ADAM7-AS2
Basic information
Region (hg38): 8:24490312-24524887
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (20 variants)
- not provided (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADAM7-AS2 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 | 20 | 21 | ||||
Total | 0 | 0 | 20 | 1 | 0 |
Variants in ADAM7-AS2
This is a list of pathogenic ClinVar variants found in the ADAM7-AS2 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
8-24490857-G-A | not specified | Uncertain significance (Jul 14, 2021) | ||
8-24490869-A-G | not specified | Uncertain significance (Aug 10, 2021) | ||
8-24490886-C-G | not specified | Uncertain significance (Apr 19, 2024) | ||
8-24491910-A-G | not specified | Uncertain significance (Sep 01, 2021) | ||
8-24491913-C-T | not specified | Uncertain significance (May 24, 2024) | ||
8-24491934-C-A | not specified | Uncertain significance (May 25, 2022) | ||
8-24492003-G-A | not specified | Uncertain significance (Nov 06, 2023) | ||
8-24492021-G-A | not specified | Uncertain significance (Nov 07, 2022) | ||
8-24492046-C-A | not specified | Uncertain significance (Mar 25, 2022) | ||
8-24492574-C-G | not specified | Uncertain significance (Jul 20, 2021) | ||
8-24493054-G-A | not specified | Uncertain significance (Nov 01, 2022) | ||
8-24493099-G-C | not specified | Uncertain significance (Jun 05, 2024) | ||
8-24493128-C-A | not specified | Uncertain significance (May 20, 2024) | ||
8-24493156-A-G | not specified | Uncertain significance (Apr 17, 2023) | ||
8-24493161-A-C | not specified | Uncertain significance (Jun 02, 2023) | ||
8-24493173-C-A | not specified | Uncertain significance (Nov 09, 2021) | ||
8-24493197-G-C | not specified | Uncertain significance (Jul 27, 2022) | ||
8-24493224-G-C | not specified | Uncertain significance (Sep 06, 2022) | ||
8-24499238-G-C | Likely benign (Mar 01, 2022) | |||
8-24499311-A-C | not specified | Uncertain significance (May 30, 2024) | ||
8-24500235-G-A | not specified | Uncertain significance (Aug 17, 2022) | ||
8-24500813-C-T | not specified | Uncertain significance (Aug 02, 2022) | ||
8-24500828-G-A | not specified | Likely benign (Jan 17, 2024) | ||
8-24500837-G-A | not specified | Uncertain significance (Jul 25, 2023) | ||
8-24500859-G-A | not specified | Uncertain significance (Sep 01, 2021) |
GnomAD
Source:
dbNSFP
Source: