ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8q24.3(chr8:142840194-146280020)
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 | |||
ADCK5 | - | - | - |
GRCh38 GRCh38 GRCh37 |
29 | 102 |
ADGRB1 | - | - |
GRCh38 GRCh37 |
82 | 144 | |
ARC | - | - |
GRCh38 GRCh37 |
10 | 68 | |
ARHGAP39 | - | - |
GRCh38 GRCh37 |
80 | 150 | |
BOP1 | - | - |
GRCh38 GRCh38 GRCh37 |
13 | 84 | |
C8orf33 | - | - | - |
GRCh38 GRCh38 GRCh37 |
5 | 61 |
C8orf82 | - | - | - |
GRCh38 GRCh37 |
3 | 73 |
CCDC166 | - | - | - |
GRCh38 GRCh38 GRCh37 |
34 | 100 |
COMMD5 | - | - |
GRCh38 GRCh37 |
11 | 101 | |
CPSF1 | - | - |
GRCh38 GRCh38 GRCh37 |
110 | 183 |
There are 78 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) |
|
Jan 1, 2017 | RCV000626547.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2023