ARB2A
Basic information
Region (hg38): 5:93617725-94111699
Links
Phenotypes
GenCC
Source:
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 ARB2A 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 ARB2A
This is a list of pathogenic ClinVar variants found in the ARB2A region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 5-93621079-T-G | not specified | Uncertain significance (Mar 08, 2024) | ||
| 5-93740605-G-A | not specified | Uncertain significance (May 27, 2022) | ||
| 5-93740656-G-C | not specified | Uncertain significance (Apr 25, 2023) | ||
| 5-93740710-C-A | not specified | Likely benign (Mar 31, 2024) | ||
| 5-93740905-C-G | not specified | Uncertain significance (Apr 27, 2023) | ||
| 5-93740905-C-T | not specified | Uncertain significance (Oct 17, 2023) | ||
| 5-93740908-C-T | not specified | Uncertain significance (Aug 26, 2022) | ||
| 5-93740986-G-A | not specified | Uncertain significance (Dec 06, 2023) | ||
| 5-93741026-G-C | not specified | Uncertain significance (Apr 09, 2024) | ||
| 5-93741086-T-G | not specified | Uncertain significance (Jun 02, 2024) | ||
| 5-93741107-C-T | not specified | Uncertain significance (Sep 06, 2022) | ||
| 5-93741139-T-C | not specified | Uncertain significance (Jun 24, 2022) | ||
| 5-93741241-C-G | not specified | Uncertain significance (Dec 28, 2023) | ||
| 5-93741269-C-A | not specified | Uncertain significance (Nov 19, 2022) | ||
| 5-93741284-G-A | not specified | Uncertain significance (Nov 05, 2021) | ||
| 5-93741530-G-T | not specified | Uncertain significance (May 18, 2022) | ||
| 5-93784489-C-T | not specified | Uncertain significance (Jul 12, 2023) | ||
| 5-93824186-C-T | not specified | Uncertain significance (Oct 26, 2022) | ||
| 5-93824206-G-A | not specified | Uncertain significance (Feb 15, 2023) | ||
| 5-93824219-T-C | not specified | Uncertain significance (Jun 09, 2022) | ||
| 5-93881482-T-G | not specified | Uncertain significance (Mar 23, 2023) | ||
| 5-93881537-C-T | not specified | Uncertain significance (Jun 04, 2024) | ||
| 5-93881572-T-G | not specified | Uncertain significance (Mar 21, 2023) | ||
| 5-93881577-G-C | not specified | Uncertain significance (Apr 26, 2023) | ||
| 5-93881580-T-C | not specified | Uncertain significance (Dec 28, 2022) |
GnomAD
Source:
dbNSFP
Source: