ITGA9-AS1
Basic information
Region (hg38): 3:37693655-37861848
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 ITGA9-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 | 14 | 17 | ||||
Total | 0 | 0 | 14 | 0 | 3 |
Variants in ITGA9-AS1
This is a list of pathogenic ClinVar variants found in the ITGA9-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 |
---|---|---|---|---|
3-37732734-A-G | Benign (Dec 31, 2019) | |||
3-37732740-T-A | not specified | Uncertain significance (Nov 17, 2023) | ||
3-37732793-T-A | not specified | Uncertain significance (Sep 26, 2023) | ||
3-37736916-G-A | ITGA9-related disorder | Likely benign (Nov 02, 2020) | ||
3-37736943-G-A | not specified | Uncertain significance (Nov 17, 2023) | ||
3-37736977-C-T | not specified | Uncertain significance (Dec 16, 2022) | ||
3-37736989-G-T | ITGA9-related disorder | Likely benign (Apr 01, 2019) | ||
3-37736990-G-C | ITGA9-related disorder | Benign (Oct 21, 2019) | ||
3-37736991-G-C | ITGA9-related disorder | Likely benign (Aug 05, 2019) | ||
3-37741744-G-A | not specified | Uncertain significance (Oct 26, 2022) | ||
3-37741764-A-C | not specified | Uncertain significance (Apr 19, 2024) | ||
3-37741765-A-G | not specified | Uncertain significance (Nov 08, 2024) | ||
3-37741770-C-G | not specified | Uncertain significance (Jun 02, 2023) | ||
3-37741818-G-A | not specified | Uncertain significance (May 29, 2024) | ||
3-37743963-G-A | ITGA9-related disorder | Likely benign (May 21, 2020) | ||
3-37743969-G-A | not specified | Uncertain significance (Feb 01, 2023) | ||
3-37750481-G-A | not specified | Uncertain significance (Aug 19, 2024) | ||
3-37750543-G-C | not specified | Uncertain significance (Apr 26, 2024) | ||
3-37777432-C-T | not specified | Uncertain significance (Nov 08, 2022) | ||
3-37777464-A-G | not specified | Uncertain significance (Nov 03, 2022) | ||
3-37777512-G-A | not specified | Uncertain significance (Jun 07, 2023) | ||
3-37777549-G-A | not specified | Benign (Nov 02, 2012) | ||
3-37779902-G-C | not specified | Uncertain significance (Sep 08, 2024) | ||
3-37779975-G-A | Benign (Dec 31, 2019) | |||
3-37785003-G-A | not specified | Uncertain significance (Jun 29, 2023) |
GnomAD
Source:
dbNSFP
Source: