ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8q24.13-24.22(chr8:124120772-135265846)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 | |||
ADCY8 | - | - |
GRCh38 GRCh37 |
58 | 123 | |
ANXA13 | - | - |
GRCh38 GRCh37 |
28 | 80 | |
ASAP1 | - | - |
GRCh38 GRCh37 |
31 | 97 | |
ASAP1-IT1 | - | - | - |
GRCh38 GRCh37 |
- | 60 |
ATAD2 | - | - |
GRCh38 GRCh37 |
69 | 118 | |
C8orf76 | - | - | - |
GRCh38 GRCh37 |
- | 51 |
CCN4 | - | - |
GRCh38 GRCh37 |
39 | 101 | |
CYRIB | - | - |
GRCh38 GRCh37 |
3 | 66 | |
DNAAF11 | - | - |
GRCh38 GRCh37 |
244 | 305 | |
EFR3A | - | - |
GRCh38 GRCh37 |
73 | 140 |
There are 35 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jun 7, 2018 | RCV000848438.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023