ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8q24.13-24.21(chr8:122454392-128513076)x3
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 | |||
ANXA13 | - | - |
GRCh38 GRCh37 |
28 | 80 | |
ATAD2 | - | - |
GRCh38 GRCh37 |
69 | 118 | |
C8orf76 | - | - | - |
GRCh38 GRCh37 |
- | 51 |
CASC11 | - | - | GRCh38 | - | 22 | |
CASC19 | - | - | GRCh38 | 2 | 24 | |
CASC21 | - | - | GRCh38 | 1 | 24 | |
CASC8 | - | - | GRCh38 | 1 | 45 | |
CCAT1 | - | - | GRCh38 | - | 22 | |
CCAT2 | - | - | GRCh38 | - | 22 | |
DERL1 | - | - |
GRCh38 GRCh37 |
10 | 62 |
There are 277 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jul 16, 2013 | RCV000133620.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024