STAG3L5P-PVRIG2P-PILRB
Basic information
Region (hg38): 7:100336079-100367831
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (13 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the STAG3L5P-PVRIG2P-PILRB 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 | 12 | 13 | ||||
| Total | 0 | 0 | 12 | 1 | 0 |
Variants in STAG3L5P-PVRIG2P-PILRB
This is a list of pathogenic ClinVar variants found in the STAG3L5P-PVRIG2P-PILRB region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 7-100358713-A-T | not specified | Uncertain significance (Jun 29, 2022) | ||
| 7-100358758-A-G | not specified | Uncertain significance (Mar 07, 2024) | ||
| 7-100358779-C-T | not specified | Uncertain significance (Feb 06, 2023) | ||
| 7-100358792-A-G | not specified | Uncertain significance (Mar 16, 2022) | ||
| 7-100358843-G-A | not specified | Uncertain significance (Aug 14, 2023) | ||
| 7-100358848-C-G | not specified | Uncertain significance (Feb 15, 2023) | ||
| 7-100358854-C-T | not specified | Uncertain significance (May 09, 2024) | ||
| 7-100358911-C-T | not specified | Uncertain significance (Jan 17, 2024) | ||
| 7-100358912-G-A | not specified | Uncertain significance (Aug 16, 2021) | ||
| 7-100358928-G-T | not specified | Uncertain significance (Mar 26, 2024) | ||
| 7-100358941-G-A | not specified | Likely benign (Jun 10, 2024) | ||
| 7-100358971-C-G | not specified | Uncertain significance (Jun 21, 2023) | ||
| 7-100359007-G-A | not specified | Uncertain significance (Apr 07, 2023) | ||
| 7-100359041-T-G | not specified | Likely benign (Mar 25, 2024) | ||
| 7-100359070-A-G | not specified | Uncertain significance (Feb 11, 2022) | ||
| 7-100359074-C-T | not specified | Uncertain significance (Dec 13, 2023) | ||
| 7-100359343-C-A | not specified | Likely benign (Feb 05, 2024) | ||
| 7-100359372-A-G | not specified | Likely benign (Aug 17, 2022) | ||
| 7-100359426-T-C | not specified | Uncertain significance (Dec 14, 2021) | ||
| 7-100359435-A-G | not specified | Uncertain significance (Sep 29, 2022) | ||
| 7-100359472-C-T | not specified | Uncertain significance (Jun 05, 2024) | ||
| 7-100359481-A-G | not specified | Uncertain significance (Mar 29, 2023) | ||
| 7-100359498-C-G | not specified | Uncertain significance (Sep 17, 2021) | ||
| 7-100359508-T-G | not specified | Uncertain significance (Aug 16, 2022) |
GnomAD
Source:
dbNSFP
Source: