ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8q24.21(chr8:127118340-127858575)x3
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 | |||
CASC11 | - | - | GRCh38 | - | 22 | |
CASC19 | - | - | GRCh38 | 2 | 24 | |
CASC21 | - | - | GRCh38 | 1 | 24 | |
CASC8 | - | - | GRCh38 | 1 | 45 | |
CCAT1 | - | - | GRCh38 | - | 22 | |
CCAT2 | - | - | GRCh38 | - | 22 | |
LOC106867047 | - | - | - | GRCh38 | 1 | 23 |
LOC108228207 | - | - | - | GRCh38 | - | 22 |
LOC108254690 | - | - | - | GRCh38 | - | 22 |
LOC108353813 | - | - | - | GRCh38 | - | 22 |
There are 38 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) |
|
Aug 12, 2011 | RCV000050763.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024