SPESP1-NOX5
Basic information
Region (hg38): 15:68930504-69062743
Links
Phenotypes
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the SPESP1-NOX5 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 | 0 | |||||
| Total | 0 | 0 | 0 | 0 | 0 |
Variants in SPESP1-NOX5
This is a list of pathogenic ClinVar variants found in the SPESP1-NOX5 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 15-68930679-C-T | not specified | Uncertain significance (Aug 15, 2023) | ||
| 15-68945622-G-C | not specified | Uncertain significance (Jun 10, 2024) | ||
| 15-68945634-A-G | not specified | Uncertain significance (Nov 10, 2024) | ||
| 15-68945695-G-A | not specified | Uncertain significance (Jan 03, 2022) | ||
| 15-68945695-G-T | not specified | Uncertain significance (Sep 03, 2024) | ||
| 15-68945722-A-G | not specified | Uncertain significance (Aug 13, 2021) | ||
| 15-68945723-T-G | not specified | Uncertain significance (Oct 06, 2023) | ||
| 15-68945798-T-A | not specified | Uncertain significance (Jul 20, 2021) | ||
| 15-68945806-C-G | not specified | Uncertain significance (Mar 06, 2023) | ||
| 15-68945833-C-T | not specified | Uncertain significance (Mar 06, 2023) | ||
| 15-68945857-C-T | not specified | Likely benign (Sep 30, 2024) | ||
| 15-68945862-A-G | not specified | Uncertain significance (Jan 23, 2024) | ||
| 15-68945865-G-C | not specified | Uncertain significance (Aug 30, 2021) | ||
| 15-68945888-T-G | not specified | Uncertain significance (Mar 31, 2023) | ||
| 15-68945946-C-A | not specified | Uncertain significance (Apr 18, 2024) | ||
| 15-68945946-C-T | not specified | Uncertain significance (Nov 27, 2024) | ||
| 15-68945952-A-G | not specified | Uncertain significance (Nov 26, 2024) | ||
| 15-68945953-T-C | not specified | Uncertain significance (Dec 30, 2023) | ||
| 15-68946055-T-C | not specified | Uncertain significance (Feb 08, 2023) | ||
| 15-68946111-T-G | not specified | Uncertain significance (Jun 19, 2024) | ||
| 15-68946132-C-G | not specified | Uncertain significance (Apr 29, 2024) | ||
| 15-68946133-C-A | not specified | Uncertain significance (Apr 25, 2023) | ||
| 15-68946168-G-A | not specified | Likely benign (Aug 19, 2023) | ||
| 15-68946187-C-T | not specified | Uncertain significance (Dec 06, 2022) | ||
| 15-68946228-G-T | not specified | Uncertain significance (Aug 17, 2021) |
GnomAD
Source:
dbNSFP
Source: