OR2W1-AS1
Basic information
Region (hg38): 6:29035991-29090485
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (4 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR2W1-AS1 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) | 0 | |||||
splice region | 0 | |||||
non coding | 4 | |||||
Total | 0 | 0 | 4 | 0 | 0 |
Variants in OR2W1-AS1
This is a list of pathogenic ClinVar variants found in the OR2W1-AS1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
6-29044225-A-C | not specified | Uncertain significance (Nov 27, 2023) | ||
6-29044575-C-T | not specified | Likely benign (Apr 01, 2024) | ||
6-29044642-C-G | not specified | Likely benign (Sep 22, 2023) | ||
6-29044701-A-C | not specified | Uncertain significance (Oct 12, 2021) | ||
6-29044818-A-G | not specified | Uncertain significance (Jun 10, 2024) | ||
6-29044959-A-G | not specified | Uncertain significance (Nov 08, 2022) | ||
6-29045000-A-C | not specified | Uncertain significance (Mar 05, 2024) | ||
6-29045036-A-G | not specified | Uncertain significance (Feb 17, 2024) | ||
6-29045108-A-G | not specified | Likely benign (Jun 16, 2024) | ||
6-29045115-G-T | not specified | Uncertain significance (Dec 16, 2022) | ||
6-29045135-A-G | not specified | Uncertain significance (Apr 08, 2023) | ||
6-29076428-G-T | not specified | Likely benign (Oct 05, 2021) | ||
6-29076463-A-G | not specified | Uncertain significance (Sep 16, 2021) | ||
6-29086317-C-T | not specified | Likely benign (Feb 22, 2023) | ||
6-29086318-A-G | not specified | Uncertain significance (Dec 14, 2023) | ||
6-29086515-A-G | not specified | Uncertain significance (Nov 17, 2022) | ||
6-29086516-T-C | not specified | Uncertain significance (Sep 27, 2021) | ||
6-29086521-G-C | not specified | Uncertain significance (Dec 11, 2023) | ||
6-29086660-C-A | not specified | Likely benign (Apr 06, 2024) | ||
6-29086666-T-G | not specified | Uncertain significance (Jun 17, 2024) | ||
6-29086678-C-T | not specified | Uncertain significance (Jun 17, 2024) | ||
6-29086797-A-G | not specified | Likely benign (May 20, 2024) | ||
6-29086827-C-G | not specified | Uncertain significance (Aug 12, 2021) | ||
6-29086848-A-T | not specified | Uncertain significance (Mar 18, 2024) | ||
6-29086866-C-A | not specified | Uncertain significance (Sep 14, 2022) |
GnomAD
Source:
dbNSFP
Source: