ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8q24.3(chr8:143684819-144287978)x1
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 | |||
BOP1 | - | - |
GRCh38 GRCh38 GRCh37 |
13 | 84 | |
CCDC166 | - | - | - |
GRCh38 GRCh38 GRCh37 |
34 | 100 |
CYC1 | - | - |
GRCh38 GRCh37 |
118 | 186 | |
EPPK1 | - | - |
GRCh38 GRCh37 |
381 | 443 | |
EXOSC4 | - | - |
GRCh38 GRCh37 |
13 | 80 | |
FAM83H | - | - |
GRCh38 GRCh38 GRCh37 |
215 | 278 | |
GPAA1 | - | - |
GRCh38 GRCh37 |
506 | 600 | |
GRINA | - | - |
GRCh38 GRCh37 |
- | 77 | |
HGH1 | - | - | - |
GRCh38 GRCh37 |
3 | 71 |
IQANK1 | - | - |
GRCh38 GRCh38 |
- | 24 |
There are 79 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 | RCV000054310.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023