POLR2J2-UPK3BL1
Basic information
Region (hg38): 7:102637049-102671641
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 POLR2J2-UPK3BL1 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 POLR2J2-UPK3BL1
This is a list of pathogenic ClinVar variants found in the POLR2J2-UPK3BL1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 7-102637565-G-A | not specified | Uncertain significance (Jun 24, 2022) | ||
| 7-102637568-G-T | not specified | Likely benign (Jun 11, 2024) | ||
| 7-102637632-A-C | not specified | Uncertain significance (Jun 09, 2022) | ||
| 7-102638724-T-G | not specified | Uncertain significance (Nov 10, 2022) | ||
| 7-102638727-G-A | not specified | Uncertain significance (Oct 20, 2023) | ||
| 7-102638754-C-T | not specified | Uncertain significance (Jun 03, 2022) | ||
| 7-102638756-G-A | not specified | Uncertain significance (Feb 17, 2024) | ||
| 7-102638822-C-T | not specified | Likely benign (Jun 09, 2022) | ||
| 7-102639134-C-G | not specified | Uncertain significance (Jun 10, 2024) | ||
| 7-102639141-C-T | not specified | Uncertain significance (Feb 12, 2025) | ||
| 7-102639174-C-G | not specified | Uncertain significance (Oct 07, 2024) | ||
| 7-102640695-G-A | not specified | Likely benign (Mar 01, 2023) | ||
| 7-102653549-G-A | not specified | Likely benign (Jul 09, 2021) | ||
| 7-102653583-T-C | not specified | Likely benign (Jan 04, 2025) | ||
| 7-102653611-G-A | Likely benign (Nov 01, 2023) | |||
| 7-102655038-T-C | not specified | Likely benign (May 11, 2022) | ||
| 7-102656299-C-T | not specified | Uncertain significance (Feb 21, 2025) | ||
| 7-102657580-C-G | not specified | Uncertain significance (Nov 19, 2021) | ||
| 7-102668953-G-C | not specified | Uncertain significance (Dec 17, 2023) | ||
| 7-102671592-G-A | not specified | Uncertain significance (Oct 18, 2021) | ||
| 7-102671594-G-A | not specified | Uncertain significance (Jan 04, 2024) | ||
| 7-102671597-T-C | not specified | Uncertain significance (Jan 16, 2024) |
GnomAD
Source:
dbNSFP
Source: