ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8q24.13-24.3(chr8:126892814-143750028)x1
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
KCNK9 | No evidence available | No evidence available |
GRCh38 GRCh37 |
50 | 113 | |
ADCY8 | - | - |
GRCh38 GRCh37 |
58 | 123 | |
ADGRB1 | - | - |
GRCh38 GRCh37 |
82 | 144 | |
AGO2 | - | - |
GRCh38 GRCh37 |
81 | 157 | |
ARC | - | - |
GRCh38 GRCh37 |
10 | 68 | |
ASAP1 | - | - |
GRCh38 GRCh37 |
31 | 97 | |
ASAP1-IT1 | - | - | - |
GRCh38 GRCh37 |
- | 60 |
C8orf17 | - | - |
GRCh38 GRCh37 |
- | 65 | |
CCN4 | - | - |
GRCh38 GRCh37 |
39 | 101 | |
CHRAC1 | - | - |
GRCh38 GRCh37 |
2 | 63 |
There are 31 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 27, 2018 | RCV001006144.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023