IGSF22-AS1
Basic information
Region (hg38): 11:18706474-18740568
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (65 variants)
- not provided (11 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the IGSF22-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 | 66 | 70 | ||||
Total | 0 | 0 | 66 | 2 | 2 |
Variants in IGSF22-AS1
This is a list of pathogenic ClinVar variants found in the IGSF22-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 |
---|---|---|---|---|
11-18706968-C-T | not specified | Uncertain significance (Jan 27, 2022) | ||
11-18707000-T-C | not specified | Uncertain significance (Feb 28, 2023) | ||
11-18707012-G-C | Uncertain significance (Jul 18, 2021) | |||
11-18707043-TGAA-T | Likely benign (Sep 01, 2022) | |||
11-18707081-C-T | not specified | Uncertain significance (Feb 27, 2024) | ||
11-18707090-C-T | not specified | Uncertain significance (Sep 21, 2023) | ||
11-18707166-T-C | not specified | Uncertain significance (Apr 08, 2024) | ||
11-18707190-G-T | not specified | Uncertain significance (Dec 08, 2023) | ||
11-18707198-G-C | not specified | Uncertain significance (Apr 25, 2022) | ||
11-18707809-A-G | not specified | Uncertain significance (Jun 22, 2021) | ||
11-18707830-C-A | not specified | Uncertain significance (May 20, 2024) | ||
11-18707854-A-C | not specified | Uncertain significance (Jan 31, 2023) | ||
11-18707885-G-A | not specified | Uncertain significance (Jan 24, 2023) | ||
11-18707929-G-T | not specified | Uncertain significance (Dec 28, 2023) | ||
11-18707941-C-T | Benign (Jul 01, 2022) | |||
11-18707946-C-G | not specified | Uncertain significance (Feb 28, 2023) | ||
11-18708244-C-T | not specified | Uncertain significance (Sep 14, 2022) | ||
11-18708245-G-A | not specified | Uncertain significance (May 26, 2024) | ||
11-18708253-A-G | not specified | Uncertain significance (Jun 29, 2023) | ||
11-18708289-G-T | not specified | Uncertain significance (Dec 21, 2022) | ||
11-18709405-G-A | not specified | Uncertain significance (Jun 28, 2022) | ||
11-18709435-C-G | not specified | Uncertain significance (Mar 07, 2023) | ||
11-18709437-A-T | not specified | Uncertain significance (Jun 16, 2023) | ||
11-18709494-C-A | not specified | Uncertain significance (Sep 20, 2023) | ||
11-18709504-T-C | not specified | Uncertain significance (Feb 11, 2022) |
GnomAD
Source:
dbNSFP
Source: