coding ? | 54 | 48 | 148 | 166 | 22 | 438 |
Total | 56 | 51 | 151 | 170 | 22 |
Highest pathogenic variant AF is 0.0000263
GnomAD
Source:
dbNSFP
Source: